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 ABCC1 0 genome.wustl.edu 37 16 16146590 16146590 + Missense_Mutation SNP C C G TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 16 16146590 16146590 C G SNP ABCC1 ENST00000399408 human ensembl 69_37n +1 known missense c.1390 p.P464A 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc 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,tigrfam_Multidrug-R_assoc - no_errors ABCC1 HGNC ENSG00000103222 109 0 0.00 53 40 43.01 - - - ABCC9 0 genome.wustl.edu 37 12 22028614 22028614 + Missense_Mutation SNP G G C TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 12 22028614 22028614 G C SNP ABCC9 ENST00000261200 human ensembl 69_37n -1 known missense c.2066 p.S689C 1.000 pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC9 HGNC ENSG00000069431 159 0 0.00 125 20 13.79 - - - ACADVL 0 genome.wustl.edu 37 17 7127320 7127320 + Missense_Mutation SNP C C T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 17 7127320 7127320 C T SNP ACADVL ENST00000356839 human ensembl 69_37n +1 known missense c.1366 p.R456C 1.000 pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors ACADVL HGNC ENSG00000072778 51 0 0.00 7 7 50.00 - - - ADK 0 genome.wustl.edu 37 10 75960544 75960544 + Nonsense_Mutation SNP G G T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 10 75960544 75960544 G T SNP ADK ENST00000286621 human ensembl 69_37n +1 known nonsense c.88 p.G30* 1.000 NULL pfam_PfkB,prints_Adenokinase - no_errors ADK HGNC ENSG00000156110 69 0 0.00 14 67 82.72 - - - B4GALNT3 0 genome.wustl.edu 37 12 661326 661326 + Missense_Mutation SNP A A T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 12 661326 661326 A T SNP B4GALNT3 ENST00000266383 human ensembl 69_37n +1 known missense c.1205 p.D402V 1.000 NULL pfam_PA14,pfam_Chond_GalNAc,smart_PA14 - no_errors B4GALNT3 HGNC ENSG00000139044 49 0 0.00 47 7 12.73 - - - BMP4 0 genome.wustl.edu 37 14 54417573 54417573 + Missense_Mutation SNP T T A TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 14 54417573 54417573 T A SNP BMP4 ENST00000245451 human ensembl 69_37n -1 known missense c.404 p.N135I 0.896 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP4 HGNC ENSG00000125378 266 0 0.00 54 52 48.15 - - - BMPER 0 genome.wustl.edu 37 7 34097695 34097695 + Missense_Mutation SNP A A C TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 7 34097695 34097695 A C SNP BMPER ENST00000297161 human ensembl 69_37n +1 known missense c.952 p.N318H 0.997 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C - no_errors BMPER HGNC ENSG00000164619 126 0 0.00 48 39 44.83 - - - C17orf53 0 genome.wustl.edu 37 17 42225520 42225520 + Missense_Mutation SNP G G C TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 17 42225520 42225520 G C SNP C17orf53 ENST00000319977 human ensembl 69_37n +1 known missense c.349 p.V117L 0.013 NULL NULL - no_errors C17orf53 HGNC ENSG00000125319 332 0 0.00 38 105 73.43 - - - C1GALT1 0 genome.wustl.edu 37 7 7274170 7274170 + Missense_Mutation SNP G G A TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 7 7274170 7274170 G A SNP C1GALT1 ENST00000223122 human ensembl 69_37n +1 known missense c.220 p.D74N 1.000 NULL pfam_Fringe-like,pfam_Glyco_trans_31 - no_errors C1GALT1 HGNC ENSG00000106392 148 0 0.00 115 96 45.50 - - - CCAR1 0 genome.wustl.edu 37 10 70531055 70531055 + Missense_Mutation SNP G G C TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 10 70531055 70531055 G C SNP CCAR1 ENST00000265872 human ensembl 69_37n +1 known missense c.2391 p.E797D 1.000 NULL pfam_SAP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors CCAR1 HGNC ENSG00000060339 131 0 0.00 188 157 45.51 - - - CD163L1 0 genome.wustl.edu 37 12 7556211 7556211 + Nonsense_Mutation SNP G G T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 12 7556211 7556211 G T SNP CD163L1 ENST00000313599 human ensembl 69_37n -1 known nonsense c.1328 p.S443* 0.989 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors CD163L1 HGNC ENSG00000177675 323 0 0.00 600 148 19.76 - - - CDK5RAP2 0 genome.wustl.edu 37 9 123280815 123280815 + Missense_Mutation SNP T T G TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 9 123280815 123280815 T G SNP CDK5RAP2 ENST00000349780 human ensembl 69_37n -1 known missense c.1201 p.I401L 0.006 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 257 0 0.00 147 117 44.32 - - - CFHR4 0 genome.wustl.edu 37 1 196879568 196879568 + Missense_Mutation SNP C C A TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 1 196879568 196879568 C A SNP CFHR4 ENST00000367416 human ensembl 69_37n +1 known missense c.954 p.H318Q 0.011 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR4 HGNC ENSG00000134365 200 0 0.00 130 103 44.21 - - - COL14A1 0 genome.wustl.edu 37 8 121170400 121170400 + Silent SNP A A G TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 8 121170400 121170400 A G SNP COL14A1 ENST00000297848 human ensembl 69_37n +1 known silent c.120 p.V40 0.029 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 83 0 0.00 127 55 30.22 - - - CPEB3 0 genome.wustl.edu 37 10 93952303 93952303 + Missense_Mutation SNP C C G TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 10 93952303 93952303 C G SNP CPEB3 ENST00000265997 human ensembl 69_37n -1 known missense c.1096 p.G366R 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB3 HGNC ENSG00000107864 173 0 0.00 101 190 65.07 - - - CPN2 0 genome.wustl.edu 37 3 194062839 194062839 + Missense_Mutation SNP A A T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 3 194062839 194062839 A T SNP CPN2 ENST00000323830 human ensembl 69_37n -1 known missense c.593 p.L198Q 0.997 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors CPN2 HGNC ENSG00000178772 40 0 0.00 24 16 40.00 - - - CREBBP 0 genome.wustl.edu 37 16 3778897 3778898 + Frame_Shift_Ins INS - - C TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 16 3778897 3778898 - C INS CREBBP ENST00000262367 human ensembl 69_37n -1 known frame_shift_ins c.6151_6150 p.P2050fs 1.000:1.000 pfam_Nuc_rcpt_coact_CREBbp pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 18 0 0.00 4 2 33.33 - - - CYP3A4 0 genome.wustl.edu 37 7 99358487 99358487 + Silent SNP G G T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 7 99358487 99358487 G T SNP CYP3A4 ENST00000336411 human ensembl 69_37n -1 known silent c.1371 p.I457 0.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP3A4 HGNC ENSG00000160868 327 0 0.00 264 227 46.23 - - - DENND1A 0 genome.wustl.edu 37 9 126371761 126371761 + Splice_Site SNP C C G TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 9 126371761 126371761 C G SNP DENND1A ENST00000394219 human ensembl 69_37n -1 known splice_site c.624-1 e9-1 1.000 - - - no_errors DENND1A HGNC ENSG00000119522 123 0 0.00 58 44 43.14 - - - DENND3 0 genome.wustl.edu 37 8 142146809 142146809 + Missense_Mutation SNP C C G TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 8 142146809 142146809 C G SNP DENND3 ENST00000262585 human ensembl 69_37n +1 known missense c.64 p.P22A 0.000 pfscan_uDENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom - no_errors DENND3 HGNC ENSG00000105339 16 0 0.00 11 4 26.67 - - - DUSP27 0 genome.wustl.edu 37 1 167095371 167095371 + Missense_Mutation SNP G G T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 1 167095371 167095371 G T SNP DUSP27 ENST00000271385 human ensembl 69_37n +1 known missense c.1003 p.A335S 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC ENSG00000198842 23 0 0.00 3 6 66.67 - - - DYNC2H1 0 genome.wustl.edu 37 11 103014002 103014002 + Missense_Mutation SNP G G T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 11 103014002 103014002 G T SNP DYNC2H1 ENST00000398093 human ensembl 69_37n +1 known missense c.2580 p.W860C 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 241 0 0.00 197 272 58.00 - - - ELTD1 0 genome.wustl.edu 37 1 79383583 79383583 + Silent SNP A A G TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 1 79383583 79383583 A G SNP ELTD1 ENST00000370742 human ensembl 69_37n -1 known silent c.1614 p.Y538 0.996 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd,smart_EGF-like,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 298 1 0.33 44 167 79.15 - - - ENTPD7 0 genome.wustl.edu 37 10 101451204 101451204 + Missense_Mutation SNP G G T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 10 101451204 101451204 G T SNP ENTPD7 ENST00000370489 human ensembl 69_37n +1 known missense c.772 p.D258Y 1.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD7 HGNC ENSG00000198018 101 0 0.00 67 83 54.97 - - - EPB41L3 0 genome.wustl.edu 37 18 5406867 5406867 + Missense_Mutation SNP T T C TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 18 5406867 5406867 T C SNP EPB41L3 ENST00000341928 human ensembl 69_37n -1 known missense c.2258 p.N753S 0.857 pirsf_Band_41_protein,pfam_SAB pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors EPB41L3 HGNC ENSG00000082397 129 0 0.00 61 11 15.28 - - - FAM111A 0 genome.wustl.edu 37 11 58919851 58919853 + In_Frame_Del DEL ATG ATG - TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 ATG ATG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 11 58919851 58919853 ATG - DEL FAM111A ENST00000361723 human ensembl 69_37n +1 known in_frame_del c.710_712 p.D239in_frame_del 0.003:0.000:0.000 NULL pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like - no_errors FAM111A HGNC ENSG00000166801 318 0 0.00 147 102 40.96 - - - FASTKD1 0 genome.wustl.edu 37 2 170393757 170393757 + Missense_Mutation SNP G G C TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 2 170393757 170393757 G C SNP FASTKD1 ENST00000453153 human ensembl 69_37n -1 known missense c.2168 p.T723R 1.000 pfam_FAST_2 pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD1 HGNC ENSG00000138399 187 0 0.00 159 120 42.55 - - - FASTKD3 0 genome.wustl.edu 37 5 7867856 7867856 + Missense_Mutation SNP T T A TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 5 7867856 7867856 T A SNP FASTKD3 ENST00000264669 human ensembl 69_37n -1 known missense c.341 p.E114V 0.988 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD3 HGNC ENSG00000124279 148 0 0.00 50 50 50.00 - - - FBN3 0 genome.wustl.edu 37 19 8130918 8130919 + Frame_Shift_Del DEL GT GT - TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 19 8130918 8130919 GT - DEL FBN3 ENST00000270509 human ensembl 69_37n -1 known frame_shift_del c.8315_8314 p.T2772fs 0.972:0.962 pirsf_Fibrillin pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 18 0 0.00 6 3 33.33 - - - FBXO18 0 genome.wustl.edu 37 10 5951233 5951233 + Silent SNP C C A TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 10 5951233 5951233 C A SNP FBXO18 ENST00000379999 human ensembl 69_37n +1 known silent c.1149 p.L383 0.161 NULL pfam_UvrD-like_ATP-bd,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO18 HGNC ENSG00000134452 63 0 0.00 50 17 25.37 - - - FCGBP 0 genome.wustl.edu 37 19 40392008 40392008 + Missense_Mutation SNP G G A TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 19 40392008 40392008 G A SNP FCGBP ENST00000221347 human ensembl 69_37n -1 known missense c.8378 p.A2793V 0.014 smart_VWC_out,smart_VWF_C pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 43 0 0.00 25 3 10.71 - - - FCN2 0 genome.wustl.edu 37 9 137774483 137774483 + Missense_Mutation SNP G G C TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 9 137774483 137774483 G C SNP FCN2 ENST00000291744 human ensembl 69_37n +1 known missense c.212 p.R71T 0.043 pfam_Collagen pfam_Fibrinogen_a/b/g_C,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors FCN2 HGNC ENSG00000160339 28 0 0.00 15 9 37.50 - - - FKBP15 0 genome.wustl.edu 37 9 115983521 115983521 + Missense_Mutation SNP C C T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 9 115983521 115983521 C T SNP FKBP15 ENST00000238256 human ensembl 69_37n -1 known missense c.3 p.M1I 1.000 NULL pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom - no_errors FKBP15 HGNC ENSG00000119321 10 0 0.00 2 9 81.82 - - - FUBP1 0 genome.wustl.edu 37 1 78414864 78414864 + Missense_Mutation SNP C C T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 1 78414864 78414864 C T SNP FUBP1 ENST00000436586 human ensembl 69_37n -1 known missense c.1965 p.M655I 1.000 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FUBP1 HGNC ENSG00000162613 178 0 0.00 18 101 80.16 - - - FXYD5 0 genome.wustl.edu 37 19 35655126 35655126 + Frame_Shift_Del DEL C C - TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 19 35655126 35655126 C - DEL FXYD5 ENST00000342879 human ensembl 69_37n +1 known frame_shift_del c.360 p.Q122fs 0.002 NULL pfam_Ion-transport_regulator_FXYD - no_errors FXYD5 HGNC ENSG00000089327 131 0 0.00 58 33 35.48 - - - GALNT9 0 genome.wustl.edu 37 12 132685675 132685675 + Missense_Mutation SNP G G A TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 12 132685675 132685675 G A SNP GALNT9 ENST00000411988 human ensembl 69_37n -1 novel missense c.712 p.R238W 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region GALNT9 HGNC ENSG00000182870 40 0 0.00 3 4 57.14 - - - GDF3 0 genome.wustl.edu 37 12 7842748 7842748 + Missense_Mutation SNP C C T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 12 7842748 7842748 C T SNP GDF3 ENST00000329913 human ensembl 69_37n -1 known missense c.821 p.R274Q 0.891 pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF3 HGNC ENSG00000184344 122 0 0.00 241 126 34.24 - - - GPR98 0 genome.wustl.edu 37 5 89949195 89949195 + Missense_Mutation SNP C C A TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 5 89949195 89949195 C A SNP GPR98 ENST00000405460 human ensembl 69_37n +1 known missense c.3804 p.N1268K 1.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 134 0 0.00 15 61 80.26 - - - GRM5 0 genome.wustl.edu 37 11 88780577 88780577 + Missense_Mutation SNP G G A TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 11 88780577 88780577 G A SNP GRM5 ENST00000305447 human ensembl 69_37n -1 known missense c.464 p.A155V 1.000 pfam_ANF_lig-bd_rcpt,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1 - no_errors GRM5 HGNC ENSG00000168959 129 0 0.00 143 44 23.53 - - - GZMA 0 genome.wustl.edu 37 5 54398559 54398559 + Missense_Mutation SNP T T C TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 5 54398559 54398559 T C SNP GZMA ENST00000274306 human ensembl 69_37n +1 known missense c.49 p.S17P 0.812 superfamily_Pept_cys/ser_Trypsin-like pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors GZMA HGNC ENSG00000145649 191 0 0.00 116 82 41.41 - - - HEPHL1 0 genome.wustl.edu 37 11 93839282 93839282 + Missense_Mutation SNP A A G TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 11 93839282 93839282 A G SNP HEPHL1 ENST00000315765 human ensembl 69_37n +1 known missense c.3031 p.S1011G 1.000 pfam_Cu-oxidase_2,superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPHL1 HGNC ENSG00000181333 316 0 0.00 221 289 56.67 - - - HLA-J 0 genome.wustl.edu 37 6 29974685 29974685 + RNA SNP A A G TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 6 29974685 29974685 A G SNP HLA-J ENST00000462773 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors HLA-J HGNC ENSG00000204622 17 0 0.00 8 6 42.86 - - - HPSE2 0 genome.wustl.edu 37 10 100904059 100904059 + Silent SNP A A G TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 10 100904059 100904059 A G SNP HPSE2 ENST00000370552 human ensembl 69_37n -1 known silent c.546 p.A182 1.000 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE2 HGNC ENSG00000172987 293 0 0.00 239 96 28.66 - - - IGSF8 0 genome.wustl.edu 37 1 160062779 160062779 + Missense_Mutation SNP C C T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 1 160062779 160062779 C T SNP IGSF8 ENST00000314485 human ensembl 69_37n -1 known missense c.1247 p.G416E 0.994 smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors IGSF8 HGNC ENSG00000162729 113 0 0.00 19 18 48.65 - - - IL17RB 0 genome.wustl.edu 37 3 53892827 53892827 + Missense_Mutation SNP C C T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 3 53892827 53892827 C T SNP IL17RB ENST00000288167 human ensembl 69_37n +1 known missense c.829 p.P277S 0.000 NULL pfam_SEFIR - no_errors IL17RB HGNC ENSG00000056736 73 0 0.00 4 13 76.47 - - - ITGAV 0 genome.wustl.edu 37 2 187540546 187540546 + Splice_Site SNP G G T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 2 187540546 187540546 G T SNP ITGAV ENST00000261023 human ensembl 69_37n +1 known splice_site c.2821-1 e28-1 1.000 - - - no_errors ITGAV HGNC ENSG00000138448 67 0 0.00 126 55 30.39 - - - KCNS2 0 genome.wustl.edu 37 8 99441462 99441462 + Missense_Mutation SNP C C T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 8 99441462 99441462 C T SNP KCNS2 ENST00000287042 human ensembl 69_37n +1 known missense c.1255 p.R419C 1.000 prints_K_chnl_volt-dep_Kv2 pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS2 HGNC ENSG00000156486 175 0 0.00 26 19 42.22 - - - KCNU1 0 genome.wustl.edu 37 8 36768470 36768470 + Missense_Mutation SNP A A T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 8 36768470 36768470 A T SNP KCNU1 ENST00000399881 human ensembl 69_37n +1 known missense c.2354 p.D785V 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 149 0 0.00 105 61 35.67 - - - KDM2B 0 genome.wustl.edu 37 12 121878934 121878934 + Silent SNP G G T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 12 121878934 121878934 G T SNP KDM2B ENST00000377071 human ensembl 69_37n -1 known silent c.3387 p.L1129 0.984 NULL pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC ENSG00000089094 54 0 0.00 9 6 40.00 - - - KDM5A 0 genome.wustl.edu 37 12 493214 493214 + Missense_Mutation SNP G G T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 12 493214 493214 G T SNP KDM5A ENST00000399788 human ensembl 69_37n -1 known missense c.349 p.L117M 1.000 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 271 0 0.00 213 76 26.30 - - - KIR2DS4 0 genome.wustl.edu 37 19 55350924 55350924 + Missense_Mutation SNP A A G TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 19 55350924 55350924 A G SNP KIR2DS4 ENST00000339924 human ensembl 69_37n +1 known missense c.412 p.T138A 0.000 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region KIR2DS4 HGNC ENSG00000221957 1116 6 0.52 537 377 40.02 - - - LEPREL1 0 genome.wustl.edu 37 3 189711948 189711948 + Missense_Mutation SNP C C A TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 3 189711948 189711948 C A SNP LEPREL1 ENST00000319332 human ensembl 69_37n -1 known missense c.758 p.G253V 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPREL1 HGNC ENSG00000090530 144 0 0.00 190 86 31.16 - - - LPIN3 0 genome.wustl.edu 37 20 39980756 39980756 + Missense_Mutation SNP G G A TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 20 39980756 39980756 G A SNP LPIN3 ENST00000373257 human ensembl 69_37n +1 known missense c.1259 p.R420K 0.000 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN3 HGNC ENSG00000132793 164 0 0.00 51 39 43.33 - - - LRRCC1 0 genome.wustl.edu 37 8 86053669 86053669 + Missense_Mutation SNP G G C TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 8 86053669 86053669 G C SNP LRRCC1 ENST00000360375 human ensembl 69_37n +1 known missense c.2893 p.D965H 0.991 superfamily_Prefoldin pfam_Leu-rich_rpt,superfamily_Prefoldin - no_errors LRRCC1 HGNC ENSG00000133739 73 0 0.00 44 28 38.89 - - - MAP1A 0 genome.wustl.edu 37 15 43818728 43818728 + Missense_Mutation SNP G G C TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 15 43818728 43818728 G C SNP MAP1A ENST00000399453 human ensembl 69_37n +1 known missense c.5057 p.R1686T 0.039 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 111 0 0.00 14 72 83.72 - - - MAP3K5 0 genome.wustl.edu 37 6 137019731 137019731 + Missense_Mutation SNP C C G TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 6 137019731 137019731 C G SNP MAP3K5 ENST00000359015 human ensembl 69_37n -1 known missense c.702 p.L234F 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,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 MAP3K5 HGNC ENSG00000197442 141 0 0.00 89 70 44.03 - - - MAP3K8 0 genome.wustl.edu 37 10 30728142 30728142 + Missense_Mutation SNP C C G TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 10 30728142 30728142 C G SNP MAP3K8 ENST00000263056 human ensembl 69_37n +1 known missense c.275 p.S92C 1.000 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 - no_errors MAP3K8 HGNC ENSG00000107968 149 0 0.00 118 50 29.76 - - - MCM4 0 genome.wustl.edu 37 8 48883292 48883292 + Silent SNP G G A TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 8 48883292 48883292 G A SNP MCM4 ENST00000262105 human ensembl 69_37n +1 known silent c.1656 p.E552 1.000 pfam_MCM_DNA-dep_ATPase,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase - no_errors MCM4 HGNC ENSG00000104738 118 1 0.84 42 46 52.27 - - - MYH11 0 genome.wustl.edu 37 16 15802686 15802687 + Frame_Shift_Ins INS - - G TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 16 15802686 15802687 - G INS MYH11 ENST00000452625 human ensembl 69_37n -1 known frame_shift_ins c.5820_5819 p.Q1941fs 1.000:1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 18 0 0.00 17 2 10.53 - - - NFATC4 0 genome.wustl.edu 37 14 24846878 24846878 + Missense_Mutation SNP C C G TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 14 24846878 24846878 C G SNP NFATC4 ENST00000556279 human ensembl 69_37n +1 known missense c.2772 p.F924L 1.000 NULL pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC4 HGNC ENSG00000100968 80 0 0.00 14 11 44.00 - - - NLRP3 0 genome.wustl.edu 37 1 247608079 247608079 + Missense_Mutation SNP C C A TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 1 247608079 247608079 C A SNP NLRP3 ENST00000336119 human ensembl 69_37n +1 known missense c.2967 p.F989L 0.993 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP3 HGNC ENSG00000162711 95 0 0.00 35 24 40.68 - - - NPAS4 0 genome.wustl.edu 37 11 66192385 66192385 + Nonsense_Mutation SNP C C A TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 11 66192385 66192385 C A SNP NPAS4 ENST00000311034 human ensembl 69_37n +1 known nonsense c.2024 p.S675* 0.177 NULL pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 165 0 0.00 36 21 36.84 - - - NR2E3 0 genome.wustl.edu 37 15 72106381 72106381 + RNA SNP C C T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 15 72106381 72106381 C T SNP NR2E3 ENST00000326995 human ensembl 69_37n +1 known rna NULL NULL 0.744 - - - no_errors NR2E3 HGNC ENSG00000031544 48 0 0.00 2 6 75.00 - - - OAS2 0 genome.wustl.edu 37 12 113440772 113440772 + Silent SNP G G C TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 12 113440772 113440772 G C SNP OAS2 ENST00000342315 human ensembl 69_37n +1 known silent c.1044 p.L348 0.085 NULL pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS2 HGNC ENSG00000111335 551 0 0.00 62 404 86.70 - - - OR1D5 0 genome.wustl.edu 37 17 2966828 2966828 + Missense_Mutation SNP C C T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 17 2966828 2966828 C T SNP OR1D5 ENST00000575751 human ensembl 69_37n -1 known missense c.74 p.R25Q 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR1D5 Clone_based_vega_gene ENSG00000262628 165 0 0.00 22 11 33.33 - - - OR4D6 0 genome.wustl.edu 37 11 59224890 59224890 + Missense_Mutation SNP G G T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 11 59224890 59224890 G T SNP OR4D6 ENST00000300127 human ensembl 69_37n +1 known missense c.457 p.G153C 0.001 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4D6 HGNC ENSG00000166884 362 0 0.00 221 177 44.47 - - - OR52A1 0 genome.wustl.edu 37 11 5173461 5173461 + Missense_Mutation SNP G G T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 11 5173461 5173461 G T SNP OR52A1 ENST00000328942 human ensembl 69_37n -1 known missense c.139 p.L47I 0.284 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR52A1 HGNC ENSG00000182070 124 0 0.00 16 67 80.72 - - - OSCP1 0 genome.wustl.edu 37 1 36883811 36883811 + Missense_Mutation SNP C C G TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 1 36883811 36883811 C G SNP OSCP1 ENST00000235532 human ensembl 69_37n -1 known missense c.1069 p.E357Q 0.996 NULL pfam_OSCP1 - no_errors OSCP1 HGNC ENSG00000116885 106 0 0.00 12 39 76.47 - - - PABPC1 0 genome.wustl.edu 37 8 101717869 101717869 + Missense_Mutation SNP C C G TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 8 101717869 101717869 C G SNP PABPC1 ENST00000318607 human ensembl 69_37n -1 known missense c.1635 p.L545F 1.000 pfam_PABP_HYD,superfamily_PABP_HYD,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC1 HGNC ENSG00000070756 98 0 0.00 49 35 41.67 - - - PDE3A 0 genome.wustl.edu 37 12 20807084 20807084 + Silent SNP G G A TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 12 20807084 20807084 G A SNP PDE3A ENST00000359062 human ensembl 69_37n +1 known silent c.3129 p.E1043 0.998 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 298 0 0.00 194 137 41.39 - - - PLCZ1 0 genome.wustl.edu 37 12 18852835 18852835 + Nonsense_Mutation SNP G G C TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 12 18852835 18852835 G C SNP PLCZ1 ENST00000540270 human ensembl 69_37n -1 known nonsense c.681 p.Y227* 1.000 pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PLCZ1 HGNC ENSG00000139151 108 0 0.00 91 62 40.52 - - - POTEH 0 genome.wustl.edu 37 22 16277842 16277842 + Missense_Mutation SNP C C T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 22 16277842 16277842 C T SNP POTEH ENST00000343518 human ensembl 69_37n -1 known missense c.1072 p.V358I 0.059 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEH HGNC ENSG00000198062 21 0 0.00 27 6 18.18 - - - PPIG 0 genome.wustl.edu 37 2 170487451 170487451 + Nonsense_Mutation SNP C C T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 2 170487451 170487451 C T SNP PPIG ENST00000260970 human ensembl 69_37n +1 known nonsense c.715 p.R239* 1.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIG HGNC ENSG00000138398 186 0 0.00 40 258 86.29 - - - PPP1R3A 0 genome.wustl.edu 37 7 113519707 113519707 + Missense_Mutation SNP T T A TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 7 113519707 113519707 T A SNP PPP1R3A ENST00000284601 human ensembl 69_37n -1 known missense c.1440 p.K480N 0.036 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 292 0 0.00 178 128 41.69 - - - PPP1R3A 0 genome.wustl.edu 37 7 113520011 113520011 + Missense_Mutation SNP G G A TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 7 113520011 113520011 G A SNP PPP1R3A ENST00000284601 human ensembl 69_37n -1 known missense c.1136 p.S379L 1.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 500 0 0.00 305 214 41.23 - - - PRELID1P1 0 genome.wustl.edu 37 6 126965425 126965425 + RNA DEL C C - TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 6 126965425 126965425 C - DEL PRELID1P1 ENST00000567272 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors PRELID1P1 HGNC ENSG00000217325 32 0 0.00 8 5 38.46 - - - PRRT1 0 genome.wustl.edu 37 6 32119594 32119594 + Missense_Mutation SNP T T C TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 6 32119594 32119594 T C SNP PRRT1 ENST00000211413 human ensembl 69_37n -1 known missense c.11 p.E4G 0.999 NULL pfam_Interferon-induced_TM_protein - no_errors PRRT1 HGNC ENSG00000204314 21 0 0.00 4 4 50.00 - - - PTPRZ1 0 genome.wustl.edu 37 7 121659211 121659211 + Missense_Mutation SNP G G T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 7 121659211 121659211 G T SNP PTPRZ1 ENST00000393386 human ensembl 69_37n +1 known missense c.4877 p.G1626V 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a - no_errors PTPRZ1 HGNC ENSG00000106278 65 0 0.00 56 30 34.88 - - - QPCTL 0 genome.wustl.edu 37 19 46196806 46196806 + Missense_Mutation SNP G G C TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 19 46196806 46196806 G C SNP QPCTL ENST00000012049 human ensembl 69_37n +1 known missense c.343 p.V115L 1.000 NULL pfam_Peptidase_M28 - no_errors QPCTL HGNC ENSG00000011478 90 0 0.00 28 28 50.00 - - - RABGGTA 0 genome.wustl.edu 37 14 24736910 24736910 + Missense_Mutation SNP T T G TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 14 24736910 24736910 T G SNP RABGGTA ENST00000216840 human ensembl 69_37n -1 known missense c.1309 p.K437Q 1.000 NULL pfam_Prenyl_trans_a,pfam_RabGGT_asu_insert-domain,pfam_Leu-rich_rpt,superfamily_RabGGT_asu_insert-domain,pfscan_Prenyl_trans_a - no_errors RABGGTA HGNC ENSG00000100949 78 0 0.00 15 12 44.44 - - - RBMX 0 genome.wustl.edu 37 X 135960146 135960147 + Frame_Shift_Ins INS - - AA TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 X 135960146 135960147 - AA INS RBMX ENST00000320676 human ensembl 69_37n -1 known frame_shift_ins c.316_315 p.P105fs 1.000:1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMX HGNC ENSG00000147274 115 0 0.00 52 7 11.86 - - - RFC1 0 genome.wustl.edu 37 4 39304714 39304714 + Missense_Mutation SNP C C A TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 4 39304714 39304714 C A SNP RFC1 ENST00000381897 human ensembl 69_37n -1 known missense c.2171 p.G724V 1.000 pfam_ATPase_AAA_core,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom - no_errors RFC1 HGNC ENSG00000035928 335 0 0.00 119 83 41.09 - - - RGPD1 0 genome.wustl.edu 37 2 87211939 87211939 + Missense_Mutation SNP C C G TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 2 87211939 87211939 C G SNP RGPD1 ENST00000398193 human ensembl 69_37n +1 known missense c.2644 p.L882V 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_2,pfam_TPR-1,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD1 HGNC ENSG00000187627 56 0 0.00 37 12 24.49 - - - RGPD2 0 genome.wustl.edu 37 2 88084626 88084626 + Missense_Mutation SNP G G C TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 2 88084626 88084626 G C SNP RGPD2 ENST00000398146 human ensembl 69_37n -1 known missense c.2644 p.L882V 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_2,pfam_TPR-1,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD2 HGNC ENSG00000185304 43 0 0.00 13 8 38.10 - - - RRN3P3 0 genome.wustl.edu 37 16 22444131 22444131 + RNA SNP T T C TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 16 22444131 22444131 T C SNP RRN3P3 ENST00000551766 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors RRN3P3 HGNC ENSG00000257122 41 0 0.00 16 9 36.00 - - - SCRN1 0 genome.wustl.edu 37 7 30008626 30008626 + Missense_Mutation SNP C C T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 7 30008626 30008626 C T SNP SCRN1 ENST00000434476 human ensembl 69_37n -1 known missense c.118 p.G40S 0.967 NULL pfam_Peptidase_C69 - no_errors SCRN1 HGNC ENSG00000136193 268 0 0.00 97 72 42.60 - - - SLC22A6 0 genome.wustl.edu 37 11 62747289 62747289 + Missense_Mutation SNP T T A TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 11 62747289 62747289 T A SNP SLC22A6 ENST00000377871 human ensembl 69_37n -1 known missense c.1169 p.N390I 0.992 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A6 HGNC ENSG00000197901 89 0 0.00 48 37 42.05 - - - SNORD118 0 genome.wustl.edu 37 17 8076904 8076904 + RNA SNP G G T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 17 8076904 8076904 G T SNP SNORD118 ENST00000363593 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors SNORD118 HGNC ENSG00000200463 152 0 0.00 63 58 47.93 - - - SNPH 0 genome.wustl.edu 37 20 1276924 1276925 + Frame_Shift_Ins INS - - C TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 20 1276924 1276925 - C INS SNPH ENST00000381867 human ensembl 69_37n +1 known frame_shift_ins c.41_42 p.A16fs 0.967:0.968 NULL NULL - no_errors SNPH HGNC ENSG00000101298 11 0 0.00 2 2 50.00 - - - SOX10 0 genome.wustl.edu 37 22 38369664 38369664 + Silent SNP G G A TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 22 38369664 38369664 G A SNP SOX10 ENST00000360880 human ensembl 69_37n -1 known silent c.1239 p.G413 1.000 NULL pfam_Sox_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX10 HGNC ENSG00000100146 29 0 0.00 12 7 33.33 - - - SP1 0 genome.wustl.edu 37 12 53776045 53776045 + Missense_Mutation SNP A A G TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 12 53776045 53776045 A G SNP SP1 ENST00000327443 human ensembl 69_37n +1 known missense c.314 p.N105S 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP1 HGNC ENSG00000185591 84 0 0.00 0 13 100.00 - - - SSTR3 0 genome.wustl.edu 37 22 37603630 37603630 + Silent SNP C C A TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 22 37603630 37603630 C A SNP SSTR3 ENST00000328544 human ensembl 69_37n -1 known silent c.213 p.R71 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_Somatstn_rcpt_3,prints_7TM_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Somatstn_rcpt_5,prints_Neuropept_W_rcpt - no_errors SSTR3 HGNC ENSG00000183473 31 0 0.00 7 6 46.15 - - - STXBP5 0 genome.wustl.edu 37 6 147655358 147655358 + Missense_Mutation SNP G G C TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 6 147655358 147655358 G C SNP STXBP5 ENST00000321680 human ensembl 69_37n +1 known missense c.2146 p.G716R 1.000 NULL pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5 HGNC ENSG00000164506 59 0 0.00 122 44 26.51 - - - TAF3 0 genome.wustl.edu 37 10 8055756 8055756 + Silent SNP G G A TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 10 8055756 8055756 G A SNP TAF3 ENST00000344293 human ensembl 69_37n +1 known silent c.2631 p.G877 0.244 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors TAF3 HGNC ENSG00000165632 124 0 0.00 189 27 12.50 - - - TET3 0 genome.wustl.edu 37 2 74275189 74275189 + Missense_Mutation SNP G G C TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 2 74275189 74275189 G C SNP TET3 ENST00000409262 human ensembl 69_37n +1 known missense c.1740 p.E580D 1.000 NULL NULL - no_errors TET3 HGNC ENSG00000187605 62 0 0.00 43 5 10.42 - - - TLN1 0 genome.wustl.edu 37 9 35698399 35698399 + Frame_Shift_Del DEL A A - TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 9 35698399 35698399 A - DEL TLN1 ENST00000314888 human ensembl 69_37n -1 known frame_shift_del c.7292 p.V2431fs 1.000 pfam_ILWEQ,smart_ILWEQ,pfscan_ILWEQ pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ - no_errors TLN1 HGNC ENSG00000137076 34 0 0.00 14 6 30.00 - - - TMEM132B 0 genome.wustl.edu 37 12 125834179 125834179 + Silent SNP C C G TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 12 125834179 125834179 C G SNP TMEM132B ENST00000299308 human ensembl 69_37n +1 known silent c.234 p.A78 0.996 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 363 0 0.00 226 141 38.32 - - - TNFRSF19 0 genome.wustl.edu 37 13 24243187 24243187 + Missense_Mutation SNP A A T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 13 24243187 24243187 A T SNP TNFRSF19 ENST00000382258 human ensembl 69_37n +1 known missense c.1196 p.D399V 0.000 NULL smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_19 - no_errors TNFRSF19 HGNC ENSG00000127863 80 0 0.00 73 90 55.21 - - - TP53 0 genome.wustl.edu 37 17 7578416 7578419 + Frame_Shift_Del DEL CCTC CCTC - TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 CCTC CCTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 17 7578416 7578419 CCTC - DEL TP53 ENST00000269305 human ensembl 69_37n -1 known frame_shift_del c.514_511 p.E171fs 1.000:1.000:1.000:1.000 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 122 0 0.00 20 88 80.73 - - - TRERF1 0 genome.wustl.edu 37 6 42231282 42231282 + Missense_Mutation SNP G G T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 6 42231282 42231282 G T SNP TRERF1 ENST00000541110 human ensembl 69_37n -1 known missense c.1660 p.P554T 0.998 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 69 0 0.00 57 11 16.18 - - - TRHDE 0 genome.wustl.edu 37 12 73014965 73014965 + Silent SNP T T C TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 12 73014965 73014965 T C SNP TRHDE ENST00000261180 human ensembl 69_37n +1 known silent c.2412 p.V804 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 155 0 0.00 119 85 41.67 - - - TRIM23 0 genome.wustl.edu 37 5 64913932 64913932 + Missense_Mutation SNP C C G TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 5 64913932 64913932 C G SNP TRIM23 ENST00000231524 human ensembl 69_37n -1 known missense c.232 p.V78L 1.000 NULL pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_Znf_C2H2,tigrfam_Small_GTP-bd_dom - no_errors TRIM23 HGNC ENSG00000113595 102 0 0.00 7 54 88.52 - - - TRIM60 0 genome.wustl.edu 37 4 165961479 165961479 + Silent SNP G G A TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 4 165961479 165961479 G A SNP TRIM60 ENST00000341062 human ensembl 69_37n +1 known silent c.255 p.R85 0.833 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM60 HGNC ENSG00000176979 152 0 0.00 25 76 75.25 - - - TROAP 0 genome.wustl.edu 37 12 49717740 49717740 + Missense_Mutation SNP G G T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 12 49717740 49717740 G T SNP TROAP ENST00000257909 human ensembl 69_37n +1 known missense c.257 p.S86I 0.015 NULL NULL - no_errors TROAP HGNC ENSG00000135451 244 1 0.41 25 87 77.68 - - - TRUB1 0 genome.wustl.edu 37 10 116710862 116710862 + Missense_Mutation SNP T T A TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 10 116710862 116710862 T A SNP TRUB1 ENST00000298746 human ensembl 69_37n +1 known missense c.395 p.I132N 1.000 pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom,tigrfam_tRNA_psdUridine_synth_TruB pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom,tigrfam_tRNA_psdUridine_synth_TruB - no_errors TRUB1 HGNC ENSG00000165832 267 0 0.00 209 365 63.59 - - - TSHZ2 0 genome.wustl.edu 37 20 51872574 51872574 + Missense_Mutation SNP G G T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 20 51872574 51872574 G T SNP TSHZ2 ENST00000371497 human ensembl 69_37n +1 known missense c.2577 p.Q859H 1.000 superfamily_Homeodomain-like,smart_Homeodomain superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 282 0 0.00 29 119 80.41 - - - TXN2 0 genome.wustl.edu 37 22 36872855 36872855 + Silent SNP C C G TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 22 36872855 36872855 C G SNP TXN2 ENST00000216185 human ensembl 69_37n -1 known silent c.312 p.V104 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Thioredoxin pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Thioredoxin - no_errors TXN2 HGNC ENSG00000100348 270 0 0.00 117 92 43.81 - - - UBE2J1 0 genome.wustl.edu 37 6 90045151 90045151 + Splice_Site SNP C C G TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 6 90045151 90045151 C G SNP UBE2J1 ENST00000435041 human ensembl 69_37n -1 known splice_site c.429-1 e6-1 1.000 - - - no_errors UBE2J1 HGNC ENSG00000198833 59 0 0.00 122 35 22.29 - - - UNC5D 0 genome.wustl.edu 37 8 35608123 35608123 + Missense_Mutation SNP A A T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 8 35608123 35608123 A T SNP UNC5D ENST00000404895 human ensembl 69_37n +1 known missense c.1959 p.E653D 1.000 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5D HGNC ENSG00000156687 233 0 0.00 135 100 42.55 - - - USP36 0 genome.wustl.edu 37 17 76795831 76795831 + Silent SNP A A T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 17 76795831 76795831 A T SNP USP36 ENST00000312010 human ensembl 69_37n -1 known silent c.3042 p.P1014 0.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP36 HGNC ENSG00000055483 132 0 0.00 34 16 32.00 - - - VCPIP1 0 genome.wustl.edu 37 8 67547576 67547576 + Silent SNP T T C TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 8 67547576 67547576 T C SNP VCPIP1 ENST00000310421 human ensembl 69_37n -1 known silent c.2829 p.P943 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 162 0 0.00 126 73 36.14 - - - WBP1L 0 genome.wustl.edu 37 10 104557756 104557756 + Missense_Mutation SNP G G A TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 10 104557756 104557756 G A SNP WBP1L ENST00000448841 human ensembl 69_37n +1 known missense c.97 p.E33K 1.000 NULL pfam_Uncharacterised_WW-bd - no_errors WBP1L HGNC ENSG00000166272 145 0 0.00 198 71 26.30 - - - WBSCR17 0 genome.wustl.edu 37 7 71175821 71175821 + Missense_Mutation SNP T T G TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 7 71175821 71175821 T G SNP WBSCR17 ENST00000333538 human ensembl 69_37n +1 known missense c.1576 p.C526G 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 207 1 0.48 67 53 43.80 - - - XIRP1 0 genome.wustl.edu 37 3 39228482 39228482 + Missense_Mutation SNP T T G TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 3 39228482 39228482 T G SNP XIRP1 ENST00000340369 human ensembl 69_37n -1 known missense c.2455 p.K819Q 0.997 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 117 0 0.00 29 25 46.30 - - - ZCCHC6 0 genome.wustl.edu 37 9 88932177 88932177 + Silent SNP G G C TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 9 88932177 88932177 G C SNP ZCCHC6 ENST00000375963 human ensembl 69_37n -1 known silent c.3231 p.V1077 0.966 NULL pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ENSG00000083223 146 0 0.00 114 19 14.29 - - - ZNF487P 0 genome.wustl.edu 37 10 43977890 43977890 + Missense_Mutation SNP G G A TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 10 43977890 43977890 G A SNP ZNF487P ENST00000431662 human ensembl 69_37n +1 known missense c.805 p.D269N 0.001 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF487P HGNC ENSG00000243660 42 0 0.00 32 61 65.59 - - - ZNF542 0 genome.wustl.edu 37 19 56888646 56888646 + RNA SNP C C G TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 19 56888646 56888646 C G SNP ZNF542 ENST00000467807 human ensembl 69_37n +1 known rna NULL NULL 0.559 - - - no_errors ZNF542 HGNC ENSG00000240225 21 0 0.00 14 7 33.33 - - - ZNF716 0 genome.wustl.edu 37 7 57529139 57529139 + Nonsense_Mutation SNP C C A TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2d77acd-89db-4d2d-89d7-d1cc58cf576b 75042bcc-6363-44b2-97bd-c51d3789ce67 7 57529139 57529139 C A SNP ZNF716 ENST00000420713 human ensembl 69_37n +1 known nonsense c.972 p.Y324* 0.036 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF716 HGNC ENSG00000182111 238 0 0.00 183 131 41.72 - - -