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 AADAC 0 genome.wustl.edu 37 3 151535239 151535239 + Nonsense_Mutation SNP C C A TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 3 151535239 151535239 C A SNP AADAC ENST00000232892 human ensembl 69_37n +1 known nonsense c.224 p.S75* 0.994 pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pfam_CarbesteraseB,pirsf_Arylacetamide_deacetylase - no_errors AADAC HGNC ENSG00000114771 162 0 0.00 143 68 32.23 - - - ADAM21 0 genome.wustl.edu 37 14 70924450 70924450 + Silent SNP C C T TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 14 70924450 70924450 C T SNP ADAM21 ENST00000267499 human ensembl 69_37n +1 known silent c.234 p.V78 0.170 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 127 1 0.78 118 21 15.11 - - - AKR7L 0 genome.wustl.edu 37 1 19595111 19595111 + Missense_Mutation SNP C C T TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 1 19595111 19595111 C T SNP AKR7L ENST00000420396 human ensembl 69_37n -1 known missense c.255 p.M85I 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom - no_errors AKR7L HGNC ENSG00000211454 49 0 0.00 33 41 55.41 - - - AQP3 0 genome.wustl.edu 37 9 33443389 33443389 + Silent SNP C C G TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 9 33443389 33443389 C G SNP AQP3 ENST00000297991 human ensembl 69_37n -1 known silent c.303 p.L101 0.991 pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_3,prints_MIP,tigrfam_Aquaporin pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_3,prints_MIP,tigrfam_Aquaporin - no_errors AQP3 HGNC ENSG00000165272 105 0 0.00 117 47 28.66 - - - ASB15 0 genome.wustl.edu 37 7 123269363 123269363 + Missense_Mutation SNP G G A TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 7 123269363 123269363 G A SNP ASB15 ENST00000275699 human ensembl 69_37n +1 known missense c.1315 p.G439S 1.000 pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB15 HGNC ENSG00000146809 185 0 0.00 216 28 11.48 - - - ATP11A 0 genome.wustl.edu 37 13 113474225 113474225 + Missense_Mutation SNP G G A TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 13 113474225 113474225 G A SNP ATP11A ENST00000375630 human ensembl 69_37n +1 known missense c.686 p.R229H 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP11A HGNC ENSG00000068650 92 0 0.00 56 72 56.25 - - - CRLF3 0 genome.wustl.edu 37 17 29123274 29123274 + Silent SNP G G A TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 17 29123274 29123274 G A SNP CRLF3 ENST00000324238 human ensembl 69_37n -1 known silent c.507 p.D169 1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CRLF3 HGNC ENSG00000176390 167 0 0.00 79 105 57.07 - - - CXorf57 0 genome.wustl.edu 37 X 105905447 105905447 + Silent SNP G G A TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 X 105905447 105905447 G A SNP CXorf57 ENST00000372548 human ensembl 69_37n +1 known silent c.2181 p.A727 0.707 NULL superfamily_NA-bd_OB-fold-like - no_errors CXorf57 HGNC ENSG00000147231 128 0 0.00 111 53 32.32 - - - DGKB 0 genome.wustl.edu 37 7 14797340 14797340 + Silent SNP T T C TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 7 14797340 14797340 T C SNP DGKB ENST00000258767 human ensembl 69_37n -1 known silent c.87 p.L29 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKB HGNC ENSG00000136267 144 0 0.00 99 34 25.56 - - - ERCC6L 0 genome.wustl.edu 37 X 71425081 71425081 + Missense_Mutation SNP G G T TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 X 71425081 71425081 G T SNP ERCC6L ENST00000334463 human ensembl 69_37n -1 known missense c.3536 p.P1179H 0.007 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L HGNC ENSG00000186871 228 0 0.00 195 93 32.29 - - - FAT2 0 genome.wustl.edu 37 5 150946518 150946518 + Missense_Mutation SNP C C A TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 5 150946518 150946518 C A SNP FAT2 ENST00000261800 human ensembl 69_37n -1 known missense c.1975 p.V659L 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 167 0 0.00 208 89 29.77 - - - HIST1H2AE 0 genome.wustl.edu 37 6 26217379 26217379 + Silent SNP G G T TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 6 26217379 26217379 G T SNP HIST1H2AE ENST00000303910 human ensembl 69_37n +1 known silent c.177 p.L59 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AE HGNC ENSG00000168274 61 0 0.00 88 15 14.56 - - - HOOK2 0 genome.wustl.edu 37 19 12876942 12876942 + Missense_Mutation SNP G G A TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 19 12876942 12876942 G A SNP HOOK2 ENST00000397668 human ensembl 69_37n -1 known missense c.1486 p.R496C 0.642 pfam_HOOK pfam_HOOK,superfamily_UBA-like - no_errors HOOK2 HGNC ENSG00000095066 13 0 0.00 17 5 22.73 - - - HRSP12 0 genome.wustl.edu 37 8 99118536 99118536 + Missense_Mutation SNP C C T TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 8 99118536 99118536 C T SNP HRSP12 ENST00000254878 human ensembl 69_37n -1 known missense c.190 p.E64K 1.000 pfam_YjgF/Yer057p/UK114,superfamily_Endoribo_LPSP/chorism_mut-like,tigrfam_YjgF-like pfam_YjgF/Yer057p/UK114,superfamily_Endoribo_LPSP/chorism_mut-like,tigrfam_YjgF-like - no_errors HRSP12 HGNC ENSG00000132541 143 0 0.00 80 108 57.14 - - - KRI1 0 genome.wustl.edu 37 19 10670170 10670170 + Silent SNP C C T TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 19 10670170 10670170 C T SNP KRI1 ENST00000312962 human ensembl 69_37n -1 known silent c.1077 p.L359 0.997 NULL pfam_KRR1-interact_protein_1 - no_errors KRI1 HGNC ENSG00000129347 110 0 0.00 189 27 12.50 - - - LAMA2 0 genome.wustl.edu 37 6 129609065 129609065 + Missense_Mutation SNP C C A TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 6 129609065 129609065 C A SNP LAMA2 ENST00000421865 human ensembl 69_37n +1 known missense c.2611 p.L871I 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 191 0 0.00 241 29 10.74 - - - LAMB4 0 genome.wustl.edu 37 7 107710329 107710329 + Missense_Mutation SNP A A C TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 7 107710329 107710329 A C SNP LAMB4 ENST00000205386 human ensembl 69_37n -1 known missense c.2126 p.L709R 1.000 pfscan_Laminin_IV pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 67 0 0.00 68 31 31.00 - - - MUC2 0 genome.wustl.edu 37 11 1101591 1101591 + Missense_Mutation SNP C C T TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 11 1101591 1101591 C T SNP MUC2 ENST00000441003 human ensembl 69_37n +1 known missense c.7604 p.S2535F 0.011 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 95 0 0.00 66 86 56.58 - - - NEK3 0 genome.wustl.edu 37 13 52707946 52707946 + Missense_Mutation SNP C C T TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 13 52707946 52707946 C T SNP NEK3 ENST00000452082 human ensembl 69_37n -1 known missense c.1327 p.E443K 0.685 NULL 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK3 HGNC ENSG00000136098 73 0 0.00 68 10 12.82 - - - PCDH7 0 genome.wustl.edu 37 4 30921826 30921826 + Nonsense_Mutation SNP C C T TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 4 30921826 30921826 C T SNP PCDH7 ENST00000543491 human ensembl 69_37n +1 known nonsense c.3226 p.Q1076* 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 93 0 0.00 110 20 15.38 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 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 94 0 0.00 97 50 34.01 - - - PIWIL1 0 genome.wustl.edu 37 12 130834441 130834441 + Missense_Mutation SNP G G A TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 12 130834441 130834441 G A SNP PIWIL1 ENST00000245255 human ensembl 69_37n +1 known missense c.973 p.D325N 1.000 pfam_PAZ,superfamily_PAZ,smart_PAZ,pfscan_PAZ 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 80 0 0.00 140 55 28.21 - - - POTED 0 genome.wustl.edu 37 21 15011930 15011930 + Missense_Mutation SNP G G C TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 21 15011930 15011930 G C SNP POTED ENST00000299443 human ensembl 69_37n +1 known missense c.1504 p.E502Q 0.018 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors POTED HGNC ENSG00000166351 212 0 0.00 190 125 39.68 - - - POU6F2 0 genome.wustl.edu 37 7 39500226 39500226 + Missense_Mutation SNP C C T TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 7 39500226 39500226 C T SNP POU6F2 ENST00000403058 human ensembl 69_37n +1 known missense c.1483 p.R495C 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU pfam_POU_specific,pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU6F2 HGNC ENSG00000106536 51 0 0.00 60 27 31.03 - - - PRR5-ARHGAP8 0 genome.wustl.edu 37 22 45204250 45204250 + Missense_Mutation SNP C C T TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 22 45204250 45204250 C T SNP PRR5-ARHGAP8 ENST00000515632 human ensembl 69_37n +1 putative missense c.392 p.T131M 0.996 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_RhoGAP_dom,pfam_CRAL-TRIO_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_RhoGAP_dom,pfscan_CRAL-TRIO_dom,pfscan_RhoGAP_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PRR5-ARHGAP8 HGNC ENSG00000248405 88 0 0.00 131 15 10.27 - - - PSMG2 0 genome.wustl.edu 37 18 12706699 12706699 + Missense_Mutation SNP G G A TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 18 12706699 12706699 G A SNP PSMG2 ENST00000317615 human ensembl 69_37n +1 known missense c.208 p.E70K 1.000 pfam_Proteasome_assmbl_chaperone_2,pirsf_Proteasome_assmbl_chp_2_euk pfam_Proteasome_assmbl_chaperone_2,pirsf_Proteasome_assmbl_chp_2_euk - no_errors PSMG2 HGNC ENSG00000128789 191 0 0.00 226 46 16.91 - - - RAPGEF6 0 genome.wustl.edu 37 5 130834231 130834231 + Missense_Mutation SNP C C G TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 5 130834231 130834231 C G SNP RAPGEF6 ENST00000509018 human ensembl 69_37n -1 known missense c.1324 p.D442H 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF6 HGNC ENSG00000158987 159 0 0.00 77 184 70.50 - - - TBP 0 genome.wustl.edu 37 6 170871055 170871055 + Silent SNP G G A TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 6 170871055 170871055 G A SNP TBP ENST00000230354 human ensembl 69_37n +1 known silent c.231 p.Q77 0.993 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 26 0 0.00 26 7 20.59 - - - TEP1 0 genome.wustl.edu 37 14 20863645 20863645 + Missense_Mutation SNP T T G TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 14 20863645 20863645 T G SNP TEP1 ENST00000262715 human ensembl 69_37n -1 known missense c.1892 p.Q631P 0.774 pfam_TROVE,pfscan_TROVE pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 167 0 0.00 126 75 37.13 - - - TET2 0 genome.wustl.edu 37 4 106190828 106190828 + Missense_Mutation SNP C C T TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 4 106190828 106190828 C T SNP TET2 ENST00000380013 human ensembl 69_37n +1 known missense c.4106 p.S1369L 1.000 NULL NULL - no_errors TET2 HGNC ENSG00000168769 116 0 0.00 51 61 54.46 - - - UBC 0 genome.wustl.edu 37 12 125396964 125396964 + Missense_Mutation SNP G G A TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 12 125396964 125396964 G A SNP UBC ENST00000339647 human ensembl 69_37n -1 known missense c.1354 p.R452C 1.000 pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors UBC HGNC ENSG00000150991 85 0 0.00 111 47 29.75 - - - USP8 0 genome.wustl.edu 37 15 50782646 50782646 + Missense_Mutation SNP C C G TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 15 50782646 50782646 C G SNP USP8 ENST00000307179 human ensembl 69_37n +1 known missense c.2158 p.P720A 1.000 NULL pfam_Peptidase_C19,pfam_DUF1873,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_Rsp5_WWP,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19 - no_errors USP8 HGNC ENSG00000138592 157 0 0.00 93 87 48.33 - - - VPS13A 0 genome.wustl.edu 37 9 79931137 79931137 + Missense_Mutation SNP A A G TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 9 79931137 79931137 A G SNP VPS13A ENST00000360280 human ensembl 69_37n +1 known missense c.4678 p.N1560D 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 52 0 0.00 79 22 21.78 - - - WDFY3 0 genome.wustl.edu 37 4 85657344 85657347 + Frame_Shift_Del DEL ATTA ATTA - TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 ATTA ATTA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 4 85657344 85657347 ATTA - DEL WDFY3 ENST00000295888 human ensembl 69_37n -1 known frame_shift_del c.6894_6891 p.K2299fs 0.710:0.668:0.549:0.236 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 471 0 0.00 343 158 31.04 - - - ZBTB3 0 genome.wustl.edu 37 11 62520584 62520584 + Missense_Mutation SNP C C T TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 11 62520584 62520584 C T SNP ZBTB3 ENST00000394807 human ensembl 69_37n -1 known missense c.703 p.D235N 0.983 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB3 HGNC ENSG00000185670 100 0 0.00 126 56 30.77 - - - ZNF525 0 genome.wustl.edu 37 19 53884186 53884186 + Silent SNP A A G TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 19 53884186 53884186 A G SNP ZNF525 ENST00000474037 human ensembl 69_37n +1 putative silent c.354 p.K118 0.001 NULL 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 ZNF525 HGNC ENSG00000203326 91 0 0.00 242 46 15.97 - - - ZNF563 0 genome.wustl.edu 37 19 12432110 12432110 + Missense_Mutation SNP T T C TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 19 12432110 12432110 T C SNP ZNF563 ENST00000293725 human ensembl 69_37n -1 known missense c.167 p.Y56C 0.371 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF563 HGNC ENSG00000188868 213 0 0.00 183 108 37.11 - - - ZNF571 0 genome.wustl.edu 37 19 38055672 38055672 + Missense_Mutation SNP G G T TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 19 38055672 38055672 G T SNP ZNF571 ENST00000328550 human ensembl 69_37n -1 known missense c.1658 p.T553N 0.994 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 ZNF571 HGNC ENSG00000180479 124 0 0.00 137 89 39.38 - - - ZNF85 0 genome.wustl.edu 37 19 21131813 21131813 + Missense_Mutation SNP G G C TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d712002-74cb-459a-b350-e9a4b49aac13 814d30f1-0842-4ace-86c2-fb1c50013484 19 21131813 21131813 G C SNP ZNF85 ENST00000328178 human ensembl 69_37n +1 known missense c.493 p.E165Q 0.033 NULL 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 49 0 0.00 49 44 47.31 - - -