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 ABCB1 0 genome.wustl.edu 37 7 87145943 87145943 + Missense_Mutation SNP C C T TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 7 87145943 87145943 C T SNP ABCB1 ENST00000265724 human ensembl 69_37n -1 known missense c.2966 p.G989E 1.000 superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB1 HGNC ENSG00000085563 141 0 0.00 168 73 30.29 - - - ABCC12 0 genome.wustl.edu 37 16 48172233 48172233 + Silent SNP T T C TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 16 48172233 48172233 T C SNP ABCC12 ENST00000311303 human ensembl 69_37n -1 known silent c.885 p.T295 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC12 HGNC ENSG00000140798 187 0 0.00 164 78 32.23 - - - ADAMTS5 0 genome.wustl.edu 37 21 28315764 28315764 + Missense_Mutation SNP T T A TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 21 28315764 28315764 T A SNP ADAMTS5 ENST00000284987 human ensembl 69_37n -1 known missense c.1340 p.D447V 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 160 0 0.00 382 100 20.75 - - - ATP2B2 0 genome.wustl.edu 37 3 10417218 10417221 + Frame_Shift_Del DEL GCAC GCAC - TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 GCAC GCAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 3 10417218 10417221 GCAC - DEL ATP2B2 ENST00000352432 human ensembl 69_37n -1 known frame_shift_del c.1312_1309 p.V437fs 1.000:1.000:1.000:1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B2 HGNC ENSG00000157087 35 0 0.00 85 23 21.30 - - - ATP2B2 0 genome.wustl.edu 37 3 10417224 10417224 + Frame_Shift_Del DEL A A - TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 3 10417224 10417224 A - DEL ATP2B2 ENST00000352432 human ensembl 69_37n -1 known frame_shift_del c.1306 p.Y436fs 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B2 HGNC ENSG00000157087 34 0 0.00 77 23 23.00 - - - ATP2B2 0 genome.wustl.edu 37 3 10417227 10417230 + Frame_Shift_Del DEL CGGG CGGG - TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 CGGG CGGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 3 10417227 10417230 CGGG - DEL ATP2B2 ENST00000352432 human ensembl 69_37n -1 known frame_shift_del c.1303_1300 p.P434fs 0.955:0.005:0.993:0.995 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B2 HGNC ENSG00000157087 33 0 0.00 75 23 23.47 - - - ATP2B2 0 genome.wustl.edu 37 3 10417234 10417235 + Frame_Shift_Del DEL GC GC - TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 GC GC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 3 10417234 10417235 GC - DEL ATP2B2 ENST00000352432 human ensembl 69_37n -1 known frame_shift_del c.1296_1295 p.C432fs 1.000:1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B2 HGNC ENSG00000157087 32 0 0.00 74 23 23.71 - - - BACH2 0 genome.wustl.edu 37 6 90660232 90660232 + Missense_Mutation SNP G G C TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 6 90660232 90660232 G C SNP BACH2 ENST00000257749 human ensembl 69_37n -1 known missense c.1593 p.D531E 0.258 NULL pfam_BTB_POZ,pfam_bZIP_1,pfam_bZIP_2,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC ENSG00000112182 75 0 0.00 22 30 57.69 - - - BDKRB1 0 genome.wustl.edu 37 14 96730708 96730708 + Missense_Mutation SNP G G A TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 14 96730708 96730708 G A SNP BDKRB1 ENST00000216629 human ensembl 69_37n +1 known missense c.689 p.R230Q 0.000 pfam_7TM_GPCR_Rhodpsn,prints_BK_rcpt_B1,prints_Brdyknn_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_BK_rcpt_B1,prints_7TM_GPCR_Rhodpsn,prints_Brdyknn_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors BDKRB1 HGNC ENSG00000100739 112 0 0.00 14 106 88.33 - - - BZRAP1 0 genome.wustl.edu 37 17 56403701 56403701 + Missense_Mutation SNP G G A TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 17 56403701 56403701 G A SNP BZRAP1 ENST00000355701 human ensembl 69_37n -1 known missense c.523 p.R175C 1.000 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 199 0 0.00 51 271 83.90 - - - CASP1 0 genome.wustl.edu 37 11 104905093 104905093 + Missense_Mutation SNP T T C TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 11 104905093 104905093 T C SNP CASP1 ENST00000436863 human ensembl 69_37n -1 known missense c.116 p.E39G 1.000 pfam_CARD,superfamily_DEATH-like,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP1 HGNC ENSG00000137752 561 1 0.18 213 107 33.44 - - - CCDC108 0 genome.wustl.edu 37 2 219894866 219894866 + Missense_Mutation SNP C C A TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 2 219894866 219894866 C A SNP CCDC108 ENST00000341552 human ensembl 69_37n -1 known missense c.1226 p.C409F 0.860 NULL superfamily_PapD-like,pfscan_Major_sperm - no_errors CCDC108 HGNC ENSG00000181378 104 0 0.00 149 44 22.80 - - - CHD2 0 genome.wustl.edu 37 15 93510696 93510696 + Silent SNP A A G TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 15 93510696 93510696 A G SNP CHD2 ENST00000557381 human ensembl 69_37n +1 putative silent c.2142 p.E714 0.954 pfam_SNF2_N pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 113 0 0.00 11 27 69.23 - - - CILP 0 genome.wustl.edu 37 15 65490491 65490491 + Missense_Mutation SNP T T A TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 15 65490491 65490491 T A SNP CILP ENST00000261883 human ensembl 69_37n -1 known missense c.2133 p.E711D 0.942 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors CILP HGNC ENSG00000138615 138 0 0.00 20 115 85.19 - - - CNOT1 0 genome.wustl.edu 37 16 58564183 58564183 + Silent SNP C C T TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 16 58564183 58564183 C T SNP CNOT1 ENST00000317147 human ensembl 69_37n -1 known silent c.6246 p.V2082 1.000 pfam_CCR4-Not_Not1_C pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 76 0 0.00 11 24 68.57 - - - CPSF4 0 genome.wustl.edu 37 7 99045885 99045885 + Missense_Mutation SNP A A C TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 7 99045885 99045885 A C SNP CPSF4 ENST00000292476 human ensembl 69_37n +1 known missense c.296 p.Y99S 1.000 smart_Znf_CCCH pfam_Znf_CCCH,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCCH,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors CPSF4 HGNC ENSG00000160917 93 0 0.00 151 42 21.76 - - - CREB3 0 genome.wustl.edu 37 9 35732815 35732815 + Missense_Mutation SNP C C A TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 9 35732815 35732815 C A SNP CREB3 ENST00000353704 human ensembl 69_37n +1 known missense c.46 p.L16M 0.999 NULL pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3 HGNC ENSG00000107175 136 0 0.00 65 88 57.52 - - - CXorf22 0 genome.wustl.edu 37 X 35984770 35984770 + Missense_Mutation SNP A A T TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf X 35984770 35984770 A T SNP CXorf22 ENST00000297866 human ensembl 69_37n +1 known missense c.1499 p.D500V 0.000 NULL superfamily_PapD-like - no_errors CXorf22 HGNC ENSG00000165164 217 0 0.00 109 94 46.08 - - - EHMT1 0 genome.wustl.edu 37 9 140676797 140676797 + Missense_Mutation SNP T T G TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 9 140676797 140676797 T G SNP EHMT1 ENST00000460843 human ensembl 69_37n +1 known missense c.2330 p.L777R 0.969 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 30 0 0.00 16 13 44.83 - - - ENSA 0 genome.wustl.edu 37 1 150601942 150601942 + Missense_Mutation SNP G G T TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 1 150601942 150601942 G T SNP ENSA ENST00000369009 human ensembl 69_37n -1 known missense c.5 p.S2Y 1.000 NULL pfam_Endosulphine - no_errors ENSA HGNC ENSG00000143420 154 0 0.00 251 49 16.33 - - - FAN1 0 genome.wustl.edu 37 15 31229401 31229401 + Frame_Shift_Del DEL C C - TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 15 31229401 31229401 C - DEL FAN1 ENST00000362065 human ensembl 69_37n +1 known frame_shift_del c.2996 p.A999fs 1.000 pfam_VRR_NUC pfam_VRR_NUC,smart_Znf_Rad18_put - no_errors FAN1 HGNC ENSG00000198690 118 0 0.00 17 36 61.02 - - - FMN1 0 genome.wustl.edu 37 15 33261324 33261324 + Missense_Mutation SNP T T C TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 15 33261324 33261324 T C SNP FMN1 ENST00000334528 human ensembl 69_37n -1 known missense c.1909 p.M637V 0.001 NULL pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,prints_Formin - no_errors FMN1 HGNC ENSG00000248905 255 0 0.00 47 93 66.43 - - - FNBP4 0 genome.wustl.edu 37 11 47753019 47753019 + Missense_Mutation SNP G G C TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 11 47753019 47753019 G C SNP FNBP4 ENST00000263773 human ensembl 69_37n -1 known missense c.1915 p.Q639E 0.586 NULL pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors FNBP4 HGNC ENSG00000109920 261 0 0.00 366 91 19.91 - - - FRMPD1 0 genome.wustl.edu 37 9 37708487 37708487 + Silent SNP C C T TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 9 37708487 37708487 C T SNP FRMPD1 ENST00000377765 human ensembl 69_37n +1 known silent c.351 p.V117 0.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD1 HGNC ENSG00000070601 76 0 0.00 72 33 31.43 - - - FZD1 0 genome.wustl.edu 37 7 90895264 90895264 + Missense_Mutation SNP T T A TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 7 90895264 90895264 T A SNP FZD1 ENST00000287934 human ensembl 69_37n +1 known missense c.1069 p.F357I 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD1 HGNC ENSG00000157240 71 0 0.00 277 38 12.06 - - - GAR1 0 genome.wustl.edu 37 4 110737351 110737351 + Missense_Mutation SNP T T G TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 4 110737351 110737351 T G SNP GAR1 ENST00000226796 human ensembl 69_37n +1 known missense c.31 p.F11V 0.977 NULL pfam_H/ACA_rnp_Gar1/Naf1,superfamily_Transl_elong_init/rib_B-barrel - no_errors GAR1 HGNC ENSG00000109534 202 0 0.00 448 82 15.47 - - - GNPAT 0 genome.wustl.edu 37 1 231406515 231406515 + Missense_Mutation SNP G G A TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 1 231406515 231406515 G A SNP GNPAT ENST00000366647 human ensembl 69_37n +1 known missense c.1291 p.A431T 0.909 NULL pfam_Acyltransferase,smart_Acyltransferase - no_errors GNPAT HGNC ENSG00000116906 140 0 0.00 168 46 21.50 - - - GPR174 0 genome.wustl.edu 37 X 78426996 78426996 + Missense_Mutation SNP T T A TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf X 78426996 78426996 T A SNP GPR174 ENST00000276077 human ensembl 69_37n +1 known missense c.492 p.N164K 0.004 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors GPR174 HGNC ENSG00000147138 177 0 0.00 105 79 42.93 - - - HNRNPU 0 genome.wustl.edu 37 1 245025803 245025803 + Missense_Mutation SNP T T A TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 1 245025803 245025803 T A SNP HNRNPU ENST00000283179 human ensembl 69_37n -1 known missense c.837 p.E279D 1.000 superfamily_ConA-like_lec_gl,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SAP_DNA-bd,pfam_Zeta_toxin_domain,superfamily_ConA-like_lec_gl,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd - no_errors HNRNPU HGNC ENSG00000153187 239 0 0.00 309 74 19.32 - - - HS6ST1 0 genome.wustl.edu 37 2 129075877 129075877 + Missense_Mutation SNP G G T TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 2 129075877 129075877 G T SNP HS6ST1 ENST00000259241 human ensembl 69_37n -1 known missense c.261 p.D87E 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors HS6ST1 HGNC ENSG00000136720 9 0 0.00 10 14 58.33 - - - KIF21B 0 genome.wustl.edu 37 1 200967640 200967640 + Missense_Mutation SNP A A C TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 1 200967640 200967640 A C SNP KIF21B ENST00000422435 human ensembl 69_37n -1 known missense c.1949 p.I650S 0.999 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 83 0 0.00 107 35 24.65 - - - LAMA3 0 genome.wustl.edu 37 18 21530014 21530014 + Missense_Mutation SNP C C T TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 18 21530014 21530014 C T SNP LAMA3 ENST00000313654 human ensembl 69_37n +1 known missense c.9533 p.P3178L 0.125 superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Growth_fac_rcpt,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,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 LAMA3 HGNC ENSG00000053747 327 0 0.00 773 153 16.52 - - - LMX1B 0 genome.wustl.edu 37 9 129458599 129458599 + Missense_Mutation SNP G G A TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 9 129458599 129458599 G A SNP LMX1B ENST00000355497 human ensembl 69_37n +1 known missense c.1090 p.D364N 1.000 NULL pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LMX1B HGNC ENSG00000136944 62 0 0.00 59 17 22.37 - - - MAGEB6 0 genome.wustl.edu 37 X 26213143 26213143 + Missense_Mutation SNP G G C TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf X 26213143 26213143 G C SNP MAGEB6 ENST00000379034 human ensembl 69_37n +1 known missense c.1180 p.A394P 0.008 pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB6 HGNC ENSG00000176746 106 0 0.00 63 41 39.05 - - - MOGAT3 0 genome.wustl.edu 37 7 100841573 100841573 + Missense_Mutation SNP G G C TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 7 100841573 100841573 G C SNP MOGAT3 ENST00000440203 human ensembl 69_37n -1 known missense c.567 p.I189M 0.063 pfam_DAGAT pfam_DAGAT - no_errors MOGAT3 HGNC ENSG00000106384 29 0 0.00 50 17 25.37 - - - MTOR 0 genome.wustl.edu 37 1 11217313 11217313 + Silent SNP C C T TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 1 11217313 11217313 C T SNP MTOR ENST00000361445 human ensembl 69_37n -1 known silent c.4365 p.E1455 1.000 superfamily_ARM-type_fold,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_FKBP_rapamycin-assoc_FKBP12-bd,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_FKBP_rapamycin-assoc_FKBP12-bd,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 120 0 0.00 111 50 31.06 - - - MUC4 0 genome.wustl.edu 37 3 195513060 195513060 + Silent SNP G G A TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 3 195513060 195513060 G A SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known silent c.5391 p.D1797 0.000 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 689 0 0.00 515 120 18.90 - - - MXRA5 0 genome.wustl.edu 37 X 3261749 3261749 + Silent SNP C C T TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf X 3261749 3261749 C T SNP MXRA5 ENST00000217939 human ensembl 69_37n -1 known silent c.126 p.T42 0.311 smart_LRR-contain_N pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC ENSG00000101825 54 0 0.00 129 21 14.00 - - - MYO15A 0 genome.wustl.edu 37 17 18022644 18022644 + Missense_Mutation SNP G G A TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 17 18022644 18022644 G A SNP MYO15A ENST00000205890 human ensembl 69_37n +1 known missense c.530 p.G177D 0.824 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 9 0 0.00 1 4 80.00 - - - NBAS 0 genome.wustl.edu 37 2 15372613 15372613 + Missense_Mutation SNP C C A TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 2 15372613 15372613 C A SNP NBAS ENST00000281513 human ensembl 69_37n -1 known missense c.6169 p.G2057W 0.000 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 65 0 0.00 84 25 22.94 - - - NUP35 0 genome.wustl.edu 37 2 184022174 184022174 + Missense_Mutation SNP T T G TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 2 184022174 184022174 T G SNP NUP35 ENST00000295119 human ensembl 69_37n +1 known missense c.542 p.F181C 1.000 pfam_RRM_NUP35_dom,pirsf_Nucleoporin_NUP53 pfam_RRM_NUP35_dom,pirsf_Nucleoporin_NUP53 - no_errors NUP35 HGNC ENSG00000163002 145 0 0.00 251 52 17.16 - - - PCDHGB7 0 genome.wustl.edu 37 5 140799111 140799111 + Missense_Mutation SNP T T G TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 5 140799111 140799111 T G SNP PCDHGB7 ENST00000398594 human ensembl 69_37n +1 known missense c.1685 p.V562G 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 19 0 0.00 1 9 90.00 - - - POLD1 0 genome.wustl.edu 37 19 50921181 50921181 + Frame_Shift_Del DEL C C - TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 19 50921181 50921181 C - DEL POLD1 ENST00000440232 human ensembl 69_37n +1 known frame_shift_del c.3301 p.P1102fs 0.998 NULL pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLD1 HGNC ENSG00000062822 30 0 0.00 15 12 44.44 - - - PRDM4 0 genome.wustl.edu 37 12 108145695 108145695 + Missense_Mutation SNP C C G TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 12 108145695 108145695 C G SNP PRDM4 ENST00000228437 human ensembl 69_37n -1 known missense c.623 p.G208A 1.000 pirsf_Znf_PRDM4 pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_Znf_PRDM4,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM4 HGNC ENSG00000110851 159 0 0.00 173 25 12.63 - - - SEPT14 0 genome.wustl.edu 37 7 55929654 55929654 + Missense_Mutation SNP T T C TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 7 55929654 55929654 T C SNP SEPT14 ENST00000388975 human ensembl 69_37n -1 known missense c.36 p.I12M 0.000 NULL pfam_Cell_div_GTP-bd,pirsf_Septin - no_errors SEPT14 HGNC ENSG00000154997 144 0 0.00 13 76 85.39 - - - SHISA6 0 genome.wustl.edu 37 17 11461131 11461131 + Missense_Mutation SNP G G A TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 17 11461131 11461131 G A SNP SHISA6 ENST00000441885 human ensembl 69_37n +1 known missense c.1166 p.R389H 0.915 NULL NULL - no_errors SHISA6 HGNC ENSG00000188803 12 0 0.00 3 6 66.67 - - - SLC2A13 0 genome.wustl.edu 37 12 40422247 40422247 + Missense_Mutation SNP C C G TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 12 40422247 40422247 C G SNP SLC2A13 ENST00000280871 human ensembl 69_37n -1 known missense c.781 p.E261Q 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Plexin-like_fold,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A13 HGNC ENSG00000151229 78 0 0.00 58 11 15.94 - - - STRBP 0 genome.wustl.edu 37 9 125898790 125898790 + Missense_Mutation SNP C C T TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 9 125898790 125898790 C T SNP STRBP ENST00000348403 human ensembl 69_37n -1 known missense c.1502 p.R501K 1.000 NULL pfam_DZF,pfam_Ds-RNA-bd,smart_DZF,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd - no_errors STRBP HGNC ENSG00000165209 204 0 0.00 232 59 20.27 - - - SYT16 0 genome.wustl.edu 37 14 62547769 62547769 + Missense_Mutation SNP C C T TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 14 62547769 62547769 C T SNP SYT16 ENST00000430451 human ensembl 69_37n +1 novel missense c.1211 p.T404M 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYT16 HGNC ENSG00000139973 81 0 0.00 3 46 93.88 - - - TCEB3B 0 genome.wustl.edu 37 18 44560555 44560555 + Missense_Mutation SNP C C T TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 18 44560555 44560555 C T SNP TCEB3B ENST00000332567 human ensembl 69_37n -1 known missense c.1081 p.V361M 0.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 89 0 0.00 91 29 24.17 - - - TCF7L1 0 genome.wustl.edu 37 2 85361198 85361198 + Silent SNP C C G TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 2 85361198 85361198 C G SNP TCF7L1 ENST00000282111 human ensembl 69_37n +1 known silent c.309 p.A103 0.997 pfam_CTNNB1-bd_N pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TCF7L1 HGNC ENSG00000152284 22 0 0.00 28 12 30.00 - - - TNRC6B 0 genome.wustl.edu 37 22 40661106 40661106 + Missense_Mutation SNP A A T TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 22 40661106 40661106 A T SNP TNRC6B ENST00000454349 human ensembl 69_37n +1 known missense c.872 p.D291V 0.983 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC ENSG00000100354 122 0 0.00 155 80 34.04 - - - TP53 0 genome.wustl.edu 37 17 7579364 7579364 + Frame_Shift_Del DEL C C - TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 17 7579364 7579364 C - DEL TP53 ENST00000269305 human ensembl 69_37n -1 known frame_shift_del c.323 p.G108fs 0.910 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 45 0 0.00 13 15 51.72 - - - USP1 0 genome.wustl.edu 37 1 62914231 62914231 + Missense_Mutation SNP T T A TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 1 62914231 62914231 T A SNP USP1 ENST00000339950 human ensembl 69_37n +1 known missense c.1516 p.C506S 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP1 HGNC ENSG00000162607 142 0 0.00 218 46 17.42 - - - VLDLR 0 genome.wustl.edu 37 9 2643403 2643403 + Missense_Mutation SNP G G A TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 9 2643403 2643403 G A SNP VLDLR ENST00000382100 human ensembl 69_37n +1 known missense c.692 p.R231H 1.000 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors VLDLR HGNC ENSG00000147852 39 0 0.00 140 44 23.91 - - - ZFYVE28 0 genome.wustl.edu 37 4 2321938 2321938 + Silent SNP G G A TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f819433a-44db-4022-abdb-d6123cfa30b2 85bbbb48-4570-41e6-9e53-b38b2d463cbf 4 2321938 2321938 G A SNP ZFYVE28 ENST00000290974 human ensembl 69_37n -1 known silent c.762 p.S254 0.923 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE28 HGNC ENSG00000159733 97 0 0.00 16 40 71.43 - - -