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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ABHD13 84945 genome.wustl.edu 37 13 108882391 108882391 + Missense_Mutation SNP G G C TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 13 108882391 108882391 G C SNP ABHD13 ENST00000375898 human ensembl 70_37 +1 known missense c.825 p.M275I 1.000 NULL pfam_AB_hydrolase_1,pfam_AXE1 - no_errors ABHD13 HGNC ADAMTS19 171019 genome.wustl.edu 37 5 128994312 128994312 + Missense_Mutation SNP A A T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 5 128994312 128994312 A T SNP ADAMTS19 ENST00000274487 human ensembl 70_37 +1 known missense c.2289 p.K763N 0.998 prints_Peptidase_M12B_ADAM-TS pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ADAMTS19 171019 genome.wustl.edu 37 5 129072808 129072808 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 5 129072808 129072808 G A SNP ADAMTS19 ENST00000274487 human ensembl 70_37 +1 known missense c.3521 p.R1174Q 0.997 pfam_PLAC,pfscan_PLAC pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC AFF3 3899 genome.wustl.edu 37 2 100217938 100217938 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 2 100217938 100217938 C T SNP AFF3 ENST00000356421 human ensembl 70_37 -1 known missense c.1405 p.E469K 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ARMC4 55130 genome.wustl.edu 37 10 28250635 28250635 + Silent SNP A A C TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 10 28250635 28250635 A C SNP ARMC4 ENST00000305242 human ensembl 70_37 -1 known silent c.1248 p.A416 0.002 NULL pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ARNT2 9915 genome.wustl.edu 37 15 80762742 80762742 + Silent SNP C C A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 15 80762742 80762742 C A SNP ARNT2 ENST00000303329 human ensembl 70_37 +1 known silent c.378 p.G126 0.998 superfamily_HLH_dom pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNT2 HGNC ASMTL 8623 genome.wustl.edu 37 X 1540565 1540565 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e X 1540565 1540565 C T SNP ASMTL ENST00000381317 human ensembl 70_37 -1 known missense c.1231 p.E411K 0.023 pfam_O_MeTrfase_2 pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf - no_errors ASMTL HGNC ATP10A 57194 genome.wustl.edu 37 15 26108099 26108099 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 15 26108099 26108099 G A SNP ATP10A ENST00000356865 human ensembl 70_37 -1 known missense c.145 p.R49W 0.039 NULL 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 ATP10A HGNC BLMH 642 genome.wustl.edu 37 17 28601165 28601165 + Silent SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 17 28601165 28601165 G A SNP BLMH ENST00000261714 human ensembl 70_37 -1 known silent c.696 p.T232 1.000 pfam_Peptidase_C1B,pirsf_Peptidase_C1B pfam_Peptidase_C1B,pirsf_Peptidase_C1B - no_errors BLMH HGNC BPTF 2186 genome.wustl.edu 37 17 65822382 65822382 + Missense_Mutation SNP A A G TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 17 65822382 65822382 A G SNP BPTF ENST00000321892 human ensembl 70_37 +1 known missense c.542 p.D181G 0.999 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 C15orf56 644809 genome.wustl.edu 37 15 40544784 40544784 + Silent SNP C C A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 15 40544784 40544784 C A SNP C15orf56 ENST00000559727 human ensembl 70_37 -1 putative silent c.306 p.T102 0.020 NULL NULL - no_errors C15orf56 HGNC CCDC181 57821 genome.wustl.edu 37 1 169391134 169391134 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 1 169391134 169391134 C T SNP C1orf114 ENST00000367806 human ensembl 70_37 -1 known missense c.535 p.E179K 0.742 NULL NULL - no_errors C1orf114 HGNC CASKIN2 57513 genome.wustl.edu 37 17 73498651 73498651 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 17 73498651 73498651 C T SNP CASKIN2 ENST00000321617 human ensembl 70_37 -1 known missense c.2504 p.R835H 0.997 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN2 HGNC CCDC160 347475 genome.wustl.edu 37 X 133379541 133379541 + Silent SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e X 133379541 133379541 G A SNP CCDC160 ENST00000370809 human ensembl 70_37 +1 known silent c.711 p.E237 0.873 NULL NULL - no_errors CCDC160 HGNC CCDC41 51134 genome.wustl.edu 37 12 94729391 94729391 + Missense_Mutation SNP T T C TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 12 94729391 94729391 T C SNP CCDC41 ENST00000339839 human ensembl 70_37 -1 known missense c.1393 p.K465E 1.000 NULL NULL - no_errors CCDC41 HGNC CEP41 95681 genome.wustl.edu 37 7 130056775 130056775 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 7 130056775 130056775 C T SNP CEP41 ENST00000223208 human ensembl 70_37 -1 known missense c.130 p.E44K 1.000 NULL pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors CEP41 HGNC CFH 3075 genome.wustl.edu 37 1 196648881 196648881 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 1 196648881 196648881 G A SNP CFH ENST00000367429 human ensembl 70_37 +1 known missense c.748 p.V250I 0.000 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 CFH HGNC CFTR 1080 genome.wustl.edu 37 7 117232394 117232394 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 7 117232394 117232394 G A SNP CFTR ENST00000003084 human ensembl 70_37 +1 known missense c.2173 p.E725K 0.996 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 CHRNB1 1140 genome.wustl.edu 37 17 7357837 7357837 + Nonsense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 17 7357837 7357837 C T SNP CHRNB1 ENST00000306071 human ensembl 70_37 +1 known nonsense c.1042 p.Q348* 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB1 HGNC COL22A1 169044 genome.wustl.edu 37 8 139606405 139606405 + Silent SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 8 139606405 139606405 C T SNP COL22A1 ENST00000303045 human ensembl 70_37 -1 known silent c.4470 p.A1490 0.350 NULL pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC COL6A3 1293 genome.wustl.edu 37 2 238289881 238289881 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 2 238289881 238289881 G A SNP COL6A3 ENST00000295550 human ensembl 70_37 -1 known missense c.1574 p.T525M 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC CROCCP2 84809 genome.wustl.edu 37 1 16946492 16946492 + RNA SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 1 16946492 16946492 C T SNP CROCCP2 ENST00000412962 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CROCCP2 HGNC CT45A5 441521 genome.wustl.edu 37 X 134948146 134948146 + Missense_Mutation SNP G G T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e X 134948146 134948146 G T SNP CT45A5 ENST00000370724 human ensembl 70_37 -1 known missense c.179 p.T60K 0.001 NULL superfamily_RmlC_Cupin - no_errors CT45A5 HGNC CXorf67 340602 genome.wustl.edu 37 X 51150397 51150397 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e X 51150397 51150397 C T SNP CXorf67 ENST00000342995 human ensembl 70_37 +1 known missense c.529 p.P177S 0.000 NULL NULL - no_errors CXorf67 HGNC CYLC2 1539 genome.wustl.edu 37 9 105767775 105767775 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 9 105767775 105767775 G A SNP CYLC2 ENST00000374798 human ensembl 70_37 +1 putative missense c.862 p.V288I 0.000 NULL NULL - no_errors CYLC2 HGNC DARS2 55157 genome.wustl.edu 37 1 173795921 173795921 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 1 173795921 173795921 G A SNP DARS2 ENST00000361951 human ensembl 70_37 +1 known missense c.224 p.R75Q 1.000 pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,tigrfam_Asp-tRNA-ligase_IIb_bac/mt pfam_aa-tRNA-synt_II,pfam_GAD_dom,pfam_NA-bd_OB_tRNA-helicase,superfamily_GAD_dom,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,prints_Lys-tRNA-synth_II_C,tigrfam_Asp-tRNA-ligase_IIb_bac/mt - no_errors DARS2 HGNC DHX9 1660 genome.wustl.edu 37 1 182844012 182844012 + Missense_Mutation SNP C C G TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 1 182844012 182844012 C G SNP DHX9 ENST00000367549 human ensembl 70_37 +1 known missense c.1738 p.Q580E 1.000 NULL pfam_Ds-RNA-bd,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Ds-RNA-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd - no_errors DHX9 HGNC DMD 1756 genome.wustl.edu 37 X 33357379 33357379 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e X 33357379 33357379 C T SNP DMD ENST00000288447 human ensembl 70_37 -1 putative missense c.4 p.E2K 1.000 superfamily_CH-domain pfam_CH-domain,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain - no_errors DMD HGNC DNAJC21 134218 genome.wustl.edu 37 5 34950383 34950383 + Nonsense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 5 34950383 34950383 C T SNP DNAJC21 ENST00000382021 human ensembl 70_37 +1 known nonsense c.1429 p.Q477* 0.971 NULL pfam_DnaJ_N,pfam_Znf_C2H2_jaz,superfamily_DnaJ_N,smart_DnaJ_N,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC21 HGNC DPP8 54878 genome.wustl.edu 37 15 65759495 65759495 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 15 65759495 65759495 G A SNP DPP8 ENST00000341861 human ensembl 70_37 -1 known missense c.1651 p.H551Y 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP8 HGNC DPPA3 359787 genome.wustl.edu 37 12 7868012 7868012 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 12 7868012 7868012 G A SNP DPPA3 ENST00000345088 human ensembl 70_37 +1 known missense c.316 p.G106R 0.000 NULL NULL - no_errors DPPA3 HGNC DSCAML1 57453 genome.wustl.edu 37 11 117387317 117387317 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 11 117387317 117387317 G A SNP DSCAML1 ENST00000321322 human ensembl 70_37 -1 known missense c.1828 p.R610C 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,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 DSCAML1 HGNC EFCAB6 64800 genome.wustl.edu 37 22 44193200 44193200 + RNA SNP T T C TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 22 44193200 44193200 T C SNP EFCAB6 ENST00000476600 human ensembl 70_37 -1 known rna NULL NULL 0.104 - - - no_errors EFCAB6 HGNC ENPP7 339221 genome.wustl.edu 37 17 77709214 77709214 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 17 77709214 77709214 G A SNP ENPP7 ENST00000328313 human ensembl 70_37 +1 known missense c.772 p.D258N 0.972 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core - no_errors ENPP7 HGNC ENSG00000233145 0 genome.wustl.edu 37 X 139099890 139099890 + RNA SNP A A T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e X 139099890 139099890 A T SNP ENSG00000233145 ENST00000417426 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-364B14.1 Clone_based_vega_gene ENSG00000248666 0 genome.wustl.edu 37 9 130457332 130457333 + RNA INS - - TGA TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 9 130457332 130457333 - TGA INS ENSG00000248666 ENST00000335223 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-56D16.2 Clone_based_vega_gene EP300 2033 genome.wustl.edu 37 22 41572870 41572870 + Nonsense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 22 41572870 41572870 C T SNP EP300 ENST00000263253 human ensembl 70_37 +1 known nonsense c.5155 p.Q1719* 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 EP300 HGNC EP400NL 347918 genome.wustl.edu 37 12 132610547 132610547 + RNA SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 12 132610547 132610547 C T SNP EP400NL ENST00000475841 human ensembl 70_37 +1 known rna NULL NULL 0.176 - - - no_errors EP400NL HGNC ERBB2 2064 genome.wustl.edu 37 17 37868208 37868208 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 17 37868208 37868208 C T SNP ERBB2 ENST00000269571 human ensembl 70_37 +1 known missense c.929 p.S310F 1.000 pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB2 HGNC FBXO11 80204 genome.wustl.edu 37 2 48059543 48059543 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 2 48059543 48059543 C T SNP FBXO11 ENST00000403359 human ensembl 70_37 -1 known missense c.1343 p.R448Q 1.000 superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1,tigrfam_Para_beta_helix_rpt-2 pfam_Znf_N-recognin,pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom_cyclin-like,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO11 HGNC FLG 2312 genome.wustl.edu 37 1 152285314 152285314 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 1 152285314 152285314 C T SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.2048 p.R683H 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC FOXN4 121643 genome.wustl.edu 37 12 109728038 109728038 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 12 109728038 109728038 G A SNP FOXN4 ENST00000299162 human ensembl 70_37 -1 known missense c.140 p.S47L 0.982 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN4 HGNC GIP 2695 genome.wustl.edu 37 17 47044537 47044537 + Missense_Mutation SNP G G T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 17 47044537 47044537 G T SNP GIP ENST00000357424 human ensembl 70_37 -1 known missense c.58 p.L20I 0.059 NULL pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP - no_errors GIP HGNC GLTPD1 80772 genome.wustl.edu 37 1 1263337 1263337 + RNA SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 1 1263337 1263337 C T SNP GLTPD1 ENST00000464957 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors GLTPD1 HGNC GNPTAB 79158 genome.wustl.edu 37 12 102159990 102159990 + Silent SNP T T A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 12 102159990 102159990 T A SNP GNPTAB ENST00000299314 human ensembl 70_37 -1 known silent c.1491 p.G497 0.992 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom - no_errors GNPTAB HGNC GNPTAB 79158 genome.wustl.edu 37 12 102159991 102159991 + Missense_Mutation SNP C C A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 12 102159991 102159991 C A SNP GNPTAB ENST00000299314 human ensembl 70_37 -1 known missense c.1490 p.G497V 0.992 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom - no_errors GNPTAB HGNC GRIA3 2892 genome.wustl.edu 37 X 122538637 122538637 + Missense_Mutation SNP C C A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e X 122538637 122538637 C A SNP GRIA3 ENST00000264357 human ensembl 70_37 +1 known missense c.1372 p.L458I 1.000 pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd 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 GULP1 51454 genome.wustl.edu 37 2 189387534 189387534 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 2 189387534 189387534 G A SNP GULP1 ENST00000359135 human ensembl 70_37 +1 known missense c.142 p.D48N 1.000 pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom - no_errors GULP1 HGNC HCN1 348980 genome.wustl.edu 37 5 45695897 45695897 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 5 45695897 45695897 G A SNP HCN1 ENST00000303230 human ensembl 70_37 -1 known missense c.299 p.S100F 1.000 pfam_Ion_trans_N pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC HIST1H1B 3009 genome.wustl.edu 37 6 27834744 27834744 + Missense_Mutation SNP C C G TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 6 27834744 27834744 C G SNP HIST1H1B ENST00000331442 human ensembl 70_37 -1 known missense c.564 p.K188N 1.000 NULL pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1B HGNC HOXC4 3221 genome.wustl.edu 37 12 54447821 54447821 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 12 54447821 54447821 C T SNP HOXC4 ENST00000303406 human ensembl 70_37 +1 known missense c.115 p.R39W 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXC4 HGNC HTR4 3360 genome.wustl.edu 37 5 147929786 147929786 + Silent SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 5 147929786 147929786 C T SNP HTR4 ENST00000360693 human ensembl 70_37 -1 known silent c.66 p.L22 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt,prints_GPCR_Rhodpsn - no_errors HTR4 HGNC IL1RAP 3556 genome.wustl.edu 37 3 190374255 190374255 + Silent SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 3 190374255 190374255 C T SNP IL1RAP ENST00000443369 human ensembl 70_37 +1 known silent c.1923 p.L641 0.980 NULL pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II - no_errors IL1RAP HGNC JAG2 3714 genome.wustl.edu 37 14 105618303 105618303 + Silent SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 14 105618303 105618303 G A SNP JAG2 ENST00000331782 human ensembl 70_37 -1 known silent c.1011 p.D337 0.725 pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C - no_errors JAG2 HGNC KCNH3 23416 genome.wustl.edu 37 12 49951381 49951381 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 12 49951381 49951381 C T SNP KCNH3 ENST00000257981 human ensembl 70_37 +1 known missense c.2897 p.P966L 0.948 NULL pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH3 HGNC KCNRG 283518 genome.wustl.edu 37 13 50594391 50594391 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 13 50594391 50594391 G A SNP KCNRG ENST00000312942 human ensembl 70_37 +1 known missense c.620 p.G207E 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCNRG HGNC KDM6A 7403 genome.wustl.edu 37 X 44911048 44911048 + Splice_Site SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e X 44911048 44911048 G A SNP KDM6A ENST00000382899 human ensembl 70_37 +1 known splice_site c.748+1 e9+1 1.000 - - - no_errors KDM6A HGNC KIAA1755 85449 genome.wustl.edu 37 20 36869138 36869138 + Silent SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 20 36869138 36869138 C T SNP KIAA1755 ENST00000279024 human ensembl 70_37 -1 known silent c.1395 p.E465 0.000 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC KIRREL2 84063 genome.wustl.edu 37 19 36348063 36348063 + Silent SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 19 36348063 36348063 C T SNP KIRREL2 ENST00000360202 human ensembl 70_37 +1 known silent c.42 p.F14 0.998 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors KIRREL2 HGNC KRT38 8687 genome.wustl.edu 37 17 39594972 39594972 + Missense_Mutation SNP C C A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 17 39594972 39594972 C A SNP KRT38 ENST00000246646 human ensembl 70_37 -1 known missense c.871 p.V291L 0.544 pfam_F pfam_F,prints_Keratin_I - no_errors KRT38 HGNC LACTBL1 646262 genome.wustl.edu 37 1 23279692 23279692 + Silent SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 1 23279692 23279692 G A SNP LACTBL1 ENST00000426928 human ensembl 70_37 -1 putative silent c.1485 p.L495 0.000 NULL pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like - no_errors LACTBL1 HGNC LIG4 3981 genome.wustl.edu 37 13 108861664 108861664 + Silent SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 13 108861664 108861664 G A SNP LIG4 ENST00000356922 human ensembl 70_37 -1 known silent c.1953 p.N651 0.000 superfamily_BRCT_dom pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG4 HGNC LOC101060787 101060787 genome.wustl.edu 37 22 20709962 20709962 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 22 20709962 20709962 C T SNP LOC101060787 ENST00000434783 human ensembl 70_37 +1 putative missense c.1694 p.S565L 0.609 superfamily_Kinase-like_dom pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors AC007731.1 Clone_based_vega_gene LOC641367 641367 genome.wustl.edu 37 19 21934344 21934344 + RNA SNP G G T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 19 21934344 21934344 G T SNP LOC641367 ENST00000596710 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-420K14.6 Clone_based_vega_gene LOC728741 728741 genome.wustl.edu 37 16 28354507 28354507 + Silent SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 16 28354507 28354507 G A SNP LOC728741 ENST00000532254 human ensembl 70_37 -1 novel silent c.699 p.V233 0.003 pfam_NPIP pfam_NPIP - no_errors A-575C2.4 Uniprot_genename LRRC14B 389257 genome.wustl.edu 37 5 191752 191752 + Silent SNP C C G TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 5 191752 191752 C G SNP LRRC14B ENST00000328278 human ensembl 70_37 +1 novel silent c.99 p.L33 1.000 NULL NULL - no_errors LRRC14B HGNC MAGED2 10916 genome.wustl.edu 37 X 54839587 54839587 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e X 54839587 54839587 G A SNP MAGED2 ENST00000218439 human ensembl 70_37 +1 known missense c.1202 p.R401H 1.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGED2 HGNC MAGI2 9863 genome.wustl.edu 37 7 77789556 77789556 + Silent SNP G G C TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 7 77789556 77789556 G C SNP MAGI2 ENST00000354212 human ensembl 70_37 -1 known silent c.2631 p.G877 1.000 NULL pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI2 HGNC MAGT1 84061 genome.wustl.edu 37 X 77131014 77131014 + Silent SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e X 77131014 77131014 G A SNP MAGT1 ENST00000358075 human ensembl 70_37 -1 known silent c.279 p.F93 0.965 superfamily_Thioredoxin-like_fold pfam_OligosaccharylTrfase_OST3/OST6,superfamily_Thioredoxin-like_fold - no_errors MAGT1 HGNC MAP3K15 389840 genome.wustl.edu 37 X 19392605 19392605 + Silent SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e X 19392605 19392605 G A SNP MAP3K15 ENST00000338883 human ensembl 70_37 -1 known silent c.2763 p.F921 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K15 HGNC MAP4K2 5871 genome.wustl.edu 37 11 64567842 64567842 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 11 64567842 64567842 G A SNP MAP4K2 ENST00000294066 human ensembl 70_37 -1 known missense c.748 p.L250F 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_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MAP4K2 HGNC MAPK11 5600 genome.wustl.edu 37 22 50705350 50705350 + Missense_Mutation SNP C C A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 22 50705350 50705350 C A SNP MAPK11 ENST00000449719 human ensembl 70_37 -1 known missense c.299 p.R100M 0.000 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 MAPK11 HGNC MEF2A 4205 genome.wustl.edu 37 15 100252710 100252715 + In_Frame_Del DEL CAGCAG CAGCAG - TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 CAGCAG CAGCAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 15 100252710 100252715 CAGCAG - DEL MEF2A ENST00000338042 human ensembl 70_37 +1 known in_frame_del c.1255_1260 p.QQ422in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2A HGNC MEGF8 1954 genome.wustl.edu 37 19 42860054 42860054 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 19 42860054 42860054 C T SNP MEGF8 ENST00000251268 human ensembl 70_37 +1 known missense c.4289 p.A1430V 0.991 smart_EG-like_dom,pfscan_EG-like_dom pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EG-like_dom,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC MIR604 693189 genome.wustl.edu 37 10 29833999 29833999 + RNA SNP G G T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 10 29833999 29833999 G T SNP MIR604 ENST00000384880 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors MIR604 HGNC MSRB3 253827 genome.wustl.edu 37 12 65857049 65857049 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 12 65857049 65857049 G A SNP MSRB3 ENST00000355192 human ensembl 70_37 +1 known missense c.526 p.E176K 0.001 NULL pfam_Met_Sox_Rdtase_MsrB,superfamily_Mss4-like,tigrfam_Met_Sox_Rdtase_MsrB - no_errors MSRB3 HGNC MTTP 4547 genome.wustl.edu 37 4 100528037 100528037 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 4 100528037 100528037 G A SNP MTTP ENST00000265517 human ensembl 70_37 +1 known missense c.1477 p.A493T 0.967 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors MTTP HGNC MYO10 4651 genome.wustl.edu 37 5 16755013 16755013 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 5 16755013 16755013 G A SNP MYO10 ENST00000513610 human ensembl 70_37 -1 known missense c.1853 p.S618L 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC MYO1H 283446 genome.wustl.edu 37 12 109838973 109838973 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 12 109838973 109838973 C T SNP MYO1H ENST00000431443 human ensembl 70_37 +1 known missense c.598 p.R200W 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1H HGNC MYOM2 9172 genome.wustl.edu 37 8 2037985 2037985 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 8 2037985 2037985 C T SNP MYOM2 ENST00000262113 human ensembl 70_37 +1 known missense c.1799 p.T600M 0.963 superfamily_Fibronectin_type3,pfscan_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 NLGN1 22871 genome.wustl.edu 37 3 173998546 173998546 + Missense_Mutation SNP A A G TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 3 173998546 173998546 A G SNP NLGN1 ENST00000401917 human ensembl 70_37 +1 known missense c.2045 p.N682S 1.000 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC NLRC3 197358 genome.wustl.edu 37 16 3611719 3611719 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 16 3611719 3611719 G A SNP NLRC3 ENST00000448023 human ensembl 70_37 -1 known missense c.2140 p.R714C 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC NOD2 64127 genome.wustl.edu 37 16 50745398 50745399 + Frame_Shift_Ins INS - - C TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 16 50745398 50745399 - C INS NOD2 ENST00000300589 human ensembl 70_37 +1 known frame_shift_ins c.1576_1577 p.D529fs 0.967:0.928 NULL pfam_CARD,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD2 HGNC NRCAM 4897 genome.wustl.edu 37 7 107790405 107790405 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 7 107790405 107790405 C T SNP NRCAM ENST00000379028 human ensembl 70_37 -1 known missense c.3865 p.E1289K 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 NRCAM HGNC OFD1 8481 genome.wustl.edu 37 X 13753462 13753462 + Silent SNP C C G TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e X 13753462 13753462 C G SNP OFD1 ENST00000340096 human ensembl 70_37 +1 known silent c.108 p.L36 0.998 NULL superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors OFD1 HGNC PACS2 23241 genome.wustl.edu 37 14 105848292 105848292 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 14 105848292 105848292 C T SNP PACS2 ENST00000458164 human ensembl 70_37 +1 known missense c.1310 p.S437F 0.994 NULL pfam_Phosphofurin_acidic_CS-1 - no_errors PACS2 HGNC PCDHA2 56146 genome.wustl.edu 37 5 140176333 140176333 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 5 140176333 140176333 G A SNP PCDHA2 ENST00000526136 human ensembl 70_37 +1 known missense c.1784 p.R595H 0.002 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC PCNXL4 64430 genome.wustl.edu 37 14 60591234 60591234 + Missense_Mutation SNP T T C TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 14 60591234 60591234 T C SNP PCNXL4 ENST00000404681 human ensembl 70_37 +1 known missense c.2345 p.V782A 0.004 NULL pfam_Pecanex - no_errors PCNXL4 HGNC PHF17 79960 genome.wustl.edu 37 4 129782960 129782960 + Silent SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 4 129782960 129782960 C T SNP PHF17 ENST00000226319 human ensembl 70_37 +1 known silent c.1083 p.F361 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF17 HGNC PLOD1 5351 genome.wustl.edu 37 1 12009848 12009848 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 1 12009848 12009848 G A SNP PLOD1 ENST00000376369 human ensembl 70_37 +1 known missense c.328 p.D110N 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD1 HGNC PLXNA3 55558 genome.wustl.edu 37 X 153694354 153694354 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e X 153694354 153694354 G A SNP PLXNA3 ENST00000369682 human ensembl 70_37 +1 known missense c.2609 p.R870Q 0.007 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt 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 PLXNA3 HGNC PLXNA4 91584 genome.wustl.edu 37 7 132193251 132193251 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 7 132193251 132193251 C T SNP PLXNA4 ENST00000321063 human ensembl 70_37 -1 known missense c.202 p.V68I 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag 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 PLXNA4 HGNC PPOX 5498 genome.wustl.edu 37 1 161139317 161139317 + RNA SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 1 161139317 161139317 C T SNP PPOX ENST00000462977 human ensembl 70_37 +1 known rna NULL NULL 0.104 - - - no_errors PPOX HGNC PTER 9317 genome.wustl.edu 37 10 16526606 16526606 + Nonsense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 10 16526606 16526606 C T SNP PTER ENST00000298942 human ensembl 70_37 +1 known nonsense c.223 p.Q75* 1.000 pfam_Aryldialkylphosphatase pfam_Aryldialkylphosphatase,pfam_TatD_family - no_errors PTER HGNC PTPRR 5801 genome.wustl.edu 37 12 71050540 71050540 + Silent SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 12 71050540 71050540 C T SNP PTPRR ENST00000283228 human ensembl 70_37 -1 known silent c.1824 p.L608 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_KIM-con pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRR HGNC RBMXL3 139804 genome.wustl.edu 37 X 114426138 114426138 + Nonsense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e X 114426138 114426138 C T SNP RBMXL3 ENST00000424776 human ensembl 70_37 +1 known nonsense c.2134 p.R712* 0.021 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC REG1B 5968 genome.wustl.edu 37 2 79312385 79312385 + Missense_Mutation SNP G G C TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 2 79312385 79312385 G C SNP REG1B ENST00000305089 human ensembl 70_37 -1 known missense c.458 p.S153C 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors REG1B HGNC RGPD3 653489 genome.wustl.edu 37 2 107041079 107041079 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 2 107041079 107041079 G A SNP RGPD3 ENST00000304514 human ensembl 70_37 -1 known missense c.3344 p.T1115M 0.998 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC SALL1 6299 genome.wustl.edu 37 16 51174607 51174607 + Missense_Mutation SNP T T C TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 16 51174607 51174607 T C SNP SALL1 ENST00000251020 human ensembl 70_37 -1 known missense c.1526 p.N509S 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC SAP130 79595 genome.wustl.edu 37 2 128783857 128783857 + Nonsense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 2 128783857 128783857 G A SNP SAP130 ENST00000357702 human ensembl 70_37 -1 known nonsense c.88 p.Q30* 1.000 NULL NULL - no_errors SAP130 HGNC SEC16A 9919 genome.wustl.edu 37 9 139342933 139342933 + Silent SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 9 139342933 139342933 G A SNP SEC16A ENST00000313084 human ensembl 70_37 -1 known silent c.99 p.I33 0.878 NULL NULL - no_errors SEC16A HGNC SKOR1 390598 genome.wustl.edu 37 15 68126105 68126105 + Silent SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 15 68126105 68126105 C T SNP SKOR1 ENST00000380035 human ensembl 70_37 +1 known silent c.2829 p.F943 1.000 NULL pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR1 HGNC SLC14A2 8170 genome.wustl.edu 37 18 43224124 43224124 + Silent SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 18 43224124 43224124 C T SNP SLC14A2 ENST00000255226 human ensembl 70_37 +1 known silent c.1350 p.S450 0.437 NULL pfam_Urea_transporter - no_errors SLC14A2 HGNC SLC27A5 10998 genome.wustl.edu 37 19 59022833 59022833 + Missense_Mutation SNP C C G TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 19 59022833 59022833 C G SNP SLC27A5 ENST00000263093 human ensembl 70_37 -1 known missense c.490 p.G164R 0.050 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A5 HGNC SLC35A5 55032 genome.wustl.edu 37 3 112299501 112299501 + Silent SNP A A G TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 3 112299501 112299501 A G SNP SLC35A5 ENST00000492406 human ensembl 70_37 +1 known silent c.537 p.G179 0.910 pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pfam_DUF250,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A5 HGNC SNORA19 641451 genome.wustl.edu 37 10 120819626 120819626 + RNA SNP G G C TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 10 120819626 120819626 G C SNP SNORA19 ENST00000384737 human ensembl 70_37 -1 known rna NULL NULL 0.987 - - - no_errors SNORA19 HGNC SNORD114-13 767591 genome.wustl.edu 37 14 101436281 101436281 + RNA SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 14 101436281 101436281 G A SNP SNORD114-13 ENST00000364377 human ensembl 70_37 +1 known rna NULL NULL 0.066 - - - no_errors SNORD114-13 HGNC SRRM4 84530 genome.wustl.edu 37 12 119563259 119563259 + Missense_Mutation SNP T T C TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 12 119563259 119563259 T C SNP SRRM4 ENST00000267260 human ensembl 70_37 +1 known missense c.589 p.S197P 0.779 NULL NULL - no_errors SRRM4 HGNC STARD6 147323 genome.wustl.edu 37 18 51858190 51858190 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 18 51858190 51858190 C T SNP STARD6 ENST00000307844 human ensembl 70_37 -1 known missense c.307 p.V103M 1.000 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd - no_errors STARD6 HGNC SUN2 25777 genome.wustl.edu 37 22 39135417 39135417 + Silent SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 22 39135417 39135417 G A SNP SUN2 ENST00000216064 human ensembl 70_37 -1 known silent c.1593 p.I531 0.042 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN2 HGNC SVIL 6840 genome.wustl.edu 37 10 29843713 29843713 + Silent SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 10 29843713 29843713 G A SNP SVIL ENST00000355867 human ensembl 70_37 -1 known silent c.159 p.I53 0.000 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece - no_errors SVIL HGNC SWSAP1 126074 genome.wustl.edu 37 19 11486566 11486566 + Silent SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 19 11486566 11486566 G A SNP SWSAP1 ENST00000312423 human ensembl 70_37 +1 known silent c.564 p.G188 0.001 NULL NULL - no_errors SWSAP1 HGNC SYN1 6853 genome.wustl.edu 37 X 47435556 47435556 + Missense_Mutation SNP T T G TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e X 47435556 47435556 T G SNP SYN1 ENST00000295987 human ensembl 70_37 -1 known missense c.1132 p.K378Q 1.000 pfam_Synapsin_ATP-bd_dom,pfam_ATP-grasp_RimK-type pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_fold,prints_Synapsin - no_errors SYN1 HGNC SYNDIG1 79953 genome.wustl.edu 37 20 24523745 24523745 + Silent SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 20 24523745 24523745 C T SNP SYNDIG1 ENST00000376862 human ensembl 70_37 +1 known silent c.12 p.I4 0.000 NULL pfam_Interferon-induced_TM_protein - no_errors SYNDIG1 HGNC TANC1 85461 genome.wustl.edu 37 2 160027048 160027048 + Silent SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 2 160027048 160027048 C T SNP TANC1 ENST00000263635 human ensembl 70_37 +1 known silent c.1083 p.P361 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC TBC1D24 57465 genome.wustl.edu 37 16 2546267 2546267 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 16 2546267 2546267 C T SNP TBC1D24 ENST00000293970 human ensembl 70_37 +1 known missense c.118 p.R40C 0.999 NULL pfam_TLDc,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,smart_TLDc - no_errors TBC1D24 HGNC TLR7 51284 genome.wustl.edu 37 X 12904954 12904954 + Missense_Mutation SNP G G T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e X 12904954 12904954 G T SNP TLR7 ENST00000380659 human ensembl 70_37 +1 known missense c.1327 p.G443C 0.921 NULL pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR7 HGNC TMEM30B 161291 genome.wustl.edu 37 14 61747570 61747570 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 14 61747570 61747570 G A SNP TMEM30B ENST00000355702 human ensembl 70_37 -1 known missense c.296 p.S99L 0.999 pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk - no_errors TMEM30B HGNC UNK 85451 genome.wustl.edu 37 17 73816073 73816073 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 17 73816073 73816073 C T SNP UNK ENST00000293218 human ensembl 70_37 +1 known missense c.1949 p.S650L 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNK HGNC USP11 8237 genome.wustl.edu 37 X 47104246 47104246 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e X 47104246 47104246 G A SNP USP11 ENST00000218348 human ensembl 70_37 +1 known missense c.2138 p.R713H 0.919 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP11 HGNC USP34 9736 genome.wustl.edu 37 2 61561086 61561086 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 2 61561086 61561086 C T SNP USP34 ENST00000398571 human ensembl 70_37 -1 known missense c.2765 p.R922H 1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP34 HGNC UTRN 7402 genome.wustl.edu 37 6 145051606 145051606 + Missense_Mutation SNP C C G TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 6 145051606 145051606 C G SNP UTRN ENST00000367545 human ensembl 70_37 +1 known missense c.7923 p.N2641K 0.908 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 WIZ 58525 genome.wustl.edu 37 19 15549853 15549853 + Missense_Mutation SNP G G T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 19 15549853 15549853 G T SNP WIZ ENST00000389282 human ensembl 70_37 -1 known missense c.1808 p.P603Q 0.991 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC WWOX 51741 genome.wustl.edu 37 16 78458774 78458774 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 16 78458774 78458774 C T SNP WWOX ENST00000566780 human ensembl 70_37 +1 known missense c.613 p.H205Y 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH pfam_WW_Rsp5_WWP,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP,prints_Glc/ribitol_DH - no_errors WWOX HGNC ZNF358 140467 genome.wustl.edu 37 19 7584278 7584278 + Silent SNP C C G TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 19 7584278 7584278 C G SNP ZNF358 ENST00000394341 human ensembl 70_37 +1 known silent c.150 p.L50 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF358 HGNC ZNF599 148103 genome.wustl.edu 37 19 35250659 35250659 + Silent SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 19 35250659 35250659 C T SNP ZNF599 ENST00000329285 human ensembl 70_37 -1 known silent c.1047 p.T349 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 ZNF599 HGNC ZNF746 155061 genome.wustl.edu 37 7 149171493 149171493 + Silent SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 7 149171493 149171493 G A SNP ZNF746 ENST00000458143 human ensembl 70_37 -1 known silent c.1920 p.T640 0.000 NULL 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 ZNF746 HGNC ZNF775 285971 genome.wustl.edu 37 7 150093838 150093838 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 7 150093838 150093838 G A SNP ZNF775 ENST00000329630 human ensembl 70_37 +1 known missense c.269 p.G90E 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF775 HGNC ZNF808 388558 genome.wustl.edu 37 19 53057757 53057757 + Missense_Mutation SNP C C T TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e026274-d385-4564-a813-d5e45e310088 e3b5f179-5533-4e21-80c8-30e8b2074f2e 19 53057757 53057757 C T SNP ZNF808 ENST00000359798 human ensembl 70_37 +1 known missense c.1588 p.R530C 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 ZNF808 HGNC