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 ADAMTSL3 0 genome.wustl.edu 37 15 84639385 84639385 + Nonsense_Mutation SNP C C A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 15 84639385 84639385 C A SNP ADAMTSL3 ENST00000286744 human ensembl 69_37n +1 known nonsense c.2640 p.C880* 0.830 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 94 0 0.00 117 42 26.42 - - - AKAP14 0 genome.wustl.edu 37 X 119037310 119037310 + Missense_Mutation SNP G G C TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 X 119037310 119037310 G C SNP AKAP14 ENST00000371431 human ensembl 69_37n +1 known missense c.124 p.A42P 0.000 NULL NULL - no_errors AKAP14 HGNC ENSG00000186471 171 1 0.58 25 108 81.20 - - - ANKRD30A 0 genome.wustl.edu 37 10 37419269 37419269 + Missense_Mutation SNP T T A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 10 37419269 37419269 T A SNP ANKRD30A ENST00000361713 human ensembl 69_37n +1 known missense c.305 p.L102Q 0.990 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 149 0 0.00 80 30 27.03 - - - ANKRD30A 0 genome.wustl.edu 37 10 37419270 37419270 + Silent SNP G G T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 10 37419270 37419270 G T SNP ANKRD30A ENST00000361713 human ensembl 69_37n +1 known silent c.306 p.L102 0.989 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 149 0 0.00 76 30 28.30 - - - ANKRD35 0 genome.wustl.edu 37 1 145558223 145558223 + Missense_Mutation SNP G G A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 1 145558223 145558223 G A SNP ANKRD35 ENST00000355594 human ensembl 69_37n +1 known missense c.340 p.D114N 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD35 HGNC ENSG00000198483 56 0 0.00 131 21 13.73 - - - AP1B1 0 genome.wustl.edu 37 22 29737711 29737711 + Silent SNP G G A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 22 29737711 29737711 G A SNP AP1B1 ENST00000357586 human ensembl 69_37n -1 known silent c.1575 p.I525 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu - no_errors AP1B1 HGNC ENSG00000100280 23 0 0.00 2 24 92.31 - - - AP2A1 0 genome.wustl.edu 37 19 50309000 50309000 + Missense_Mutation SNP C C G TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 19 50309000 50309000 C G SNP AP2A1 ENST00000359032 human ensembl 69_37n +1 known missense c.2617 p.Q873E 0.998 pfam_Clathrin_a-adaptin_app_sub_C,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A1 HGNC ENSG00000196961 16 0 0.00 7 28 80.00 - - - APOB 0 genome.wustl.edu 37 2 21235092 21235092 + Missense_Mutation SNP G G T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 2 21235092 21235092 G T SNP APOB ENST00000233242 human ensembl 69_37n -1 known missense c.4648 p.L1550M 0.627 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 153 0 0.00 108 94 46.53 - - - APPBP2 0 genome.wustl.edu 37 17 58538075 58538075 + Missense_Mutation SNP G G A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 17 58538075 58538075 G A SNP APPBP2 ENST00000083182 human ensembl 69_37n -1 known missense c.1010 p.A337V 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors APPBP2 HGNC ENSG00000062725 121 0 0.00 121 64 34.41 - - - ARHGAP42 0 genome.wustl.edu 37 11 100792303 100792303 + Missense_Mutation SNP C C G TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 11 100792303 100792303 C G SNP ARHGAP42 ENST00000298815 human ensembl 69_37n +1 known missense c.565 p.Q189E 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,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 ARHGAP42 HGNC ENSG00000165895 154 0 0.00 10 32 76.19 - - - ATAD3B 0 genome.wustl.edu 37 1 1426042 1426042 + Silent SNP G G A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 1 1426042 1426042 G A SNP ATAD3B ENST00000308647 human ensembl 69_37n +1 known silent c.1605 p.V535 1.000 NULL pfam_DUF3523,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors ATAD3B HGNC ENSG00000160072 23 0 0.00 4 29 87.88 - - - BID 0 genome.wustl.edu 37 22 18220856 18220856 + Missense_Mutation SNP C C T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 22 18220856 18220856 C T SNP BID ENST00000317361 human ensembl 69_37n -1 known missense c.641 p.R214H 0.005 pfam_BID pfam_BID - no_errors BID HGNC ENSG00000015475 84 0 0.00 17 87 81.31 - - - BRCA2 0 genome.wustl.edu 37 13 32972561 32972561 + Missense_Mutation SNP G G C TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 13 32972561 32972561 G C SNP BRCA2 ENST00000380152 human ensembl 69_37n +1 known missense c.9911 p.C3304S 0.974 pirsf_DNA_recomb/repair_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold-like,pirsf_DNA_recomb/repair_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 126 0 0.00 16 87 84.47 - - - C4orf36 0 genome.wustl.edu 37 4 87809333 87809333 + Missense_Mutation SNP C C T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 4 87809333 87809333 C T SNP C4orf36 ENST00000295898 human ensembl 69_37n -1 known missense c.161 p.G54D 0.000 NULL NULL - no_errors C4orf36 HGNC ENSG00000163633 181 0 0.00 20 56 73.68 - - - C6orf89 0 genome.wustl.edu 37 6 36882408 36882408 + Missense_Mutation SNP G G A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 6 36882408 36882408 G A SNP C6orf89 ENST00000355190 human ensembl 69_37n +1 known missense c.655 p.G219R 0.994 NULL NULL - no_errors C6orf89 HGNC ENSG00000198663 180 0 0.00 230 65 21.96 - - - CACNA2D3 0 genome.wustl.edu 37 3 54905585 54905585 + Missense_Mutation SNP G G T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 3 54905585 54905585 G T SNP CACNA2D3 ENST00000288197 human ensembl 69_37n +1 known missense c.1646 p.R549L 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 199 0 0.00 91 58 38.93 - - - CCR7 0 genome.wustl.edu 37 17 38711515 38711515 + Nonsense_Mutation SNP G G A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 17 38711515 38711515 G A SNP CCR7 ENST00000246657 human ensembl 69_37n -1 known nonsense c.616 p.Q206* 0.062 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Chemokine_CCR7,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Chemokine_CCR7,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CCR11,pfscan_GPCR_Rhodpsn_supfam - no_errors CCR7 HGNC ENSG00000126353 30 0 0.00 80 29 26.61 - - - CD9 0 genome.wustl.edu 37 12 6309673 6309673 + Missense_Mutation SNP T T A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 12 6309673 6309673 T A SNP CD9 ENST00000009180 human ensembl 69_37n +1 known missense c.8 p.V3D 1.000 NULL pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD9 HGNC ENSG00000010278 29 0 0.00 41 35 45.45 - - - CDR2L 0 genome.wustl.edu 37 17 72998158 72998158 + Splice_Site SNP G G A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 17 72998158 72998158 G A SNP CDR2L ENST00000337231 human ensembl 69_37n +1 known splice_site c.342-1 e4-1 1.000 - - - no_errors CDR2L HGNC ENSG00000109089 12 0 0.00 26 12 31.58 - - - CEP170 0 genome.wustl.edu 37 1 243327823 243327823 + Missense_Mutation SNP T T C TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 1 243327823 243327823 T C SNP CEP170 ENST00000366542 human ensembl 69_37n -1 known missense c.3439 p.I1147V 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170 HGNC ENSG00000143702 52 0 0.00 51 62 54.87 - - - CFTR 0 genome.wustl.edu 37 7 117282532 117282532 + Missense_Mutation SNP T T C TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 7 117282532 117282532 T C SNP CFTR ENST00000003084 human ensembl 69_37n +1 known missense c.3758 p.L1253S 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_cAMP_cl_channel 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,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 229 0 0.00 54 34 38.64 - - - CMYA5 0 genome.wustl.edu 37 5 79030062 79030062 + Frame_Shift_Del DEL A A - TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 5 79030062 79030062 A - DEL CMYA5 ENST00000446378 human ensembl 69_37n +1 known frame_shift_del c.5474 p.A1827fs 0.001 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 119 0 0.00 40 17 29.82 - - - CNTRL 0 genome.wustl.edu 37 9 123937323 123937323 + Missense_Mutation SNP C C G TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 9 123937323 123937323 C G SNP CNTRL ENST00000238341 human ensembl 69_37n +1 known missense c.6775 p.Q2259E 1.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 90 0 0.00 16 63 79.75 - - - CPNE4 0 genome.wustl.edu 37 3 131300432 131300432 + Missense_Mutation SNP A A T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 3 131300432 131300432 A T SNP CPNE4 ENST00000502818 human ensembl 69_37n -1 known missense c.912 p.N304K 1.000 NULL pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting - no_errors CPNE4 HGNC ENSG00000196353 258 0 0.00 99 42 29.37 - - - CRYGC 0 genome.wustl.edu 37 2 208993146 208993146 + Missense_Mutation SNP C C A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 2 208993146 208993146 C A SNP CRYGC ENST00000282141 human ensembl 69_37n -1 known missense c.306 p.M102I 0.992 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGC HGNC ENSG00000163254 21 0 0.00 0 18 100.00 - - - CRYGC 0 genome.wustl.edu 37 2 208993166 208993166 + Nonsense_Mutation SNP C C A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 2 208993166 208993166 C A SNP CRYGC ENST00000282141 human ensembl 69_37n -1 known nonsense c.286 p.E96* 0.891 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGC HGNC ENSG00000163254 20 0 0.00 0 15 100.00 - - - CSF3R 0 genome.wustl.edu 37 1 36940986 36940986 + Missense_Mutation SNP C C G TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 1 36940986 36940986 C G SNP CSF3R ENST00000373103 human ensembl 69_37n -1 known missense c.353 p.R118P 0.041 NULL pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF3R HGNC ENSG00000119535 35 0 0.00 28 25 47.17 - - - CXorf58 0 genome.wustl.edu 37 X 23956748 23956748 + Missense_Mutation SNP A A T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 X 23956748 23956748 A T SNP CXorf58 ENST00000379211 human ensembl 69_37n +1 known missense c.870 p.Q290H 0.070 NULL NULL - no_errors CXorf58 HGNC ENSG00000165182 180 0 0.00 15 92 85.98 - - - CYLC1 0 genome.wustl.edu 37 X 83129529 83129529 + Missense_Mutation SNP G G C TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 X 83129529 83129529 G C SNP CYLC1 ENST00000329312 human ensembl 69_37n +1 known missense c.1813 p.E605Q 0.998 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 107 0 0.00 27 19 41.30 - - - DCC 0 genome.wustl.edu 37 18 50918216 50918216 + Missense_Mutation SNP G G A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 18 50918216 50918216 G A SNP DCC ENST00000442544 human ensembl 69_37n +1 known missense c.2647 p.V883I 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,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 DCC HGNC ENSG00000187323 85 0 0.00 80 33 29.20 - - - DDX56 0 genome.wustl.edu 37 7 44606075 44606075 + Missense_Mutation SNP T T C TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 7 44606075 44606075 T C SNP DDX56 ENST00000258772 human ensembl 69_37n -1 known missense c.1538 p.K513R 0.973 NULL 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 DDX56 HGNC ENSG00000136271 17 0 0.00 45 8 15.09 - - - DLC1 0 genome.wustl.edu 37 8 13357276 13357276 + Missense_Mutation SNP G G T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 8 13357276 13357276 G T SNP DLC1 ENST00000276297 human ensembl 69_37n -1 known missense c.305 p.A102D 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 89 0 0.00 8 27 77.14 - - - DLEC1 0 genome.wustl.edu 37 3 38080927 38080927 + Missense_Mutation SNP C C G TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 3 38080927 38080927 C G SNP DLEC1 ENST00000346219 human ensembl 69_37n +1 known missense c.211 p.L71V 0.004 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 17 0 0.00 14 11 44.00 - - - DMXL1 0 genome.wustl.edu 37 5 118573104 118573104 + Missense_Mutation SNP T T C TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 5 118573104 118573104 T C SNP DMXL1 ENST00000539542 human ensembl 69_37n +1 known missense c.8554 p.Y2852H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 124 0 0.00 5 29 85.29 - - - DNAH14 0 genome.wustl.edu 37 1 225140371 225140371 + Splice_Site SNP G G A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 1 225140371 225140371 G A SNP DNAH14 ENST00000430092 human ensembl 69_37n +1 known splice_site c.1-1 e1-1 0.074 - - - no_errors DNAH14 HGNC ENSG00000185842 242 0 0.00 163 32 16.33 - - - EIF2C4 0 genome.wustl.edu 37 1 36298161 36298161 + Missense_Mutation SNP G G A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 1 36298161 36298161 G A SNP EIF2C4 ENST00000373210 human ensembl 69_37n +1 known missense c.1369 p.D457N 1.000 NULL pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C4 HGNC ENSG00000134698 233 0 0.00 81 56 40.58 - - - ELN 0 genome.wustl.edu 37 7 73462496 73462496 + Missense_Mutation SNP G G A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 7 73462496 73462496 G A SNP ELN ENST00000358929 human ensembl 69_37n +1 known missense c.710 p.G237D 0.739 prints_Tropoelastin prints_Tropoelastin - no_errors ELN HGNC ENSG00000049540 34 0 0.00 48 11 18.64 - - - ENSG00000248710 0 genome.wustl.edu 37 3 159997110 159997110 + Missense_Mutation SNP A A C TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 3 159997110 159997110 A C SNP ENSG00000248710 ENST00000483754 human ensembl 69_37n -1 known missense c.2220 p.N740K 1.000 NULL pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RP11-432B6.3 Clone_based_vega_gene ENSG00000248710 164 0 0.00 214 24 10.08 - - - EPB41L3 0 genome.wustl.edu 37 18 5445173 5445173 + Missense_Mutation SNP A A G TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 18 5445173 5445173 A G SNP EPB41L3 ENST00000341928 human ensembl 69_37n -1 known missense c.452 p.F151S 1.000 pirsf_Band_41_protein,pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors EPB41L3 HGNC ENSG00000082397 236 1 0.42 223 45 16.61 - - - EPHB4 0 genome.wustl.edu 37 7 100417260 100417260 + Missense_Mutation SNP C C T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 7 100417260 100417260 C T SNP EPHB4 ENST00000358173 human ensembl 69_37n -1 known missense c.1216 p.V406I 0.951 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 17 0 0.00 41 11 21.15 - - - ERVW-1 0 genome.wustl.edu 37 7 92099631 92099631 + Missense_Mutation SNP G G C TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 7 92099631 92099631 G C SNP ERVW-1 ENST00000493463 human ensembl 69_37n -1 known missense c.65 p.P22R 0.513 NULL pfam_TLV/ENV_coat_polyprotein - no_errors ERVW-1 HGNC ENSG00000242950 63 0 0.00 123 38 23.46 - - - ESF1 0 genome.wustl.edu 37 20 13698067 13698067 + Missense_Mutation SNP T T G TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 20 13698067 13698067 T G SNP ESF1 ENST00000202816 human ensembl 69_37n -1 known missense c.2210 p.K737T 1.000 NULL pfam_NUC153 - no_errors ESF1 HGNC ENSG00000089048 594 0 0.00 222 130 36.83 - - - EXT2 0 genome.wustl.edu 37 11 44228488 44228488 + Missense_Mutation SNP C C A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 11 44228488 44228488 C A SNP EXT2 ENST00000395673 human ensembl 69_37n +1 known missense c.1740 p.D580E 0.008 pfam_HexNAc_Trfase_a pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT2 HGNC ENSG00000151348 226 0 0.00 205 49 19.29 - - - F5 0 genome.wustl.edu 37 1 169511128 169511128 + Missense_Mutation SNP G G A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 1 169511128 169511128 G A SNP F5 ENST00000367796 human ensembl 69_37n -1 known missense c.3215 p.S1072L 0.091 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 239 0 0.00 152 101 39.76 - - - FAM124A 0 genome.wustl.edu 37 13 51826195 51826195 + Missense_Mutation SNP C C T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 13 51826195 51826195 C T SNP FAM124A ENST00000280057 human ensembl 69_37n +1 known missense c.800 p.P267L 0.998 NULL NULL - no_errors FAM124A HGNC ENSG00000150510 11 0 0.00 4 12 75.00 - - - FAM166A 0 genome.wustl.edu 37 9 140142119 140142119 + Missense_Mutation SNP C C T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 9 140142119 140142119 C T SNP FAM166A ENST00000344774 human ensembl 69_37n -1 known missense c.49 p.V17I 0.989 pfam_UPF0573/UPF0605 pfam_UPF0573/UPF0605 - no_errors FAM166A HGNC ENSG00000188163 153 0 0.00 36 142 79.78 - - - FAM98A 0 genome.wustl.edu 37 2 33810192 33810192 + Missense_Mutation SNP C C G TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 2 33810192 33810192 C G SNP FAM98A ENST00000238823 human ensembl 69_37n -1 known missense c.1208 p.G403A 1.000 NULL pfam_Uncharacterised_FAM98 - no_errors FAM98A HGNC ENSG00000119812 265 0 0.00 274 126 31.34 - - - FANCG 0 genome.wustl.edu 37 9 35078182 35078182 + Missense_Mutation SNP G G C TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 9 35078182 35078182 G C SNP FANCG ENST00000378643 human ensembl 69_37n -1 known missense c.466 p.L156V 0.151 superfamily_Sig_transdc_His_kin_Hpt_dom superfamily_Sig_transdc_His_kin_Hpt_dom,smart_TPR_repeat - no_errors FANCG HGNC ENSG00000221829 21 0 0.00 41 10 19.23 - - - FCGBP 0 genome.wustl.edu 37 19 40383993 40383993 + Missense_Mutation SNP T T A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 19 40383993 40383993 T A SNP FCGBP ENST00000221347 human ensembl 69_37n -1 known missense c.9617 p.N3206I 0.000 superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 26 0 0.00 47 10 16.95 - - - FCN1 0 genome.wustl.edu 37 9 137808243 137808243 + Silent SNP C C A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 9 137808243 137808243 C A SNP FCN1 ENST00000371806 human ensembl 69_37n -1 known silent c.168 p.L56 0.992 pfam_Collagen pfam_Fibrinogen_a/b/g_C,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors FCN1 HGNC ENSG00000085265 36 0 0.00 24 23 48.94 - - - FKBPL 0 genome.wustl.edu 37 6 32097227 32097227 + Missense_Mutation SNP G G C TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 6 32097227 32097227 G C SNP FKBPL ENST00000375156 human ensembl 69_37n -1 known missense c.331 p.R111G 0.002 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FKBPL HGNC ENSG00000204315 71 0 0.00 78 55 41.35 - - - FLJ43860 0 genome.wustl.edu 37 8 142489405 142489405 + Silent SNP G G A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 8 142489405 142489405 G A SNP FLJ43860 ENST00000430863 human ensembl 69_37n -1 known silent c.997 p.L333 0.280 NULL NULL - pseudogene AC100803.1 Clone_based_vega_gene ENSG00000226807 14 0 0.00 1 12 92.31 - - - FRS3 0 genome.wustl.edu 37 6 41738737 41738737 + Missense_Mutation SNP C C T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 6 41738737 41738737 C T SNP FRS3 ENST00000259748 human ensembl 69_37n -1 known missense c.1099 p.E367K 1.000 NULL pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors FRS3 HGNC ENSG00000137218 10 0 0.00 9 14 60.87 - - - GCN1L1 0 genome.wustl.edu 37 12 120565720 120565720 + Missense_Mutation SNP C C T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 12 120565720 120565720 C T SNP GCN1L1 ENST00000300648 human ensembl 69_37n -1 known missense c.7949 p.R2650K 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 30 0 0.00 20 11 35.48 - - - GIMAP2 0 genome.wustl.edu 37 7 150389497 150389497 + Silent SNP C C T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 7 150389497 150389497 C T SNP GIMAP2 ENST00000223293 human ensembl 69_37n +1 known silent c.123 p.S41 1.000 pfam_AIG1 pfam_AIG1 - no_errors GIMAP2 HGNC ENSG00000106560 37 0 0.00 14 27 65.85 - - - HEATR2 0 genome.wustl.edu 37 7 825272 825272 + Missense_Mutation SNP C C T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 7 825272 825272 C T SNP HEATR2 ENST00000440747 human ensembl 69_37n +1 novel missense c.1954 p.R652C 0.079 NULL pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region HEATR2 HGNC ENSG00000164818 24 0 0.00 41 12 22.22 - - - HECW1 0 genome.wustl.edu 37 7 43601517 43601517 + Missense_Mutation SNP C C A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 7 43601517 43601517 C A SNP HECW1 ENST00000395891 human ensembl 69_37n +1 known missense c.4813 p.L1605I 1.000 pfam_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW1 HGNC ENSG00000002746 93 0 0.00 149 45 23.20 - - - HELZ 0 genome.wustl.edu 37 17 65082989 65082989 + Missense_Mutation SNP G G T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 17 65082989 65082989 G T SNP HELZ ENST00000358691 human ensembl 69_37n -1 known missense c.5450 p.P1817Q 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors HELZ HGNC ENSG00000198265 150 0 0.00 122 58 32.22 - - - HIPK1 0 genome.wustl.edu 37 1 114483129 114483129 + Missense_Mutation SNP T T G TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 1 114483129 114483129 T G SNP HIPK1 ENST00000369558 human ensembl 69_37n +1 known missense c.124 p.Y42D 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 HIPK1 HGNC ENSG00000163349 116 0 0.00 17 113 86.92 - - - HMGXB3 0 genome.wustl.edu 37 5 149425158 149425158 + Missense_Mutation SNP G G C TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 5 149425158 149425158 G C SNP HMGXB3 ENST00000502717 human ensembl 69_37n +1 known missense c.2860 p.V954L 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGXB3 HGNC ENSG00000113716 116 0 0.00 15 138 89.61 - - - HSPA12A 0 genome.wustl.edu 37 10 118434446 118434446 + Missense_Mutation SNP C C T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 10 118434446 118434446 C T SNP HSPA12A ENST00000369209 human ensembl 69_37n -1 known missense c.1874 p.R625H 1.000 NULL NULL - no_errors HSPA12A HGNC ENSG00000165868 11 0 0.00 5 27 84.38 - - - HTR5A 0 genome.wustl.edu 37 7 154863184 154863184 + Missense_Mutation SNP G G T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 7 154863184 154863184 G T SNP HTR5A ENST00000287907 human ensembl 69_37n +1 known missense c.575 p.C192F 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_5HT5A_rcpt,prints_5HT_rcpt - no_errors HTR5A HGNC ENSG00000157219 26 0 0.00 26 43 62.32 - - - KIF24 0 genome.wustl.edu 37 9 34269280 34269280 + Missense_Mutation SNP G G T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 9 34269280 34269280 G T SNP KIF24 ENST00000379166 human ensembl 69_37n -1 known missense c.1418 p.A473E 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF24 HGNC ENSG00000186638 224 0 0.00 135 37 21.51 - - - KRT2 0 genome.wustl.edu 37 12 53042093 53042093 + Missense_Mutation SNP G G A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 12 53042093 53042093 G A SNP KRT2 ENST00000309680 human ensembl 69_37n -1 known missense c.986 p.T329I 0.867 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT2 HGNC ENSG00000172867 91 0 0.00 60 44 42.31 - - - LEPR 0 genome.wustl.edu 37 1 66036458 66036458 + Missense_Mutation SNP G G A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 1 66036458 66036458 G A SNP LEPR ENST00000349533 human ensembl 69_37n +1 known missense c.343 p.V115I 0.058 NULL pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LEPR HGNC ENSG00000116678 132 0 0.00 71 12 14.46 - - - LMAN2 0 genome.wustl.edu 37 5 176778492 176778492 + Missense_Mutation SNP G G A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 5 176778492 176778492 G A SNP LMAN2 ENST00000303127 human ensembl 69_37n -1 known missense c.157 p.H53Y 1.000 pfam_Lectin_leg,superfamily_ConA-like_lec_gl pfam_Lectin_leg,superfamily_ConA-like_lec_gl - no_errors LMAN2 HGNC ENSG00000169223 37 0 0.00 34 34 50.00 - - - LRIT2 0 genome.wustl.edu 37 10 85984799 85984799 + Missense_Mutation SNP C C T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 10 85984799 85984799 C T SNP LRIT2 ENST00000538192 human ensembl 69_37n -1 known missense c.182 p.R61K 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIT2 HGNC ENSG00000204033 67 0 0.00 4 22 84.62 - - - LRRC27 0 genome.wustl.edu 37 10 134151186 134151186 + Missense_Mutation SNP A A G TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 10 134151186 134151186 A G SNP LRRC27 ENST00000368613 human ensembl 69_37n +1 known missense c.328 p.I110V 0.950 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC27 HGNC ENSG00000148814 93 0 0.00 35 39 52.70 - - - LRRC37A 0 genome.wustl.edu 37 17 44415042 44415042 + Missense_Mutation SNP G G T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 17 44415042 44415042 G T SNP LRRC37A ENST00000320254 human ensembl 69_37n +1 known missense c.5056 p.D1686Y 0.122 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A HGNC ENSG00000176681 65 0 0.00 78 22 21.78 - - - LRRC7 0 genome.wustl.edu 37 1 70460297 70460297 + Missense_Mutation SNP C C A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 1 70460297 70460297 C A SNP LRRC7 ENST00000035383 human ensembl 69_37n +1 known missense c.871 p.L291I 0.152 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 202 0 0.00 111 34 23.45 - - - LRRK1 0 genome.wustl.edu 37 15 101567954 101567954 + Nonsense_Mutation SNP G G T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 15 101567954 101567954 G T SNP LRRK1 ENST00000388948 human ensembl 69_37n +1 known nonsense c.2638 p.E880* 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors LRRK1 HGNC ENSG00000154237 15 0 0.00 64 13 16.67 - - - LRRTM1 0 genome.wustl.edu 37 2 80529665 80529665 + Missense_Mutation SNP T T A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 2 80529665 80529665 T A SNP LRRTM1 ENST00000295057 human ensembl 69_37n -1 known missense c.1280 p.K427M 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 19 0 0.00 30 15 32.61 - - - LSM14B 0 genome.wustl.edu 37 20 60705737 60705737 + Silent SNP G G T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 20 60705737 60705737 G T SNP LSM14B ENST00000253001 human ensembl 69_37n +1 known silent c.825 p.L275 1.000 NULL pfam_FDF_dom,superfamily_LSM_dom - no_errors LSM14B HGNC ENSG00000149657 118 0 0.00 81 26 24.30 - - - MAN1A1 0 genome.wustl.edu 37 6 119501033 119501033 + Missense_Mutation SNP A A G TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 6 119501033 119501033 A G SNP MAN1A1 ENST00000368468 human ensembl 69_37n -1 known missense c.1913 p.L638P 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1A1 HGNC ENSG00000111885 216 0 0.00 166 46 21.70 - - - MAP2K2 0 genome.wustl.edu 37 19 4117473 4117473 + Missense_Mutation SNP C C T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 19 4117473 4117473 C T SNP MAP2K2 ENST00000262948 human ensembl 69_37n -1 known missense c.247 p.G83S 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP2K2 HGNC ENSG00000126934 48 0 0.00 37 32 45.71 - - - MCOLN1 0 genome.wustl.edu 37 19 7589918 7589918 + Missense_Mutation SNP C C A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 19 7589918 7589918 C A SNP MCOLN1 ENST00000264079 human ensembl 69_37n +1 known missense c.103 p.P35T 0.015 NULL pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF - no_errors MCOLN1 HGNC ENSG00000090674 15 0 0.00 16 9 36.00 - - - MED13 0 genome.wustl.edu 37 17 60087928 60087928 + Missense_Mutation SNP A A T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 17 60087928 60087928 A T SNP MED13 ENST00000397786 human ensembl 69_37n -1 known missense c.1950 p.S650R 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 198 0 0.00 96 45 31.91 - - - MIB1 0 genome.wustl.edu 37 18 19438538 19438538 + Missense_Mutation SNP C C G TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 18 19438538 19438538 C G SNP MIB1 ENST00000261537 human ensembl 69_37n +1 known missense c.2811 p.D937E 1.000 NULL pfam_Ankyrin_rpt,pfam_Mib_Herc2,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ - no_errors MIB1 HGNC ENSG00000101752 161 0 0.00 100 23 18.55 - - - MICAL1 0 genome.wustl.edu 37 6 109766449 109766449 + Missense_Mutation SNP C C G TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 6 109766449 109766449 C G SNP MICAL1 ENST00000368952 human ensembl 69_37n -1 known missense c.2889 p.E963D 0.950 pfam_DUF3585 pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICAL1 HGNC ENSG00000135596 48 0 0.00 221 49 18.08 - - - MIR670 0 genome.wustl.edu 37 11 43581217 43581217 + RNA SNP G G A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 11 43581217 43581217 G A SNP MIR670 ENST00000390142 human ensembl 69_37n +1 known rna NULL NULL 0.994 - - - no_errors MIR670 HGNC ENSG00000211568 242 0 0.00 373 103 21.64 - - - MKRN1 0 genome.wustl.edu 37 7 140154472 140154472 + Missense_Mutation SNP A A T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 7 140154472 140154472 A T SNP MKRN1 ENST00000255977 human ensembl 69_37n -1 known missense c.1294 p.F432I 1.000 NULL pfam_Znf_CCCH,pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN1 HGNC ENSG00000133606 321 0 0.00 30 213 86.59 - - - MNDA 0 genome.wustl.edu 37 1 158818988 158818988 + Frame_Shift_Del DEL G G - TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 1 158818988 158818988 G - DEL MNDA ENST00000368141 human ensembl 69_37n +1 known frame_shift_del c.1185 p.A396fs 0.105 NULL pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors MNDA HGNC ENSG00000163563 269 0 0.00 137 28 16.77 - - - MUC16 0 genome.wustl.edu 37 19 9050021 9050021 + Missense_Mutation SNP G G A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 19 9050021 9050021 G A SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.31610 p.T10537M 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 391 0 0.00 76 706 89.94 - - - MUC16 0 genome.wustl.edu 37 19 9087467 9087467 + Missense_Mutation SNP G G T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 19 9087467 9087467 G T SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.4348 p.Q1450K 0.200 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 103 0 0.00 97 71 42.26 - - - MYBL2 0 genome.wustl.edu 37 20 42343796 42343796 + Missense_Mutation SNP C C A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 20 42343796 42343796 C A SNP MYBL2 ENST00000217026 human ensembl 69_37n +1 known missense c.1847 p.S616Y 0.039 NULL pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL2 HGNC ENSG00000101057 113 0 0.00 15 42 73.68 - - - MYH14 0 genome.wustl.edu 37 19 50805047 50805047 + Missense_Mutation SNP C C A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 19 50805047 50805047 C A SNP MYH14 ENST00000262269 human ensembl 69_37n +1 known missense c.5599 p.R1867S 0.997 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,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 MYH14 HGNC ENSG00000105357 10 0 0.00 33 17 34.00 - - - MYH6 0 genome.wustl.edu 37 14 23874978 23874978 + Missense_Mutation SNP G G A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 14 23874978 23874978 G A SNP MYH6 ENST00000356287 human ensembl 69_37n -1 known missense c.203 p.T68M 1.000 pfam_Myosin_N pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 89 0 0.00 49 41 45.56 - - - MYOM1 0 genome.wustl.edu 37 18 3094191 3094191 + Missense_Mutation SNP C C G TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 18 3094191 3094191 C G SNP MYOM1 ENST00000356443 human ensembl 69_37n -1 known missense c.3841 p.E1281Q 1.000 smart_Ig_sub pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM1 HGNC ENSG00000101605 198 0 0.00 171 45 20.83 - - - NBPF14 0 genome.wustl.edu 37 1 148004597 148004597 + Missense_Mutation SNP A A T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 1 148004597 148004597 A T SNP NBPF14 ENST00000369219 human ensembl 69_37n -1 known missense c.2717 p.V906E 0.000 NULL pfam_NBPF_dom - no_errors NBPF14 HGNC ENSG00000122497 495 1 0.20 370 91 19.61 - - - NIPBL 0 genome.wustl.edu 37 5 37008133 37008134 + Frame_Shift_Ins INS - - T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 5 37008133 37008134 - T INS NIPBL ENST00000282516 human ensembl 69_37n +1 known frame_shift_ins c.4263_4264 p.V1423fs 0.998:1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 263 0 0.00 71 75 51.37 - - - NLRP8 0 genome.wustl.edu 37 19 56485096 56485096 + Missense_Mutation SNP C C G TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 19 56485096 56485096 C G SNP NLRP8 ENST00000291971 human ensembl 69_37n +1 known missense c.2613 p.H871Q 0.773 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC ENSG00000179709 50 0 0.00 7 66 90.41 - - - NR6A1 0 genome.wustl.edu 37 9 127316795 127316795 + Missense_Mutation SNP C C T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 9 127316795 127316795 C T SNP NR6A1 ENST00000487099 human ensembl 69_37n -1 known missense c.197 p.R66H 0.999 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt 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 - no_errors NR6A1 HGNC ENSG00000148200 31 0 0.00 37 23 38.33 - - - ODZ1 0 genome.wustl.edu 37 X 123630946 123630946 + Silent SNP A A G TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 X 123630946 123630946 A G SNP ODZ1 ENST00000422452 human ensembl 69_37n -1 known silent c.3615 p.D1205 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD - no_errors ODZ1 HGNC ENSG00000009694 175 0 0.00 75 47 38.52 - - - OR13G1 0 genome.wustl.edu 37 1 247836055 247836055 + Missense_Mutation SNP G G T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 1 247836055 247836055 G T SNP OR13G1 ENST00000359688 human ensembl 69_37n -1 known missense c.289 p.Q97K 0.959 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR13G1 HGNC ENSG00000197437 39 0 0.00 99 23 18.70 - - - OR2T2 0 genome.wustl.edu 37 1 248616764 248616764 + Silent SNP C C T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 1 248616764 248616764 C T SNP OR2T2 ENST00000342927 human ensembl 69_37n +1 known silent c.666 p.I222 0.001 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2T2 HGNC ENSG00000196240 87 0 0.00 42 18 30.00 - - - OR5B17 0 genome.wustl.edu 37 11 58125977 58125977 + Missense_Mutation SNP T T C TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 11 58125977 58125977 T C SNP OR5B17 ENST00000357377 human ensembl 69_37n -1 known missense c.566 p.E189G 0.906 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 OR5B17 HGNC ENSG00000197786 61 0 0.00 21 46 68.66 - - - OR6K2 0 genome.wustl.edu 37 1 158669493 158669493 + Missense_Mutation SNP G G T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 1 158669493 158669493 G T SNP OR6K2 ENST00000359610 human ensembl 69_37n -1 known missense c.950 p.P317Q 0.001 NULL pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR6K2 HGNC ENSG00000196171 172 0 0.00 79 55 40.74 - - - PCYT1B 0 genome.wustl.edu 37 X 24608286 24608286 + Missense_Mutation SNP T T C TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 X 24608286 24608286 T C SNP PCYT1B ENST00000379144 human ensembl 69_37n -1 known missense c.340 p.S114G 1.000 pfam_Cytidylyltransf,tigrfam_Cyt_trans-rel pfam_Cytidylyltransf,tigrfam_Cyt_trans-rel - no_errors PCYT1B HGNC ENSG00000102230 106 0 0.00 12 60 83.33 - - - PLEKHA5 0 genome.wustl.edu 37 12 19511185 19511185 + Silent SNP A A G TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 12 19511185 19511185 A G SNP PLEKHA5 ENST00000317589 human ensembl 69_37n +1 known silent c.2853 p.E951 0.047 NULL pfam_Pleckstrin_homology,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP - no_errors PLEKHA5 HGNC ENSG00000052126 120 0 0.00 93 56 37.09 - - - PRICKLE1 0 genome.wustl.edu 37 12 42853647 42853647 + Missense_Mutation SNP T T G TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 12 42853647 42853647 T G SNP PRICKLE1 ENST00000345127 human ensembl 69_37n -1 known missense c.2460 p.K820N 1.000 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE1 HGNC ENSG00000139174 350 0 0.00 215 190 46.68 - - - PRPF4B 0 genome.wustl.edu 37 6 4032461 4032461 + Missense_Mutation SNP G G C TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 6 4032461 4032461 G C SNP PRPF4B ENST00000337659 human ensembl 69_37n +1 known missense c.710 p.R237T 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 PRPF4B HGNC ENSG00000112739 109 0 0.00 52 39 42.86 - - - RARRES1 0 genome.wustl.edu 37 3 158431599 158431600 + Frame_Shift_Ins INS - - T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 3 158431599 158431600 - T INS RARRES1 ENST00000237696 human ensembl 69_37n -1 known frame_shift_ins c.326_325 p.R109fs 0.001:0.000 pfam_Prot_inh_latexin,pirsf_Prot_inh_latexin pfam_Prot_inh_latexin,pirsf_Prot_inh_latexin - no_errors RARRES1 HGNC ENSG00000118849 150 0 0.00 170 60 26.09 - - - RC3H1 0 genome.wustl.edu 37 1 173916616 173916616 + Silent SNP C C G TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 1 173916616 173916616 C G SNP RC3H1 ENST00000258349 human ensembl 69_37n -1 known silent c.2628 p.V876 0.077 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H1 HGNC ENSG00000135870 201 0 0.00 197 45 18.60 - - - RNF26 0 genome.wustl.edu 37 11 119206393 119206393 + Silent SNP C C T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 11 119206393 119206393 C T SNP RNF26 ENST00000311413 human ensembl 69_37n +1 known silent c.561 p.F187 0.991 NULL pfscan_Znf_RING - no_errors RNF26 HGNC ENSG00000173456 39 0 0.00 7 70 90.91 - - - RNPC3 0 genome.wustl.edu 37 1 104068843 104068843 + Missense_Mutation SNP G G C TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 1 104068843 104068843 G C SNP RNPC3 ENST00000423855 human ensembl 69_37n +1 known missense c.151 p.G51R 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RNPC3 HGNC ENSG00000185946 43 0 0.00 44 22 33.33 - - - ROBO1 0 genome.wustl.edu 37 3 78737828 78737828 + Silent SNP T T A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 3 78737828 78737828 T A SNP ROBO1 ENST00000464233 human ensembl 69_37n -1 known silent c.1140 p.P380 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like 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 ROBO1 HGNC ENSG00000169855 153 0 0.00 19 74 79.57 - - - RPTOR 0 genome.wustl.edu 37 17 78811786 78811786 + Missense_Mutation SNP A A T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 17 78811786 78811786 A T SNP RPTOR ENST00000306801 human ensembl 69_37n +1 known missense c.1201 p.T401S 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 20 0 0.00 32 13 28.89 - - - RYR2 0 genome.wustl.edu 37 1 237801707 237801707 + Silent SNP G G A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 1 237801707 237801707 G A SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known silent c.6837 p.V2279 0.080 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 376 0 0.00 564 111 16.37 - - - RYR2 0 genome.wustl.edu 37 1 237947615 237947615 + Missense_Mutation SNP G G T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 1 237947615 237947615 G T SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known missense c.12621 p.Q4207H 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 55 0 0.00 212 32 13.11 - - - RYR3 0 genome.wustl.edu 37 15 34034597 34034597 + Missense_Mutation SNP C C G TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 15 34034597 34034597 C G SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known missense c.7851 p.I2617M 0.203 pfam_Ryanodine_rcpt,superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 157 0 0.00 18 32 64.00 - - - SEMA3C 0 genome.wustl.edu 37 7 80447661 80447661 + Missense_Mutation SNP G G A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 7 80447661 80447661 G A SNP SEMA3C ENST00000544525 human ensembl 69_37n -1 known missense c.455 p.A152V 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 145 0 0.00 65 25 27.78 - - - SEMA3C 0 genome.wustl.edu 37 7 80447662 80447662 + Missense_Mutation SNP C C T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 7 80447662 80447662 C T SNP SEMA3C ENST00000544525 human ensembl 69_37n -1 known missense c.454 p.A152T 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 147 0 0.00 66 25 27.47 - - - SHE 0 genome.wustl.edu 37 1 154458425 154458425 + Missense_Mutation SNP G G A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 1 154458425 154458425 G A SNP SHE ENST00000304760 human ensembl 69_37n -1 known missense c.1295 p.A432V 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHE HGNC ENSG00000169291 111 0 0.00 96 30 23.62 - - - SIGLEC6 0 genome.wustl.edu 37 19 52034507 52034507 + Silent SNP G G T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 19 52034507 52034507 G T SNP SIGLEC6 ENST00000425629 human ensembl 69_37n -1 known silent c.334 p.R112 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC6 HGNC ENSG00000105492 85 0 0.00 6 92 93.88 - - - SLC28A3 0 genome.wustl.edu 37 9 86902989 86902989 + Silent SNP G G T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 9 86902989 86902989 G T SNP SLC28A3 ENST00000376238 human ensembl 69_37n -1 known silent c.1254 p.L418 0.930 pfam_Nucleos_tra2_C,tigrfam_C_nuclsd_transpt_met_bac pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac - no_errors SLC28A3 HGNC ENSG00000197506 362 0 0.00 40 145 78.38 - - - SLC30A1 0 genome.wustl.edu 37 1 211751857 211751857 + Missense_Mutation SNP G G A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 1 211751857 211751857 G A SNP SLC30A1 ENST00000367001 human ensembl 69_37n -1 known missense c.98 p.S33L 0.998 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A1 HGNC ENSG00000170385 15 0 0.00 19 9 32.14 - - - SLC44A3 0 genome.wustl.edu 37 1 95330335 95330335 + Silent SNP G G C TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 1 95330335 95330335 G C SNP SLC44A3 ENST00000271227 human ensembl 69_37n +1 known silent c.1275 p.S425 0.005 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A3 HGNC ENSG00000143036 233 0 0.00 73 46 38.33 - - - SLC9A2 0 genome.wustl.edu 37 2 103321040 103321040 + Missense_Mutation SNP C C G TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 2 103321040 103321040 C G SNP SLC9A2 ENST00000233969 human ensembl 69_37n +1 known missense c.1883 p.T628R 0.987 prints_Na/H_exchanger_2,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A2 HGNC ENSG00000115616 87 0 0.00 186 39 17.26 - - - SMARCA2 0 genome.wustl.edu 37 9 2058393 2058393 + Missense_Mutation SNP C C G TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 9 2058393 2058393 C G SNP SMARCA2 ENST00000349721 human ensembl 69_37n +1 known missense c.1450 p.H484D 1.000 pfam_HSA,smart_HAS_subgr,pfscan_Helicase/SANT-assoc_DNA-bd 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 116 0 0.00 247 38 13.33 - - - SNAP91 0 genome.wustl.edu 37 6 84324580 84324580 + Missense_Mutation SNP C C T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 6 84324580 84324580 C T SNP SNAP91 ENST00000369694 human ensembl 69_37n -1 known missense c.880 p.E294K 1.000 NULL pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SNAP91 HGNC ENSG00000065609 184 0 0.00 57 69 54.76 - - - SPTA1 0 genome.wustl.edu 37 1 158646004 158646004 + Missense_Mutation SNP C C A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 1 158646004 158646004 C A SNP SPTA1 ENST00000368148 human ensembl 69_37n -1 known missense c.1039 p.D347Y 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 115 0 0.00 71 58 44.96 - - - SPTBN1 0 genome.wustl.edu 37 2 54859818 54859818 + Missense_Mutation SNP C C G TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 2 54859818 54859818 C G SNP SPTBN1 ENST00000356805 human ensembl 69_37n +1 known missense c.3680 p.A1227G 0.992 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 99 0 0.00 21 131 85.06 - - - STAC2 0 genome.wustl.edu 37 17 37369302 37369302 + Missense_Mutation SNP G G C TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 17 37369302 37369302 G C SNP STAC2 ENST00000333461 human ensembl 69_37n -1 known missense c.1077 p.C359W 0.994 superfamily_SH3_domain pfam_SH3_2,pfam_SH3_domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_SH3_domain,prints_p67phox - no_errors STAC2 HGNC ENSG00000141750 30 0 0.00 44 11 20.00 - - - SYNE1 0 genome.wustl.edu 37 6 152546921 152546921 + Missense_Mutation SNP C C G TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 6 152546921 152546921 C G SNP SYNE1 ENST00000265368 human ensembl 69_37n -1 known missense c.21286 p.V7096L 0.992 pfam_Spectrin_repeat,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 572 0 0.00 456 166 26.60 - - - SYNE3 0 genome.wustl.edu 37 14 95918641 95918641 + Missense_Mutation SNP G G A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 14 95918641 95918641 G A SNP SYNE3 ENST00000334258 human ensembl 69_37n -1 known missense c.1217 p.P406L 0.508 NULL pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC ENSG00000176438 37 0 0.00 4 47 92.16 - - - SYNGR4 0 genome.wustl.edu 37 19 48879377 48879377 + Silent SNP A A T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 19 48879377 48879377 A T SNP SYNGR4 ENST00000344846 human ensembl 69_37n +1 known silent c.507 p.R169 0.000 pirsf_Synaptogyrin pfam_MARVEL-like_dom,pirsf_Synaptogyrin - no_errors SYNGR4 HGNC ENSG00000105467 33 0 0.00 7 65 90.28 - - - TAF1 0 genome.wustl.edu 37 X 70604808 70604808 + Missense_Mutation SNP A A G TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 X 70604808 70604808 A G SNP TAF1 ENST00000449580 human ensembl 69_37n +1 known missense c.2132 p.D711G 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 300 0 0.00 23 116 83.45 - - - TBCCD1 0 genome.wustl.edu 37 3 186272045 186272045 + Silent SNP T T G TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 3 186272045 186272045 T G SNP TBCCD1 ENST00000338733 human ensembl 69_37n -1 known silent c.1542 p.T514 1.000 NULL pfam_Tubulin-bd_cofactor_C,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif - no_errors TBCCD1 HGNC ENSG00000113838 50 0 0.00 39 10 20.41 - - - TBX18 0 genome.wustl.edu 37 6 85457662 85457662 + Silent SNP G G T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 6 85457662 85457662 G T SNP TBX18 ENST00000369663 human ensembl 69_37n -1 known silent c.915 p.T305 0.975 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX18 HGNC ENSG00000112837 141 0 0.00 82 104 55.91 - - - TP53 0 genome.wustl.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 17 7578212 7578212 G A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known nonsense c.637 p.R213* 0.893 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 167 0 0.00 26 142 84.02 - - - TRBV30 0 genome.wustl.edu 37 7 142510440 142510440 + Missense_Mutation SNP C C G TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 7 142510440 142510440 C G SNP TRBV30 ENST00000417977 human ensembl 69_37n -1 known missense c.166 p.A56P 0.008 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon:bad_bp_length_for_coding_region TRBV30 HGNC ENSG00000237254 43 0 0.00 35 20 36.36 - - - TRIM41 0 genome.wustl.edu 37 5 180661772 180661772 + Silent SNP T T C TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 5 180661772 180661772 T C SNP TRIM41 ENST00000315073 human ensembl 69_37n +1 known silent c.1890 p.P630 0.994 superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_DUF3631,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM41 HGNC ENSG00000146063 34 0 0.00 36 34 48.57 - - - TRIM56 0 genome.wustl.edu 37 7 100730642 100730642 + Missense_Mutation SNP G G T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 7 100730642 100730642 G T SNP TRIM56 ENST00000306085 human ensembl 69_37n +1 known missense c.49 p.D17Y 0.954 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM56 HGNC ENSG00000169871 11 0 0.00 30 7 18.92 - - - WDFY4 0 genome.wustl.edu 37 10 50022127 50022127 + Missense_Mutation SNP G G C TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 10 50022127 50022127 G C SNP WDFY4 ENST00000325239 human ensembl 69_37n +1 known missense c.5340 p.Q1780H 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 16 0 0.00 35 13 27.08 - - - WDR17 0 genome.wustl.edu 37 4 177036997 177036998 + Frame_Shift_Ins INS - - A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 4 177036997 177036998 - A INS WDR17 ENST00000280190 human ensembl 69_37n +1 known frame_shift_ins c.246_247 p.T84fs 1.000:1.000 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 WDR17 HGNC ENSG00000150627 295 0 0.00 81 24 22.86 - - - YSK4 0 genome.wustl.edu 37 2 135744731 135744731 + Missense_Mutation SNP T T G TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 2 135744731 135744731 T G SNP YSK4 ENST00000375845 human ensembl 69_37n -1 known missense c.1711 p.T571P 0.085 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 YSK4 HGNC ENSG00000176601 227 0 0.00 121 69 36.32 - - - ZBBX 0 genome.wustl.edu 37 3 167023671 167023671 + Missense_Mutation SNP T T A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 3 167023671 167023671 T A SNP ZBBX ENST00000307529 human ensembl 69_37n -1 known missense c.1485 p.K495N 0.000 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 221 0 0.00 135 27 16.56 - - - ZC3HAV1 0 genome.wustl.edu 37 7 138732379 138732379 + Silent SNP C C A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 7 138732379 138732379 C A SNP ZC3HAV1 ENST00000242351 human ensembl 69_37n -1 known silent c.2670 p.V890 1.000 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors ZC3HAV1 HGNC ENSG00000105939 119 0 0.00 40 29 42.03 - - - ZNF761 0 genome.wustl.edu 37 19 53959355 53959355 + RNA SNP A A T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 19 53959355 53959355 A T SNP ZNF761 ENST00000334095 human ensembl 69_37n +1 known rna NULL NULL 0.010 - - - no_errors ZNF761 HGNC ENSG00000160336 94 0 0.00 38 60 61.22 - - - ZNF761 0 genome.wustl.edu 37 19 53959652 53959652 + RNA SNP G G A TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 987528ac-437a-4eb8-a335-4f2076d5c006 0c4d979c-75f8-49bd-8e65-f980cbeae267 19 53959652 53959652 G A SNP ZNF761 ENST00000334095 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors ZNF761 HGNC ENSG00000160336 182 0 0.00 136 43 24.02 - - -