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 ADAM15 0 genome.wustl.edu 37 1 155029769 155029769 + Silent SNP C C A TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 1 155029769 155029769 C A SNP ADAM15 ENST00000356955 human ensembl 69_37n +1 known silent c.1254 p.P418 0.000 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM15 HGNC ENSG00000143537 125 0 0.00 37 10 21.28 - - - AKAP9 0 genome.wustl.edu 37 7 91632416 91632416 + Missense_Mutation SNP G G A TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 7 91632416 91632416 G A SNP AKAP9 ENST00000359028 human ensembl 69_37n +1 known missense c.3221 p.G1074E 0.002 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like - no_errors AKAP9 HGNC ENSG00000127914 162 0 0.00 129 64 33.16 - - - ANGEL2 0 genome.wustl.edu 37 1 213168400 213168400 + Missense_Mutation SNP A A C TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 1 213168400 213168400 A C SNP ANGEL2 ENST00000366962 human ensembl 69_37n -1 known missense c.1618 p.F540V 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors ANGEL2 HGNC ENSG00000174606 104 0 0.00 123 36 22.64 - - - ARNT 0 genome.wustl.edu 37 1 150801630 150801630 + Missense_Mutation SNP A A G TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 1 150801630 150801630 A G SNP ARNT ENST00000358595 human ensembl 69_37n -1 known missense c.1106 p.I369T 0.998 pfam_PAS_fold,smart_PAS,pfscan_PAS,prints_Nuc_translocat,tigrfam_PAS 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,tigrfam_PAS - no_errors ARNT HGNC ENSG00000143437 145 0 0.00 166 45 21.33 - - - B4GALNT1 0 genome.wustl.edu 37 12 58023681 58023682 + Frame_Shift_Ins INS - - C TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 12 58023681 58023682 - C INS B4GALNT1 ENST00000550764 human ensembl 69_37n -1 putative frame_shift_ins c.966_965 p.R324fs 0.051:0.035 NULL NULL - no_errors B4GALNT1 HGNC ENSG00000135454 22 0 0.00 8 2 20.00 - - - BMP6 0 genome.wustl.edu 37 6 7845400 7845400 + Missense_Mutation SNP G G A TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 6 7845400 7845400 G A SNP BMP6 ENST00000283147 human ensembl 69_37n +1 known missense c.692 p.R231H 0.992 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP6 HGNC ENSG00000153162 145 0 0.00 207 40 16.19 - - - CCNB1 0 genome.wustl.edu 37 5 68467280 68467283 + Splice_Site DEL GTAA GTAA - TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 GTAA GTAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 5 68467280 68467283 GTAA - DEL CCNB1 ENST00000256442 human ensembl 69_37n +1 known splice_site_del c.546+1_546+1 e4+1 1.000:1.000:0.985:0.992 - - - no_errors CCNB1 HGNC ENSG00000134057 109 0 0.00 112 22 16.30 - - - CD69 0 genome.wustl.edu 37 12 9907797 9907797 + Missense_Mutation SNP G G C TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 12 9907797 9907797 G C SNP CD69 ENST00000228434 human ensembl 69_37n -1 known missense c.248 p.S83C 0.091 pfam_Herpes_UL45-like pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CD69 HGNC ENSG00000110848 187 0 0.00 35 158 81.87 - - - CDK16 0 genome.wustl.edu 37 X 47086098 47086098 + Missense_Mutation SNP A A C TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e X 47086098 47086098 A C SNP CDK16 ENST00000276052 human ensembl 69_37n +1 known missense c.1255 p.M419L 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK16 HGNC ENSG00000102225 101 0 0.00 20 25 55.56 - - - CDKN1B 0 genome.wustl.edu 37 12 12871175 12871175 + Frame_Shift_Del DEL G G - TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 12 12871175 12871175 G - DEL CDKN1B ENST00000228872 human ensembl 69_37n +1 known frame_shift_del c.402 p.T135fs 1.000 NULL pfam_CDI - no_errors CDKN1B HGNC ENSG00000111276 34 0 0.00 4 8 61.54 - - - CNTNAP4 0 genome.wustl.edu 37 16 76572193 76572193 + Missense_Mutation SNP G G A TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 16 76572193 76572193 G A SNP CNTNAP4 ENST00000307431 human ensembl 69_37n +1 known missense c.3173 p.S1058N 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC ENSG00000152910 130 0 0.00 26 55 67.90 - - - CSNK1A1P1 0 genome.wustl.edu 37 15 37109994 37109994 + RNA SNP C C A TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 15 37109994 37109994 C A SNP CSNK1A1P1 ENST00000430593 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors CSNK1A1P1 HGNC ENSG00000223518 76 0 0.00 34 19 35.85 - - - CXXC11 0 genome.wustl.edu 37 2 242814374 242814375 + Frame_Shift_Ins INS - - C TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 2 242814374 242814375 - C INS CXXC11 ENST00000343216 human ensembl 69_37n +1 known frame_shift_ins c.667_668 p.A226fs 0.000:0.000 NULL NULL - no_errors CXXC11 HGNC ENSG00000188011 19 0 0.00 4 2 33.33 - - - CYBB 0 genome.wustl.edu 37 X 37665784 37665784 + Nonsense_Mutation SNP C C T TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e X 37665784 37665784 C T SNP CYBB ENST00000378588 human ensembl 69_37n +1 known nonsense c.1459 p.Q487* 1.000 pfam_Fe_red_NAD-bd_6 pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors CYBB HGNC ENSG00000165168 111 0 0.00 89 32 26.45 - - - CYP26A1 0 genome.wustl.edu 37 10 94836315 94836315 + Missense_Mutation SNP G G C TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 10 94836315 94836315 G C SNP CYP26A1 ENST00000224356 human ensembl 69_37n +1 known missense c.1014 p.K338N 0.996 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP26A1 HGNC ENSG00000095596 118 0 0.00 58 41 41.41 - - - DGKK 0 genome.wustl.edu 37 X 50111995 50111995 + RNA SNP G G A TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e X 50111995 50111995 G A SNP DGKK ENST00000376025 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors DGKK HGNC ENSG00000204466 117 1 0.85 41 63 60.58 - - - DICER1 0 genome.wustl.edu 37 14 95560349 95560349 + Missense_Mutation SNP G G A TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 14 95560349 95560349 G A SNP DICER1 ENST00000343455 human ensembl 69_37n -1 known missense c.5240 p.S1747L 1.000 pfam_RNase_III_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,pfscan_RNase_III_dom pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 137 0 0.00 125 36 22.36 - - - DMD 0 genome.wustl.edu 37 X 32382795 32382795 + Silent SNP C C T TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e X 32382795 32382795 C T SNP DMD ENST00000357033 human ensembl 69_37n -1 known silent c.5058 p.Q1686 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 201 0 0.00 168 58 25.55 - - - DMXL1 0 genome.wustl.edu 37 5 118525430 118525430 + Missense_Mutation SNP A A G TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 5 118525430 118525430 A G SNP DMXL1 ENST00000539542 human ensembl 69_37n +1 known missense c.7163 p.K2388R 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 369 0 0.00 227 205 47.34 - - - DNAH11 0 genome.wustl.edu 37 7 21730485 21730485 + Silent SNP C C T TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 7 21730485 21730485 C T SNP DNAH11 ENST00000328843 human ensembl 69_37n +1 known silent c.6048 p.L2016 1.000 smart_AAA+_ATPase pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 327 0 0.00 146 171 53.77 - - - DZIP1L 0 genome.wustl.edu 37 3 137822634 137822635 + Frame_Shift_Ins INS - - C TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 3 137822634 137822635 - C INS DZIP1L ENST00000327532 human ensembl 69_37n -1 known frame_shift_ins c.180_179 p.G61fs 0.000:0.000 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC ENSG00000158163 45 0 0.00 44 5 10.20 - - - EVI5 0 genome.wustl.edu 37 1 93168985 93168985 + Missense_Mutation SNP G G C TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 1 93168985 93168985 G C SNP EVI5 ENST00000543509 human ensembl 69_37n -1 known missense c.663 p.S221R 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5 HGNC ENSG00000067208 144 0 0.00 35 58 62.37 - - - FAH 0 genome.wustl.edu 37 15 80454614 80454614 + Missense_Mutation SNP C C T TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 15 80454614 80454614 C T SNP FAH ENST00000261755 human ensembl 69_37n +1 known missense c.391 p.R131W 0.801 pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel,tigrfam_Fumarylacetoacetase pfam_Fumarylacetoacetase_C,pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_C-rel,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase - no_errors FAH HGNC ENSG00000103876 216 0 0.00 63 36 36.36 - - - FAM179A 0 genome.wustl.edu 37 2 29259479 29259479 + Missense_Mutation SNP G G A TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 2 29259479 29259479 G A SNP FAM179A ENST00000379558 human ensembl 69_37n +1 known missense c.2491 p.A831T 0.007 superfamily_ARM-type_fold pfam_CLASP_N_dom,superfamily_ARM-type_fold - no_errors FAM179A HGNC ENSG00000189350 181 0 0.00 62 42 40.38 - - - FBN1 0 genome.wustl.edu 37 15 48818433 48818433 + Silent SNP G G A TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 15 48818433 48818433 G A SNP FBN1 ENST00000316623 human ensembl 69_37n -1 known silent c.882 p.T294 0.822 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 245 0 0.00 101 50 33.11 - - - FBXL13 0 genome.wustl.edu 37 7 102603988 102603988 + Missense_Mutation SNP C C T TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 7 102603988 102603988 C T SNP FBXL13 ENST00000313221 human ensembl 69_37n -1 known missense c.716 p.R239K 0.021 NULL smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL13 HGNC ENSG00000161040 175 0 0.00 110 32 22.54 - - - FHL1 0 genome.wustl.edu 37 X 135291482 135291482 + Missense_Mutation SNP C C T TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e X 135291482 135291482 C T SNP FHL1 ENST00000345434 human ensembl 69_37n +1 known missense c.769 p.L257F 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL1 HGNC ENSG00000022267 115 0 0.00 66 36 35.29 - - - FNBP1 0 genome.wustl.edu 37 9 132689621 132689621 + Splice_Site SNP C C T TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 9 132689621 132689621 C T SNP FNBP1 ENST00000372416 human ensembl 69_37n -1 known splice_site c.643-1 e8-1 1.000 - - - no_errors FNBP1 HGNC ENSG00000187239 200 0 0.00 177 42 19.18 - - - FRMPD2 0 genome.wustl.edu 37 10 49383976 49383976 + Missense_Mutation SNP T T C TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 10 49383976 49383976 T C SNP FRMPD2 ENST00000374201 human ensembl 69_37n -1 known missense c.2902 p.I968V 0.060 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 25 0 0.00 30 8 21.05 - - - GATAD2A 0 genome.wustl.edu 37 19 19612063 19612063 + Missense_Mutation SNP G G A TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 19 19612063 19612063 G A SNP GATAD2A ENST00000418032 human ensembl 69_37n +1 novel missense c.284 p.R95K 1.000 pfam_Znf_GATA pfam_Znf_GATA,pfscan_Znf_GATA - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region GATAD2A HGNC ENSG00000167491 13 0 0.00 2 4 66.67 - - - GLE1 0 genome.wustl.edu 37 9 131277847 131277847 + Nonsense_Mutation SNP C C T TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 9 131277847 131277847 C T SNP GLE1 ENST00000309971 human ensembl 69_37n +1 known nonsense c.361 p.Q121* 0.471 NULL pfam_GLE1 - no_errors GLE1 HGNC ENSG00000119392 47 0 0.00 31 44 58.67 - - - GOLGA3 0 genome.wustl.edu 37 12 133381492 133381492 + Missense_Mutation SNP C C A TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 12 133381492 133381492 C A SNP GOLGA3 ENST00000204726 human ensembl 69_37n -1 known missense c.1407 p.E469D 0.990 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 36 0 0.00 33 30 47.62 - - - GOLGA8DP 0 genome.wustl.edu 37 15 22709084 22709084 + RNA SNP G G A TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 15 22709084 22709084 G A SNP GOLGA8DP ENST00000314246 human ensembl 69_37n -1 known rna NULL NULL 0.891 - - - no_errors GOLGA8DP HGNC ENSG00000185182 47 0 0.00 24 11 31.43 - - - HIST1H2BK 0 genome.wustl.edu 37 6 27114440 27114440 + Silent SNP C C T TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 6 27114440 27114440 C T SNP HIST1H2BK ENST00000356950 human ensembl 69_37n -1 known silent c.138 p.L46 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BK HGNC ENSG00000197903 174 0 0.00 223 39 14.89 - - - HSD17B13 0 genome.wustl.edu 37 4 88239546 88239546 + Missense_Mutation SNP C C T TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 4 88239546 88239546 C T SNP HSD17B13 ENST00000328546 human ensembl 69_37n -1 known missense c.253 p.V85I 0.886 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B13 HGNC ENSG00000170509 96 0 0.00 71 16 18.39 - - - ING4 0 genome.wustl.edu 37 12 6762144 6762144 + Missense_Mutation SNP C C T TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 12 6762144 6762144 C T SNP ING4 ENST00000396807 human ensembl 69_37n -1 known missense c.349 p.E117K 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING4 HGNC ENSG00000111653 104 0 0.00 77 17 18.09 - - - INHBA 0 genome.wustl.edu 37 7 41729911 41729911 + Silent SNP G G C TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 7 41729911 41729911 G C SNP INHBA ENST00000242208 human ensembl 69_37n -1 known silent c.618 p.L206 0.078 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu - no_errors INHBA HGNC ENSG00000122641 57 0 0.00 44 17 27.87 - - - KCNG4 0 genome.wustl.edu 37 16 84271018 84271019 + Frame_Shift_Del DEL TG TG - TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 16 84271018 84271019 TG - DEL KCNG4 ENST00000308251 human ensembl 69_37n -1 known frame_shift_del c.74_73 p.Q25fs 0.000:0.006 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG4 HGNC ENSG00000168418 45 0 0.00 22 14 38.89 - - - KRT86 0 genome.wustl.edu 37 12 52699981 52699981 + Missense_Mutation SNP G G T TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 12 52699981 52699981 G T SNP KRT86 ENST00000293525 human ensembl 69_37n +1 known missense c.1164 p.E388D 1.000 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors AC021066.1 Clone_based_ensembl_gene ENSG00000170442 152 0 0.00 262 77 22.71 - - - LCOR 0 genome.wustl.edu 37 10 98714962 98714962 + Missense_Mutation SNP G G C TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 10 98714962 98714962 G C SNP LCOR ENST00000356016 human ensembl 69_37n +1 known missense c.585 p.W195C 1.000 NULL pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq - no_errors LCOR HGNC ENSG00000196233 84 0 0.00 102 27 20.93 - - - LCP2 0 genome.wustl.edu 37 5 169720329 169720329 + Silent SNP A A G TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 5 169720329 169720329 A G SNP LCP2 ENST00000046794 human ensembl 69_37n -1 known silent c.126 p.D42 0.018 pfam_SAM_2,superfamily_SAM/pointed,smart_SAM pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2 - no_errors LCP2 HGNC ENSG00000043462 40 0 0.00 21 8 27.59 - - - LELP1 0 genome.wustl.edu 37 1 153177188 153177188 + Missense_Mutation SNP C C T TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 1 153177188 153177188 C T SNP LELP1 ENST00000368747 human ensembl 69_37n +1 known missense c.5 p.S2L 0.999 NULL NULL - no_errors LELP1 HGNC ENSG00000203784 308 0 0.00 527 70 11.67 - - - LRRK1 0 genome.wustl.edu 37 15 101566209 101566209 + Missense_Mutation SNP C C T TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 15 101566209 101566209 C T SNP LRRK1 ENST00000388948 human ensembl 69_37n +1 known missense c.2272 p.H758Y 1.000 pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors LRRK1 HGNC ENSG00000154237 77 0 0.00 18 12 40.00 - - - MDC1 0 genome.wustl.edu 37 6 30673675 30673675 + Missense_Mutation SNP G G T TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 6 30673675 30673675 G T SNP MDC1 ENST00000417033 human ensembl 69_37n -1 known missense c.466 p.L156I 0.777 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MDC1 HGNC ENSG00000137337 497 0 0.00 653 225 25.60 - - - MIR1304 0 genome.wustl.edu 37 11 93466920 93466921 + RNA INS - - T TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 11 93466920 93466921 - T INS MIR1304 ENST00000408243 human ensembl 69_37n -1 known rna NULL NULL 0.011:0.009 - - - no_errors MIR1304 HGNC ENSG00000221170 40 0 0.00 14 2 12.50 - - - MTIF2 0 genome.wustl.edu 37 2 55463838 55463840 + In_Frame_Del DEL AAC AAC - TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 AAC AAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 2 55463838 55463840 AAC - DEL MTIF2 ENST00000263629 human ensembl 69_37n -1 known in_frame_del c.2130_2128 p.V710in_frame_del 0.995:0.997:0.854 superfamily_Transl_elong_init/rib_B-barrel pfam_ProtSyn_GTP-bd,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_TIF_IF2_dom3,superfamily_Transl_elong_init/rib_B-barrel,tigrfam_Small_GTP-bd_dom - no_errors MTIF2 HGNC ENSG00000085760 92 0 0.00 62 26 29.55 - - - MUC16 0 genome.wustl.edu 37 19 9058646 9058646 + Silent SNP T T C TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 19 9058646 9058646 T C SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known silent c.28800 p.T9600 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 85 0 0.00 31 73 70.19 - - - MUC16 0 genome.wustl.edu 37 19 9059401 9059401 + Missense_Mutation SNP T T C TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 19 9059401 9059401 T C SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.28045 p.T9349A 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 223 0 0.00 90 176 66.17 - - - MYO3A 0 genome.wustl.edu 37 10 26462851 26462851 + Missense_Mutation SNP G G T TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 10 26462851 26462851 G T SNP MYO3A ENST00000265944 human ensembl 69_37n +1 known missense c.3658 p.D1220Y 0.017 NULL pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 199 0 0.00 109 84 43.52 - - - NBPF14 0 genome.wustl.edu 37 1 148005450 148005451 + In_Frame_Ins INS - - CTC TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 1 148005450 148005451 - CTC INS NBPF14 ENST00000369219 human ensembl 69_37n -1 known in_frame_ins c.2475_2474 p.827in_frame_insR 0.028:0.027 NULL pfam_NBPF_dom - no_errors NBPF14 HGNC ENSG00000122497 29 0 0.00 20 3 13.04 - - - OR51A4 0 genome.wustl.edu 37 11 4967817 4967817 + Nonsense_Mutation SNP T T A TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 11 4967817 4967817 T A SNP OR51A4 ENST00000380373 human ensembl 69_37n -1 known nonsense c.514 p.K172* 0.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR51A4 HGNC ENSG00000205497 520 0 0.00 429 120 21.86 - - - PARP1 0 genome.wustl.edu 37 1 226561965 226561965 + Missense_Mutation SNP C C G TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 1 226561965 226561965 C G SNP PARP1 ENST00000366794 human ensembl 69_37n -1 known missense c.2032 p.D678H 1.000 pfam_Poly(ADP-ribose)pol_reg_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,pirsf_NAD_ADPRT,pfscan_Poly(ADP-ribose)pol_reg_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP1 HGNC ENSG00000143799 115 0 0.00 220 32 12.70 - - - PCOLCE 0 genome.wustl.edu 37 7 100205413 100205414 + Frame_Shift_Ins INS - - C TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 7 100205413 100205414 - C INS PCOLCE ENST00000223061 human ensembl 69_37n +1 known frame_shift_ins c.1166_1167 p.M392fs 0.992:0.880 pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain pfam_CUB,pfam_Netrin_module_non-TIMP,superfamily_CUB,superfamily_TIMP-like_OB-fold,smart_CUB,smart_Netrin_module_non-TIMP,pfscan_CUB,pfscan_Netrin_domain - no_errors PCOLCE HGNC ENSG00000106333 120 1 0.83 39 6 13.33 - - - PDK4 0 genome.wustl.edu 37 7 95216806 95216806 + Missense_Mutation SNP A A C TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 7 95216806 95216806 A C SNP PDK4 ENST00000005178 human ensembl 69_37n -1 known missense c.905 p.I302S 1.000 pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core - no_errors PDK4 HGNC ENSG00000004799 109 1 0.91 57 26 31.33 - - - PID1 0 genome.wustl.edu 37 2 230020681 230020681 + Splice_Site SNP C C T TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 2 230020681 230020681 C T SNP PID1 ENST00000354069 human ensembl 69_37n -1 known splice_site c.130-1 e2-1 1.000 - - - no_errors PID1 HGNC ENSG00000153823 201 0 0.00 82 48 36.92 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 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 154 0 0.00 36 176 83.02 - - - PIWIL1 0 genome.wustl.edu 37 12 130847321 130847321 + Missense_Mutation SNP C C T TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 12 130847321 130847321 C T SNP PIWIL1 ENST00000245255 human ensembl 69_37n +1 known missense c.1981 p.R661C 0.984 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL1 HGNC ENSG00000125207 108 0 0.00 111 17 13.28 - - - PREP 0 genome.wustl.edu 37 6 105730425 105730425 + Missense_Mutation SNP C C T TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 6 105730425 105730425 C T SNP PREP ENST00000369110 human ensembl 69_37n -1 known missense c.1582 p.D528N 1.000 pfam_Peptidase_S9,prints_Peptidase_S9A pfam_Peptidase_S9A_B_C_N,pfam_Peptidase_S9,superfamily_Peptidase_S9A_B_C_N,prints_Peptidase_S9A - no_errors PREP HGNC ENSG00000085377 252 0 0.00 96 106 52.48 - - - PSG1 0 genome.wustl.edu 37 19 43373185 43373185 + Silent SNP C C T TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 19 43373185 43373185 C T SNP PSG1 ENST00000312439 human ensembl 69_37n -1 known silent c.711 p.P237 0.431 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG1 HGNC ENSG00000231924 444 0 0.00 412 82 16.60 - - - RAB28 0 genome.wustl.edu 37 4 13383134 13383134 + Nonsense_Mutation SNP G G A TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 4 13383134 13383134 G A SNP RAB28 ENST00000504644 human ensembl 69_37n -1 putative nonsense c.85 p.Q29* 1.000 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region RAB28 HGNC ENSG00000157869 254 0 0.00 53 166 75.45 - - - RASGEF1C 0 genome.wustl.edu 37 5 179545842 179545842 + Missense_Mutation SNP G G A TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 5 179545842 179545842 G A SNP RASGEF1C ENST00000361132 human ensembl 69_37n -1 known missense c.932 p.S311F 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1C HGNC ENSG00000146090 32 0 0.00 19 13 40.62 - - - RBM25 0 genome.wustl.edu 37 14 73572680 73572680 + Missense_Mutation SNP G G A TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 14 73572680 73572680 G A SNP RBM25 ENST00000261973 human ensembl 69_37n +1 known missense c.1268 p.R423Q 0.845 NULL pfam_PWI,pfam_RRM_dom,superfamily_PWI,smart_RRM_dom,smart_PWI,pfscan_RRM_dom - no_errors RBM25 HGNC ENSG00000119707 309 0 0.00 242 344 58.60 - - - RYR3 0 genome.wustl.edu 37 15 34130404 34130404 + Missense_Mutation SNP G G A TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 15 34130404 34130404 G A SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known missense c.12223 p.E4075K 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 151 0 0.00 92 48 34.29 - - - SATL1 0 genome.wustl.edu 37 X 84349940 84349940 + Missense_Mutation SNP C C T TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e X 84349940 84349940 C T SNP SATL1 ENST00000509231 human ensembl 69_37n -1 known missense c.1756 p.D586N 0.000 superfamily_Acyl_CoA_acyltransferase superfamily_Acyl_CoA_acyltransferase - no_errors SATL1 HGNC ENSG00000184788 26 0 0.00 28 15 34.88 - - - SIGLEC5 0 genome.wustl.edu 37 19 52132741 52132741 + Silent SNP G G A TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 19 52132741 52132741 G A SNP SIGLEC5 ENST00000222107 human ensembl 69_37n -1 known silent c.570 p.P190 0.000 pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC5 HGNC ENSG00000105501 55 0 0.00 44 7 13.73 - - - SLC25A14 0 genome.wustl.edu 37 X 129474326 129474326 + Missense_Mutation SNP G G T TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e X 129474326 129474326 G T SNP SLC25A14 ENST00000218197 human ensembl 69_37n +1 known missense c.74 p.G25V 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling,prints_Mit_carrier - no_errors SLC25A14 HGNC ENSG00000102078 123 0 0.00 39 8 17.02 - - - SLC30A5 0 genome.wustl.edu 37 5 68419204 68419204 + Nonstop_Mutation SNP G G C TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 5 68419204 68419204 G C SNP SLC30A5 ENST00000511158 human ensembl 69_37n +1 novel nonstop c.35 p.*12S 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SLC30A5 HGNC ENSG00000145740 103 0 0.00 125 60 32.43 - - - SLC31A1 0 genome.wustl.edu 37 9 116018517 116018517 + Missense_Mutation SNP C C T TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 9 116018517 116018517 C T SNP SLC31A1 ENST00000374212 human ensembl 69_37n +1 known missense c.89 p.S30L 0.217 NULL pfam_Cop_transporter - no_errors SLC31A1 HGNC ENSG00000136868 118 0 0.00 98 13 11.71 - - - SLCO1C1 0 genome.wustl.edu 37 12 20893300 20893300 + Silent SNP G G A TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 12 20893300 20893300 G A SNP SLCO1C1 ENST00000381552 human ensembl 69_37n +1 known silent c.1731 p.L577 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO1C1 HGNC ENSG00000139155 297 0 0.00 340 79 18.85 - - - SORBS1 0 genome.wustl.edu 37 10 97096417 97096417 + Nonsense_Mutation SNP G G C TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 10 97096417 97096417 G C SNP SORBS1 ENST00000361941 human ensembl 69_37n -1 known nonsense c.3500 p.S1167* 0.983 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 61 0 0.00 48 31 39.24 - - - SPPL2A 0 genome.wustl.edu 37 15 51024842 51024842 + Missense_Mutation SNP G G C TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 15 51024842 51024842 G C SNP SPPL2A ENST00000261854 human ensembl 69_37n -1 known missense c.972 p.F324L 1.000 pfam_Peptidase_A22B_SPP,smart_Peptidase_A22 pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Peptidase_A22 - no_errors SPPL2A HGNC ENSG00000138600 64 0 0.00 59 19 24.36 - - - SUSD4 0 genome.wustl.edu 37 1 223408322 223408322 + Missense_Mutation SNP G G A TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 1 223408322 223408322 G A SNP SUSD4 ENST00000344029 human ensembl 69_37n -1 known missense c.845 p.S282L 0.003 NULL pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors SUSD4 HGNC ENSG00000143502 193 0 0.00 266 93 25.91 - - - TMOD4 0 genome.wustl.edu 37 1 151143396 151143396 + Missense_Mutation SNP C C T TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 1 151143396 151143396 C T SNP TMOD4 ENST00000466891 human ensembl 69_37n -1 putative missense c.323 p.R108K 1.000 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region TMOD4 HGNC ENSG00000163157 57 0 0.00 123 16 11.51 - - - TP53 0 genome.wustl.edu 37 17 7577568 7577568 + Missense_Mutation SNP C C T TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 17 7577568 7577568 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.713 p.C238Y 1.000 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 74 0 0.00 19 36 65.45 - - - TPTE2 0 genome.wustl.edu 37 13 20048120 20048120 + Missense_Mutation SNP C C T TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 13 20048120 20048120 C T SNP TPTE2 ENST00000382977 human ensembl 69_37n -1 known missense c.326 p.R109H 0.000 NULL pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 151 0 0.00 119 42 26.09 - - - TRPM4 0 genome.wustl.edu 37 19 49674925 49674925 + Missense_Mutation SNP G G A TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 19 49674925 49674925 G A SNP TRPM4 ENST00000252826 human ensembl 69_37n +1 known missense c.949 p.D317N 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 44 0 0.00 22 22 50.00 - - - UBE2J1 0 genome.wustl.edu 37 6 90039635 90039636 + Frame_Shift_Ins INS - - G TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 6 90039635 90039636 - G INS UBE2J1 ENST00000435041 human ensembl 69_37n -1 known frame_shift_ins c.720_719 p.T241fs 0.004:0.007 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2J1 HGNC ENSG00000198833 138 0 0.00 102 87 46.03 - - - UBR1 0 genome.wustl.edu 37 15 43282235 43282235 + Missense_Mutation SNP C C T TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 15 43282235 43282235 C T SNP UBR1 ENST00000290650 human ensembl 69_37n -1 known missense c.3841 p.E1281K 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR1 HGNC ENSG00000159459 54 0 0.00 29 17 36.96 - - - UQCR10 0 genome.wustl.edu 37 22 30163499 30163499 + Nonsense_Mutation SNP C C T TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 22 30163499 30163499 C T SNP UQCR10 ENST00000330029 human ensembl 69_37n +1 known nonsense c.112 p.Q38* 0.997 pfam_Ubiquinol_cyt_c_Rdtase_QCR9,superfamily_Ubiquinol_cyt_c_Rdtase_QCR9 pfam_Ubiquinol_cyt_c_Rdtase_QCR9,superfamily_Ubiquinol_cyt_c_Rdtase_QCR9 - no_errors UQCR10 HGNC ENSG00000184076 22 0 0.00 13 5 27.78 - - - WDR11 0 genome.wustl.edu 37 10 122649430 122649430 + Missense_Mutation SNP G G C TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 10 122649430 122649430 G C SNP WDR11 ENST00000263461 human ensembl 69_37n +1 known missense c.2252 p.W751S 1.000 pfam_WD40_repeat,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR11 HGNC ENSG00000120008 72 0 0.00 101 13 11.40 - - - WDR82 0 genome.wustl.edu 37 3 52293228 52293228 + Nonsense_Mutation SNP G G A TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 3 52293228 52293228 G A SNP WDR82 ENST00000296490 human ensembl 69_37n -1 known nonsense c.754 p.Q252* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR82 HGNC ENSG00000164091 207 0 0.00 113 117 50.87 - - - ZEB2 0 genome.wustl.edu 37 2 145147374 145147374 + Missense_Mutation SNP C C T TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 2 145147374 145147374 C T SNP ZEB2 ENST00000303660 human ensembl 69_37n -1 known missense c.3289 p.E1097K 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 110 0 0.00 42 30 41.67 - - - ZHX2 0 genome.wustl.edu 37 8 123963911 123963911 + Missense_Mutation SNP C C G TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 8 123963911 123963911 C G SNP ZHX2 ENST00000314393 human ensembl 69_37n +1 known missense c.161 p.S54C 0.998 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZHX2 HGNC ENSG00000178764 79 0 0.00 332 53 13.77 - - - ZHX2 0 genome.wustl.edu 37 8 123964167 123964167 + Missense_Mutation SNP C C G TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 8 123964167 123964167 C G SNP ZHX2 ENST00000314393 human ensembl 69_37n +1 known missense c.417 p.F139L 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZHX2 HGNC ENSG00000178764 150 0 0.00 581 85 12.76 - - - ZNF142 0 genome.wustl.edu 37 2 219503518 219503519 + Frame_Shift_Ins INS - - C TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 2 219503518 219503519 - C INS ZNF142 ENST00000411696 human ensembl 69_37n -1 known frame_shift_ins c.4608_4607 p.Y1536fs 1.000:1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 17 0 0.00 15 4 21.05 - - - ZNF682 0 genome.wustl.edu 37 19 20117297 20117297 + Silent SNP C C T TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 19 20117297 20117297 C T SNP ZNF682 ENST00000397165 human ensembl 69_37n -1 known silent c.1014 p.E338 1.000 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 ZNF682 HGNC ENSG00000197124 211 0 0.00 168 54 24.32 - - - ZNF705E 0 genome.wustl.edu 37 11 71528103 71528103 + RNA SNP C C G TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 732dd0ab-c869-4d35-973f-9db064680fb1 40550f2e-0413-4ddf-85e3-edce4f47f62e 11 71528103 71528103 C G SNP ZNF705E ENST00000525199 human ensembl 69_37n -1 known rna NULL NULL 0.003 - - - no_errors ZNF705E HGNC ENSG00000214534 293 0 0.00 339 119 25.98 - - -