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 A2ML1 0 genome.wustl.edu 37 12 9004584 9004584 + Missense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 9004584 9004584 C A SNP A2ML1 ENST00000299698 human ensembl 69_37n +1 known missense c.2439 p.F813L 1.000 pfam_Macroglobln_a2,pfam_SV_autoAg pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors A2ML1 HGNC ENSG00000166535 36 0 0.00 32 11 25.00 - - - A2ML1 0 genome.wustl.edu 37 12 9004849 9004849 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 9004849 9004849 C T SNP A2ML1 ENST00000299698 human ensembl 69_37n +1 known missense c.2507 p.S836L 0.023 pfam_SV_autoAg pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors A2ML1 HGNC ENSG00000166535 35 0 0.00 49 13 20.97 - - - A2ML1 0 genome.wustl.edu 37 12 9006756 9006756 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 9006756 9006756 C G SNP A2ML1 ENST00000299698 human ensembl 69_37n +1 known missense c.2623 p.L875V 0.924 pfam_SV_autoAg pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors A2ML1 HGNC ENSG00000166535 27 0 0.00 13 11 45.83 - - - AADACL4 0 genome.wustl.edu 37 1 12726700 12726700 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 12726700 12726700 C T SNP AADACL4 ENST00000376221 human ensembl 69_37n +1 known missense c.1178 p.S393F 0.001 pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase - no_errors AADACL4 HGNC ENSG00000204518 10 0 0.00 13 4 23.53 - - - AAK1 0 genome.wustl.edu 37 2 69746260 69746260 + Silent SNP A A G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 69746260 69746260 A G SNP AAK1 ENST00000409085 human ensembl 69_37n -1 known silent c.1323 p.T441 0.134 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 AAK1 HGNC ENSG00000115977 67 0 0.00 155 25 13.89 - - - AARS 0 genome.wustl.edu 37 16 70298986 70298986 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 16 70298986 70298986 C G SNP AARS ENST00000261772 human ensembl 69_37n -1 known missense c.1367 p.G456A 1.000 pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-synth_IIc_anticod-bd,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-synth_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-synth_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-synth_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-synth_IIc - no_errors AARS HGNC ENSG00000090861 44 0 0.00 44 19 30.16 - - - ABCB6 0 genome.wustl.edu 37 2 220075710 220075710 + Nonsense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 220075710 220075710 C T SNP ABCB6 ENST00000443805 human ensembl 69_37n -1 known nonsense c.51 p.W17* 1.000 NULL NULL - no_start_codon:no_stop_codon:bad_bp_length_for_coding_region ABCB6 HGNC ENSG00000115657 35 0 0.00 32 20 38.46 - - - ABCC10 0 genome.wustl.edu 37 6 43417205 43417205 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 43417205 43417205 G C SNP ABCC10 ENST00000372530 human ensembl 69_37n +1 known missense c.4249 p.D1417H 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC10 HGNC ENSG00000124574 17 0 0.00 19 6 24.00 - - - ABCC12 0 genome.wustl.edu 37 16 48145388 48145388 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 16 48145388 48145388 C G SNP ABCC12 ENST00000311303 human ensembl 69_37n -1 known missense c.2240 p.G747A 0.860 superfamily_ABC_transptrTM_dom_typ1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC12 HGNC ENSG00000140798 83 0 0.00 81 34 29.31 - - - ABLIM3 0 genome.wustl.edu 37 5 148630048 148630048 + Nonsense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 148630048 148630048 C T SNP ABLIM3 ENST00000309868 human ensembl 69_37n +1 known nonsense c.1768 p.R590* 1.000 NULL pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM3 HGNC ENSG00000173210 64 0 0.00 74 22 22.92 - - - ACACA 0 genome.wustl.edu 37 17 35609904 35609904 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 35609904 35609904 C T SNP ACACA ENST00000353139 human ensembl 69_37n -1 known missense c.1885 p.E629K 0.978 pfam_Biotin_COase_C,superfamily_Rudment_hybrid_motif,smart_Biotin_COase_C,pfscan_Biotin_carboxylation_dom pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 78 0 0.00 98 19 16.24 - - - ACADSB 0 genome.wustl.edu 37 10 124800072 124800072 + Missense_Mutation SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 10 124800072 124800072 G T SNP ACADSB ENST00000358776 human ensembl 69_37n +1 known missense c.394 p.D132Y 1.000 pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors ACADSB HGNC ENSG00000196177 47 0 0.00 31 17 35.42 - - - ACSL3 0 genome.wustl.edu 37 2 223782858 223782861 + Frame_Shift_Del DEL ACAA ACAA - TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 ACAA ACAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 223782858 223782861 ACAA - DEL ACSL3 ENST00000357430 human ensembl 69_37n +1 known frame_shift_del c.651_654 p.T219fs 0.998:1.000:1.000:0.989 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL3 HGNC ENSG00000123983 52 0 0.00 75 17 18.09 - - - ADAMTS1 0 genome.wustl.edu 37 21 28212280 28212280 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 21 28212280 28212280 G C SNP ADAMTS1 ENST00000284984 human ensembl 69_37n -1 known missense c.1766 p.P589R 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS1 HGNC ENSG00000154734 51 0 0.00 33 37 52.86 - - - AFF2 0 genome.wustl.edu 37 X 148055004 148055004 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 148055004 148055004 G C SNP AFF2 ENST00000370460 human ensembl 69_37n +1 known missense c.3271 p.E1091Q 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 67 0 0.00 88 34 27.87 - - - AFF3 0 genome.wustl.edu 37 2 100623122 100623122 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 100623122 100623122 G C SNP AFF3 ENST00000356421 human ensembl 69_37n -1 known missense c.920 p.S307C 0.983 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 23 0 0.00 25 23 46.94 - - - AFM 0 genome.wustl.edu 37 4 74365813 74365813 + Missense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 4 74365813 74365813 C A SNP AFM ENST00000226355 human ensembl 69_37n +1 known missense c.1515 p.F505L 0.926 pirsf_Serum_albumin_subgr,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N pirsf_Serum_albumin_subgr,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_Serum_albumin,prints_Alpha-fetoprotein - no_errors AFM HGNC ENSG00000079557 61 0 0.00 90 38 29.69 - - - AGAP1 0 genome.wustl.edu 37 2 236839505 236839505 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 236839505 236839505 C T SNP AGAP1 ENST00000304032 human ensembl 69_37n +1 known missense c.1421 p.S474L 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 25 0 0.00 17 13 43.33 - - - AHDC1 0 genome.wustl.edu 37 1 27878020 27878020 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 27878020 27878020 C G SNP AHDC1 ENST00000247087 human ensembl 69_37n -1 known missense c.607 p.E203Q 1.000 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 29 0 0.00 17 9 34.62 - - - AHR 0 genome.wustl.edu 37 7 17378965 17378965 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 17378965 17378965 G A SNP AHR ENST00000242057 human ensembl 69_37n +1 known missense c.1516 p.D506N 0.003 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_DNA-bd - no_errors AHR HGNC ENSG00000106546 21 0 0.00 32 7 17.95 - - - AKAP9 0 genome.wustl.edu 37 7 91714196 91714196 + Nonsense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 91714196 91714196 C T SNP AKAP9 ENST00000435423 human ensembl 69_37n +1 putative nonsense c.208 p.Q70* 0.994 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region AKAP9 HGNC ENSG00000127914 28 0 0.00 49 23 31.94 - - - AKD1 0 genome.wustl.edu 37 6 109837846 109837846 + Splice_Site SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 109837846 109837846 C T SNP AKD1 ENST00000424296 human ensembl 69_37n -1 known splice_site c.3634-1 e29-1 0.973 - - - no_errors AKD1 HGNC ENSG00000155085 83 0 0.00 90 20 18.18 - - - AKTIP 0 genome.wustl.edu 37 16 53526408 53526408 + Silent SNP T T C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 16 53526408 53526408 T C SNP AKTIP ENST00000300245 human ensembl 69_37n -1 known silent c.798 p.K266 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors AKTIP HGNC ENSG00000166971 34 0 0.00 33 10 23.26 - - - ALDOB 0 genome.wustl.edu 37 9 104187272 104187272 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 9 104187272 104187272 G A SNP ALDOB ENST00000374855 human ensembl 69_37n -1 known silent c.852 p.L284 1.000 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOB HGNC ENSG00000136872 33 0 0.00 47 14 22.95 - - - ALKBH1 0 genome.wustl.edu 37 14 78174215 78174215 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 14 78174215 78174215 C T SNP ALKBH1 ENST00000216489 human ensembl 69_37n -1 known missense c.133 p.D45N 1.000 NULL tigrfam_Alkb - no_errors ALKBH1 HGNC ENSG00000100601 9 0 0.00 3 8 72.73 - - - ALKBH2 0 genome.wustl.edu 37 12 109526219 109526219 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 109526219 109526219 C G SNP ALKBH2 ENST00000343075 human ensembl 69_37n -1 known missense c.578 p.R193T 1.000 pfam_Oxoglu/Fe-dep_dioxygenase pfam_Oxoglu/Fe-dep_dioxygenase - no_errors ALKBH2 HGNC ENSG00000189046 34 0 0.00 21 9 30.00 - - - AMIGO1 0 genome.wustl.edu 37 1 110050164 110050164 + Silent SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 110050164 110050164 G C SNP AMIGO1 ENST00000369862 human ensembl 69_37n -1 known silent c.1371 p.L457 0.980 NULL pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_Ig_I-set,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_Ig-like - no_errors AMIGO1 HGNC ENSG00000181754 22 0 0.00 16 5 23.81 - - - ANGPTL4 0 genome.wustl.edu 37 19 8430846 8430846 + Silent SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 19 8430846 8430846 C G SNP ANGPTL4 ENST00000301455 human ensembl 69_37n +1 known silent c.327 p.L109 0.850 NULL pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPTL4 HGNC ENSG00000167772 45 0 0.00 23 21 47.73 - - - ANK2 0 genome.wustl.edu 37 4 114277934 114277934 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 4 114277934 114277934 C G SNP ANK2 ENST00000357077 human ensembl 69_37n +1 known missense c.8160 p.F2720L 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 32 0 0.00 13 16 53.33 - - - ANKMY2 0 genome.wustl.edu 37 7 16650260 16650260 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 16650260 16650260 C T SNP ANKMY2 ENST00000306999 human ensembl 69_37n -1 known missense c.660 p.M220I 1.000 NULL pfam_Ankyrin_rpt,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND - no_errors ANKMY2 HGNC ENSG00000106524 64 0 0.00 73 27 27.00 - - - ANKRD28 0 genome.wustl.edu 37 3 15711902 15711902 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 15711902 15711902 C T SNP ANKRD28 ENST00000383777 human ensembl 69_37n -1 known missense c.3136 p.E1046K 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD28 HGNC ENSG00000206560 47 0 0.00 49 42 46.15 - - - ANO1 0 genome.wustl.edu 37 11 70007266 70007266 + Splice_Site SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 11 70007266 70007266 G T SNP ANO1 ENST00000355303 human ensembl 69_37n +1 known splice_site c.1579-1 e17-1 1.000 - - - no_errors ANO1 HGNC ENSG00000131620 31 0 0.00 5 7 58.33 - - - ANO3 0 genome.wustl.edu 37 11 26463504 26463504 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 11 26463504 26463504 C T SNP ANO3 ENST00000256737 human ensembl 69_37n +1 known missense c.86 p.S29L 0.138 NULL pfam_Anoctamin - no_errors ANO3 HGNC ENSG00000134343 22 0 0.00 14 13 48.15 - - - APH1A 0 genome.wustl.edu 37 1 150241120 150241120 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 150241120 150241120 G A SNP APH1A ENST00000369109 human ensembl 69_37n -1 known missense c.91 p.R31C 1.000 pfam_Aph-1 pfam_Aph-1 - no_errors APH1A HGNC ENSG00000117362 18 0 0.00 14 15 51.72 - - - APOBEC3B 0 genome.wustl.edu 37 22 39380199 39380199 + Nonsense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 22 39380199 39380199 C G SNP APOBEC3B ENST00000333467 human ensembl 69_37n +1 known nonsense c.137 p.S46* 0.000 pfam_APOBEC_N pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3B HGNC ENSG00000179750 35 0 0.00 22 39 63.93 - - - APOBEC3F 0 genome.wustl.edu 37 22 39440105 39440105 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 22 39440105 39440105 C T SNP APOBEC3F ENST00000381565 human ensembl 69_37n +1 putative silent c.189 p.I63 0.125 NULL pfam_APOBEC_N - no_errors APOBEC3F HGNC ENSG00000128394 69 0 0.00 54 34 38.20 - - - ARFRP1 0 genome.wustl.edu 37 20 62337709 62337709 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 20 62337709 62337709 C T SNP ARFRP1 ENST00000324228 human ensembl 69_37n -1 known silent c.264 p.K88 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_Gprotein_alpha_su,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_Gprotein_alpha_su,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom - no_errors ARFRP1 HGNC ENSG00000101246 27 0 0.00 11 7 38.89 - - - ARHGAP26 0 genome.wustl.edu 37 5 142513542 142513542 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 142513542 142513542 C T SNP ARHGAP26 ENST00000274498 human ensembl 69_37n +1 known missense c.1709 p.T570I 0.996 superfamily_Rho_GTPase_activation_prot pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_IRSp53/MIM_homology_IMD,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP26 HGNC ENSG00000145819 20 0 0.00 13 8 36.36 - - - ARHGAP35 0 genome.wustl.edu 37 19 47424131 47424131 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 19 47424131 47424131 C T SNP ARHGAP35 ENST00000404338 human ensembl 69_37n +1 known silent c.2199 p.L733 0.001 NULL pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 54 0 0.00 36 18 33.33 - - - ARHGAP44 0 genome.wustl.edu 37 17 12847444 12847444 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 12847444 12847444 C T SNP ARHGAP44 ENST00000379672 human ensembl 69_37n +1 known silent c.792 p.S264 0.454 superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP44 HGNC ENSG00000006740 28 0 0.00 13 10 43.48 - - - ARHGAP8 0 genome.wustl.edu 37 22 45182383 45182383 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 22 45182383 45182383 G A SNP ARHGAP8 ENST00000517296 human ensembl 69_37n +1 known silent c.738 p.V246 0.000 NULL pfam_RhoGAP_dom,pfam_HbrB,pfam_CRAL-TRIO_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CRAL-TRIO_dom,smart_RhoGAP_dom,pfscan_CRAL-TRIO_dom,pfscan_RhoGAP_dom - no_errors ARHGAP8 HGNC ENSG00000241484 25 0 0.00 14 7 33.33 - - - ARID4A 0 genome.wustl.edu 37 14 58831283 58831283 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 14 58831283 58831283 C T SNP ARID4A ENST00000355431 human ensembl 69_37n +1 known missense c.2476 p.H826Y 0.005 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ENSG00000032219 18 0 0.00 8 10 55.56 - - - ARPC2 0 genome.wustl.edu 37 2 219110143 219110143 + Nonsense_Mutation SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 219110143 219110143 G T SNP ARPC2 ENST00000295685 human ensembl 69_37n +1 known nonsense c.550 p.E184* 1.000 pfam_P34-arc pfam_P34-arc - no_errors ARPC2 HGNC ENSG00000163466 31 0 0.00 36 6 14.29 - - - ARPP21 0 genome.wustl.edu 37 3 35723355 35723355 + Nonsense_Mutation SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 35723355 35723355 G T SNP ARPP21 ENST00000417925 human ensembl 69_37n +1 known nonsense c.112 p.E38* 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 23 0 0.00 24 21 44.68 - - - ASPHD2 0 genome.wustl.edu 37 22 26829767 26829767 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 22 26829767 26829767 C T SNP ASPHD2 ENST00000215906 human ensembl 69_37n +1 known silent c.186 p.I62 0.009 NULL pfam_Asp_Arg_b-Hydrxlase - no_errors ASPHD2 HGNC ENSG00000128203 24 0 0.00 28 5 15.15 - - - ASPM 0 genome.wustl.edu 37 1 197061148 197061148 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 197061148 197061148 G A SNP ASPM ENST00000367409 human ensembl 69_37n -1 known silent c.9333 p.F3111 0.759 superfamily_ARM-type_fold pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 41 0 0.00 69 51 42.50 - - - ASXL2 0 genome.wustl.edu 37 2 25965240 25965240 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 25965240 25965240 C T SNP ASXL2 ENST00000435504 human ensembl 69_37n -1 known silent c.3966 p.Q1322 0.979 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 20 0 0.00 17 6 26.09 - - - ATAD2 0 genome.wustl.edu 37 8 124383508 124383508 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 8 124383508 124383508 C T SNP ATAD2 ENST00000287394 human ensembl 69_37n -1 known missense c.607 p.E203K 1.000 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 77 0 0.00 104 25 19.38 - - - ATAD2B 0 genome.wustl.edu 37 2 24046241 24046241 + Missense_Mutation SNP T T A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 24046241 24046241 T A SNP ATAD2B ENST00000238789 human ensembl 69_37n -1 known missense c.2018 p.H673L 1.000 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2B HGNC ENSG00000119778 41 0 0.00 47 17 26.56 - - - ATAD5 0 genome.wustl.edu 37 17 29221087 29221087 + Missense_Mutation SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 29221087 29221087 G T SNP ATAD5 ENST00000321990 human ensembl 69_37n +1 known missense c.5216 p.R1739I 0.987 NULL pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 38 0 0.00 45 27 37.50 - - - ATP11B 0 genome.wustl.edu 37 3 182605459 182605459 + Missense_Mutation SNP A A T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 182605459 182605459 A T SNP ATP11B ENST00000323116 human ensembl 69_37n +1 known missense c.2801 p.H934L 1.000 tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP11B HGNC ENSG00000058063 48 0 0.00 101 17 14.29 - - - ATP13A3 0 genome.wustl.edu 37 3 194154626 194154626 + Splice_Site SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 194154626 194154626 C G SNP ATP13A3 ENST00000256031 human ensembl 69_37n -1 known splice_site c.2121-1 e19-1 1.000 - - - no_errors ATP13A3 HGNC ENSG00000133657 47 0 0.00 68 60 46.51 - - - ATP5G2 0 genome.wustl.edu 37 12 54063126 54063126 + Splice_Site SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 54063126 54063126 C T SNP ATP5G2 ENST00000394349 human ensembl 69_37n -1 known splice_site c.289-1 e4-1 0.159 - - - no_errors ATP5G2 HGNC ENSG00000135390 47 0 0.00 37 10 21.28 - - - ATP6V0A4 0 genome.wustl.edu 37 7 138437565 138437566 + Frame_Shift_Del DEL CT CT - TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 138437565 138437566 CT - DEL ATP6V0A4 ENST00000310018 human ensembl 69_37n -1 known frame_shift_del c.834_833 p.E278fs 0.997:1.000 pfam_ATPase_V0/A0_a pfam_ATPase_V0/A0_a - no_errors ATP6V0A4 HGNC ENSG00000105929 31 0 0.00 28 4 12.50 - - - AVIL 0 genome.wustl.edu 37 12 58204223 58204223 + Missense_Mutation SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 58204223 58204223 G T SNP AVIL ENST00000257861 human ensembl 69_37n -1 known missense c.670 p.Q224K 0.993 smart_Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece - no_errors AVIL HGNC ENSG00000135407 34 0 0.00 36 11 22.92 - - - B3GNT5 0 genome.wustl.edu 37 3 182988034 182988034 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 182988034 182988034 G C SNP B3GNT5 ENST00000326505 human ensembl 69_37n +1 known missense c.448 p.D150H 1.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31,superfamily_Luciferase-like_dom - no_errors B3GNT5 HGNC ENSG00000176597 21 0 0.00 39 16 28.57 - - - B3GNT5 0 genome.wustl.edu 37 3 182988373 182988373 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 182988373 182988373 G A SNP B3GNT5 ENST00000326505 human ensembl 69_37n +1 known missense c.787 p.D263N 1.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31,superfamily_Luciferase-like_dom - no_errors B3GNT5 HGNC ENSG00000176597 42 0 0.00 43 10 18.52 - - - BAZ2B 0 genome.wustl.edu 37 2 160206643 160206643 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 160206643 160206643 G A SNP BAZ2B ENST00000392783 human ensembl 69_37n -1 known missense c.4439 p.P1480L 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 36 0 0.00 42 27 39.13 - - - BBS9 0 genome.wustl.edu 37 7 33388754 33388754 + Silent SNP T T C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 33388754 33388754 T C SNP BBS9 ENST00000242067 human ensembl 69_37n +1 known silent c.1404 p.T468 0.573 NULL NULL - no_errors BBS9 HGNC ENSG00000122507 74 0 0.00 137 22 13.84 - - - BCAS1 0 genome.wustl.edu 37 20 52674691 52674691 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 20 52674691 52674691 G A SNP BCAS1 ENST00000371440 human ensembl 69_37n -1 known silent c.75 p.D25 0.000 NULL NULL - no_errors BCAS1 HGNC ENSG00000064787 20 0 0.00 25 11 30.56 - - - BCORL1 0 genome.wustl.edu 37 X 129146580 129146580 + Nonsense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 129146580 129146580 C G SNP BCORL1 ENST00000303743 human ensembl 69_37n +1 known nonsense c.113 p.S38* 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 61 0 0.00 86 40 31.75 - - - BDP1 0 genome.wustl.edu 37 5 70808186 70808186 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 70808186 70808186 C G SNP BDP1 ENST00000358731 human ensembl 69_37n +1 known missense c.4178 p.S1393C 0.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 39 0 0.00 43 12 21.82 - - - BNIP2 0 genome.wustl.edu 37 15 59963389 59963389 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 15 59963389 59963389 C T SNP BNIP2 ENST00000267859 human ensembl 69_37n -1 known missense c.1063 p.D355N 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors BNIP2 HGNC ENSG00000140299 56 0 0.00 81 46 36.22 - - - BPTF 0 genome.wustl.edu 37 17 65905793 65905793 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 65905793 65905793 G C SNP BPTF ENST00000321892 human ensembl 69_37n +1 known missense c.3286 p.D1096H 0.622 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 35 0 0.00 43 6 12.24 - - - BSN 0 genome.wustl.edu 37 3 49701937 49701937 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 49701937 49701937 C G SNP BSN ENST00000296452 human ensembl 69_37n +1 known missense c.11690 p.S3897C 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 30 0 0.00 11 31 73.81 - - - BTBD19 0 genome.wustl.edu 37 1 45275974 45275974 + Missense_Mutation SNP T T G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 45275974 45275974 T G SNP BTBD19 ENST00000450269 human ensembl 69_37n +1 known missense c.176 p.L59R 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD19 HGNC ENSG00000222009 45 0 0.00 37 14 27.45 - - - C10orf129 0 genome.wustl.edu 37 10 96974700 96974700 + Missense_Mutation SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 10 96974700 96974700 G T SNP C10orf129 ENST00000341686 human ensembl 69_37n +1 known missense c.1087 p.D363Y 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors C10orf129 HGNC ENSG00000173124 42 0 0.00 35 32 47.76 - - - C10orf68 0 genome.wustl.edu 37 10 32974906 32974906 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 10 32974906 32974906 G A SNP C10orf68 ENST00000375025 human ensembl 69_37n +1 known missense c.52 p.E18K 0.000 NULL NULL - no_errors C10orf68 HGNC ENSG00000150076 29 0 0.00 22 30 57.69 - - - C16orf93 0 genome.wustl.edu 37 16 30771679 30771679 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 16 30771679 30771679 C T SNP C16orf93 ENST00000543610 human ensembl 69_37n -1 known missense c.395 p.R132H 1.000 NULL NULL - no_errors C16orf93 HGNC ENSG00000196118 35 0 0.00 61 15 19.23 - - - C18orf34 0 genome.wustl.edu 37 18 30825244 30825244 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 18 30825244 30825244 C T SNP C18orf34 ENST00000406524 human ensembl 69_37n -1 known missense c.1558 p.E520K 0.923 NULL NULL - no_errors C18orf34 HGNC ENSG00000166960 111 0 0.00 98 40 28.99 - - - C1orf192 0 genome.wustl.edu 37 1 161335346 161335346 + Silent SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 161335346 161335346 G T SNP C1orf192 ENST00000367974 human ensembl 69_37n -1 known silent c.318 p.S106 1.000 NULL NULL - no_errors C1orf192 HGNC ENSG00000188931 29 0 0.00 52 8 13.33 - - - C2orf78 0 genome.wustl.edu 37 2 74043812 74043812 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 74043812 74043812 C T SNP C2orf78 ENST00000409561 human ensembl 69_37n +1 novel missense c.2462 p.S821F 0.002 NULL NULL - no_errors C2orf78 HGNC ENSG00000187833 45 0 0.00 40 45 52.94 - - - C2orf81 0 genome.wustl.edu 37 2 74642708 74642708 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 74642708 74642708 G A SNP C2orf81 ENST00000290390 human ensembl 69_37n -1 known missense c.515 p.S172L 0.000 NULL NULL - no_errors C2orf81 HGNC ENSG00000159239 14 0 0.00 15 5 25.00 - - - C3orf77 0 genome.wustl.edu 37 3 44285072 44285072 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 44285072 44285072 G C SNP C3orf77 ENST00000309765 human ensembl 69_37n +1 known missense c.1074 p.L358F 0.002 NULL NULL - no_errors C3orf77 HGNC ENSG00000173769 15 0 0.00 17 21 55.26 - - - C4orf21 0 genome.wustl.edu 37 4 113461086 113461086 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 4 113461086 113461086 C T SNP C4orf21 ENST00000505019 human ensembl 69_37n -1 known silent c.6105 p.L2035 1.000 NULL pfam_DUF2439,pfam_Znf_GRF - no_errors C4orf21 HGNC ENSG00000138658 51 0 0.00 29 20 40.82 - - - C7orf10 0 genome.wustl.edu 37 7 40535914 40535914 + Missense_Mutation SNP T T C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 40535914 40535914 T C SNP C7orf10 ENST00000309930 human ensembl 69_37n +1 known missense c.1039 p.Y347H 0.000 superfamily_CoA-Trfase_III_dom pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom - no_errors C7orf10 HGNC ENSG00000175600 65 0 0.00 98 19 16.24 - - - C9orf96 0 genome.wustl.edu 37 9 136262418 136262418 + Missense_Mutation SNP T T A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 9 136262418 136262418 T A SNP C9orf96 ENST00000371957 human ensembl 69_37n +1 known missense c.994 p.L332I 0.579 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors C9orf96 HGNC ENSG00000198870 23 0 0.00 14 13 48.15 - - - CA14 0 genome.wustl.edu 37 1 150235209 150235209 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 150235209 150235209 G A SNP CA14 ENST00000369111 human ensembl 69_37n +1 known missense c.502 p.E168K 0.892 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA14 HGNC ENSG00000118298 24 0 0.00 35 16 31.37 - - - CAMTA1 0 genome.wustl.edu 37 1 7309651 7309651 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 7309651 7309651 G C SNP CAMTA1 ENST00000303635 human ensembl 69_37n +1 known missense c.403 p.E135Q 1.000 pfam_CG-1_dom pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 41 0 0.00 51 28 35.44 - - - CAPN6 0 genome.wustl.edu 37 X 110491214 110491214 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 110491214 110491214 C T SNP CAPN6 ENST00000324068 human ensembl 69_37n -1 known silent c.1491 p.L497 1.000 superfamily_Calpain_domain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_Ca-dep,superfamily_Calpain_domain_III,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_Ca-dep,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN6 HGNC ENSG00000077274 46 0 0.00 56 13 18.84 - - - CAPN6 0 genome.wustl.edu 37 X 110494949 110494949 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 110494949 110494949 C T SNP CAPN6 ENST00000324068 human ensembl 69_37n -1 known missense c.721 p.E241K 0.934 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_Ca-dep,superfamily_Calpain_domain_III,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_Ca-dep,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN6 HGNC ENSG00000077274 36 0 0.00 58 19 24.68 - - - CASK 0 genome.wustl.edu 37 X 41390311 41390311 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 41390311 41390311 G C SNP CASK ENST00000378163 human ensembl 69_37n -1 known missense c.2469 p.I823M 1.000 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin pfam_Prot_kinase_cat_dom,pfam_Guanylate_kin,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Guanylate_kin - no_errors CASK HGNC ENSG00000147044 46 0 0.00 68 41 36.94 - - - CATSPER3 0 genome.wustl.edu 37 5 134305689 134305689 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 134305689 134305689 G C SNP CATSPER3 ENST00000282611 human ensembl 69_37n +1 known missense c.159 p.K53N 0.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER3 HGNC ENSG00000152705 93 0 0.00 69 21 23.08 - - - CATSPERG 0 genome.wustl.edu 37 19 38858194 38858194 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 19 38858194 38858194 C T SNP CATSPERG ENST00000409235 human ensembl 69_37n +1 known missense c.2816 p.S939F 0.749 NULL NULL - no_errors CATSPERG HGNC ENSG00000099338 69 0 0.00 76 26 25.49 - - - CCDC129 0 genome.wustl.edu 37 7 31617842 31617842 + Missense_Mutation SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 31617842 31617842 G T SNP CCDC129 ENST00000451887 human ensembl 69_37n +1 known missense c.1042 p.D348Y 0.000 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 32 0 0.00 53 11 17.19 - - - CCDC17 0 genome.wustl.edu 37 1 46088486 46088486 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 46088486 46088486 C T SNP CCDC17 ENST00000343901 human ensembl 69_37n -1 known missense c.581 p.R194Q 0.000 NULL NULL - no_errors CCDC17 HGNC ENSG00000159588 14 0 0.00 18 6 25.00 - - - CCDC50 0 genome.wustl.edu 37 3 191093368 191093368 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 191093368 191093368 C T SNP CCDC50 ENST00000392456 human ensembl 69_37n +1 known silent c.966 p.L322 0.000 NULL NULL - no_errors CCDC50 HGNC ENSG00000152492 22 0 0.00 24 20 44.44 - - - CCDC77 0 genome.wustl.edu 37 12 521048 521048 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 521048 521048 C T SNP CCDC77 ENST00000239830 human ensembl 69_37n +1 known silent c.174 p.L58 0.998 NULL NULL - no_errors CCDC77 HGNC ENSG00000120647 27 0 0.00 33 10 22.73 - - - CCDC79 0 genome.wustl.edu 37 16 66819953 66819953 + Missense_Mutation SNP T T C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 16 66819953 66819953 T C SNP CCDC79 ENST00000433154 human ensembl 69_37n -1 known missense c.541 p.S181G 1.000 superfamily_ARM-type_fold pfam_SANT/Myb,superfamily_ARM-type_fold,superfamily_Homeodomain-like,superfamily_Cytokine_IL1-like,smart_SANT/Myb - no_errors CCDC79 HGNC ENSG00000249961 33 0 0.00 33 15 31.25 - - - CCL2 0 genome.wustl.edu 37 17 32583746 32583746 + Missense_Mutation SNP A A G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 32583746 32583746 A G SNP CCL2 ENST00000225831 human ensembl 69_37n +1 known missense c.200 p.K67R 0.959 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL2 HGNC ENSG00000108691 22 0 0.00 33 8 19.51 - - - CCM2 0 genome.wustl.edu 37 7 45108170 45108170 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 45108170 45108170 G A SNP CCM2 ENST00000381112 human ensembl 69_37n +1 known missense c.664 p.E222K 0.998 pfscan_PTyr_interaction_dom pfscan_PTyr_interaction_dom - no_errors CCM2 HGNC ENSG00000136280 27 0 0.00 22 6 21.43 - - - CCNT1 0 genome.wustl.edu 37 12 49088068 49088068 + Missense_Mutation SNP A A G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 49088068 49088068 A G SNP CCNT1 ENST00000261900 human ensembl 69_37n -1 known missense c.929 p.V310A 0.996 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT1 HGNC ENSG00000129315 68 0 0.00 41 22 34.92 - - - CCPG1 0 genome.wustl.edu 37 15 55651931 55651931 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 15 55651931 55651931 G A SNP CCPG1 ENST00000310958 human ensembl 69_37n -1 known silent c.2040 p.F680 1.000 NULL NULL - no_errors CCPG1 HGNC ENSG00000260916 30 0 0.00 57 12 17.39 - - - CD163L1 0 genome.wustl.edu 37 12 7527045 7527045 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 7527045 7527045 G C SNP CD163L1 ENST00000313599 human ensembl 69_37n -1 known missense c.3402 p.I1134M 1.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors CD163L1 HGNC ENSG00000177675 21 0 0.00 16 5 23.81 - - - CD200R1L 0 genome.wustl.edu 37 3 112546483 112546483 + Missense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 112546483 112546483 C A SNP CD200R1L ENST00000398214 human ensembl 69_37n -1 known missense c.161 p.C54F 0.019 NULL pfam_CD80_C2-set,pfscan_Ig-like - no_errors CD200R1L HGNC ENSG00000206531 72 0 0.00 44 47 51.65 - - - CD34 0 genome.wustl.edu 37 1 208062855 208062855 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 208062855 208062855 C T SNP CD34 ENST00000310833 human ensembl 69_37n -1 known missense c.709 p.E237K 0.991 pfam_CD34/Podocalyxin,prints_CD34 pfam_CD34/Podocalyxin,prints_CD34 - no_errors CD34 HGNC ENSG00000174059 38 0 0.00 70 8 10.26 - - - CD47 0 genome.wustl.edu 37 3 107776388 107776388 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 107776388 107776388 C T SNP CD47 ENST00000361309 human ensembl 69_37n -1 known silent c.813 p.L271 1.000 pfam_CD47_TM pfam_CD47_Vset,pfam_CD47_TM,pfscan_Ig-like - no_errors CD47 HGNC ENSG00000196776 36 0 0.00 36 42 53.85 - - - CD86 0 genome.wustl.edu 37 3 121822403 121822403 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 121822403 121822403 G A SNP CD86 ENST00000330540 human ensembl 69_37n +1 known missense c.109 p.D37N 0.019 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors CD86 HGNC ENSG00000114013 27 0 0.00 26 21 44.68 - - - CDR2 0 genome.wustl.edu 37 16 22358682 22358682 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 16 22358682 22358682 G A SNP CDR2 ENST00000268383 human ensembl 69_37n -1 known silent c.969 p.I323 0.064 NULL NULL - no_errors CDR2 HGNC ENSG00000140743 42 0 0.00 23 21 46.67 - - - CENPE 0 genome.wustl.edu 37 4 104061023 104061023 + Nonsense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 4 104061023 104061023 C A SNP CENPE ENST00000265148 human ensembl 69_37n -1 known nonsense c.6127 p.E2043* 0.487 NULL pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 60 0 0.00 68 54 44.26 - - - CEP250 0 genome.wustl.edu 37 20 34057805 34057805 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 20 34057805 34057805 G A SNP CEP250 ENST00000397527 human ensembl 69_37n +1 known silent c.942 p.E314 1.000 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 21 0 0.00 36 8 18.18 - - - CEP250 0 genome.wustl.edu 37 20 34092674 34092674 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 20 34092674 34092674 G A SNP CEP250 ENST00000397527 human ensembl 69_37n +1 known silent c.6477 p.L2159 1.000 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 21 0 0.00 20 6 23.08 - - - CEP350 0 genome.wustl.edu 37 1 180003096 180003096 + Silent SNP A A G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 180003096 180003096 A G SNP CEP350 ENST00000367607 human ensembl 69_37n +1 known silent c.3825 p.S1275 0.449 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 40 0 0.00 92 13 12.38 - - - CEP85 0 genome.wustl.edu 37 1 26584203 26584203 + Nonsense_Mutation SNP A A T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 26584203 26584203 A T SNP CEP85 ENST00000453146 human ensembl 69_37n +1 known nonsense c.40 p.K14* 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CEP85 HGNC ENSG00000130695 35 0 0.00 32 8 20.00 - - - CEP97 0 genome.wustl.edu 37 3 101484237 101484237 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 101484237 101484237 G A SNP CEP97 ENST00000327230 human ensembl 69_37n +1 known missense c.2518 p.D840N 0.927 NULL pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors CEP97 HGNC ENSG00000182504 33 0 0.00 15 26 63.41 - - - CES4A 0 genome.wustl.edu 37 16 67038094 67038094 + Silent SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 16 67038094 67038094 C G SNP CES4A ENST00000326686 human ensembl 69_37n +1 known silent c.1047 p.V349 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES4A HGNC ENSG00000172824 73 0 0.00 52 18 25.71 - - - CHD6 0 genome.wustl.edu 37 20 40117094 40117094 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 20 40117094 40117094 G A SNP CHD6 ENST00000373233 human ensembl 69_37n -1 known silent c.1831 p.L611 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 55 0 0.00 58 30 34.09 - - - CHGB 0 genome.wustl.edu 37 20 5903756 5903756 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 20 5903756 5903756 G A SNP CHGB ENST00000378961 human ensembl 69_37n +1 known silent c.966 p.G322 0.969 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGB HGNC ENSG00000089199 24 0 0.00 20 13 39.39 - - - CHSY3 0 genome.wustl.edu 37 5 129243966 129243966 + Silent SNP T T C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 129243966 129243966 T C SNP CHSY3 ENST00000305031 human ensembl 69_37n +1 known silent c.999 p.L333 0.059 pfam_Chond_GalNAc,pfam_Fringe-like pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY3 HGNC ENSG00000198108 72 0 0.00 76 21 21.65 - - - CLCA2 0 genome.wustl.edu 37 1 86894140 86894140 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 86894140 86894140 G A SNP CLCA2 ENST00000370565 human ensembl 69_37n +1 known missense c.364 p.D122N 0.998 pfam_Cl_channel_Ca,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA2 HGNC ENSG00000137975 34 0 0.00 53 11 17.19 - - - CLDN10 0 genome.wustl.edu 37 13 96212695 96212695 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 13 96212695 96212695 G C SNP CLDN10 ENST00000299339 human ensembl 69_37n +1 known missense c.442 p.D148H 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin10,prints_Claudin - no_errors CLDN10 HGNC ENSG00000134873 67 0 0.00 161 52 24.41 - - - CLIP1 0 genome.wustl.edu 37 12 122861994 122861994 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 122861994 122861994 G A SNP CLIP1 ENST00000540338 human ensembl 69_37n -1 known missense c.599 p.S200L 1.000 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain - no_errors CLIP1 HGNC ENSG00000130779 97 0 0.00 96 27 21.77 - - - CLSTN3 0 genome.wustl.edu 37 12 7301602 7301602 + Nonsense_Mutation SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 7301602 7301602 G T SNP CLSTN3 ENST00000266546 human ensembl 69_37n +1 known nonsense c.1882 p.E628* 0.991 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN3 HGNC ENSG00000139182 20 0 0.00 14 4 22.22 - - - CLTCL1 0 genome.wustl.edu 37 22 19223377 19223377 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 22 19223377 19223377 C T SNP CLTCL1 ENST00000263200 human ensembl 69_37n -1 known missense c.811 p.G271S 1.000 superfamily_Clathrin_H-chain_propeller_N,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC ENSG00000070371 42 0 0.00 44 9 16.98 - - - CMYA5 0 genome.wustl.edu 37 5 79027850 79027850 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 79027850 79027850 G A SNP CMYA5 ENST00000446378 human ensembl 69_37n +1 known missense c.3262 p.E1088K 0.086 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 26 0 0.00 46 11 19.30 - - - CNOT10 0 genome.wustl.edu 37 3 32767040 32767040 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 32767040 32767040 C G SNP CNOT10 ENST00000454516 human ensembl 69_37n +1 known missense c.1141 p.Q381E 1.000 pfam_TPR-1,smart_TPR_repeat pfam_TPR-1,smart_TPR_repeat - no_errors CNOT10 HGNC ENSG00000182973 45 0 0.00 21 34 60.71 - - - CNP 0 genome.wustl.edu 37 17 40120676 40120676 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 40120676 40120676 C T SNP CNP ENST00000393892 human ensembl 69_37n +1 known silent c.594 p.S198 0.570 pfam_CNPase,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_CNPase pfam_CNPase,pfam_Zeta_toxin_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_CNPase - no_errors CNP HGNC ENSG00000173786 9 0 0.00 20 5 20.00 - - - CNTN6 0 genome.wustl.edu 37 3 1445027 1445027 + Missense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 1445027 1445027 C A SNP CNTN6 ENST00000350110 human ensembl 69_37n +1 known missense c.3012 p.F1004L 0.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN6 HGNC ENSG00000134115 67 0 0.00 56 60 51.72 - - - CNTNAP1 0 genome.wustl.edu 37 17 40838993 40838993 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 40838993 40838993 G A SNP CNTNAP1 ENST00000264638 human ensembl 69_37n +1 known missense c.973 p.E325K 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 18 0 0.00 16 5 23.81 - - - COL23A1 0 genome.wustl.edu 37 5 177676193 177676193 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 177676193 177676193 C G SNP COL23A1 ENST00000390654 human ensembl 69_37n -1 known missense c.1074 p.Q358H 0.074 pfam_Collagen pfam_Collagen - no_errors COL23A1 HGNC ENSG00000050767 41 0 0.00 47 29 38.16 - - - COL6A6 0 genome.wustl.edu 37 3 130289703 130289703 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 130289703 130289703 G A SNP COL6A6 ENST00000358511 human ensembl 69_37n +1 known missense c.2443 p.D815N 0.999 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 37 0 0.00 17 24 58.54 - - - COQ4 0 genome.wustl.edu 37 9 131095838 131095838 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 9 131095838 131095838 G A SNP COQ4 ENST00000300452 human ensembl 69_37n +1 known missense c.712 p.E238K 1.000 pfam_CoenzQ_biosynthesis_Coq4 pfam_CoenzQ_biosynthesis_Coq4 - no_errors COQ4 HGNC ENSG00000167113 19 0 0.00 9 6 40.00 - - - COTL1 0 genome.wustl.edu 37 16 84623740 84623740 + Missense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 16 84623740 84623740 C A SNP COTL1 ENST00000262428 human ensembl 69_37n -1 known missense c.289 p.D97Y 1.000 pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin - no_errors COTL1 HGNC ENSG00000103187 19 0 0.00 14 8 36.36 - - - CPAMD8 0 genome.wustl.edu 37 19 17014404 17014404 + Nonstop_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 19 17014404 17014404 C G SNP CPAMD8 ENST00000443236 human ensembl 69_37n -1 known nonstop c.4610 p.*1537S 1.000 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CPAMD8 HGNC ENSG00000160111 47 0 0.00 33 22 40.00 - - - CPS1 0 genome.wustl.edu 37 2 211455582 211455582 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 211455582 211455582 C T SNP CPS1 ENST00000430249 human ensembl 69_37n +1 known missense c.917 p.T306I 1.000 pfam_GATASE_1,tigrfam_CarbamoylP_synth_ssu 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 34 0 0.00 40 20 33.33 - - - CPSF3L 0 genome.wustl.edu 37 1 1250299 1250299 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 1250299 1250299 C T SNP CPSF3L ENST00000540437 human ensembl 69_37n -1 known missense c.625 p.E209K 1.000 smart_Beta-lactamas-like pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like - no_errors CPSF3L HGNC ENSG00000127054 42 0 0.00 33 18 35.29 - - - CREB5 0 genome.wustl.edu 37 7 28843891 28843891 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 28843891 28843891 G A SNP CREB5 ENST00000357727 human ensembl 69_37n +1 known missense c.778 p.E260K 1.000 pirsf_TF_cAMP-dep pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors CREB5 HGNC ENSG00000146592 108 0 0.00 56 47 45.63 - - - CREBBP 0 genome.wustl.edu 37 16 3900736 3900736 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 16 3900736 3900736 C T SNP CREBBP ENST00000262367 human ensembl 69_37n -1 known silent c.360 p.K120 1.000 NULL 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 9 0 0.00 13 13 50.00 - - - CRYZL1 0 genome.wustl.edu 37 21 34969637 34969637 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 21 34969637 34969637 G A SNP CRYZL1 ENST00000440526 human ensembl 69_37n -1 putative missense c.577 p.H193Y 1.000 smart_PKS_ER pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CRYZL1 HGNC ENSG00000205758 88 0 0.00 89 103 53.65 - - - CSDE1 0 genome.wustl.edu 37 1 115284172 115284172 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 115284172 115284172 C G SNP CSDE1 ENST00000369530 human ensembl 69_37n -1 known missense c.114 p.K38N 1.000 NULL pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot - no_errors CSDE1 HGNC ENSG00000009307 88 0 0.00 70 23 24.73 - - - CSMD2 0 genome.wustl.edu 37 1 34090797 34090797 + Missense_Mutation SNP T T A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 34090797 34090797 T A SNP CSMD2 ENST00000373381 human ensembl 69_37n -1 known missense c.5354 p.K1785M 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 19 0 0.00 14 6 30.00 - - - CSMD2 0 genome.wustl.edu 37 1 34204850 34204850 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 34204850 34204850 G A SNP CSMD2 ENST00000373381 human ensembl 69_37n -1 known silent c.2259 p.I753 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 22 0 0.00 29 7 19.44 - - - CSMD3 0 genome.wustl.edu 37 8 113326143 113326143 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 8 113326143 113326143 C T SNP CSMD3 ENST00000297405 human ensembl 69_37n -1 known missense c.7688 p.R2563K 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 59 0 0.00 75 36 32.43 - - - CSPG4 0 genome.wustl.edu 37 15 75980264 75980264 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 15 75980264 75980264 C T SNP CSPG4 ENST00000308508 human ensembl 69_37n -1 known missense c.3142 p.D1048N 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 16 0 0.00 6 7 53.85 - - - CSPP1 0 genome.wustl.edu 37 8 68028194 68028194 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 8 68028194 68028194 G C SNP CSPP1 ENST00000262210 human ensembl 69_37n +1 known missense c.1318 p.E440Q 1.000 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 60 0 0.00 54 45 45.45 - - - CSRNP3 0 genome.wustl.edu 37 2 166532849 166532849 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 166532849 166532849 G C SNP CSRNP3 ENST00000314499 human ensembl 69_37n +1 known missense c.436 p.E146Q 1.000 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP3 HGNC ENSG00000178662 26 0 0.00 28 19 40.43 - - - CT47B1 0 genome.wustl.edu 37 X 120009245 120009245 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 120009245 120009245 C T SNP CT47B1 ENST00000371311 human ensembl 69_37n -1 known missense c.280 p.E94K 0.002 NULL NULL - no_errors CT47B1 HGNC ENSG00000236446 23 0 0.00 12 11 47.83 - - - CUL7 0 genome.wustl.edu 37 6 43005599 43005599 + Nonsense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 43005599 43005599 G A SNP CUL7 ENST00000535468 human ensembl 69_37n -1 known nonsense c.5176 p.Q1726* 0.835 smart_Cullin_neddylation_domain pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 24 0 0.00 14 6 30.00 - - - CWF19L2 0 genome.wustl.edu 37 11 107288973 107288973 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 11 107288973 107288973 C T SNP CWF19L2 ENST00000282251 human ensembl 69_37n -1 known missense c.1474 p.E492K 1.000 NULL pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L2 HGNC ENSG00000152404 98 0 0.00 73 42 36.52 - - - CWF19L2 0 genome.wustl.edu 37 11 107299925 107299925 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 11 107299925 107299925 C G SNP CWF19L2 ENST00000282251 human ensembl 69_37n -1 known missense c.1033 p.E345Q 0.803 NULL pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L2 HGNC ENSG00000152404 68 0 0.00 54 45 45.00 - - - CYP26B1 0 genome.wustl.edu 37 2 72362039 72362039 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 72362039 72362039 G C SNP CYP26B1 ENST00000001146 human ensembl 69_37n -1 known missense c.712 p.Q238E 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP26B1 HGNC ENSG00000003137 32 0 0.00 33 27 45.00 - - - CYP2B6 0 genome.wustl.edu 37 19 41518202 41518202 + Splice_Site SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 19 41518202 41518202 G C SNP CYP2B6 ENST00000324071 human ensembl 69_37n +1 known splice_site c.965-1 e7-1 1.000 - - - no_errors CYP2B6 HGNC ENSG00000197408 19 0 0.00 39 10 20.41 - - - CYP3A4 0 genome.wustl.edu 37 7 99366023 99366023 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 99366023 99366023 C G SNP CYP3A4 ENST00000336411 human ensembl 69_37n -1 known missense c.624 p.K208N 0.795 pfam_Cyt_P450,superfamily_Cyt_P450 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 83 0 0.00 124 42 25.30 - - - CYP3A7 0 genome.wustl.edu 37 7 99315217 99315217 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 99315217 99315217 C T SNP CYP3A7 ENST00000336374 human ensembl 69_37n -1 known missense c.364 p.E122K 0.573 pfam_Cyt_P450,superfamily_Cyt_P450 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 CYP3A7 HGNC ENSG00000160870 76 0 0.00 106 37 25.87 - - - CYP51A1 0 genome.wustl.edu 37 7 91747923 91747923 + Missense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 91747923 91747923 C A SNP CYP51A1 ENST00000003100 human ensembl 69_37n -1 known missense c.1093 p.D365Y 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP51A1 HGNC ENSG00000001630 47 0 0.00 58 12 17.14 - - - CYTH3 0 genome.wustl.edu 37 7 6204633 6204633 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 6204633 6204633 C G SNP CYTH3 ENST00000350796 human ensembl 69_37n -1 known missense c.1142 p.R381T 1.000 smart_Pleckstrin_homology pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7 - no_errors CYTH3 HGNC ENSG00000008256 44 0 0.00 104 30 22.39 - - - DBC1 0 genome.wustl.edu 37 9 121930379 121930379 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 9 121930379 121930379 C T SNP DBC1 ENST00000265922 human ensembl 69_37n -1 known silent c.1269 p.Q423 1.000 NULL pfam_MACPF,smart_MACPF - no_errors DBC1 HGNC ENSG00000078725 25 0 0.00 20 13 38.24 - - - DDX11 0 genome.wustl.edu 37 12 31256307 31256307 + Nonsense_Mutation SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 31256307 31256307 G T SNP DDX11 ENST00000407793 human ensembl 69_37n +1 known nonsense c.2509 p.E837* 1.000 smart_ATP-dep_Helicase_C pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors DDX11 HGNC ENSG00000013573 29 0 0.00 27 12 30.77 - - - DDX19A 0 genome.wustl.edu 37 16 70400064 70400064 + Nonsense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 16 70400064 70400064 C G SNP DDX19A ENST00000575878 human ensembl 69_37n +1 novel nonsense c.434 p.S145* 0.999 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DDX19A HGNC ENSG00000168872 69 0 0.00 52 17 23.94 - - - DDX20 0 genome.wustl.edu 37 1 112309444 112309444 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 112309444 112309444 C G SNP DDX20 ENST00000369702 human ensembl 69_37n +1 known missense c.2398 p.Q800E 0.873 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX20 HGNC ENSG00000064703 21 0 0.00 17 6 26.09 - - - DDX26B 0 genome.wustl.edu 37 X 134686019 134686019 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 134686019 134686019 C T SNP DDX26B ENST00000370752 human ensembl 69_37n +1 known missense c.1007 p.S336L 0.998 NULL pfscan_VWF_A - no_errors DDX26B HGNC ENSG00000165359 55 0 0.00 78 37 31.90 - - - DDX47 0 genome.wustl.edu 37 12 12967130 12967130 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 12967130 12967130 G C SNP DDX47 ENST00000358007 human ensembl 69_37n +1 known missense c.153 p.Q51H 0.972 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_RNA_helicase_DEAD_Q_motif pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX47 HGNC ENSG00000213782 64 0 0.00 82 12 12.63 - - - DENND5B 0 genome.wustl.edu 37 12 31545556 31545556 + Nonsense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 31545556 31545556 C A SNP DENND5B ENST00000306833 human ensembl 69_37n -1 known nonsense c.3436 p.E1146* 1.000 NULL pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run - no_errors DENND5B HGNC ENSG00000170456 71 0 0.00 67 16 19.28 - - - DEPTOR 0 genome.wustl.edu 37 8 121019105 121019105 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 8 121019105 121019105 G A SNP DEPTOR ENST00000286234 human ensembl 69_37n +1 known silent c.987 p.K329 1.000 superfamily_PDZ pfam_DEP_dom,superfamily_PDZ,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ - no_errors DEPTOR HGNC ENSG00000155792 59 0 0.00 51 19 27.14 - - - DGKH 0 genome.wustl.edu 37 13 42733494 42733494 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 13 42733494 42733494 G A SNP DGKH ENST00000337343 human ensembl 69_37n +1 known missense c.715 p.E239K 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKH HGNC ENSG00000102780 30 0 0.00 16 13 44.83 - - - DGUOK 0 genome.wustl.edu 37 2 74184263 74184263 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 74184263 74184263 G C SNP DGUOK ENST00000264093 human ensembl 69_37n +1 known missense c.603 p.K201N 1.000 pfam_Deoxynucleoside_kinase pfam_Deoxynucleoside_kinase - no_errors DGUOK HGNC ENSG00000114956 31 0 0.00 54 26 32.50 - - - DKK1 0 genome.wustl.edu 37 10 54074293 54074293 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 10 54074293 54074293 G A SNP DKK1 ENST00000373970 human ensembl 69_37n +1 known silent c.99 p.L33 0.995 NULL pfam_Dickkopf_N - no_errors DKK1 HGNC ENSG00000107984 13 0 0.00 9 7 43.75 - - - DLC1 0 genome.wustl.edu 37 8 12952717 12952717 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 8 12952717 12952717 C G SNP DLC1 ENST00000276297 human ensembl 69_37n -1 known missense c.3205 p.D1069H 1.000 NULL pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 30 0 0.00 16 8 33.33 - - - DLG1 0 genome.wustl.edu 37 3 196792627 196792627 + Missense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 196792627 196792627 C A SNP DLG1 ENST00000346964 human ensembl 69_37n -1 known missense c.2251 p.D751Y 1.000 pfam_Guanylate_kin,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_Guanylate_kin pfam_Guanylate_kin,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG1 HGNC ENSG00000075711 59 0 0.00 135 26 16.05 - - - DNAAF2 0 genome.wustl.edu 37 14 50094744 50094744 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 14 50094744 50094744 G C SNP DNAAF2 ENST00000298292 human ensembl 69_37n -1 known missense c.1993 p.Q665E 0.959 NULL NULL - no_errors DNAAF2 HGNC ENSG00000165506 38 0 0.00 17 14 43.75 - - - DNAH14 0 genome.wustl.edu 37 1 225147894 225147894 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 225147894 225147894 C T SNP DNAH14 ENST00000430092 human ensembl 69_37n +1 known missense c.257 p.S86F 0.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 50 0 0.00 26 36 58.06 - - - DNAH5 0 genome.wustl.edu 37 5 13708288 13708288 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 13708288 13708288 G A SNP DNAH5 ENST00000265104 human ensembl 69_37n -1 known silent c.13282 p.L4428 0.999 pfam_Dynein_heavy pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 61 0 0.00 57 17 22.97 - - - DNAH8 0 genome.wustl.edu 37 6 38835879 38835879 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 38835879 38835879 G C SNP DNAH8 ENST00000359357 human ensembl 69_37n +1 known missense c.6084 p.L2028F 0.970 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 86 0 0.00 85 22 20.37 - - - DNAH9 0 genome.wustl.edu 37 17 11511580 11511580 + Silent SNP T T G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 11511580 11511580 T G SNP DNAH9 ENST00000262442 human ensembl 69_37n +1 known silent c.552 p.T184 0.006 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 11 0 0.00 20 5 20.00 - - - DOCK10 0 genome.wustl.edu 37 2 225738737 225738737 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 225738737 225738737 C G SNP DOCK10 ENST00000258390 human ensembl 69_37n -1 known missense c.1233 p.E411D 1.000 NULL pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 80 0 0.00 107 51 32.08 - - - DOCK2 0 genome.wustl.edu 37 5 169423141 169423141 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 169423141 169423141 C G SNP DOCK2 ENST00000256935 human ensembl 69_37n +1 known missense c.3045 p.F1015L 0.941 superfamily_ARM-type_fold,superfamily_Ferritin/RR-like 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 40 0 0.00 29 21 42.00 - - - DPP4 0 genome.wustl.edu 37 2 162879266 162879266 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 162879266 162879266 C T SNP DPP4 ENST00000360534 human ensembl 69_37n -1 known missense c.1067 p.R356K 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP4 HGNC ENSG00000197635 82 0 0.00 78 53 40.15 - - - DPYSL2 0 genome.wustl.edu 37 8 26441384 26441384 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 8 26441384 26441384 C G SNP DPYSL2 ENST00000311151 human ensembl 69_37n +1 known missense c.198 p.I66M 0.891 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL2 HGNC ENSG00000092964 37 0 0.00 39 7 14.89 - - - DSCAML1 0 genome.wustl.edu 37 11 117307850 117307850 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 11 117307850 117307850 C T SNP DSCAML1 ENST00000321322 human ensembl 69_37n -1 known missense c.4888 p.D1630N 1.000 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAML1 HGNC ENSG00000177103 26 0 0.00 5 14 73.68 - - - DSP 0 genome.wustl.edu 37 6 7580286 7580286 + Missense_Mutation SNP A A C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 7580286 7580286 A C SNP DSP ENST00000379802 human ensembl 69_37n +1 known missense c.3863 p.K1288T 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 10 0 0.00 11 7 38.89 - - - DSP 0 genome.wustl.edu 37 6 7583116 7583116 + Missense_Mutation SNP A A C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 7583116 7583116 A C SNP DSP ENST00000379802 human ensembl 69_37n +1 known missense c.5621 p.K1874T 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 36 0 0.00 38 9 19.15 - - - DSP 0 genome.wustl.edu 37 6 7585120 7585120 + Missense_Mutation SNP A A T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 7585120 7585120 A T SNP DSP ENST00000379802 human ensembl 69_37n +1 known missense c.7625 p.K2542M 1.000 smart_Plectin_repeat pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 33 0 0.00 37 9 19.15 - - - DST 0 genome.wustl.edu 37 6 56335971 56335971 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 56335971 56335971 C G SNP DST ENST00000370754 human ensembl 69_37n -1 known missense c.22161 p.R7387S 1.000 superfamily_ABC_transptrTM_dom_typ1,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 45 0 0.00 59 18 23.38 - - - DST 0 genome.wustl.edu 37 6 56504379 56504379 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 56504379 56504379 C T SNP DST ENST00000370754 human ensembl 69_37n -1 known missense c.2629 p.D877N 1.000 superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 48 0 0.00 39 11 22.00 - - - DYX1C1 0 genome.wustl.edu 37 15 55727116 55727116 + Missense_Mutation SNP T T C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 15 55727116 55727116 T C SNP DYX1C1 ENST00000321149 human ensembl 69_37n -1 known missense c.1034 p.E345G 1.000 pfam_TPR-1,smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_CS_domain,superfamily_HSP20-like_chaperone,smart_TPR_repeat,pfscan_CS-like_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors DYX1C1 HGNC ENSG00000256061 70 0 0.00 102 58 36.25 - - - E2F4 0 genome.wustl.edu 37 16 67228646 67228646 + Nonsense_Mutation SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 16 67228646 67228646 G T SNP E2F4 ENST00000379378 human ensembl 69_37n +1 known nonsense c.571 p.E191* 0.993 NULL pfam_E2F_TDP - no_errors E2F4 HGNC ENSG00000205250 44 0 0.00 28 14 33.33 - - - EDEM3 0 genome.wustl.edu 37 1 184680990 184680990 + Missense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 184680990 184680990 C A SNP EDEM3 ENST00000318130 human ensembl 69_37n -1 known missense c.1558 p.D520Y 1.000 NULL pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM3 HGNC ENSG00000116406 40 0 0.00 67 26 27.96 - - - EEA1 0 genome.wustl.edu 37 12 93221811 93221812 + Frame_Shift_Del DEL CT CT - TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 93221811 93221812 CT - DEL EEA1 ENST00000322349 human ensembl 69_37n -1 known frame_shift_del c.1281_1280 p.E427fs 0.998:1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors EEA1 HGNC ENSG00000102189 50 0 0.00 46 12 20.69 - - - EIF2AK4 0 genome.wustl.edu 37 15 40235627 40235627 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 15 40235627 40235627 G A SNP EIF2AK4 ENST00000263791 human ensembl 69_37n +1 known missense c.301 p.E101K 1.000 pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_cat_dom - no_errors EIF2AK4 HGNC ENSG00000128829 48 0 0.00 47 16 25.40 - - - EIF2B4 0 genome.wustl.edu 37 2 27591902 27591902 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 27591902 27591902 C G SNP EIF2B4 ENST00000347454 human ensembl 69_37n -1 known missense c.389 p.S130T 0.961 NULL pfam_IF-2B-related - no_errors EIF2B4 HGNC ENSG00000115211 29 0 0.00 50 13 20.63 - - - EIF2D 0 genome.wustl.edu 37 1 206784716 206784716 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 206784716 206784716 C T SNP EIF2D ENST00000271764 human ensembl 69_37n -1 known missense c.68 p.R23Q 0.995 NULL pfam_TIF_SUI1,superfamily_TIF_SUI1,superfamily_SWIB_MDM2_domain,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,pfscan_TIF_SUI1 - no_errors EIF2D HGNC ENSG00000143486 38 0 0.00 83 16 16.16 - - - EIF4A2 0 genome.wustl.edu 37 3 186506999 186506999 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 186506999 186506999 G A SNP EIF4A2 ENST00000440191 human ensembl 69_37n +1 known missense c.1168 p.E390K 1.000 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors EIF4A2 HGNC ENSG00000156976 44 0 0.00 73 32 30.19 - - - EIF5B 0 genome.wustl.edu 37 2 99998687 99998687 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 99998687 99998687 C T SNP EIF5B ENST00000289371 human ensembl 69_37n +1 known silent c.2127 p.F709 1.000 pfam_ProtSyn_GTP-bd,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom pfam_ProtSyn_GTP-bd,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_TIF_IF2_dom3,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 77 0 0.00 115 59 33.91 - - - ELK1 0 genome.wustl.edu 37 X 47498367 47498367 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 47498367 47498367 G A SNP ELK1 ENST00000247161 human ensembl 69_37n -1 known missense c.581 p.S194L 0.483 NULL pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ELK1 HGNC ENSG00000126767 15 0 0.00 15 6 28.57 - - - ELMO1 0 genome.wustl.edu 37 7 37262231 37262231 + Nonsense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 37262231 37262231 C A SNP ELMO1 ENST00000310758 human ensembl 69_37n -1 known nonsense c.769 p.E257* 1.000 pfam_DUF3361,superfamily_ARM-type_fold pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 35 0 0.00 41 15 26.79 - - - EML5 0 genome.wustl.edu 37 14 89085011 89085011 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 14 89085011 89085011 C G SNP EML5 ENST00000554922 human ensembl 69_37n -1 known missense c.5521 p.D1841H 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML5 HGNC ENSG00000165521 34 0 0.00 21 29 58.00 - - - ENDOV 0 genome.wustl.edu 37 17 78397370 78397370 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 78397370 78397370 G C SNP ENDOV ENST00000518137 human ensembl 69_37n +1 known missense c.454 p.G152R 1.000 pfam_Endonuclease-V pfam_Endonuclease-V - no_errors ENDOV HGNC ENSG00000173818 38 0 0.00 16 8 33.33 - - - ENGASE 0 genome.wustl.edu 37 17 77076351 77076351 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 77076351 77076351 G C SNP ENGASE ENST00000579016 human ensembl 69_37n +1 known missense c.628 p.E210Q 0.336 pfam_Glyco_hydro_85 pfam_Glyco_hydro_85,pfscan_BRCT_dom - no_errors ENGASE HGNC ENSG00000167280 23 0 0.00 28 7 20.00 - - - ENPEP 0 genome.wustl.edu 37 4 111441503 111441503 + Nonsense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 4 111441503 111441503 C A SNP ENPEP ENST00000509344 human ensembl 69_37n +1 known nonsense c.326 p.S109* 0.528 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ENPEP HGNC ENSG00000138792 32 0 0.00 37 20 35.09 - - - ENPEP 0 genome.wustl.edu 37 4 111470981 111470981 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 4 111470981 111470981 C G SNP ENPEP ENST00000265162 human ensembl 69_37n +1 known missense c.2440 p.Q814E 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 54 0 0.00 38 35 47.95 - - - EP400 0 genome.wustl.edu 37 12 132516515 132516515 + Missense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 132516515 132516515 C A SNP EP400 ENST00000333577 human ensembl 69_37n +1 known missense c.5880 p.F1960L 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 43 0 0.00 47 17 26.15 - - - EPB41L2 0 genome.wustl.edu 37 6 131184837 131184837 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 131184837 131184837 C T SNP EPB41L2 ENST00000337057 human ensembl 69_37n -1 known missense c.2851 p.E951K 1.000 pirsf_Band_41_protein,pfam_Band_4.1_C 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,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain - no_errors EPB41L2 HGNC ENSG00000079819 93 0 0.00 69 23 24.47 - - - EPHB4 0 genome.wustl.edu 37 7 100420101 100420101 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 100420101 100420101 C T SNP EPHB4 ENST00000358173 human ensembl 69_37n -1 known silent c.600 p.L200 0.482 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHB4 HGNC ENSG00000196411 13 0 0.00 20 7 25.93 - - - EPS8 0 genome.wustl.edu 37 12 15822677 15822677 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 15822677 15822677 G C SNP EPS8 ENST00000281172 human ensembl 69_37n -1 known missense c.287 p.A96G 1.000 pfam_PTB,smart_PTyr_interaction_dom pfam_PTB,pfam_SH3_domain,pfam_PTyr_interaction_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8 HGNC ENSG00000151491 51 0 0.00 36 12 25.00 - - - ERCC4 0 genome.wustl.edu 37 16 14026115 14026115 + Nonsense_Mutation SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 16 14026115 14026115 G T SNP ERCC4 ENST00000311895 human ensembl 69_37n +1 known nonsense c.1075 p.E359* 1.000 tigrfam_Rad1 pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1 - no_errors ERCC4 HGNC ENSG00000175595 47 0 0.00 68 17 19.77 - - - ESRP1 0 genome.wustl.edu 37 8 95654199 95654199 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 8 95654199 95654199 G A SNP ESRP1 ENST00000433389 human ensembl 69_37n +1 known missense c.148 p.E50K 1.000 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 23 0 0.00 9 9 50.00 - - - ETAA1 0 genome.wustl.edu 37 2 67624583 67624583 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 67624583 67624583 G C SNP ETAA1 ENST00000272342 human ensembl 69_37n +1 known missense c.3 p.M1I 1.000 NULL NULL - no_errors ETAA1 HGNC ENSG00000143971 9 0 0.00 14 12 46.15 - - - ETAA1 0 genome.wustl.edu 37 2 67630796 67630796 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 67630796 67630796 G A SNP ETAA1 ENST00000272342 human ensembl 69_37n +1 known missense c.982 p.E328K 0.158 NULL NULL - no_errors ETAA1 HGNC ENSG00000143971 23 0 0.00 29 23 43.40 - - - EYS 0 genome.wustl.edu 37 6 64431491 64431491 + Missense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 64431491 64431491 C A SNP EYS ENST00000370616 human ensembl 69_37n -1 known missense c.8499 p.M2833I 0.998 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 90 0 0.00 92 23 20.00 - - - FAM114A2 0 genome.wustl.edu 37 5 153409079 153409079 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 153409079 153409079 G C SNP FAM114A2 ENST00000351797 human ensembl 69_37n -1 known missense c.465 p.F155L 0.997 pfam_DUF719 pfam_DUF719 - no_errors FAM114A2 HGNC ENSG00000055147 44 0 0.00 42 8 16.00 - - - FAM123B 0 genome.wustl.edu 37 X 63412320 63412320 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 63412320 63412320 C G SNP FAM123B ENST00000330258 human ensembl 69_37n -1 known missense c.847 p.E283Q 0.139 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors FAM123B HGNC ENSG00000184675 32 0 0.00 36 16 30.77 - - - FAM171B 0 genome.wustl.edu 37 2 187626849 187626849 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 187626849 187626849 C T SNP FAM171B ENST00000304698 human ensembl 69_37n +1 known missense c.1780 p.H594Y 0.991 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171B HGNC ENSG00000144369 20 0 0.00 34 19 35.85 - - - FAM173B 0 genome.wustl.edu 37 5 10236621 10236621 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 10236621 10236621 G A SNP FAM173B ENST00000511437 human ensembl 69_37n -1 known missense c.413 p.S138F 0.002 NULL NULL - no_errors FAM173B HGNC ENSG00000150756 24 0 0.00 36 22 37.93 - - - FAM189A2 0 genome.wustl.edu 37 9 71990715 71990715 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 9 71990715 71990715 G C SNP FAM189A2 ENST00000257515 human ensembl 69_37n +1 known missense c.187 p.D63H 1.000 pfam_CD20-like pfam_CD20-like - no_errors FAM189A2 HGNC ENSG00000135063 67 0 0.00 70 11 13.58 - - - FAM49B 0 genome.wustl.edu 37 8 130861491 130861491 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 8 130861491 130861491 C T SNP FAM49B ENST00000401979 human ensembl 69_37n -1 known missense c.838 p.D280N 1.000 pfam_DUF1394 pfam_DUF1394 - no_errors FAM49B HGNC ENSG00000153310 33 0 0.00 34 15 30.61 - - - FAM72A 0 genome.wustl.edu 37 1 206154007 206154007 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 206154007 206154007 G A SNP FAM72A ENST00000367128 human ensembl 69_37n +1 known missense c.406 p.D136N 1.000 NULL NULL - no_errors FAM72A HGNC ENSG00000196550 88 0 0.00 256 82 24.12 - - - FAM9A 0 genome.wustl.edu 37 X 8763373 8763373 + Nonsense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 8763373 8763373 C A SNP FAM9A ENST00000381003 human ensembl 69_37n -1 known nonsense c.577 p.E193* 0.005 NULL NULL - no_errors FAM9A HGNC ENSG00000183304 95 0 0.00 60 37 37.76 - - - FANCA 0 genome.wustl.edu 37 16 89838157 89838157 + Missense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 16 89838157 89838157 C A SNP FANCA ENST00000389301 human ensembl 69_37n -1 known missense c.2080 p.D694Y 0.001 NULL pfam_Fanconia,prints_Fanconia - no_errors FANCA HGNC ENSG00000187741 67 0 0.00 90 15 14.29 - - - FARP1 0 genome.wustl.edu 37 13 99093081 99093081 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 13 99093081 99093081 C T SNP FARP1 ENST00000376586 human ensembl 69_37n +1 known silent c.2880 p.I960 0.408 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FARP1 HGNC ENSG00000152767 15 0 0.00 36 10 21.74 - - - FARP2 0 genome.wustl.edu 37 2 242352742 242352742 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 242352742 242352742 G A SNP FARP2 ENST00000264042 human ensembl 69_37n +1 known missense c.529 p.E177K 0.996 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FARP2 HGNC ENSG00000006607 36 0 0.00 37 19 33.93 - - - FASN 0 genome.wustl.edu 37 17 80051192 80051192 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 80051192 80051192 C T SNP FASN ENST00000306749 human ensembl 69_37n -1 known silent c.558 p.G186 0.007 pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 18 0 0.00 27 6 18.18 - - - FAT1 0 genome.wustl.edu 37 4 187540106 187540106 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 4 187540106 187540106 C T SNP FAT1 ENST00000441802 human ensembl 69_37n -1 known missense c.7634 p.R2545K 0.971 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 44 0 0.00 27 16 37.21 - - - FAT2 0 genome.wustl.edu 37 5 150901470 150901470 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 150901470 150901470 C G SNP FAT2 ENST00000261800 human ensembl 69_37n -1 known missense c.10684 p.D3562H 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 24 0 0.00 24 7 22.58 - - - FBF1 0 genome.wustl.edu 37 17 73922234 73922234 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 73922234 73922234 G A SNP FBF1 ENST00000389570 human ensembl 69_37n -1 known missense c.703 p.R235C 1.000 NULL superfamily_HRDC-like - no_errors FBF1 HGNC ENSG00000188878 11 0 0.00 14 5 26.32 - - - FBN2 0 genome.wustl.edu 37 5 127610376 127610376 + Splice_Site SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 127610376 127610376 C G SNP FBN2 ENST00000262464 human ensembl 69_37n -1 known splice_site c.7595-1 e60-1 1.000 - - - no_errors FBN2 HGNC ENSG00000138829 28 0 0.00 38 7 15.56 - - - FBXL13 0 genome.wustl.edu 37 7 102572360 102572360 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 102572360 102572360 C G SNP FBXL13 ENST00000313221 human ensembl 69_37n -1 known missense c.745 p.E249Q 1.000 smart_Leu-rich_rpt_Cys-con_subtyp smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL13 HGNC ENSG00000161040 50 0 0.00 61 24 27.91 - - - FER1L6 0 genome.wustl.edu 37 8 125076647 125076647 + Missense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 8 125076647 125076647 C A SNP FER1L6 ENST00000399018 human ensembl 69_37n +1 known missense c.3388 p.P1130T 0.004 NULL pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors FER1L6 HGNC ENSG00000214814 38 0 0.00 38 8 17.39 - - - FGD5 0 genome.wustl.edu 37 3 14939068 14939068 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 14939068 14939068 G A SNP FGD5 ENST00000285046 human ensembl 69_37n +1 known missense c.2801 p.R934K 0.007 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 53 0 0.00 35 42 53.85 - - - FILIP1 0 genome.wustl.edu 37 6 76023499 76023499 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 76023499 76023499 C T SNP FILIP1 ENST00000237172 human ensembl 69_37n -1 known silent c.2049 p.E683 1.000 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 74 0 0.00 58 31 34.83 - - - FLNC 0 genome.wustl.edu 37 7 128477783 128477783 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 128477783 128477783 G A SNP FLNC ENST00000325888 human ensembl 69_37n +1 known missense c.943 p.E315K 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 10 0 0.00 11 5 31.25 - - - FMNL2 0 genome.wustl.edu 37 2 153473673 153473673 + Silent SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 153473673 153473673 C G SNP FMNL2 ENST00000288670 human ensembl 69_37n +1 known silent c.1281 p.L427 0.998 pfam_Drf_FH3,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg,prints_Wilms_tumour - no_errors FMNL2 HGNC ENSG00000157827 41 0 0.00 53 34 39.08 - - - FN3KRP 0 genome.wustl.edu 37 17 80680683 80680683 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 80680683 80680683 G A SNP FN3KRP ENST00000269373 human ensembl 69_37n +1 known missense c.389 p.R130K 0.990 pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase - no_errors FN3KRP HGNC ENSG00000141560 85 0 0.00 91 36 28.35 - - - FNBP1L 0 genome.wustl.edu 37 1 93998592 93998592 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 93998592 93998592 G C SNP FNBP1L ENST00000271234 human ensembl 69_37n +1 known missense c.753 p.M251I 1.000 NULL pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain - no_errors FNBP1L HGNC ENSG00000137942 19 0 0.00 25 11 30.56 - - - FOXO4 0 genome.wustl.edu 37 X 70316624 70316624 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 70316624 70316624 C T SNP FOXO4 ENST00000374259 human ensembl 69_37n +1 known silent c.246 p.P82 0.450 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO4 HGNC ENSG00000184481 18 0 0.00 19 15 44.12 - - - FPGT-TNNI3K 0 genome.wustl.edu 37 1 74665373 74665373 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 74665373 74665373 C T SNP FPGT-TNNI3K ENST00000370891 human ensembl 69_37n +1 known silent c.108 p.F36 1.000 NULL pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FPGT-TNNI3K HGNC ENSG00000116783 45 0 0.00 80 35 30.43 - - - FREM1 0 genome.wustl.edu 37 9 14868860 14868860 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 9 14868860 14868860 G C SNP FREM1 ENST00000380881 human ensembl 69_37n -1 known missense c.116 p.S39C 0.992 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 22 0 0.00 19 13 40.62 - - - FRYL 0 genome.wustl.edu 37 4 48636338 48636338 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 4 48636338 48636338 C G SNP FRYL ENST00000358350 human ensembl 69_37n -1 known missense c.90 p.K30N 1.000 NULL superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 84 0 0.00 78 46 37.10 - - - FSD1L 0 genome.wustl.edu 37 9 108297397 108297397 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 9 108297397 108297397 G C SNP FSD1L ENST00000539376 human ensembl 69_37n +1 known missense c.735 p.Q245H 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin - no_errors FSD1L HGNC ENSG00000106701 29 0 0.00 42 23 34.85 - - - FUK 0 genome.wustl.edu 37 16 70506491 70506491 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 16 70506491 70506491 C T SNP FUK ENST00000378912 human ensembl 69_37n +1 known silent c.1485 p.F495 1.000 pfam_Fucokinase pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase - no_errors FUK HGNC ENSG00000157353 27 0 0.00 34 8 18.18 - - - GABBR2 0 genome.wustl.edu 37 9 101065570 101065570 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 9 101065570 101065570 C G SNP GABBR2 ENST00000259455 human ensembl 69_37n -1 known missense c.2365 p.E789Q 1.000 prints_GPCR_3_GABA_rcpt_B2 pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C - no_errors GABBR2 HGNC ENSG00000136928 90 0 0.00 104 38 26.76 - - - GABRA2 0 genome.wustl.edu 37 4 46264068 46264068 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 4 46264068 46264068 C T SNP GABRA2 ENST00000540012 human ensembl 69_37n -1 known missense c.769 p.A257T 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA2 HGNC ENSG00000151834 48 0 0.00 68 11 13.92 - - - GALNT5 0 genome.wustl.edu 37 2 158114646 158114646 + Missense_Mutation SNP A A C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 158114646 158114646 A C SNP GALNT5 ENST00000259056 human ensembl 69_37n +1 known missense c.52 p.I18L 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT5 HGNC ENSG00000136542 57 0 0.00 50 20 28.57 - - - GART 0 genome.wustl.edu 37 21 34897181 34897181 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 21 34897181 34897181 G A SNP GART ENST00000381815 human ensembl 69_37n -1 known missense c.1193 p.S398L 0.004 pfam_PRibGlycinamide_synth_C-dom,superfamily_Rudment_hybrid_motif,tigrfam_PRibGlycinamide_synth pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C,superfamily_PurM_N-like,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans - no_errors GART HGNC ENSG00000159131 42 0 0.00 58 45 43.69 - - - GCC2 0 genome.wustl.edu 37 2 109086943 109086943 + Missense_Mutation SNP A A T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 109086943 109086943 A T SNP GCC2 ENST00000309863 human ensembl 69_37n +1 known missense c.1158 p.K386N 1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 22 0 0.00 19 11 36.67 - - - GFI1 0 genome.wustl.edu 37 1 92948572 92948572 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 92948572 92948572 C T SNP GFI1 ENST00000294702 human ensembl 69_37n -1 known silent c.147 p.A49 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GFI1 HGNC ENSG00000162676 26 0 0.00 18 6 25.00 - - - GFPT2 0 genome.wustl.edu 37 5 179755315 179755315 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 179755315 179755315 G A SNP GFPT2 ENST00000253778 human ensembl 69_37n -1 known silent c.558 p.F186 1.000 pfam_GATase_dom pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC ENSG00000131459 57 0 0.00 68 15 17.86 - - - GINS2 0 genome.wustl.edu 37 16 85715277 85715277 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 16 85715277 85715277 C T SNP GINS2 ENST00000253462 human ensembl 69_37n -1 known silent c.216 p.E72 1.000 pfam_GINS_complex,pirsf_GINS_Psf2_subgr pfam_GINS_complex,pirsf_GINS_Psf2_subgr - no_errors GINS2 HGNC ENSG00000131153 92 0 0.00 79 20 20.00 - - - GJD2 0 genome.wustl.edu 37 15 35044878 35044878 + Missense_Mutation SNP A A G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 15 35044878 35044878 A G SNP GJD2 ENST00000290374 human ensembl 69_37n -1 known missense c.767 p.F256S 1.000 pfam_Connexin_CCC,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin36 - no_errors GJD2 HGNC ENSG00000159248 56 0 0.00 50 11 18.03 - - - GMNN 0 genome.wustl.edu 37 6 24785964 24785965 + Frame_Shift_Del DEL AG AG - TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 24785964 24785965 AG - DEL GMNN ENST00000230056 human ensembl 69_37n +1 known frame_shift_del c.567_568 p.E190fs 0.088:0.092 pfam_Geminin_fam pfam_Geminin_fam - no_errors GMNN HGNC ENSG00000112312 38 0 0.00 43 7 14.00 - - - GOLGB1 0 genome.wustl.edu 37 3 121413701 121413701 + Missense_Mutation SNP T T G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 121413701 121413701 T G SNP GOLGB1 ENST00000340645 human ensembl 69_37n -1 known missense c.5654 p.K1885T 0.052 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 48 0 0.00 39 26 40.00 - - - GOLIM4 0 genome.wustl.edu 37 3 167728605 167728605 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 167728605 167728605 C G SNP GOLIM4 ENST00000470487 human ensembl 69_37n -1 known missense c.1867 p.E623Q 1.000 NULL NULL - no_errors GOLIM4 HGNC ENSG00000173905 48 0 0.00 78 50 39.06 - - - GOLIM4 0 genome.wustl.edu 37 3 167759237 167759237 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 167759237 167759237 C G SNP GOLIM4 ENST00000470487 human ensembl 69_37n -1 known missense c.543 p.E181D 1.000 NULL NULL - no_errors GOLIM4 HGNC ENSG00000173905 108 0 0.00 208 63 23.25 - - - GPI 0 genome.wustl.edu 37 19 34890129 34890129 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 19 34890129 34890129 C G SNP GPI ENST00000415930 human ensembl 69_37n +1 known missense c.1320 p.F440L 1.000 pfam_G6P_Isomerase pfam_G6P_Isomerase,prints_G6P_Isomerase - no_errors GPI HGNC ENSG00000105220 16 0 0.00 15 8 34.78 - - - GPR116 0 genome.wustl.edu 37 6 46839704 46839704 + Silent SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 46839704 46839704 G T SNP GPR116 ENST00000265417 human ensembl 69_37n -1 known silent c.1287 p.L429 0.124 pfscan_Ig-like,prints_GPCR_2_Ig-hepta_rcpt pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like - no_errors GPR116 HGNC ENSG00000069122 52 0 0.00 54 23 29.87 - - - GPR157 0 genome.wustl.edu 37 1 9171339 9171339 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 9171339 9171339 C T SNP GPR157 ENST00000377411 human ensembl 69_37n -1 known missense c.593 p.R198K 0.948 pfam_GPCR_2_secretin-like,pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_7TM_GPCR_Rhodpsn,pfam_Frizzled,pfscan_GPCR_Rhodpsn_supfam,pfscan_GPCR_2-like,prints_GCR1-cAMP_receptor - no_errors GPR157 HGNC ENSG00000180758 27 0 0.00 35 6 14.29 - - - GPX3 0 genome.wustl.edu 37 5 150406533 150406533 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 150406533 150406533 G A SNP GPX3 ENST00000388825 human ensembl 69_37n +1 known missense c.314 p.G105E 1.000 pfam_Glutathione_peroxidase,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase pfam_Glutathione_peroxidase,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase - pseudogene GPX3 HGNC ENSG00000211445 47 0 0.00 51 10 16.39 - - - GRIA3 0 genome.wustl.edu 37 X 122598859 122598859 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 122598859 122598859 G A SNP GRIA3 ENST00000264357 human ensembl 69_37n +1 known missense c.2220 p.M740I 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA3 HGNC ENSG00000125675 50 0 0.00 54 23 29.49 - - - GRIN1 0 genome.wustl.edu 37 9 140056490 140056490 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 9 140056490 140056490 G A SNP GRIN1 ENST00000371561 human ensembl 69_37n +1 known missense c.1582 p.E528K 1.000 pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_CaM-bd_C0_NMDA_rcpt_NR1,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN1 HGNC ENSG00000176884 22 0 0.00 18 7 28.00 - - - HCFC2 0 genome.wustl.edu 37 12 104487278 104487278 + Missense_Mutation SNP T T A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 104487278 104487278 T A SNP HCFC2 ENST00000229330 human ensembl 69_37n +1 known missense c.1399 p.S467T 0.002 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors HCFC2 HGNC ENSG00000111727 47 0 0.00 46 17 26.98 - - - HDLBP 0 genome.wustl.edu 37 2 242179340 242179340 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 242179340 242179340 C G SNP HDLBP ENST00000310931 human ensembl 69_37n -1 known missense c.2367 p.E789D 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 63 0 0.00 84 21 20.00 - - - HEATR7B2 0 genome.wustl.edu 37 5 41018851 41018851 + Missense_Mutation SNP A A C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 41018851 41018851 A C SNP HEATR7B2 ENST00000399564 human ensembl 69_37n -1 known missense c.2615 p.L872R 0.575 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC ENSG00000171495 57 0 0.00 77 15 16.30 - - - HECTD1 0 genome.wustl.edu 37 14 31642457 31642457 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 14 31642457 31642457 C T SNP HECTD1 ENST00000399332 human ensembl 69_37n -1 known missense c.1061 p.R354K 1.000 superfamily_ARM-type_fold pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC ENSG00000092148 43 0 0.00 35 29 45.31 - - - HELB 0 genome.wustl.edu 37 12 66703995 66703995 + Nonsense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 66703995 66703995 G A SNP HELB ENST00000247815 human ensembl 69_37n +1 known nonsense c.1287 p.W429* 0.000 NULL NULL - no_errors HELB HGNC ENSG00000127311 34 0 0.00 39 13 25.00 - - - HELQ 0 genome.wustl.edu 37 4 84368172 84368172 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 4 84368172 84368172 C G SNP HELQ ENST00000295488 human ensembl 69_37n -1 known missense c.1208 p.S403T 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELQ HGNC ENSG00000163312 27 0 0.00 20 22 52.38 - - - HERC6 0 genome.wustl.edu 37 4 89329723 89329723 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 4 89329723 89329723 G A SNP HERC6 ENST00000264346 human ensembl 69_37n +1 known missense c.1322 p.R441K 0.999 NULL pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC6 HGNC ENSG00000138642 74 0 0.00 43 18 29.03 - - - HIP1 0 genome.wustl.edu 37 7 75192345 75192345 + Nonsense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 75192345 75192345 G C SNP HIP1 ENST00000336926 human ensembl 69_37n -1 known nonsense c.914 p.S305* 1.000 pfam_ANTH pfam_ANTH,pfam_ILWEQ,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ,pfscan_Epsin-like_N,pfscan_ILWEQ - no_errors HIP1 HGNC ENSG00000127946 48 0 0.00 45 28 38.36 - - - HIST1H2AA 0 genome.wustl.edu 37 6 25726392 25726392 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 25726392 25726392 C G SNP HIST1H2AA ENST00000297012 human ensembl 69_37n -1 known missense c.364 p.E122Q 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AA HGNC ENSG00000164508 160 0 0.00 200 57 22.18 - - - HMGCS1 0 genome.wustl.edu 37 5 43298179 43298179 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 43298179 43298179 C G SNP HMGCS1 ENST00000325110 human ensembl 69_37n -1 known missense c.506 p.R169T 1.000 pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk pfam_HMG_CoA_synt_C,pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk - no_errors HMGCS1 HGNC ENSG00000112972 37 0 0.00 60 7 10.45 - - - HNRNPL 0 genome.wustl.edu 37 19 39334666 39334666 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 19 39334666 39334666 C T SNP HNRNPL ENST00000221419 human ensembl 69_37n -1 known silent c.789 p.L263 1.000 smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRNPL HGNC ENSG00000104824 47 0 0.00 54 11 16.92 - - - HOOK3 0 genome.wustl.edu 37 8 42823256 42823256 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 8 42823256 42823256 G C SNP HOOK3 ENST00000307602 human ensembl 69_37n +1 known missense c.1021 p.E341Q 1.000 pfam_HOOK pfam_HOOK,superfamily_t-SNARE - no_errors HOOK3 HGNC ENSG00000168172 32 0 0.00 42 19 31.15 - - - HOXD3 0 genome.wustl.edu 37 2 177033861 177033861 + Nonsense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 177033861 177033861 C T SNP HOXD3 ENST00000249440 human ensembl 69_37n +1 known nonsense c.19 p.Q7* 0.999 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXD3 HGNC ENSG00000128652 27 0 0.00 35 6 14.63 - - - HS6ST3 0 genome.wustl.edu 37 13 97485350 97485350 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 13 97485350 97485350 G A SNP HS6ST3 ENST00000376705 human ensembl 69_37n +1 known silent c.1314 p.R438 0.977 NULL pfam_Sulfotransferase - no_errors HS6ST3 HGNC ENSG00000185352 36 0 0.00 24 11 31.43 - - - HTRA2 0 genome.wustl.edu 37 2 74758059 74758059 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 74758059 74758059 C T SNP HTRA2 ENST00000258080 human ensembl 69_37n +1 known silent c.733 p.L245 0.994 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like pfam_Peptidase_S1_S6,pfam_PDZ,superfamily_Pept_cys/ser_Trypsin-like,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA2 HGNC ENSG00000115317 26 0 0.00 21 19 46.34 - - - IARS 0 genome.wustl.edu 37 9 95009730 95009730 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 9 95009730 95009730 C G SNP IARS ENST00000375643 human ensembl 69_37n -1 known missense c.2720 p.G907A 1.000 superfamily_tRNAsynth_1a_anticodon-bd pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-synt,tigrfam_Ile-tRNA-synt - no_errors IARS HGNC ENSG00000196305 42 0 0.00 75 20 20.83 - - - IFNA13 0 genome.wustl.edu 37 9 21367943 21367943 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 9 21367943 21367943 G C SNP IFNA13 ENST00000449498 human ensembl 69_37n -1 known missense c.67 p.L23V 0.035 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA13 HGNC ENSG00000233816 38 0 0.00 26 23 46.00 - - - IGHG1 0 genome.wustl.edu 37 14 106209379 106209379 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 14 106209379 106209379 G A SNP IGHG1 ENST00000390548 human ensembl 69_37n -1 known silent c.30 p.P10 0.167 pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like - no_start_codon IGHG1 HGNC ENSG00000211896 44 0 0.00 38 13 25.49 - - - IGHV3-64 0 genome.wustl.edu 37 14 107113972 107113972 + Silent SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 14 107113972 107113972 G T SNP IGHV3-64 ENST00000454421 human ensembl 69_37n -1 known silent c.123 p.S41 0.995 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV3-64 HGNC ENSG00000223648 82 0 0.00 90 18 16.51 - - - IKBKE 0 genome.wustl.edu 37 1 206658611 206658611 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 206658611 206658611 G A SNP IKBKE ENST00000367120 human ensembl 69_37n +1 known silent c.1584 p.V528 0.921 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 IKBKE HGNC ENSG00000143466 30 0 0.00 62 8 11.43 - - - IL17RD 0 genome.wustl.edu 37 3 57131939 57131939 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 57131939 57131939 C G SNP IL17RD ENST00000296318 human ensembl 69_37n -1 known missense c.1792 p.E598Q 0.676 NULL pfam_SEFIR,superfamily_TIR_dom - no_errors IL17RD HGNC ENSG00000144730 17 0 0.00 12 25 67.57 - - - IL17RD 0 genome.wustl.edu 37 3 57135219 57135219 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 57135219 57135219 G C SNP IL17RD ENST00000296318 human ensembl 69_37n -1 known missense c.1152 p.F384L 1.000 pfam_SEFIR,superfamily_TIR_dom pfam_SEFIR,superfamily_TIR_dom - no_errors IL17RD HGNC ENSG00000144730 30 0 0.00 15 17 53.12 - - - IMPA2 0 genome.wustl.edu 37 18 12030413 12030413 + Nonsense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 18 12030413 12030413 C T SNP IMPA2 ENST00000269159 human ensembl 69_37n +1 known nonsense c.823 p.Q275* 1.000 pfam_Inositol_monophosphatase,prints_Inositol_monoPase_Li-sen pfam_Inositol_monophosphatase,prints_Inositol_monophosphatase,prints_Inositol_monoPase_Li-sen - no_errors IMPA2 HGNC ENSG00000141401 42 0 0.00 43 19 30.65 - - - IMPG2 0 genome.wustl.edu 37 3 100948257 100948257 + Missense_Mutation SNP T T A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 100948257 100948257 T A SNP IMPG2 ENST00000193391 human ensembl 69_37n -1 known missense c.3600 p.R1200S 0.996 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors IMPG2 HGNC ENSG00000081148 55 0 0.00 40 30 42.86 - - - ING2 0 genome.wustl.edu 37 4 184431864 184431864 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 4 184431864 184431864 C T SNP ING2 ENST00000302327 human ensembl 69_37n +1 known missense c.602 p.S201L 0.999 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING2 HGNC ENSG00000168556 47 0 0.00 38 14 26.92 - - - INPPL1 0 genome.wustl.edu 37 11 71940780 71940780 + Nonsense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 11 71940780 71940780 C G SNP INPPL1 ENST00000298229 human ensembl 69_37n +1 known nonsense c.827 p.S276* 1.000 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 32 0 0.00 16 11 40.74 - - - INTS8 0 genome.wustl.edu 37 8 95886801 95886803 + In_Frame_Del DEL TGT TGT - TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 8 95886801 95886803 TGT - DEL INTS8 ENST00000523731 human ensembl 69_37n +1 known in_frame_del c.2659_2661 p.C888in_frame_del 1.000:1.000:0.998 NULL NULL - no_errors INTS8 HGNC ENSG00000164941 81 0 0.00 102 19 15.57 - - - IP6K1 0 genome.wustl.edu 37 3 49770247 49770247 + Missense_Mutation SNP T T C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 49770247 49770247 T C SNP IP6K1 ENST00000321599 human ensembl 69_37n -1 known missense c.593 p.E198G 1.000 NULL pfam_IPK - no_errors IP6K1 HGNC ENSG00000176095 17 0 0.00 31 16 34.04 - - - ITGAL 0 genome.wustl.edu 37 16 30485581 30485581 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 16 30485581 30485581 G A SNP ITGAL ENST00000356798 human ensembl 69_37n +1 known silent c.126 p.G42 1.000 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAL HGNC ENSG00000005844 22 0 0.00 12 17 58.62 - - - ITGB3BP 0 genome.wustl.edu 37 1 63944439 63944439 + Missense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 63944439 63944439 C A SNP ITGB3BP ENST00000371092 human ensembl 69_37n -1 known missense c.367 p.D123Y 0.996 pfam_NRIF3_coact_rcpt pfam_NRIF3_coact_rcpt - no_errors ITGB3BP HGNC ENSG00000142856 139 0 0.00 195 44 18.33 - - - ITPA 0 genome.wustl.edu 37 20 3202556 3202556 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 20 3202556 3202556 G A SNP ITPA ENST00000380113 human ensembl 69_37n +1 known missense c.481 p.E161K 0.964 pfam_Ham1p-like,tigrfam_Ham1p-like pfam_Ham1p-like,tigrfam_Ham1p-like - no_errors ITPA HGNC ENSG00000125877 42 0 0.00 50 10 16.67 - - - ITPR3 0 genome.wustl.edu 37 6 33647831 33647831 + Missense_Mutation SNP A A T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 33647831 33647831 A T SNP ITPR3 ENST00000374316 human ensembl 69_37n +1 known missense c.4145 p.Y1382F 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd - no_errors ITPR3 HGNC ENSG00000096433 15 0 0.00 16 6 27.27 - - - ITSN2 0 genome.wustl.edu 37 2 24535095 24535095 + Missense_Mutation SNP A A T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 24535095 24535095 A T SNP ITSN2 ENST00000355123 human ensembl 69_37n -1 known missense c.338 p.I113N 0.989 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 43 0 0.00 109 19 14.73 - - - JAK2 0 genome.wustl.edu 37 9 5044465 5044465 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 9 5044465 5044465 G C SNP JAK2 ENST00000381652 human ensembl 69_37n +1 known missense c.413 p.R138P 1.000 superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK2 HGNC ENSG00000096968 73 0 0.00 40 38 48.72 - - - JUN 0 genome.wustl.edu 37 1 59247812 59247813 + Frame_Shift_Del DEL TC TC - TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 59247812 59247813 TC - DEL JUN ENST00000371222 human ensembl 69_37n -1 known frame_shift_del c.931_930 p.K311fs 1.000:1.000 pfam_bZIP_1,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun pfam_JNK,pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUN HGNC ENSG00000177606 29 0 0.00 41 25 37.88 - - - KALRN 0 genome.wustl.edu 37 3 123946843 123946843 + Missense_Mutation SNP T T A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 123946843 123946843 T A SNP KALRN ENST00000360013 human ensembl 69_37n +1 known missense c.74 p.F25Y 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_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 130 0 0.00 108 67 38.29 - - - KALRN 0 genome.wustl.edu 37 3 124132497 124132497 + Nonsense_Mutation SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 124132497 124132497 G T SNP KALRN ENST00000360013 human ensembl 69_37n +1 known nonsense c.2521 p.E841* 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_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 35 0 0.00 18 30 62.50 - - - KANSL1 0 genome.wustl.edu 37 17 44249016 44249016 + Nonsense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 44249016 44249016 G C SNP KANSL1 ENST00000262419 human ensembl 69_37n -1 known nonsense c.494 p.S165* 1.000 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 26 0 0.00 18 11 37.93 - - - KANSL1 0 genome.wustl.edu 37 17 44249261 44249261 + Silent SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 44249261 44249261 G C SNP KANSL1 ENST00000262419 human ensembl 69_37n -1 known silent c.249 p.L83 0.997 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 31 0 0.00 36 23 38.98 - - - KANSL3 0 genome.wustl.edu 37 2 97274300 97274300 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 97274300 97274300 C T SNP KANSL3 ENST00000431828 human ensembl 69_37n -1 known silent c.1686 p.L562 1.000 NULL NULL - no_errors KANSL3 HGNC ENSG00000114982 87 0 0.00 123 85 40.67 - - - KCND2 0 genome.wustl.edu 37 7 119914821 119914821 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 119914821 119914821 G A SNP KCND2 ENST00000331113 human ensembl 69_37n +1 known silent c.135 p.L45 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 32 0 0.00 23 9 28.12 - - - KCNJ11 0 genome.wustl.edu 37 11 17409584 17409584 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 11 17409584 17409584 C G SNP KCNJ11 ENST00000339994 human ensembl 69_37n -1 known missense c.55 p.E19Q 1.000 pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir6.2 - no_errors KCNJ11 HGNC ENSG00000187486 19 0 0.00 8 14 63.64 - - - KCNQ3 0 genome.wustl.edu 37 8 133492505 133492505 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 8 133492505 133492505 G A SNP KCNQ3 ENST00000388996 human ensembl 69_37n -1 known missense c.275 p.P92L 0.999 prints_K_chnl_volt-dep_KCNQ3 pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 38 0 0.00 23 8 25.81 - - - KCNU1 0 genome.wustl.edu 37 8 36780092 36780092 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 8 36780092 36780092 C T SNP KCNU1 ENST00000399881 human ensembl 69_37n +1 known missense c.2681 p.A894V 0.993 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 75 0 0.00 124 18 12.68 - - - KDM4A 0 genome.wustl.edu 37 1 44156660 44156660 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 44156660 44156660 G C SNP KDM4A ENST00000372396 human ensembl 69_37n +1 known missense c.2182 p.E728Q 0.999 smart_Znf_PHD pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4A HGNC ENSG00000066135 34 0 0.00 57 13 18.57 - - - KDM5B 0 genome.wustl.edu 37 1 202718234 202718234 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 202718234 202718234 G A SNP KDM5B ENST00000367265 human ensembl 69_37n -1 known missense c.1855 p.R619C 0.997 smart_JmjC_dom,pfscan_JmjC_dom 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 KDM5B HGNC ENSG00000117139 34 0 0.00 67 31 31.63 - - - KIAA0195 0 genome.wustl.edu 37 17 73489641 73489641 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 73489641 73489641 G C SNP KIAA0195 ENST00000314256 human ensembl 69_37n +1 known missense c.2156 p.G719A 1.000 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 29 0 0.00 29 21 42.00 - - - KIAA0317 0 genome.wustl.edu 37 14 75130698 75130698 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 14 75130698 75130698 G A SNP KIAA0317 ENST00000356357 human ensembl 69_37n -1 known missense c.2273 p.S758F 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Filamin/ABP280_repeat-like,superfamily_HECT,superfamily_Ig_E-set,smart_HECT,pfscan_Filamin/ABP280_repeat-like,pfscan_HECT - no_errors KIAA0317 HGNC ENSG00000119682 52 0 0.00 26 25 49.02 - - - KIAA0556 0 genome.wustl.edu 37 16 27761291 27761291 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 16 27761291 27761291 G A SNP KIAA0556 ENST00000261588 human ensembl 69_37n +1 known missense c.3010 p.E1004K 0.819 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 13 0 0.00 8 17 68.00 - - - KIAA0930 0 genome.wustl.edu 37 22 45599780 45599780 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 22 45599780 45599780 G A SNP KIAA0930 ENST00000251993 human ensembl 69_37n -1 known silent c.618 p.V206 1.000 pfam_DUF2045 pfam_DUF2045 - no_errors KIAA0930 HGNC ENSG00000100364 44 0 0.00 24 7 22.58 - - - KIAA1033 0 genome.wustl.edu 37 12 105538125 105538125 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 105538125 105538125 C G SNP KIAA1033 ENST00000332180 human ensembl 69_37n +1 known missense c.2071 p.H691D 1.000 NULL NULL - no_errors KIAA1033 HGNC ENSG00000136051 44 0 0.00 68 14 17.07 - - - KIAA1430 0 genome.wustl.edu 37 4 186112073 186112074 + Frame_Shift_Del DEL GA GA - TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 4 186112073 186112074 GA - DEL KIAA1430 ENST00000296775 human ensembl 69_37n -1 known frame_shift_del c.278_277 p.S93fs 0.001:0.000 NULL NULL - no_errors KIAA1430 HGNC ENSG00000164323 84 0 0.00 99 20 16.67 - - - KIAA1755 0 genome.wustl.edu 37 20 36841549 36841549 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 20 36841549 36841549 C G SNP KIAA1755 ENST00000279024 human ensembl 69_37n -1 known missense c.3498 p.Q1166H 0.129 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 10 0 0.00 16 8 33.33 - - - KIAA2013 0 genome.wustl.edu 37 1 11982839 11982839 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 11982839 11982839 C T SNP KIAA2013 ENST00000376576 human ensembl 69_37n -1 known missense c.1741 p.E581K 1.000 pfam_DUF2152 pfam_DUF2152 - no_errors KIAA2013 HGNC ENSG00000116685 48 0 0.00 35 14 28.57 - - - KIF1B 0 genome.wustl.edu 37 1 10412788 10412788 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 10412788 10412788 C G SNP KIF1B ENST00000263934 human ensembl 69_37n +1 known missense c.3911 p.S1304C 1.000 pfam_Kinesin-like pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 76 0 0.00 53 49 48.04 - - - KIF27 0 genome.wustl.edu 37 9 86457233 86457233 + Missense_Mutation SNP T T G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 9 86457233 86457233 T G SNP KIF27 ENST00000297814 human ensembl 69_37n -1 known missense c.3640 p.K1214Q 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF27 HGNC ENSG00000165115 50 0 0.00 66 22 25.00 - - - KIF27 0 genome.wustl.edu 37 9 86485437 86485437 + Silent SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 9 86485437 86485437 G C SNP KIF27 ENST00000297814 human ensembl 69_37n -1 known silent c.2754 p.L918 0.995 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF27 HGNC ENSG00000165115 104 0 0.00 143 41 22.16 - - - KLHDC3 0 genome.wustl.edu 37 6 42985434 42985434 + Splice_Site SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 42985434 42985434 G C SNP KLHDC3 ENST00000326974 human ensembl 69_37n +1 known splice_site c.331+1 e2+1 1.000 - - - no_errors KLHDC3 HGNC ENSG00000124702 44 0 0.00 39 12 23.53 - - - KLHL31 0 genome.wustl.edu 37 6 53519444 53519444 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 53519444 53519444 C G SNP KLHL31 ENST00000370905 human ensembl 69_37n -1 known missense c.627 p.M209I 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_DUF1668_ORYSA,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL31 HGNC ENSG00000124743 52 0 0.00 51 23 31.08 - - - KPNB1 0 genome.wustl.edu 37 17 45734247 45734247 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 45734247 45734247 G A SNP KPNB1 ENST00000290158 human ensembl 69_37n +1 known missense c.304 p.E102K 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,pfam_Armadillo,superfamily_ARM-type_fold,smart_Importin-beta_N,smart_Armadillo,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors KPNB1 HGNC ENSG00000108424 68 0 0.00 89 22 19.64 - - - KRR1 0 genome.wustl.edu 37 12 75900637 75900637 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 75900637 75900637 C T SNP KRR1 ENST00000229214 human ensembl 69_37n -1 known silent c.318 p.K106 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom - no_errors KRR1 HGNC ENSG00000111615 51 0 0.00 51 18 26.09 - - - KRT121P 0 genome.wustl.edu 37 12 52646209 52646209 + RNA SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 52646209 52646209 G T SNP KRT121P ENST00000529785 human ensembl 69_37n -1 known rna NULL NULL 0.009 - - - no_errors KRT121P HGNC ENSG00000135477 25 0 0.00 16 15 48.39 - - - KRTAP20-1 0 genome.wustl.edu 37 21 31988928 31988928 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 21 31988928 31988928 C T SNP KRTAP20-1 ENST00000334664 human ensembl 69_37n +1 known missense c.155 p.S52L 0.038 NULL pfam_KRTAP - no_errors KRTAP20-1 HGNC ENSG00000244624 161 0 0.00 157 143 47.67 - - - KRTAP4-6 0 genome.wustl.edu 37 17 39296555 39296555 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 39296555 39296555 C T SNP KRTAP4-6 ENST00000345847 human ensembl 69_37n -1 known missense c.185 p.R62H 0.000 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-6 HGNC ENSG00000198090 63 0 0.00 45 10 18.18 - - - L1CAM 0 genome.wustl.edu 37 X 153128186 153128186 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 153128186 153128186 C T SNP L1CAM ENST00000543994 human ensembl 69_37n -1 known missense c.3712 p.E1238K 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors L1CAM HGNC ENSG00000198910 45 0 0.00 40 18 31.03 - - - LAMA4 0 genome.wustl.edu 37 6 112441587 112441587 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 112441587 112441587 G A SNP LAMA4 ENST00000230538 human ensembl 69_37n -1 known silent c.4564 p.L1522 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EGF-like,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 69 0 0.00 45 21 31.82 - - - LAMB4 0 genome.wustl.edu 37 7 107746285 107746285 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 107746285 107746285 C G SNP LAMB4 ENST00000205386 human ensembl 69_37n -1 known missense c.847 p.D283H 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 19 0 0.00 31 10 24.39 - - - LAMC2 0 genome.wustl.edu 37 1 183191238 183191238 + Missense_Mutation SNP A A G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 183191238 183191238 A G SNP LAMC2 ENST00000264144 human ensembl 69_37n +1 known missense c.655 p.K219E 1.000 superfamily_Growth_fac_rcpt,pfscan_Laminin_B_type_IV pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin - no_errors LAMC2 HGNC ENSG00000058085 58 0 0.00 108 20 15.50 - - - LAPTM4A 0 genome.wustl.edu 37 2 20234122 20234122 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 20234122 20234122 C T SNP LAPTM4A ENST00000175091 human ensembl 69_37n -1 known missense c.583 p.V195M 0.994 pfam_LAPTM4/5,tigrfam_LAPTM_4A/5 pfam_LAPTM4/5,tigrfam_LAPTM_4A/5 - no_errors LAPTM4A HGNC ENSG00000068697 25 0 0.00 42 21 33.33 - - - LCA5 0 genome.wustl.edu 37 6 80223093 80223093 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 80223093 80223093 C T SNP LCA5 ENST00000369846 human ensembl 69_37n -1 known missense c.556 p.E186K 1.000 NULL NULL - no_errors LCA5 HGNC ENSG00000135338 125 0 0.00 139 55 28.35 - - - LEPREL4 0 genome.wustl.edu 37 17 39959674 39959674 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 39959674 39959674 C G SNP LEPREL4 ENST00000355468 human ensembl 69_37n -1 known missense c.1156 p.E386Q 1.000 NULL NULL - no_errors LEPREL4 HGNC ENSG00000141696 43 0 0.00 37 18 32.14 - - - LILRB4 0 genome.wustl.edu 37 19 55176603 55176603 + Silent SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 19 55176603 55176603 C G SNP LILRB4 ENST00000270452 human ensembl 69_37n +1 known silent c.729 p.L243 0.003 NULL pfam_Immunoglobulin,pfscan_Ig-like - no_errors LILRB4 HGNC ENSG00000186818 33 0 0.00 19 9 32.14 - - - LRIG3 0 genome.wustl.edu 37 12 59271206 59271206 + Nonsense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 59271206 59271206 C A SNP LRIG3 ENST00000320743 human ensembl 69_37n -1 known nonsense c.2512 p.E838* 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIG3 HGNC ENSG00000139263 36 0 0.00 16 4 20.00 - - - LRP1 0 genome.wustl.edu 37 12 57604145 57604145 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 57604145 57604145 C T SNP LRP1 ENST00000243077 human ensembl 69_37n +1 known silent c.12636 p.L4212 0.999 superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC ENSG00000123384 15 0 0.00 13 6 31.58 - - - LRRCC1 0 genome.wustl.edu 37 8 86027725 86027725 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 8 86027725 86027725 C T SNP LRRCC1 ENST00000360375 human ensembl 69_37n +1 known missense c.836 p.S279F 0.998 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin - no_errors LRRCC1 HGNC ENSG00000133739 40 0 0.00 54 11 16.92 - - - LUC7L3 0 genome.wustl.edu 37 17 48828109 48828109 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 48828109 48828109 G A SNP LUC7L3 ENST00000513969 human ensembl 69_37n +1 putative missense c.232 p.A78T 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region LUC7L3 HGNC ENSG00000108848 9 0 0.00 19 5 20.83 - - - LY6H 0 genome.wustl.edu 37 8 144239845 144239845 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 8 144239845 144239845 C T SNP LY6H ENST00000342752 human ensembl 69_37n -1 known missense c.308 p.R103Q 0.990 pfam_LY6_UPAR,smart_LY6_UPA_recep-like pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LY6H HGNC ENSG00000176956 44 0 0.00 46 11 19.30 - - - LZTS1 0 genome.wustl.edu 37 8 20107469 20107469 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 8 20107469 20107469 C G SNP LZTS1 ENST00000265801 human ensembl 69_37n -1 known missense c.1555 p.D519H 0.997 pfam_Fez1 pfam_Fez1 - no_errors LZTS1 HGNC ENSG00000061337 38 0 0.00 38 13 25.49 - - - MAGEA11 0 genome.wustl.edu 37 X 148798335 148798335 + Missense_Mutation SNP A A T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 148798335 148798335 A T SNP MAGEA11 ENST00000355220 human ensembl 69_37n +1 known missense c.1189 p.M397L 0.183 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA11 HGNC ENSG00000185247 30 0 0.00 33 8 18.60 - - - MAGEA8 0 genome.wustl.edu 37 X 149013455 149013455 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 149013455 149013455 G A SNP MAGEA8 ENST00000286482 human ensembl 69_37n +1 known missense c.409 p.E137K 0.048 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA8 HGNC ENSG00000156009 47 0 0.00 78 17 17.89 - - - MAGEB6 0 genome.wustl.edu 37 X 26212603 26212603 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 26212603 26212603 G C SNP MAGEB6 ENST00000379034 human ensembl 69_37n +1 known missense c.640 p.E214Q 0.001 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB6 HGNC ENSG00000176746 31 0 0.00 29 15 34.09 - - - MAN2A1 0 genome.wustl.edu 37 5 109120580 109120580 + Silent SNP T T C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 109120580 109120580 T C SNP MAN2A1 ENST00000261483 human ensembl 69_37n +1 known silent c.1713 p.A571 0.940 pfam_Glyco_hydro_38_cen_dom,smart_Glyco_hydro_38_cen_dom pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A1 HGNC ENSG00000112893 52 0 0.00 70 8 10.26 - - - MAN2A1 0 genome.wustl.edu 37 5 109202657 109202657 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 109202657 109202657 G C SNP MAN2A1 ENST00000261483 human ensembl 69_37n +1 known missense c.3393 p.L1131F 1.000 pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A1 HGNC ENSG00000112893 19 0 0.00 27 18 40.00 - - - MANBA 0 genome.wustl.edu 37 4 103592459 103592459 + Silent SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 4 103592459 103592459 G C SNP MANBA ENST00000226578 human ensembl 69_37n -1 known silent c.1209 p.L403 0.990 pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like - no_errors MANBA HGNC ENSG00000109323 46 0 0.00 33 30 46.88 - - - MAPK14 0 genome.wustl.edu 37 6 36043611 36043611 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 36043611 36043611 C T SNP MAPK14 ENST00000491957 human ensembl 69_37n +1 known missense c.509 p.S170F 0.007 smart_Ser/Thr_dual-sp_kinase_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,pfscan_Prot_kinase_cat_dom - no_errors MAPK14 HGNC ENSG00000112062 46 0 0.00 44 18 29.03 - - - MAPRE1 0 genome.wustl.edu 37 20 31434459 31434459 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 20 31434459 31434459 G A SNP MAPRE1 ENST00000375571 human ensembl 69_37n +1 known silent c.633 p.E211 1.000 pfam_EB1_C pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain - no_errors MAPRE1 HGNC ENSG00000101367 67 0 0.00 50 14 21.88 - - - MAST2 0 genome.wustl.edu 37 1 46495164 46495164 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 46495164 46495164 G A SNP MAST2 ENST00000361297 human ensembl 69_37n +1 known missense c.2245 p.E749K 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_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST2 HGNC ENSG00000086015 32 0 0.00 18 16 47.06 - - - MBNL3 0 genome.wustl.edu 37 X 131516235 131516235 + Missense_Mutation SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 131516235 131516235 G T SNP MBNL3 ENST00000370853 human ensembl 69_37n -1 known missense c.1024 p.P342T 1.000 NULL smart_Znf_CCCH - no_errors MBNL3 HGNC ENSG00000076770 65 0 0.00 78 29 27.10 - - - MBOAT7 0 genome.wustl.edu 37 19 54677870 54677870 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 19 54677870 54677870 G C SNP MBOAT7 ENST00000245615 human ensembl 69_37n -1 known missense c.1287 p.I429M 1.000 NULL pfam_MBOAT_fam - no_errors MBOAT7 HGNC ENSG00000125505 24 0 0.00 16 15 48.39 - - - MCAT 0 genome.wustl.edu 37 22 43537171 43537171 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 22 43537171 43537171 C T SNP MCAT ENST00000290429 human ensembl 69_37n -1 known missense c.508 p.E170K 1.000 pfam_Acyl_transferase,superfamily_Acyl_Trfase/lysoPLipase,smart_PKS_acyl_transferase pfam_Acyl_transferase,superfamily_Acyl_Trfase/lysoPLipase,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_acyl_transferase - no_errors MCAT HGNC ENSG00000100294 78 0 0.00 35 14 28.57 - - - MED12 0 genome.wustl.edu 37 X 70340925 70340925 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 70340925 70340925 G A SNP MED12 ENST00000333646 human ensembl 69_37n +1 known missense c.658 p.G220R 0.927 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 25 0 0.00 31 12 27.91 - - - MEF2A 0 genome.wustl.edu 37 15 100185769 100185769 + Missense_Mutation SNP A A T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 15 100185769 100185769 A T SNP MEF2A ENST00000338042 human ensembl 69_37n +1 known missense c.58 p.T20S 1.000 pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2A HGNC ENSG00000068305 25 0 0.00 29 6 17.14 - - - METTL25 0 genome.wustl.edu 37 12 82783660 82783660 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 82783660 82783660 G C SNP METTL25 ENST00000248306 human ensembl 69_37n +1 known missense c.490 p.E164Q 1.000 NULL NULL - no_errors METTL25 HGNC ENSG00000127720 35 0 0.00 38 20 34.48 - - - MFSD3 0 genome.wustl.edu 37 8 145736542 145736542 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 8 145736542 145736542 C G SNP MFSD3 ENST00000301327 human ensembl 69_37n +1 known missense c.1234 p.L412V 0.064 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD3 HGNC ENSG00000167700 55 0 0.00 33 29 46.77 - - - MID2 0 genome.wustl.edu 37 X 107167684 107167684 + Missense_Mutation SNP T T G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 107167684 107167684 T G SNP MID2 ENST00000262843 human ensembl 69_37n +1 known missense c.1547 p.I516R 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors MID2 HGNC ENSG00000080561 29 0 0.00 50 11 18.03 - - - MINPP1 0 genome.wustl.edu 37 10 89312227 89312227 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 10 89312227 89312227 G A SNP MINPP1 ENST00000371996 human ensembl 69_37n +1 known missense c.1456 p.E486K 1.000 NULL pfam_His_Pase_superF_clade-2,pirsf_Histidine_acid_Pase_euk - no_errors MINPP1 HGNC ENSG00000107789 12 0 0.00 10 16 61.54 - - - MIR222 0 genome.wustl.edu 37 X 45606466 45606466 + RNA SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 45606466 45606466 G A SNP MIR222 ENST00000384992 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors MIR222 HGNC ENSG00000207725 15 0 0.00 20 14 41.18 - - - MIR524 0 genome.wustl.edu 37 19 54214325 54214325 + RNA SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 19 54214325 54214325 G C SNP MIR524 ENST00000385242 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors MIR524 HGNC ENSG00000207977 72 0 0.00 93 44 32.12 - - - MKL1 0 genome.wustl.edu 37 22 40825709 40825709 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 22 40825709 40825709 C T SNP MKL1 ENST00000355630 human ensembl 69_37n -1 known missense c.202 p.D68N 1.000 pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd - no_errors MKL1 HGNC ENSG00000196588 48 0 0.00 58 19 24.68 - - - MLL2 0 genome.wustl.edu 37 12 49440498 49440498 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 49440498 49440498 C T SNP MLL2 ENST00000301067 human ensembl 69_37n -1 known missense c.4312 p.D1438N 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 26 0 0.00 11 5 29.41 - - - MLL3 0 genome.wustl.edu 37 7 151880189 151880189 + Nonsense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 151880189 151880189 G C SNP MLL3 ENST00000355193 human ensembl 69_37n -1 known nonsense c.5135 p.S1712* 1.000 smart_HMG_superfamily pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 66 0 0.00 101 46 31.29 - - - MLYCD 0 genome.wustl.edu 37 16 83948687 83948687 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 16 83948687 83948687 G A SNP MLYCD ENST00000262430 human ensembl 69_37n +1 known missense c.1075 p.E359K 0.938 pfam_Malonyl_CoA_deC pfam_Malonyl_CoA_deC - no_errors MLYCD HGNC ENSG00000103150 59 0 0.00 48 10 17.24 - - - MMGT1 0 genome.wustl.edu 37 X 135055869 135055869 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 135055869 135055869 G A SNP MMGT1 ENST00000433339 human ensembl 69_37n -1 known missense c.161 p.S54L 0.057 NULL pfam_Magnesium_transport - no_errors MMGT1 HGNC ENSG00000169446 10 0 0.00 9 5 35.71 - - - MMP21 0 genome.wustl.edu 37 10 127461192 127461192 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 10 127461192 127461192 G C SNP MMP21 ENST00000368808 human ensembl 69_37n -1 known missense c.825 p.I275M 1.000 pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin - no_errors MMP21 HGNC ENSG00000154485 35 0 0.00 22 25 53.19 - - - MMRN1 0 genome.wustl.edu 37 4 90857263 90857263 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 4 90857263 90857263 G C SNP MMRN1 ENST00000264790 human ensembl 69_37n +1 known missense c.2432 p.R811T 0.485 NULL pfam_C1q,pfam_EMI_domain,pfam_EGF-like_dom,superfamily_Tumour_necrosis_fac-like,smart_EGF-like,smart_EGF-like_Ca-bd,smart_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain,prints_C1q - no_errors MMRN1 HGNC ENSG00000138722 14 0 0.00 15 10 40.00 - - - MN1 0 genome.wustl.edu 37 22 28192899 28192899 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 22 28192899 28192899 C T SNP MN1 ENST00000302326 human ensembl 69_37n -1 known missense c.3633 p.M1211I 1.000 NULL NULL - no_errors MN1 HGNC ENSG00000169184 23 0 0.00 22 4 15.38 - - - MPZL1 0 genome.wustl.edu 37 1 167741609 167741609 + Nonsense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 167741609 167741609 C A SNP MPZL1 ENST00000359523 human ensembl 69_37n +1 known nonsense c.356 p.S119* 0.998 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Myelin_P0 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Myelin_P0 - no_errors MPZL1 HGNC ENSG00000197965 50 0 0.00 39 35 47.30 - - - MRPL38 0 genome.wustl.edu 37 17 73895240 73895240 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 73895240 73895240 C T SNP MRPL38 ENST00000309352 human ensembl 69_37n -1 known silent c.1005 p.L335 0.979 NULL pfam_PtdEtn-bd_prot_PEBP,superfamily_PtdEtn-bd_prot_PEBP - no_errors MRPL38 HGNC ENSG00000204316 31 0 0.00 23 7 23.33 - - - MRPL45P2 0 genome.wustl.edu 37 17 45567604 45567604 + RNA SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 45567604 45567604 G A SNP MRPL45P2 ENST00000425159 human ensembl 69_37n -1 known rna NULL NULL 0.950 - - - no_errors MRPL45P2 HGNC ENSG00000228782 25 0 0.00 56 15 21.13 - - - MT1G 0 genome.wustl.edu 37 16 56700792 56700792 + Nonstop_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 16 56700792 56700792 C G SNP MT1G ENST00000379811 human ensembl 69_37n -1 known nonstop c.188 p.*63S 0.997 NULL pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert - no_errors MT1G HGNC ENSG00000125144 62 0 0.00 60 21 25.93 - - - MT4 0 genome.wustl.edu 37 16 56601663 56601663 + Missense_Mutation SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 16 56601663 56601663 G T SNP MT4 ENST00000219162 human ensembl 69_37n +1 known missense c.32 p.G11V 0.993 pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert - no_errors MT4 HGNC ENSG00000102891 40 0 0.00 25 4 13.79 - - - MTA2 0 genome.wustl.edu 37 11 62367698 62367699 + Frame_Shift_Del DEL AG AG - TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 11 62367698 62367699 AG - DEL MTA2 ENST00000278823 human ensembl 69_37n -1 known frame_shift_del c.130_129 p.C44fs 1.000:1.000 pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors MTA2 HGNC ENSG00000149480 53 0 0.00 57 17 22.97 - - - MTERFD3 0 genome.wustl.edu 37 12 107371776 107371776 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 107371776 107371776 G A SNP MTERFD3 ENST00000240050 human ensembl 69_37n -1 known silent c.717 p.F239 0.999 pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERFD3 HGNC ENSG00000120832 22 0 0.00 21 6 22.22 - - - MUC17 0 genome.wustl.edu 37 7 100678637 100678637 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 100678637 100678637 G A SNP MUC17 ENST00000306151 human ensembl 69_37n +1 known missense c.3940 p.E1314K 0.001 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 91 0 0.00 111 34 23.13 - - - MUSK 0 genome.wustl.edu 37 9 113457776 113457776 + Nonsense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 9 113457776 113457776 C G SNP MUSK ENST00000189978 human ensembl 69_37n +1 known nonsense c.452 p.S151* 0.961 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MUSK HGNC ENSG00000030304 36 0 0.00 41 19 31.67 - - - MXRA5 0 genome.wustl.edu 37 X 3248093 3248093 + Missense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 3248093 3248093 C A SNP MXRA5 ENST00000217939 human ensembl 69_37n -1 known missense c.675 p.M225I 0.018 smart_Cys-rich_flank_reg_C pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC ENSG00000101825 54 0 0.00 73 10 12.05 - - - MYCBPAP 0 genome.wustl.edu 37 17 48606547 48606547 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 48606547 48606547 G A SNP MYCBPAP ENST00000323776 human ensembl 69_37n +1 known missense c.2851 p.E951K 0.855 NULL NULL - no_errors MYCBPAP HGNC ENSG00000136449 15 0 0.00 14 6 30.00 - - - MYH10 0 genome.wustl.edu 37 17 8384677 8384677 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 8384677 8384677 C G SNP MYH10 ENST00000396239 human ensembl 69_37n -1 known missense c.5197 p.E1733Q 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 36 0 0.00 19 26 57.78 - - - MYH15 0 genome.wustl.edu 37 3 108163603 108163603 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 108163603 108163603 C T SNP MYH15 ENST00000273353 human ensembl 69_37n -1 known missense c.2599 p.E867K 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 60 0 0.00 30 40 57.14 - - - MYH3 0 genome.wustl.edu 37 17 10539141 10539141 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 10539141 10539141 C G SNP MYH3 ENST00000226209 human ensembl 69_37n -1 known missense c.3886 p.E1296Q 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH3 HGNC ENSG00000109063 76 0 0.00 45 51 52.04 - - - MYH7 0 genome.wustl.edu 37 14 23894032 23894032 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 14 23894032 23894032 C G SNP MYH7 ENST00000355349 human ensembl 69_37n -1 known missense c.2625 p.E875D 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 37 0 0.00 29 13 30.95 - - - MYO18B 0 genome.wustl.edu 37 22 26423196 26423196 + Missense_Mutation SNP T T C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 22 26423196 26423196 T C SNP MYO18B ENST00000335473 human ensembl 69_37n +1 known missense c.7256 p.L2419P 0.000 NULL pfam_Myosin_head_motor_dom,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 31 0 0.00 19 4 17.39 - - - MYOF 0 genome.wustl.edu 37 10 95079720 95079720 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 10 95079720 95079720 C G SNP MYOF ENST00000359263 human ensembl 69_37n -1 known missense c.5507 p.R1836T 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting - no_errors MYOF HGNC ENSG00000138119 70 0 0.00 45 53 54.08 - - - MYOM2 0 genome.wustl.edu 37 8 2024237 2024237 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 8 2024237 2024237 C T SNP MYOM2 ENST00000262113 human ensembl 69_37n +1 known silent c.1137 p.V379 0.223 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM2 HGNC ENSG00000036448 33 0 0.00 16 6 27.27 - - - MYT1 0 genome.wustl.edu 37 20 62839631 62839631 + Nonsense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 20 62839631 62839631 C G SNP MYT1 ENST00000536311 human ensembl 69_37n +1 known nonsense c.1082 p.S361* 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 30 0 0.00 14 7 33.33 - - - NACAD 0 genome.wustl.edu 37 7 45124055 45124055 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 45124055 45124055 G C SNP NACAD ENST00000490531 human ensembl 69_37n -1 known missense c.1724 p.S575C 0.000 NULL pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx - no_errors NACAD HGNC ENSG00000136274 72 0 0.00 72 30 29.41 - - - NAGS 0 genome.wustl.edu 37 17 42085925 42085925 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 42085925 42085925 C G SNP NAGS ENST00000293404 human ensembl 69_37n +1 known missense c.1561 p.L521V 1.000 pirsf_GlcNAc_Synth_met,pfscan_GNAT_dom pfam_DUF619,superfamily_Asp/Glu/Uridylate_kinase,superfamily_Acyl_CoA_acyltransferase,pirsf_GlcNAc_Synth_met,pfscan_GNAT_dom - no_errors NAGS HGNC ENSG00000161653 46 0 0.00 42 10 19.23 - - - NBAS 0 genome.wustl.edu 37 2 15432698 15432698 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 15432698 15432698 C T SNP NBAS ENST00000281513 human ensembl 69_37n -1 known missense c.4990 p.D1664N 0.243 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 36 0 0.00 44 13 22.81 - - - NBEAL2 0 genome.wustl.edu 37 3 47038822 47038822 + Missense_Mutation SNP A A G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 47038822 47038822 A G SNP NBEAL2 ENST00000450053 human ensembl 69_37n +1 known missense c.2723 p.E908G 0.612 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 22 0 0.00 21 14 40.00 - - - NEDD9 0 genome.wustl.edu 37 6 11185572 11185572 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 11185572 11185572 G A SNP NEDD9 ENST00000379446 human ensembl 69_37n -1 known silent c.2328 p.V776 0.997 pfam_CAS_DUF3513 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 76 0 0.00 68 31 30.69 - - - NFS1 0 genome.wustl.edu 37 20 34262465 34262465 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 20 34262465 34262465 C T SNP NFS1 ENST00000374092 human ensembl 69_37n -1 known silent c.1023 p.V341 0.999 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Cysteine_dSase_NifS,tigrfam_Cys_deSase pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Cysteine_dSase_NifS,tigrfam_Cys_deSase - no_errors NFS1 HGNC ENSG00000244005 71 0 0.00 73 42 36.52 - - - NID2 0 genome.wustl.edu 37 14 52534670 52534670 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 14 52534670 52534670 G C SNP NID2 ENST00000216286 human ensembl 69_37n -1 known missense c.440 p.S147C 0.041 smart_Nidogen_extracell_dom pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID2 HGNC ENSG00000087303 10 0 0.00 6 8 57.14 - - - NINL 0 genome.wustl.edu 37 20 25434275 25434275 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 20 25434275 25434275 C T SNP NINL ENST00000278886 human ensembl 69_37n -1 known missense c.3961 p.E1321K 0.987 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NINL HGNC ENSG00000101004 38 0 0.00 52 7 11.67 - - - NIPBL 0 genome.wustl.edu 37 5 36995903 36995903 + Nonsense_Mutation SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 36995903 36995903 G T SNP NIPBL ENST00000282516 human ensembl 69_37n +1 known nonsense c.3301 p.E1101* 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 27 0 0.00 44 15 25.42 - - - NLGN3 0 genome.wustl.edu 37 X 70389243 70389243 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 70389243 70389243 C G SNP NLGN3 ENST00000358741 human ensembl 69_37n +1 known missense c.1843 p.H615D 1.000 pfam_CarbesteraseB,prints_Neuroligin pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC ENSG00000196338 26 0 0.00 23 13 36.11 - - - NLRP5 0 genome.wustl.edu 37 19 56538906 56538906 + Missense_Mutation SNP A A G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 19 56538906 56538906 A G SNP NLRP5 ENST00000390649 human ensembl 69_37n +1 known missense c.1307 p.Q436R 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP5 HGNC ENSG00000171487 22 0 0.00 18 14 43.75 - - - NLRP6 0 genome.wustl.edu 37 11 284398 284398 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 11 284398 284398 C T SNP NLRP6 ENST00000312165 human ensembl 69_37n +1 known silent c.2370 p.V790 0.937 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP6 HGNC ENSG00000174885 11 0 0.00 6 5 45.45 - - - NOMO1 0 genome.wustl.edu 37 16 14968961 14968961 + Missense_Mutation SNP A A G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 16 14968961 14968961 A G SNP NOMO1 ENST00000287667 human ensembl 69_37n +1 known missense c.2123 p.E708G 1.000 NULL pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO1 HGNC ENSG00000103512 105 0 0.00 117 29 19.86 - - - NOP58 0 genome.wustl.edu 37 2 203149118 203149118 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 203149118 203149118 G A SNP NOP58 ENST00000264279 human ensembl 69_37n +1 known missense c.348 p.M116I 1.000 NULL pfam_SnoRNA-bd_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC - no_errors NOP58 HGNC ENSG00000055044 73 0 0.00 83 31 27.19 - - - NOTCH3 0 genome.wustl.edu 37 19 15291538 15291538 + Silent SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 19 15291538 15291538 G T SNP NOTCH3 ENST00000263388 human ensembl 69_37n -1 known silent c.3096 p.L1032 0.966 pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Notch,pfscan_EG-like_dom pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 16 0 0.00 8 6 42.86 - - - NPAS3 0 genome.wustl.edu 37 14 33684482 33684482 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 14 33684482 33684482 C T SNP NPAS3 ENST00000356141 human ensembl 69_37n +1 known missense c.235 p.P79S 1.000 superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd pfam_PAS_fold_3,pfam_PAS_fold,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pfscan_PAS,pfscan_HLH_DNA-bd - no_errors NPAS3 HGNC ENSG00000151322 44 0 0.00 34 12 25.53 - - - NR1H4 0 genome.wustl.edu 37 12 100955671 100955671 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 100955671 100955671 G A SNP NR1H4 ENST00000551379 human ensembl 69_37n +1 known missense c.1117 p.D373N 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors NR1H4 HGNC ENSG00000012504 44 0 0.00 66 10 12.82 - - - NRBP1 0 genome.wustl.edu 37 2 27664625 27664625 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 27664625 27664625 C T SNP NRBP1 ENST00000233557 human ensembl 69_37n +1 known silent c.1554 p.F518 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 NRBP1 HGNC ENSG00000115216 49 0 0.00 62 49 43.75 - - - NRD1 0 genome.wustl.edu 37 1 52255313 52255313 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 52255313 52255313 G A SNP NRD1 ENST00000354831 human ensembl 69_37n -1 known missense c.3389 p.S1130L 0.988 superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors NRD1 HGNC ENSG00000078618 35 0 0.00 61 16 20.78 - - - NSUN6 0 genome.wustl.edu 37 10 18903468 18903468 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 10 18903468 18903468 C G SNP NSUN6 ENST00000377304 human ensembl 69_37n -1 known missense c.496 p.D166H 0.997 pfam_PUA,superfamily_PUA-like_domain,pfscan_PUA pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_PUA,superfamily_PUA-like_domain,prints_RCMT,pfscan_PUA - no_errors NSUN6 HGNC ENSG00000241058 38 0 0.00 33 36 51.43 - - - NUGGC 0 genome.wustl.edu 37 8 27922138 27922138 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 8 27922138 27922138 C T SNP NUGGC ENST00000341513 human ensembl 69_37n -1 known silent c.822 p.V274 1.000 pfam_Dynamin_GTPase pfam_Dynamin_GTPase - no_errors NUGGC HGNC ENSG00000189233 38 0 0.00 40 14 25.93 - - - NUMA1 0 genome.wustl.edu 37 11 71724696 71724696 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 11 71724696 71724696 C T SNP NUMA1 ENST00000393695 human ensembl 69_37n -1 known missense c.3853 p.E1285K 0.991 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 9 0 0.00 5 6 54.55 - - - NUSAP1 0 genome.wustl.edu 37 15 41625187 41625187 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 15 41625187 41625187 C G SNP NUSAP1 ENST00000559596 human ensembl 69_37n +1 known missense c.32 p.S11C 1.000 NULL NULL - no_errors NUSAP1 HGNC ENSG00000137804 28 0 0.00 36 11 23.40 - - - OFD1 0 genome.wustl.edu 37 X 13764545 13764545 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 13764545 13764545 G C SNP OFD1 ENST00000340096 human ensembl 69_37n +1 known missense c.625 p.E209Q 0.644 NULL superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors OFD1 HGNC ENSG00000046651 35 0 0.00 35 14 28.57 - - - OGDHL 0 genome.wustl.edu 37 10 50966591 50966591 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 10 50966591 50966591 C T SNP OGDHL ENST00000374103 human ensembl 69_37n -1 known silent c.48 p.A16 0.000 NULL pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 10 0 0.00 4 6 60.00 - - - OLR1 0 genome.wustl.edu 37 12 10313515 10313515 + Missense_Mutation SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 10313515 10313515 G T SNP OLR1 ENST00000309539 human ensembl 69_37n -1 known missense c.434 p.P145Q 1.000 pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors OLR1 HGNC ENSG00000173391 32 0 0.00 26 10 27.03 - - - OPA1 0 genome.wustl.edu 37 3 193374947 193374947 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 193374947 193374947 G C SNP OPA1 ENST00000361510 human ensembl 69_37n +1 known missense c.2257 p.D753H 1.000 NULL pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin - no_errors OPA1 HGNC ENSG00000198836 43 0 0.00 64 28 30.43 - - - OR10A7 0 genome.wustl.edu 37 12 55615100 55615100 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 55615100 55615100 G A SNP OR10A7 ENST00000326258 human ensembl 69_37n +1 known missense c.292 p.G98S 0.265 pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR10A7 HGNC ENSG00000179919 58 0 0.00 76 20 20.62 - - - OR10J3 0 genome.wustl.edu 37 1 159283665 159283665 + Missense_Mutation SNP T T G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 159283665 159283665 T G SNP OR10J3 ENST00000332217 human ensembl 69_37n -1 known missense c.785 p.K262T 1.000 pfam_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10J3 HGNC ENSG00000196266 48 0 0.00 78 15 15.79 - - - OR13C3 0 genome.wustl.edu 37 9 107298627 107298627 + Silent SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 9 107298627 107298627 G T SNP OR13C3 ENST00000374781 human ensembl 69_37n -1 known silent c.468 p.I156 1.000 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR13C3 HGNC ENSG00000204246 42 0 0.00 72 29 28.71 - - - OR13H1 0 genome.wustl.edu 37 X 130678345 130678345 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 130678345 130678345 C G SNP OR13H1 ENST00000338616 human ensembl 69_37n +1 known missense c.298 p.Q100E 0.129 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR13H1 HGNC ENSG00000171054 79 0 0.00 138 19 12.10 - - - OR1S2 0 genome.wustl.edu 37 11 57971339 57971339 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 11 57971339 57971339 G C SNP OR1S2 ENST00000302592 human ensembl 69_37n -1 known missense c.315 p.I105M 0.993 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR1S2 HGNC ENSG00000197887 87 0 0.00 61 46 42.59 - - - OR4S2 0 genome.wustl.edu 37 11 55418639 55418639 + Missense_Mutation SNP A A G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 11 55418639 55418639 A G SNP OR4S2 ENST00000312422 human ensembl 69_37n +1 known missense c.260 p.D87G 0.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4S2 HGNC ENSG00000174982 86 0 0.00 62 47 42.34 - - - OR5A1 0 genome.wustl.edu 37 11 59211307 59211307 + Silent SNP T T C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 11 59211307 59211307 T C SNP OR5A1 ENST00000302030 human ensembl 69_37n +1 known silent c.666 p.G222 0.000 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 OR5A1 HGNC ENSG00000172320 53 0 0.00 58 10 14.71 - - - OR5C1 0 genome.wustl.edu 37 9 125551554 125551554 + Nonsense_Mutation SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 9 125551554 125551554 G T SNP OR5C1 ENST00000373680 human ensembl 69_37n +1 known nonsense c.343 p.E115* 0.987 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 OR5C1 HGNC ENSG00000148215 51 0 0.00 49 9 15.25 - - - OR5H1 0 genome.wustl.edu 37 3 97851707 97851707 + Missense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 97851707 97851707 C A SNP OR5H1 ENST00000354565 human ensembl 69_37n +1 known missense c.166 p.H56N 0.998 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 OR5H1 HGNC ENSG00000231192 93 0 0.00 52 50 49.02 - - - OR5M3 0 genome.wustl.edu 37 11 56237718 56237718 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 11 56237718 56237718 C G SNP OR5M3 ENST00000312240 human ensembl 69_37n -1 known missense c.256 p.D86H 0.005 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR5M3 HGNC ENSG00000174937 40 0 0.00 32 23 41.82 - - - OR6C76 0 genome.wustl.edu 37 12 55820488 55820488 + Missense_Mutation SNP T T A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 55820488 55820488 T A SNP OR6C76 ENST00000328314 human ensembl 69_37n +1 known missense c.451 p.L151M 0.000 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR6C76 HGNC ENSG00000185821 32 0 0.00 25 8 24.24 - - - OR8A1 0 genome.wustl.edu 37 11 124440642 124440642 + Silent SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 11 124440642 124440642 G C SNP OR8A1 ENST00000284287 human ensembl 69_37n +1 known silent c.678 p.T226 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR8A1 HGNC ENSG00000196119 48 0 0.00 38 38 50.00 - - - OTOGL 0 genome.wustl.edu 37 12 80717592 80717592 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 80717592 80717592 G C SNP OTOGL ENST00000458043 human ensembl 69_37n +1 known missense c.4144 p.E1382Q 1.000 superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 48 0 0.00 23 15 39.47 - - - OVCH1 0 genome.wustl.edu 37 12 29644106 29644106 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 29644106 29644106 G A SNP OVCH1 ENST00000318184 human ensembl 69_37n -1 known silent c.474 p.I158 0.021 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_CUB,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,smart_Peptidase_S1_S6,smart_CUB,prints_Peptidase_S1A,pfscan_CUB,pfscan_Peptidase_S1_S6 - no_errors OVCH1 HGNC ENSG00000187950 46 0 0.00 55 15 21.43 - - - P2RX2 0 genome.wustl.edu 37 12 133198141 133198141 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 133198141 133198141 C T SNP P2RX2 ENST00000343948 human ensembl 69_37n +1 known silent c.1077 p.L359 0.000 NULL pfam_P2X_purnocptor,prints_P2X2_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX2 HGNC ENSG00000187848 26 0 0.00 25 7 21.88 - - - PALB2 0 genome.wustl.edu 37 16 23647167 23647167 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 16 23647167 23647167 C T SNP PALB2 ENST00000261584 human ensembl 69_37n -1 known missense c.700 p.D234N 0.001 NULL superfamily_WD40_repeat_dom - no_errors PALB2 HGNC ENSG00000083093 44 0 0.00 86 12 12.24 - - - PALMD 0 genome.wustl.edu 37 1 100159585 100159585 + Missense_Mutation SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 100159585 100159585 G T SNP PALMD ENST00000263174 human ensembl 69_37n +1 known missense c.1623 p.M541I 1.000 NULL pfam_Paralemmin - no_errors PALMD HGNC ENSG00000099260 22 0 0.00 32 9 21.95 - - - PAPPA2 0 genome.wustl.edu 37 1 176740240 176740240 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 176740240 176740240 G C SNP PAPPA2 ENST00000367662 human ensembl 69_37n +1 known missense c.4639 p.D1547H 0.940 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 51 0 0.00 53 46 46.46 - - - PARP1 0 genome.wustl.edu 37 1 226566885 226566885 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 226566885 226566885 G C SNP PARP1 ENST00000366794 human ensembl 69_37n -1 known missense c.1703 p.S568C 1.000 pfam_WGR_domain,superfamily_WGR_domain,smart_WGR_domain,pirsf_NAD_ADPRT pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP1 HGNC ENSG00000143799 73 0 0.00 27 35 56.45 - - - PAX7 0 genome.wustl.edu 37 1 18961014 18961014 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 18961014 18961014 C T SNP PAX7 ENST00000375375 human ensembl 69_37n +1 known silent c.303 p.I101 0.988 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,prints_Paired_dom,pfscan_Paired_dom 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 11 6 35.29 - - - PCDH11X 0 genome.wustl.edu 37 X 91642764 91642764 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 91642764 91642764 G C SNP PCDH11X ENST00000373094 human ensembl 69_37n +1 known missense c.3175 p.E1059Q 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 53 0 0.00 63 28 30.77 - - - PCDHA12 0 genome.wustl.edu 37 5 140255159 140255159 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 140255159 140255159 C T SNP PCDHA12 ENST00000398631 human ensembl 69_37n +1 known silent c.102 p.S34 0.029 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 36 0 0.00 27 9 25.00 - - - PCDHB14 0 genome.wustl.edu 37 5 140605262 140605262 + Nonsense_Mutation SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 140605262 140605262 G T SNP PCDHB14 ENST00000239449 human ensembl 69_37n +1 known nonsense c.2185 p.E729* 0.015 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 53 0 0.00 30 13 30.23 - - - PCDHB16 0 genome.wustl.edu 37 5 140562820 140562820 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 140562820 140562820 G A SNP PCDHB16 ENST00000361016 human ensembl 69_37n +1 known missense c.686 p.R229H 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC ENSG00000196963 24 0 0.00 16 8 33.33 - - - PCDHB16 0 genome.wustl.edu 37 5 140564255 140564255 + Silent SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 140564255 140564255 G C SNP PCDHB16 ENST00000361016 human ensembl 69_37n +1 known silent c.2121 p.L707 0.014 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC ENSG00000196963 28 0 0.00 23 9 28.12 - - - PCDHGB1 0 genome.wustl.edu 37 5 140729835 140729835 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 140729835 140729835 G C SNP PCDHGB1 ENST00000523390 human ensembl 69_37n +1 known missense c.8 p.R3T 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 26 0 0.00 16 7 30.43 - - - PCNT 0 genome.wustl.edu 37 21 47817975 47817975 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 21 47817975 47817975 G C SNP PCNT ENST00000359568 human ensembl 69_37n +1 known missense c.4494 p.E1498D 1.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 53 0 0.00 59 35 36.84 - - - PCYT2 0 genome.wustl.edu 37 17 79864720 79864720 + Nonsense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 79864720 79864720 G C SNP PCYT2 ENST00000572995 human ensembl 69_37n -1 novel nonsense c.122 p.S41* 1.000 NULL pfam_Cytidylyltransf,tigrfam_Cyt_trans-rel - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PCYT2 HGNC ENSG00000185813 23 0 0.00 25 9 26.47 - - - PDE10A 0 genome.wustl.edu 37 6 165846521 165846521 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 165846521 165846521 C T SNP PDE10A ENST00000539869 human ensembl 69_37n -1 known missense c.634 p.G212S 0.999 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC ENSG00000112541 37 0 0.00 26 13 33.33 - - - PDE4DIP 0 genome.wustl.edu 37 1 144855784 144855784 + Missense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 144855784 144855784 C A SNP PDE4DIP ENST00000369356 human ensembl 69_37n -1 known missense c.6769 p.A2257S 1.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 33 0 0.00 48 9 15.79 - - - PDE4DIP 0 genome.wustl.edu 37 1 144923812 144923812 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 144923812 144923812 C T SNP PDE4DIP ENST00000369356 human ensembl 69_37n -1 known missense c.646 p.E216K 0.739 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 134 0 0.00 189 41 17.67 - - - PDE6C 0 genome.wustl.edu 37 10 95372794 95372794 + Silent SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 10 95372794 95372794 G C SNP PDE6C ENST00000371447 human ensembl 69_37n +1 known silent c.312 p.R104 0.919 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6C HGNC ENSG00000095464 12 0 0.00 14 11 44.00 - - - PER1 0 genome.wustl.edu 37 17 8046116 8046116 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 8046116 8046116 G A SNP PER1 ENST00000317276 human ensembl 69_37n -1 known missense c.3110 p.S1037F 0.985 pfam_Period_circadian-like_C pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors PER1 HGNC ENSG00000179094 18 0 0.00 15 14 48.28 - - - PER1 0 genome.wustl.edu 37 17 8047086 8047086 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 8047086 8047086 G A SNP PER1 ENST00000317276 human ensembl 69_37n -1 known missense c.2570 p.S857L 0.114 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors PER1 HGNC ENSG00000179094 22 0 0.00 14 15 51.72 - - - PER1 0 genome.wustl.edu 37 17 8049971 8049971 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 8049971 8049971 C T SNP PER1 ENST00000317276 human ensembl 69_37n -1 known silent c.1848 p.E616 1.000 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors PER1 HGNC ENSG00000179094 31 0 0.00 10 19 65.52 - - - PER1 0 genome.wustl.edu 37 17 8053432 8053432 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 8053432 8053432 G A SNP PER1 ENST00000317276 human ensembl 69_37n -1 known missense c.386 p.S129L 1.000 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors PER1 HGNC ENSG00000179094 62 0 0.00 30 29 47.54 - - - PHACTR1 0 genome.wustl.edu 37 6 13287299 13287299 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 13287299 13287299 C T SNP PHACTR1 ENST00000379335 human ensembl 69_37n +1 known missense c.424 p.H142Y 1.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR1 HGNC ENSG00000112137 112 0 0.00 104 69 39.66 - - - PHACTR4 0 genome.wustl.edu 37 1 28764913 28764913 + Silent SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 28764913 28764913 C G SNP PHACTR4 ENST00000373836 human ensembl 69_37n +1 known silent c.18 p.V6 1.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR4 HGNC ENSG00000204138 43 0 0.00 68 13 16.05 - - - PI4KA 0 genome.wustl.edu 37 22 21115652 21115652 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 22 21115652 21115652 C G SNP PI4KA ENST00000255882 human ensembl 69_37n -1 known missense c.2731 p.D911H 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 47 0 0.00 44 27 38.03 - - - PIAS1 0 genome.wustl.edu 37 15 68466118 68466118 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 15 68466118 68466118 C T SNP PIAS1 ENST00000249636 human ensembl 69_37n +1 known missense c.1057 p.H353Y 1.000 pfam_Znf_MIZ,pfscan_Znf_MIZ pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd - no_errors PIAS1 HGNC ENSG00000033800 64 0 0.00 63 19 23.17 - - - PIGO 0 genome.wustl.edu 37 9 35095226 35095226 + Missense_Mutation SNP T T C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 9 35095226 35095226 T C SNP PIGO ENST00000341666 human ensembl 69_37n -1 known missense c.337 p.I113V 0.009 superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGO HGNC ENSG00000165282 39 0 0.00 25 9 25.71 - - - PIM3 0 genome.wustl.edu 37 22 50356394 50356394 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 22 50356394 50356394 C T SNP PIM3 ENST00000360612 human ensembl 69_37n +1 known missense c.674 p.S225L 0.442 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,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PIM3 HGNC ENSG00000198355 20 0 0.00 7 5 38.46 - - - PIP5K1A 0 genome.wustl.edu 37 1 151214625 151214625 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 151214625 151214625 C T SNP PIP5K1A ENST00000368888 human ensembl 69_37n +1 known missense c.1390 p.R464W 1.000 NULL pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1A HGNC ENSG00000143398 43 0 0.00 45 23 33.82 - - - PIWIL1 0 genome.wustl.edu 37 12 130839094 130839094 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 130839094 130839094 G C SNP PIWIL1 ENST00000245255 human ensembl 69_37n +1 known missense c.1057 p.E353Q 0.998 pfam_PAZ,superfamily_PAZ,smart_PAZ,pfscan_PAZ pfam_Piwi,pfam_PAZ,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL1 HGNC ENSG00000125207 20 0 0.00 15 8 34.78 - - - PKD2 0 genome.wustl.edu 37 4 88973231 88973231 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 4 88973231 88973231 C T SNP PKD2 ENST00000237596 human ensembl 69_37n +1 known missense c.1637 p.P546L 1.000 pfam_PKD1_2_channel,pfam_Ion_trans_dom pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_HAND_2,prints_PKD_2,prints_PKD_1 - no_errors PKD2 HGNC ENSG00000118762 64 0 0.00 61 12 16.44 - - - PKM 0 genome.wustl.edu 37 15 72492897 72492897 + Silent SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 15 72492897 72492897 G T SNP PKM ENST00000319622 human ensembl 69_37n -1 known silent c.1407 p.I469 0.998 pfam_Pyrv_Knase_C,superfamily_Pyrv_Knase_C,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKM HGNC ENSG00000067225 20 0 0.00 21 7 25.00 - - - PKN2 0 genome.wustl.edu 37 1 89294223 89294223 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 89294223 89294223 G A SNP PKN2 ENST00000370521 human ensembl 69_37n +1 known missense c.2479 p.E827K 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_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors PKN2 HGNC ENSG00000065243 63 0 0.00 71 30 29.13 - - - PLCXD3 0 genome.wustl.edu 37 5 41313823 41313823 + Missense_Mutation SNP T T A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 41313823 41313823 T A SNP PLCXD3 ENST00000328457 human ensembl 69_37n -1 known missense c.862 p.S288C 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom - no_errors PLCXD3 HGNC ENSG00000182836 26 0 0.00 23 6 20.69 - - - PLD1 0 genome.wustl.edu 37 3 171405270 171405270 + Silent SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 171405270 171405270 C A SNP PLD1 ENST00000351298 human ensembl 69_37n -1 known silent c.1644 p.L548 1.000 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 73 0 0.00 135 57 29.53 - - - PLEC 0 genome.wustl.edu 37 8 145006649 145006649 + Silent SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 8 145006649 145006649 C A SNP PLEC ENST00000322810 human ensembl 69_37n -1 known silent c.2307 p.L769 0.628 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 32 0 0.00 19 14 42.42 - - - PLEKHG1 0 genome.wustl.edu 37 6 151152844 151152844 + Missense_Mutation SNP A A T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 151152844 151152844 A T SNP PLEKHG1 ENST00000358517 human ensembl 69_37n +1 known missense c.2597 p.D866V 0.896 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 21 0 0.00 9 7 41.18 - - - PLEKHG7 0 genome.wustl.edu 37 12 93134665 93134665 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 93134665 93134665 G A SNP PLEKHG7 ENST00000344636 human ensembl 69_37n +1 known missense c.40 p.E14K 0.997 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG7 HGNC ENSG00000187510 43 0 0.00 40 12 22.64 - - - PLK3 0 genome.wustl.edu 37 1 45266520 45266520 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 45266520 45266520 C T SNP PLK3 ENST00000372201 human ensembl 69_37n +1 known silent c.219 p.F73 0.999 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,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom - no_errors PLK3 HGNC ENSG00000173846 12 0 0.00 7 4 36.36 - - - PLXNA1 0 genome.wustl.edu 37 3 126724938 126724938 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 126724938 126724938 G A SNP PLXNA1 ENST00000393409 human ensembl 69_37n +1 known silent c.1914 p.V638 0.997 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA1 HGNC ENSG00000114554 48 0 0.00 21 58 73.42 - - - PLXNC1 0 genome.wustl.edu 37 12 94692560 94692560 + Nonsense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 94692560 94692560 G A SNP PLXNC1 ENST00000258526 human ensembl 69_37n +1 known nonsense c.4227 p.W1409* 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNC1 HGNC ENSG00000136040 31 0 0.00 62 20 24.39 - - - PMEL 0 genome.wustl.edu 37 12 56351203 56351203 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 56351203 56351203 G C SNP PMEL ENST00000360714 human ensembl 69_37n -1 known missense c.884 p.A295G 1.000 pfam_PKD_dom,smart_PKD/Chitinase_dom pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors PMEL HGNC ENSG00000185664 33 0 0.00 21 4 16.00 - - - PNPLA1 0 genome.wustl.edu 37 6 36259107 36259107 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 36259107 36259107 C T SNP PNPLA1 ENST00000457797 human ensembl 69_37n +1 known silent c.216 p.L72 0.817 superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA1 HGNC ENSG00000180316 31 0 0.00 26 11 29.73 - - - POTEA 0 genome.wustl.edu 37 8 43152473 43152473 + RNA SNP A A G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 8 43152473 43152473 A G SNP POTEA ENST00000522175 human ensembl 69_37n +1 known rna NULL NULL 0.990 - - - no_errors POTEA HGNC ENSG00000188877 86 0 0.00 86 18 17.31 - - - POTEC 0 genome.wustl.edu 37 18 14542700 14542700 + Nonsense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 18 14542700 14542700 C T SNP POTEC ENST00000358970 human ensembl 69_37n -1 known nonsense c.446 p.W149* 0.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors POTEC HGNC ENSG00000183206 126 0 0.00 168 25 12.95 - - - PPFIBP2 0 genome.wustl.edu 37 11 7647043 7647043 + Silent SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 11 7647043 7647043 G T SNP PPFIBP2 ENST00000299492 human ensembl 69_37n +1 known silent c.747 p.L249 1.000 pfam_Integrase_Tn916-type_DNA-bd_N pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_DNA-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP2 HGNC ENSG00000166387 33 0 0.00 16 16 50.00 - - - PPHLN1 0 genome.wustl.edu 37 12 42792671 42792671 + Missense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 42792671 42792671 C A SNP PPHLN1 ENST00000395568 human ensembl 69_37n +1 known missense c.784 p.P262T 0.986 NULL NULL - no_errors PPHLN1 HGNC ENSG00000134283 42 0 0.00 48 18 27.27 - - - PPIP5K2 0 genome.wustl.edu 37 5 102483692 102483692 + Missense_Mutation SNP T T C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 102483692 102483692 T C SNP PPIP5K2 ENST00000358359 human ensembl 69_37n +1 known missense c.700 p.Y234H 1.000 NULL pfam_His_Pase_superF_clade-2 - no_errors PPIP5K2 HGNC ENSG00000145725 79 0 0.00 78 18 18.75 - - - PPP1R12A 0 genome.wustl.edu 37 12 80266599 80266599 + Silent SNP A A C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 80266599 80266599 A C SNP PPP1R12A ENST00000261207 human ensembl 69_37n -1 known silent c.357 p.L119 0.514 pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12A HGNC ENSG00000058272 54 0 0.00 54 22 28.95 - - - PPY 0 genome.wustl.edu 37 17 42018893 42018893 + Nonsense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 42018893 42018893 C A SNP PPY ENST00000225992 human ensembl 69_37n -1 known nonsense c.130 p.E44* 0.935 pfam_Pancreatic_hormone-like,smart_Pancreatic_hormone-like,pfscan_Pancreatic_hormone-like,prints_Pancreatic_hormone-like pfam_Pancreatic_hormone-like,smart_Pancreatic_hormone-like,pfscan_Pancreatic_hormone-like,prints_Pancreatic_hormone-like - no_errors PPY HGNC ENSG00000108849 59 0 0.00 59 12 16.90 - - - PRRC2B 0 genome.wustl.edu 37 9 134358295 134358296 + Splice_Site DEL GT GT - TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 9 134358295 134358296 GT - DEL PRRC2B ENST00000357304 human ensembl 69_37n +1 known splice_site_del c.5373+1_5373+1 e21+1 1.000:1.000 - - - no_errors PRRC2B HGNC ENSG00000130723 25 0 0.00 26 3 10.00 - - - PRSS27 0 genome.wustl.edu 37 16 2762622 2762622 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 16 2762622 2762622 C T SNP PRSS27 ENST00000302641 human ensembl 69_37n -1 known silent c.872 p.*291 0.000 NULL pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 - no_errors PRSS27 HGNC ENSG00000172382 19 0 0.00 16 12 42.86 - - - PRSS27 0 genome.wustl.edu 37 16 2762726 2762726 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 16 2762726 2762726 C G SNP PRSS27 ENST00000302641 human ensembl 69_37n -1 known missense c.768 p.Q256H 0.001 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 - no_errors PRSS27 HGNC ENSG00000172382 16 0 0.00 14 15 51.72 - - - PRTG 0 genome.wustl.edu 37 15 55967747 55967747 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 15 55967747 55967747 C T SNP PRTG ENST00000389286 human ensembl 69_37n -1 known missense c.1516 p.D506N 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors PRTG HGNC ENSG00000166450 28 0 0.00 29 17 36.96 - - - PRUNE2 0 genome.wustl.edu 37 9 79267494 79267494 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 9 79267494 79267494 G C SNP PRUNE2 ENST00000428286 human ensembl 69_37n -1 known missense c.7385 p.S2462C 1.000 pfam_Bcl2-/adenovirus-E1B pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 62 0 0.00 85 33 27.97 - - - PRUNE2 0 genome.wustl.edu 37 9 79324579 79324579 + Missense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 9 79324579 79324579 C A SNP PRUNE2 ENST00000428286 human ensembl 69_37n -1 known missense c.1534 p.D512Y 0.663 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 57 0 0.00 85 36 29.75 - - - PSG9 0 genome.wustl.edu 37 19 43763217 43763217 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 19 43763217 43763217 G A SNP PSG9 ENST00000418820 human ensembl 69_37n -1 putative missense c.461 p.S154L 0.001 NULL pfam_Ig_V-set - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PSG9 HGNC ENSG00000183668 154 0 0.00 119 35 22.73 - - - PSMB5 0 genome.wustl.edu 37 14 23504012 23504012 + Missense_Mutation SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 14 23504012 23504012 G T SNP PSMB5 ENST00000361611 human ensembl 69_37n -1 known missense c.79 p.L27M 1.000 NULL pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB5 HGNC ENSG00000100804 18 0 0.00 12 11 47.83 - - - PSME4 0 genome.wustl.edu 37 2 54150229 54150229 + Silent SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 54150229 54150229 G C SNP PSME4 ENST00000404125 human ensembl 69_37n -1 known silent c.1935 p.L645 0.078 superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 38 0 0.00 61 30 32.97 - - - PTCHD1 0 genome.wustl.edu 37 X 23410824 23410824 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 23410824 23410824 G A SNP PTCHD1 ENST00000379361 human ensembl 69_37n +1 known missense c.1189 p.E397K 1.000 pfam_Patched,pfscan_SSD pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC ENSG00000165186 44 0 0.00 35 14 28.57 - - - PTEN 0 genome.wustl.edu 37 10 89720709 89720709 + Nonsense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 10 89720709 89720709 C G SNP PTEN ENST00000371953 human ensembl 69_37n +1 known nonsense c.860 p.S287* 1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 42 0 0.00 20 31 60.78 - - - PTPN12 0 genome.wustl.edu 37 7 77221500 77221501 + Splice_Site DEL AG AG - TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 77221500 77221501 AG - DEL PTPN12 ENST00000248594 human ensembl 69_37n +1 known splice_site_del c.421-2_421-1 e6-1 1.000:1.000 - - - no_errors PTPN12 HGNC ENSG00000127947 67 0 0.00 102 41 28.47 - - - PTPN12 0 genome.wustl.edu 37 7 77221500 77221501 + Splice_Site DEL AG AG - TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 77221500 77221501 AG 0 DEL PTPN12 ENST00000248594 human ensembl 69_37n +1 known splice_site_del c.421-2_421-1 e6-1 1.000:1.000 - - - no_errors PTPN12 HGNC ENSG00000127947 67 0 0 102 41 28.47 - - - PTPRA 0 genome.wustl.edu 37 20 2998481 2998481 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 20 2998481 2998481 G A SNP PTPRA ENST00000425918 human ensembl 69_37n +1 known silent c.996 p.V332 1.000 pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRA HGNC ENSG00000132670 49 0 0.00 74 14 15.73 - - - PTPRJ 0 genome.wustl.edu 37 11 48166619 48166619 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 11 48166619 48166619 G A SNP PTPRJ ENST00000418331 human ensembl 69_37n +1 known missense c.2854 p.E952K 0.196 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 72 0 0.00 28 23 44.23 - - - PXDNL 0 genome.wustl.edu 37 8 52252213 52252213 + Nonsense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 8 52252213 52252213 G A SNP PXDNL ENST00000356297 human ensembl 69_37n -1 known nonsense c.4117 p.Q1373* 0.838 NULL pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like - no_errors PXDNL HGNC ENSG00000147485 66 0 0.00 92 44 32.35 - - - QSER1 0 genome.wustl.edu 37 11 32954474 32954474 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 11 32954474 32954474 C G SNP QSER1 ENST00000399302 human ensembl 69_37n +1 known missense c.1283 p.S428C 1.000 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 27 0 0.00 21 22 51.16 - - - RAB11FIP3 0 genome.wustl.edu 37 16 511410 511410 + Missense_Mutation SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 16 511410 511410 G T SNP RAB11FIP3 ENST00000457159 human ensembl 69_37n +1 known missense c.721 p.D241Y 1.000 NULL pfam_Rab-bd_FIP-RBD,pfscan_EF_HAND_2 - no_errors RAB11FIP3 HGNC ENSG00000090565 25 0 0.00 53 9 14.52 - - - RAD9B 0 genome.wustl.edu 37 12 110957611 110957611 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 110957611 110957611 G C SNP RAD9B ENST00000392672 human ensembl 69_37n +1 known missense c.780 p.L260F 1.000 pfam_Rad9,pirsf_Cell_cycle_RAD9 pfam_Rad9,pirsf_Cell_cycle_RAD9 - no_errors RAD9B HGNC ENSG00000151164 105 0 0.00 115 24 17.27 - - - RALGAPB 0 genome.wustl.edu 37 20 37198601 37198601 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 20 37198601 37198601 G C SNP RALGAPB ENST00000262879 human ensembl 69_37n +1 known missense c.4025 p.R1342T 1.000 pfscan_Rap_GAP superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPB HGNC ENSG00000170471 58 0 0.00 54 13 19.40 - - - RAPGEF1 0 genome.wustl.edu 37 9 134463211 134463211 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 9 134463211 134463211 C T SNP RAPGEF1 ENST00000372190 human ensembl 69_37n -1 known missense c.2641 p.E881K 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF1 HGNC ENSG00000107263 63 0 0.00 52 29 35.80 - - - RASAL3 0 genome.wustl.edu 37 19 15563608 15563608 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 19 15563608 15563608 C G SNP RASAL3 ENST00000343625 human ensembl 69_37n -1 known missense c.2689 p.E897Q 0.982 NULL pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGAP,pfscan_RasGAP - no_errors RASAL3 HGNC ENSG00000105122 13 0 0.00 9 9 50.00 - - - RASSF5 0 genome.wustl.edu 37 1 206760244 206760244 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 206760244 206760244 G C SNP RASSF5 ENST00000355294 human ensembl 69_37n +1 known missense c.1191 p.K397N 1.000 pfscan_SARAH pfam_Ras-assoc,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors RASSF5 HGNC ENSG00000136653 46 0 0.00 150 24 13.79 - - - RBM17 0 genome.wustl.edu 37 10 6146916 6146916 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 10 6146916 6146916 C G SNP RBM17 ENST00000379888 human ensembl 69_37n +1 known missense c.263 p.S88C 1.000 pirsf_Splicing_factor_SPF45 pfam_G_patch_dom,smart_G_patch_dom,smart_RRM_dom_euk,pirsf_Splicing_factor_SPF45,pfscan_G_patch_dom - no_errors RBM17 HGNC ENSG00000134453 69 0 0.00 56 68 54.84 - - - RBM27 0 genome.wustl.edu 37 5 145610304 145610304 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 145610304 145610304 C G SNP RBM27 ENST00000265271 human ensembl 69_37n +1 known missense c.674 p.S225C 1.000 NULL pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 37 0 0.00 48 16 24.62 - - - RECQL4 0 genome.wustl.edu 37 8 145737119 145737119 + RNA SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 8 145737119 145737119 C A SNP RECQL4 ENST00000301323 human ensembl 69_37n -1 known rna NULL NULL 0.407 - - - no_errors RECQL4 HGNC ENSG00000160957 13 0 0.00 12 4 25.00 - - - RFC1 0 genome.wustl.edu 37 4 39322978 39322979 + Frame_Shift_Del DEL TC TC - TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 4 39322978 39322979 TC - DEL RFC1 ENST00000381897 human ensembl 69_37n -1 known frame_shift_del c.737_736 p.E246fs 1.000:0.998 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 98 0 0.00 109 26 19.12 - - - RFTN2 0 genome.wustl.edu 37 2 198540114 198540114 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 198540114 198540114 C T SNP RFTN2 ENST00000295049 human ensembl 69_37n -1 known silent c.69 p.L23 1.000 NULL NULL - no_errors RFTN2 HGNC ENSG00000162944 72 0 0.00 122 44 26.51 - - - RFWD3 0 genome.wustl.edu 37 16 74695104 74695104 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 16 74695104 74695104 C G SNP RFWD3 ENST00000361070 human ensembl 69_37n -1 known missense c.244 p.E82Q 0.371 NULL pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING - no_errors RFWD3 HGNC ENSG00000168411 43 0 0.00 30 8 21.05 - - - RIPK2 0 genome.wustl.edu 37 8 90802357 90802357 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 8 90802357 90802357 G C SNP RIPK2 ENST00000220751 human ensembl 69_37n +1 known missense c.1336 p.D446H 1.000 pfam_CARD,superfamily_DEATH-like,pirsf_Rcpt-int_Ser/Thr_kinase-2,pfscan_CARD pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CARD,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Rcpt-int_Ser/Thr_kinase-2,pfscan_CARD,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK2 HGNC ENSG00000104312 31 0 0.00 33 6 15.38 - - - RNF130 0 genome.wustl.edu 37 5 179405246 179405246 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 179405246 179405246 C G SNP RNF130 ENST00000521389 human ensembl 69_37n -1 known missense c.805 p.E269Q 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF130 HGNC ENSG00000113269 46 0 0.00 60 35 36.46 - - - RNF40 0 genome.wustl.edu 37 16 30778098 30778098 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 16 30778098 30778098 G C SNP RNF40 ENST00000324685 human ensembl 69_37n +1 known missense c.1330 p.E444Q 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC ENSG00000103549 21 0 0.00 28 16 36.36 - - - RNF6 0 genome.wustl.edu 37 13 26793747 26793747 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 13 26793747 26793747 C G SNP RNF6 ENST00000346166 human ensembl 69_37n -1 known missense c.40 p.E14Q 0.990 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF6 HGNC ENSG00000127870 73 0 0.00 30 51 62.96 - - - ROBO3 0 genome.wustl.edu 37 11 124739879 124739879 + Silent SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 11 124739879 124739879 C G SNP ROBO3 ENST00000397801 human ensembl 69_37n +1 known silent c.681 p.L227 0.137 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO3 HGNC ENSG00000154134 61 0 0.00 38 35 47.30 - - - RSPH6A 0 genome.wustl.edu 37 19 46307901 46307901 + Nonsense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 19 46307901 46307901 G C SNP RSPH6A ENST00000221538 human ensembl 69_37n -1 known nonsense c.1262 p.S421* 0.050 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH6A HGNC ENSG00000104941 38 0 0.00 21 6 22.22 - - - SAGE1 0 genome.wustl.edu 37 X 134993410 134993410 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 134993410 134993410 G C SNP SAGE1 ENST00000324447 human ensembl 69_37n +1 known missense c.2065 p.D689H 0.057 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 48 0 0.00 63 31 32.98 - - - SASS6 0 genome.wustl.edu 37 1 100550983 100550983 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 100550983 100550983 C T SNP SASS6 ENST00000287482 human ensembl 69_37n -1 known silent c.1875 p.Q625 1.000 NULL NULL - no_errors SASS6 HGNC ENSG00000156876 50 0 0.00 51 24 32.00 - - - SCAF4 0 genome.wustl.edu 37 21 33078619 33078619 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 21 33078619 33078619 G C SNP SCAF4 ENST00000286835 human ensembl 69_37n -1 known missense c.82 p.L28V 1.000 superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 21 0 0.00 50 29 36.71 - - - SCN8A 0 genome.wustl.edu 37 12 52093557 52093557 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 52093557 52093557 G C SNP SCN8A ENST00000354534 human ensembl 69_37n +1 known missense c.910 p.E304Q 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 45 0 0.00 32 10 23.81 - - - SCYL1 0 genome.wustl.edu 37 11 65293615 65293615 + Silent SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 11 65293615 65293615 C G SNP SCYL1 ENST00000270176 human ensembl 69_37n +1 known silent c.396 p.V132 0.995 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom - no_errors SCYL1 HGNC ENSG00000142186 20 0 0.00 14 5 26.32 - - - SEMA3C 0 genome.wustl.edu 37 7 80394494 80394494 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 80394494 80394494 G A SNP SEMA3C ENST00000544525 human ensembl 69_37n -1 known silent c.1474 p.L492 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Ig_I-set,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3C HGNC ENSG00000075223 34 0 0.00 48 14 22.58 - - - SERPINA1 0 genome.wustl.edu 37 14 94849257 94849257 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 14 94849257 94849257 G A SNP SERPINA1 ENST00000355814 human ensembl 69_37n -1 known silent c.318 p.F106 1.000 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINA1 HGNC ENSG00000197249 44 0 0.00 16 27 61.36 - - - SERPINE1 0 genome.wustl.edu 37 7 100773722 100773723 + Frame_Shift_Ins INS - - A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 100773722 100773723 - A INS SERPINE1 ENST00000223095 human ensembl 69_37n +1 known frame_shift_ins c.292_293 p.L98fs 0.984:0.986 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINE1 HGNC ENSG00000106366 16 0 0.00 23 8 25.81 - - - SETD1A 0 genome.wustl.edu 37 16 30977153 30977153 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 16 30977153 30977153 C G SNP SETD1A ENST00000262519 human ensembl 69_37n +1 known missense c.1951 p.P651A 1.000 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1A HGNC ENSG00000099381 10 0 0.00 3 4 57.14 - - - SETD3 0 genome.wustl.edu 37 14 99924822 99924822 + Missense_Mutation SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 14 99924822 99924822 G T SNP SETD3 ENST00000331768 human ensembl 69_37n -1 known missense c.469 p.L157M 0.996 pfam_SET_dom pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,superfamily_Rubisco_LSMT_subst-bd - no_errors SETD3 HGNC ENSG00000183576 59 0 0.00 40 32 44.44 - - - SF3B5 0 genome.wustl.edu 37 6 144416385 144416385 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 144416385 144416385 C G SNP SF3B5 ENST00000367569 human ensembl 69_37n -1 known missense c.250 p.E84Q 1.000 pirsf_Splicing_factor_3B_subunit_5 pfam_SF3b5/RDS3-10,pirsf_Splicing_factor_3B_subunit_5 - no_errors SF3B5 HGNC ENSG00000169976 47 0 0.00 38 6 13.64 - - - SGSM1 0 genome.wustl.edu 37 22 25315804 25315804 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 22 25315804 25315804 G A SNP SGSM1 ENST00000400359 human ensembl 69_37n +1 known missense c.3202 p.D1068N 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 34 0 0.00 37 10 20.83 - - - SGSM2 0 genome.wustl.edu 37 17 2280275 2280275 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 2280275 2280275 C T SNP SGSM2 ENST00000268989 human ensembl 69_37n +1 known silent c.2715 p.F905 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM2 HGNC ENSG00000141258 19 0 0.00 20 19 48.72 - - - SH2D5 0 genome.wustl.edu 37 1 21050165 21050165 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 21050165 21050165 C T SNP SH2D5 ENST00000444387 human ensembl 69_37n -1 known missense c.862 p.E288K 0.916 NULL pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_SH2 - no_errors SH2D5 HGNC ENSG00000189410 11 0 0.00 9 6 40.00 - - - SHC2 0 genome.wustl.edu 37 19 436390 436390 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 19 436390 436390 G C SNP SHC2 ENST00000264554 human ensembl 69_37n -1 known missense c.816 p.I272M 0.967 pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,prints_PID_domain,prints_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2 - no_errors SHC2 HGNC ENSG00000129946 11 0 0.00 4 8 66.67 - - - SHPRH 0 genome.wustl.edu 37 6 146264518 146264518 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 146264518 146264518 C T SNP SHPRH ENST00000367503 human ensembl 69_37n -1 known missense c.1999 p.D667N 1.000 superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Znf_PHD pfam_SNF2_N,pfam_Histone_H1/H5,superfamily_Znf_FYVE_PHD,superfamily_WW_Rsp5_WWP,smart_Helicase_ATP-bd,smart_Histone_H1/H5,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 33 0 0.00 33 15 30.61 - - - SIGLECL1 0 genome.wustl.edu 37 19 51768841 51768841 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 19 51768841 51768841 G A SNP SIGLECL1 ENST00000316401 human ensembl 69_37n +1 known missense c.242 p.R81K 0.000 NULL NULL - no_errors SIGLECL1 HGNC ENSG00000179213 38 0 0.00 16 4 20.00 - - - SLC12A5 0 genome.wustl.edu 37 20 44663663 44663663 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 20 44663663 44663663 G C SNP SLC12A5 ENST00000454036 human ensembl 69_37n +1 known missense c.198 p.K66N 1.000 prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 49 0 0.00 60 10 14.29 - - - SLC12A5 0 genome.wustl.edu 37 20 44681673 44681673 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 20 44681673 44681673 G C SNP SLC12A5 ENST00000454036 human ensembl 69_37n +1 known missense c.2524 p.E842Q 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 62 0 0.00 55 41 42.71 - - - SLC4A4 0 genome.wustl.edu 37 4 72205157 72205157 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 4 72205157 72205157 C T SNP SLC4A4 ENST00000425175 human ensembl 69_37n +1 known silent c.324 p.L108 1.000 superfamily_PTrfase/Anion_transptr pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 24 0 0.00 38 19 33.33 - - - SLITRK1 0 genome.wustl.edu 37 13 84454773 84454773 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 13 84454773 84454773 G A SNP SLITRK1 ENST00000377084 human ensembl 69_37n -1 known silent c.870 p.F290 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 64 0 0.00 111 79 41.58 - - - SLU7 0 genome.wustl.edu 37 5 159842242 159842242 + Missense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 159842242 159842242 C A SNP SLU7 ENST00000297151 human ensembl 69_37n -1 known missense c.60 p.M20I 1.000 NULL pfam_Slu7,superfamily_Znf_CCHC - no_errors SLU7 HGNC ENSG00000164609 76 0 0.00 87 70 44.30 - - - SMARCA1 0 genome.wustl.edu 37 X 128605204 128605204 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 128605204 128605204 C G SNP SMARCA1 ENST00000371122 human ensembl 69_37n -1 known missense c.2542 p.E848Q 1.000 pfam_ATPase_nucl-remodel_HAND-dom,superfamily_ATPase_nucl-remodel_HAND-dom pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA1 HGNC ENSG00000102038 114 0 0.00 173 52 23.11 - - - SMARCA2 0 genome.wustl.edu 37 9 2088583 2088583 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 9 2088583 2088583 G C SNP SMARCA2 ENST00000349721 human ensembl 69_37n +1 known missense c.2853 p.K951N 1.000 pfam_SNF2_N pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 34 0 0.00 25 21 45.65 - - - SMARCAD1 0 genome.wustl.edu 37 4 95173942 95173942 + Silent SNP T T G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 4 95173942 95173942 T G SNP SMARCAD1 ENST00000359052 human ensembl 69_37n +1 known silent c.1065 p.V355 0.001 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAD1 HGNC ENSG00000163104 36 0 0.00 35 20 36.36 - - - SMARCC2 0 genome.wustl.edu 37 12 56563682 56563682 + Missense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 56563682 56563682 C A SNP SMARCC2 ENST00000267064 human ensembl 69_37n -1 known missense c.2333 p.G778V 1.000 superfamily_Chromodomain-like pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 70 0 0.00 71 18 20.22 - - - SMARCC2 0 genome.wustl.edu 37 12 56567524 56567524 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 56567524 56567524 C T SNP SMARCC2 ENST00000267064 human ensembl 69_37n -1 known missense c.1606 p.D536N 1.000 superfamily_Chromodomain-like pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 32 0 0.00 24 7 21.88 - - - SMC5 0 genome.wustl.edu 37 9 72912969 72912969 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 9 72912969 72912969 G A SNP SMC5 ENST00000361138 human ensembl 69_37n +1 known missense c.1141 p.E381K 1.000 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC - no_errors SMC5 HGNC ENSG00000198887 45 0 0.00 49 11 18.33 - - - SMO 0 genome.wustl.edu 37 7 128850845 128850845 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 128850845 128850845 G A SNP SMO ENST00000249373 human ensembl 69_37n +1 known silent c.1692 p.K564 1.000 NULL pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors SMO HGNC ENSG00000128602 14 0 0.00 24 8 25.00 - - - SMPDL3A 0 genome.wustl.edu 37 6 123130485 123130485 + Missense_Mutation SNP A A G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 123130485 123130485 A G SNP SMPDL3A ENST00000368440 human ensembl 69_37n +1 known missense c.1294 p.I432V 1.000 pirsf_ASM-like_Pdiesterase_prd pfam_Metallo_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd - no_errors SMPDL3A HGNC ENSG00000172594 25 0 0.00 24 10 29.41 - - - SNCAIP 0 genome.wustl.edu 37 5 121786788 121786788 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 121786788 121786788 C G SNP SNCAIP ENST00000379533 human ensembl 69_37n +1 known missense c.2387 p.S796C 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SNCAIP HGNC ENSG00000064692 48 0 0.00 36 8 18.18 - - - SNORD19B 0 genome.wustl.edu 37 3 52724768 52724768 + RNA SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 52724768 52724768 G A SNP SNORD19B ENST00000459623 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors SNORD19B HGNC ENSG00000238862 16 0 0.00 18 25 56.82 - - - SNORD24 0 genome.wustl.edu 37 9 136216282 136216282 + RNA SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 9 136216282 136216282 G A SNP SNORD24 ENST00000383884 human ensembl 69_37n +1 known rna NULL NULL 0.802 - - - no_errors SNORD24 HGNC ENSG00000206611 13 0 0.00 11 9 45.00 - - - SNORD57 0 genome.wustl.edu 37 20 2637595 2637595 + RNA SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 20 2637595 2637595 G C SNP SNORD57 ENST00000384532 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors SNORD57 RFAM ENSG00000207262 61 0 0.00 49 42 46.15 - - - SNX7 0 genome.wustl.edu 37 1 99150551 99150551 + Missense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 99150551 99150551 C A SNP SNX7 ENST00000306121 human ensembl 69_37n +1 known missense c.291 p.F97L 1.000 superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX7 HGNC ENSG00000162627 44 0 0.00 46 17 26.98 - - - SON 0 genome.wustl.edu 37 21 34922706 34922706 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 21 34922706 34922706 C G SNP SON ENST00000356577 human ensembl 69_37n +1 known missense c.1169 p.S390C 0.997 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_Ds-RNA-bd - no_errors SON HGNC ENSG00000159140 31 0 0.00 20 19 48.72 - - - SORD 0 genome.wustl.edu 37 15 45353336 45353336 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 15 45353336 45353336 C T SNP SORD ENST00000267814 human ensembl 69_37n +1 known silent c.337 p.L113 1.000 pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors SORD HGNC ENSG00000140263 63 0 0.00 63 24 27.59 - - - SOX5 0 genome.wustl.edu 37 12 23728679 23728679 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 23728679 23728679 G A SNP SOX5 ENST00000451604 human ensembl 69_37n -1 known silent c.1258 p.L420 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX5 HGNC ENSG00000134532 106 0 0.00 100 19 15.97 - - - SPATA17 0 genome.wustl.edu 37 1 217947774 217947774 + Silent SNP T T G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 217947774 217947774 T G SNP SPATA17 ENST00000366933 human ensembl 69_37n +1 known silent c.618 p.V206 0.000 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors SPATA17 HGNC ENSG00000162814 37 0 0.00 32 17 34.69 - - - SPDYA 0 genome.wustl.edu 37 2 29063329 29063329 + Missense_Mutation SNP T T C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 29063329 29063329 T C SNP SPDYA ENST00000334056 human ensembl 69_37n +1 known missense c.844 p.S282P 0.884 NULL pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYA HGNC ENSG00000163806 22 0 0.00 43 13 23.21 - - - SPG20 0 genome.wustl.edu 37 13 36903599 36903599 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 13 36903599 36903599 C G SNP SPG20 ENST00000355182 human ensembl 69_37n -1 known missense c.1064 p.R355T 0.062 NULL pfam_Senescence/spartin,pfam_MIT,smart_MIT - no_errors SPG20 HGNC ENSG00000133104 106 0 0.00 82 81 49.69 - - - SPICE1 0 genome.wustl.edu 37 3 113225375 113225375 + Silent SNP A A C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 113225375 113225375 A C SNP SPICE1 ENST00000295872 human ensembl 69_37n -1 known silent c.78 p.T26 0.003 NULL NULL - no_errors SPICE1 HGNC ENSG00000163611 87 0 0.00 96 66 40.74 - - - SPINK5 0 genome.wustl.edu 37 5 147475426 147475426 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 147475426 147475426 G A SNP SPINK5 ENST00000359874 human ensembl 69_37n +1 known silent c.840 p.L280 0.002 NULL pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal - no_errors SPINK5 HGNC ENSG00000133710 49 0 0.00 39 9 18.75 - - - SPTA1 0 genome.wustl.edu 37 1 158585180 158585180 + Missense_Mutation SNP T T C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 158585180 158585180 T C SNP SPTA1 ENST00000368148 human ensembl 69_37n -1 known missense c.6614 p.E2205G 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 24 0 0.00 52 8 13.11 - - - SRCAP 0 genome.wustl.edu 37 16 30744708 30744708 + Missense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 16 30744708 30744708 C A SNP SRCAP ENST00000262518 human ensembl 69_37n +1 known missense c.6235 p.L2079I 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 36 0 0.00 68 10 12.82 - - - SREBF2 0 genome.wustl.edu 37 22 42290843 42290843 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 22 42290843 42290843 C T SNP SREBF2 ENST00000361204 human ensembl 69_37n +1 known silent c.2397 p.V799 0.344 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors SREBF2 HGNC ENSG00000198911 17 0 0.00 19 9 32.14 - - - SRFBP1 0 genome.wustl.edu 37 5 121356179 121356179 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 121356179 121356179 G A SNP SRFBP1 ENST00000339397 human ensembl 69_37n +1 known missense c.749 p.G250E 0.073 NULL pfam_Bud-site_select_BUD22 - no_errors SRFBP1 HGNC ENSG00000151304 20 0 0.00 25 8 24.24 - - - SSNA1 0 genome.wustl.edu 37 9 140083571 140083571 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 9 140083571 140083571 G C SNP SSNA1 ENST00000322310 human ensembl 69_37n +1 known missense c.106 p.E36Q 1.000 NULL NULL - no_errors SSNA1 HGNC ENSG00000176101 10 0 0.00 6 6 50.00 - - - SSX2IP 0 genome.wustl.edu 37 1 85135517 85135517 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 85135517 85135517 C G SNP SSX2IP ENST00000342203 human ensembl 69_37n -1 known missense c.273 p.K91N 1.000 pfam_Afadin/alpha-actinin-bd pfam_Afadin/alpha-actinin-bd - no_errors SSX2IP HGNC ENSG00000117155 98 0 0.00 142 27 15.98 - - - STS 0 genome.wustl.edu 37 X 7223129 7223129 + Missense_Mutation SNP A A T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 7223129 7223129 A T SNP STS ENST00000217961 human ensembl 69_37n +1 known missense c.1001 p.D334V 0.050 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors STS HGNC ENSG00000101846 60 0 0.00 90 20 18.18 - - - STX4 0 genome.wustl.edu 37 16 31045418 31045418 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 16 31045418 31045418 G A SNP STX4 ENST00000313843 human ensembl 69_37n +1 known missense c.115 p.E39K 1.000 pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX4 HGNC ENSG00000103496 22 0 0.00 15 21 58.33 - - - STX6 0 genome.wustl.edu 37 1 180974600 180974600 + Splice_Site SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 180974600 180974600 C G SNP STX6 ENST00000258301 human ensembl 69_37n -1 known splice_site c.36-1 e2-1 1.000 - - - no_errors STX6 HGNC ENSG00000135823 58 0 0.00 96 47 32.64 - - - SUSD4 0 genome.wustl.edu 37 1 223438151 223438151 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 223438151 223438151 C G SNP SUSD4 ENST00000343846 human ensembl 69_37n -1 known missense c.545 p.R182T 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors SUSD4 HGNC ENSG00000143502 29 0 0.00 13 23 62.16 - - - SYDE2 0 genome.wustl.edu 37 1 85647955 85647955 + Silent SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 85647955 85647955 C G SNP SYDE2 ENST00000341460 human ensembl 69_37n -1 known silent c.2370 p.V790 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE2 HGNC ENSG00000097096 51 0 0.00 48 40 44.94 - - - SYNE2 0 genome.wustl.edu 37 14 64687251 64687251 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 14 64687251 64687251 G C SNP SYNE2 ENST00000358025 human ensembl 69_37n +1 known missense c.19957 p.E6653Q 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 15 0 0.00 12 11 47.83 - - - SYT11 0 genome.wustl.edu 37 1 155851240 155851240 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 155851240 155851240 G A SNP SYT11 ENST00000368324 human ensembl 69_37n +1 known missense c.1237 p.E413K 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin - no_errors SYT11 HGNC ENSG00000132718 21 0 0.00 22 18 45.00 - - - TAF7L 0 genome.wustl.edu 37 X 100538494 100538494 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 100538494 100538494 C G SNP TAF7L ENST00000372907 human ensembl 69_37n -1 known missense c.481 p.E161Q 0.968 pfam_TAFII55_prot_cons_reg pfam_TAFII55_prot_cons_reg - no_errors TAF7L HGNC ENSG00000102387 54 0 0.00 61 35 36.08 - - - TAS2R38 0 genome.wustl.edu 37 7 141673190 141673190 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 141673190 141673190 C T SNP TAS2R38 ENST00000547270 human ensembl 69_37n -1 known missense c.300 p.M100I 0.496 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R38 HGNC ENSG00000257138 41 0 0.00 32 16 33.33 - - - TAS2R41 0 genome.wustl.edu 37 7 143175673 143175673 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 143175673 143175673 C T SNP TAS2R41 ENST00000408916 human ensembl 69_37n +1 known silent c.708 p.L236 0.234 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R41 HGNC ENSG00000221855 43 0 0.00 52 23 30.67 - - - TBC1D13 0 genome.wustl.edu 37 9 131566358 131566358 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 9 131566358 131566358 C T SNP TBC1D13 ENST00000372648 human ensembl 69_37n +1 known missense c.878 p.S293F 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D13 HGNC ENSG00000107021 29 0 0.00 30 9 23.08 - - - TBC1D4 0 genome.wustl.edu 37 13 75876479 75876479 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 13 75876479 75876479 G A SNP TBC1D4 ENST00000377636 human ensembl 69_37n -1 known silent c.2811 p.L937 0.005 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 64 0 0.00 142 42 22.70 - - - TBCD 0 genome.wustl.edu 37 17 80714070 80714070 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 80714070 80714070 C G SNP TBCD ENST00000355528 human ensembl 69_37n +1 known missense c.214 p.H72D 1.000 superfamily_ARM-type_fold pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold - no_errors TBCD HGNC ENSG00000141556 85 0 0.00 79 48 37.80 - - - TBL3 0 genome.wustl.edu 37 16 2025431 2025431 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 16 2025431 2025431 G C SNP TBL3 ENST00000568546 human ensembl 69_37n +1 known missense c.797 p.G266A 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL3 HGNC ENSG00000183751 47 0 0.00 41 12 22.64 - - - TCF7L2 0 genome.wustl.edu 37 10 114918464 114918464 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 10 114918464 114918464 C T SNP TCF7L2 ENST00000355995 human ensembl 69_37n +1 known missense c.1357 p.P453S 1.000 NULL pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TCF7L2 HGNC ENSG00000148737 78 0 0.00 79 60 42.86 - - - TDRD10 0 genome.wustl.edu 37 1 154516499 154516499 + Silent SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 154516499 154516499 C G SNP TDRD10 ENST00000368480 human ensembl 69_37n +1 known silent c.564 p.L188 0.004 NULL pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TDRD10 HGNC ENSG00000163239 70 0 0.00 65 29 30.53 - - - TEC 0 genome.wustl.edu 37 4 48147487 48147487 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 4 48147487 48147487 G C SNP TEC ENST00000381501 human ensembl 69_37n -1 known missense c.1191 p.I397M 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_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_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom - no_errors TEC HGNC ENSG00000135605 62 0 0.00 56 8 12.50 - - - TEFM 0 genome.wustl.edu 37 17 29226406 29226406 + Missense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 29226406 29226406 C A SNP TEFM ENST00000581216 human ensembl 69_37n -1 known missense c.864 p.M288I 1.000 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom - no_errors TEFM HGNC ENSG00000172171 37 0 0.00 38 38 50.00 - - - TELO2 0 genome.wustl.edu 37 16 1544312 1544312 + Silent SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 16 1544312 1544312 C A SNP TELO2 ENST00000262319 human ensembl 69_37n +1 known silent c.30 p.L10 0.000 NULL pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold - no_errors TELO2 HGNC ENSG00000100726 17 0 0.00 9 9 50.00 - - - TERT 0 genome.wustl.edu 37 5 1293843 1293843 + Nonsense_Mutation SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 1293843 1293843 G T SNP TERT ENST00000310581 human ensembl 69_37n -1 known nonsense c.1158 p.Y386* 0.994 NULL pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,prints_Telomerase_RT,pfscan_RVT - no_errors TERT HGNC ENSG00000164362 9 0 0.00 12 7 36.84 - - - TEX11 0 genome.wustl.edu 37 X 69898656 69898656 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 69898656 69898656 C T SNP TEX11 ENST00000344304 human ensembl 69_37n -1 known missense c.1285 p.E429K 0.999 pfam_Meiosis_specific_SPO22,smart_TPR_repeat pfam_Meiosis_specific_SPO22,smart_TPR_repeat - no_errors TEX11 HGNC ENSG00000120498 90 0 0.00 126 28 18.18 - - - TFCP2 0 genome.wustl.edu 37 12 51512435 51512435 + Silent SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 51512435 51512435 G C SNP TFCP2 ENST00000257915 human ensembl 69_37n -1 known silent c.243 p.L81 0.997 pfam_CP2 pfam_CP2,superfamily_SAM/pointed - no_errors TFCP2 HGNC ENSG00000135457 65 0 0.00 69 12 14.81 - - - TGM7 0 genome.wustl.edu 37 15 43574073 43574073 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 15 43574073 43574073 C G SNP TGM7 ENST00000452443 human ensembl 69_37n -1 known missense c.1320 p.Q440H 0.962 NULL pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM7 HGNC ENSG00000159495 27 0 0.00 32 19 37.25 - - - THADA 0 genome.wustl.edu 37 2 43813569 43813569 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 43813569 43813569 C G SNP THADA ENST00000405006 human ensembl 69_37n -1 known missense c.504 p.K168N 1.000 NULL pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC ENSG00000115970 50 0 0.00 98 32 24.43 - - - THOC5 0 genome.wustl.edu 37 22 29932688 29932688 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 22 29932688 29932688 C G SNP THOC5 ENST00000397871 human ensembl 69_37n -1 known missense c.639 p.E213D 1.000 pfam_THO_Thoc5 pfam_THO_Thoc5 - no_errors THOC5 HGNC ENSG00000100296 68 0 0.00 52 26 33.33 - - - TICAM2 0 genome.wustl.edu 37 5 114956158 114956158 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 114956158 114956158 C T SNP TICAM2 ENST00000408996 human ensembl 69_37n -1 known missense c.412 p.E138K 1.000 pfam_GOLD,superfamily_GOLD pfam_GOLD,pfam_TIR_dom,superfamily_GOLD,superfamily_TIR_dom,pfscan_GOLD,pfscan_TIR_dom - no_errors TICAM2 HGNC ENSG00000243414 41 0 0.00 45 14 23.73 - - - TLN2 0 genome.wustl.edu 37 15 63053955 63053955 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 15 63053955 63053955 G A SNP TLN2 ENST00000306829 human ensembl 69_37n +1 known missense c.4714 p.E1572K 1.000 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_ILWEQ,pfam_Vinculin-bd_dom,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 TLN2 HGNC ENSG00000171914 40 0 0.00 42 19 31.15 - - - TM9SF4 0 genome.wustl.edu 37 20 30733156 30733156 + Silent SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 20 30733156 30733156 G T SNP TM9SF4 ENST00000398022 human ensembl 69_37n +1 known silent c.813 p.L271 0.930 pfam_EMP70 pfam_EMP70 - no_errors TM9SF4 HGNC ENSG00000101337 80 0 0.00 84 22 20.75 - - - TMEM104 0 genome.wustl.edu 37 17 72832298 72832298 + Silent SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 72832298 72832298 C G SNP TMEM104 ENST00000335464 human ensembl 69_37n +1 known silent c.963 p.L321 0.994 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors TMEM104 HGNC ENSG00000109066 47 0 0.00 31 12 27.91 - - - TMEM117 0 genome.wustl.edu 37 12 44693420 44693420 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 44693420 44693420 C T SNP TMEM117 ENST00000266534 human ensembl 69_37n +1 known silent c.666 p.I222 1.000 NULL NULL - no_errors TMEM117 HGNC ENSG00000139173 114 0 0.00 97 63 39.13 - - - TMEM126A 0 genome.wustl.edu 37 11 85365293 85365293 + Missense_Mutation SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 11 85365293 85365293 G T SNP TMEM126A ENST00000304511 human ensembl 69_37n +1 known missense c.273 p.L91F 0.994 pfam_DUF1370_TMEM126 pfam_DUF1370_TMEM126 - no_errors TMEM126A HGNC ENSG00000171202 31 0 0.00 21 28 57.14 - - - TMEM145 0 genome.wustl.edu 37 19 42820839 42820839 + Missense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 19 42820839 42820839 C A SNP TMEM145 ENST00000301204 human ensembl 69_37n +1 known missense c.753 p.F251L 1.000 pfam_Rhodopsin-like_GPCR_TM_domain pfam_Rhodopsin-like_GPCR_TM_domain - no_errors TMEM145 HGNC ENSG00000167619 39 0 0.00 37 13 26.00 - - - TMEM192 0 genome.wustl.edu 37 4 166024129 166024129 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 4 166024129 166024129 G C SNP TMEM192 ENST00000306480 human ensembl 69_37n -1 known missense c.147 p.I49M 0.997 NULL NULL - no_errors TMEM192 HGNC ENSG00000170088 76 0 0.00 47 51 52.04 - - - TMEM207 0 genome.wustl.edu 37 3 190167527 190167527 + Missense_Mutation SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 190167527 190167527 G T SNP TMEM207 ENST00000354905 human ensembl 69_37n -1 known missense c.72 p.F24L 1.000 NULL NULL - no_errors TMEM207 HGNC ENSG00000198398 33 0 0.00 49 17 25.37 - - - TMEM65 0 genome.wustl.edu 37 8 125326227 125326227 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 8 125326227 125326227 C G SNP TMEM65 ENST00000297632 human ensembl 69_37n -1 known missense c.697 p.D233H 1.000 NULL pfam_Transmembrane_protein_65 - no_errors TMEM65 HGNC ENSG00000164983 69 0 0.00 55 41 41.84 - - - TMEM68 0 genome.wustl.edu 37 8 56668876 56668876 + Nonsense_Mutation SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 8 56668876 56668876 G T SNP TMEM68 ENST00000520061 human ensembl 69_37n -1 known nonsense c.236 p.S79* 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TMEM68 HGNC ENSG00000167904 26 0 0.00 55 10 15.38 - - - TMX3 0 genome.wustl.edu 37 18 66344394 66344394 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 18 66344394 66344394 G A SNP TMX3 ENST00000299608 human ensembl 69_37n -1 known missense c.1141 p.L381F 1.000 NULL pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors TMX3 HGNC ENSG00000166479 60 0 0.00 37 22 37.29 - - - TNRC6C 0 genome.wustl.edu 37 17 76045561 76045561 + Missense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 76045561 76045561 C A SNP TNRC6C ENST00000335749 human ensembl 69_37n +1 known missense c.418 p.Q140K 1.000 NULL pfam_Argonaute_hook_dom,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 17 0 0.00 26 11 29.73 - - - TNXB 0 genome.wustl.edu 37 6 32049445 32049445 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 32049445 32049445 C G SNP TNXB ENST00000375247 human ensembl 69_37n -1 known missense c.3742 p.E1248Q 0.011 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 17 0 0.00 13 9 40.91 - - - TOMM7 0 genome.wustl.edu 37 7 22852775 22852775 + Missense_Mutation SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 22852775 22852775 G T SNP TOMM7 ENST00000372879 human ensembl 69_37n -1 putative missense c.319 p.L107I 0.927 NULL pfam_Tom7 - no_errors TOMM7 HGNC ENSG00000196683 29 0 0.00 44 13 22.41 - - - TOP2B 0 genome.wustl.edu 37 3 25656736 25656736 + Missense_Mutation SNP A A C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 25656736 25656736 A C SNP TOP2B ENST00000264331 human ensembl 69_37n -1 known missense c.3551 p.L1184R 1.000 pfam_Topo_IIA_A/C,superfamily_Topo_IIA_cen,smart_Topo_IIA_A/C pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_ATPase-like_ATP-bd,superfamily_Topo_IIA_cen,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_CBFA/NFYB_topo - no_errors TOP2B HGNC ENSG00000077097 23 0 0.00 28 15 34.88 - - - TOR1B 0 genome.wustl.edu 37 9 132566431 132566431 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 9 132566431 132566431 C T SNP TOR1B ENST00000427860 human ensembl 69_37n +1 known missense c.224 p.S75L 1.000 pfam_Torsin pfam_Torsin - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TOR1B HGNC ENSG00000136816 36 0 0.00 40 23 36.51 - - - TP63 0 genome.wustl.edu 37 3 189604231 189604231 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 189604231 189604231 G A SNP TP63 ENST00000264731 human ensembl 69_37n +1 known silent c.1398 p.L466 1.000 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP63 HGNC ENSG00000073282 52 0 0.00 53 27 33.33 - - - TPM1 0 genome.wustl.edu 37 15 63354780 63354780 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 15 63354780 63354780 G C SNP TPM1 ENST00000267996 human ensembl 69_37n +1 known missense c.708 p.E236D 1.000 pfam_Tropomyosin,prints_Tropomyosin pfam_Tropomyosin,prints_Tropomyosin - no_errors TPM1 HGNC ENSG00000140416 44 0 0.00 49 15 23.08 - - - TPSB2 0 genome.wustl.edu 37 16 1278690 1278690 + Missense_Mutation SNP T T A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 16 1278690 1278690 T A SNP TPSB2 ENST00000430512 human ensembl 69_37n -1 known missense c.785 p.Y262F 0.242 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TPSB2 HGNC ENSG00000197253 56 0 0.00 43 6 12.00 - - - TRA2B 0 genome.wustl.edu 37 3 185643399 185643399 + Missense_Mutation SNP T T G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 185643399 185643399 T G SNP TRA2B ENST00000453386 human ensembl 69_37n -1 known missense c.186 p.R62S 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TRA2B HGNC ENSG00000136527 43 0 0.00 70 28 28.57 - - - TRAF3 0 genome.wustl.edu 37 14 103352554 103352554 + Missense_Mutation SNP T T C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 14 103352554 103352554 T C SNP TRAF3 ENST00000392745 human ensembl 69_37n +1 known missense c.599 p.V200A 1.000 superfamily_TRAF-like,pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_TRAF pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF3 HGNC ENSG00000131323 28 0 0.00 15 10 40.00 - - - TRAF4 0 genome.wustl.edu 37 17 27076323 27076323 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 27076323 27076323 C T SNP TRAF4 ENST00000262395 human ensembl 69_37n +1 known missense c.1141 p.P381S 1.000 pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF4 HGNC ENSG00000076604 22 0 0.00 34 8 19.05 - - - TRAF4 0 genome.wustl.edu 37 17 27076377 27076377 + Missense_Mutation SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 27076377 27076377 G T SNP TRAF4 ENST00000262395 human ensembl 69_37n +1 known missense c.1195 p.A399S 1.000 pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF4 HGNC ENSG00000076604 23 0 0.00 32 9 21.95 - - - TRAPPC10 0 genome.wustl.edu 37 21 45514103 45514103 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 21 45514103 45514103 G A SNP TRAPPC10 ENST00000291574 human ensembl 69_37n +1 known missense c.3157 p.E1053K 1.000 NULL NULL - no_errors TRAPPC10 HGNC ENSG00000160218 44 0 0.00 56 11 16.18 - - - TRGV1 0 genome.wustl.edu 37 7 38407414 38407414 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 38407414 38407414 C T SNP TRGV1 ENST00000390348 human ensembl 69_37n -1 known missense c.124 p.D42N 0.301 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon TRGV1 HGNC ENSG00000211701 35 0 0.00 43 25 36.76 - - - TRIM23 0 genome.wustl.edu 37 5 64892900 64892900 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 64892900 64892900 G A SNP TRIM23 ENST00000231524 human ensembl 69_37n -1 known silent c.1287 p.F429 0.999 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom 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 38 0 0.00 45 9 16.67 - - - TRIM36 0 genome.wustl.edu 37 5 114462415 114462416 + Frame_Shift_Del DEL TA TA - TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 TA TA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 114462415 114462416 TA - DEL TRIM36 ENST00000282369 human ensembl 69_37n -1 known frame_shift_del c.1972_1971 p.N657fs 0.089:0.027 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_Znf_B-box,pfam_Fibronectin_type3,pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM36 HGNC ENSG00000152503 57 0 0.00 67 11 14.10 - - - TRIM55 0 genome.wustl.edu 37 8 67062075 67062075 + Nonsense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 8 67062075 67062075 C T SNP TRIM55 ENST00000315962 human ensembl 69_37n +1 known nonsense c.799 p.Q267* 1.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM55 HGNC ENSG00000147573 64 0 0.00 87 21 19.44 - - - TRIM69 0 genome.wustl.edu 37 15 45047337 45047337 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 15 45047337 45047337 G A SNP TRIM69 ENST00000329464 human ensembl 69_37n +1 known silent c.246 p.K82 0.070 pfscan_Znf_RING pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM69 HGNC ENSG00000185880 40 0 0.00 37 28 43.08 - - - TRIM73 0 genome.wustl.edu 37 7 75034314 75034314 + Nonsense_Mutation SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 75034314 75034314 G T SNP TRIM73 ENST00000323819 human ensembl 69_37n +1 known nonsense c.688 p.E230* 1.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM73 HGNC ENSG00000178809 89 0 0.00 103 66 39.05 - - - TRPC1 0 genome.wustl.edu 37 3 142499689 142499689 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 142499689 142499689 G A SNP TRPC1 ENST00000476941 human ensembl 69_37n +1 known missense c.778 p.E260K 1.000 tigrfam_TRP_channel pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC1 HGNC ENSG00000144935 41 0 0.00 30 51 62.96 - - - TRPC5 0 genome.wustl.edu 37 X 111155634 111155634 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 111155634 111155634 G A SNP TRPC5 ENST00000262839 human ensembl 69_37n -1 known missense c.785 p.S262F 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 50 0 0.00 55 17 23.61 - - - TRPC7 0 genome.wustl.edu 37 5 135583271 135583271 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 135583271 135583271 C G SNP TRPC7 ENST00000513104 human ensembl 69_37n -1 known missense c.1732 p.D578H 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC7 HGNC ENSG00000069018 34 0 0.00 35 15 30.00 - - - TRPM5 0 genome.wustl.edu 37 11 2432929 2432929 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 11 2432929 2432929 C T SNP TRPM5 ENST00000452833 human ensembl 69_37n -1 known missense c.2549 p.R850Q 0.983 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors TRPM5 HGNC ENSG00000070985 23 0 0.00 22 8 26.67 - - - TRPM7 0 genome.wustl.edu 37 15 50905027 50905027 + Splice_Site SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 15 50905027 50905027 C T SNP TRPM7 ENST00000313478 human ensembl 69_37n -1 known splice_site c.1771-1 e16-1 0.999 - - - no_errors TRPM7 HGNC ENSG00000092439 61 0 0.00 58 32 35.56 - - - TRPV4 0 genome.wustl.edu 37 12 110230226 110230226 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 110230226 110230226 G A SNP TRPV4 ENST00000261740 human ensembl 69_37n -1 known silent c.1833 p.F611 1.000 pfam_Ion_trans_dom,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel - no_errors TRPV4 HGNC ENSG00000111199 24 0 0.00 22 7 24.14 - - - TRPV5 0 genome.wustl.edu 37 7 142625939 142625939 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 142625939 142625939 G A SNP TRPV5 ENST00000265310 human ensembl 69_37n -1 known silent c.609 p.L203 0.997 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,prints_TRPV5_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV5 HGNC ENSG00000127412 135 0 0.00 153 70 31.39 - - - TSPYL4 0 genome.wustl.edu 37 6 116574421 116574421 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 116574421 116574421 G A SNP TSPYL4 ENST00000420283 human ensembl 69_37n -1 known missense c.751 p.P251S 1.000 pfam_NAP_family pfam_NAP_family - no_errors TSPYL4 HGNC ENSG00000187189 41 0 0.00 29 8 21.62 - - - TSR1 0 genome.wustl.edu 37 17 2235463 2235463 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 2235463 2235463 C T SNP TSR1 ENST00000301364 human ensembl 69_37n -1 known missense c.1496 p.R499Q 1.000 pfam_BMS1_TSR1_C pfam_BMS1_TSR1_C,pfam_AARP2CN,superfamily_Transl_elong_init/rib_B-barrel,smart_AARP2CN - no_errors TSR1 HGNC ENSG00000167721 52 0 0.00 18 36 66.67 - - - TTBK1 0 genome.wustl.edu 37 6 43230780 43230780 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 43230780 43230780 G A SNP TTBK1 ENST00000259750 human ensembl 69_37n +1 known missense c.1678 p.E560K 0.996 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 TTBK1 HGNC ENSG00000146216 19 0 0.00 9 5 35.71 - - - TTC3 0 genome.wustl.edu 37 21 38538313 38538313 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 21 38538313 38538313 C G SNP TTC3 ENST00000354749 human ensembl 69_37n +1 known missense c.3797 p.S1266C 0.007 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 31 0 0.00 43 12 21.82 - - - TTC39A 0 genome.wustl.edu 37 1 51760099 51760099 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 51760099 51760099 G C SNP TTC39A ENST00000447632 human ensembl 69_37n -1 known missense c.1338 p.F446L 0.655 pfam_OMP_IML2_mit/TPR_39 pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39A HGNC ENSG00000085831 28 0 0.00 25 12 32.43 - - - TTC40 0 genome.wustl.edu 37 10 134660491 134660491 + Missense_Mutation SNP T T A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 10 134660491 134660491 T A SNP TTC40 ENST00000263170 human ensembl 69_37n -1 known missense c.695 p.E232V 0.963 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 21 0 0.00 9 9 50.00 - - - TTN 0 genome.wustl.edu 37 2 179407856 179407856 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 179407856 179407856 C G SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.89140 p.E29714Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 51 0 0.00 60 22 26.83 - - - TTN 0 genome.wustl.edu 37 2 179615969 179615969 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 179615969 179615969 G A SNP TTN ENST00000360870 human ensembl 69_37n -1 known missense c.11158 p.L3720F 0.001 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 31 0 0.00 41 21 33.87 - - - TUBGCP3 0 genome.wustl.edu 37 13 113223531 113223531 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 13 113223531 113223531 C T SNP TUBGCP3 ENST00000261965 human ensembl 69_37n -1 known missense c.119 p.G40D 1.000 NULL pfam_Spc97_Spc98 - no_errors TUBGCP3 HGNC ENSG00000126216 58 0 0.00 56 43 43.43 - - - TUBGCP6 0 genome.wustl.edu 37 22 50659211 50659211 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 22 50659211 50659211 C G SNP TUBGCP6 ENST00000248846 human ensembl 69_37n -1 known missense c.3577 p.D1193H 0.029 pfam_Spc97_Spc98 pfam_Spc97_Spc98 - no_errors TUBGCP6 HGNC ENSG00000128159 32 0 0.00 12 6 33.33 - - - TXNDC16 0 genome.wustl.edu 37 14 52978104 52978104 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 14 52978104 52978104 C T SNP TXNDC16 ENST00000281741 human ensembl 69_37n -1 known missense c.610 p.E204K 0.384 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC16 HGNC ENSG00000087301 38 0 0.00 28 28 49.12 - - - UACA 0 genome.wustl.edu 37 15 70959543 70959543 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 15 70959543 70959543 C G SNP UACA ENST00000322954 human ensembl 69_37n -1 known missense c.3480 p.K1160N 0.616 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 67 0 0.00 85 14 13.86 - - - UBA6 0 genome.wustl.edu 37 4 68511732 68511732 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 4 68511732 68511732 C T SNP UBA6 ENST00000322244 human ensembl 69_37n -1 known missense c.1319 p.G440E 1.000 superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA6 HGNC ENSG00000033178 30 0 0.00 34 17 33.33 - - - UBASH3A 0 genome.wustl.edu 37 21 43862645 43862645 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 21 43862645 43862645 C T SNP UBASH3A ENST00000319294 human ensembl 69_37n +1 known missense c.1570 p.P524S 0.248 pfam_His_Pase_superF_clade-1 pfam_His_Pase_superF_clade-1,pfam_SH3_domain,superfamily_SH3_domain,superfamily_UBA-like,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBASH3A HGNC ENSG00000160185 53 0 0.00 60 32 34.78 - - - UBE2Q1 0 genome.wustl.edu 37 1 154527994 154527994 + Silent SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 154527994 154527994 C G SNP UBE2Q1 ENST00000292211 human ensembl 69_37n -1 known silent c.447 p.L149 1.000 superfamily_UBQ-conjugating_enzyme/RWD pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2Q1 HGNC ENSG00000160714 34 0 0.00 37 38 50.67 - - - UBR1 0 genome.wustl.edu 37 15 43269025 43269025 + Missense_Mutation SNP T T A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 15 43269025 43269025 T A SNP UBR1 ENST00000290650 human ensembl 69_37n -1 known missense c.4259 p.D1420V 0.998 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR1 HGNC ENSG00000159459 27 0 0.00 31 17 34.69 - - - UBR1 0 genome.wustl.edu 37 15 43269026 43269026 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 15 43269026 43269026 C T SNP UBR1 ENST00000290650 human ensembl 69_37n -1 known missense c.4258 p.D1420N 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR1 HGNC ENSG00000159459 27 0 0.00 32 17 34.69 - - - UBR2 0 genome.wustl.edu 37 6 42644559 42644559 + Nonsense_Mutation SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 42644559 42644559 G T SNP UBR2 ENST00000372899 human ensembl 69_37n +1 known nonsense c.4426 p.E1476* 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC ENSG00000024048 49 0 0.00 49 20 28.99 - - - UBR5 0 genome.wustl.edu 37 8 103307462 103307462 + Missense_Mutation SNP A A T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 8 103307462 103307462 A T SNP UBR5 ENST00000520539 human ensembl 69_37n -1 known missense c.4028 p.I1343N 1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 52 0 0.00 73 18 19.78 - - - UGP2 0 genome.wustl.edu 37 2 64084985 64084985 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 64084985 64084985 G A SNP UGP2 ENST00000337130 human ensembl 69_37n +1 known missense c.170 p.G57E 1.000 pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr - no_errors UGP2 HGNC ENSG00000169764 43 0 0.00 51 36 41.38 - - - UNC93A 0 genome.wustl.edu 37 6 167721350 167721350 + Missense_Mutation SNP T T A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 167721350 167721350 T A SNP UNC93A ENST00000230256 human ensembl 69_37n +1 known missense c.1060 p.S354T 0.005 superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93A HGNC ENSG00000112494 35 0 0.00 30 12 27.91 - - - UPF3A 0 genome.wustl.edu 37 13 115070305 115070305 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 13 115070305 115070305 C T SNP UPF3A ENST00000375299 human ensembl 69_37n +1 known silent c.1344 p.F448 0.251 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3A HGNC ENSG00000169062 20 0 0.00 24 16 39.02 - - - UQCC 0 genome.wustl.edu 37 20 33894574 33894574 + Missense_Mutation SNP A A T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 20 33894574 33894574 A T SNP UQCC ENST00000453855 human ensembl 69_37n -1 known missense c.293 p.F98Y 1.000 NULL NULL - no_start_codon UQCC HGNC ENSG00000101019 28 0 0.00 44 8 15.38 - - - UQCRB 0 genome.wustl.edu 37 8 97244114 97244114 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 8 97244114 97244114 C T SNP UQCRB ENST00000521036 human ensembl 69_37n -1 known missense c.146 p.R49K 1.000 pfam_Cyt-d_ubiquinol_oxidase_14kDa,superfamily_Cyt-d_ubiquinol_oxidase_14kDa pfam_Cyt-d_ubiquinol_oxidase_14kDa,superfamily_Cyt-d_ubiquinol_oxidase_14kDa - no_errors UQCRB HGNC ENSG00000156467 64 0 0.00 47 40 45.98 - - - USH2A 0 genome.wustl.edu 37 1 216373463 216373463 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 216373463 216373463 C T SNP USH2A ENST00000366943 human ensembl 69_37n -1 known missense c.3317 p.S1106N 0.025 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 12 0 0.00 12 11 47.83 - - - USP32 0 genome.wustl.edu 37 17 58260613 58260613 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 17 58260613 58260613 C G SNP USP32 ENST00000300896 human ensembl 69_37n -1 known missense c.4036 p.D1346H 0.017 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_EF_hand_Ca-bd,smart_Pept_C19_DUSP,pfscan_EF_HAND_2,pfscan_Peptidase_C19,prints_Recoverin - no_errors USP32 HGNC ENSG00000170832 58 0 0.00 43 25 36.76 - - - USP34 0 genome.wustl.edu 37 2 61456067 61456067 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 61456067 61456067 C T SNP USP34 ENST00000411912 human ensembl 69_37n -1 novel missense c.541 p.E181K 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region USP34 HGNC ENSG00000115464 41 0 0.00 56 57 50.00 - - - USP45 0 genome.wustl.edu 37 6 99936136 99936136 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 99936136 99936136 C T SNP USP45 ENST00000327681 human ensembl 69_37n -1 known missense c.654 p.M218I 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Znf_UBP,superfamily_Znf_FYVE_PHD,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP45 HGNC ENSG00000123552 28 0 0.00 42 13 23.64 - - - USP8 0 genome.wustl.edu 37 15 50751285 50751285 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 15 50751285 50751285 G A SNP USP8 ENST00000307179 human ensembl 69_37n +1 known missense c.424 p.G142R 0.998 NULL pfam_Peptidase_C19,pfam_DUF1873,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_Rsp5_WWP,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19 - no_errors USP8 HGNC ENSG00000138592 87 0 0.00 94 28 22.95 - - - USP9X 0 genome.wustl.edu 37 X 41047365 41047365 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 41047365 41047365 G C SNP USP9X ENST00000324545 human ensembl 69_37n +1 known missense c.3805 p.E1269Q 1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP9X HGNC ENSG00000124486 34 0 0.00 67 24 26.37 - - - UTRN 0 genome.wustl.edu 37 6 144860468 144860468 + Silent SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 144860468 144860468 C G SNP UTRN ENST00000367545 human ensembl 69_37n +1 known silent c.6408 p.L2136 0.947 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 29 0 0.00 35 15 30.00 - - - VANGL2 0 genome.wustl.edu 37 1 160389350 160389350 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 160389350 160389350 G A SNP VANGL2 ENST00000368061 human ensembl 69_37n +1 known missense c.751 p.V251M 1.000 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL2 HGNC ENSG00000162738 24 0 0.00 22 12 34.29 - - - VARS 0 genome.wustl.edu 37 6 31752262 31752262 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 31752262 31752262 C T SNP VARS ENST00000375663 human ensembl 69_37n -1 known silent c.1485 p.L495 0.365 pfam_aa-tRNA-synth_Ia,tigrfam_Valyl-tRNA_synthetase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_synthetase,tigrfam_Valyl-tRNA_synthetase - no_errors VARS HGNC ENSG00000204394 16 0 0.00 23 9 27.27 - - - VPS13B 0 genome.wustl.edu 37 8 100791109 100791109 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 8 100791109 100791109 G A SNP VPS13B ENST00000358544 human ensembl 69_37n +1 known silent c.7704 p.V2568 0.498 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 32 0 0.00 40 14 25.93 - - - VPS13D 0 genome.wustl.edu 37 1 12337412 12337412 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 12337412 12337412 C T SNP VPS13D ENST00000358136 human ensembl 69_37n +1 known missense c.3767 p.S1256F 0.992 NULL pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 41 0 0.00 49 8 14.04 - - - WASF2 0 genome.wustl.edu 37 1 27745512 27745512 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 27745512 27745512 C G SNP WASF2 ENST00000430629 human ensembl 69_37n -1 known missense c.208 p.E70Q 0.999 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF2 HGNC ENSG00000158195 55 0 0.00 62 15 19.48 - - - WBSCR28 0 genome.wustl.edu 37 7 73279592 73279592 + Silent SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 73279592 73279592 C A SNP WBSCR28 ENST00000320531 human ensembl 69_37n +1 known silent c.342 p.L114 0.000 NULL NULL - no_errors WBSCR28 HGNC ENSG00000175877 61 0 0.00 66 36 35.29 - - - WDR44 0 genome.wustl.edu 37 X 117570782 117570782 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 117570782 117570782 C G SNP WDR44 ENST00000254029 human ensembl 69_37n +1 known missense c.1969 p.P657A 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 WDR44 HGNC ENSG00000131725 73 0 0.00 96 35 26.72 - - - WDR52 0 genome.wustl.edu 37 3 113082085 113082085 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 113082085 113082085 C T SNP WDR52 ENST00000490481 human ensembl 69_37n -1 known missense c.73 p.E25K 0.019 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region WDR52 HGNC ENSG00000206530 72 0 0.00 50 66 55.93 - - - WDR6 0 genome.wustl.edu 37 3 49052659 49052659 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 3 49052659 49052659 G C SNP WDR6 ENST00000395474 human ensembl 69_37n +1 known missense c.3394 p.E1132Q 0.836 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ENSG00000178252 18 0 0.00 12 24 66.67 - - - WDR67 0 genome.wustl.edu 37 8 124164049 124164049 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 8 124164049 124164049 C G SNP WDR67 ENST00000287380 human ensembl 69_37n +1 known missense c.3071 p.S1024C 0.973 NULL pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom - no_errors WDR67 HGNC ENSG00000156787 43 0 0.00 29 19 39.58 - - - WDR72 0 genome.wustl.edu 37 15 53815460 53815460 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 15 53815460 53815460 C T SNP WDR72 ENST00000360509 human ensembl 69_37n -1 known missense c.3208 p.E1070K 0.989 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC ENSG00000166415 60 0 0.00 96 22 18.64 - - - WDR93 0 genome.wustl.edu 37 15 90265345 90265345 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 15 90265345 90265345 G A SNP WDR93 ENST00000268130 human ensembl 69_37n +1 known silent c.855 p.K285 0.999 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors WDR93 HGNC ENSG00000140527 61 0 0.00 61 18 22.78 - - - WFDC8 0 genome.wustl.edu 37 20 44190777 44190777 + Silent SNP A A C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 20 44190777 44190777 A C SNP WFDC8 ENST00000289953 human ensembl 69_37n -1 known silent c.108 p.T36 0.000 superfamily_Whey_acidic_protein_4-diS_core pfam_Whey_acidic_protein_4-diS_core,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,prints_4-disulphide_core,pfscan_Prot_inh_Kunz-m - no_errors WFDC8 HGNC ENSG00000158901 48 0 0.00 51 13 20.00 - - - WSCD2 0 genome.wustl.edu 37 12 108589796 108589796 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 108589796 108589796 G A SNP WSCD2 ENST00000261400 human ensembl 69_37n +1 known missense c.187 p.E63K 1.000 NULL pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD2 HGNC ENSG00000075035 25 0 0.00 19 8 29.63 - - - XIRP2 0 genome.wustl.edu 37 2 168106123 168106123 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 168106123 168106123 C G SNP XIRP2 ENST00000295237 human ensembl 69_37n +1 known missense c.8221 p.Q2741E 0.711 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 30 0 0.00 40 12 23.08 - - - XPO1 0 genome.wustl.edu 37 2 61726027 61726027 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 61726027 61726027 C T SNP XPO1 ENST00000401558 human ensembl 69_37n -1 known silent c.612 p.Q204 0.653 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO1 HGNC ENSG00000082898 31 0 0.00 52 17 24.29 - - - XPO6 0 genome.wustl.edu 37 16 28123292 28123292 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 16 28123292 28123292 G C SNP XPO6 ENST00000304658 human ensembl 69_37n -1 known missense c.2187 p.I729M 0.999 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO6 HGNC ENSG00000169180 45 0 0.00 38 13 25.49 - - - YLPM1 0 genome.wustl.edu 37 14 75266088 75266088 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 14 75266088 75266088 G A SNP YLPM1 ENST00000325680 human ensembl 69_37n +1 known missense c.4088 p.R1363Q 1.000 NULL superfamily_FH2_actin-bd - no_errors YLPM1 HGNC ENSG00000119596 37 0 0.00 23 27 54.00 - - - ZAK 0 genome.wustl.edu 37 2 173955864 173955864 + Nonsense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 173955864 173955864 G A SNP ZAK ENST00000375213 human ensembl 69_37n +1 known nonsense c.105 p.W35* 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_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_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AC013461.1 Clone_based_vega_gene ENSG00000091436 38 0 0.00 51 12 19.05 - - - ZC3H7B 0 genome.wustl.edu 37 22 41726065 41726065 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 22 41726065 41726065 G A SNP ZC3H7B ENST00000351589 human ensembl 69_37n +1 known silent c.483 p.Q161 1.000 NULL pfam_Znf_CCCH,pfam_TPR-1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ZC3H7B HGNC ENSG00000100403 34 0 0.00 31 18 36.73 - - - ZC3HC1 0 genome.wustl.edu 37 7 129666140 129666140 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 129666140 129666140 C G SNP ZC3HC1 ENST00000358303 human ensembl 69_37n -1 known missense c.634 p.D212H 1.000 NULL pfam_Znf_C3HC-like,pfam_NIPA/Rsm1 - no_errors ZC3HC1 HGNC ENSG00000091732 34 0 0.00 57 17 22.67 - - - ZCCHC2 0 genome.wustl.edu 37 18 60225997 60225997 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 18 60225997 60225997 G C SNP ZCCHC2 ENST00000269499 human ensembl 69_37n +1 known missense c.1486 p.E496Q 1.000 NULL pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC2 HGNC ENSG00000141664 30 0 0.00 17 13 43.33 - - - ZDBF2 0 genome.wustl.edu 37 2 207174095 207174095 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 207174095 207174095 G C SNP ZDBF2 ENST00000374423 human ensembl 69_37n +1 known missense c.4843 p.E1615Q 0.088 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 8 0 0.00 11 7 38.89 - - - ZDBF2 0 genome.wustl.edu 37 2 207174272 207174272 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 207174272 207174272 C G SNP ZDBF2 ENST00000374423 human ensembl 69_37n +1 known missense c.5020 p.H1674D 0.130 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 24 0 0.00 41 21 33.87 - - - ZFP106 0 genome.wustl.edu 37 15 42710150 42710150 + Splice_Site SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 15 42710150 42710150 C G SNP ZFP106 ENST00000263805 human ensembl 69_37n -1 known splice_site c.5449-1 e18-1 1.000 - - - no_errors ZFP106 HGNC ENSG00000103994 42 0 0.00 48 11 18.64 - - - ZFP14 0 genome.wustl.edu 37 19 36831483 36831483 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 19 36831483 36831483 C G SNP ZFP14 ENST00000270001 human ensembl 69_37n -1 known missense c.1245 p.Q415H 0.999 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 ZFP14 HGNC ENSG00000142065 52 0 0.00 74 14 15.56 - - - ZFR 0 genome.wustl.edu 37 5 32387785 32387785 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 5 32387785 32387785 C G SNP ZFR ENST00000265069 human ensembl 69_37n -1 known missense c.2369 p.R790P 1.000 pfam_DZF,smart_DZF pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR HGNC ENSG00000056097 27 0 0.00 48 10 17.24 - - - ZKSCAN1 0 genome.wustl.edu 37 7 99631175 99631175 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 99631175 99631175 G A SNP ZKSCAN1 ENST00000324306 human ensembl 69_37n +1 known silent c.1047 p.E349 0.941 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN1 HGNC ENSG00000106261 64 0 0.00 79 30 27.27 - - - ZNF175 0 genome.wustl.edu 37 19 52091460 52091460 + Missense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 19 52091460 52091460 C A SNP ZNF175 ENST00000262259 human ensembl 69_37n +1 known missense c.1876 p.Q626K 0.560 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 ZNF175 HGNC ENSG00000105497 47 0 0.00 39 9 18.75 - - - ZNF189 0 genome.wustl.edu 37 9 104170663 104170663 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 9 104170663 104170663 G A SNP ZNF189 ENST00000339664 human ensembl 69_37n +1 known missense c.613 p.E205K 1.000 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 ZNF189 HGNC ENSG00000136870 37 0 0.00 44 18 29.03 - - - ZNF192P1 0 genome.wustl.edu 37 6 28134837 28134837 + RNA SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 6 28134837 28134837 G C SNP ZNF192P1 ENST00000440790 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors ZNF192P1 HGNC ENSG00000226314 48 0 0.00 41 20 32.79 - - - ZNF212 0 genome.wustl.edu 37 7 148947328 148947328 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 148947328 148947328 C G SNP ZNF212 ENST00000335870 human ensembl 69_37n +1 known missense c.103 p.Q35E 0.339 pfam_DUF3669_Znf pfam_Znf_C2H2,pfam_DUF3669_Znf,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 ZNF212 HGNC ENSG00000170260 37 0 0.00 36 15 29.41 - - - ZNF24 0 genome.wustl.edu 37 18 32917214 32917214 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 18 32917214 32917214 C T SNP ZNF24 ENST00000261332 human ensembl 69_37n -1 known silent c.1089 p.L363 1.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF24 HGNC ENSG00000172466 24 0 0.00 35 9 20.00 - - - ZNF334 0 genome.wustl.edu 37 20 45132914 45132914 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 20 45132914 45132914 G C SNP ZNF334 ENST00000347606 human ensembl 69_37n -1 known missense c.180 p.F60L 0.479 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF334 HGNC ENSG00000198185 65 0 0.00 116 17 12.78 - - - ZNF384 0 genome.wustl.edu 37 12 6782582 6782582 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 12 6782582 6782582 G A SNP ZNF384 ENST00000361959 human ensembl 69_37n -1 known silent c.711 p.F237 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF384 HGNC ENSG00000126746 70 0 0.00 47 28 37.33 - - - ZNF385B 0 genome.wustl.edu 37 2 180311286 180311286 + Silent SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 2 180311286 180311286 C A SNP ZNF385B ENST00000410066 human ensembl 69_37n -1 known silent c.882 p.V294 1.000 smart_Znf_U1,smart_Znf_C2H2-like pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385B HGNC ENSG00000144331 50 0 0.00 62 43 40.95 - - - ZNF394 0 genome.wustl.edu 37 7 99097527 99097527 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 7 99097527 99097527 G C SNP ZNF394 ENST00000337673 human ensembl 69_37n -1 known missense c.190 p.R64G 0.060 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF394 HGNC ENSG00000160908 24 0 0.00 20 13 39.39 - - - ZNF395 0 genome.wustl.edu 37 8 28207585 28207585 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 8 28207585 28207585 G C SNP ZNF395 ENST00000344423 human ensembl 69_37n -1 known missense c.1322 p.S441C 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF395 HGNC ENSG00000186918 25 0 0.00 33 6 15.38 - - - ZNF417 0 genome.wustl.edu 37 19 58423525 58423525 + Silent SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 19 58423525 58423525 C A SNP ZNF417 ENST00000312026 human ensembl 69_37n -1 known silent c.66 p.V22 0.885 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF417 HGNC ENSG00000173480 119 0 0.00 108 38 26.03 - - - ZNF441 0 genome.wustl.edu 37 19 11891225 11891225 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 19 11891225 11891225 C T SNP ZNF441 ENST00000357901 human ensembl 69_37n +1 known missense c.586 p.R196C 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF441 HGNC ENSG00000197044 53 0 0.00 38 34 47.22 - - - ZNF48 0 genome.wustl.edu 37 16 30409375 30409375 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 16 30409375 30409375 G A SNP ZNF48 ENST00000320159 human ensembl 69_37n +1 known silent c.804 p.P268 0.289 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF48 HGNC ENSG00000180035 37 0 0.00 44 11 20.00 - - - ZNF484 0 genome.wustl.edu 37 9 95610506 95610506 + Missense_Mutation SNP A A G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 9 95610506 95610506 A G SNP ZNF484 ENST00000395506 human ensembl 69_37n -1 known missense c.569 p.I190T 0.002 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 ZNF484 HGNC ENSG00000127081 52 0 0.00 98 32 24.62 - - - ZNF518B 0 genome.wustl.edu 37 4 10447058 10447058 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 4 10447058 10447058 C T SNP ZNF518B ENST00000326756 human ensembl 69_37n -1 known missense c.895 p.E299K 0.994 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF518B HGNC ENSG00000178163 49 0 0.00 73 40 35.40 - - - ZNF546 0 genome.wustl.edu 37 19 40521059 40521059 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 19 40521059 40521059 C T SNP ZNF546 ENST00000347077 human ensembl 69_37n +1 known missense c.1882 p.H628Y 1.000 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 ZNF546 HGNC ENSG00000187187 29 0 0.00 37 7 15.91 - - - ZNF583 0 genome.wustl.edu 37 19 56935300 56935300 + Nonsense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 19 56935300 56935300 C T SNP ZNF583 ENST00000291598 human ensembl 69_37n +1 known nonsense c.1273 p.Q425* 0.001 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 ZNF583 HGNC ENSG00000198440 35 0 0.00 32 30 47.62 - - - ZNF595 0 genome.wustl.edu 37 4 86571 86571 + RNA SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 4 86571 86571 G C SNP ZNF595 ENST00000339368 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors ZNF595 HGNC ENSG00000197701 28 0 0.00 30 22 42.31 - - - ZNF613 0 genome.wustl.edu 37 19 52447977 52447978 + Frame_Shift_Ins INS - - AC TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 19 52447977 52447978 - AC INS ZNF613 ENST00000293471 human ensembl 69_37n +1 known frame_shift_ins c.841_842 p.I281fs 0.614:0.553 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 ZNF613 HGNC ENSG00000176024 39 0 0.00 39 7 15.22 - - - ZNF643 0 genome.wustl.edu 37 1 40929184 40929184 + Missense_Mutation SNP A A G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 1 40929184 40929184 A G SNP ZNF643 ENST00000411995 human ensembl 69_37n +1 known missense c.1528 p.K510E 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF643 HGNC ENSG00000187801 16 0 0.00 28 11 28.21 - - - ZNF729 0 genome.wustl.edu 37 19 22486597 22486597 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 19 22486597 22486597 C G SNP ZNF729 ENST00000357491 human ensembl 69_37n +1 known missense c.68 p.S23C 0.020 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_stop_codon ZNF729 HGNC ENSG00000196350 88 0 0.00 49 40 44.94 - - - ZNF730 0 genome.wustl.edu 37 19 23318788 23318788 + Missense_Mutation SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 19 23318788 23318788 G A SNP ZNF730 ENST00000327867 human ensembl 69_37n +1 known missense c.169 p.E57K 0.002 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF730 HGNC ENSG00000183850 40 0 0.00 58 33 36.26 - - - ZNF75D 0 genome.wustl.edu 37 X 134427658 134427658 + Nonsense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 X 134427658 134427658 C A SNP ZNF75D ENST00000370766 human ensembl 69_37n -1 known nonsense c.409 p.E137* 0.019 pfam_Tscrpt_reg_SCAN,smart_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF75D HGNC ENSG00000186376 16 0 0.00 33 13 28.26 - - - ZNF776 0 genome.wustl.edu 37 19 58265822 58265822 + Missense_Mutation SNP C C A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 19 58265822 58265822 C A SNP ZNF776 ENST00000317178 human ensembl 69_37n +1 known missense c.1324 p.H442N 0.000 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 ZNF776 HGNC ENSG00000152443 56 0 0.00 84 14 14.29 - - - ZNF816 0 genome.wustl.edu 37 19 53453791 53453791 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 19 53453791 53453791 C G SNP ZNF816 ENST00000357666 human ensembl 69_37n -1 known missense c.1237 p.E413Q 0.000 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 ZNF816 HGNC ENSG00000180257 59 0 0.00 65 23 26.14 - - - ZNF816 0 genome.wustl.edu 37 19 53459288 53459288 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 19 53459288 53459288 G C SNP ZNF816 ENST00000357666 human ensembl 69_37n -1 known missense c.55 p.L19V 0.008 superfamily_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF816 HGNC ENSG00000180257 54 0 0.00 58 18 23.68 - - - ZP1 0 genome.wustl.edu 37 11 60637153 60637153 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b1c77e8b-cc4a-40aa-b858-5928aa761aa3 4a97d15d-98ec-4107-bfa4-21be8b5fba25 11 60637153 60637153 C T SNP ZP1 ENST00000278853 human ensembl 69_37n +1 known silent c.462 p.F154 0.000 NULL pfam_Zona_pellucida_Endoglin/CD105,superfamily_P_trefoil,smart_P_trefoil,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors ZP1 HGNC ENSG00000149506 63 0 0.00 37 35 48.61 - - -