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 ABCB5 0 genome.wustl.edu 37 7 20778650 20778650 + Missense_Mutation SNP C C T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 7 20778650 20778650 C T SNP ABCB5 ENST00000258738 human ensembl 69_37n +1 known missense c.1577 p.T526M 0.993 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 ABCB5 HGNC ENSG00000004846 74 0 0.00 89 47 34.56 - - - ACTL7B 0 genome.wustl.edu 37 9 111617531 111617531 + Missense_Mutation SNP C C G TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 9 111617531 111617531 C G SNP ACTL7B ENST00000374667 human ensembl 69_37n -1 known missense c.680 p.G227A 0.991 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL7B HGNC ENSG00000148156 15 0 0.00 17 7 29.17 - - - AP1AR 0 genome.wustl.edu 37 4 113189561 113189561 + Missense_Mutation SNP G G A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 4 113189561 113189561 G A SNP AP1AR ENST00000274000 human ensembl 69_37n +1 known missense c.905 p.R302Q 1.000 NULL NULL - no_errors AP1AR HGNC ENSG00000138660 37 0 0.00 61 20 24.69 - - - ARNTL 0 genome.wustl.edu 37 11 13381930 13381930 + Missense_Mutation SNP A A T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 11 13381930 13381930 A T SNP ARNTL ENST00000403290 human ensembl 69_37n +1 known missense c.418 p.T140S 0.999 superfamily_HLH_DNA-bd,prints_Nuc_translocat pfam_PAS_fold,pfam_PAS_fold_3,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_HLH_DNA-bd,tigrfam_PAS - no_errors ARNTL HGNC ENSG00000133794 119 0 0.00 187 38 16.81 - - - ASB5 0 genome.wustl.edu 37 4 177142658 177142658 + Missense_Mutation SNP C C A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 4 177142658 177142658 C A SNP ASB5 ENST00000296525 human ensembl 69_37n -1 known missense c.478 p.A160S 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB5 HGNC ENSG00000164122 38 0 0.00 70 30 30.00 - - - BCL11B 0 genome.wustl.edu 37 14 99697761 99697761 + Silent SNP G G A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 14 99697761 99697761 G A SNP BCL11B ENST00000357195 human ensembl 69_37n -1 known silent c.561 p.S187 0.968 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11B HGNC ENSG00000127152 20 0 0.00 20 16 44.44 - - - BMP2 0 genome.wustl.edu 37 20 6759436 6759436 + Missense_Mutation SNP G G C TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 20 6759436 6759436 G C SNP BMP2 ENST00000378827 human ensembl 69_37n +1 known missense c.891 p.K297N 1.000 pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP2 HGNC ENSG00000125845 60 0 0.00 108 24 18.18 - - - BRE 0 genome.wustl.edu 37 2 28117484 28117484 + Missense_Mutation SNP G G A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 2 28117484 28117484 G A SNP BRE ENST00000344773 human ensembl 69_37n +1 known missense c.61 p.V21M 0.998 pfam_Brain/reproduct-express_prot pfam_Brain/reproduct-express_prot - no_errors BRE HGNC ENSG00000158019 103 0 0.00 149 21 12.35 - - - BTLA 0 genome.wustl.edu 37 3 112185099 112185099 + Silent SNP A A C TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 3 112185099 112185099 A C SNP BTLA ENST00000334529 human ensembl 69_37n -1 known silent c.726 p.V242 0.439 NULL smart_Ig_sub,pfscan_Ig-like - no_errors BTLA HGNC ENSG00000186265 35 0 0.00 66 9 12.00 - - - C17orf97 0 genome.wustl.edu 37 17 262973 262973 + Silent SNP G G A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 17 262973 262973 G A SNP C17orf97 ENST00000360127 human ensembl 69_37n +1 known silent c.339 p.P113 0.000 NULL NULL - no_errors C17orf97 HGNC ENSG00000187624 78 0 0.00 102 30 22.39 - - - C1orf141 0 genome.wustl.edu 37 1 67581050 67581050 + Nonsense_Mutation SNP C C A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 1 67581050 67581050 C A SNP C1orf141 ENST00000371006 human ensembl 69_37n -1 known nonsense c.331 p.E111* 0.825 NULL NULL - no_errors C1orf141 HGNC ENSG00000203963 68 0 0.00 91 14 13.33 - - - C3orf77 0 genome.wustl.edu 37 3 44285298 44285298 + Missense_Mutation SNP C C T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 3 44285298 44285298 C T SNP C3orf77 ENST00000309765 human ensembl 69_37n +1 known missense c.1300 p.P434S 0.007 NULL NULL - no_errors C3orf77 HGNC ENSG00000173769 23 0 0.00 26 7 21.21 - - - C5orf42 0 genome.wustl.edu 37 5 37169272 37169272 + Missense_Mutation SNP T T G TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 5 37169272 37169272 T G SNP C5orf42 ENST00000425232 human ensembl 69_37n -1 known missense c.6854 p.N2285T 0.095 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 96 0 0.00 128 23 15.23 - - - CAMKV 0 genome.wustl.edu 37 3 49898960 49898960 + Missense_Mutation SNP G G A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 3 49898960 49898960 G A SNP CAMKV ENST00000477224 human ensembl 69_37n -1 known missense c.353 p.S118L 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CAMKV HGNC ENSG00000164076 42 0 0.00 28 18 39.13 - - - CCDC62 0 genome.wustl.edu 37 12 123262167 123262167 + Missense_Mutation SNP C C T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 12 123262167 123262167 C T SNP CCDC62 ENST00000253079 human ensembl 69_37n +1 known missense c.166 p.L56F 0.971 NULL superfamily_Prefoldin - no_errors CCDC62 HGNC ENSG00000130783 50 0 0.00 78 14 15.05 - - - CCR7 0 genome.wustl.edu 37 17 38721654 38721654 + Missense_Mutation SNP A A T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 17 38721654 38721654 A T SNP CCR7 ENST00000246657 human ensembl 69_37n -1 known missense c.8 p.L3Q 0.995 prints_Chemokine_CCR7 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Chemokine_CCR7,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CCR11,pfscan_GPCR_Rhodpsn_supfam - no_errors CCR7 HGNC ENSG00000126353 45 0 0.00 59 13 18.06 - - - CDK16 0 genome.wustl.edu 37 X 47088130 47088130 + Missense_Mutation SNP G G T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 X 47088130 47088130 G T SNP CDK16 ENST00000276052 human ensembl 69_37n +1 known missense c.1676 p.G559V 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 CDK16 HGNC ENSG00000102225 49 0 0.00 66 12 15.19 - - - CHML 0 genome.wustl.edu 37 1 241798027 241798027 + Nonsense_Mutation SNP C C A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 1 241798027 241798027 C A SNP CHML ENST00000366553 human ensembl 69_37n -1 known nonsense c.1042 p.E348* 1.000 pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHML HGNC ENSG00000203668 80 0 0.00 96 13 11.93 - - - CMYA5 0 genome.wustl.edu 37 5 79030169 79030169 + Missense_Mutation SNP T T G TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 5 79030169 79030169 T G SNP CMYA5 ENST00000446378 human ensembl 69_37n +1 known missense c.5581 p.L1861V 0.456 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 43 0 0.00 29 18 38.30 - - - CNKSR2 0 genome.wustl.edu 37 X 21450849 21450849 + Silent SNP C C T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 X 21450849 21450849 C T SNP CNKSR2 ENST00000379510 human ensembl 69_37n +1 known silent c.348 p.T116 0.987 pfam_CRIC_domain_Chordata pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR2 HGNC ENSG00000149970 66 0 0.00 61 33 35.11 - - - COL12A1 0 genome.wustl.edu 37 6 75866154 75866154 + Silent SNP G G A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 6 75866154 75866154 G A SNP COL12A1 ENST00000322507 human ensembl 69_37n -1 known silent c.3069 p.V1023 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,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 COL12A1 HGNC ENSG00000111799 178 0 0.00 219 127 36.60 - - - CPS1 0 genome.wustl.edu 37 2 211503908 211503908 + Missense_Mutation SNP C C A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 2 211503908 211503908 C A SNP CPS1 ENST00000430249 human ensembl 69_37n +1 known missense c.2882 p.T961K 1.000 pfam_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_lsu_oligo,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE_1,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,smart_MGS-like_dom,prints_CbamoylP_synth_lsu_CPSase_dom,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 51 0 0.00 74 41 35.65 - - - CTAGE1 0 genome.wustl.edu 37 18 19995860 19995860 + Missense_Mutation SNP G G T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 18 19995860 19995860 G T SNP CTAGE1 ENST00000391403 human ensembl 69_37n -1 known missense c.1915 p.L639I 0.383 NULL NULL - no_errors CTAGE1 HGNC ENSG00000212710 36 0 0.00 40 19 32.20 - - - DICER1 0 genome.wustl.edu 37 14 95582133 95582133 + Missense_Mutation SNP G G A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 14 95582133 95582133 G A SNP DICER1 ENST00000343455 human ensembl 69_37n -1 known missense c.1778 p.S593L 0.997 pfscan_Helicase_C pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 45 0 0.00 90 29 24.37 - - - DLL1 0 genome.wustl.edu 37 6 170592574 170592574 + Missense_Mutation SNP C C T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 6 170592574 170592574 C T SNP DLL1 ENST00000366756 human ensembl 69_37n -1 known missense c.1793 p.R598H 1.000 NULL pfam_EGF-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_DSL,pfscan_EG-like_dom - no_errors DLL1 HGNC ENSG00000198719 69 0 0.00 83 62 42.76 - - - DOCK2 0 genome.wustl.edu 37 5 169494675 169494675 + Silent SNP C C T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 5 169494675 169494675 C T SNP DOCK2 ENST00000256935 human ensembl 69_37n +1 known silent c.4629 p.F1543 0.595 pfam_DOCK,superfamily_Cyt_c_dom pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RR-like,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 78 0 0.00 120 31 20.53 - - - DRD2 0 genome.wustl.edu 37 11 113283314 113283314 + Missense_Mutation SNP C C G TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 11 113283314 113283314 C G SNP DRD2 ENST00000355319 human ensembl 69_37n -1 known missense c.1108 p.E370Q 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Dopa_D2_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD2 HGNC ENSG00000149295 67 0 0.00 126 33 20.75 - - - EDN3 0 genome.wustl.edu 37 20 57899430 57899430 + Silent SNP C C T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 20 57899430 57899430 C T SNP EDN3 ENST00000337938 human ensembl 69_37n +1 known silent c.633 p.H211 0.000 NULL pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D - no_errors EDN3 HGNC ENSG00000124205 34 0 0.00 44 15 25.42 - - - ENAM 0 genome.wustl.edu 37 4 71500234 71500234 + Missense_Mutation SNP G G T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 4 71500234 71500234 G T SNP ENAM ENST00000396073 human ensembl 69_37n +1 known missense c.420 p.K140N 0.841 NULL NULL - no_errors ENAM HGNC ENSG00000132464 69 0 0.00 111 51 31.48 - - - EPPK1 0 genome.wustl.edu 37 8 144940706 144940706 + Missense_Mutation SNP C C T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 8 144940706 144940706 C T SNP EPPK1 ENST00000525985 human ensembl 69_37n -1 known missense c.6716 p.R2239H 0.950 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 23 0 0.00 50 11 18.03 - - - F13B 0 genome.wustl.edu 37 1 197032127 197032127 + Missense_Mutation SNP A A C TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 1 197032127 197032127 A C SNP F13B ENST00000367412 human ensembl 69_37n -1 known missense c.125 p.F42C 1.000 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 F13B HGNC ENSG00000143278 52 0 0.00 62 15 19.48 - - - FCRL3 0 genome.wustl.edu 37 1 157650537 157650537 + Missense_Mutation SNP T T C TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 1 157650537 157650537 T C SNP FCRL3 ENST00000368186 human ensembl 69_37n -1 known missense c.1981 p.I661V 0.010 NULL pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL3 HGNC ENSG00000160856 115 0 0.00 149 33 18.13 - - - FCRL4 0 genome.wustl.edu 37 1 157557342 157557342 + Missense_Mutation SNP G G A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 1 157557342 157557342 G A SNP FCRL4 ENST00000271532 human ensembl 69_37n -1 known missense c.571 p.P191S 0.978 NULL pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL4 HGNC ENSG00000163518 54 0 0.00 56 10 15.15 - - - FKBP3 0 genome.wustl.edu 37 14 45599056 45599056 + Missense_Mutation SNP T T G TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 14 45599056 45599056 T G SNP FKBP3 ENST00000216330 human ensembl 69_37n -1 known missense c.259 p.N87H 0.999 NULL pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP3 HGNC ENSG00000100442 183 0 0.00 232 47 16.85 - - - FMO2 0 genome.wustl.edu 37 1 171162534 171162534 + Nonsense_Mutation SNP G G T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 1 171162534 171162534 G T SNP FMO2 ENST00000209929 human ensembl 69_37n +1 known nonsense c.193 p.E65* 1.000 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5 - no_errors FMO2 HGNC ENSG00000094963 61 0 0.00 73 10 12.05 - - - GNG5P2 0 genome.wustl.edu 37 X 109590108 109590108 + Silent SNP C C T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 X 109590108 109590108 C T SNP GNG5P2 ENST00000372054 human ensembl 69_37n -1 known silent c.30 p.T10 1.000 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,prints_Gprotein-gamma,pfscan_G-protein_gamma-like_dom pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,prints_Gprotein-gamma,pfscan_G-protein_gamma-like_dom - no_errors GNG5P2 HGNC ENSG00000133136 29 0 0.00 21 8 27.59 - - - IBSP 0 genome.wustl.edu 37 4 88723554 88723554 + Missense_Mutation SNP C C T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 4 88723554 88723554 C T SNP IBSP ENST00000226284 human ensembl 69_37n +1 known missense c.41 p.A14V 1.000 NULL pfam_BSP_II - no_errors IBSP HGNC ENSG00000029559 65 0 0.00 76 19 20.00 - - - IGLV2-33 0 genome.wustl.edu 37 22 22930906 22930906 + Missense_Mutation SNP G G T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 22 22930906 22930906 G T SNP IGLV2-33 ENST00000390302 human ensembl 69_37n +1 known missense c.101 p.G34V 0.724 pfam_Ig_V-set,pfam_Immunoglobulin,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon:bad_bp_length_for_coding_region IGLV2-33 HGNC ENSG00000211656 62 0 0.00 60 37 38.14 - - - IGLV3-25 0 genome.wustl.edu 37 22 23029718 23029718 + Missense_Mutation SNP A A T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 22 23029718 23029718 A T SNP IGLV3-25 ENST00000390305 human ensembl 69_37n +1 known missense c.320 p.Q107L 0.008 pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon:bad_bp_length_for_coding_region IGLV3-25 HGNC ENSG00000211659 40 0 0.00 44 8 15.38 - - - INPP4A 0 genome.wustl.edu 37 2 99175925 99175925 + Splice_Site SNP G G C TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 2 99175925 99175925 G C SNP INPP4A ENST00000074304 human ensembl 69_37n +1 known splice_site c.1838-1 e16-1 1.000 - - - no_errors INPP4A HGNC ENSG00000040933 136 0 0.00 196 80 28.99 - - - KLHL13 0 genome.wustl.edu 37 X 117053569 117053569 + Missense_Mutation SNP T T C TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 X 117053569 117053569 T C SNP KLHL13 ENST00000539496 human ensembl 69_37n -1 known missense c.494 p.D165G 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL13 HGNC ENSG00000003096 50 0 0.00 44 25 36.23 - - - KLK11 0 genome.wustl.edu 37 19 51526351 51526351 + Nonsense_Mutation SNP G G T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 19 51526351 51526351 G T SNP KLK11 ENST00000319756 human ensembl 69_37n -1 known nonsense c.693 p.C231* 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK11 HGNC ENSG00000167757 63 0 0.00 68 29 29.90 - - - LOX 0 genome.wustl.edu 37 5 121411136 121411136 + Nonsense_Mutation SNP G G A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 5 121411136 121411136 G A SNP LOX ENST00000231004 human ensembl 69_37n -1 known nonsense c.841 p.R281* 1.000 pfam_Lysyl_oxidase,prints_Lysyl_oxidase pfam_Lysyl_oxidase,prints_Lysyl_oxidase - no_errors LOX HGNC ENSG00000113083 119 0 0.00 135 59 30.26 - - - LRFN5 0 genome.wustl.edu 37 14 42356316 42356316 + Missense_Mutation SNP C C A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 14 42356316 42356316 C A SNP LRFN5 ENST00000298119 human ensembl 69_37n +1 known missense c.488 p.P163H 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRFN5 HGNC ENSG00000165379 54 0 0.00 60 16 21.05 - - - LSM11 0 genome.wustl.edu 37 5 157182067 157182067 + Missense_Mutation SNP C C G TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 5 157182067 157182067 C G SNP LSM11 ENST00000286307 human ensembl 69_37n +1 known missense c.878 p.S293C 1.000 superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors LSM11 HGNC ENSG00000155858 41 0 0.00 38 7 15.56 - - - MADD 0 genome.wustl.edu 37 11 47345258 47345258 + Missense_Mutation SNP G G A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 11 47345258 47345258 G A SNP MADD ENST00000311027 human ensembl 69_37n +1 known missense c.4414 p.G1472R 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 66 0 0.00 109 18 14.17 - - - MAP1S 0 genome.wustl.edu 37 19 17836889 17836889 + Silent SNP C C T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 19 17836889 17836889 C T SNP MAP1S ENST00000324096 human ensembl 69_37n +1 known silent c.696 p.S232 0.002 NULL NULL - no_errors MAP1S HGNC ENSG00000130479 27 0 0.00 18 9 33.33 - - - MARK1 0 genome.wustl.edu 37 1 220824018 220824018 + Silent SNP G G A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 1 220824018 220824018 G A SNP MARK1 ENST00000366917 human ensembl 69_37n +1 known silent c.1527 p.R509 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK1 HGNC ENSG00000116141 60 0 0.00 80 13 13.83 - - - MATN2 0 genome.wustl.edu 37 8 99028810 99028810 + Missense_Mutation SNP C C T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 8 99028810 99028810 C T SNP MATN2 ENST00000254898 human ensembl 69_37n +1 known missense c.1616 p.S539L 0.001 smart_EGF-like_Ca-bd,smart_EGF-like pfam_VWF_A,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A - no_errors MATN2 HGNC ENSG00000132561 73 0 0.00 189 24 11.27 - - - MGA 0 genome.wustl.edu 37 15 42041686 42041686 + Nonsense_Mutation SNP C C T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 15 42041686 42041686 C T SNP MGA ENST00000219905 human ensembl 69_37n +1 known nonsense c.5881 p.Q1961* 1.000 NULL pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box - no_errors MGA HGNC ENSG00000174197 15 0 0.00 9 5 35.71 - - - MIR140 0 genome.wustl.edu 37 16 69967002 69967002 + RNA SNP C C T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 16 69967002 69967002 C T SNP MIR140 ENST00000385282 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors MIR140 HGNC ENSG00000208017 143 0 0.00 131 105 44.49 - - - MND1 0 genome.wustl.edu 37 4 154315444 154315444 + Missense_Mutation SNP C C G TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 4 154315444 154315444 C G SNP MND1 ENST00000240488 human ensembl 69_37n +1 known missense c.307 p.L103V 0.686 pfam_Mnd1,pfam_Pencillinase_R,pirsf_Mnd1 pfam_Mnd1,pfam_Pencillinase_R,pirsf_Mnd1 - no_errors MND1 HGNC ENSG00000121211 79 0 0.00 141 58 29.15 - - - MYOZ2 0 genome.wustl.edu 37 4 120072076 120072076 + Silent SNP C C A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 4 120072076 120072076 C A SNP MYOZ2 ENST00000307128 human ensembl 69_37n +1 known silent c.126 p.I42 1.000 pfam_Calsarcin-bd pfam_Calsarcin-bd - no_errors MYOZ2 HGNC ENSG00000172399 86 0 0.00 140 23 14.11 - - - N4BP2 0 genome.wustl.edu 37 4 40121887 40121887 + Missense_Mutation SNP C C A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 4 40121887 40121887 C A SNP N4BP2 ENST00000261435 human ensembl 69_37n +1 known missense c.2156 p.S719Y 0.000 NULL pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C - no_errors N4BP2 HGNC ENSG00000078177 32 0 0.00 22 7 24.14 - - - NAV3 0 genome.wustl.edu 37 12 78443778 78443778 + Missense_Mutation SNP G G T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 12 78443778 78443778 G T SNP NAV3 ENST00000397909 human ensembl 69_37n +1 known missense c.2029 p.D677Y 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 53 0 0.00 72 18 20.00 - - - NCOA6 0 genome.wustl.edu 37 20 33364231 33364231 + Nonsense_Mutation SNP G G A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 20 33364231 33364231 G A SNP NCOA6 ENST00000359003 human ensembl 69_37n -1 known nonsense c.256 p.Q86* 1.000 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 72 0 0.00 92 45 32.85 - - - NEDD9 0 genome.wustl.edu 37 6 11191022 11191022 + Missense_Mutation SNP G G C TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 6 11191022 11191022 G C SNP NEDD9 ENST00000379446 human ensembl 69_37n -1 known missense c.1080 p.D360E 0.978 NULL pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NEDD9 HGNC ENSG00000111859 24 0 0.00 11 12 52.17 - - - NEK3 0 genome.wustl.edu 37 13 52707287 52707287 + Silent SNP G G A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 13 52707287 52707287 G A SNP NEK3 ENST00000452082 human ensembl 69_37n -1 known silent c.1524 p.C508 0.000 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK3 HGNC ENSG00000136098 34 0 0.00 45 12 20.69 - - - NFATC4 0 genome.wustl.edu 37 14 24845639 24845639 + Nonsense_Mutation SNP C C A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 14 24845639 24845639 C A SNP NFATC4 ENST00000413692 human ensembl 69_37n +1 known nonsense c.2385 p.C795* 0.491 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 29 0 0.00 39 10 20.41 - - - NPC1 0 genome.wustl.edu 37 18 21140315 21140315 + Missense_Mutation SNP G G A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 18 21140315 21140315 G A SNP NPC1 ENST00000269228 human ensembl 69_37n -1 known missense c.761 p.P254L 1.000 tigrfam_NP_C_type pfam_Patched,pfam_MMPL-typ,pfscan_SSD,tigrfam_NP_C_type - no_errors NPC1 HGNC ENSG00000141458 35 0 0.00 30 23 43.40 - - - NUP43 0 genome.wustl.edu 37 6 150067641 150067641 + Silent SNP G G A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 6 150067641 150067641 G A SNP NUP43 ENST00000367403 human ensembl 69_37n -1 known silent c.174 p.A58 0.000 NULL superfamily_WD40_repeat_dom - no_errors NUP43 HGNC ENSG00000120253 47 0 0.00 26 23 46.94 - - - OR2A12 0 genome.wustl.edu 37 7 143792630 143792630 + Missense_Mutation SNP G G A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 7 143792630 143792630 G A SNP OR2A12 ENST00000408949 human ensembl 69_37n +1 known missense c.430 p.A144T 0.001 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2A12 HGNC ENSG00000221858 115 0 0.00 179 27 13.11 - - - OR51A2 0 genome.wustl.edu 37 11 4976079 4976079 + Missense_Mutation SNP T T G TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 11 4976079 4976079 T G SNP OR51A2 ENST00000380371 human ensembl 69_37n -1 known missense c.865 p.K289Q 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR51A2 HGNC ENSG00000205496 29 0 0.00 67 15 18.29 - - - OR5W2 0 genome.wustl.edu 37 11 55682047 55682047 + Missense_Mutation SNP T T A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 11 55682047 55682047 T A SNP OR5W2 ENST00000344514 human ensembl 69_37n -1 known missense c.12 p.E4D 0.009 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5W2 HGNC ENSG00000187612 10 0 0.00 25 5 16.67 - - - P2RX7 0 genome.wustl.edu 37 12 121603182 121603182 + Missense_Mutation SNP G G A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 12 121603182 121603182 G A SNP P2RX7 ENST00000546057 human ensembl 69_37n +1 known missense c.556 p.E186K 0.998 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X7_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX7 HGNC ENSG00000089041 53 0 0.00 92 19 17.12 - - - PAG1 0 genome.wustl.edu 37 8 81892669 81892669 + Splice_Site DEL C C - TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 8 81892669 81892669 C - DEL PAG1 ENST00000220597 human ensembl 69_37n -1 known splice_site_del c.936+1 e5+1 1.000 - - - no_errors PAG1 HGNC ENSG00000076641 54 0 0.00 69 37 34.58 - - - PAX7 0 genome.wustl.edu 37 1 19018346 19018346 + Missense_Mutation SNP C C A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 1 19018346 19018346 C A SNP PAX7 ENST00000375375 human ensembl 69_37n +1 known missense c.685 p.L229M 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Paired_dom,pfam_Homeodomain,pfam_Pax7,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,prints_Paired_dom,pfscan_Homeodomain,pfscan_Paired_dom - no_errors PAX7 HGNC ENSG00000009709 13 0 0.00 12 16 57.14 - - - PCDHGB8P 0 genome.wustl.edu 37 5 140807615 140807615 + RNA SNP G G C TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 5 140807615 140807615 G C SNP PCDHGB8P ENST00000502926 human ensembl 69_37n +1 known rna NULL NULL 0.997 - - - no_errors PCDHGB8P HGNC ENSG00000248449 8 0 0.00 17 6 26.09 - - - PGBD2 0 genome.wustl.edu 37 1 249212333 249212333 + Missense_Mutation SNP G G A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 1 249212333 249212333 G A SNP PGBD2 ENST00000329291 human ensembl 69_37n +1 known missense c.1550 p.R517Q 0.988 NULL NULL - no_errors PGBD2 HGNC ENSG00000185220 44 0 0.00 32 25 43.86 - - - PIAS2 0 genome.wustl.edu 37 18 44416348 44416349 + Frame_Shift_Ins INS - - T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 18 44416348 44416349 - T INS PIAS2 ENST00000585916 human ensembl 69_37n -1 known frame_shift_ins c.1174_1173 p.A391fs 1.000:0.998 pfscan_Znf_MIZ pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd - no_errors PIAS2 HGNC ENSG00000078043 82 0 0.00 51 27 34.62 - - - PIK3CA 0 genome.wustl.edu 37 3 178928086 178928087 + Frame_Shift_Ins INS - - G TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 3 178928086 178928087 - G INS PIK3CA ENST00000263967 human ensembl 69_37n +1 known frame_shift_ins c.1364_1365 p.L456fs 1.000:1.000 pfam_PI3K_C2_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 109 0 0.00 68 8 10.53 - - - PIP5K1B 0 genome.wustl.edu 37 9 71532631 71532631 + Silent SNP T T C TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 9 71532631 71532631 T C SNP PIP5K1B ENST00000478500 human ensembl 69_37n +1 known silent c.1059 p.G353 0.518 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1B HGNC ENSG00000107242 34 0 0.00 65 9 12.16 - - - PLEKHA6 0 genome.wustl.edu 37 1 204192633 204192633 + Missense_Mutation SNP G G A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 1 204192633 204192633 G A SNP PLEKHA6 ENST00000272203 human ensembl 69_37n -1 known missense c.3112 p.R1038W 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 38 0 0.00 28 17 36.96 - - - PLEKHH1 0 genome.wustl.edu 37 14 68042162 68042162 + Missense_Mutation SNP C C G TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 14 68042162 68042162 C G SNP PLEKHH1 ENST00000329153 human ensembl 69_37n +1 known missense c.2142 p.F714L 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH1 HGNC ENSG00000054690 52 0 0.00 45 35 43.75 - - - PLEKHH2 0 genome.wustl.edu 37 2 43937469 43937469 + Silent SNP G G A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 2 43937469 43937469 G A SNP PLEKHH2 ENST00000282406 human ensembl 69_37n +1 known silent c.2214 p.P738 0.842 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH2 HGNC ENSG00000152527 123 1 0.81 147 61 29.33 - - - POLE 0 genome.wustl.edu 37 12 133250250 133250250 + Missense_Mutation SNP G G C TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 12 133250250 133250250 G C SNP POLE ENST00000455752 human ensembl 69_37n -1 known missense c.1303 p.L435V 1.000 pfam_DNA-dir_DNA_pol_B_exonuc,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 31 0 0.00 29 8 21.62 - - - POLR1A 0 genome.wustl.edu 37 2 86276027 86276027 + Missense_Mutation SNP A A C TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 2 86276027 86276027 A C SNP POLR1A ENST00000263857 human ensembl 69_37n -1 known missense c.2614 p.Y872D 1.000 pfam_RNA_pol_Rpb1_4 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 90 0 0.00 121 25 17.12 - - - POM121L2 0 genome.wustl.edu 37 6 27278901 27278901 + Missense_Mutation SNP G G A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 6 27278901 27278901 G A SNP POM121L2 ENST00000444565 human ensembl 69_37n -1 known missense c.1049 p.T350I 0.002 NULL NULL - no_errors POM121L2 HGNC ENSG00000158553 80 0 0.00 117 18 13.33 - - - PRAMEF11 0 genome.wustl.edu 37 1 12885009 12885009 + Missense_Mutation SNP A A C TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 1 12885009 12885009 A C SNP PRAMEF11 ENST00000535591 human ensembl 69_37n -1 known missense c.1102 p.L368V 0.000 NULL NULL - no_errors PRAMEF11 HGNC ENSG00000204513 114 0 0.00 243 32 11.64 - - - PRAMEF12 0 genome.wustl.edu 37 1 12835814 12835814 + Missense_Mutation SNP C C T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 1 12835814 12835814 C T SNP PRAMEF12 ENST00000357726 human ensembl 69_37n +1 known missense c.416 p.P139L 0.000 NULL NULL - no_errors PRAMEF12 HGNC ENSG00000116726 62 0 0.00 59 31 34.44 - - - PRPF40A 0 genome.wustl.edu 37 2 153525674 153525674 + Nonsense_Mutation SNP G G A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 2 153525674 153525674 G A SNP PRPF40A ENST00000410080 human ensembl 69_37n -1 known nonsense c.1741 p.R581* 1.000 superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP,prints_Antifreeze_1 - no_errors PRPF40A HGNC ENSG00000196504 145 0 0.00 212 29 11.98 - - - RARA 0 genome.wustl.edu 37 17 38508726 38508726 + Silent SNP C C T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 17 38508726 38508726 C T SNP RARA ENST00000254066 human ensembl 69_37n +1 known silent c.774 p.I258 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARA HGNC ENSG00000131759 38 0 0.00 37 12 24.49 - - - RGS7 0 genome.wustl.edu 37 1 240969623 240969623 + Missense_Mutation SNP G G T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 1 240969623 240969623 G T SNP RGS7 ENST00000407727 human ensembl 69_37n -1 known missense c.1086 p.F362L 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS7 HGNC ENSG00000182901 55 0 0.00 55 15 21.43 - - - ROS1 0 genome.wustl.edu 37 6 117658501 117658501 + Nonsense_Mutation SNP C C T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 6 117658501 117658501 C T SNP ROS1 ENST00000368508 human ensembl 69_37n -1 known nonsense c.5082 p.W1694* 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 48 0 0.00 75 28 27.18 - - - SBNO1 0 genome.wustl.edu 37 12 123815832 123815832 + Missense_Mutation SNP T T G TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 12 123815832 123815832 T G SNP SBNO1 ENST00000420886 human ensembl 69_37n -1 known missense c.1000 p.I334L 1.000 pfam_Helicase/UvrB_dom pfam_Helicase/UvrB_dom,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 94 0 0.00 153 20 11.56 - - - SCN3A 0 genome.wustl.edu 37 2 165969454 165969454 + Missense_Mutation SNP A A G TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 2 165969454 165969454 A G SNP SCN3A ENST00000283254 human ensembl 69_37n -1 known missense c.3784 p.Y1262H 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN3A HGNC ENSG00000153253 91 0 0.00 149 34 18.58 - - - SDR16C5 0 genome.wustl.edu 37 8 57228667 57228667 + Silent SNP T T G TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 8 57228667 57228667 T G SNP SDR16C5 ENST00000303749 human ensembl 69_37n -1 known silent c.240 p.T80 0.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors SDR16C5 HGNC ENSG00000170786 40 0 0.00 60 17 21.79 - - - SH3PXD2B 0 genome.wustl.edu 37 5 171766090 171766090 + Silent SNP G G C TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 5 171766090 171766090 G C SNP SH3PXD2B ENST00000311601 human ensembl 69_37n -1 known silent c.2019 p.A673 0.994 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2B HGNC ENSG00000174705 50 0 0.00 70 24 25.53 - - - SHROOM4 0 genome.wustl.edu 37 X 50350572 50350572 + Silent SNP G G A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 X 50350572 50350572 G A SNP SHROOM4 ENST00000289292 human ensembl 69_37n -1 known silent c.3570 p.H1190 0.002 NULL pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 59 0 0.00 87 17 16.19 - - - SIPA1L1 0 genome.wustl.edu 37 14 72085583 72085583 + Silent SNP A A C TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 14 72085583 72085583 A C SNP SIPA1L1 ENST00000555818 human ensembl 69_37n +1 known silent c.1608 p.R536 0.907 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L1 HGNC ENSG00000197555 59 0 0.00 64 8 11.11 - - - SLC27A5 0 genome.wustl.edu 37 19 59009984 59009984 + Silent SNP G G T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 19 59009984 59009984 G T SNP SLC27A5 ENST00000263093 human ensembl 69_37n -1 known silent c.1971 p.I657 0.004 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A5 HGNC ENSG00000083807 64 0 0.00 73 26 26.26 - - - SLITRK2 0 genome.wustl.edu 37 X 144905707 144905707 + Silent SNP C C T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 X 144905707 144905707 C T SNP SLITRK2 ENST00000370490 human ensembl 69_37n +1 known silent c.1764 p.T588 0.050 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC ENSG00000185985 20 0 0.00 34 9 20.93 - - - SUZ12 0 genome.wustl.edu 37 17 30321730 30321730 + Missense_Mutation SNP C C G TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 17 30321730 30321730 C G SNP SUZ12 ENST00000322652 human ensembl 69_37n +1 known missense c.1585 p.L529V 1.000 NULL pfam_Polycomb_protein_VEFS-Box - no_errors SUZ12 HGNC ENSG00000178691 39 0 0.00 39 32 45.07 - - - SYTL1 0 genome.wustl.edu 37 1 27680340 27680340 + Silent SNP G G A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 1 27680340 27680340 G A SNP SYTL1 ENST00000543823 human ensembl 69_37n +1 known silent c.1686 p.T562 0.094 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain - no_errors SYTL1 HGNC ENSG00000142765 44 0 0.00 24 13 34.21 - - - TEX15 0 genome.wustl.edu 37 8 30705357 30705357 + Nonsense_Mutation SNP C C A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 8 30705357 30705357 C A SNP TEX15 ENST00000256246 human ensembl 69_37n -1 known nonsense c.1177 p.E393* 0.177 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 146 1 0.68 185 29 13.49 - - - TFAP2D 0 genome.wustl.edu 37 6 50740543 50740543 + Missense_Mutation SNP C C T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 6 50740543 50740543 C T SNP TFAP2D ENST00000008391 human ensembl 69_37n +1 known missense c.1325 p.A442V 0.997 NULL pfam_TF_AP2_C,prints_TF_AP2_C - no_errors TFAP2D HGNC ENSG00000008197 31 0 0.00 50 7 11.86 - - - TMEM131 0 genome.wustl.edu 37 2 98412831 98412831 + Missense_Mutation SNP C C A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 2 98412831 98412831 C A SNP TMEM131 ENST00000186436 human ensembl 69_37n -1 known missense c.3050 p.R1017I 1.000 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 76 0 0.00 193 32 14.22 - - - TMEM132D 0 genome.wustl.edu 37 12 130184703 130184703 + Missense_Mutation SNP G G A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 12 130184703 130184703 G A SNP TMEM132D ENST00000422113 human ensembl 69_37n -1 known missense c.620 p.T207M 0.072 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 21 0 0.00 7 8 53.33 - - - TP53 0 genome.wustl.edu 37 17 7577073 7577073 + Missense_Mutation SNP G G A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 17 7577073 7577073 G A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.865 p.L289F 0.983 NULL 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 72 0 0.00 97 21 17.80 - - - TRIO 0 genome.wustl.edu 37 5 14363873 14363873 + Silent SNP G G A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 5 14363873 14363873 G A SNP TRIO ENST00000344204 human ensembl 69_37n +1 known silent c.2424 p.E808 1.000 NULL pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 47 0 0.00 73 25 25.51 - - - TRPA1 0 genome.wustl.edu 37 8 72967727 72967727 + Missense_Mutation SNP C C A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 8 72967727 72967727 C A SNP TRPA1 ENST00000262209 human ensembl 69_37n -1 known missense c.1473 p.K491N 0.917 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 56 0 0.00 111 22 16.54 - - - TSHZ1 0 genome.wustl.edu 37 18 73000318 73000318 + Missense_Mutation SNP A A G TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 18 73000318 73000318 A G SNP TSHZ1 ENST00000580243 human ensembl 69_37n +1 known missense c.2956 p.I986V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ENSG00000179981 76 0 0.00 44 40 47.62 - - - TTN 0 genome.wustl.edu 37 2 179574368 179574368 + Missense_Mutation SNP C C T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 2 179574368 179574368 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.24946 p.D8316N 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 110 0 0.00 203 36 15.06 - - - TXNL1 0 genome.wustl.edu 37 18 54281805 54281805 + Missense_Mutation SNP T T G TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 18 54281805 54281805 T G SNP TXNL1 ENST00000217515 human ensembl 69_37n -1 known missense c.585 p.K195N 1.000 pfam_PITH_dom,superfamily_Galactose-bd-like pfam_PITH_dom,pfam_Thioredoxin_domain,superfamily_Galactose-bd-like,superfamily_Thioredoxin-like_fold - no_errors TXNL1 HGNC ENSG00000091164 84 0 0.00 112 14 11.11 - - - UBE2T 0 genome.wustl.edu 37 1 202304779 202304779 + Missense_Mutation SNP C C T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 1 202304779 202304779 C T SNP UBE2T ENST00000367274 human ensembl 69_37n -1 known missense c.104 p.R35Q 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2T HGNC ENSG00000077152 68 0 0.00 93 18 16.22 - - - WDR1 0 genome.wustl.edu 37 4 10079036 10079036 + Missense_Mutation SNP C C G TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 4 10079036 10079036 C G SNP WDR1 ENST00000382452 human ensembl 69_37n -1 known missense c.1606 p.V536L 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR1 HGNC ENSG00000071127 62 0 0.00 67 45 40.18 - - - WDR66 0 genome.wustl.edu 37 12 122441598 122441598 + Silent SNP C C T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 12 122441598 122441598 C T SNP WDR66 ENST00000288912 human ensembl 69_37n +1 known silent c.3378 p.I1126 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 110 0 0.00 281 39 12.19 - - - WDR69 0 genome.wustl.edu 37 2 228786260 228786260 + Missense_Mutation SNP G G A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 2 228786260 228786260 G A SNP WDR69 ENST00000309931 human ensembl 69_37n +1 known missense c.1196 p.G399D 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR69 HGNC ENSG00000123977 38 0 0.00 56 8 12.50 - - - ZC3H14 0 genome.wustl.edu 37 14 89038412 89038412 + Missense_Mutation SNP G G C TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 14 89038412 89038412 G C SNP ZC3H14 ENST00000251038 human ensembl 69_37n +1 known missense c.274 p.D92H 1.000 NULL smart_Znf_CCCH - no_errors ZC3H14 HGNC ENSG00000100722 70 0 0.00 61 17 21.79 - - - ZNF534 0 genome.wustl.edu 37 19 52941953 52941953 + Nonsense_Mutation SNP G G T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 19 52941953 52941953 G T SNP ZNF534 ENST00000332323 human ensembl 69_37n +1 known nonsense c.1279 p.E427* 0.052 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 ZNF534 HGNC ENSG00000198633 49 0 0.00 86 13 13.13 - - - ZNF546 0 genome.wustl.edu 37 19 40519819 40519819 + Missense_Mutation SNP G G T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 19 40519819 40519819 G T SNP ZNF546 ENST00000347077 human ensembl 69_37n +1 known missense c.642 p.E214D 1.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF546 HGNC ENSG00000187187 39 0 0.00 49 20 28.99 - - - ZNF99 0 genome.wustl.edu 37 19 22941531 22941531 + Nonsense_Mutation SNP G G A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 19 22941531 22941531 G A SNP ZNF99 ENST00000397104 human ensembl 69_37n -1 known nonsense c.907 p.Q303* 0.860 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 ZNF99 HGNC ENSG00000213973 104 0 0.00 120 25 17.12 - - - ZSCAN12 0 genome.wustl.edu 37 6 28365909 28365909 + Missense_Mutation SNP C C T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0b15c6f7-8e3e-48ad-a4a2-97d2ada56c44 56cc7ef4-ecf0-41d0-a692-88b352939918 6 28365909 28365909 C T SNP ZSCAN12 ENST00000361028 human ensembl 69_37n -1 known missense c.274 p.E92K 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN12 HGNC ENSG00000158691 94 0 0.00 138 29 17.37 - - -