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 AACS 65985 genome.wustl.edu 37 12 125587612 125587612 + Nonsense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 125587612 125587612 C G SNP AACS ENST00000316519 human ensembl 70_37 +1 known nonsense c.752 p.S251* 0.998 pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Acac_CoA_synth - no_errors AACS HGNC AAK1 22848 genome.wustl.edu 37 2 69746217 69746217 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 69746217 69746217 G C SNP AAK1 ENST00000409085 human ensembl 70_37 -1 known missense c.1366 p.Q456E 0.990 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors AAK1 HGNC ABCA1 19 genome.wustl.edu 37 9 107578433 107578433 + Silent SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 107578433 107578433 G T SNP ABCA1 ENST00000374736 human ensembl 70_37 -1 known silent c.3729 p.T1243 0.954 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ABCA12 26154 genome.wustl.edu 37 2 215818592 215818592 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 215818592 215818592 C G SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known silent c.6633 p.L2211 0.629 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ABCA3 21 genome.wustl.edu 37 16 2376198 2376198 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 2376198 2376198 C T SNP ABCA3 ENST00000301732 human ensembl 70_37 -1 known silent c.132 p.L44 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ABCA5 23461 genome.wustl.edu 37 17 67246763 67246763 + Splice_Site SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 67246763 67246763 C G SNP ABCA5 ENST00000392677 human ensembl 70_37 -1 known splice_site c.4539-1 e35-1 1.000 - - - no_errors ABCA5 HGNC ABCB1 5243 genome.wustl.edu 37 7 87135251 87135251 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 87135251 87135251 C G SNP ABCB1 ENST00000265724 human ensembl 70_37 -1 known missense c.3598 p.D1200H 1.000 pfam_ABC_transporter-like,pfam_ABC_ATPase_put,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB1 HGNC ABCB11 8647 genome.wustl.edu 37 2 169826001 169826001 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 169826001 169826001 C T SNP ABCB11 ENST00000263817 human ensembl 70_37 -1 known missense c.1870 p.D624N 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB11 HGNC ABCC10 89845 genome.wustl.edu 37 6 43413544 43413544 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 43413544 43413544 C T SNP ABCC10 ENST00000372530 human ensembl 70_37 +1 known missense c.3238 p.H1080Y 0.020 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC10 HGNC ABCC11 85320 genome.wustl.edu 37 16 48209285 48209285 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 48209285 48209285 G A SNP ABCC11 ENST00000356608 human ensembl 70_37 -1 known silent c.3582 p.P1194 0.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC11 HGNC ABCC3 8714 genome.wustl.edu 37 17 48746594 48746594 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 48746594 48746594 G A SNP ABCC3 ENST00000285238 human ensembl 70_37 +1 known silent c.2031 p.E677 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC3 HGNC ABCC4 10257 genome.wustl.edu 37 13 95695857 95695857 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 95695857 95695857 C G SNP ABCC4 ENST00000484109 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ABCC4 HGNC ABCC4 10257 genome.wustl.edu 37 13 95696671 95696671 + Nonsense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 95696671 95696671 C A SNP ABCC4 ENST00000376887 human ensembl 70_37 -1 known nonsense c.3478 p.E1160* 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ABCD3 5825 genome.wustl.edu 37 1 94946072 94946072 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 94946072 94946072 G A SNP ABCD3 ENST00000454898 human ensembl 70_37 +1 known missense c.809 p.R270Q 1.000 pfam_ABC_Ald_N,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_FA_transporter pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter - no_errors ABCD3 HGNC ABCF3 55324 genome.wustl.edu 37 3 183905482 183905482 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 183905482 183905482 G A SNP ABCF3 ENST00000429586 human ensembl 70_37 +1 known missense c.379 p.E127K 0.999 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF3 HGNC ABI3BP 25890 genome.wustl.edu 37 3 100581727 100581727 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 100581727 100581727 C T SNP ABI3BP ENST00000495063 human ensembl 70_37 -1 putative missense c.1186 p.E396K 1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ABI3BP HGNC ABTB2 25841 genome.wustl.edu 37 11 34378318 34378318 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 34378318 34378318 G C SNP ABTB2 ENST00000435224 human ensembl 70_37 -1 known missense c.813 p.I271M 1.000 superfamily_Histone-fold pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB2 HGNC ACACB 32 genome.wustl.edu 37 12 109634908 109634908 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 109634908 109634908 C T SNP ACACB ENST00000338432 human ensembl 70_37 +1 known silent c.2577 p.L859 1.000 NULL pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ACAD9 28976 genome.wustl.edu 37 3 128615308 128615308 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 128615308 128615308 G A SNP ACAD9 ENST00000308982 human ensembl 70_37 +1 known silent c.483 p.Q161 1.000 pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors ACAD9 HGNC ACBD4 79777 genome.wustl.edu 37 17 43213571 43213571 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 43213571 43213571 G A SNP ACBD4 ENST00000431281 human ensembl 70_37 +1 known silent c.60 p.V20 0.803 pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors ACBD4 HGNC ACE 1636 genome.wustl.edu 37 17 61557756 61557756 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 61557756 61557756 C T SNP ACE ENST00000290866 human ensembl 70_37 +1 known silent c.714 p.D238 0.987 pfam_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE HGNC ACIN1 22985 genome.wustl.edu 37 14 23551033 23551033 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 23551033 23551033 G A SNP ACIN1 ENST00000262710 human ensembl 70_37 -1 known missense c.623 p.S208L 0.785 NULL pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors ACIN1 HGNC ACOX2 8309 genome.wustl.edu 37 3 58490952 58490952 + Nonstop_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 58490952 58490952 C G SNP ACOX2 ENST00000302819 human ensembl 70_37 -1 known nonstop c.2045 p.*682S 0.999 NULL pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase - no_errors ACOX2 HGNC ACSL4 2182 genome.wustl.edu 37 X 108887380 108887380 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 108887380 108887380 G C SNP ACSL4 ENST00000340800 human ensembl 70_37 -1 known missense c.2014 p.R672G 0.994 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSL4 HGNC ACSM4 341392 genome.wustl.edu 37 12 7475902 7475902 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 7475902 7475902 G C SNP ACSM4 ENST00000399422 human ensembl 70_37 +1 novel missense c.1198 p.D400H 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM4 HGNC ACSS1 84532 genome.wustl.edu 37 20 25038603 25038603 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 25038603 25038603 G A SNP ACSS1 ENST00000323482 human ensembl 70_37 -1 known missense c.136 p.P46S 0.744 NULL pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Ac_CoA_lig - no_errors ACSS1 HGNC ACTB 60 genome.wustl.edu 37 7 5566884 5566884 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 5566884 5566884 C T SNP ACTB ENST00000464611 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors ACTB HGNC ACTB 60 genome.wustl.edu 37 7 5567464 5567464 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 5567464 5567464 G C SNP ACTB ENST00000331789 human ensembl 70_37 -1 known missense c.1043 p.S348W 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTB HGNC ACTBL2 345651 genome.wustl.edu 37 5 56778051 56778051 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 56778051 56778051 G C SNP ACTBL2 ENST00000423391 human ensembl 70_37 -1 known missense c.484 p.H162D 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTBL2 HGNC ACTR8 93973 genome.wustl.edu 37 3 53911703 53911703 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 53911703 53911703 G A SNP ACTR8 ENST00000335754 human ensembl 70_37 -1 known missense c.481 p.H161Y 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like - no_errors ACTR8 HGNC ADAM15 8751 genome.wustl.edu 37 1 155030783 155030783 + Missense_Mutation SNP A A T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 155030783 155030783 A T SNP ADAM15 ENST00000356955 human ensembl 70_37 +1 known missense c.1783 p.I595F 0.004 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM15 HGNC ADAM15 8751 genome.wustl.edu 37 1 155030785 155030785 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 155030785 155030785 C T SNP ADAM15 ENST00000356955 human ensembl 70_37 +1 known silent c.1785 p.I595 0.001 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM15 HGNC ADAMTS5 11096 genome.wustl.edu 37 21 28315804 28315804 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 28315804 28315804 C T SNP ADAMTS5 ENST00000284987 human ensembl 70_37 -1 known missense c.1300 p.E434K 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ADCY10 55811 genome.wustl.edu 37 1 167823649 167823649 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 167823649 167823649 G C SNP ADCY10 ENST00000367851 human ensembl 70_37 -1 known silent c.2250 p.L750 0.000 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ADCY4 196883 genome.wustl.edu 37 14 24798280 24798280 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 24798280 24798280 G C SNP ADCY4 ENST00000310677 human ensembl 70_37 -1 known missense c.1511 p.S504C 1.000 pfam_Adenylate_cyclase-like pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY4 HGNC ADCY9 115 genome.wustl.edu 37 16 4039091 4039091 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 4039091 4039091 C G SNP ADCY9 ENST00000294016 human ensembl 70_37 -1 known missense c.2214 p.M738I 1.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ADRA1A 148 genome.wustl.edu 37 8 26722241 26722241 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 26722241 26722241 G A SNP ADRA1A ENST00000380586 human ensembl 70_37 -1 known silent c.246 p.F82 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrene_rcpt_A1Cs,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRA1A HGNC ADRB1 153 genome.wustl.edu 37 10 115804371 115804371 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 115804371 115804371 C T SNP ADRB1 ENST00000369295 human ensembl 70_37 +1 known silent c.480 p.I160 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT6_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Adrgc_rcpt_B1,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt,prints_5HT6_rcpt - no_errors ADRB1 HGNC ADRBK1 156 genome.wustl.edu 37 11 67050286 67050286 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 67050286 67050286 G A SNP ADRBK1 ENST00000308595 human ensembl 70_37 +1 known silent c.1224 p.T408 0.891 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors ADRBK1 HGNC ADRM1 11047 genome.wustl.edu 37 20 60882684 60882684 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 60882684 60882684 C T SNP ADRM1 ENST00000253003 human ensembl 70_37 +1 known missense c.656 p.S219L 1.000 pfam_26S_Psome_Ubiquitin-recp_Rpn13 pfam_26S_Psome_Ubiquitin-recp_Rpn13 - no_errors ADRM1 HGNC ADSS 159 genome.wustl.edu 37 1 244586142 244586143 + Frame_Shift_Ins INS - - TT TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 244586142 244586143 - TT INS ADSS ENST00000366535 human ensembl 70_37 -1 known frame_shift_ins c.658_657 p.L219fs 1.000:0.999 pfam_Adenylosuccinate_synthetase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase pfam_Adenylosuccinate_synthetase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase - no_errors ADSS HGNC AFF1 4299 genome.wustl.edu 37 4 88048811 88048811 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 88048811 88048811 C T SNP AFF1 ENST00000395146 human ensembl 70_37 +1 known missense c.2920 p.H974Y 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC AGAP5 729092 genome.wustl.edu 37 10 75434741 75434741 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 75434741 75434741 C G SNP AGAP5 ENST00000374094 human ensembl 70_37 -1 known silent c.1677 p.T559 0.989 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP5 HGNC AGAP5 729092 genome.wustl.edu 37 10 75434831 75434831 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 75434831 75434831 C T SNP AGAP5 ENST00000374094 human ensembl 70_37 -1 known silent c.1587 p.R529 0.921 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP5 HGNC AGMAT 79814 genome.wustl.edu 37 1 15905370 15905370 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 15905370 15905370 C T SNP AGMAT ENST00000375826 human ensembl 70_37 -1 known missense c.704 p.R235K 0.961 pfam_Ureohydrolase,tigrfam_Agmatinase-rel pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Agmatinase-rel - no_errors AGMAT HGNC AGPAT9 84803 genome.wustl.edu 37 4 84465744 84465744 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 84465744 84465744 C G SNP AGPAT9 ENST00000264409 human ensembl 70_37 +1 known missense c.197 p.S66C 0.813 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT9 HGNC AHNAK 79026 genome.wustl.edu 37 11 62286537 62286537 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 62286537 62286537 G A SNP AHNAK ENST00000378024 human ensembl 70_37 -1 known nonsense c.15352 p.Q5118* 0.947 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC AIFM1 9131 genome.wustl.edu 37 X 129281546 129281546 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 129281546 129281546 G A SNP AIFM1 ENST00000287295 human ensembl 70_37 -1 known missense c.527 p.S176L 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase - no_errors AIFM1 HGNC AKAP11 11215 genome.wustl.edu 37 13 42876786 42876786 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 42876786 42876786 G A SNP AKAP11 ENST00000025301 human ensembl 70_37 +1 known missense c.3904 p.E1302K 0.995 NULL NULL - no_errors AKAP11 HGNC AKAP13 11214 genome.wustl.edu 37 15 86261378 86261378 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 86261378 86261378 G A SNP AKAP13 ENST00000361243 human ensembl 70_37 +1 known missense c.6001 p.E2001K 1.000 superfamily_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC AKAP8L 26993 genome.wustl.edu 37 19 15511673 15511673 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 15511673 15511673 C T SNP AKAP8L ENST00000397410 human ensembl 70_37 -1 known missense c.916 p.E306K 1.000 NULL pfam_AKAP95 - no_errors AKAP8L HGNC AK9 221264 genome.wustl.edu 37 6 109931583 109931583 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 109931583 109931583 C T SNP AKD1 ENST00000424296 human ensembl 70_37 -1 known silent c.1827 p.Q609 0.372 NULL pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase - no_errors AKD1 HGNC AKIP1 56672 genome.wustl.edu 37 11 8934037 8934037 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 8934037 8934037 G C SNP AKIP1 ENST00000309377 human ensembl 70_37 +1 known missense c.260 p.R87T 0.997 NULL NULL - no_errors AKIP1 HGNC AKT3 10000 genome.wustl.edu 37 1 243858901 243858901 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 243858901 243858901 G A SNP AKT3 ENST00000263826 human ensembl 70_37 -1 known missense c.164 p.S55L 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom - no_errors AKT3 HGNC ALDH18A1 5832 genome.wustl.edu 37 10 97373741 97373741 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 97373741 97373741 C G SNP ALDH18A1 ENST00000371224 human ensembl 70_37 -1 known missense c.1783 p.D595H 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_P5_carboxy_syn,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase - no_errors ALDH18A1 HGNC ALDH1L2 160428 genome.wustl.edu 37 12 105433558 105433558 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 105433558 105433558 C G SNP ALDH1L2 ENST00000258494 human ensembl 70_37 -1 known missense c.1978 p.E660Q 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L2 HGNC ALDH9A1 223 genome.wustl.edu 37 1 165667639 165667639 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 165667639 165667639 C G SNP ALDH9A1 ENST00000354775 human ensembl 70_37 -1 known missense c.157 p.E53Q 0.994 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH9A1 HGNC ALG1L13P 0 genome.wustl.edu 37 8 8097804 8097804 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 8097804 8097804 G C SNP ALG1L13P ENST00000522393 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors ALG1L13P HGNC ALKBH8 91801 genome.wustl.edu 37 11 107375622 107375622 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 107375622 107375622 G C SNP ALKBH8 ENST00000417449 human ensembl 70_37 -1 known missense c.1766 p.S589C 0.997 NULL pfam_Methyltransf_11,pfam_AlkB_hom8_N,pfam_Oxoglu/Fe-dep_dioxygenase,pfam_Methyltransferase-rel - no_errors ALKBH8 HGNC ALMS1 7840 genome.wustl.edu 37 2 73828372 73828372 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 73828372 73828372 G A SNP ALMS1 ENST00000264448 human ensembl 70_37 +1 known missense c.11920 p.E3974K 1.000 NULL NULL - no_errors ALMS1 HGNC ALOX5 240 genome.wustl.edu 37 10 45938983 45938983 + Nonsense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 45938983 45938983 C G SNP ALOX5 ENST00000374391 human ensembl 70_37 +1 known nonsense c.1571 p.S524* 1.000 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX5 HGNC ALPK2 115701 genome.wustl.edu 37 18 56278936 56278936 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 56278936 56278936 G A SNP ALPK2 ENST00000361673 human ensembl 70_37 -1 known missense c.94 p.R32C 0.998 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK2 HGNC AMACR 23600 genome.wustl.edu 37 5 34004690 34004690 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 34004690 34004690 C T SNP AMACR ENST00000335606 human ensembl 70_37 -1 known missense c.541 p.D181N 1.000 pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom - no_errors AMACR HGNC AMACR 23600 genome.wustl.edu 37 5 34004818 34004818 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 34004818 34004818 C T SNP AMACR ENST00000335606 human ensembl 70_37 -1 known missense c.413 p.R138K 0.978 pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom - no_errors AMACR HGNC AMELX 265 genome.wustl.edu 37 X 11316904 11316904 + Nonsense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 11316904 11316904 C G SNP AMELX ENST00000380712 human ensembl 70_37 +1 known nonsense c.423 p.Y141* 0.994 pfam_Amelogenin,smart_Amelogenin pfam_Amelogenin,smart_Amelogenin,prints_Amelogenin - no_errors AMELX HGNC AMN1 196394 genome.wustl.edu 37 12 31842023 31842023 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 31842023 31842023 C G SNP AMN1 ENST00000281471 human ensembl 70_37 -1 known silent c.621 p.L207 1.000 smart_Leu-rich_rpt_Cys-con_subtyp smart_Leu-rich_rpt_Cys-con_subtyp - no_errors AMN1 HGNC AMOT 154796 genome.wustl.edu 37 X 112054493 112054493 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 112054493 112054493 G C SNP AMOT ENST00000371959 human ensembl 70_37 -1 known missense c.1521 p.F507L 1.000 superfamily_Prefoldin,prints_Angiomotin pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC AMZ2P1 201283 genome.wustl.edu 37 17 62969059 62969059 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 62969059 62969059 G C SNP AMZ2P1 ENST00000397713 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AMZ2P1 HGNC ANAPC5 51433 genome.wustl.edu 37 12 121757584 121757584 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 121757584 121757584 C G SNP ANAPC5 ENST00000261819 human ensembl 70_37 -1 known missense c.1553 p.R518T 1.000 NULL smart_TPR_repeat - no_errors ANAPC5 HGNC ANHX 647589 genome.wustl.edu 37 12 133810919 133810919 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 133810919 133810919 C G SNP ANHX ENST00000419717 human ensembl 70_37 -1 known silent c.24 p.L8 0.331 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors ANHX HGNC ANKRD11 29123 genome.wustl.edu 37 16 89351174 89351174 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 89351174 89351174 C T SNP ANKRD11 ENST00000301030 human ensembl 70_37 -1 known silent c.1776 p.V592 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ANKRD20A4 728747 genome.wustl.edu 37 9 69423478 69423478 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 69423478 69423478 C A SNP ANKRD20A4 ENST00000357336 human ensembl 70_37 +1 known missense c.1774 p.L592M 0.656 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A4 HGNC ANKRD26 22852 genome.wustl.edu 37 10 27322178 27322178 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 27322178 27322178 C T SNP ANKRD26 ENST00000436985 human ensembl 70_37 -1 known silent c.3831 p.K1277 0.889 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ANKRD26P1 124149 genome.wustl.edu 37 16 46534343 46534343 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 46534343 46534343 C G SNP ANKRD26P1 ENST00000566201 human ensembl 70_37 -1 known rna NULL NULL 0.008 - - - no_errors ANKRD26P1 HGNC ANKRD27 84079 genome.wustl.edu 37 19 33149898 33149898 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 33149898 33149898 G A SNP ANKRD27 ENST00000306065 human ensembl 70_37 -1 known silent c.24 p.L8 1.000 NULL pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt - no_errors ANKRD27 HGNC ANKRD30B 374860 genome.wustl.edu 37 18 14778038 14778038 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 14778038 14778038 C G SNP ANKRD30B ENST00000358984 human ensembl 70_37 +1 known missense c.1384 p.Q462E 0.019 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ANKRD6 22881 genome.wustl.edu 37 6 90276740 90276740 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 90276740 90276740 C G SNP ANKRD6 ENST00000339746 human ensembl 70_37 +1 known silent c.45 p.L15 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD6 HGNC ANO5 203859 genome.wustl.edu 37 11 22296234 22296234 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 22296234 22296234 G A SNP ANO5 ENST00000324559 human ensembl 70_37 +1 known silent c.2355 p.L785 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO5 HGNC ANO8 57719 genome.wustl.edu 37 19 17441716 17441716 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 17441716 17441716 C G SNP ANO8 ENST00000159087 human ensembl 70_37 -1 known missense c.914 p.R305T 0.996 pfam_Anoctamin pfam_Anoctamin - no_errors ANO8 HGNC ANO8 57719 genome.wustl.edu 37 19 17444512 17444512 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 17444512 17444512 C T SNP ANO8 ENST00000159087 human ensembl 70_37 -1 known silent c.204 p.L68 0.982 NULL pfam_Anoctamin - no_errors ANO8 HGNC ANXA1 301 genome.wustl.edu 37 9 75783758 75783758 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 75783758 75783758 G A SNP ANXA1 ENST00000491192 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ANXA1 HGNC ANXA11 311 genome.wustl.edu 37 10 81923365 81923365 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 81923365 81923365 G C SNP ANXA11 ENST00000265447 human ensembl 70_37 -1 known missense c.954 p.F318L 1.000 pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXI,prints_AnnexinVII - no_errors ANXA11 HGNC AOC2 314 genome.wustl.edu 37 17 41001113 41001113 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 41001113 41001113 C G SNP AOC2 ENST00000253799 human ensembl 70_37 +1 known missense c.1599 p.N533K 1.000 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC2 HGNC AOC4 90586 genome.wustl.edu 37 17 41019397 41019397 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 41019397 41019397 G A SNP AOC4 ENST00000585538 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AOC4 Clone_based_vega_gene AOX2P 344454 genome.wustl.edu 37 2 201607083 201607083 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 201607083 201607083 G C SNP AOX2P ENST00000472376 human ensembl 70_37 +1 known rna NULL NULL 0.483 - - - no_errors AOX2P HGNC AP1B1 162 genome.wustl.edu 37 22 29724828 29724828 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 29724828 29724828 C T SNP AP1B1 ENST00000357586 human ensembl 70_37 -1 known silent c.2832 p.E944 1.000 pfam_B-adaptin_app_sub_C,superfamily_Coatomer/calthrin_app_sub_C 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_1_2_4 - no_errors AP1B1 HGNC AP1G1 164 genome.wustl.edu 37 16 71841730 71841730 + RNA SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 71841730 71841730 C A SNP AP1G1 ENST00000570297 human ensembl 70_37 -1 known rna NULL NULL 0.673 - - - no_errors AP1G1 HGNC AP2A1 160 genome.wustl.edu 37 19 50302075 50302075 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 50302075 50302075 G C SNP AP2A1 ENST00000354293 human ensembl 70_37 +1 known missense c.831 p.K277N 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,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 AP3D1 8943 genome.wustl.edu 37 19 2114814 2114814 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 2114814 2114814 G C SNP AP3D1 ENST00000355272 human ensembl 70_37 -1 known missense c.2356 p.L786V 0.784 pfam_BLV_receptor,pirsf_AP3_complex_dsu pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu - no_errors AP3D1 HGNC AP3D1 8943 genome.wustl.edu 37 19 2121284 2121284 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 2121284 2121284 G A SNP AP3D1 ENST00000355272 human ensembl 70_37 -1 known silent c.1128 p.I376 0.375 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu - no_errors AP3D1 HGNC AP4B1 10717 genome.wustl.edu 37 1 114445444 114445444 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 114445444 114445444 C G SNP AP4B1 ENST00000256658 human ensembl 70_37 -1 known missense c.154 p.E52Q 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4 - no_errors AP4B1 HGNC AP4B1-AS1 100287722 genome.wustl.edu 37 1 114440589 114440589 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 114440589 114440589 G A SNP AP4B1-AS1 ENST00000419536 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AP4B1-AS1 HGNC AP5B1 91056 genome.wustl.edu 37 11 65546419 65546419 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 65546419 65546419 C G SNP AP5B1 ENST00000532090 human ensembl 70_37 -1 novel silent c.1545 p.L515 0.788 NULL NULL - no_errors AP5B1 HGNC AP5Z1 9907 genome.wustl.edu 37 7 4820830 4820830 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 4820830 4820830 G A SNP AP5Z1 ENST00000348624 human ensembl 70_37 +1 known silent c.66 p.K22 0.000 NULL NULL - no_errors AP5Z1 HGNC APC 324 genome.wustl.edu 37 5 112136975 112136975 + Splice_Site SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 112136975 112136975 G A SNP APC ENST00000257430 human ensembl 70_37 +1 known splice_site c.730-1 e7-1 1.000 - - - no_errors APC HGNC APLNR 187 genome.wustl.edu 37 11 57004286 57004286 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 57004286 57004286 C T SNP APLNR ENST00000257254 human ensembl 70_37 -1 known missense c.193 p.D65N 0.995 pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_ATII_rcpt - no_errors APLNR HGNC APOB 338 genome.wustl.edu 37 2 21230105 21230105 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 21230105 21230105 C G SNP APOB ENST00000233242 human ensembl 70_37 -1 known missense c.9635 p.R3212T 1.000 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 APOBEC3G 60489 genome.wustl.edu 37 22 39479792 39479792 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 39479792 39479792 G C SNP APOBEC3G ENST00000407997 human ensembl 70_37 +1 known missense c.638 p.R213T 0.000 pfam_APOBEC_N pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3G HGNC APOD 347 genome.wustl.edu 37 3 195295997 195295997 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 195295997 195295997 G A SNP APOD ENST00000343267 human ensembl 70_37 -1 known missense c.344 p.S115L 0.002 pfam_Lipocln_cytosolic_FA-bd_dom,pfam_Triabin_pallidipin/procalin,superfamily_Calycin-like,pirsf_Lipocalin_ApoD pfam_Lipocln_cytosolic_FA-bd_dom,pfam_Triabin_pallidipin/procalin,superfamily_Calycin-like,pirsf_Lipocalin_ApoD,prints_ApolipopD,prints_Invtbrt_color,prints_Lipocalin,prints_Lipocalin_bac - no_errors APOD HGNC AQR 9716 genome.wustl.edu 37 15 35149043 35149043 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 35149043 35149043 C T SNP AQR ENST00000156471 human ensembl 70_37 -1 known missense c.4408 p.E1470K 0.002 NULL NULL - no_errors AQR HGNC AR 367 genome.wustl.edu 37 X 66905906 66905906 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 66905906 66905906 G A SNP AR ENST00000374690 human ensembl 70_37 +1 known missense c.1823 p.R608Q 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ARCN1 372 genome.wustl.edu 37 11 118472585 118472585 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 118472585 118472585 C T SNP ARCN1 ENST00000533452 human ensembl 70_37 +1 known rna NULL NULL 0.988 - - - no_errors ARCN1 HGNC ARGLU1 55082 genome.wustl.edu 37 13 107219979 107219979 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 107219979 107219979 C T SNP ARGLU1 ENST00000400198 human ensembl 70_37 -1 known missense c.289 p.E97K 1.000 NULL NULL - no_errors ARGLU1 HGNC ARHGAP10 79658 genome.wustl.edu 37 4 148653506 148653506 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 148653506 148653506 C G SNP ARHGAP10 ENST00000336498 human ensembl 70_37 +1 known missense c.54 p.F18L 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,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 ARHGAP10 HGNC ARHGAP17 55114 genome.wustl.edu 37 16 24942524 24942524 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 24942524 24942524 C T SNP ARHGAP17 ENST00000289968 human ensembl 70_37 -1 known missense c.2096 p.R699Q 1.000 NULL pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP17 HGNC ARHGAP36 158763 genome.wustl.edu 37 X 130220320 130220320 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 130220320 130220320 G A SNP ARHGAP36 ENST00000276211 human ensembl 70_37 +1 known silent c.1299 p.Q433 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP36 HGNC ARHGAP5 394 genome.wustl.edu 37 14 32560284 32560284 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 32560284 32560284 C T SNP ARHGAP5 ENST00000345122 human ensembl 70_37 +1 known nonsense c.409 p.Q137* 1.000 NULL pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ARHGAP8 23779 genome.wustl.edu 37 22 45128203 45128203 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 45128203 45128203 G C SNP ARHGAP8 ENST00000517296 human ensembl 70_37 +1 known missense c.487 p.E163Q 1.000 pfam_HbrB pfam_RhoGAP_dom,pfam_HbrB,pfam_CRAL-TRIO_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CRAL-TRIO_dom,smart_RhoGAP_dom,pfscan_CRAL-TRIO_dom,pfscan_RhoGAP_dom - no_errors ARHGAP8 HGNC ARHGEF19 128272 genome.wustl.edu 37 1 16528973 16528973 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16528973 16528973 G A SNP ARHGEF19 ENST00000270747 human ensembl 70_37 -1 known silent c.2004 p.F668 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF19 HGNC ARHGEF19 128272 genome.wustl.edu 37 1 16528979 16528979 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16528979 16528979 G C SNP ARHGEF19 ENST00000270747 human ensembl 70_37 -1 known missense c.1998 p.H666Q 0.997 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF19 HGNC ARHGEF2 9181 genome.wustl.edu 37 1 155917797 155917797 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 155917797 155917797 C G SNP ARHGEF2 ENST00000368315 human ensembl 70_37 -1 known missense c.2900 p.R967T 0.996 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF2 HGNC ARHGEF28 64283 genome.wustl.edu 37 5 73142140 73142140 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 73142140 73142140 C G SNP ARHGEF28 ENST00000545377 human ensembl 70_37 +1 known missense c.1475 p.S492C 0.197 NULL pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF28 HGNC ARHGEF4 50649 genome.wustl.edu 37 2 131672828 131672828 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 131672828 131672828 C G SNP ARHGEF4 ENST00000409359 human ensembl 70_37 +1 putative missense c.319 p.L107V 0.001 NULL NULL - no_errors ARHGEF4 HGNC ARID1A 8289 genome.wustl.edu 37 1 27099314 27099314 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 27099314 27099314 C T SNP ARID1A ENST00000324856 human ensembl 70_37 +1 known missense c.3551 p.S1184L 0.998 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ARID3A 1820 genome.wustl.edu 37 19 966846 966846 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 966846 966846 G C SNP ARID3A ENST00000263620 human ensembl 70_37 +1 known missense c.1473 p.M491I 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3A HGNC ARID4A 5926 genome.wustl.edu 37 14 58768399 58768399 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 58768399 58768399 G A SNP ARID4A ENST00000355431 human ensembl 70_37 +1 known silent c.108 p.V36 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ARID4A 5926 genome.wustl.edu 37 14 58831712 58831712 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 58831712 58831712 G A SNP ARID4A ENST00000355431 human ensembl 70_37 +1 known missense c.2905 p.E969K 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ARIH2 10425 genome.wustl.edu 37 3 49017054 49017054 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 49017054 49017054 C T SNP ARIH2 ENST00000356401 human ensembl 70_37 +1 known silent c.1101 p.F367 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors ARIH2 HGNC ARL4D 379 genome.wustl.edu 37 17 41477529 41477529 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 41477529 41477529 G A SNP ARL4D ENST00000320033 human ensembl 70_37 +1 known silent c.429 p.L143 0.947 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_EF_GTP-bd_dom,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_SRP_receptor_beta_su,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL4D HGNC ARMC8 25852 genome.wustl.edu 37 3 137906440 137906440 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 137906440 137906440 C T SNP ARMC8 ENST00000469044 human ensembl 70_37 +1 known missense c.44 p.S15L 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC8 HGNC ARPC1B 10095 genome.wustl.edu 37 7 98984028 98984028 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 98984028 98984028 G A SNP ARPC1B ENST00000493403 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ARPC1B HGNC ARPC2 10109 genome.wustl.edu 37 2 219093488 219093488 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 219093488 219093488 C T SNP ARPC2 ENST00000295685 human ensembl 70_37 +1 known missense c.137 p.S46L 1.000 NULL pfam_P34-arc - no_errors ARPC2 HGNC ARVCF 421 genome.wustl.edu 37 22 19967387 19967387 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 19967387 19967387 G A SNP ARVCF ENST00000263207 human ensembl 70_37 -1 known silent c.1275 p.R425 0.977 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARVCF HGNC ASCC3 10973 genome.wustl.edu 37 6 101315861 101315861 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 101315861 101315861 G C SNP ASCC3 ENST00000369162 human ensembl 70_37 -1 known missense c.13 p.R5G 1.000 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ASGR2 433 genome.wustl.edu 37 17 7017496 7017496 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 7017496 7017496 G A SNP ASGR2 ENST00000355035 human ensembl 70_37 -1 known nonsense c.64 p.Q22* 0.000 NULL pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors ASGR2 HGNC ASIC3 9311 genome.wustl.edu 37 7 150747872 150747872 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 150747872 150747872 G A SNP ASIC3 ENST00000297512 human ensembl 70_37 +1 known missense c.841 p.D281N 0.263 pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC3 HGNC ASMT 438 genome.wustl.edu 37 X 1734097 1734097 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 1734097 1734097 G A SNP ASMT ENST00000381241 human ensembl 70_37 +1 known missense c.5 p.G2E 0.001 pirsf_O-MeTrfase_CAOMT-type pfam_O_MeTrfase_2,pirsf_O-MeTrfase_CAOMT-type - no_errors ASMT HGNC ASMTL-AS1 80161 genome.wustl.edu 37 X 1520978 1520978 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 1520978 1520978 G A SNP ASMTL-AS1 ENST00000419737 human ensembl 70_37 +1 known rna NULL NULL 0.351 - - - no_errors ASMTL-AS1 HGNC ASPH 444 genome.wustl.edu 37 8 62416044 62416044 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 62416044 62416044 G C SNP ASPH ENST00000379454 human ensembl 70_37 -1 known silent c.2151 p.L717 0.999 pfam_Asp_Arg_b-Hydrxlase pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ASPH HGNC ASPM 259266 genome.wustl.edu 37 1 197070687 197070687 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 197070687 197070687 C T SNP ASPM ENST00000367409 human ensembl 70_37 -1 known missense c.7694 p.R2565K 0.999 superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ASPSCR1 79058 genome.wustl.edu 37 17 79973017 79973017 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 79973017 79973017 G C SNP ASPSCR1 ENST00000306729 human ensembl 70_37 +1 known missense c.1420 p.E474Q 0.035 NULL pfam_TUG,pfam_UBX,pfscan_UBX - no_errors ASPSCR1 HGNC ASTN1 460 genome.wustl.edu 37 1 176838140 176838140 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 176838140 176838140 G C SNP ASTN1 ENST00000367654 human ensembl 70_37 -1 known missense c.3511 p.L1171V 1.000 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ATAD2 29028 genome.wustl.edu 37 8 124381325 124381325 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 124381325 124381325 C T SNP ATAD2 ENST00000287394 human ensembl 70_37 -1 known missense c.1022 p.R341K 1.000 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ATAD3B 83858 genome.wustl.edu 37 1 1418031 1418031 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 1418031 1418031 G A SNP ATAD3B ENST00000378741 human ensembl 70_37 +1 known missense c.283 p.E95K 0.001 pfam_DUF3523 pfam_DUF3523 - no_errors ATAD3B HGNC ATAT1 79969 genome.wustl.edu 37 6 30594728 30594728 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 30594728 30594728 G C SNP ATAT1 ENST00000376485 human ensembl 70_37 +1 known silent c.66 p.L22 1.000 NULL pfam_Touch_recpt_neuron_Mec-17,superfamily_Acyl_CoA_acyltransferase - no_errors ATAT1 HGNC ATF4 468 genome.wustl.edu 37 22 39917510 39917510 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 39917510 39917510 C T SNP ATF4 ENST00000337304 human ensembl 70_37 +1 known silent c.60 p.F20 1.000 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF4 HGNC ATG3 64422 genome.wustl.edu 37 3 112260706 112260706 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 112260706 112260706 G A SNP ATG3 ENST00000283290 human ensembl 70_37 -1 known missense c.419 p.S140L 0.998 pfam_Autophagy-rel_prot_3_N pfam_Autophagy-rel_prot_3_N,pfam_Autophagy-rel_prot_3,pfam_Autophagy-rel_prot_3_C - no_errors ATG3 HGNC ATG5 9474 genome.wustl.edu 37 6 106727617 106727617 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 106727617 106727617 C T SNP ATG5 ENST00000343245 human ensembl 70_37 -1 known missense c.397 p.D133N 1.000 pfam_Autophagy-rel_prot_5 pfam_Autophagy-rel_prot_5 - no_errors ATG5 HGNC ATG9B 285973 genome.wustl.edu 37 7 150709588 150709588 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 150709588 150709588 G C SNP ATG9B ENST00000377974 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors ATG9B HGNC ATM 472 genome.wustl.edu 37 11 108122745 108122745 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 108122745 108122745 C G SNP ATM ENST00000278616 human ensembl 70_37 +1 known missense c.1789 p.P597A 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ATN1 1822 genome.wustl.edu 37 12 7045670 7045670 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 7045670 7045670 C T SNP ATN1 ENST00000356654 human ensembl 70_37 +1 known missense c.1240 p.P414S 0.929 pfam_Atrophin-like pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ATP13A2 23400 genome.wustl.edu 37 1 17313385 17313385 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 17313385 17313385 G C SNP ATP13A2 ENST00000326735 human ensembl 70_37 -1 known silent c.3150 p.V1050 0.998 tigrfam_ATPase_P-typ_unknown-pump-sp 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_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A2 HGNC ATP2A1 487 genome.wustl.edu 37 16 28893804 28893804 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 28893804 28893804 G A SNP ATP2A1 ENST00000357084 human ensembl 70_37 +1 known silent c.357 p.L119 0.989 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2A1 HGNC ATP2A1 487 genome.wustl.edu 37 16 28911970 28911970 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 28911970 28911970 C G SNP ATP2A1 ENST00000357084 human ensembl 70_37 +1 known missense c.1833 p.I611M 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2A1 HGNC ATP5F1 515 genome.wustl.edu 37 1 111992026 111992026 + RNA SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 111992026 111992026 C A SNP ATP5F1 ENST00000493119 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ATP5F1 HGNC ATP6V0B 533 genome.wustl.edu 37 1 44442474 44442474 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 44442474 44442474 C T SNP ATP6V0B ENST00000472174 human ensembl 70_37 +1 known silent c.378 p.I126 0.999 NULL pfam_ATPase_F0/V0-cplx_csu,superfamily_ATPase_F0/V0-cplx_csu,prints_ATPase_V0-cplx_csu - no_errors ATP6V0B HGNC ATP7B 540 genome.wustl.edu 37 13 52548749 52548749 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 52548749 52548749 C A SNP ATP7B ENST00000242839 human ensembl 70_37 -1 known missense c.607 p.D203Y 0.988 pfam_HeavyMe-assoc_HMA,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,tigrfam_HMA_Cu_ion-bd pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ATPAF2 91647 genome.wustl.edu 37 17 17942394 17942394 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 17942394 17942394 C T SNP ATPAF2 ENST00000577586 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors ATPAF2 HGNC ATRIP 84126 genome.wustl.edu 37 3 48488421 48488421 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 48488421 48488421 G A SNP ATRIP ENST00000320211 human ensembl 70_37 +1 known missense c.172 p.D58N 0.995 NULL NULL - no_errors ATRIP HGNC AZIN1 51582 genome.wustl.edu 37 8 103846971 103846971 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 103846971 103846971 G A SNP AZIN1 ENST00000337198 human ensembl 70_37 -1 known missense c.589 p.H197Y 1.000 pfam_De-COase2_N,prints_Orn/DAP/Arg_de-COase pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase - no_errors AZIN1 HGNC B3GALNT2 148789 genome.wustl.edu 37 1 235658103 235658103 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 235658103 235658103 G C SNP B3GALNT2 ENST00000366600 human ensembl 70_37 -1 known missense c.148 p.H50D 0.983 NULL pfam_Glyco_trans_31 - no_errors B3GALNT2 HGNC B9D1 27077 genome.wustl.edu 37 17 19246682 19246682 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 19246682 19246682 C G SNP B9D1 ENST00000261499 human ensembl 70_37 -1 known missense c.565 p.D189H 0.303 NULL pfam_B9_dom - no_errors B9D1 HGNC BAG5 9529 genome.wustl.edu 37 14 104026644 104026644 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 104026644 104026644 C G SNP BAG5 ENST00000337322 human ensembl 70_37 -1 known missense c.981 p.M327I 1.000 pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain - no_errors BAG5 HGNC BAG5 9529 genome.wustl.edu 37 14 104028264 104028264 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 104028264 104028264 C G SNP BAG5 ENST00000337322 human ensembl 70_37 -1 known missense c.81 p.W27C 0.000 NULL pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain - no_errors BAG5 HGNC BAZ2B 29994 genome.wustl.edu 37 2 160287376 160287376 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 160287376 160287376 G C SNP BAZ2B ENST00000392783 human ensembl 70_37 -1 known missense c.2192 p.S731C 1.000 superfamily_DNA-bd_integrase-typ pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC BCAT1 586 genome.wustl.edu 37 12 24995103 24995103 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 24995103 24995103 G A SNP BCAT1 ENST00000261192 human ensembl 70_37 -1 known nonsense c.730 p.Q244* 1.000 pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII - no_errors BCAT1 HGNC BCL11A 53335 genome.wustl.edu 37 2 60695969 60695969 + Splice_Site SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 60695969 60695969 C G SNP BCL11A ENST00000335712 human ensembl 70_37 -1 known splice_site c.386-1 e3-1 1.000 - - - no_errors BCL11A HGNC BCLAF1 9774 genome.wustl.edu 37 6 136597209 136597209 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 136597209 136597209 G C SNP BCLAF1 ENST00000531224 human ensembl 70_37 -1 known missense c.1454 p.S485C 1.000 NULL NULL - no_errors BCLAF1 HGNC BCLAF1 9774 genome.wustl.edu 37 6 136599535 136599535 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 136599535 136599535 G C SNP BCLAF1 ENST00000531224 human ensembl 70_37 -1 known missense c.484 p.Q162E 1.000 NULL NULL - no_errors BCLAF1 HGNC BCR 613 genome.wustl.edu 37 22 23524281 23524281 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 23524281 23524281 C T SNP BCR ENST00000305877 human ensembl 70_37 +1 known silent c.1134 p.F378 0.111 NULL pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors BCR HGNC BEST1 7439 genome.wustl.edu 37 11 61722613 61722613 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 61722613 61722613 G C SNP BEST1 ENST00000449131 human ensembl 70_37 +1 known missense c.7 p.E3Q 1.000 NULL pfam_Bestrophin/UPF0187 - no_errors BEST1 HGNC BLID 414899 genome.wustl.edu 37 11 121986323 121986323 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 121986323 121986323 G A SNP BLID ENST00000560104 human ensembl 70_37 -1 known missense c.308 p.S103F 0.594 NULL NULL - no_errors BLID HGNC BMP1 649 genome.wustl.edu 37 8 22064467 22064467 + Silent SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 22064467 22064467 C A SNP BMP1 ENST00000306385 human ensembl 70_37 +1 known silent c.2334 p.S778 0.978 pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors BMP1 HGNC BNIP2 663 genome.wustl.edu 37 15 59955924 59955924 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 59955924 59955924 C G SNP BNIP2 ENST00000478981 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors BNIP2 HGNC BPIFB3 359710 genome.wustl.edu 37 20 31656710 31656710 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 31656710 31656710 C T SNP BPIFB3 ENST00000375494 human ensembl 70_37 +1 known silent c.1080 p.L360 0.889 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB3 HGNC BPIFB6 128859 genome.wustl.edu 37 20 31622596 31622596 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 31622596 31622596 C T SNP BPIFB6 ENST00000349552 human ensembl 70_37 +1 known silent c.330 p.I110 0.392 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB6 HGNC BPIFC 254240 genome.wustl.edu 37 22 32843292 32843292 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 32843292 32843292 G A SNP BPIFC ENST00000300399 human ensembl 70_37 -1 known missense c.281 p.S94L 0.958 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFC HGNC BPTF 2186 genome.wustl.edu 37 17 65908690 65908690 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 65908690 65908690 G A SNP BPTF ENST00000321892 human ensembl 70_37 +1 known missense c.5068 p.E1690K 1.000 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 BRD4 23476 genome.wustl.edu 37 19 15349979 15349979 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 15349979 15349979 C T SNP BRD4 ENST00000263377 human ensembl 70_37 -1 known missense c.3673 p.E1225K 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC BRD8 10902 genome.wustl.edu 37 5 137513280 137513280 + Nonsense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 137513280 137513280 C A SNP BRD8 ENST00000455658 human ensembl 70_37 -1 known nonsense c.43 p.E15* 1.000 superfamily_Peptidase_M20_dimer pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC BRDT 676 genome.wustl.edu 37 1 92470029 92470029 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 92470029 92470029 C T SNP BRDT ENST00000362005 human ensembl 70_37 +1 known missense c.2447 p.S816L 0.981 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRDT HGNC BRICD5 283870 genome.wustl.edu 37 16 2259701 2259701 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 2259701 2259701 C T SNP BRICD5 ENST00000562360 human ensembl 70_37 -1 known missense c.445 p.E149K 0.002 pfam_BRICHOS_dom,pfscan_BRICHOS_dom pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors BRICD5 HGNC BRIP1 83990 genome.wustl.edu 37 17 59821859 59821859 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 59821859 59821859 C G SNP BRIP1 ENST00000259008 human ensembl 70_37 -1 known missense c.2191 p.E731Q 1.000 smart_ATP-dep_Helicase_C,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors BRIP1 HGNC BRPF3 27154 genome.wustl.edu 37 6 36168129 36168129 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 36168129 36168129 G A SNP BRPF3 ENST00000357641 human ensembl 70_37 +1 known silent c.30 p.Q10 0.994 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF3 HGNC BRSK2 9024 genome.wustl.edu 37 11 1467069 1467069 + Silent SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 1467069 1467069 C A SNP BRSK2 ENST00000382179 human ensembl 70_37 +1 known silent c.1296 p.L432 0.998 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors BRSK2 HGNC BSN 8927 genome.wustl.edu 37 3 49689465 49689465 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 49689465 49689465 C A SNP BSN ENST00000296452 human ensembl 70_37 +1 known missense c.2476 p.L826I 0.095 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC BSPH1 100131137 genome.wustl.edu 37 19 48495318 48495318 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 48495318 48495318 G C SNP BSPH1 ENST00000344839 human ensembl 70_37 -1 known silent c.21 p.L7 0.000 NULL pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors BSPH1 HGNC BSPRY 54836 genome.wustl.edu 37 9 116116519 116116519 + Splice_Site SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 116116519 116116519 G A SNP BSPRY ENST00000374183 human ensembl 70_37 +1 known splice_site c.202-1 e2-1 1.000 - - - no_errors BSPRY HGNC BST1 683 genome.wustl.edu 37 4 15713435 15713435 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 15713435 15713435 G A SNP BST1 ENST00000265016 human ensembl 70_37 +1 known missense c.457 p.D153N 0.940 pfam_ADP-ribosyl_cyclase pfam_ADP-ribosyl_cyclase - no_errors BST1 HGNC BTBD18 643376 genome.wustl.edu 37 11 57512547 57512547 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 57512547 57512547 G A SNP BTBD18 ENST00000422652 human ensembl 70_37 -1 known nonsense c.1198 p.Q400* 0.008 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors BTBD18 HGNC BTBD18 643376 genome.wustl.edu 37 11 57518610 57518610 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 57518610 57518610 G A SNP BTBD18 ENST00000422652 human ensembl 70_37 -1 known silent c.51 p.L17 0.995 superfamily_BTB/POZ_fold pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors BTBD18 HGNC BTBD7 55727 genome.wustl.edu 37 14 93760445 93760445 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 93760445 93760445 C G SNP BTBD7 ENST00000334746 human ensembl 70_37 -1 known missense c.921 p.L307F 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC BTBD9 114781 genome.wustl.edu 37 6 38548046 38548046 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 38548046 38548046 G C SNP BTBD9 ENST00000403056 human ensembl 70_37 -1 known missense c.982 p.Q328E 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like pfam_BTB_POZ,pfam_BACK,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_BTB/POZ_fold,superfamily_Galactose-bd-like,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD9 HGNC BTF3 689 genome.wustl.edu 37 5 72801062 72801062 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 72801062 72801062 G A SNP BTF3 ENST00000380591 human ensembl 70_37 +1 known silent c.620 p.*207 1.000 NULL pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx - no_errors BTF3 HGNC BTN3A1 11119 genome.wustl.edu 37 6 26411346 26411346 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 26411346 26411346 G C SNP BTN3A1 ENST00000289361 human ensembl 70_37 +1 known missense c.974 p.R325T 0.000 pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin - no_errors BTN3A1 HGNC BTNL10 100129094 genome.wustl.edu 37 1 228699379 228699379 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 228699379 228699379 C T SNP BTNL10 ENST00000400948 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors BTNL10 HGNC BUB1 699 genome.wustl.edu 37 2 111416087 111416087 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 111416087 111416087 C T SNP BUB1 ENST00000302759 human ensembl 70_37 -1 known missense c.1416 p.M472I 1.000 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors BUB1 HGNC BZRAP1-AS1 100506779 genome.wustl.edu 37 17 56423689 56423689 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 56423689 56423689 G C SNP BZRAP1-AS1 ENST00000580022 human ensembl 70_37 +1 known rna NULL NULL 0.770 - - - no_errors BZRAP1-AS1 HGNC C11orf57 55216 genome.wustl.edu 37 11 111951136 111951136 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 111951136 111951136 G A SNP C11orf57 ENST00000524989 human ensembl 70_37 +1 known missense c.181 p.D61N 1.000 NULL NULL - no_errors C11orf57 HGNC C11orf65 160140 genome.wustl.edu 37 11 108276164 108276164 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 108276164 108276164 C T SNP C11orf65 ENST00000393084 human ensembl 70_37 -1 known missense c.552 p.M184I 1.000 NULL NULL - no_errors C11orf65 HGNC C12orf49 79794 genome.wustl.edu 37 12 117175742 117175742 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 117175742 117175742 G C SNP C12orf49 ENST00000536380 human ensembl 70_37 -1 known missense c.31 p.P11A 0.023 NULL pfam_UPF0454 - no_errors C12orf49 HGNC C14orf79 122616 genome.wustl.edu 37 14 105452872 105452872 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 105452872 105452872 G C SNP C14orf79 ENST00000547315 human ensembl 70_37 +1 known missense c.104 p.S35T 0.000 NULL NULL - no_errors C14orf79 HGNC C15orf43 145645 genome.wustl.edu 37 15 45250686 45250686 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 45250686 45250686 C A SNP C15orf43 ENST00000340827 human ensembl 70_37 +1 known missense c.262 p.L88I 0.997 NULL NULL - no_errors C15orf43 HGNC C16orf3 750 genome.wustl.edu 37 16 90095558 90095558 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 90095558 90095558 C T SNP C16orf3 ENST00000408886 human ensembl 70_37 -1 known missense c.193 p.G65S 0.000 NULL NULL - no_errors C16orf3 HGNC C16orf91 283951 genome.wustl.edu 37 16 1470076 1470076 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 1470076 1470076 G A SNP C16orf91 ENST00000310355 human ensembl 70_37 -1 known silent c.939 p.L313 0.000 NULL prints_CCSMST1 - no_errors C16orf91 HGNC C16orf91 283951 genome.wustl.edu 37 16 1470400 1470400 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 1470400 1470400 G C SNP C16orf91 ENST00000310355 human ensembl 70_37 -1 known silent c.717 p.L239 0.000 prints_CCSMST1 prints_CCSMST1 - no_errors C16orf91 HGNC C17orf102 400591 genome.wustl.edu 37 17 32904615 32904615 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 32904615 32904615 G C SNP C17orf102 ENST00000357754 human ensembl 70_37 -1 known missense c.435 p.I145M 0.000 NULL NULL - no_errors C17orf102 HGNC C17orf70 80233 genome.wustl.edu 37 17 79513984 79513984 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 79513984 79513984 G C SNP C17orf70 ENST00000327787 human ensembl 70_37 -1 known missense c.2124 p.I708M 0.056 NULL NULL - no_errors C17orf70 HGNC C19orf68 374920 genome.wustl.edu 37 19 48698998 48698998 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 48698998 48698998 G A SNP C19orf68 ENST00000328759 human ensembl 70_37 +1 known nonsense c.1677 p.W559* 1.000 NULL NULL - no_errors C19orf68 HGNC C1QC 714 genome.wustl.edu 37 1 22974165 22974165 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 22974165 22974165 G A SNP C1QC ENST00000374637 human ensembl 70_37 +1 known silent c.627 p.L209 0.467 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QC HGNC C1QC 714 genome.wustl.edu 37 1 22974171 22974171 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 22974171 22974171 G A SNP C1QC ENST00000374637 human ensembl 70_37 +1 known silent c.633 p.L211 0.326 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QC HGNC C1QL1 10882 genome.wustl.edu 37 17 43037648 43037648 + Nonsense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 43037648 43037648 C A SNP C1QL1 ENST00000253407 human ensembl 70_37 -1 known nonsense c.685 p.E229* 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QL1 HGNC C1QTNF1 114897 genome.wustl.edu 37 17 77042726 77042726 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 77042726 77042726 C A SNP C1QTNF1 ENST00000354124 human ensembl 70_37 +1 known missense c.275 p.S92Y 0.797 NULL pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF1 HGNC C1QTNF9 338872 genome.wustl.edu 37 13 24893016 24893016 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 24893016 24893016 G A SNP C1QTNF9 ENST00000332018 human ensembl 70_37 +1 known missense c.227 p.R76Q 0.980 pfam_Collagen pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF9 HGNC C1orf147 574431 genome.wustl.edu 37 1 206665753 206665753 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 206665753 206665753 C T SNP C1orf147 ENST00000367119 human ensembl 70_37 -1 known missense c.781 p.E261K 0.050 NULL NULL - no_errors C1orf147 HGNC C1orf168 199920 genome.wustl.edu 37 1 57185933 57185933 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 57185933 57185933 C T SNP C1orf168 ENST00000343433 human ensembl 70_37 -1 known missense c.2044 p.D682N 0.971 superfamily_SH3_domain superfamily_SH3_domain - no_errors C1orf168 HGNC C1orf204 284677 genome.wustl.edu 37 1 159810561 159810561 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 159810561 159810561 G A SNP C1orf204 ENST00000368102 human ensembl 70_37 -1 novel nonsense c.538 p.Q180* 0.001 NULL NULL - no_errors C1orf204 HGNC C1orf43 25912 genome.wustl.edu 37 1 154185138 154185138 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 154185138 154185138 C T SNP C1orf43 ENST00000493814 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf43 HGNC C1orf43 25912 genome.wustl.edu 37 1 154185145 154185145 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 154185145 154185145 C G SNP C1orf43 ENST00000493814 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf43 HGNC C20orf187 728434 genome.wustl.edu 37 20 11008878 11008878 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 11008878 11008878 G C SNP C20orf187 ENST00000378252 human ensembl 70_37 +1 known missense c.83 p.G28A 0.001 NULL NULL - no_errors C20orf187 HGNC C20orf194 25943 genome.wustl.edu 37 20 3354736 3354736 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 3354736 3354736 C G SNP C20orf194 ENST00000252032 human ensembl 70_37 -1 known missense c.571 p.E191Q 1.000 NULL NULL - no_errors C20orf194 HGNC C20orf196 149840 genome.wustl.edu 37 20 5753632 5753632 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 5753632 5753632 G A SNP C20orf196 ENST00000303142 human ensembl 70_37 +1 known missense c.121 p.E41K 0.017 NULL NULL - no_errors C20orf196 HGNC C2CD2 25966 genome.wustl.edu 37 21 43334762 43334762 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 43334762 43334762 C T SNP C2CD2 ENST00000380486 human ensembl 70_37 -1 known silent c.789 p.L263 0.157 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors C2CD2 HGNC C2CD3 26005 genome.wustl.edu 37 11 73745582 73745582 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 73745582 73745582 C T SNP C2CD3 ENST00000540452 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors C2CD3 HGNC C2CD3 26005 genome.wustl.edu 37 11 73872475 73872475 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 73872475 73872475 G A SNP C2CD3 ENST00000334126 human ensembl 70_37 -1 known missense c.452 p.S151L 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors C2CD3 HGNC C2CD3 26005 genome.wustl.edu 37 11 73881827 73881827 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 73881827 73881827 C T SNP C2CD3 ENST00000334126 human ensembl 70_37 -1 known missense c.11 p.R4Q 0.948 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors C2CD3 HGNC C2orf40 84417 genome.wustl.edu 37 2 106690478 106690478 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 106690478 106690478 C T SNP C2orf40 ENST00000238044 human ensembl 70_37 +1 known silent c.264 p.L88 0.999 NULL NULL - no_errors C2orf40 HGNC C2orf44 80304 genome.wustl.edu 37 2 24260744 24260744 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 24260744 24260744 G A SNP C2orf44 ENST00000295148 human ensembl 70_37 -1 known missense c.1621 p.R541C 0.000 NULL NULL - no_errors C2orf44 HGNC C2orf74 339804 genome.wustl.edu 37 2 61390202 61390202 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 61390202 61390202 C T SNP C2orf74 ENST00000432605 human ensembl 70_37 +1 known silent c.246 p.V82 0.000 NULL NULL - no_errors C2orf74 HGNC C2orf78 388960 genome.wustl.edu 37 2 74044096 74044096 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 74044096 74044096 G C SNP C2orf78 ENST00000409561 human ensembl 70_37 +1 novel missense c.2746 p.E916Q 0.000 NULL NULL - no_errors C2orf78 HGNC C3orf20 84077 genome.wustl.edu 37 3 14746084 14746084 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 14746084 14746084 C G SNP C3orf20 ENST00000253697 human ensembl 70_37 +1 known missense c.1119 p.F373L 0.822 NULL NULL - no_errors C3orf20 HGNC C4orf19 55286 genome.wustl.edu 37 4 37592364 37592364 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 37592364 37592364 G C SNP C4orf19 ENST00000284437 human ensembl 70_37 +1 known missense c.687 p.L229F 0.000 NULL NULL - no_errors C4orf19 HGNC C5orf42 65250 genome.wustl.edu 37 5 37183126 37183126 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 37183126 37183126 G C SNP C5orf42 ENST00000425232 human ensembl 70_37 -1 known missense c.5157 p.F1719L 1.000 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC C5orf42 65250 genome.wustl.edu 37 5 37196095 37196095 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 37196095 37196095 G A SNP C5orf42 ENST00000425232 human ensembl 70_37 -1 known nonsense c.3676 p.R1226* 1.000 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC C5orf46 389336 genome.wustl.edu 37 5 147281297 147281297 + Nonsense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 147281297 147281297 G T SNP C5orf46 ENST00000318315 human ensembl 70_37 -1 known nonsense c.110 p.S37* 0.801 NULL NULL - no_errors C5orf46 HGNC C6orf10 10665 genome.wustl.edu 37 6 32261210 32261210 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 32261210 32261210 C G SNP C6orf10 ENST00000447241 human ensembl 70_37 -1 known missense c.1240 p.E414Q 0.039 NULL NULL - no_errors C6orf10 HGNC C6orf136 221545 genome.wustl.edu 37 6 30618839 30618839 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 30618839 30618839 G C SNP C6orf136 ENST00000293604 human ensembl 70_37 +1 known missense c.1086 p.E362D 1.000 pfam_DUF2358 pfam_DUF2358 - no_errors C6orf136 HGNC C6orf70 55780 genome.wustl.edu 37 6 170169741 170169741 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 170169741 170169741 C G SNP C6orf70 ENST00000366773 human ensembl 70_37 +1 known missense c.1165 p.Q389E 0.228 NULL NULL - no_errors C6orf70 HGNC C7orf72 100130988 genome.wustl.edu 37 7 50198672 50198672 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 50198672 50198672 C T SNP C7orf72 ENST00000297001 human ensembl 70_37 +1 known silent c.1224 p.L408 0.330 NULL NULL - no_errors C7orf72 HGNC C7orf72 100130988 genome.wustl.edu 37 7 50198675 50198675 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 50198675 50198675 C T SNP C7orf72 ENST00000297001 human ensembl 70_37 +1 known silent c.1227 p.F409 0.988 NULL NULL - no_errors C7orf72 HGNC MROH6 642475 genome.wustl.edu 37 8 144650719 144650719 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 144650719 144650719 G A SNP C8orf73 ENST00000533582 human ensembl 70_37 -1 putative rna NULL NULL 0.975 - - - no_errors C8orf73 HGNC CCDC180 100499483 genome.wustl.edu 37 9 100137857 100137857 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 100137857 100137857 G A SNP C9orf174 ENST00000375202 human ensembl 70_37 +1 known missense c.4960 p.D1654N 1.000 NULL NULL - no_errors C9orf174 HGNC C9orf3 84909 genome.wustl.edu 37 9 97694040 97694040 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 97694040 97694040 C G SNP C9orf3 ENST00000473778 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors C9orf3 HGNC CABP1 9478 genome.wustl.edu 37 12 121093965 121093965 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 121093965 121093965 G A SNP CABP1 ENST00000288616 human ensembl 70_37 +1 known missense c.115 p.E39K 0.997 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CABP1 HGNC CACHD1 57685 genome.wustl.edu 37 1 65099937 65099937 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 65099937 65099937 C T SNP CACHD1 ENST00000371073 human ensembl 70_37 +1 known nonsense c.1000 p.Q334* 1.000 pfscan_VWF_A pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC CACHD1 57685 genome.wustl.edu 37 1 65157442 65157442 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 65157442 65157442 G A SNP CACHD1 ENST00000470527 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CACHD1 HGNC CACHD1 57685 genome.wustl.edu 37 1 65157586 65157586 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 65157586 65157586 G C SNP CACHD1 ENST00000470527 human ensembl 70_37 +1 known rna NULL NULL 0.934 - - - no_errors CACHD1 HGNC CACNA1F 778 genome.wustl.edu 37 X 49063285 49063285 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 49063285 49063285 G A SNP CACNA1F ENST00000376265 human ensembl 70_37 -1 known missense c.5296 p.P1766S 0.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC CADPS2 93664 genome.wustl.edu 37 7 122114572 122114572 + Splice_Site SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 122114572 122114572 C T SNP CADPS2 ENST00000449022 human ensembl 70_37 -1 known splice_site c.1862-1 e13-1 1.000 - - - no_errors CADPS2 HGNC CALML6 163688 genome.wustl.edu 37 1 1847898 1847898 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 1847898 1847898 G A SNP CALML6 ENST00000307786 human ensembl 70_37 +1 known missense c.97 p.E33K 0.448 pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CALML6 HGNC CALR 811 genome.wustl.edu 37 19 13050346 13050346 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 13050346 13050346 G C SNP CALR ENST00000316448 human ensembl 70_37 +1 known missense c.298 p.E100Q 1.000 pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,pirsf_Calreticulin,prints_Calret/calnex pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,pirsf_Calreticulin,prints_Calret/calnex - no_errors CALR HGNC CAMK1 8536 genome.wustl.edu 37 3 9803370 9803370 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 9803370 9803370 C G SNP CAMK1 ENST00000256460 human ensembl 70_37 -1 known missense c.501 p.K167N 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CAMK1 HGNC CAMK2A 815 genome.wustl.edu 37 5 149627368 149627368 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 149627368 149627368 G C SNP CAMK2A ENST00000398376 human ensembl 70_37 -1 known missense c.910 p.L304V 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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 CAMK2A HGNC CAMK2B 816 genome.wustl.edu 37 7 44268519 44268519 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 44268519 44268519 G A SNP CAMK2B ENST00000395749 human ensembl 70_37 -1 known silent c.1344 p.P448 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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 CAMK2B HGNC CAMSAP1 157922 genome.wustl.edu 37 9 138754361 138754361 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 138754361 138754361 G C SNP CAMSAP1 ENST00000409386 human ensembl 70_37 -1 known missense c.793 p.L265V 0.975 pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC CAMSAP3 57662 genome.wustl.edu 37 19 7682532 7682532 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 7682532 7682532 G A SNP CAMSAP3 ENST00000446248 human ensembl 70_37 +1 known silent c.3510 p.K1170 1.000 pfam_CKK_domain,superfamily_PRC_barrell-like pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC CAPN1 823 genome.wustl.edu 37 11 64950299 64950299 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 64950299 64950299 G C SNP CAPN1 ENST00000279247 human ensembl 70_37 +1 known missense c.127 p.E43Q 0.998 smart_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN1 HGNC CAPRIN1 4076 genome.wustl.edu 37 11 34097834 34097834 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 34097834 34097834 G C SNP CAPRIN1 ENST00000341394 human ensembl 70_37 +1 known missense c.418 p.E140Q 1.000 NULL pfam_Caprin-1_C - no_errors CAPRIN1 HGNC CAPRIN1 4076 genome.wustl.edu 37 11 34119297 34119297 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 34119297 34119297 G A SNP CAPRIN1 ENST00000341394 human ensembl 70_37 +1 known missense c.2054 p.G685E 1.000 NULL pfam_Caprin-1_C - no_errors CAPRIN1 HGNC CAPS 828 genome.wustl.edu 37 19 5914203 5914203 + Nonsense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 5914203 5914203 C G SNP CAPS ENST00000588776 human ensembl 70_37 +1 putative nonsense c.119 p.S40* 0.021 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CAPS HGNC CARD10 29775 genome.wustl.edu 37 22 37898696 37898696 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 37898696 37898696 G A SNP CARD10 ENST00000251973 human ensembl 70_37 -1 known missense c.1700 p.S567F 0.996 NULL pfam_CARD,superfamily_DEATH-like,pfscan_CARD - no_errors CARD10 HGNC CARD6 84674 genome.wustl.edu 37 5 40843632 40843632 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 40843632 40843632 C T SNP CARD6 ENST00000254691 human ensembl 70_37 +1 known missense c.662 p.P221L 0.016 NULL pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD - no_errors CARD6 HGNC CASK 8573 genome.wustl.edu 37 X 41401971 41401971 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 41401971 41401971 C G SNP CASK ENST00000378163 human ensembl 70_37 -1 known missense c.2128 p.D710H 1.000 superfamily_SH3_domain pfam_Prot_kinase_cat_dom,pfam_Guanylate_kin,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Guanylate_kin - no_errors CASK HGNC CASP1 834 genome.wustl.edu 37 11 104899968 104899968 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 104899968 104899968 C G SNP CASP1 ENST00000436863 human ensembl 70_37 -1 known missense c.889 p.D297H 0.018 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP1 HGNC CATSPER2P1 440278 genome.wustl.edu 37 15 44028365 44028365 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 44028365 44028365 G A SNP CATSPER2P1 ENST00000381680 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CATSPER2P1 HGNC CAV2 858 genome.wustl.edu 37 7 116139970 116139970 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 116139970 116139970 C G SNP CAV2 ENST00000222693 human ensembl 70_37 +1 known silent c.135 p.L45 1.000 pfam_Caveolin pfam_Caveolin - no_errors CAV2 HGNC CBLB 868 genome.wustl.edu 37 3 105459466 105459466 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 105459466 105459466 G C SNP CBLB ENST00000264122 human ensembl 70_37 -1 known missense c.855 p.F285L 1.000 pfam_Adaptor_Cbl_SH2-like pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBLB HGNC CBLC 23624 genome.wustl.edu 37 19 45295700 45295700 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 45295700 45295700 G A SNP CBLC ENST00000270279 human ensembl 70_37 +1 known missense c.1066 p.E356K 0.997 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Adaptor_Cbl_N_hlx,pfam_Znf_C3HC4_RING-type,superfamily_Adaptor_Cbl_N_hlx,smart_Znf_RING,pfscan_Znf_RING - no_errors CBLC HGNC CBWD1 55871 genome.wustl.edu 37 9 161591 161591 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 161591 161591 C G SNP CBWD1 ENST00000465014 human ensembl 70_37 -1 known rna NULL NULL 0.009 - - - no_errors CBWD1 HGNC CC2D2A 57545 genome.wustl.edu 37 4 15581639 15581639 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 15581639 15581639 C G SNP CC2D2A ENST00000413206 human ensembl 70_37 +1 known missense c.3820 p.Q1274E 1.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors CC2D2A HGNC CC2D2B 387707 genome.wustl.edu 37 10 97752362 97752362 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 97752362 97752362 C T SNP CC2D2B ENST00000475252 human ensembl 70_37 +1 known rna NULL NULL 0.758 - - - no_errors CC2D2B HGNC CCDC11 220136 genome.wustl.edu 37 18 47769346 47769346 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 47769346 47769346 C T SNP CCDC11 ENST00000398545 human ensembl 70_37 -1 known silent c.1137 p.L379 0.925 NULL NULL - no_errors CCDC11 HGNC CCDC125 202243 genome.wustl.edu 37 5 68578623 68578623 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 68578623 68578623 G C SNP CCDC125 ENST00000396496 human ensembl 70_37 -1 known missense c.1469 p.S490C 0.000 NULL NULL - no_errors CCDC125 HGNC CCDC125 202243 genome.wustl.edu 37 5 68581257 68581257 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 68581257 68581257 C G SNP CCDC125 ENST00000396496 human ensembl 70_37 -1 known missense c.1137 p.Q379H 0.995 NULL NULL - no_errors CCDC125 HGNC CCDC13 152206 genome.wustl.edu 37 3 42791312 42791312 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 42791312 42791312 C G SNP CCDC13 ENST00000435327 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CCDC13 HGNC CCDC134 79879 genome.wustl.edu 37 22 42205902 42205902 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 42205902 42205902 G A SNP CCDC134 ENST00000255784 human ensembl 70_37 +1 known silent c.123 p.V41 1.000 NULL NULL - no_errors CCDC134 HGNC CCDC144A 9720 genome.wustl.edu 37 17 16623539 16623539 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 16623539 16623539 G C SNP CCDC144A ENST00000360524 human ensembl 70_37 +1 known missense c.1743 p.K581N 0.925 NULL pfam_DUF3496 - no_errors CCDC144A HGNC CCDC147 159686 genome.wustl.edu 37 10 106139912 106139912 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 106139912 106139912 G C SNP CCDC147 ENST00000369704 human ensembl 70_37 +1 known missense c.1299 p.K433N 1.000 NULL superfamily_Homeodomain-like - no_errors CCDC147 HGNC CCDC159 126075 genome.wustl.edu 37 19 11462747 11462747 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 11462747 11462747 G A SNP CCDC159 ENST00000458408 human ensembl 70_37 +1 known missense c.505 p.E169K 0.963 NULL NULL - no_errors CCDC159 HGNC CCDC17 149483 genome.wustl.edu 37 1 46086415 46086415 + Nonsense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 46086415 46086415 C A SNP CCDC17 ENST00000343901 human ensembl 70_37 -1 known nonsense c.1594 p.E532* 0.700 NULL NULL - no_errors CCDC17 HGNC CCDC175 729665 genome.wustl.edu 37 14 59977348 59977348 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 59977348 59977348 C G SNP CCDC175 ENST00000281581 human ensembl 70_37 -1 known missense c.2321 p.R774T 0.000 NULL superfamily_Prefoldin - no_errors CCDC175 HGNC EFCC1 79825 genome.wustl.edu 37 3 128751707 128751707 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 128751707 128751707 C G SNP CCDC48 ENST00000480450 human ensembl 70_37 +1 novel missense c.1181 p.S394C 1.000 NULL pfscan_EF_HAND_2 - no_errors CCDC48 HGNC CCDC66 285331 genome.wustl.edu 37 3 56597937 56597937 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 56597937 56597937 G C SNP CCDC66 ENST00000394672 human ensembl 70_37 +1 known missense c.328 p.E110Q 0.005 NULL NULL - no_errors CCDC66 HGNC CCDC66 285331 genome.wustl.edu 37 3 56653391 56653391 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 56653391 56653391 G C SNP CCDC66 ENST00000394672 human ensembl 70_37 +1 known missense c.2471 p.R824T 0.929 NULL NULL - no_errors CCDC66 HGNC CCDC77 84318 genome.wustl.edu 37 12 498568 498568 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 498568 498568 C G SNP CCDC77 ENST00000537453 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors CCDC77 HGNC CCDC88A 55704 genome.wustl.edu 37 2 55563907 55563907 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 55563907 55563907 C T SNP CCDC88A ENST00000436346 human ensembl 70_37 -1 known silent c.1566 p.Q522 1.000 pfam_HOOK,superfamily_t-SNARE pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC CCDC91 55297 genome.wustl.edu 37 12 28544303 28544303 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 28544303 28544303 G C SNP CCDC91 ENST00000381259 human ensembl 70_37 +1 known missense c.721 p.E241Q 1.000 NULL NULL - no_errors CCDC91 HGNC CCL15 6359 genome.wustl.edu 37 17 34325388 34325388 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 34325388 34325388 G A SNP CCL15 ENST00000354059 human ensembl 70_37 -1 known missense c.176 p.S59L 0.000 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL15 HGNC CCR2 729230 genome.wustl.edu 37 3 46398967 46398967 + Splice_Site SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 46398967 46398967 G C SNP CCR2 ENST00000292301 human ensembl 70_37 +1 known splice_site c.1-1 e1-1 0.192 - - - no_errors CCR2 HGNC CCT3 7203 genome.wustl.edu 37 1 156290680 156290680 + Nonsense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 156290680 156290680 C A SNP CCT3 ENST00000295688 human ensembl 70_37 -1 known nonsense c.559 p.E187* 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_gamma pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_gamma - no_errors CCT3 HGNC CCT5 22948 genome.wustl.edu 37 5 10261015 10261015 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 10261015 10261015 G A SNP CCT5 ENST00000280326 human ensembl 70_37 +1 known missense c.985 p.E329K 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_epsi pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi - no_errors CCT5 HGNC CCT6P1 643253 genome.wustl.edu 37 7 65228309 65228309 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 65228309 65228309 C G SNP CCT6P1 ENST00000442266 human ensembl 70_37 +1 known rna NULL NULL 0.990 - - - no_errors CCT6P1 HGNC CD8B 926 genome.wustl.edu 37 2 87085223 87085223 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 87085223 87085223 C T SNP CD8B ENST00000331469 human ensembl 70_37 -1 known silent c.360 p.G120 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors CD8B HGNC CD99L2 83692 genome.wustl.edu 37 X 149998024 149998024 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 149998024 149998024 G T SNP CD99L2 ENST00000320893 human ensembl 70_37 -1 known missense c.184 p.L62M 0.006 NULL NULL - no_errors CD99L2 HGNC CDC23 8697 genome.wustl.edu 37 5 137534364 137534364 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 137534364 137534364 G C SNP CDC23 ENST00000394886 human ensembl 70_37 -1 known silent c.762 p.L254 1.000 pfscan_TPR-contain_dom pfam_APC8,pfam_TPR-1,pfam_Transposase_InsH_N,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC23 HGNC CDC42BPA 8476 genome.wustl.edu 37 1 227381439 227381439 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 227381439 227381439 G C SNP CDC42BPA ENST00000478573 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CDC42BPA HGNC CDCA2 157313 genome.wustl.edu 37 8 25317769 25317769 + Nonsense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 25317769 25317769 C G SNP CDCA2 ENST00000330560 human ensembl 70_37 +1 known nonsense c.14 p.S5* 0.024 NULL NULL - no_errors CDCA2 HGNC CDCA5 113130 genome.wustl.edu 37 11 64847036 64847036 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 64847036 64847036 G C SNP CDCA5 ENST00000275517 human ensembl 70_37 -1 known missense c.467 p.S156C 0.588 pfam_Sororin pfam_Sororin - no_errors CDCA5 HGNC CDCA5 113130 genome.wustl.edu 37 11 64847126 64847126 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 64847126 64847126 G A SNP CDCA5 ENST00000275517 human ensembl 70_37 -1 known missense c.377 p.S126F 0.001 pfam_Sororin pfam_Sororin - no_errors CDCA5 HGNC CDH10 1008 genome.wustl.edu 37 5 24487404 24487404 + RNA SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 24487404 24487404 C A SNP CDH10 ENST00000502921 human ensembl 70_37 -1 known rna NULL NULL 0.971 - - - no_errors CDH10 HGNC CDHR2 54825 genome.wustl.edu 37 5 175998219 175998219 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 175998219 175998219 G C SNP CDHR2 ENST00000261944 human ensembl 70_37 +1 known missense c.321 p.Q107H 0.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC CDK10 8558 genome.wustl.edu 37 16 89758907 89758907 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 89758907 89758907 G C SNP CDK10 ENST00000353379 human ensembl 70_37 +1 known missense c.468 p.R156S 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK10 HGNC CDK5RAP3 80279 genome.wustl.edu 37 17 46054077 46054077 + Splice_Site SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 46054077 46054077 G A SNP CDK5RAP3 ENST00000338399 human ensembl 70_37 +1 known splice_site c.799-1 e9-1 1.000 - - - no_errors CDK5RAP3 HGNC CDKAL1 54901 genome.wustl.edu 37 6 20649602 20649602 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 20649602 20649602 C T SNP CDKAL1 ENST00000274695 human ensembl 70_37 +1 known missense c.365 p.S122L 1.000 pfam_Methylthiotransferase_N,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase pfam_Methylthiotransferase_N,pfam_rSAM,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase - no_errors CDKAL1 HGNC CDKN2B 1030 genome.wustl.edu 37 9 22008871 22008871 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 22008871 22008871 C G SNP CDKN2B ENST00000276925 human ensembl 70_37 -1 known missense c.82 p.E28Q 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2B HGNC CDON 50937 genome.wustl.edu 37 11 125880590 125880590 + Splice_Site SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 125880590 125880590 C G SNP CDON ENST00000392693 human ensembl 70_37 -1 known splice_site c.1199-1 e7-1 0.993 - - - no_errors CDON HGNC CDS2 8760 genome.wustl.edu 37 20 5169736 5169736 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 5169736 5169736 C T SNP CDS2 ENST00000460006 human ensembl 70_37 +1 known silent c.1005 p.F335 1.000 pfam_PC_trans,pirsf_PC_Trfase_euk pfam_PC_trans,pirsf_PC_Trfase_euk - no_errors CDS2 HGNC CECR1 51816 genome.wustl.edu 37 22 17672622 17672622 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 17672622 17672622 C T SNP CECR1 ENST00000262607 human ensembl 70_37 -1 known missense c.832 p.E278K 0.000 pfam_A/AMP_deaminase_dom,tigrfam_Ad_deam-like pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like - no_errors CECR1 HGNC CECR2 27443 genome.wustl.edu 37 22 18027888 18027888 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 18027888 18027888 G C SNP CECR2 ENST00000400573 human ensembl 70_37 +1 novel missense c.2845 p.E949Q 0.991 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors CECR2 HGNC CELA3A 10136 genome.wustl.edu 37 1 22329499 22329499 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 22329499 22329499 C T SNP CELA3A ENST00000290122 human ensembl 70_37 +1 known missense c.47 p.S16L 0.750 superfamily_Pept_cys/ser_Trypsin-like pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CELA3A HGNC CELSR1 9620 genome.wustl.edu 37 22 46760101 46760101 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 46760101 46760101 C T SNP CELSR1 ENST00000262738 human ensembl 70_37 -1 known missense c.8827 p.E2943K 1.000 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC CELSR3 1951 genome.wustl.edu 37 3 48680447 48680447 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 48680447 48680447 G C SNP CELSR3 ENST00000544264 human ensembl 70_37 -1 known missense c.8374 p.L2792V 1.000 NULL pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC CEP112 201134 genome.wustl.edu 37 17 64025251 64025251 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 64025251 64025251 G A SNP CEP112 ENST00000392769 human ensembl 70_37 -1 known missense c.1493 p.S498L 0.311 NULL superfamily_t-SNARE - no_errors CEP112 HGNC CEP135 9662 genome.wustl.edu 37 4 56858218 56858218 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 56858218 56858218 C T SNP CEP135 ENST00000257287 human ensembl 70_37 +1 known missense c.1976 p.S659L 1.000 NULL superfamily_Prefoldin - no_errors CEP135 HGNC CEP152 22995 genome.wustl.edu 37 15 49076266 49076266 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 49076266 49076266 G C SNP CEP152 ENST00000380950 human ensembl 70_37 -1 known missense c.1225 p.Q409E 0.887 NULL NULL - no_errors CEP152 HGNC CEP152 22995 genome.wustl.edu 37 15 49085632 49085632 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 49085632 49085632 G A SNP CEP152 ENST00000380950 human ensembl 70_37 -1 known nonsense c.718 p.Q240* 1.000 NULL NULL - no_errors CEP152 HGNC CEP55 55165 genome.wustl.edu 37 10 95262912 95262912 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 95262912 95262912 C G SNP CEP55 ENST00000371485 human ensembl 70_37 +1 known missense c.226 p.Q76E 0.029 NULL pfam_EABR - no_errors CEP55 HGNC CETP 1071 genome.wustl.edu 37 16 57017521 57017521 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 57017521 57017521 G A SNP CETP ENST00000200676 human ensembl 70_37 +1 known silent c.1425 p.Q475 1.000 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer - no_errors CETP HGNC CFI 3426 genome.wustl.edu 37 4 110667465 110667465 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 110667465 110667465 G A SNP CFI ENST00000394634 human ensembl 70_37 -1 known missense c.1342 p.R448C 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Srcr_rcpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_FacI_MAC,smart_Srcr_rcpt-rel,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pfscan_LDrepeatLR_classA_rpt,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CFI HGNC CFP 5199 genome.wustl.edu 37 X 47487588 47487588 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 47487588 47487588 C G SNP CFP ENST00000247153 human ensembl 70_37 -1 known missense c.316 p.G106R 0.701 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors CFP HGNC CGB7 94027 genome.wustl.edu 37 19 49561977 49561977 + RNA SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 49561977 49561977 G T SNP CGB7 ENST00000598442 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors CGB7 HGNC CHD4 1108 genome.wustl.edu 37 12 6687053 6687053 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 6687053 6687053 C T SNP CHD4 ENST00000309577 human ensembl 70_37 -1 known silent c.5343 p.Q1781 1.000 pfam_CHD_C2 pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC CHD4 1108 genome.wustl.edu 37 12 6711619 6711619 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 6711619 6711619 G C SNP CHD4 ENST00000309577 human ensembl 70_37 -1 known missense c.145 p.P49A 1.000 NULL pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC CHD9 80205 genome.wustl.edu 37 16 53341657 53341657 + Nonsense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 53341657 53341657 C G SNP CHD9 ENST00000398510 human ensembl 70_37 +1 known nonsense c.6845 p.S2282* 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC CHERP 10523 genome.wustl.edu 37 19 16630141 16630141 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 16630141 16630141 G A SNP CHERP ENST00000546361 human ensembl 70_37 -1 known silent c.2580 p.L860 0.851 pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors CHERP HGNC CHRD 8646 genome.wustl.edu 37 3 184100681 184100681 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 184100681 184100681 C T SNP CHRD ENST00000420973 human ensembl 70_37 +1 known missense c.991 p.P331S 1.000 pfscan_CHRD pfam_CHRD,pfam_VWF_C,smart_CHRD,pfscan_CHRD,pfscan_VWF_C - no_errors CHRD HGNC CHRD 8646 genome.wustl.edu 37 3 184102886 184102886 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 184102886 184102886 G A SNP CHRD ENST00000204604 human ensembl 70_37 +1 known missense c.1678 p.D560N 1.000 pfam_CHRD,smart_CHRD,pirsf_Chordin,pfscan_CHRD pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C - no_errors CHRD HGNC CHRD 8646 genome.wustl.edu 37 3 184107189 184107189 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 184107189 184107189 G C SNP CHRD ENST00000204604 human ensembl 70_37 +1 known missense c.2847 p.E949D 1.000 pirsf_Chordin pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C - no_errors CHRD HGNC CHRFAM7A 89832 genome.wustl.edu 37 15 30665258 30665258 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 30665258 30665258 C T SNP CHRFAM7A ENST00000299847 human ensembl 70_37 -1 known missense c.251 p.G84E 0.991 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel - no_errors CHRFAM7A HGNC CHRM4 1132 genome.wustl.edu 37 11 46407230 46407230 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 46407230 46407230 G C SNP CHRM4 ENST00000433765 human ensembl 70_37 -1 known missense c.878 p.S293C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M4_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_rcpt,prints_GPCR_Rhodpsn,prints_Musac_M4_rcpt - no_errors CHRM4 HGNC CIC 23152 genome.wustl.edu 37 19 42791223 42791223 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 42791223 42791223 G C SNP CIC ENST00000160740 human ensembl 70_37 +1 known missense c.283 p.E95Q 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors CIC HGNC CILP 8483 genome.wustl.edu 37 15 65495766 65495766 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 65495766 65495766 C T SNP CILP ENST00000261883 human ensembl 70_37 -1 known missense c.962 p.R321K 0.991 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors CILP HGNC CIRH1A 84916 genome.wustl.edu 37 16 69199375 69199375 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 69199375 69199375 G A SNP CIRH1A ENST00000314423 human ensembl 70_37 +1 known silent c.1779 p.P593 0.883 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CIRH1A HGNC CIT 11113 genome.wustl.edu 37 12 120260769 120260769 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 120260769 120260769 C G SNP CIT ENST00000261833 human ensembl 70_37 -1 known missense c.966 p.L322F 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,pirsf_Citron_Rho-interacting_kinase,pfscan_Prot_kinase_cat_dom pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CIT HGNC CKAP2 26586 genome.wustl.edu 37 13 53035894 53035894 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 53035894 53035894 G C SNP CKAP2 ENST00000378037 human ensembl 70_37 +1 known missense c.936 p.K312N 0.000 NULL NULL - no_errors CKAP2 HGNC CKAP5 9793 genome.wustl.edu 37 11 46806154 46806154 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 46806154 46806154 G A SNP CKAP5 ENST00000415402 human ensembl 70_37 -1 known nonsense c.2038 p.Q680* 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC CKB 1152 genome.wustl.edu 37 14 103986313 103986313 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 103986313 103986313 G C SNP CKB ENST00000348956 human ensembl 70_37 -1 known nonsense c.1034 p.S345* 1.000 pfam_ATP-guanido_PTrfase_cat pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N - no_errors CKB HGNC CKMT2 1160 genome.wustl.edu 37 5 80559431 80559431 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 80559431 80559431 C T SNP CKMT2 ENST00000254035 human ensembl 70_37 +1 known missense c.1136 p.S379L 1.000 pfam_ATP-guanido_PTrfase_cat pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N - no_errors CKMT2 HGNC CLCNKA 1187 genome.wustl.edu 37 1 16355708 16355708 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16355708 16355708 G A SNP CLCNKA ENST00000331433 human ensembl 70_37 +1 known missense c.1141 p.E381K 0.855 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKA HGNC CLDN12 9069 genome.wustl.edu 37 7 90099218 90099218 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 90099218 90099218 C G SNP CLDN12 ENST00000498033 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CLDN12 HGNC CLDN2 9075 genome.wustl.edu 37 X 106171611 106171611 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 106171611 106171611 G C SNP CLDN2 ENST00000336803 human ensembl 70_37 +1 known missense c.153 p.W51C 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin2,prints_Claudin,prints_Claudin14 - no_errors CLDN2 HGNC CLDN20 49861 genome.wustl.edu 37 6 155596973 155596973 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 155596973 155596973 C T SNP CLDN20 ENST00000367165 human ensembl 70_37 +1 known silent c.120 p.I40 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN20 HGNC CLEC17A 388512 genome.wustl.edu 37 19 14703128 14703128 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 14703128 14703128 G C SNP CLEC17A ENST00000417570 human ensembl 70_37 +1 known missense c.235 p.E79Q 0.158 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC17A HGNC CLEC4G 339390 genome.wustl.edu 37 19 7794814 7794814 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 7794814 7794814 G A SNP CLEC4G ENST00000328853 human ensembl 70_37 -1 known silent c.636 p.L212 0.275 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,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4G HGNC CLIP1 6249 genome.wustl.edu 37 12 122763443 122763443 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 122763443 122763443 G C SNP CLIP1 ENST00000540338 human ensembl 70_37 -1 known nonsense c.3812 p.S1271* 0.695 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain - no_errors CLIP1 HGNC CLK2 1196 genome.wustl.edu 37 1 155239463 155239463 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 155239463 155239463 C T SNP CLK2 ENST00000368361 human ensembl 70_37 -1 known missense c.215 p.R72Q 0.996 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CLK2 HGNC CLSTN2 64084 genome.wustl.edu 37 3 140281106 140281106 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 140281106 140281106 G C SNP CLSTN2 ENST00000458420 human ensembl 70_37 +1 known missense c.2168 p.R723P 1.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC CLUAP1 23059 genome.wustl.edu 37 16 3569995 3569995 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 3569995 3569995 G A SNP CLUAP1 ENST00000576634 human ensembl 70_37 +1 known silent c.672 p.L224 1.000 pfam_Clusterin-associated_protein-1 pfam_Clusterin-associated_protein-1,superfamily_CH-domain - no_errors CLUAP1 HGNC CLVS2 134829 genome.wustl.edu 37 6 123376999 123376999 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 123376999 123376999 C A SNP CLVS2 ENST00000275162 human ensembl 70_37 +1 known missense c.724 p.P242T 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors CLVS2 HGNC CMTM1 113540 genome.wustl.edu 37 16 66612745 66612745 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 66612745 66612745 C T SNP CMTM1 ENST00000332695 human ensembl 70_37 +1 known silent c.210 p.L70 0.893 NULL NULL - no_errors CMTM1 HGNC CMYA5 202333 genome.wustl.edu 37 5 79027767 79027767 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 79027767 79027767 C T SNP CMYA5 ENST00000446378 human ensembl 70_37 +1 known missense c.3179 p.S1060L 0.042 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC CNBD2 140894 genome.wustl.edu 37 20 34599162 34599162 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 34599162 34599162 G C SNP CNBD2 ENST00000373973 human ensembl 70_37 +1 known missense c.1252 p.E418Q 1.000 superfamily_cNMP-bd-like pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNBD2 HGNC CNGA3 1261 genome.wustl.edu 37 2 98996712 98996712 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 98996712 98996712 C G SNP CNGA3 ENST00000272602 human ensembl 70_37 +1 known missense c.290 p.S97C 1.000 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA3 HGNC CNOT3 4849 genome.wustl.edu 37 19 54647772 54647772 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 54647772 54647772 G A SNP CNOT3 ENST00000221232 human ensembl 70_37 +1 known missense c.289 p.E97K 1.000 pfam_Not_N,pirsf_CCR4-NOT_su3/5 pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5 - no_errors CNOT3 HGNC CNOT6L 246175 genome.wustl.edu 37 4 78663337 78663337 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 78663337 78663337 C G SNP CNOT6L ENST00000264903 human ensembl 70_37 -1 known missense c.830 p.R277T 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp - no_errors CNOT6L HGNC CNTN6 27255 genome.wustl.edu 37 3 1369193 1369193 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 1369193 1369193 C T SNP CNTN6 ENST00000350110 human ensembl 70_37 +1 known missense c.1136 p.S379L 0.982 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN6 HGNC CNTNAP1 8506 genome.wustl.edu 37 17 40849680 40849680 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 40849680 40849680 G A SNP CNTNAP1 ENST00000264638 human ensembl 70_37 +1 known missense c.3677 p.R1226Q 0.998 pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC CNTNAP2 26047 genome.wustl.edu 37 7 146825844 146825844 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 146825844 146825844 C G SNP CNTNAP2 ENST00000361727 human ensembl 70_37 +1 known missense c.999 p.F333L 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC CNTNAP4 85445 genome.wustl.edu 37 16 76572100 76572100 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 76572100 76572100 C A SNP CNTNAP4 ENST00000307431 human ensembl 70_37 +1 known missense c.3080 p.A1027D 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC CNTNAP5 129684 genome.wustl.edu 37 2 125175029 125175029 + Frame_Shift_Del DEL G G - TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 125175029 125175029 G - DEL CNTNAP5 ENST00000431078 human ensembl 70_37 +1 known frame_shift_del c.391 p.G131fs 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC CNTRL 11064 genome.wustl.edu 37 9 123888128 123888128 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 123888128 123888128 G A SNP CNTRL ENST00000238341 human ensembl 70_37 +1 known missense c.1939 p.E647K 1.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC CNTRL 11064 genome.wustl.edu 37 9 123888142 123888142 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 123888142 123888142 G A SNP CNTRL ENST00000238341 human ensembl 70_37 +1 known silent c.1953 p.Q651 0.960 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC COG8 84342 genome.wustl.edu 37 16 69354271 69354271 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 69354271 69354271 G C SNP COG8 ENST00000564419 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors COG8 HGNC COIL 8161 genome.wustl.edu 37 17 55027347 55027347 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 55027347 55027347 C T SNP COIL ENST00000240316 human ensembl 70_37 -1 known missense c.1256 p.R419Q 0.983 NULL NULL - no_errors COIL HGNC COL11A1 1301 genome.wustl.edu 37 1 103474021 103474021 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 103474021 103474021 G A SNP COL11A1 ENST00000358392 human ensembl 70_37 -1 known nonsense c.1717 p.Q573* 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC COL11A1 1301 genome.wustl.edu 37 1 103474059 103474059 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 103474059 103474059 G A SNP COL11A1 ENST00000358392 human ensembl 70_37 -1 known missense c.1679 p.S560L 0.865 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC COL17A1 1308 genome.wustl.edu 37 10 105815742 105815742 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 105815742 105815742 C T SNP COL17A1 ENST00000353479 human ensembl 70_37 -1 known silent c.1485 p.L495 1.000 NULL pfam_Collagen - no_errors COL17A1 HGNC COL17A1 1308 genome.wustl.edu 37 10 105817941 105817941 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 105817941 105817941 C G SNP COL17A1 ENST00000353479 human ensembl 70_37 -1 known silent c.1230 p.L410 0.261 NULL pfam_Collagen - no_errors COL17A1 HGNC COL20A1 57642 genome.wustl.edu 37 20 61943400 61943400 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 61943400 61943400 C T SNP COL20A1 ENST00000326996 human ensembl 70_37 +1 known missense c.1796 p.S599L 0.005 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC COL25A1 84570 genome.wustl.edu 37 4 109841754 109841754 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 109841754 109841754 G C SNP COL25A1 ENST00000399132 human ensembl 70_37 -1 known missense c.715 p.L239V 1.000 pfam_Collagen pfam_Collagen - no_errors COL25A1 HGNC COL2A1 1280 genome.wustl.edu 37 12 48369281 48369281 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 48369281 48369281 G A SNP COL2A1 ENST00000380518 human ensembl 70_37 -1 known silent c.3705 p.P1235 0.795 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC COL4A3 1285 genome.wustl.edu 37 2 228134682 228134682 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 228134682 228134682 C G SNP COL4A3 ENST00000396578 human ensembl 70_37 +1 known missense c.1561 p.L521V 0.410 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC COL4A3 1285 genome.wustl.edu 37 2 228172593 228172593 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 228172593 228172593 C G SNP COL4A3 ENST00000396578 human ensembl 70_37 +1 known missense c.4420 p.L1474V 1.000 pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC COL6A3 1293 genome.wustl.edu 37 2 238283622 238283622 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 238283622 238283622 C G SNP COL6A3 ENST00000295550 human ensembl 70_37 -1 known missense c.3112 p.E1038Q 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 COPA 1314 genome.wustl.edu 37 1 160261692 160261692 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 160261692 160261692 C T SNP COPA ENST00000368069 human ensembl 70_37 -1 known missense c.3202 p.E1068K 1.000 pfam_Coatomer_asu_C,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC COPG1 22820 genome.wustl.edu 37 3 128971466 128971466 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 128971466 128971466 G A SNP COPG1 ENST00000314797 human ensembl 70_37 +1 known missense c.172 p.G58R 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Coatomer_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu - no_errors COPG1 HGNC COPG1 22820 genome.wustl.edu 37 3 128984496 128984496 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 128984496 128984496 C T SNP COPG1 ENST00000314797 human ensembl 70_37 +1 known silent c.1329 p.I443 0.099 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Coatomer_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu - no_errors COPG1 HGNC COQ7 10229 genome.wustl.edu 37 16 19089473 19089473 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 19089473 19089473 G C SNP COQ7 ENST00000321998 human ensembl 70_37 +1 known missense c.647 p.R216T 1.000 pfam_Ubq_synth_Coq7 pfam_Ubq_synth_Coq7,superfamily_Ferritin/RNR-like - no_errors COQ7 HGNC COX15 1355 genome.wustl.edu 37 10 101476233 101476233 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 101476233 101476233 G C SNP COX15 ENST00000497381 human ensembl 70_37 -1 known rna NULL NULL 0.080 - - - no_errors COX15 HGNC COX7A2L 9167 genome.wustl.edu 37 2 42580342 42580342 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 42580342 42580342 C G SNP COX7A2L ENST00000463055 human ensembl 70_37 -1 putative missense c.214 p.D72H 0.012 NULL NULL - no_errors COX7A2L HGNC CPA3 1359 genome.wustl.edu 37 3 148596241 148596241 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 148596241 148596241 G T SNP CPA3 ENST00000296046 human ensembl 70_37 +1 known missense c.283 p.D95Y 0.994 pfam_Prot_inh_M14A,superfamily_Prot_inh_propept pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA3 HGNC CPN1 1369 genome.wustl.edu 37 10 101802222 101802222 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 101802222 101802222 C G SNP CPN1 ENST00000370418 human ensembl 70_37 -1 known missense c.1339 p.E447Q 0.000 NULL pfam_Peptidase_M14,pfam_DUF2817,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPN1 HGNC CPNE1 8904 genome.wustl.edu 37 20 34213974 34213974 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 34213974 34213974 C T SNP CPNE1 ENST00000498814 human ensembl 70_37 -1 known rna NULL NULL 0.018 - - - no_errors CPNE1 HGNC CPSF3 51692 genome.wustl.edu 37 2 9568944 9568944 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 9568944 9568944 G A SNP CPSF3 ENST00000238112 human ensembl 70_37 +1 known missense c.101 p.G34E 1.000 pfam_Beta-lactamas-like,smart_Beta-lactamas-like pfam_CPSF73-100_C,pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like - no_errors CPSF3 HGNC CPSF6 11052 genome.wustl.edu 37 12 69656167 69656167 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 69656167 69656167 G C SNP CPSF6 ENST00000266679 human ensembl 70_37 +1 known missense c.1595 p.R532T 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPSF6 HGNC CPSF7 79869 genome.wustl.edu 37 11 61183222 61183222 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 61183222 61183222 C T SNP CPSF7 ENST00000340437 human ensembl 70_37 -1 known missense c.1129 p.E377K 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPSF7 HGNC CPXM2 119587 genome.wustl.edu 37 10 125506281 125506281 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 125506281 125506281 C T SNP CPXM2 ENST00000241305 human ensembl 70_37 -1 known silent c.2270 p.*757 0.374 NULL pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM2 HGNC CREBBP 1387 genome.wustl.edu 37 16 3781798 3781798 + Silent SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 3781798 3781798 G T SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known silent c.4869 p.A1623 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC CREBRF 153222 genome.wustl.edu 37 5 172518062 172518062 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 172518062 172518062 G C SNP CREBRF ENST00000540014 human ensembl 70_37 +1 known missense c.880 p.E294Q 1.000 NULL NULL - no_errors CREBRF HGNC CREBRF 153222 genome.wustl.edu 37 5 172518290 172518290 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 172518290 172518290 G A SNP CREBRF ENST00000540014 human ensembl 70_37 +1 known missense c.1108 p.D370N 1.000 NULL NULL - no_errors CREBRF HGNC CRISPLD1 83690 genome.wustl.edu 37 8 75944458 75944458 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 75944458 75944458 G C SNP CRISPLD1 ENST00000262207 human ensembl 70_37 +1 known missense c.1484 p.R495T 1.000 superfamily_LCCL pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD1 HGNC CRLF1 9244 genome.wustl.edu 37 19 18704914 18704914 + Nonsense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 18704914 18704914 C A SNP CRLF1 ENST00000392386 human ensembl 70_37 -1 known nonsense c.1216 p.E406* 1.000 NULL pfam_Fibronectin_type3,pfam_Growth/epo_recpt_lig-bind,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CRLF1 HGNC CROCCP3 114819 genome.wustl.edu 37 1 16812997 16812997 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16812997 16812997 C T SNP CROCCP3 ENST00000263511 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CROCCP3 HGNC CRTC1 23373 genome.wustl.edu 37 19 18853807 18853807 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 18853807 18853807 G A SNP CRTC1 ENST00000338797 human ensembl 70_37 +1 known missense c.214 p.G72R 1.000 NULL NULL - no_errors CRTC1 HGNC CRTC1 23373 genome.wustl.edu 37 19 18853808 18853808 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 18853808 18853808 G A SNP CRTC1 ENST00000338797 human ensembl 70_37 +1 known missense c.215 p.G72E 1.000 NULL NULL - no_errors CRTC1 HGNC CRX 1406 genome.wustl.edu 37 19 48343087 48343087 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 48343087 48343087 G A SNP CRX ENST00000221996 human ensembl 70_37 +1 known missense c.763 p.G255S 0.992 NULL pfam_Homeodomain,pfam_Otx_TF_C,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors CRX HGNC CRYM-AS1 400508 genome.wustl.edu 37 16 21328903 21328903 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 21328903 21328903 C T SNP CRYM-AS1 ENST00000338573 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CRYM-AS1 HGNC CSAG1 158511 genome.wustl.edu 37 X 151908883 151908883 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 151908883 151908883 G A SNP CSAG1 ENST00000370287 human ensembl 70_37 +1 known missense c.122 p.R41Q 0.015 NULL NULL - no_errors CSAG1 HGNC CSMD1 64478 genome.wustl.edu 37 8 2796226 2796226 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 2796226 2796226 C T SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known missense c.10579 p.E3527K 1.000 NULL pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC CSTF3 1479 genome.wustl.edu 37 11 33112139 33112139 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 33112139 33112139 C G SNP CSTF3 ENST00000323959 human ensembl 70_37 -1 known missense c.1580 p.R527T 1.000 pfam_Suf pfam_Suf,smart_HAT - no_errors CSTF3 HGNC CSTF3 1479 genome.wustl.edu 37 11 33113860 33113860 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 33113860 33113860 C G SNP CSTF3 ENST00000323959 human ensembl 70_37 -1 known missense c.1402 p.E468Q 1.000 pfam_Suf,smart_HAT pfam_Suf,smart_HAT - no_errors CSTF3 HGNC CSTF3 1479 genome.wustl.edu 37 11 33113887 33113887 + Splice_Site SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 33113887 33113887 C T SNP CSTF3 ENST00000323959 human ensembl 70_37 -1 known splice_site c.1376-1 e16-1 1.000 - - - no_errors CSTF3 HGNC CTC1 80169 genome.wustl.edu 37 17 8141856 8141856 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 8141856 8141856 G T SNP CTC1 ENST00000315684 human ensembl 70_37 -1 known missense c.289 p.Q97K 0.374 NULL NULL - no_errors CTC1 HGNC CTDSP2 10106 genome.wustl.edu 37 12 58240198 58240198 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 58240198 58240198 G A SNP CTDSP2 ENST00000398073 human ensembl 70_37 -1 known silent c.21 p.I7 1.000 NULL pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase - no_errors CTDSP2 HGNC CTDSPL2 51496 genome.wustl.edu 37 15 44719943 44719943 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 44719943 44719943 G A SNP CTDSPL2 ENST00000560834 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors CTDSPL2 HGNC CTNND1 1500 genome.wustl.edu 37 11 57569356 57569356 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 57569356 57569356 G C SNP CTNND1 ENST00000399050 human ensembl 70_37 +1 known missense c.1108 p.E370Q 0.998 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC CTNND2 1501 genome.wustl.edu 37 5 10972955 10972955 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 10972955 10972955 C G SNP CTNND2 ENST00000495388 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CTNND2 HGNC CTSL3P 392360 genome.wustl.edu 37 9 90387889 90387889 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 90387889 90387889 G A SNP CTSL3 ENST00000354530 human ensembl 70_37 +1 known rna NULL NULL 0.902 - - - no_errors CTSL3 HGNC CTSL3P 392360 genome.wustl.edu 37 9 90388092 90388092 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 90388092 90388092 C T SNP CTSL3 ENST00000354530 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CTSL3 HGNC CTU1 90353 genome.wustl.edu 37 19 51607737 51607737 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 51607737 51607737 G A SNP CTU1 ENST00000421832 human ensembl 70_37 -1 known silent c.90 p.F30 1.000 pirsf_2-thiocytidine_tRNA_synth_TtcA pfam_tRNA-lysidine/thiocyt_synth,pirsf_2-thiocytidine_tRNA_synth_TtcA - no_errors CTU1 HGNC CUL4A 8451 genome.wustl.edu 37 13 113915001 113915001 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 113915001 113915001 G A SNP CUL4A ENST00000375440 human ensembl 70_37 +1 known missense c.2112 p.M704I 1.000 pfam_Cullin_neddylation_domain,smart_Cullin_neddylation_domain pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4A HGNC CUX1 1523 genome.wustl.edu 37 7 101754977 101754977 + Splice_Site SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 101754977 101754977 G A SNP CUX1 ENST00000360264 human ensembl 70_37 +1 known splice_site c.564-1 e7-1 1.000 - - - no_errors CUX1 HGNC CWF19L2 143884 genome.wustl.edu 37 11 107260832 107260832 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 107260832 107260832 G C SNP CWF19L2 ENST00000282251 human ensembl 70_37 -1 known missense c.1840 p.Q614E 1.000 NULL pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L2 HGNC CXorf67 340602 genome.wustl.edu 37 X 51150246 51150246 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 51150246 51150246 G A SNP CXorf67 ENST00000342995 human ensembl 70_37 +1 known silent c.378 p.Q126 0.000 NULL NULL - no_errors CXorf67 HGNC CYFIP1 23191 genome.wustl.edu 37 15 22928434 22928434 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 22928434 22928434 G A SNP CYFIP1 ENST00000313077 human ensembl 70_37 +1 known missense c.311 p.R104K 1.000 pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC CYLC2 1539 genome.wustl.edu 37 9 105766986 105766986 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 105766986 105766986 G A SNP CYLC2 ENST00000374798 human ensembl 70_37 +1 putative missense c.190 p.E64K 0.447 NULL NULL - no_errors CYLC2 HGNC CYP11A1 1583 genome.wustl.edu 37 15 74630935 74630935 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 74630935 74630935 C G SNP CYP11A1 ENST00000268053 human ensembl 70_37 -1 known missense c.1411 p.E471Q 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_mitochondrial,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP11A1 HGNC CYP2J2 1573 genome.wustl.edu 37 1 60377293 60377293 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 60377293 60377293 G A SNP CYP2J2 ENST00000371204 human ensembl 70_37 -1 known missense c.671 p.S224L 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2J-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like - no_errors CYP2J2 HGNC CYP2R1 120227 genome.wustl.edu 37 11 14901774 14901774 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 14901774 14901774 G A SNP CYP2R1 ENST00000334636 human ensembl 70_37 -1 known missense c.908 p.S303L 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2R1 HGNC CYP3A43 64816 genome.wustl.edu 37 7 99436308 99436308 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 99436308 99436308 G A SNP CYP3A43 ENST00000417625 human ensembl 70_37 +1 novel silent c.174 p.L58 0.042 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP3A43 HGNC CYP4F43P 646802 genome.wustl.edu 37 2 131188931 131188931 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 131188931 131188931 C T SNP CYP4F43P ENST00000455215 human ensembl 70_37 -1 known rna NULL NULL 0.760 - - - no_errors CYP4F43P HGNC DAAM2 23500 genome.wustl.edu 37 6 39843173 39843173 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 39843173 39843173 C T SNP DAAM2 ENST00000274867 human ensembl 70_37 +1 known silent c.1230 p.L410 0.948 pfam_Drf_FH3,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM2 HGNC DAPK3 1613 genome.wustl.edu 37 19 3959476 3959476 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 3959476 3959476 C G SNP DAPK3 ENST00000301264 human ensembl 70_37 -1 known missense c.988 p.E330Q 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DAPK3 HGNC DARS2 55157 genome.wustl.edu 37 1 173808631 173808631 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 173808631 173808631 G A SNP DARS2 ENST00000361951 human ensembl 70_37 +1 known missense c.967 p.E323K 1.000 pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,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 DBT 1629 genome.wustl.edu 37 1 100696454 100696454 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 100696454 100696454 C G SNP DBT ENST00000370132 human ensembl 70_37 -1 known missense c.268 p.D90H 1.000 pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl - no_errors DBT HGNC DCAF4L1 285429 genome.wustl.edu 37 4 41983833 41983833 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 41983833 41983833 C T SNP DCAF4L1 ENST00000333141 human ensembl 70_37 +1 known silent c.24 p.L8 0.921 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L1 HGNC DCC 1630 genome.wustl.edu 37 18 50985767 50985767 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 50985767 50985767 C G SNP DCC ENST00000442544 human ensembl 70_37 +1 known silent c.3558 p.L1186 1.000 pfam_Neogenin_C 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 DCDC5 100506627 genome.wustl.edu 37 11 31112999 31112999 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 31112999 31112999 G C SNP DCDC5 ENST00000597505 human ensembl 70_37 -1 putative missense c.2178 p.I726M 0.994 superfamily_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Ricin_B_lectin,superfamily_Doublecortin_dom,superfamily_Ricin_B_lectin,smart_Doublecortin_dom,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC5 HGNC DCHS1 8642 genome.wustl.edu 37 11 6643101 6643101 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 6643101 6643101 G C SNP DCHS1 ENST00000299441 human ensembl 70_37 -1 known nonsense c.9806 p.S3269* 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC DCHS2 54798 genome.wustl.edu 37 4 155157160 155157160 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 155157160 155157160 G C SNP DCHS2 ENST00000357232 human ensembl 70_37 -1 known missense c.7279 p.Q2427E 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC DCHS2 54798 genome.wustl.edu 37 4 155305547 155305547 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 155305547 155305547 C G SNP DCHS2 ENST00000357232 human ensembl 70_37 -1 known missense c.207 p.E69D 0.001 pfam_Cadherin,superfamily_Cadherin-like pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC DCHS2 54798 genome.wustl.edu 37 4 155410577 155410577 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 155410577 155410577 G A SNP DCHS2 ENST00000339452 human ensembl 70_37 -1 known missense c.1931 p.S644F 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC DCLK2 166614 genome.wustl.edu 37 4 151174642 151174642 + Nonstop_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 151174642 151174642 G C SNP DCLK2 ENST00000411937 human ensembl 70_37 +1 known nonstop c.2087 p.*696S 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom - no_errors DCLK2 HGNC DCP1B 196513 genome.wustl.edu 37 12 2062277 2062277 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 2062277 2062277 C T SNP DCP1B ENST00000280665 human ensembl 70_37 -1 known missense c.829 p.E277K 1.000 NULL pfam_DCP1 - no_errors DCP1B HGNC DDB2 1643 genome.wustl.edu 37 11 47256436 47256436 + Silent SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 47256436 47256436 G T SNP DDB2 ENST00000256996 human ensembl 70_37 +1 known silent c.831 p.G277 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DDB2 HGNC DDX17 10521 genome.wustl.edu 37 22 38882271 38882271 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 38882271 38882271 C T SNP DDX17 ENST00000396821 human ensembl 70_37 -1 known missense c.1865 p.G622E 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX17 HGNC DDX17 10521 genome.wustl.edu 37 22 38882311 38882311 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 38882311 38882311 C T SNP DDX17 ENST00000396821 human ensembl 70_37 -1 known missense c.1825 p.E609K 0.999 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX17 HGNC DDX23 9416 genome.wustl.edu 37 12 49233831 49233831 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 49233831 49233831 C T SNP DDX23 ENST00000308025 human ensembl 70_37 -1 known missense c.379 p.D127N 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX23 HGNC DDX3X 1654 genome.wustl.edu 37 X 41204678 41204678 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 41204678 41204678 G C SNP DDX3X ENST00000399959 human ensembl 70_37 +1 known missense c.1192 p.D398H 1.000 smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX3X HGNC DDX43 55510 genome.wustl.edu 37 6 74125280 74125280 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 74125280 74125280 G C SNP DDX43 ENST00000370336 human ensembl 70_37 +1 known missense c.1806 p.L602F 0.988 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX43 HGNC DEGS1 8560 genome.wustl.edu 37 1 224377971 224377971 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 224377971 224377971 C T SNP DEGS1 ENST00000323699 human ensembl 70_37 +1 known missense c.775 p.H259Y 1.000 pfam_Fatty_acid_desaturase-1,pirsf_Sphingolipid_d4-desaturase pfam_Fatty_acid_desaturase-1,pfam_Sphingolipid_d4-desaturase_N,pirsf_Sphingolipid_d4-desaturase - no_errors DEGS1 HGNC DENND2C 163259 genome.wustl.edu 37 1 115153695 115153695 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 115153695 115153695 C G SNP DENND2C ENST00000393274 human ensembl 70_37 -1 known missense c.1368 p.K456N 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC DGKK 139189 genome.wustl.edu 37 X 50127785 50127785 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 50127785 50127785 C G SNP DGKK ENST00000376025 human ensembl 70_37 -1 known rna NULL NULL 0.987 - - - no_errors DGKK HGNC DHX30 22907 genome.wustl.edu 37 3 47887268 47887268 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 47887268 47887268 G A SNP DHX30 ENST00000445061 human ensembl 70_37 +1 known missense c.1018 p.E340K 1.000 NULL pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX30 HGNC DIP2B 57609 genome.wustl.edu 37 12 51128868 51128868 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 51128868 51128868 G A SNP DIP2B ENST00000301180 human ensembl 70_37 +1 known silent c.4056 p.V1352 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC DIRAS3 9077 genome.wustl.edu 37 1 68512845 68512845 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 68512845 68512845 C T SNP DIRAS3 ENST00000370981 human ensembl 70_37 -1 known missense c.136 p.A46T 0.686 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors DIRAS3 HGNC DIRC2 84925 genome.wustl.edu 37 3 122591347 122591347 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 122591347 122591347 C G SNP DIRC2 ENST00000261038 human ensembl 70_37 +1 known silent c.1224 p.V408 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors DIRC2 HGNC DIS3L 115752 genome.wustl.edu 37 15 66604206 66604206 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 66604206 66604206 G C SNP DIS3L ENST00000319212 human ensembl 70_37 +1 known missense c.703 p.E235Q 1.000 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors DIS3L HGNC DISP2 85455 genome.wustl.edu 37 15 40659864 40659864 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 40659864 40659864 G A SNP DISP2 ENST00000267889 human ensembl 70_37 +1 known silent c.1551 p.L517 0.998 pfscan_SSD pfscan_SSD - no_errors DISP2 HGNC DIXDC1 85458 genome.wustl.edu 37 11 111890287 111890287 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 111890287 111890287 C G SNP DIXDC1 ENST00000389821 human ensembl 70_37 +1 known rna NULL NULL 0.877 - - - no_errors DIXDC1 HGNC DLEC1 9940 genome.wustl.edu 37 3 38103846 38103846 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 38103846 38103846 G C SNP DLEC1 ENST00000346219 human ensembl 70_37 +1 known missense c.860 p.R287T 0.000 NULL superfamily_PapD-like - no_errors DLEC1 HGNC DLG5 9231 genome.wustl.edu 37 10 79552246 79552246 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 79552246 79552246 G A SNP DLG5 ENST00000372391 human ensembl 70_37 -1 known silent c.5712 p.V1904 0.985 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG5 HGNC DMBT1 1755 genome.wustl.edu 37 10 124390648 124390648 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 124390648 124390648 G C SNP DMBT1 ENST00000368915 human ensembl 70_37 +1 known missense c.6197 p.G2066A 0.001 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt - no_errors DMBT1 HGNC DMC1 11144 genome.wustl.edu 37 22 38951397 38951397 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 38951397 38951397 C T SNP DMC1 ENST00000216024 human ensembl 70_37 -1 known missense c.344 p.G115E 1.000 pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,pfam_Circ_KaiC/RadA,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,tigrfam_DMC1_rcmbase pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,pfam_Circ_KaiC/RadA,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,pfscan_RecA_monomer-monomer_interface,tigrfam_DMC1_rcmbase - no_errors DMC1 HGNC DMWD 1762 genome.wustl.edu 37 19 46289752 46289752 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 46289752 46289752 C G SNP DMWD ENST00000270223 human ensembl 70_37 -1 known missense c.1002 p.W334C 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 - no_errors DMWD HGNC DMXL1 1657 genome.wustl.edu 37 5 118584139 118584139 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 118584139 118584139 G C SNP DMXL1 ENST00000505312 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors DMXL1 HGNC DNAH10 196385 genome.wustl.edu 37 12 124371818 124371818 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 124371818 124371818 G A SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known missense c.8599 p.E2867K 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC DNAH14 127602 genome.wustl.edu 37 1 225445752 225445752 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 225445752 225445752 G A SNP DNAH14 ENST00000430092 human ensembl 70_37 +1 known missense c.6938 p.R2313K 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase - no_errors DNAH14 HGNC DNAH5 1767 genome.wustl.edu 37 5 13771068 13771068 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 13771068 13771068 G A SNP DNAH5 ENST00000265104 human ensembl 70_37 -1 known missense c.9395 p.S3132F 0.998 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC DNAH5 1767 genome.wustl.edu 37 5 13922308 13922308 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 13922308 13922308 G A SNP DNAH5 ENST00000265104 human ensembl 70_37 -1 known nonsense c.568 p.Q190* 0.112 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC DNAH7 56171 genome.wustl.edu 37 2 196642523 196642523 + Splice_Site SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 196642523 196642523 C G SNP DNAH7 ENST00000312428 human ensembl 70_37 -1 known splice_site c.11064+1 e59+1 1.000 - - - no_errors DNAH7 HGNC DNAH8 1769 genome.wustl.edu 37 6 38709540 38709540 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 38709540 38709540 C G SNP DNAH8 ENST00000359357 human ensembl 70_37 +1 known silent c.519 p.L173 0.992 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC DNAH8 1769 genome.wustl.edu 37 6 38850715 38850715 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 38850715 38850715 C T SNP DNAH8 ENST00000359357 human ensembl 70_37 +1 known nonsense c.7237 p.Q2413* 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC DNAJC6 9829 genome.wustl.edu 37 1 65858183 65858183 + Nonsense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 65858183 65858183 C G SNP DNAJC6 ENST00000371069 human ensembl 70_37 +1 known nonsense c.1538 p.S513* 0.999 NULL pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DnaJ_N,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N - no_errors DNAJC6 HGNC DNHD1 144132 genome.wustl.edu 37 11 6568297 6568297 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 6568297 6568297 G A SNP DNHD1 ENST00000254579 human ensembl 70_37 +1 known missense c.6128 p.G2043E 0.998 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_t-SNARE - no_errors DNHD1 HGNC DNMBP 23268 genome.wustl.edu 37 10 101645515 101645515 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 101645515 101645515 G C SNP DNMBP ENST00000342239 human ensembl 70_37 -1 known missense c.3799 p.P1267A 0.994 NULL pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors DNMBP HGNC DNMT3A 1788 genome.wustl.edu 37 2 25469588 25469588 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 25469588 25469588 C T SNP DNMT3A ENST00000264709 human ensembl 70_37 -1 known missense c.1180 p.D394N 1.000 NULL pfam_PWWP,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP,pfscan_PWWP - no_errors DNMT3A HGNC DOCK1 1793 genome.wustl.edu 37 10 128908536 128908536 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 128908536 128908536 C G SNP DOCK1 ENST00000280333 human ensembl 70_37 +1 known silent c.2478 p.L826 0.147 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC DOCK11 139818 genome.wustl.edu 37 X 117817118 117817118 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 117817118 117817118 G C SNP DOCK11 ENST00000276202 human ensembl 70_37 +1 known missense c.6040 p.E2014Q 1.000 pfam_DOCK_C pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC DOCK6 57572 genome.wustl.edu 37 19 11322793 11322793 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 11322793 11322793 G C SNP DOCK6 ENST00000294618 human ensembl 70_37 -1 known missense c.4526 p.S1509C 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC DOCK7 85440 genome.wustl.edu 37 1 63001290 63001290 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 63001290 63001290 G T SNP DOCK7 ENST00000251157 human ensembl 70_37 -1 known missense c.3485 p.S1162Y 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC DOCK8 81704 genome.wustl.edu 37 9 414809 414809 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 414809 414809 C T SNP DOCK8 ENST00000453981 human ensembl 70_37 +1 known silent c.3558 p.V1186 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC DOCK9 23348 genome.wustl.edu 37 13 99537987 99537987 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 99537987 99537987 C T SNP DOCK9 ENST00000339416 human ensembl 70_37 -1 known silent c.2238 p.K746 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC DOPEY1 23033 genome.wustl.edu 37 6 83847173 83847173 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 83847173 83847173 C G SNP DOPEY1 ENST00000349129 human ensembl 70_37 +1 known missense c.3412 p.Q1138E 0.986 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC DPP8 54878 genome.wustl.edu 37 15 65743243 65743243 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 65743243 65743243 C G SNP DPP8 ENST00000560048 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors DPP8 HGNC DPY19L3 147991 genome.wustl.edu 37 19 32949288 32949288 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 32949288 32949288 G C SNP DPY19L3 ENST00000342179 human ensembl 70_37 +1 known missense c.1195 p.E399Q 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L3 HGNC DRD1 1812 genome.wustl.edu 37 5 174870004 174870004 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 174870004 174870004 G C SNP DRD1 ENST00000329144 human ensembl 70_37 -1 known silent c.99 p.L33 0.994 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopa_1A_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt,prints_Adrnrgc_rcpt - no_errors DRD1 HGNC RIPPLY3 53820 genome.wustl.edu 37 21 38380494 38380494 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 38380494 38380494 G C SNP DSCR6 ENST00000329553 human ensembl 70_37 +1 known missense c.142 p.D48H 0.038 NULL NULL - no_errors DSCR6 HGNC DSG4 147409 genome.wustl.edu 37 18 28991345 28991345 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 28991345 28991345 G A SNP DSG4 ENST00000359747 human ensembl 70_37 +1 known missense c.2346 p.M782I 0.005 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG4 HGNC DSP 1832 genome.wustl.edu 37 6 7580249 7580249 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 7580249 7580249 C G SNP DSP ENST00000379802 human ensembl 70_37 +1 known missense c.3826 p.Q1276E 0.999 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC DSPP 1834 genome.wustl.edu 37 4 88534379 88534379 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 88534379 88534379 C G SNP DSPP ENST00000282478 human ensembl 70_37 +1 known silent c.1041 p.L347 0.000 NULL NULL - no_errors DSPP HGNC DST 667 genome.wustl.edu 37 6 56469153 56469153 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 56469153 56469153 C G SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.10174 p.E3392Q 0.002 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC DST 667 genome.wustl.edu 37 6 56469891 56469891 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 56469891 56469891 C G SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.9436 p.D3146H 0.008 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC DST 667 genome.wustl.edu 37 6 56469903 56469903 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 56469903 56469903 C T SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.9424 p.E3142K 0.004 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC DUOX2 50506 genome.wustl.edu 37 15 45393432 45393432 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 45393432 45393432 G C SNP DUOX2 ENST00000389039 human ensembl 70_37 -1 known silent c.2892 p.V964 0.998 NULL pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC DUS3L 56931 genome.wustl.edu 37 19 5785241 5785241 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 5785241 5785241 C T SNP DUS3L ENST00000309061 human ensembl 70_37 -1 known silent c.1926 p.P642 0.886 NULL pfam_tRNA_hU_synthase - no_errors DUS3L HGNC DUSP27 92235 genome.wustl.edu 37 1 167095628 167095628 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 167095628 167095628 G C SNP DUSP27 ENST00000271385 human ensembl 70_37 +1 known missense c.1260 p.E420D 0.007 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC DYNC1H1 1778 genome.wustl.edu 37 14 102467326 102467326 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 102467326 102467326 G C SNP DYNC1H1 ENST00000360184 human ensembl 70_37 +1 known silent c.4110 p.L1370 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC EBF3 253738 genome.wustl.edu 37 10 131639260 131639260 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 131639260 131639260 C T SNP EBF3 ENST00000355311 human ensembl 70_37 -1 known missense c.1409 p.R470Q 1.000 NULL pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt - no_errors EBF3 HGNC EEA1 8411 genome.wustl.edu 37 12 93226593 93226593 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 93226593 93226593 C T SNP EEA1 ENST00000322349 human ensembl 70_37 -1 known missense c.949 p.D317N 0.992 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors EEA1 HGNC EFNB1 1947 genome.wustl.edu 37 X 68059873 68059873 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 68059873 68059873 G A SNP EFNB1 ENST00000204961 human ensembl 70_37 +1 known silent c.570 p.K190 0.270 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB1 HGNC EHHADH 1962 genome.wustl.edu 37 3 184935936 184935936 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 184935936 184935936 G A SNP EHHADH ENST00000231887 human ensembl 70_37 -1 known nonsense c.556 p.Q186* 0.168 NULL pfam_Crotonase_core,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like - no_errors EHHADH HGNC EIF2AK1 27102 genome.wustl.edu 37 7 6068307 6068307 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 6068307 6068307 C G SNP EIF2AK1 ENST00000199389 human ensembl 70_37 -1 known missense c.1469 p.R490T 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EIF2AK1 HGNC AGO3 192669 genome.wustl.edu 37 1 36470034 36470034 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 36470034 36470034 C G SNP EIF2C3 ENST00000373191 human ensembl 70_37 +1 known missense c.751 p.L251V 1.000 pfam_PAZ,superfamily_PAZ,smart_PAZ,pfscan_PAZ pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C3 HGNC AGO3 192669 genome.wustl.edu 37 1 36479634 36479634 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 36479634 36479634 G C SNP EIF2C3 ENST00000373191 human ensembl 70_37 +1 known missense c.1391 p.R464T 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 EIF2C3 HGNC EIF3D 8664 genome.wustl.edu 37 22 36915544 36915544 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 36915544 36915544 C T SNP EIF3D ENST00000216190 human ensembl 70_37 -1 known missense c.619 p.D207N 0.289 pfam_EIF-3_zeta,pirsf_EIF-3_zeta pfam_EIF-3_zeta,pirsf_EIF-3_zeta - no_errors EIF3D HGNC EIF4A2 1974 genome.wustl.edu 37 3 186502437 186502437 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 186502437 186502437 G C SNP EIF4A2 ENST00000440191 human ensembl 70_37 +1 known missense c.163 p.E55Q 1.000 smart_Helicase_ATP-bd,pfscan_RNA_helicase_DEAD_Q_motif pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors EIF4A2 HGNC EIF4A2 1974 genome.wustl.edu 37 3 186503748 186503748 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 186503748 186503748 G C SNP EIF4A2 ENST00000440191 human ensembl 70_37 +1 known missense c.428 p.R143P 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors EIF4A2 HGNC EIF4G1 1981 genome.wustl.edu 37 3 184045425 184045425 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 184045425 184045425 C G SNP EIF4G1 ENST00000352767 human ensembl 70_37 +1 known missense c.3734 p.S1245C 0.981 superfamily_ARM-type_fold pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC EIF5A 1984 genome.wustl.edu 37 17 7213022 7213022 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 7213022 7213022 C T SNP EIF5A ENST00000336452 human ensembl 70_37 +1 known missense c.158 p.S53L 1.000 superfamily_Translation_prot_SH3-like,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A pfam_Transl_elong_IF5A_C,pfam_KOW,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold-like,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A - no_errors EIF5A HGNC ELAVL1 1994 genome.wustl.edu 37 19 8028545 8028545 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 8028545 8028545 C G SNP ELAVL1 ENST00000351593 human ensembl 70_37 -1 known missense c.884 p.G295A 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL1 HGNC ELF3 1999 genome.wustl.edu 37 1 201981119 201981119 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 201981119 201981119 C G SNP ELF3 ENST00000359651 human ensembl 70_37 +1 known missense c.198 p.F66L 0.268 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets - no_errors ELF3 HGNC EMC10 284361 genome.wustl.edu 37 19 50983986 50983986 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 50983986 50983986 C T SNP EMC10 ENST00000334976 human ensembl 70_37 +1 known missense c.551 p.S184L 0.830 NULL NULL - no_errors EMC10 HGNC EML6 400954 genome.wustl.edu 37 2 55077342 55077342 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 55077342 55077342 C G SNP EML6 ENST00000356458 human ensembl 70_37 +1 novel missense c.1431 p.F477L 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML6 HGNC ENSG00000203951 0 genome.wustl.edu 37 20 60808149 60808149 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 60808149 60808149 G C SNP ENSG00000203951 ENST00000370795 human ensembl 70_37 +1 known missense c.259 p.E87Q 0.141 NULL NULL - no_errors FLJ44790 Uniprot_genename ENSG00000204620 0 genome.wustl.edu 37 X 48433156 48433156 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 48433156 48433156 G C SNP ENSG00000204620 ENST00000376775 human ensembl 70_37 -1 known silent c.93 p.L31 0.000 NULL NULL - no_errors AC115618.1 Clone_based_ensembl_gene ENSG00000205233 0 genome.wustl.edu 37 7 102313440 102313440 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 102313440 102313440 C G SNP ENSG00000205233 ENST00000542270 human ensembl 70_37 -1 known missense c.369 p.E123D 0.000 NULL NULL - no_errors AC105052.1 Clone_based_ensembl_gene ENSG00000205293 0 genome.wustl.edu 37 8 58893555 58893555 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 58893555 58893555 C G SNP ENSG00000205293 ENST00000522992 human ensembl 70_37 +1 known rna NULL NULL 0.782 - - - no_errors RP11-1112C15.1 Clone_based_vega_gene ENSG00000206113 0 genome.wustl.edu 37 4 2428664 2428664 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 2428664 2428664 C T SNP ENSG00000206113 ENST00000382849 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors RP11-503N18.1 Clone_based_vega_gene ENSG00000206113 0 genome.wustl.edu 37 4 2429035 2429035 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 2429035 2429035 C G SNP ENSG00000206113 ENST00000382849 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-503N18.1 Clone_based_vega_gene ENSG00000206532 0 genome.wustl.edu 37 3 110611266 110611266 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 110611266 110611266 G C SNP ENSG00000206532 ENST00000383686 human ensembl 70_37 -1 known missense c.410 p.S137C 0.911 NULL NULL - no_errors RP11-553A10.1 Clone_based_vega_gene ENSG00000207130 0 genome.wustl.edu 37 3 128433492 128433492 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 128433492 128433492 C G SNP ENSG00000207130 ENST00000384401 human ensembl 70_37 -1 novel rna NULL NULL 1.000 - - - no_errors SNORA24 RFAM ENSG00000211495 0 genome.wustl.edu 37 X 132880836 132880836 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 132880836 132880836 C G SNP ENSG00000211495 ENST00000390161 human ensembl 70_37 -1 novel rna NULL NULL 1.000 - - - no_errors AL009174.1 Clone_based_ensembl_gene ENSG00000217258 0 genome.wustl.edu 37 2 10594074 10594074 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 10594074 10594074 C T SNP ENSG00000217258 ENST00000404616 human ensembl 70_37 +1 known rna NULL NULL 0.942 - - - no_errors AC007249.3 Clone_based_vega_gene ENSG00000218819 0 genome.wustl.edu 37 2 21361709 21361709 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 21361709 21361709 C T SNP ENSG00000218819 ENST00000405799 human ensembl 70_37 +1 novel missense c.1370 p.S457L 0.000 NULL pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor - no_errors AC010872.2 Clone_based_vega_gene ENSG00000221316 0 genome.wustl.edu 37 13 107773464 107773464 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 107773464 107773464 C G SNP ENSG00000221316 ENST00000408389 human ensembl 70_37 +1 novel rna NULL NULL 0.001 - - - no_errors AL445204.1 Clone_based_ensembl_gene ENSG00000222042 0 genome.wustl.edu 37 21 26543086 26543086 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 26543086 26543086 G A SNP ENSG00000222042 ENST00000409758 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AP000233.4 Clone_based_vega_gene ENSG00000223519 0 genome.wustl.edu 37 1 246940594 246940594 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 246940594 246940594 C T SNP ENSG00000223519 ENST00000451123 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-439E19.8 Clone_based_vega_gene ENSG00000227484 0 genome.wustl.edu 37 22 50753223 50753223 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 50753223 50753223 G A SNP ENSG00000227484 ENST00000453835 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors XX-C283C717.1 Clone_based_vega_gene ENSG00000227677 0 genome.wustl.edu 37 9 136028893 136028893 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 136028893 136028893 C G SNP ENSG00000227677 ENST00000447308 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-326L24.7 Clone_based_vega_gene ENSG00000228434 0 genome.wustl.edu 37 7 44043653 44043653 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 44043653 44043653 G C SNP ENSG00000228434 ENST00000447643 human ensembl 70_37 -1 known rna NULL NULL 0.045 - - - no_errors AC004951.6 Clone_based_vega_gene ENSG00000233483 0 genome.wustl.edu 37 17 43326179 43326179 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 43326179 43326179 C T SNP ENSG00000233483 ENST00000591361 human ensembl 70_37 -1 known rna NULL NULL 0.903 - - - no_errors CTD-2020K17.4 Clone_based_vega_gene ENSG00000233485 0 genome.wustl.edu 37 1 15654738 15654738 + RNA DEL T T - TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 15654738 15654738 T - DEL ENSG00000233485 ENST00000428747 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP3-467K16.2 Clone_based_vega_gene ENSG00000233539 0 genome.wustl.edu 37 7 46736610 46736610 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 46736610 46736610 C T SNP ENSG00000233539 ENST00000451905 human ensembl 70_37 -1 putative missense c.3 p.M1I 0.186 NULL NULL - no_errors AC011294.3 Clone_based_vega_gene ENSG00000234222 0 genome.wustl.edu 37 1 145507780 145507780 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 145507780 145507780 G C SNP ENSG00000234222 ENST00000412239 human ensembl 70_37 -1 known rna NULL NULL 0.152 - - - no_errors RP11-315I20.1 Clone_based_vega_gene ENSG00000236663 0 genome.wustl.edu 37 21 44560841 44560841 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 44560841 44560841 G A SNP ENSG00000236663 ENST00000424933 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AP001631.9 Clone_based_vega_gene ENSG00000239569 0 genome.wustl.edu 37 7 104653894 104653894 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 104653894 104653894 G C SNP ENSG00000239569 ENST00000453677 human ensembl 70_37 -1 known rna NULL NULL 0.992 - - - no_errors RP11-325F22.4 Clone_based_vega_gene ENSG00000241770 0 genome.wustl.edu 37 3 156881249 156881249 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 156881249 156881249 C G SNP ENSG00000241770 ENST00000480817 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-555M1.3 Clone_based_vega_gene ENSG00000254042 0 genome.wustl.edu 37 5 168135179 168135179 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 168135179 168135179 C T SNP ENSG00000254042 ENST00000522615 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTC-558O2.1 Clone_based_vega_gene ENSG00000255518 0 genome.wustl.edu 37 8 11415441 11415441 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 11415441 11415441 G A SNP ENSG00000255518 ENST00000528629 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-148O21.4 Clone_based_vega_gene ENSG00000256349 0 genome.wustl.edu 37 11 66293630 66293630 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 66293630 66293630 C T SNP ENSG00000256349 ENST00000419755 human ensembl 70_37 +1 known missense c.1258 p.R420W 1.000 superfamily_Quinonprotein_ADH-like superfamily_Quinonprotein_ADH-like - no_errors BBS1 Uniprot_genename ENSG00000257513 0 genome.wustl.edu 37 18 11639425 11639425 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 11639425 11639425 G A SNP ENSG00000257513 ENST00000547442 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors RP11-677O4.1 Clone_based_vega_gene ENSG00000258334 0 genome.wustl.edu 37 12 49690074 49690074 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 49690074 49690074 C G SNP ENSG00000258334 ENST00000553259 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-161H23.9 Clone_based_vega_gene ENSG00000258377 0 genome.wustl.edu 37 14 50089367 50089367 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 50089367 50089367 G A SNP ENSG00000258377 ENST00000555043 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors RP11-649E7.5 Clone_based_vega_gene ENSG00000259407 0 genome.wustl.edu 37 15 86288014 86288014 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 86288014 86288014 C T SNP ENSG00000259407 ENST00000558375 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-158M2.3 Clone_based_vega_gene ENSG00000263606 0 genome.wustl.edu 37 18 2946398 2946398 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 2946398 2946398 C T SNP ENSG00000263606 ENST00000581139 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-737O24.3 Clone_based_vega_gene ENSG00000263624 0 genome.wustl.edu 37 17 17072016 17072016 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 17072016 17072016 C G SNP ENSG00000263624 ENST00000584203 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors RP11-45M22.3 Clone_based_vega_gene ENSG00000263826 0 genome.wustl.edu 37 3 186501297 186501297 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 186501297 186501297 G C SNP ENSG00000263826 ENST00000577781 human ensembl 70_37 -1 known rna NULL NULL 0.025 - - - no_errors RP11-573D15.9 Clone_based_vega_gene ENSG00000264714 0 genome.wustl.edu 37 18 10727372 10727372 + RNA SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 10727372 10727372 C A SNP ENSG00000264714 ENST00000581724 human ensembl 70_37 +1 known rna NULL NULL 0.087 - - - no_errors RP11-21G15.1 Clone_based_vega_gene ENSG00000266708 0 genome.wustl.edu 37 18 8636223 8636223 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 8636223 8636223 G A SNP ENSG00000266708 ENST00000580267 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-661O13.1 Clone_based_vega_gene ENSG00000266865 0 genome.wustl.edu 37 17 29349149 29349149 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 29349149 29349149 G A SNP ENSG00000266865 ENST00000579692 human ensembl 70_37 +1 known rna NULL NULL 0.124 - - - no_errors RP11-848P1.9 Clone_based_vega_gene ENSG00000267270 0 genome.wustl.edu 37 18 77920423 77920423 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 77920423 77920423 G T SNP ENSG00000267270 ENST00000586421 human ensembl 70_37 +1 putative missense c.121 p.A41S 0.000 NULL NULL - no_errors AC139100.2 Clone_based_vega_gene ENSG00000268906 0 genome.wustl.edu 37 19 51537229 51537229 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 51537229 51537229 G C SNP ENSG00000268906 ENST00000594910 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTC-518B2.9 Clone_based_vega_gene EPAS1 2034 genome.wustl.edu 37 2 46524939 46524939 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 46524939 46524939 C G SNP EPAS1 ENST00000467888 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors EPAS1 HGNC EPAS1 2034 genome.wustl.edu 37 2 46574200 46574200 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 46574200 46574200 C T SNP EPAS1 ENST00000263734 human ensembl 70_37 +1 known missense c.215 p.S72L 1.000 superfamily_HLH_dom,smart_HLH_dom pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors EPAS1 HGNC EPHA2 1969 genome.wustl.edu 37 1 16455987 16455987 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16455987 16455987 C T SNP EPHA2 ENST00000358432 human ensembl 70_37 -1 known missense c.2767 p.E923K 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM 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_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,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 EPHA2 HGNC EPHA4 2043 genome.wustl.edu 37 2 222284720 222284720 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 222284720 222284720 G A SNP EPHA4 ENST00000469354 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors EPHA4 HGNC EPHB2 2048 genome.wustl.edu 37 1 23236890 23236890 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 23236890 23236890 G A SNP EPHB2 ENST00000400191 human ensembl 70_37 +1 known missense c.2518 p.E840K 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_cat_dom 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_Galactose-bd-like,superfamily_Kinase-like_dom,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,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC EPRS 2058 genome.wustl.edu 37 1 220206942 220206942 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 220206942 220206942 G A SNP EPRS ENST00000366923 human ensembl 70_37 -1 known missense c.290 p.S97F 0.593 superfamily_Glutathione-S-Trfase_C-like pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk - no_errors EPRS HGNC EPX 8288 genome.wustl.edu 37 17 56276955 56276955 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 56276955 56276955 G C SNP EPX ENST00000225371 human ensembl 70_37 +1 known missense c.1337 p.R446T 0.155 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors EPX HGNC ERAP1 51752 genome.wustl.edu 37 5 96139368 96139368 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 96139368 96139368 G A SNP ERAP1 ENST00000296754 human ensembl 70_37 -1 known nonsense c.262 p.Q88* 0.347 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ERAP1 HGNC ERBB3 2065 genome.wustl.edu 37 12 56486842 56486842 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 56486842 56486842 G C SNP ERBB3 ENST00000267101 human ensembl 70_37 +1 known missense c.1256 p.G419A 0.999 pfam_EGF_rcpt_L,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_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 ERBB3 HGNC ERCC6 2074 genome.wustl.edu 37 10 50678926 50678926 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 50678926 50678926 G C SNP ERCC6 ENST00000355832 human ensembl 70_37 -1 known nonsense c.3080 p.S1027* 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ERLEC1 27248 genome.wustl.edu 37 2 54028725 54028725 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 54028725 54028725 G A SNP ERLEC1 ENST00000185150 human ensembl 70_37 +1 known silent c.717 p.L239 1.000 superfamily_Man6P_isomerase_rcpt-bd_dom pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors ERLEC1 HGNC ESRRG 2104 genome.wustl.edu 37 1 216880805 216880805 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 216880805 216880805 C T SNP ESRRG ENST00000469913 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors ESRRG HGNC ESYT1 23344 genome.wustl.edu 37 12 56531321 56531321 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 56531321 56531321 G A SNP ESYT1 ENST00000267113 human ensembl 70_37 +1 known silent c.2007 p.L669 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_C2_dom,pfscan_C2_membr_targeting - no_errors ESYT1 HGNC ETS2 2114 genome.wustl.edu 37 21 40184981 40184981 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 40184981 40184981 C G SNP ETS2 ENST00000360214 human ensembl 70_37 +1 known missense c.127 p.L43V 0.026 pirsf_Transforming_factor_C-ets pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pirsf_Transforming_factor_C-ets,pfscan_Ets,prints_Ets - no_errors ETS2 HGNC ETV1 2115 genome.wustl.edu 37 7 13971147 13971147 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 13971147 13971147 C T SNP ETV1 ENST00000405218 human ensembl 70_37 -1 known missense c.782 p.R261K 1.000 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets - no_errors ETV1 HGNC EXD2 55218 genome.wustl.edu 37 14 69707600 69707600 + Splice_Site SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 69707600 69707600 G C SNP EXD2 ENST00000312994 human ensembl 70_37 +1 known splice_site c.1650-1 e8-1 1.000 - - - no_errors EXD2 HGNC EXOC3 11336 genome.wustl.edu 37 5 453673 453673 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 453673 453673 G T SNP EXOC3 ENST00000315013 human ensembl 70_37 +1 known missense c.553 p.D185Y 0.974 pfam_Sec6 pfam_Sec6 - no_errors EXOC3 HGNC EXOC3 11336 genome.wustl.edu 37 5 465238 465238 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 465238 465238 G A SNP EXOC3 ENST00000315013 human ensembl 70_37 +1 known missense c.1789 p.E597K 0.981 pfam_Sec6 pfam_Sec6 - no_errors EXOC3 HGNC EXOC6 54536 genome.wustl.edu 37 10 94818001 94818001 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 94818001 94818001 G C SNP EXOC6 ENST00000371547 human ensembl 70_37 +1 known missense c.2352 p.K784N 1.000 pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6 HGNC EXOC6B 23233 genome.wustl.edu 37 2 72727091 72727091 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 72727091 72727091 G A SNP EXOC6B ENST00000272427 human ensembl 70_37 -1 known missense c.1178 p.S393F 1.000 pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6B HGNC EZR 7430 genome.wustl.edu 37 6 159210339 159210339 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 159210339 159210339 C T SNP EZR ENST00000337147 human ensembl 70_37 -1 known missense c.77 p.G26E 0.999 pirsf_ERM,pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin,prints_Band_41_fam - no_errors EZR HGNC FABP3 2170 genome.wustl.edu 37 1 31840308 31840308 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 31840308 31840308 G A SNP FABP3 ENST00000373713 human ensembl 70_37 -1 known missense c.280 p.H94Y 1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP3 HGNC FABP4 2167 genome.wustl.edu 37 8 82391026 82391026 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 82391026 82391026 C G SNP FABP4 ENST00000518669 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FABP4 HGNC FAH 2184 genome.wustl.edu 37 15 80445464 80445464 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 80445464 80445464 C G SNP FAH ENST00000261755 human ensembl 70_37 +1 known missense c.68 p.S23W 1.000 pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase pfam_Fumarylacetoacetase_C,pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_C-rel,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase - no_errors FAH HGNC FAM117A 81558 genome.wustl.edu 37 17 47797793 47797793 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 47797793 47797793 G A SNP FAM117A ENST00000240364 human ensembl 70_37 -1 known silent c.468 p.S156 1.000 NULL NULL - no_errors FAM117A HGNC FAM120B 84498 genome.wustl.edu 37 6 170626789 170626789 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 170626789 170626789 G A SNP FAM120B ENST00000537664 human ensembl 70_37 +1 known missense c.380 p.R127Q 0.999 NULL NULL - no_errors FAM120B HGNC AMER1 139285 genome.wustl.edu 37 X 63410667 63410667 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 63410667 63410667 G T SNP FAM123B ENST00000330258 human ensembl 70_37 -1 known missense c.2500 p.L834I 0.991 NULL pfam_Uncharacterised_FAM123 - no_errors FAM123B HGNC AMER3 205147 genome.wustl.edu 37 2 131520159 131520159 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 131520159 131520159 G A SNP FAM123C ENST00000321420 human ensembl 70_37 +1 known missense c.514 p.E172K 0.783 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors FAM123C HGNC MVB12B 89853 genome.wustl.edu 37 9 129184194 129184194 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 129184194 129184194 G A SNP FAM125B ENST00000361171 human ensembl 70_37 +1 known missense c.724 p.E242K 1.000 pfam_FAM125 pfam_FAM125 - no_errors FAM125B HGNC FAM134A 79137 genome.wustl.edu 37 2 220047220 220047220 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 220047220 220047220 G C SNP FAM134A ENST00000430297 human ensembl 70_37 +1 known missense c.1501 p.E501Q 1.000 NULL pfam_Reticulon - no_errors FAM134A HGNC FAM13B 51306 genome.wustl.edu 37 5 137278833 137278833 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 137278833 137278833 C T SNP FAM13B ENST00000033079 human ensembl 70_37 -1 known missense c.2347 p.E783K 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13B HGNC FAM160B1 57700 genome.wustl.edu 37 10 116603586 116603586 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 116603586 116603586 G C SNP FAM160B1 ENST00000369248 human ensembl 70_37 +1 known missense c.903 p.Q301H 1.000 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160B1 HGNC FAM161B 145483 genome.wustl.edu 37 14 74409175 74409175 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 74409175 74409175 C G SNP FAM161B ENST00000286544 human ensembl 70_37 -1 known missense c.1358 p.R453T 0.012 pfam_UPF0564 pfam_UPF0564 - no_errors FAM161B HGNC FAM168B 130074 genome.wustl.edu 37 2 131840217 131840217 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 131840217 131840217 C T SNP FAM168B ENST00000389915 human ensembl 70_37 -1 known missense c.3 p.M1I 1.000 NULL NULL - no_errors FAM168B HGNC FAM171A2 284069 genome.wustl.edu 37 17 42432488 42432488 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 42432488 42432488 C G SNP FAM171A2 ENST00000293443 human ensembl 70_37 -1 known missense c.1094 p.R365P 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors FAM171A2 HGNC FAM177A1 283635 genome.wustl.edu 37 14 35548163 35548163 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 35548163 35548163 C G SNP FAM177A1 ENST00000280987 human ensembl 70_37 +1 known missense c.437 p.S146C 1.000 NULL NULL - no_errors FAM177A1 HGNC FAM179A 165186 genome.wustl.edu 37 2 29225407 29225407 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 29225407 29225407 C G SNP FAM179A ENST00000379558 human ensembl 70_37 +1 known missense c.433 p.L145V 0.691 NULL pfam_CLASP_N_dom,superfamily_ARM-type_fold - no_errors FAM179A HGNC FAM179A 165186 genome.wustl.edu 37 2 29247043 29247043 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 29247043 29247043 C G SNP FAM179A ENST00000379558 human ensembl 70_37 +1 known missense c.1656 p.I552M 0.998 pfam_CLASP_N_dom,superfamily_ARM-type_fold pfam_CLASP_N_dom,superfamily_ARM-type_fold - no_errors FAM179A HGNC FAM179B 23116 genome.wustl.edu 37 14 45432442 45432442 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 45432442 45432442 C G SNP FAM179B ENST00000361577 human ensembl 70_37 +1 known missense c.818 p.S273C 0.985 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC FAM182B 728882 genome.wustl.edu 37 20 25745581 25745581 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 25745581 25745581 C G SNP FAM182B ENST00000478164 human ensembl 70_37 -1 known rna NULL NULL 0.044 - - - no_errors FAM182B HGNC FAM185A 222234 genome.wustl.edu 37 7 102389811 102389811 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 102389811 102389811 G A SNP FAM185A ENST00000413034 human ensembl 70_37 +1 known missense c.157 p.E53K 0.000 NULL NULL - no_errors FAM185A HGNC FAM199X 139231 genome.wustl.edu 37 X 103434445 103434445 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 103434445 103434445 G C SNP FAM199X ENST00000493442 human ensembl 70_37 +1 known missense c.1153 p.D385H 1.000 NULL NULL - no_errors FAM199X HGNC FAM200B 285550 genome.wustl.edu 37 4 15688706 15688706 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 15688706 15688706 G A SNP FAM200B ENST00000422728 human ensembl 70_37 +1 putative missense c.106 p.E36K 0.207 NULL superfamily_RNaseH-like_dom,superfamily_PAH - no_errors FAM200B HGNC FAM208B 54906 genome.wustl.edu 37 10 5790636 5790636 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 5790636 5790636 C T SNP FAM208B ENST00000328090 human ensembl 70_37 +1 known missense c.5252 p.S1751F 0.001 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC FAM20A 54757 genome.wustl.edu 37 17 66551867 66551867 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 66551867 66551867 C G SNP FAM20A ENST00000592554 human ensembl 70_37 -1 known missense c.422 p.R141T 0.102 NULL pfam_DUF1193 - no_errors FAM20A HGNC FAM214A 56204 genome.wustl.edu 37 15 52892428 52892428 + Silent SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 52892428 52892428 G T SNP FAM214A ENST00000261844 human ensembl 70_37 -1 known silent c.2545 p.R849 0.987 NULL NULL - no_errors FAM214A HGNC FAM214A 56204 genome.wustl.edu 37 15 52902402 52902402 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 52902402 52902402 C G SNP FAM214A ENST00000261844 human ensembl 70_37 -1 known missense c.709 p.E237Q 1.000 NULL NULL - no_errors FAM214A HGNC FAM26D 221301 genome.wustl.edu 37 6 116875034 116875034 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 116875034 116875034 G C SNP FAM26D ENST00000368596 human ensembl 70_37 +1 known missense c.78 p.L26F 1.000 NULL NULL - no_errors FAM26D HGNC SUPT20H 55578 genome.wustl.edu 37 13 37603941 37603941 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 37603941 37603941 G C SNP FAM48A ENST00000350612 human ensembl 70_37 -1 known missense c.954 p.I318M 1.000 NULL pfam_Spt20 - no_errors FAM48A HGNC FAM49A 81553 genome.wustl.edu 37 2 16742802 16742802 + Splice_Site SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 16742802 16742802 C G SNP FAM49A ENST00000355549 human ensembl 70_37 -1 known splice_site c.436-1 e5-1 1.000 - - - no_errors FAM49A HGNC FAM5C 339479 genome.wustl.edu 37 1 190130001 190130001 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 190130001 190130001 C T SNP FAM5C ENST00000367462 human ensembl 70_37 -1 known missense c.981 p.M327I 1.000 NULL pfam_MACPF,smart_MACPF - no_errors FAM5C HGNC TMEM255B 348013 genome.wustl.edu 37 13 114502863 114502863 + RNA SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 114502863 114502863 C A SNP FAM70B ENST00000498692 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors FAM70B HGNC FAM71B 153745 genome.wustl.edu 37 5 156589943 156589943 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 156589943 156589943 G C SNP FAM71B ENST00000302938 human ensembl 70_37 -1 known missense c.1333 p.H445D 0.320 NULL pfam_DUF3699 - no_errors FAM71B HGNC FAM71E2 284418 genome.wustl.edu 37 19 55873756 55873756 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 55873756 55873756 C G SNP FAM71E2 ENST00000424985 human ensembl 70_37 -1 novel missense c.421 p.E141Q 0.506 pfam_DUF3699 pfam_DUF3699 - no_errors FAM71E2 HGNC FAM73A 374986 genome.wustl.edu 37 1 78245412 78245412 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 78245412 78245412 G A SNP FAM73A ENST00000370791 human ensembl 70_37 +1 known silent c.72 p.L24 0.169 NULL pfam_DUF2217 - no_errors FAM73A HGNC RMDN1 51115 genome.wustl.edu 37 8 87498804 87498804 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 87498804 87498804 G C SNP FAM82B ENST00000406452 human ensembl 70_37 -1 known nonsense c.404 p.S135* 0.989 NULL NULL - no_errors FAM82B HGNC FAM86DP 692099 genome.wustl.edu 37 3 75472072 75472072 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 75472072 75472072 G A SNP FAM86DP ENST00000459803 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors FAM86DP HGNC FAM96A 84191 genome.wustl.edu 37 15 64367720 64367720 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 64367720 64367720 G C SNP FAM96A ENST00000300030 human ensembl 70_37 -1 known missense c.356 p.S119C 1.000 NULL pfam_DUF59 - no_errors FAM96A HGNC FAM9C 171484 genome.wustl.edu 37 X 13061280 13061280 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 13061280 13061280 C T SNP FAM9C ENST00000333995 human ensembl 70_37 -1 known missense c.149 p.R50K 0.006 NULL pfam_Cor1/Xlr/Xmr - no_errors FAM9C HGNC FARP1 10160 genome.wustl.edu 37 13 99083327 99083327 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 99083327 99083327 G A SNP FARP1 ENST00000376586 human ensembl 70_37 +1 known missense c.1936 p.E646K 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FARP1 HGNC FARP1 10160 genome.wustl.edu 37 13 99101831 99101831 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 99101831 99101831 C T SNP FARP1 ENST00000597596 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors FARP1 HGNC FARP2 9855 genome.wustl.edu 37 2 242407698 242407698 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 242407698 242407698 G A SNP FARP2 ENST00000264042 human ensembl 70_37 +1 known silent c.2037 p.L679 0.999 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FARP2 HGNC FASN 2194 genome.wustl.edu 37 17 80042681 80042681 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 80042681 80042681 C G SNP FASN ENST00000306749 human ensembl 70_37 -1 known missense c.4558 p.E1520Q 0.011 NULL pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC FAT2 2196 genome.wustl.edu 37 5 150932740 150932740 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 150932740 150932740 G C SNP FAT2 ENST00000261800 human ensembl 70_37 -1 known nonsense c.4154 p.S1385* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC FAT2 2196 genome.wustl.edu 37 5 150942963 150942963 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 150942963 150942963 G C SNP FAT2 ENST00000261800 human ensembl 70_37 -1 known missense c.3497 p.S1166C 0.395 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC FBN1 2200 genome.wustl.edu 37 15 48779635 48779635 + Splice_Site SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 48779635 48779635 C T SNP FBN1 ENST00000316623 human ensembl 70_37 -1 known splice_site c.3338-1 e27-1 1.000 - - - no_errors FBN1 HGNC FBN3 84467 genome.wustl.edu 37 19 8197937 8197937 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 8197937 8197937 C T SNP FBN3 ENST00000270509 human ensembl 70_37 -1 known missense c.1645 p.E549K 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC FBXL7 23194 genome.wustl.edu 37 5 15937289 15937289 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 15937289 15937289 C G SNP FBXL7 ENST00000504595 human ensembl 70_37 +1 known missense c.1470 p.F490L 1.000 NULL pfam_Leu-rich_rpt,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL7 HGNC FBXO21 23014 genome.wustl.edu 37 12 117584046 117584046 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 117584046 117584046 G A SNP FBXO21 ENST00000330622 human ensembl 70_37 -1 known missense c.1733 p.S578L 0.987 pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,tigrfam_Hemimethylated_DNA-bd_dom pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom_cyclin-like,tigrfam_Hemimethylated_DNA-bd_dom - no_errors FBXO21 HGNC FBXO39 162517 genome.wustl.edu 37 17 6683544 6683544 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 6683544 6683544 G C SNP FBXO39 ENST00000321535 human ensembl 70_37 +1 known silent c.357 p.L119 1.000 NULL NULL - no_errors FBXO39 HGNC FBXO9 26268 genome.wustl.edu 37 6 52958272 52958272 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 52958272 52958272 G A SNP FBXO9 ENST00000244426 human ensembl 70_37 +1 known missense c.902 p.R301K 1.000 superfamily_F-box_dom_cyclin-like pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO9 HGNC FBXW4 6468 genome.wustl.edu 37 10 103433427 103433427 + Splice_Site SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 103433427 103433427 C G SNP FBXW4 ENST00000331272 human ensembl 70_37 -1 known splice_site c.361-1 e3-1 1.000 - - - no_errors FBXW4 HGNC FBXW7 55294 genome.wustl.edu 37 4 153244184 153244184 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 153244184 153244184 C T SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known missense c.1973 p.R658Q 1.000 smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC FBXW7 55294 genome.wustl.edu 37 4 153258986 153258986 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 153258986 153258986 G C SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known missense c.829 p.Q277E 1.000 superfamily_F-box_dom_cyclin-like pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC FCGR1B 2210 genome.wustl.edu 37 1 120927232 120927232 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 120927232 120927232 C T SNP FCGR1B ENST00000369384 human ensembl 70_37 -1 known missense c.748 p.D250N 0.000 NULL pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCGR1B HGNC FCRLA 84824 genome.wustl.edu 37 1 161680322 161680322 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 161680322 161680322 C T SNP FCRLA ENST00000470841 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors FCRLA HGNC FDPS 2224 genome.wustl.edu 37 1 155288527 155288527 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 155288527 155288527 C T SNP FDPS ENST00000356657 human ensembl 70_37 +1 known silent c.756 p.V252 0.805 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors FDPS HGNC FDPS 2224 genome.wustl.edu 37 1 155290320 155290320 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 155290320 155290320 C G SNP FDPS ENST00000356657 human ensembl 70_37 +1 known missense c.1180 p.L394V 0.992 superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors FDPS HGNC FER 2241 genome.wustl.edu 37 5 108521904 108521904 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 108521904 108521904 G C SNP FER ENST00000281092 human ensembl 70_37 +1 known missense c.2207 p.R736T 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_FCH,superfamily_Kinase-like_dom,smart_FCH,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH,pfscan_SH2,pfscan_Prot_kinase_cat_dom - no_errors FER HGNC FER1L4 80307 genome.wustl.edu 37 20 34191046 34191046 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 34191046 34191046 C T SNP FER1L4 ENST00000430275 human ensembl 70_37 -1 known rna NULL NULL 0.107 - - - no_errors FER1L4 HGNC FER1L6 654463 genome.wustl.edu 37 8 124968231 124968231 + Splice_Site SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 124968231 124968231 G A SNP FER1L6 ENST00000522917 human ensembl 70_37 +1 known splice_site c.1-1 e1-1 1.000 - - - no_errors FER1L6 HGNC FERMT2 10979 genome.wustl.edu 37 14 53324870 53324870 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 53324870 53324870 C T SNP FERMT2 ENST00000557255 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FERMT2 HGNC FERMT2 10979 genome.wustl.edu 37 14 53327241 53327241 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 53327241 53327241 G C SNP FERMT2 ENST00000557255 human ensembl 70_37 -1 known rna NULL NULL 0.012 - - - no_errors FERMT2 HGNC FEZF2 55079 genome.wustl.edu 37 3 62358300 62358300 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 62358300 62358300 C G SNP FEZF2 ENST00000283268 human ensembl 70_37 -1 known missense c.244 p.E82Q 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF2 HGNC FGG 2266 genome.wustl.edu 37 4 155531224 155531224 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 155531224 155531224 C T SNP FGG ENST00000336098 human ensembl 70_37 -1 known missense c.527 p.G176E 1.000 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors FGG HGNC FGR 2268 genome.wustl.edu 37 1 27941981 27941981 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 27941981 27941981 C T SNP FGR ENST00000374003 human ensembl 70_37 -1 known missense c.982 p.E328K 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FGR HGNC FLG 2312 genome.wustl.edu 37 1 152287172 152287172 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 152287172 152287172 C G SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.190 p.D64H 0.979 pfscan_EF_HAND_2 pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC FLJ26850 400710 genome.wustl.edu 37 19 50554229 50554229 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 50554229 50554229 G A SNP FLJ26850 ENST00000527209 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2126E3.1 Clone_based_vega_gene FLJ32955 150596 genome.wustl.edu 37 2 150714717 150714717 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 150714717 150714717 C T SNP FLJ32955 ENST00000295052 human ensembl 70_37 -1 known rna NULL NULL 0.075 - - - no_errors AC007364.1 Clone_based_vega_gene FLJ40448 0 genome.wustl.edu 37 16 88809798 88809798 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 88809798 88809798 C T SNP FLJ40448 ENST00000333666 human ensembl 70_37 +1 known rna NULL NULL 0.042 - - - no_errors RP5-1142A6.8 Clone_based_vega_gene FLNB 2317 genome.wustl.edu 37 3 58109198 58109198 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 58109198 58109198 G A SNP FLNB ENST00000295956 human ensembl 70_37 +1 known missense c.3505 p.E1169K 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC FLT1 2321 genome.wustl.edu 37 13 28979985 28979985 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 28979985 28979985 C T SNP FLT1 ENST00000282397 human ensembl 70_37 -1 known missense c.1483 p.D495N 0.011 smart_Ig_sub,pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT1 HGNC FMN2 56776 genome.wustl.edu 37 1 240256666 240256666 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 240256666 240256666 C G SNP FMN2 ENST00000319653 human ensembl 70_37 +1 known missense c.1257 p.I419M 1.000 NULL pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC FNBP4 23360 genome.wustl.edu 37 11 47765561 47765561 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 47765561 47765561 G C SNP FNBP4 ENST00000263773 human ensembl 70_37 -1 known missense c.1400 p.S467C 1.000 NULL pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors FNBP4 HGNC FOXC1 2296 genome.wustl.edu 37 6 1611076 1611076 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 1611076 1611076 C G SNP FOXC1 ENST00000380874 human ensembl 70_37 +1 known silent c.396 p.L132 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXC1 HGNC FOXD2 2306 genome.wustl.edu 37 1 47904257 47904257 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 47904257 47904257 G C SNP FOXD2 ENST00000334793 human ensembl 70_37 +1 known missense c.450 p.L150F 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD2 HGNC FOXP1 27086 genome.wustl.edu 37 3 71015120 71015120 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 71015120 71015120 C T SNP FOXP1 ENST00000318789 human ensembl 70_37 -1 known missense c.1810 p.E604K 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP1 HGNC FOXP4 116113 genome.wustl.edu 37 6 41562607 41562607 + Splice_Site SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 41562607 41562607 G A SNP FOXP4 ENST00000307972 human ensembl 70_37 +1 known splice_site c.1537-1 e13-1 1.000 - - - no_errors FOXP4 HGNC FOXR2 139628 genome.wustl.edu 37 X 55650352 55650352 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 55650352 55650352 G C SNP FOXR2 ENST00000339140 human ensembl 70_37 +1 known missense c.208 p.D70H 0.113 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXR2 HGNC FREM3 166752 genome.wustl.edu 37 4 144617229 144617229 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 144617229 144617229 C T SNP FREM3 ENST00000329798 human ensembl 70_37 -1 putative missense c.4600 p.D1534N 0.896 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC FRMPD1 22844 genome.wustl.edu 37 9 37745883 37745883 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 37745883 37745883 C T SNP FRMPD1 ENST00000377765 human ensembl 70_37 +1 known missense c.3854 p.S1285F 0.581 NULL pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD1 HGNC FRMPD1 22844 genome.wustl.edu 37 9 37746008 37746008 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 37746008 37746008 C G SNP FRMPD1 ENST00000377765 human ensembl 70_37 +1 known missense c.3979 p.P1327A 0.045 NULL pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD1 HGNC FRS2 10818 genome.wustl.edu 37 12 69968496 69968496 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 69968496 69968496 G A SNP FRS2 ENST00000299293 human ensembl 70_37 +1 known missense c.1288 p.E430K 1.000 NULL pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors FRS2 HGNC FSIP2 401024 genome.wustl.edu 37 2 186655010 186655010 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 186655010 186655010 C T SNP FSIP2 ENST00000343098 human ensembl 70_37 +1 known silent c.3414 p.I1138 0.000 NULL NULL - no_errors FSIP2 HGNC FSIP2 401024 genome.wustl.edu 37 2 186670251 186670251 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 186670251 186670251 C T SNP FSIP2 ENST00000343098 human ensembl 70_37 +1 known silent c.16485 p.F5495 0.994 NULL NULL - no_errors FSIP2 HGNC CMTR1 23070 genome.wustl.edu 37 6 37414095 37414095 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 37414095 37414095 G A SNP FTSJD2 ENST00000373451 human ensembl 70_37 +1 known missense c.314 p.G105E 1.000 pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom pfam_rRNA_MeTrfase_FtsJ_dom,pfam_G_patch_dom,smart_G_patch_dom,smart_WW_Rsp5_WWP,pfscan_G_patch_dom - no_errors FTSJD2 HGNC FUBP3 8939 genome.wustl.edu 37 9 133470931 133470931 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 133470931 133470931 C T SNP FUBP3 ENST00000319725 human ensembl 70_37 +1 known missense c.146 p.S49L 0.983 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FUBP3 HGNC FUNDC2 65991 genome.wustl.edu 37 X 154279971 154279971 + Missense_Mutation SNP A A C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 154279971 154279971 A C SNP FUNDC2 ENST00000369498 human ensembl 70_37 +1 known missense c.387 p.K129N 0.924 pfam_FUN14 pfam_FUN14 - no_errors FUNDC2 HGNC FUT3 2525 genome.wustl.edu 37 19 5844386 5844386 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 5844386 5844386 G A SNP FUT3 ENST00000303225 human ensembl 70_37 -1 known silent c.465 p.L155 1.000 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT3 HGNC FUT8 2530 genome.wustl.edu 37 14 66188690 66188690 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 66188690 66188690 G C SNP FUT8 ENST00000360689 human ensembl 70_37 +1 known missense c.1033 p.E345Q 1.000 pirsf_Alpha1_6FUT_euk superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk - no_errors FUT8 HGNC FZD5 7855 genome.wustl.edu 37 2 208633201 208633201 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 208633201 208633201 G A SNP FZD5 ENST00000295417 human ensembl 70_37 -1 known missense c.263 p.S88F 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD5 HGNC G6PC3 92579 genome.wustl.edu 37 17 42151565 42151565 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 42151565 42151565 G C SNP G6PC3 ENST00000269097 human ensembl 70_37 +1 known missense c.256 p.E86Q 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase - no_errors G6PC3 HGNC GABBR2 9568 genome.wustl.edu 37 9 101235587 101235587 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 101235587 101235587 G A SNP GABBR2 ENST00000259455 human ensembl 70_37 -1 known silent c.840 p.I280 1.000 pfam_ANF_lig-bd_rcpt,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1 pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3 - no_errors GABBR2 HGNC GABRB3 2562 genome.wustl.edu 37 15 27184442 27184442 + Nonsense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 27184442 27184442 C A SNP GABRB3 ENST00000541819 human ensembl 70_37 -1 putative nonsense c.142 p.E48* 1.000 NULL pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC GABRQ 55879 genome.wustl.edu 37 X 151818219 151818219 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 151818219 151818219 G A SNP GABRQ ENST00000370306 human ensembl 70_37 +1 known missense c.625 p.E209K 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAt_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABAAb_rcpt,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRQ HGNC GAL3ST4 79690 genome.wustl.edu 37 7 99764665 99764665 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 99764665 99764665 C G SNP GAL3ST4 ENST00000426974 human ensembl 70_37 -1 known missense c.172 p.G58R 0.997 NULL pfam_Gal-3-0_sulfotransfrase - no_errors GAL3ST4 HGNC GANC 2595 genome.wustl.edu 37 15 42631869 42631869 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 42631869 42631869 G C SNP GANC ENST00000318010 human ensembl 70_37 +1 known missense c.1846 p.D616H 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd - no_errors GANC HGNC GAPDHS 26330 genome.wustl.edu 37 19 36035818 36035818 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 36035818 36035818 C G SNP GAPDHS ENST00000222286 human ensembl 70_37 +1 known missense c.1064 p.S355C 1.000 pfam_GlycerAld_3-P_DH_cat,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 - no_errors GAPDHS HGNC GAPVD1 26130 genome.wustl.edu 37 9 128122832 128122832 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 128122832 128122832 C T SNP GAPVD1 ENST00000394105 human ensembl 70_37 +1 known missense c.4151 p.P1384L 1.000 pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP - no_errors GAPVD1 HGNC GART 2618 genome.wustl.edu 37 21 34892738 34892738 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 34892738 34892738 G A SNP GART ENST00000381815 human ensembl 70_37 -1 known silent c.1635 p.L545 0.001 pfam_AIR_synth_N_dom,superfamily_PurM_N-like,tigrfam_PurM_cligase pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans - no_errors GART HGNC GAS6 2621 genome.wustl.edu 37 13 114549990 114549990 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 114549990 114549990 G A SNP GAS6 ENST00000355761 human ensembl 70_37 -1 known nonsense c.67 p.Q23* 0.002 NULL pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors GAS6 HGNC GATS 352954 genome.wustl.edu 37 7 99799678 99799678 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 99799678 99799678 C G SNP GATS ENST00000543273 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors GATS HGNC GBP1 2633 genome.wustl.edu 37 1 89520389 89520389 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 89520389 89520389 C G SNP GBP1 ENST00000370473 human ensembl 70_37 -1 known missense c.1641 p.E547D 0.000 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C - no_errors GBP1 HGNC GDAP2 54834 genome.wustl.edu 37 1 118461268 118461268 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 118461268 118461268 G A SNP GDAP2 ENST00000369443 human ensembl 70_37 -1 known silent c.267 p.I89 1.000 pfam_A1pp,smart_A1pp,pfscan_A1pp pfam_A1pp,superfamily_CRAL-TRIO_dom,smart_A1pp,smart_CRAL-TRIO_dom,pfscan_A1pp - no_errors GDAP2 HGNC GDF9 2661 genome.wustl.edu 37 5 132200003 132200003 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 132200003 132200003 C T SNP GDF9 ENST00000296875 human ensembl 70_37 -1 known missense c.223 p.G75R 0.014 NULL pfam_TGF-b_C,smart_TGF-b_C - no_errors GDF9 HGNC GET4 51608 genome.wustl.edu 37 7 933395 933395 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 933395 933395 C T SNP GET4 ENST00000265857 human ensembl 70_37 +1 known silent c.765 p.F255 1.000 pfam_UPF0363 pfam_UPF0363 - no_errors GET4 HGNC GGA3 23163 genome.wustl.edu 37 17 73236973 73236973 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 73236973 73236973 G C SNP GGA3 ENST00000245541 human ensembl 70_37 -1 known missense c.1112 p.S371C 0.453 NULL pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA3 HGNC GHDC 84514 genome.wustl.edu 37 17 40342363 40342363 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 40342363 40342363 C G SNP GHDC ENST00000436923 human ensembl 70_37 -1 known missense c.1303 p.D435H 0.000 NULL pfam_GH3 - no_errors GHDC HGNC GHDC 84514 genome.wustl.edu 37 17 40342672 40342672 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 40342672 40342672 C G SNP GHDC ENST00000301671 human ensembl 70_37 -1 known missense c.1258 p.D420H 1.000 pfam_GH3 pfam_GH3 - no_errors GHDC HGNC GIMAP1 170575 genome.wustl.edu 37 7 150417411 150417411 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 150417411 150417411 C A SNP GIMAP1 ENST00000307194 human ensembl 70_37 +1 known missense c.319 p.L107I 0.086 pfam_AIG1 pfam_AIG1 - no_errors GIMAP1 HGNC GIMAP2 26157 genome.wustl.edu 37 7 150389519 150389519 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 150389519 150389519 G A SNP GIMAP2 ENST00000223293 human ensembl 70_37 +1 known missense c.145 p.E49K 0.634 pfam_AIG1 pfam_AIG1 - no_errors GIMAP2 HGNC GIPC3 126326 genome.wustl.edu 37 19 3585802 3585802 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 3585802 3585802 C G SNP GIPC3 ENST00000322315 human ensembl 70_37 +1 known missense c.207 p.F69L 1.000 pirsf_UCP038083_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ - no_errors GIPC3 HGNC GIT2 9815 genome.wustl.edu 37 12 110370926 110370926 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 110370926 110370926 C T SNP GIT2 ENST00000355312 human ensembl 70_37 -1 known missense c.2137 p.E713K 1.000 pfam_GIT1_C pfam_GIT1_C,pfam_GIT_SHD,pfam_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,smart_Ankyrin_rpt,smart_GIT_SHD,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors GIT2 HGNC GLB1 2720 genome.wustl.edu 37 3 33059991 33059991 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 33059991 33059991 G C SNP GLB1 ENST00000445488 human ensembl 70_37 -1 known silent c.1440 p.L480 0.984 NULL pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1 HGNC GLIS2 84662 genome.wustl.edu 37 16 4384930 4384930 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 4384930 4384930 C G SNP GLIS2 ENST00000262366 human ensembl 70_37 +1 known silent c.474 p.L158 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS2 HGNC GLIS2 84662 genome.wustl.edu 37 16 4385353 4385353 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 4385353 4385353 C T SNP GLIS2 ENST00000262366 human ensembl 70_37 +1 known missense c.734 p.S245F 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS2 HGNC GLIS3 169792 genome.wustl.edu 37 9 4125815 4125815 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 4125815 4125815 G C SNP GLIS3 ENST00000381971 human ensembl 70_37 -1 known missense c.515 p.S172C 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS3 HGNC GLIS3 169792 genome.wustl.edu 37 9 4125836 4125836 + Nonsense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 4125836 4125836 G T SNP GLIS3 ENST00000381971 human ensembl 70_37 -1 known nonsense c.494 p.S165* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS3 HGNC GLRX 2745 genome.wustl.edu 37 5 95158313 95158313 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 95158313 95158313 G A SNP GLRX ENST00000237858 human ensembl 70_37 -1 known silent c.54 p.F18 1.000 pfam_Glutaredoxin,pfam_Glutaredoxin-like,superfamily_Thioredoxin-like_fold,prints_Glutaredoxin_subgr,tigrfam_Glutaredoxin_euk/vir pfam_Glutaredoxin,pfam_Glutaredoxin-like,superfamily_Thioredoxin-like_fold,prints_Glutaredoxin_subgr,tigrfam_Glutaredoxin_euk/vir - no_errors GLRX HGNC GLS2 27165 genome.wustl.edu 37 12 56868639 56868639 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 56868639 56868639 G C SNP GLS2 ENST00000311966 human ensembl 70_37 -1 known silent c.1038 p.L346 1.000 pfam_Glutaminase,superfamily_Beta-lactam/transpept-like,tigrfam_Glutaminase pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase - no_errors GLS2 HGNC GLT1D1 144423 genome.wustl.edu 37 12 129360521 129360521 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 129360521 129360521 G C SNP GLT1D1 ENST00000442111 human ensembl 70_37 +1 known missense c.131 p.R44P 0.090 NULL pfam_Glyco_trans_1 - no_errors GLT1D1 HGNC GNA12 2768 genome.wustl.edu 37 7 2883556 2883556 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 2883556 2883556 G C SNP GNA12 ENST00000275364 human ensembl 70_37 -1 known missense c.240 p.I80M 1.000 pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha12 - no_errors GNA12 HGNC GNAQ 2776 genome.wustl.edu 37 9 80336364 80336364 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 80336364 80336364 C T SNP GNAQ ENST00000286548 human ensembl 70_37 -1 known missense c.955 p.D319N 1.000 pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_GproteinA pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_GproteinA - no_errors GNAQ HGNC GNB5 10681 genome.wustl.edu 37 15 52416673 52416673 + Silent SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 52416673 52416673 G T SNP GNB5 ENST00000261837 human ensembl 70_37 -1 known silent c.1173 p.L391 0.094 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep - no_errors GNB5 HGNC GNG2 54331 genome.wustl.edu 37 14 52344355 52344355 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 52344355 52344355 C G SNP GNG2 ENST00000556522 human ensembl 70_37 +1 known missense c.85 p.Q29E 0.971 NULL NULL - no_errors GNG2 HGNC GNL2 29889 genome.wustl.edu 37 1 38041233 38041233 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 38041233 38041233 G C SNP GNL2 ENST00000373062 human ensembl 70_37 -1 known missense c.1106 p.S369C 1.000 pfam_GTP_binding_domain,prints_GTP_binding_domain pfam_NOG2_N_dom,pfam_GTP_binding_domain,prints_GTP_binding_domain - no_errors GNL2 HGNC GNPTAB 79158 genome.wustl.edu 37 12 102183783 102183783 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 102183783 102183783 C T SNP GNPTAB ENST00000299314 human ensembl 70_37 -1 known missense c.256 p.D86N 0.999 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 GOLGA3 2802 genome.wustl.edu 37 12 133365775 133365775 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 133365775 133365775 C T SNP GOLGA3 ENST00000204726 human ensembl 70_37 -1 known silent c.2649 p.L883 1.000 superfamily_Prefoldin superfamily_Prefoldin - no_errors GOLGA3 HGNC GOLGA3 2802 genome.wustl.edu 37 12 133383849 133383849 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 133383849 133383849 C G SNP GOLGA3 ENST00000204726 human ensembl 70_37 -1 known missense c.1204 p.E402Q 0.985 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC GOLGA4 2803 genome.wustl.edu 37 3 37366456 37366456 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 37366456 37366456 G C SNP GOLGA4 ENST00000361924 human ensembl 70_37 +1 known missense c.3079 p.E1027Q 1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC GOLGA8H 728498 genome.wustl.edu 37 15 30902077 30902077 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 30902077 30902077 G A SNP GOLGA8H ENST00000566740 human ensembl 70_37 +1 novel silent c.660 p.L220 0.009 NULL NULL - no_errors GOLGA8H HGNC GOLGB1 2804 genome.wustl.edu 37 3 121417372 121417372 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 121417372 121417372 C G SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.1983 p.L661F 0.003 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC GOLGB1 2804 genome.wustl.edu 37 3 121449758 121449758 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 121449758 121449758 C T SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.61 p.D21N 0.977 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC GOLT1B 51026 genome.wustl.edu 37 12 21668697 21668697 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 21668697 21668697 G C SNP GOLT1B ENST00000535593 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors GOLT1B HGNC GORASP2 26003 genome.wustl.edu 37 2 171786399 171786399 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 171786399 171786399 G C SNP GORASP2 ENST00000454751 human ensembl 70_37 +1 known missense c.212 p.R71P 0.000 NULL NULL - no_errors GORASP2 HGNC GPANK1 7918 genome.wustl.edu 37 6 31631984 31631984 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 31631984 31631984 C T SNP GPANK1 ENST00000375893 human ensembl 70_37 -1 known missense c.272 p.R91K 0.505 NULL pfam_G_patch_dom,superfamily_Ankyrin_rpt-contain_dom,smart_G_patch_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_G_patch_dom - no_errors GPANK1 HGNC GPATCH2 55105 genome.wustl.edu 37 1 217688174 217688174 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 217688174 217688174 G T SNP GPATCH2 ENST00000366935 human ensembl 70_37 -1 known missense c.1156 p.H386N 1.000 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH2 HGNC GPATCH2 55105 genome.wustl.edu 37 1 217688182 217688182 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 217688182 217688182 G A SNP GPATCH2 ENST00000366935 human ensembl 70_37 -1 known missense c.1148 p.P383L 0.991 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH2 HGNC GPATCH8 23131 genome.wustl.edu 37 17 42478508 42478508 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 42478508 42478508 C T SNP GPATCH8 ENST00000591680 human ensembl 70_37 -1 known missense c.937 p.E313K 1.000 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC GPBP1L1 60313 genome.wustl.edu 37 1 46124624 46124624 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 46124624 46124624 G C SNP GPBP1L1 ENST00000495616 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GPBP1L1 HGNC GPC1 2817 genome.wustl.edu 37 2 241404942 241404942 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 241404942 241404942 G A SNP GPC1 ENST00000264039 human ensembl 70_37 +1 known missense c.1321 p.E441K 1.000 pfam_Glypican pfam_Glypican - no_errors GPC1 HGNC GPR110 266977 genome.wustl.edu 37 6 46988506 46988506 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 46988506 46988506 C G SNP GPR110 ENST00000371253 human ensembl 70_37 -1 known missense c.572 p.R191T 0.006 pfam_SEA pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR110 HGNC GPR111 222611 genome.wustl.edu 37 6 47650137 47650137 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 47650137 47650137 C T SNP GPR111 ENST00000296862 human ensembl 70_37 +1 known silent c.1842 p.I614 0.775 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR111 HGNC GPR113 165082 genome.wustl.edu 37 2 26532840 26532840 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 26532840 26532840 G A SNP GPR113 ENST00000311519 human ensembl 70_37 -1 putative missense c.3212 p.S1071L 0.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR113 HGNC GPR113 165082 genome.wustl.edu 37 2 26532887 26532887 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 26532887 26532887 G A SNP GPR113 ENST00000311519 human ensembl 70_37 -1 putative silent c.3165 p.L1055 0.001 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR113 HGNC GPR114 221188 genome.wustl.edu 37 16 57624556 57624556 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 57624556 57624556 G A SNP GPR114 ENST00000569839 human ensembl 70_37 +1 known rna NULL NULL 0.057 - - - no_errors GPR114 HGNC GPR179 440435 genome.wustl.edu 37 17 36499245 36499245 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 36499245 36499245 C T SNP GPR179 ENST00000342292 human ensembl 70_37 -1 known missense c.428 p.R143K 0.000 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC GPR64 10149 genome.wustl.edu 37 X 19021127 19021127 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 19021127 19021127 C G SNP GPR64 ENST00000379869 human ensembl 70_37 -1 known missense c.2067 p.K689N 0.279 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR64 HGNC GPR98 84059 genome.wustl.edu 37 5 89985822 89985822 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 89985822 89985822 G A SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.6635 p.G2212E 1.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC GPR98 84059 genome.wustl.edu 37 5 90101239 90101239 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 90101239 90101239 G A SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.14800 p.E4934K 0.623 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC GPRIN3 285513 genome.wustl.edu 37 4 90170445 90170445 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 90170445 90170445 C G SNP GPRIN3 ENST00000333209 human ensembl 70_37 -1 known missense c.817 p.E273Q 0.000 NULL NULL - no_errors GPRIN3 HGNC GRB14 2888 genome.wustl.edu 37 2 165353988 165353988 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 165353988 165353988 C T SNP GRB14 ENST00000263915 human ensembl 70_37 -1 known missense c.1117 p.E373K 1.000 pfam_BPS-dom pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB14 HGNC GREB1L 80000 genome.wustl.edu 37 18 19053101 19053101 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 19053101 19053101 G A SNP GREB1L ENST00000424526 human ensembl 70_37 +1 known missense c.2292 p.M764I 1.000 NULL NULL - no_errors GREB1L HGNC GRIN2A 2903 genome.wustl.edu 37 16 9858728 9858728 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 9858728 9858728 C T SNP GRIN2A ENST00000330684 human ensembl 70_37 -1 known silent c.2673 p.Q891 1.000 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC GRIP1 23426 genome.wustl.edu 37 12 66786232 66786232 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 66786232 66786232 C T SNP GRIP1 ENST00000359742 human ensembl 70_37 -1 known missense c.2320 p.D774N 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC GTF2I 2969 genome.wustl.edu 37 7 74157852 74157852 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 74157852 74157852 G C SNP GTF2I ENST00000324896 human ensembl 70_37 +1 known missense c.1743 p.L581F 1.000 pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2I HGNC GTF2I 2969 genome.wustl.edu 37 7 74172300 74172300 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 74172300 74172300 G C SNP GTF2I ENST00000324896 human ensembl 70_37 +1 known missense c.2905 p.E969Q 1.000 pirsf_TF_II-I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2I HGNC GTF2IRD1 9569 genome.wustl.edu 37 7 74005296 74005296 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 74005296 74005296 G T SNP GTF2IRD1 ENST00000265755 human ensembl 70_37 +1 known missense c.2586 p.K862N 1.000 pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2IRD1 HGNC GTF2IRD2P1 401375 genome.wustl.edu 37 7 72658866 72658866 + RNA SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 72658866 72658866 G T SNP GTF2IRD2P1 ENST00000425256 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors GTF2IRD2P1 HGNC GTF3C1 2975 genome.wustl.edu 37 16 27475925 27475925 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 27475925 27475925 C T SNP GTF3C1 ENST00000356183 human ensembl 70_37 -1 known missense c.5588 p.R1863H 0.019 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC GTF3C6 112495 genome.wustl.edu 37 6 111288815 111288815 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 111288815 111288815 C T SNP GTF3C6 ENST00000329970 human ensembl 70_37 +1 known missense c.464 p.S155L 0.422 NULL pfam_TFIIIC_tau55-rel - no_errors GTF3C6 HGNC GTF3C6 112495 genome.wustl.edu 37 6 111288847 111288847 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 111288847 111288847 G A SNP GTF3C6 ENST00000329970 human ensembl 70_37 +1 known missense c.496 p.E166K 0.733 NULL pfam_TFIIIC_tau55-rel - no_errors GTF3C6 HGNC GTPBP2 54676 genome.wustl.edu 37 6 43588571 43588571 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 43588571 43588571 G C SNP GTPBP2 ENST00000476510 human ensembl 70_37 -1 known rna NULL NULL 0.080 - - - no_errors GTPBP2 HGNC GUCY1A3 2982 genome.wustl.edu 37 4 156632145 156632145 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 156632145 156632145 G A SNP GUCY1A3 ENST00000296518 human ensembl 70_37 +1 known silent c.828 p.V276 0.935 pfam_Haem_no_assoc-bd pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A3 HGNC GUCY1B3 2983 genome.wustl.edu 37 4 156723364 156723364 + Splice_Site SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 156723364 156723364 G C SNP GUCY1B3 ENST00000507146 human ensembl 70_37 +1 putative splice_site c.972-1 e7-1 0.000 - - - no_errors GUCY1B3 HGNC GYG1 2992 genome.wustl.edu 37 3 148714544 148714544 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 148714544 148714544 G A SNP GYG1 ENST00000345003 human ensembl 70_37 +1 known missense c.334 p.D112N 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GYG1 HGNC GYG2 8908 genome.wustl.edu 37 X 2773193 2773193 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 2773193 2773193 G T SNP GYG2 ENST00000381163 human ensembl 70_37 +1 known missense c.577 p.D193Y 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GYG2 HGNC H19 283120 genome.wustl.edu 37 11 2017210 2017210 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 2017210 2017210 G C SNP H19 ENST00000411754 human ensembl 70_37 -1 known rna NULL NULL 0.995 - - - no_errors H19 HGNC H3F3B 3021 genome.wustl.edu 37 17 73774737 73774737 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 73774737 73774737 C T SNP H3F3B ENST00000254810 human ensembl 70_37 -1 known missense c.350 p.R117K 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors H3F3B HGNC H3F3B 3021 genome.wustl.edu 37 17 73774771 73774771 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 73774771 73774771 C T SNP H3F3B ENST00000254810 human ensembl 70_37 -1 known missense c.316 p.E106K 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors H3F3B HGNC HACL1 26061 genome.wustl.edu 37 3 15633153 15633153 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 15633153 15633153 G C SNP HACL1 ENST00000321169 human ensembl 70_37 -1 known missense c.262 p.L88V 1.000 pfam_Thiamin_PyroP_enz_TPP-bd_dom pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_Thiamin_PyroP_enz_cen_dom,pfam_TPP_enzyme-bd_C,pfam_CO_DH_CoA_synth - no_errors HACL1 HGNC HAO2 51179 genome.wustl.edu 37 1 119923791 119923791 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 119923791 119923791 G C SNP HAO2 ENST00000361035 human ensembl 70_37 +1 known missense c.122 p.G41A 1.000 pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN pfam_FMN-dep_DH,pfam_IMP_DH_GMPRt,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN - no_errors HAO2 HGNC HAS3 3038 genome.wustl.edu 37 16 69152355 69152355 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 69152355 69152355 G C SNP HAS3 ENST00000219322 human ensembl 70_37 +1 known missense c.836 p.R279T 0.780 NULL NULL - no_errors HAS3 HGNC HAUS6 54801 genome.wustl.edu 37 9 19060161 19060161 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 19060161 19060161 C G SNP HAUS6 ENST00000380502 human ensembl 70_37 -1 known missense c.1690 p.E564Q 1.000 NULL NULL - no_errors HAUS6 HGNC HCFC2 29915 genome.wustl.edu 37 12 104480731 104480731 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 104480731 104480731 G C SNP HCFC2 ENST00000229330 human ensembl 70_37 +1 known missense c.1170 p.L390F 0.998 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors HCFC2 HGNC HCK 3055 genome.wustl.edu 37 20 30659523 30659523 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 30659523 30659523 G A SNP HCK ENST00000375852 human ensembl 70_37 +1 known missense c.121 p.E41K 0.028 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors HCK HGNC HDAC6 10013 genome.wustl.edu 37 X 48674575 48674575 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 48674575 48674575 C G SNP HDAC6 ENST00000444343 human ensembl 70_37 +1 known missense c.1563 p.I521M 0.503 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC HES1 3280 genome.wustl.edu 37 3 193855591 193855591 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 193855591 193855591 C G SNP HES1 ENST00000232424 human ensembl 70_37 +1 known missense c.412 p.R138G 1.000 pfam_Orange,smart_Orange_subgr,pfscan_Orange pfam_Orange,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom - no_errors HES1 HGNC HIST1H2AH 85235 genome.wustl.edu 37 6 27115271 27115271 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 27115271 27115271 G A SNP HIST1H2AH ENST00000377459 human ensembl 70_37 +1 known missense c.364 p.E122K 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AH HGNC HIST1H2AJ 8331 genome.wustl.edu 37 6 27782446 27782446 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 27782446 27782446 G A SNP HIST1H2AJ ENST00000333151 human ensembl 70_37 -1 known nonsense c.73 p.Q25* 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AJ HGNC HIST1H2AK 8330 genome.wustl.edu 37 6 27805978 27805978 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 27805978 27805978 C A SNP HIST1H2AK ENST00000330180 human ensembl 70_37 -1 known missense c.140 p.G47V 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AK HGNC HIST1H3F 8968 genome.wustl.edu 37 6 26250758 26250758 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 26250758 26250758 C T SNP HIST1H3F ENST00000446824 human ensembl 70_37 -1 known missense c.76 p.A26T 1.000 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3F HGNC HIST1H3G 8355 genome.wustl.edu 37 6 26271487 26271487 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 26271487 26271487 G A SNP HIST1H3G ENST00000305910 human ensembl 70_37 -1 known silent c.126 p.Y42 1.000 superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3G HGNC HIST1H3H 8357 genome.wustl.edu 37 6 27778143 27778143 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 27778143 27778143 G A SNP HIST1H3H ENST00000369163 human ensembl 70_37 +1 known missense c.292 p.E98K 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3H HGNC HIST3H2A 92815 genome.wustl.edu 37 1 228645291 228645291 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 228645291 228645291 C G SNP HIST3H2A ENST00000366695 human ensembl 70_37 -1 known missense c.228 p.K76N 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST3H2A HGNC HIST4H4 121504 genome.wustl.edu 37 12 14923746 14923746 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 14923746 14923746 C T SNP HIST4H4 ENST00000358064 human ensembl 70_37 -1 known silent c.273 p.L91 0.954 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST4H4 HGNC HK2 3099 genome.wustl.edu 37 2 75108881 75108881 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 75108881 75108881 C A SNP HK2 ENST00000290573 human ensembl 70_37 +1 known missense c.1614 p.F538L 1.000 pfam_Hexokinase_N,prints_Hexokinase pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK2 HGNC HLA-A 3105 genome.wustl.edu 37 6 29911302 29911302 + Nonsense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 29911302 29911302 G T SNP HLA-A ENST00000376806 human ensembl 70_37 +1 known nonsense c.601 p.E201* 0.975 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-A HGNC HLA-B 3106 genome.wustl.edu 37 6 31323127 31323127 + Nonsense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 31323127 31323127 C A SNP HLA-B ENST00000412585 human ensembl 70_37 -1 known nonsense c.862 p.E288* 0.933 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-B HGNC HLA-B 3106 genome.wustl.edu 37 6 31323160 31323160 + Nonsense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 31323160 31323160 C A SNP HLA-B ENST00000412585 human ensembl 70_37 -1 known nonsense c.829 p.E277* 0.991 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-B HGNC HLA-DMA 3108 genome.wustl.edu 37 6 32917053 32917053 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 32917053 32917053 G C SNP HLA-DMA ENST00000374843 human ensembl 70_37 -1 known nonsense c.776 p.S259* 0.235 NULL pfam_MHC_II_a_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DMA HGNC HLA-DQA1 3117 genome.wustl.edu 37 6 32609161 32609161 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 32609161 32609161 G C SNP HLA-DQA1 ENST00000343139 human ensembl 70_37 +1 known missense c.157 p.D53H 1.000 pfam_MHC_II_a_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DQA1 HGNC HMCN1 83872 genome.wustl.edu 37 1 186050494 186050494 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 186050494 186050494 C T SNP HMCN1 ENST00000271588 human ensembl 70_37 +1 known missense c.8755 p.H2919Y 0.746 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC HMGN1 3150 genome.wustl.edu 37 21 40720242 40720242 + Silent SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 40720242 40720242 C A SNP HMGN1 ENST00000380749 human ensembl 70_37 -1 known silent c.102 p.A34 0.759 pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam - no_errors HMGN1 HGNC HMGXB3 22993 genome.wustl.edu 37 5 149420366 149420366 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 149420366 149420366 C T SNP HMGXB3 ENST00000502717 human ensembl 70_37 +1 known silent c.2469 p.I823 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGXB3 HGNC HNRNPUL1 11100 genome.wustl.edu 37 19 41778084 41778084 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 41778084 41778084 G C SNP HNRNPUL1 ENST00000392006 human ensembl 70_37 +1 known missense c.516 p.K172N 1.000 NULL pfam_SPRY_rcpt,pfam_SAP_DNA-bd,superfamily_ConA-like_lec_gl_sf,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd - no_errors HNRNPUL1 HGNC HOXC11 3227 genome.wustl.edu 37 12 54369373 54369373 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 54369373 54369373 G A SNP HOXC11 ENST00000243082 human ensembl 70_37 +1 novel silent c.1095 p.L365 0.259 NULL pfam_DUF3528 - no_errors HOXC11 HGNC HOXD12 3238 genome.wustl.edu 37 2 176965365 176965365 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 176965365 176965365 G A SNP HOXD12 ENST00000404162 human ensembl 70_37 +1 novel missense c.718 p.E240K 1.000 NULL NULL - no_errors HOXD12 HGNC HRASLS5 117245 genome.wustl.edu 37 11 63258427 63258427 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 63258427 63258427 G A SNP HRASLS5 ENST00000301790 human ensembl 70_37 -1 known missense c.80 p.S27L 0.002 NULL pfam_LRAT-like_dom - no_errors HRASLS5 HGNC HRNR 388697 genome.wustl.edu 37 1 152188725 152188725 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 152188725 152188725 C T SNP HRNR ENST00000368801 human ensembl 70_37 -1 known missense c.5380 p.D1794N 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC HSD17B12 51144 genome.wustl.edu 37 11 43702327 43702327 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 43702327 43702327 C G SNP HSD17B12 ENST00000527433 human ensembl 70_37 +1 putative rna NULL NULL 0.933 - - - no_errors HSD17B12 HGNC HSD17B13 345275 genome.wustl.edu 37 4 88235080 88235080 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 88235080 88235080 C T SNP HSD17B13 ENST00000328546 human ensembl 70_37 -1 known missense c.590 p.R197K 1.000 pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B13 HGNC HSPA8 3312 genome.wustl.edu 37 11 122930607 122930607 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 122930607 122930607 C A SNP HSPA8 ENST00000534624 human ensembl 70_37 -1 known missense c.694 p.D232Y 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA8 HGNC HSPA8 3312 genome.wustl.edu 37 11 122931493 122931493 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 122931493 122931493 C T SNP HSPA8 ENST00000534624 human ensembl 70_37 -1 known silent c.219 p.L73 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA8 HGNC HSPBAP1 79663 genome.wustl.edu 37 3 122459587 122459587 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 122459587 122459587 C T SNP HSPBAP1 ENST00000306103 human ensembl 70_37 -1 known missense c.1072 p.E358K 0.008 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom,prints_HSPB1-associated_protein_1 - no_errors HSPBAP1 HGNC HSPG2 3339 genome.wustl.edu 37 1 22161247 22161247 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 22161247 22161247 C A SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known missense c.10645 p.D3549Y 0.998 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC HSPG2 3339 genome.wustl.edu 37 1 22170719 22170719 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 22170719 22170719 C G SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known silent c.8538 p.L2846 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC HSPG2 3339 genome.wustl.edu 37 1 22202129 22202129 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 22202129 22202129 C T SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known missense c.3295 p.E1099K 0.999 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC HSPG2 3339 genome.wustl.edu 37 1 22202741 22202741 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 22202741 22202741 G C SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known nonsense c.2984 p.S995* 0.004 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC HTR3A 3359 genome.wustl.edu 37 11 113852023 113852023 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 113852023 113852023 C T SNP HTR3A ENST00000355556 human ensembl 70_37 +1 known silent c.381 p.L127 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors HTR3A HGNC HTR3D 200909 genome.wustl.edu 37 3 183756706 183756706 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 183756706 183756706 C G SNP HTR3D ENST00000382489 human ensembl 70_37 +1 known silent c.1308 p.L436 0.229 superfamily_Neurotrans-gated_channel_TM pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd - no_errors HTR3D HGNC HTR3E 285242 genome.wustl.edu 37 3 183815375 183815375 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 183815375 183815375 C T SNP HTR3E ENST00000415389 human ensembl 70_37 +1 known silent c.58 p.L20 0.292 NULL pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel - no_errors HTR3E HGNC HYDIN 54768 genome.wustl.edu 37 16 70952271 70952271 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 70952271 70952271 G A SNP HYDIN ENST00000316490 human ensembl 70_37 -1 known missense c.7844 p.S2615L 0.997 NULL superfamily_PapD-like - no_errors HYDIN HGNC HYDIN 54768 genome.wustl.edu 37 16 71019146 71019146 + Missense_Mutation SNP T T C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 71019146 71019146 T C SNP HYDIN ENST00000316490 human ensembl 70_37 -1 known missense c.4271 p.D1424G 0.000 NULL superfamily_PapD-like - no_errors HYDIN HGNC IARS 3376 genome.wustl.edu 37 9 95003120 95003120 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 95003120 95003120 C G SNP IARS ENST00000473915 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors IARS HGNC ICAM3 3385 genome.wustl.edu 37 19 10446430 10446430 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 10446430 10446430 G C SNP ICAM3 ENST00000160262 human ensembl 70_37 -1 known nonsense c.566 p.S189* 0.951 pfscan_Ig-like pfam_ICAM_N,smart_Ig_sub,pfscan_Ig-like,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM3 HGNC ICAM5 7087 genome.wustl.edu 37 19 10402778 10402778 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 10402778 10402778 G A SNP ICAM5 ENST00000221980 human ensembl 70_37 +1 known silent c.741 p.V247 1.000 NULL pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM5 HGNC IDH3B 3420 genome.wustl.edu 37 20 2639177 2639177 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 2639177 2639177 G A SNP IDH3B ENST00000488299 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors IDH3B HGNC IDO2 169355 genome.wustl.edu 37 8 39847293 39847293 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 39847293 39847293 C G SNP IDO2 ENST00000502986 human ensembl 70_37 +1 known silent c.642 p.L214 0.119 pfam_Indolamine_dOase pfam_Indolamine_dOase - no_errors IDO2 HGNC IDO2 169355 genome.wustl.edu 37 8 39862883 39862883 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 39862883 39862883 G A SNP IDO2 ENST00000502986 human ensembl 70_37 +1 known silent c.744 p.R248 1.000 pfam_Indolamine_dOase pfam_Indolamine_dOase - no_errors IDO2 HGNC IER5 51278 genome.wustl.edu 37 1 181058848 181058848 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 181058848 181058848 C T SNP IER5 ENST00000367577 human ensembl 70_37 +1 known silent c.810 p.I270 0.991 pfam_IER pfam_IER - no_errors IER5 HGNC IFIT1B 439996 genome.wustl.edu 37 10 91143935 91143935 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 91143935 91143935 C T SNP IFIT1B ENST00000371809 human ensembl 70_37 +1 known missense c.865 p.H289Y 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT1B HGNC IFITM10 402778 genome.wustl.edu 37 11 1769107 1769107 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 1769107 1769107 C G SNP IFITM10 ENST00000340134 human ensembl 70_37 -1 known missense c.327 p.K109N 1.000 NULL pfam_Interferon-induced_TM_protein - no_errors IFITM10 HGNC IFNGR2 3460 genome.wustl.edu 37 21 34783822 34783822 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 34783822 34783822 C G SNP IFNGR2 ENST00000439213 human ensembl 70_37 +1 known missense c.202 p.Q68E 0.000 NULL NULL - no_errors IFNGR2 HGNC IFRD2 7866 genome.wustl.edu 37 3 50326103 50326103 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 50326103 50326103 C G SNP IFRD2 ENST00000336089 human ensembl 70_37 -1 known missense c.1561 p.E521Q 1.000 NULL pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold - no_errors IFRD2 HGNC IFT172 26160 genome.wustl.edu 37 2 27700992 27700992 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 27700992 27700992 C T SNP IFT172 ENST00000260570 human ensembl 70_37 -1 known missense c.1037 p.R346Q 0.993 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC IFT27 11020 genome.wustl.edu 37 22 37171857 37171857 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 37171857 37171857 G C SNP IFT27 ENST00000476548 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors IFT27 HGNC IFT27 11020 genome.wustl.edu 37 22 37172223 37172223 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 37172223 37172223 C G SNP IFT27 ENST00000476548 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors IFT27 HGNC IFT46 56912 genome.wustl.edu 37 11 118425999 118425999 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 118425999 118425999 G A SNP IFT46 ENST00000264020 human ensembl 70_37 -1 known missense c.377 p.S126F 0.997 pfam_Intraflagellar_transp_cmplxB pfam_Intraflagellar_transp_cmplxB - no_errors IFT46 HGNC IGSF10 285313 genome.wustl.edu 37 3 151154847 151154847 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 151154847 151154847 C G SNP IGSF10 ENST00000282466 human ensembl 70_37 -1 known missense c.7502 p.R2501T 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF10 HGNC IGSF10 285313 genome.wustl.edu 37 3 151166624 151166624 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 151166624 151166624 C G SNP IGSF10 ENST00000282466 human ensembl 70_37 -1 known missense c.1145 p.S382T 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF10 HGNC IKBKB 3551 genome.wustl.edu 37 8 42174305 42174305 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 42174305 42174305 G C SNP IKBKB ENST00000520810 human ensembl 70_37 +1 known missense c.1008 p.L336F 0.966 pfscan_Ubiquitin_supergroup pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ubiquitin_supergroup,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors IKBKB HGNC IL13RA1 3597 genome.wustl.edu 37 X 117925733 117925733 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 117925733 117925733 G A SNP IL13RA1 ENST00000371666 human ensembl 70_37 +1 known silent c.1200 p.K400 1.000 NULL pfam_IL6_recept-bd,superfamily_Fibronectin_type3 - no_errors IL13RA1 HGNC IL17C 27189 genome.wustl.edu 37 16 88705630 88705630 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 88705630 88705630 C T SNP IL17C ENST00000244241 human ensembl 70_37 +1 known missense c.248 p.S83L 0.000 pfam_Interleukin-17 pfam_Interleukin-17,prints_Interleukin-17_chordata - no_errors IL17C HGNC IL1A 3552 genome.wustl.edu 37 2 113535661 113535661 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 113535661 113535661 G A SNP IL1A ENST00000263339 human ensembl 70_37 -1 known missense c.518 p.S173L 0.000 pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_InterleukinIL1A,prints_InterleukinIL1AB pfam_IL1_propep,pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_InterleukinIL1A,prints_InterleukinIL1AB,prints_Interleukin_1 - no_errors IL1A HGNC IL1RAPL2 26280 genome.wustl.edu 37 X 104512091 104512091 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 104512091 104512091 G C SNP IL1RAPL2 ENST00000344799 human ensembl 70_37 +1 known missense c.564 p.W188C 1.000 smart_Ig_sub,pfscan_Ig-like pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_Interleukin-1_rcpt_II - no_errors IL1RAPL2 HGNC IL6ST 3572 genome.wustl.edu 37 5 55265471 55265471 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 55265471 55265471 C G SNP IL6ST ENST00000336909 human ensembl 70_37 -1 known missense c.277 p.D93H 0.040 pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3 pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL6ST HGNC ILK 3611 genome.wustl.edu 37 11 6631824 6631824 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 6631824 6631824 G A SNP ILK ENST00000299421 human ensembl 70_37 +1 known silent c.1341 p.E447 0.999 superfamily_Kinase-like_dom,pirsf_Integrin-linked_kinase pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Integrin-linked_kinase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ILK HGNC IMPAD1 54928 genome.wustl.edu 37 8 57905782 57905782 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 57905782 57905782 G C SNP IMPAD1 ENST00000262644 human ensembl 70_37 -1 known silent c.363 p.L121 0.999 pfam_Inositol_monophosphatase pfam_Inositol_monophosphatase - no_errors IMPAD1 HGNC IMPDH2 3615 genome.wustl.edu 37 3 49061967 49061967 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 49061967 49061967 G A SNP IMPDH2 ENST00000326739 human ensembl 70_37 -1 known missense c.1484 p.S495F 0.999 pfam_IMP_DH_GMPRt,pirsf_IMP_DH pfam_IMP_DH_GMPRt,pfam_Cysta_beta_synth_core,pfam_2Npropane_dOase,pfam_FMN-dep_DH,pfam_NanE,smart_Cysta_beta_synth_core,pirsf_IMP_DH,tigrfam_IMP_DH - no_errors IMPDH2 HGNC IMPG2 50939 genome.wustl.edu 37 3 101023077 101023077 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 101023077 101023077 C T SNP IMPG2 ENST00000193391 human ensembl 70_37 -1 known missense c.414 p.M138I 1.000 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors IMPG2 HGNC INCENP 3619 genome.wustl.edu 37 11 61897557 61897557 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 61897557 61897557 C G SNP INCENP ENST00000394818 human ensembl 70_37 +1 known silent c.558 p.L186 0.028 NULL pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC INPP5D 3635 genome.wustl.edu 37 2 234078039 234078039 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 234078039 234078039 G C SNP INPP5D ENST00000359570 human ensembl 70_37 +1 known missense c.1608 p.K536N 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2 - no_errors INPP5D HGNC INSIG1 3638 genome.wustl.edu 37 7 155090103 155090103 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 155090103 155090103 G C SNP INSIG1 ENST00000340368 human ensembl 70_37 +1 known missense c.108 p.E36D 0.507 NULL pfam_INSIG_fam - no_errors INSIG1 HGNC INSIG2 51141 genome.wustl.edu 37 2 118867466 118867466 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 118867466 118867466 G C SNP INSIG2 ENST00000471186 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors INSIG2 HGNC INTS3 65123 genome.wustl.edu 37 1 153735821 153735821 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 153735821 153735821 C G SNP INTS3 ENST00000318967 human ensembl 70_37 +1 known silent c.1749 p.L583 0.999 NULL pfam_Int_cplx_su3 - no_errors INTS3 HGNC IPO5 3843 genome.wustl.edu 37 13 98664577 98664577 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 98664577 98664577 G A SNP IPO5 ENST00000261574 human ensembl 70_37 +1 known silent c.2187 p.L729 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N - no_errors IPO5 HGNC IPO9 55705 genome.wustl.edu 37 1 201835972 201835972 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 201835972 201835972 C G SNP IPO9 ENST00000361565 human ensembl 70_37 +1 known silent c.1740 p.L580 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO9 HGNC IQCA1P1 392843 genome.wustl.edu 37 7 150890455 150890455 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 150890455 150890455 C G SNP IQCA1P1 ENST00000453127 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors IQCA1P1 HGNC IQGAP1 8826 genome.wustl.edu 37 15 91026761 91026761 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 91026761 91026761 C G SNP IQGAP1 ENST00000268182 human ensembl 70_37 +1 known missense c.3724 p.L1242V 0.995 superfamily_Rho_GTPase_activation_prot,smart_RasGAP pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP1 HGNC IRGC 56269 genome.wustl.edu 37 19 44222731 44222731 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 44222731 44222731 C T SNP IRGC ENST00000244314 human ensembl 70_37 +1 known silent c.21 p.P7 0.000 NULL pfam_Interferon-induced_GTPase - no_errors IRGC HGNC IRGQ 126298 genome.wustl.edu 37 19 44099376 44099376 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 44099376 44099376 C T SNP IRGQ ENST00000422989 human ensembl 70_37 -1 known missense c.115 p.E39K 0.258 NULL NULL - no_errors IRGQ HGNC IRS1 3667 genome.wustl.edu 37 2 227660829 227660829 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 227660829 227660829 C G SNP IRS1 ENST00000305123 human ensembl 70_37 -1 known missense c.2626 p.E876Q 1.000 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS1 HGNC ITFG1 81533 genome.wustl.edu 37 16 47292640 47292640 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 47292640 47292640 G T SNP ITFG1 ENST00000320640 human ensembl 70_37 -1 known missense c.1233 p.D411E 1.000 NULL NULL - no_errors ITFG1 HGNC ITGA1 3672 genome.wustl.edu 37 5 52243212 52243212 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 52243212 52243212 G A SNP ITGA1 ENST00000282588 human ensembl 70_37 +1 known missense c.3416 p.R1139K 0.991 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA1 HGNC ITGA10 8515 genome.wustl.edu 37 1 145538296 145538296 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 145538296 145538296 C T SNP ITGA10 ENST00000369304 human ensembl 70_37 +1 known silent c.2823 p.L941 0.895 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA10 HGNC ITGAL 3683 genome.wustl.edu 37 16 30495167 30495167 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 30495167 30495167 G A SNP ITGAL ENST00000356798 human ensembl 70_37 +1 known missense c.742 p.E248K 0.002 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAL HGNC ITGAL 3683 genome.wustl.edu 37 16 30518142 30518142 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 30518142 30518142 C T SNP ITGAL ENST00000356798 human ensembl 70_37 +1 known missense c.2473 p.P825S 0.166 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAL HGNC ITGAV 3685 genome.wustl.edu 37 2 187465067 187465067 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 187465067 187465067 C T SNP ITGAV ENST00000433736 human ensembl 70_37 +1 known silent c.6 p.L2 0.002 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ITGB4 3691 genome.wustl.edu 37 17 73726397 73726397 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 73726397 73726397 G C SNP ITGB4 ENST00000200181 human ensembl 70_37 +1 known missense c.814 p.D272H 0.998 pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu-4,prints_Integrin_bsu pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,pirsf_Integrin_bsu-4,pfscan_Fibronectin_type3,prints_Integrin_bsu - no_errors ITGB4 HGNC ITGB8 3696 genome.wustl.edu 37 7 20420367 20420367 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 20420367 20420367 G C SNP ITGB8 ENST00000222573 human ensembl 70_37 +1 known missense c.714 p.E238D 0.048 pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu pfam_Integrin_bsu_N,pfam_EGF_extracell,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu - no_errors ITGB8 HGNC ITIH6 347365 genome.wustl.edu 37 X 54784055 54784055 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 54784055 54784055 G A SNP ITIH6 ENST00000218436 human ensembl 70_37 -1 known missense c.2452 p.P818S 0.016 NULL pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC JMJD1C 221037 genome.wustl.edu 37 10 64975041 64975041 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 64975041 64975041 C T SNP JMJD1C ENST00000399262 human ensembl 70_37 -1 known missense c.997 p.D333N 0.999 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC JUP 3728 genome.wustl.edu 37 17 39913930 39913930 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 39913930 39913930 G A SNP JUP ENST00000310706 human ensembl 70_37 -1 known missense c.1880 p.S627L 0.995 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors JUP HGNC KALRN 8997 genome.wustl.edu 37 3 124398421 124398421 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 124398421 124398421 C T SNP KALRN ENST00000462213 human ensembl 70_37 +1 putative silent c.285 p.F95 0.172 NULL NULL - no_errors KALRN HGNC KANK3 256949 genome.wustl.edu 37 19 8399296 8399296 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 8399296 8399296 G A SNP KANK3 ENST00000593649 human ensembl 70_37 -1 known silent c.1335 p.L445 1.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors KANK3 HGNC KANSL2 54934 genome.wustl.edu 37 12 49047778 49047778 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 49047778 49047778 G A SNP KANSL2 ENST00000548701 human ensembl 70_37 -1 known rna NULL NULL 0.047 - - - no_errors KANSL2 HGNC KBTBD12 166348 genome.wustl.edu 37 3 127703143 127703143 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 127703143 127703143 C T SNP KBTBD12 ENST00000476626 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors KBTBD12 HGNC KCNAB2 8514 genome.wustl.edu 37 1 6154520 6154520 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 6154520 6154520 C T SNP KCNAB2 ENST00000378083 human ensembl 70_37 +1 known missense c.707 p.S236L 0.997 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,tigrfam_K_chnl_volt-dep_bsu_KCNAB pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB2,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB2 HGNC KCNG2 26251 genome.wustl.edu 37 18 77659102 77659102 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 77659102 77659102 C T SNP KCNG2 ENST00000316249 human ensembl 70_37 +1 known silent c.687 p.F229 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv - no_errors KCNG2 HGNC KCNH5 27133 genome.wustl.edu 37 14 63246617 63246617 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 63246617 63246617 G A SNP KCNH5 ENST00000322893 human ensembl 70_37 -1 known silent c.1848 p.I616 0.997 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC KCNN3 3782 genome.wustl.edu 37 1 154687435 154687435 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 154687435 154687435 G A SNP KCNN3 ENST00000271915 human ensembl 70_37 -1 known silent c.1746 p.I582 1.000 pfam_CaM-bd_dom,superfamily_CaM-bd_dom pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC KCNQ1 3784 genome.wustl.edu 37 11 2869097 2869097 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 2869097 2869097 G A SNP KCNQ1 ENST00000155840 human ensembl 70_37 +1 known missense c.1895 p.R632K 0.001 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCQN1,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ1 HGNC KCNU1 157855 genome.wustl.edu 37 8 36793338 36793338 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 36793338 36793338 C T SNP KCNU1 ENST00000399881 human ensembl 70_37 +1 known missense c.3350 p.S1117L 0.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC KCTD10 83892 genome.wustl.edu 37 12 109893940 109893940 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 109893940 109893940 C T SNP KCTD10 ENST00000228495 human ensembl 70_37 -1 known missense c.706 p.E236K 1.000 NULL pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD10 HGNC KCTD20 222658 genome.wustl.edu 37 6 36452532 36452532 + Nonsense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 36452532 36452532 G T SNP KCTD20 ENST00000373731 human ensembl 70_37 +1 known nonsense c.898 p.E300* 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD20 HGNC KDELR3 11015 genome.wustl.edu 37 22 38875607 38875607 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 38875607 38875607 C G SNP KDELR3 ENST00000409006 human ensembl 70_37 +1 known missense c.202 p.L68V 1.000 pfam_ER_ret_rcpt,superfamily_Cyt_c_oxidase_su2-like_TM_dom,prints_ER_ret_rcpt pfam_ER_ret_rcpt,superfamily_Cyt_c_oxidase_su2-like_TM_dom,prints_ER_ret_rcpt - no_errors KDELR3 HGNC KDM4B 23030 genome.wustl.edu 37 19 5144297 5144297 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 5144297 5144297 C T SNP KDM4B ENST00000159111 human ensembl 70_37 +1 known silent c.2775 p.V925 0.996 smart_Tudor pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC KDM4B 23030 genome.wustl.edu 37 19 5150378 5150378 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 5150378 5150378 G C SNP KDM4B ENST00000159111 human ensembl 70_37 +1 known missense c.3031 p.E1011Q 1.000 smart_Tudor pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC KDM4C 23081 genome.wustl.edu 37 9 6893199 6893199 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 6893199 6893199 C G SNP KDM4C ENST00000381309 human ensembl 70_37 +1 known silent c.888 p.V296 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC KDM5A 5927 genome.wustl.edu 37 12 419064 419064 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 419064 419064 C T SNP KDM5A ENST00000399788 human ensembl 70_37 -1 known missense c.3283 p.E1095K 1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC KDM5A 5927 genome.wustl.edu 37 12 419125 419125 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 419125 419125 C T SNP KDM5A ENST00000399788 human ensembl 70_37 -1 known silent c.3222 p.L1074 0.682 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC KDM6B 23135 genome.wustl.edu 37 17 7748248 7748248 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 7748248 7748248 G A SNP KDM6B ENST00000571047 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors KDM6B HGNC KIAA0100 9703 genome.wustl.edu 37 17 26962166 26962166 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 26962166 26962166 C T SNP KIAA0100 ENST00000005905 human ensembl 70_37 -1 known silent c.2439 p.R813 1.000 NULL pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC SPIDR 23514 genome.wustl.edu 37 8 48614295 48614295 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 48614295 48614295 C G SNP KIAA0146 ENST00000297423 human ensembl 70_37 +1 known missense c.1786 p.L596V 0.184 NULL NULL - no_errors KIAA0146 HGNC KIAA0196 9897 genome.wustl.edu 37 8 126075818 126075818 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 126075818 126075818 C G SNP KIAA0196 ENST00000318410 human ensembl 70_37 -1 known missense c.1354 p.E452Q 1.000 pfam_WASH_strumpellin pfam_WASH_strumpellin,superfamily_Ig_E-set - no_errors KIAA0196 HGNC KIAA0226 9711 genome.wustl.edu 37 3 197427948 197427948 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 197427948 197427948 G A SNP KIAA0226 ENST00000296343 human ensembl 70_37 -1 known missense c.797 p.S266L 0.001 NULL pfam_Run,smart_Run,pfscan_Run - no_errors KIAA0226 HGNC KIAA0232 9778 genome.wustl.edu 37 4 6858947 6858947 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 6858947 6858947 G C SNP KIAA0232 ENST00000307659 human ensembl 70_37 +1 known missense c.426 p.Q142H 1.000 NULL NULL - no_errors KIAA0232 HGNC KIAA0430 9665 genome.wustl.edu 37 16 15690681 15690681 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 15690681 15690681 G A SNP KIAA0430 ENST00000396368 human ensembl 70_37 -1 known missense c.5098 p.P1700S 1.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC CLUH 23277 genome.wustl.edu 37 17 2607745 2607745 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 2607745 2607745 C T SNP KIAA0664 ENST00000435359 human ensembl 70_37 -1 known missense c.100 p.E34K 1.000 NULL superfamily_GSKIP/TIF31_domain - no_errors KIAA0664 HGNC KIAA0754 643314 genome.wustl.edu 37 1 39877313 39877313 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 39877313 39877313 C G SNP KIAA0754 ENST00000530275 human ensembl 70_37 +1 known missense c.968 p.S323C 1.000 NULL NULL - no_errors KIAA0754 HGNC KIAA0947 23379 genome.wustl.edu 37 5 5464745 5464745 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 5464745 5464745 C T SNP KIAA0947 ENST00000296564 human ensembl 70_37 +1 known silent c.5298 p.L1766 0.997 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC KIAA1239 57495 genome.wustl.edu 37 4 37446158 37446158 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 37446158 37446158 C G SNP KIAA1239 ENST00000309447 human ensembl 70_37 +1 known missense c.2548 p.L850V 1.000 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIAA1239 HGNC KIAA1430 57587 genome.wustl.edu 37 4 186085307 186085307 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 186085307 186085307 C T SNP KIAA1430 ENST00000458385 human ensembl 70_37 -1 novel silent c.1347 p.V449 1.000 NULL NULL - no_errors KIAA1430 HGNC KIAA1614 57710 genome.wustl.edu 37 1 180907775 180907775 + Nonsense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 180907775 180907775 C G SNP KIAA1614 ENST00000367588 human ensembl 70_37 +1 known nonsense c.2846 p.S949* 0.694 NULL NULL - no_errors KIAA1614 HGNC KIAA1671 85379 genome.wustl.edu 37 22 25586705 25586705 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 25586705 25586705 G C SNP KIAA1671 ENST00000358431 human ensembl 70_37 +1 known missense c.5379 p.L1793F 1.000 NULL NULL - no_errors KIAA1671 HGNC KIAA2018 205717 genome.wustl.edu 37 3 113377147 113377147 + Nonsense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 113377147 113377147 C A SNP KIAA2018 ENST00000316407 human ensembl 70_37 -1 known nonsense c.3382 p.E1128* 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors KIAA2018 HGNC KIF12 113220 genome.wustl.edu 37 9 116858726 116858726 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 116858726 116858726 G C SNP KIF12 ENST00000259410 human ensembl 70_37 -1 known missense c.664 p.L222V 0.998 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF12 HGNC KIF13B 23303 genome.wustl.edu 37 8 29023247 29023247 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 29023247 29023247 C G SNP KIF13B ENST00000524189 human ensembl 70_37 -1 known missense c.1201 p.E401Q 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC KIF14 9928 genome.wustl.edu 37 1 200522698 200522698 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 200522698 200522698 C G SNP KIF14 ENST00000367350 human ensembl 70_37 -1 known missense c.4765 p.D1589H 0.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF14 HGNC KIF19 124602 genome.wustl.edu 37 17 72338795 72338795 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 72338795 72338795 G C SNP KIF19 ENST00000389916 human ensembl 70_37 +1 known missense c.258 p.K86N 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF19 HGNC KIF1C 10749 genome.wustl.edu 37 17 4925710 4925710 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 4925710 4925710 G C SNP KIF1C ENST00000320785 human ensembl 70_37 +1 known missense c.2334 p.K778N 1.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1C HGNC KIF27 55582 genome.wustl.edu 37 9 86498737 86498737 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 86498737 86498737 C G SNP KIF27 ENST00000297814 human ensembl 70_37 -1 known silent c.2436 p.L812 0.923 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF27 HGNC KIF27 55582 genome.wustl.edu 37 9 86498868 86498868 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 86498868 86498868 C G SNP KIF27 ENST00000297814 human ensembl 70_37 -1 known missense c.2305 p.E769Q 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF27 HGNC KIF2A 3796 genome.wustl.edu 37 5 61643892 61643892 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 61643892 61643892 C G SNP KIF2A ENST00000407818 human ensembl 70_37 +1 known missense c.177 p.I59M 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2A HGNC KIF2A 3796 genome.wustl.edu 37 5 61668359 61668359 + Missense_Mutation SNP T T G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 61668359 61668359 T G SNP KIF2A ENST00000407818 human ensembl 70_37 +1 known missense c.1741 p.F581V 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2A HGNC KIF3C 3797 genome.wustl.edu 37 2 26178494 26178494 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 26178494 26178494 G A SNP KIF3C ENST00000264712 human ensembl 70_37 -1 known silent c.1686 p.L562 0.972 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3C HGNC KIF4B 285643 genome.wustl.edu 37 5 154395762 154395762 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 154395762 154395762 C T SNP KIF4B ENST00000435029 human ensembl 70_37 +1 known silent c.2343 p.L781 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC KIF5B 3799 genome.wustl.edu 37 10 32308830 32308830 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 32308830 32308830 C G SNP KIF5B ENST00000302418 human ensembl 70_37 -1 known missense c.2262 p.L754F 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5B HGNC KIF5C 3800 genome.wustl.edu 37 2 149829850 149829850 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 149829850 149829850 G T SNP KIF5C ENST00000435030 human ensembl 70_37 +1 known missense c.1118 p.G373V 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5C HGNC KIF9 64147 genome.wustl.edu 37 3 47277039 47277039 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 47277039 47277039 G A SNP KIF9 ENST00000265529 human ensembl 70_37 -1 known silent c.2286 p.I762 0.585 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF9 HGNC KLB 152831 genome.wustl.edu 37 4 39435943 39435943 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 39435943 39435943 G C SNP KLB ENST00000257408 human ensembl 70_37 +1 known silent c.939 p.T313 0.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KLB HGNC KLF6 1316 genome.wustl.edu 37 10 3824162 3824162 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 3824162 3824162 G C SNP KLF6 ENST00000497571 human ensembl 70_37 -1 known missense c.347 p.S116C 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF6 HGNC KLHDC7B 113730 genome.wustl.edu 37 22 50986792 50986792 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 50986792 50986792 G A SNP KLHDC7B ENST00000395676 human ensembl 70_37 +1 known missense c.197 p.R66K 0.000 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7B HGNC KLHDC7B 113730 genome.wustl.edu 37 22 50986843 50986843 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 50986843 50986843 G C SNP KLHDC7B ENST00000395676 human ensembl 70_37 +1 known missense c.248 p.R83T 0.001 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7B HGNC KLHL14 57565 genome.wustl.edu 37 18 30260513 30260513 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 30260513 30260513 C T SNP KLHL14 ENST00000359358 human ensembl 70_37 -1 known missense c.1288 p.G430S 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL14 HGNC KLHL17 339451 genome.wustl.edu 37 1 897278 897278 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 897278 897278 C T SNP KLHL17 ENST00000338591 human ensembl 70_37 +1 known nonsense c.562 p.Q188* 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL17 HGNC KLHL5 51088 genome.wustl.edu 37 4 39088213 39088213 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 39088213 39088213 G A SNP KLHL5 ENST00000359687 human ensembl 70_37 +1 known missense c.1117 p.D373N 1.000 pfam_BACK,smart_BACK pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL5 HGNC KLHL8 57563 genome.wustl.edu 37 4 88116574 88116574 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 88116574 88116574 C G SNP KLHL8 ENST00000273963 human ensembl 70_37 -1 known missense c.118 p.D40H 0.998 superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL8 HGNC KLK12 43849 genome.wustl.edu 37 19 51537307 51537307 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 51537307 51537307 G A SNP KLK12 ENST00000250352 human ensembl 70_37 -1 known missense c.56 p.A19V 0.127 pfam_Peptidase_S1_S6,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 - no_errors KLK12 HGNC KPNA7 402569 genome.wustl.edu 37 7 98790706 98790706 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 98790706 98790706 C G SNP KPNA7 ENST00000327442 human ensembl 70_37 -1 known missense c.572 p.R191T 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_HEAT,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA7 HGNC KRT10 3858 genome.wustl.edu 37 17 38977328 38977328 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 38977328 38977328 C G SNP KRT10 ENST00000269576 human ensembl 70_37 -1 known missense c.669 p.Q223H 0.947 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT10 HGNC KRT19 3880 genome.wustl.edu 37 17 39684455 39684455 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 39684455 39684455 G A SNP KRT19 ENST00000361566 human ensembl 70_37 -1 known silent c.45 p.F15 0.994 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT19 HGNC KRT20 54474 genome.wustl.edu 37 17 39041065 39041065 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 39041065 39041065 C T SNP KRT20 ENST00000167588 human ensembl 70_37 -1 known missense c.373 p.E125K 0.005 pfam_F pfam_F,prints_Keratin_I - no_errors KRT20 HGNC KRT28 162605 genome.wustl.edu 37 17 38950178 38950178 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 38950178 38950178 C T SNP KRT28 ENST00000306658 human ensembl 70_37 -1 known missense c.1099 p.E367K 0.997 pfam_F,prints_Keratin_I pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT28 HGNC KRT28 162605 genome.wustl.edu 37 17 38950189 38950189 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 38950189 38950189 C T SNP KRT28 ENST00000306658 human ensembl 70_37 -1 known missense c.1088 p.R363K 0.317 pfam_F,prints_Keratin_I pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT28 HGNC KRT37 8688 genome.wustl.edu 37 17 39577629 39577629 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 39577629 39577629 C T SNP KRT37 ENST00000225550 human ensembl 70_37 -1 known missense c.1231 p.E411K 0.981 pfam_F pfam_F,prints_Keratin_I - no_errors KRT37 HGNC KRT75 9119 genome.wustl.edu 37 12 52827903 52827903 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 52827903 52827903 G C SNP KRT75 ENST00000252245 human ensembl 70_37 -1 known silent c.186 p.L62 1.000 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC KRT9 3857 genome.wustl.edu 37 17 39728212 39728212 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 39728212 39728212 C G SNP KRT9 ENST00000246662 human ensembl 70_37 -1 known missense c.33 p.L11F 0.000 NULL pfam_F,prints_Keratin_I - no_errors KRT9 HGNC KRTAP20-1 337975 genome.wustl.edu 37 21 31988907 31988907 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 31988907 31988907 C G SNP KRTAP20-1 ENST00000334664 human ensembl 70_37 +1 known missense c.134 p.S45C 0.000 pfam_KRTAP pfam_KRTAP - no_errors KRTAP20-1 HGNC KRTAP5-3 387266 genome.wustl.edu 37 11 1629350 1629350 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 1629350 1629350 G C SNP KRTAP5-3 ENST00000399685 human ensembl 70_37 -1 known missense c.266 p.S89C 0.998 NULL NULL - no_errors KRTAP5-3 HGNC KRTAP9-3 83900 genome.wustl.edu 37 17 39389159 39389159 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 39389159 39389159 G A SNP KRTAP9-3 ENST00000411528 human ensembl 70_37 +1 known missense c.406 p.E136K 0.092 NULL NULL - no_errors KRTAP9-3 HGNC KSR1 8844 genome.wustl.edu 37 17 25877623 25877623 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 25877623 25877623 G C SNP KSR1 ENST00000319524 human ensembl 70_37 +1 known missense c.261 p.Q87H 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC KSR1 8844 genome.wustl.edu 37 17 25919586 25919586 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 25919586 25919586 C T SNP KSR1 ENST00000319524 human ensembl 70_37 +1 known silent c.1233 p.I411 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC KTN1 3895 genome.wustl.edu 37 14 56103923 56103923 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 56103923 56103923 G A SNP KTN1 ENST00000395309 human ensembl 70_37 +1 known silent c.1557 p.Q519 1.000 NULL NULL - no_errors KTN1 HGNC KTN1 3895 genome.wustl.edu 37 14 56103978 56103978 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 56103978 56103978 G C SNP KTN1 ENST00000395309 human ensembl 70_37 +1 known missense c.1612 p.D538H 1.000 NULL NULL - no_errors KTN1 HGNC L3MBTL3 84456 genome.wustl.edu 37 6 130389552 130389552 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 130389552 130389552 G C SNP L3MBTL3 ENST00000361794 human ensembl 70_37 +1 known missense c.1078 p.E360Q 1.000 smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL3 HGNC LAMA2 3908 genome.wustl.edu 37 6 129704375 129704375 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 129704375 129704375 G A SNP LAMA2 ENST00000421865 human ensembl 70_37 +1 known missense c.5068 p.E1690K 1.000 pfam_Laminin_I pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC LAMA3 3909 genome.wustl.edu 37 18 21511047 21511047 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 21511047 21511047 C G SNP LAMA3 ENST00000313654 human ensembl 70_37 +1 known missense c.8458 p.L2820V 0.996 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC LAP3 51056 genome.wustl.edu 37 4 17608478 17608478 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 17608478 17608478 C T SNP LAP3 ENST00000226299 human ensembl 70_37 +1 known silent c.1287 p.V429 0.989 pfam_Peptidase_M17_C pfam_Peptidase_M17_C,pfam_Peptidase_M17_N,prints_Peptidase_M17 - no_errors LAP3 HGNC LARP1 23367 genome.wustl.edu 37 5 154179226 154179226 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 154179226 154179226 C T SNP LARP1 ENST00000336314 human ensembl 70_37 +1 known missense c.1222 p.L408F 1.000 pfscan_Lupus_La_RNA-bd pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC LARP1 23367 genome.wustl.edu 37 5 154190876 154190876 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 154190876 154190876 C G SNP LARP1 ENST00000336314 human ensembl 70_37 +1 known missense c.2682 p.F894L 1.000 smart_DM15 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC LARP6 55323 genome.wustl.edu 37 15 71128790 71128790 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 71128790 71128790 C T SNP LARP6 ENST00000299213 human ensembl 70_37 -1 known nonsense c.255 p.W85* 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd,prints_Lupus_La - no_errors LARP6 HGNC LARS 51520 genome.wustl.edu 37 5 145509623 145509623 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 145509623 145509623 G C SNP LARS ENST00000394434 human ensembl 70_37 -1 known missense c.2586 p.F862L 1.000 pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Leu-tRNA-synth_Ia_arc/euk pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk - no_errors LARS HGNC LATS1 9113 genome.wustl.edu 37 6 150001486 150001486 + Silent SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 150001486 150001486 C A SNP LATS1 ENST00000253339 human ensembl 70_37 -1 known silent c.2118 p.V706 0.995 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors LATS1 HGNC LATS1 9113 genome.wustl.edu 37 6 150001559 150001559 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 150001559 150001559 C G SNP LATS1 ENST00000253339 human ensembl 70_37 -1 known missense c.2045 p.R682T 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors LATS1 HGNC LDB2 9079 genome.wustl.edu 37 4 16590405 16590405 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 16590405 16590405 C G SNP LDB2 ENST00000304523 human ensembl 70_37 -1 known missense c.459 p.M153I 1.000 NULL NULL - no_errors LDB2 HGNC LDHC 3948 genome.wustl.edu 37 11 18451395 18451395 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 18451395 18451395 C T SNP LDHC ENST00000280704 human ensembl 70_37 +1 known missense c.356 p.S119L 0.989 pfam_Lactate/malate_DH_N,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHC HGNC LEMD2 221496 genome.wustl.edu 37 6 33746118 33746118 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 33746118 33746118 C T SNP LEMD2 ENST00000293760 human ensembl 70_37 -1 known missense c.1057 p.V353M 0.998 pfam_Inner-Nucl-membr_MAN1 pfam_Inner-Nucl-membr_MAN1,pfam_LEM,superfamily_LEM-like_dom,smart_LEM,pfscan_LEM - no_errors LEMD2 HGNC LEO1 123169 genome.wustl.edu 37 15 52244147 52244147 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 52244147 52244147 C G SNP LEO1 ENST00000299601 human ensembl 70_37 -1 known missense c.1505 p.R502T 1.000 pfam_Leo1 pfam_Leo1 - no_errors LEO1 HGNC LEPRE1 64175 genome.wustl.edu 37 1 43217983 43217983 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 43217983 43217983 C T SNP LEPRE1 ENST00000236040 human ensembl 70_37 -1 known missense c.1531 p.E511K 0.995 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPRE1 HGNC LGI3 203190 genome.wustl.edu 37 8 22009023 22009023 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 22009023 22009023 G A SNP LGI3 ENST00000306317 human ensembl 70_37 -1 known nonsense c.808 p.R270* 1.000 pfam_EPTP,pfscan_EAR pfam_EPTP,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI3 HGNC LGR6 59352 genome.wustl.edu 37 1 202288144 202288144 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 202288144 202288144 C T SNP LGR6 ENST00000367278 human ensembl 70_37 +1 known nonsense c.2713 p.Q905* 1.000 NULL pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn - no_errors LGR6 HGNC LHFPL4 375323 genome.wustl.edu 37 3 9543896 9543896 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 9543896 9543896 C T SNP LHFPL4 ENST00000287585 human ensembl 70_37 -1 known silent c.743 p.*248 1.000 NULL pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL4 HGNC LHX3 8022 genome.wustl.edu 37 9 139092469 139092469 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 139092469 139092469 G A SNP LHX3 ENST00000371746 human ensembl 70_37 -1 known silent c.225 p.F75 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LHX3 HGNC LIMS1 3987 genome.wustl.edu 37 2 109276125 109276125 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 109276125 109276125 G A SNP LIMS1 ENST00000542845 human ensembl 70_37 +1 known missense c.247 p.E83K 1.000 pfam_Znf_LIM,smart_Znf_LIM,pirsf_PINCH,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pirsf_PINCH,pfscan_Znf_LIM - no_errors LIMS1 HGNC LINC00152 112597 genome.wustl.edu 37 2 112125137 112125137 + RNA SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 112125137 112125137 G T SNP LINC00152 ENST00000432818 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC068491.1 Clone_based_vega_gene LINC00461 645323 genome.wustl.edu 37 5 87962631 87962631 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 87962631 87962631 C T SNP LINC00461 ENST00000500197 human ensembl 70_37 -1 known rna NULL NULL 0.887 - - - no_errors LINC00461 HGNC LINC00469 283982 genome.wustl.edu 37 17 71819832 71819832 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 71819832 71819832 C G SNP LINC00469 ENST00000321800 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00469 HGNC LINC00671 388387 genome.wustl.edu 37 17 41031653 41031653 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 41031653 41031653 C G SNP LINC00671 ENST00000301683 human ensembl 70_37 -1 known rna NULL NULL 0.021 - - - no_errors LINC00671 HGNC LINC00680 0 genome.wustl.edu 37 6 58276103 58276103 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 58276103 58276103 C T SNP LINC00680 ENST00000422882 human ensembl 70_37 -1 known rna NULL NULL 0.427 - - - no_errors LINC00680 HGNC LIPE 3991 genome.wustl.edu 37 19 42931144 42931144 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 42931144 42931144 G A SNP LIPE ENST00000244289 human ensembl 70_37 -1 known missense c.158 p.S53L 0.001 NULL pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase - no_errors LIPE HGNC LLGL2 3993 genome.wustl.edu 37 17 73560506 73560506 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 73560506 73560506 C G SNP LLGL2 ENST00000392550 human ensembl 70_37 +1 known missense c.954 p.I318M 0.942 pfam_LLGL2,superfamily_WD40_repeat_dom,prints_Lethal2_giant pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL2 HGNC LMLN 89782 genome.wustl.edu 37 3 197748331 197748331 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 197748331 197748331 C T SNP LMLN ENST00000330198 human ensembl 70_37 +1 known silent c.1380 p.L460 0.987 pfam_Peptidase_M8 pfam_Peptidase_M8 - no_errors LMLN HGNC LMO3 55885 genome.wustl.edu 37 12 16753787 16753787 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 16753787 16753787 G C SNP LMO3 ENST00000541295 human ensembl 70_37 -1 known nonsense c.62 p.S21* 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMO3 HGNC LNX1 84708 genome.wustl.edu 37 4 54439888 54439888 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 54439888 54439888 G A SNP LNX1 ENST00000263925 human ensembl 70_37 -1 known silent c.282 p.V94 0.994 NULL pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX1 HGNC LOC100049716 100049716 genome.wustl.edu 37 12 752531 752531 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 752531 752531 G A SNP LOC100049716 ENST00000318291 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-218M22.1 Clone_based_vega_gene LOC100128239 100128239 genome.wustl.edu 37 11 133902198 133902198 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 133902198 133902198 C T SNP LOC100128239 ENST00000533922 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-713P17.3 Clone_based_vega_gene LOC100128881 100128881 genome.wustl.edu 37 16 89784167 89784167 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 89784167 89784167 C T SNP LOC100128881 ENST00000562298 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-368I7.2 Clone_based_vega_gene LOC100128881 100128881 genome.wustl.edu 37 16 89784301 89784301 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 89784301 89784301 C G SNP LOC100128881 ENST00000562298 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-368I7.2 Clone_based_vega_gene LOC100130172 100130172 genome.wustl.edu 37 5 137372052 137372052 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 137372052 137372052 C T SNP LOC100130172 ENST00000500267 human ensembl 70_37 +1 known rna NULL NULL 0.039 - - - no_errors RP11-325L7.1 Clone_based_vega_gene LOC100287896 100287896 genome.wustl.edu 37 11 74208931 74208931 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 74208931 74208931 C T SNP LOC100287896 ENST00000526036 human ensembl 70_37 +1 known rna NULL NULL 0.437 - - - no_errors AP001372.2 Clone_based_vega_gene LOC100288570 100288570 genome.wustl.edu 37 2 111144867 111144867 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 111144867 111144867 G A SNP LOC100288570 ENST00000488671 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP13-1039J1.2 Clone_based_vega_gene LOC100507244 100507244 genome.wustl.edu 37 9 72787575 72787575 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 72787575 72787575 C T SNP LOC100507244 ENST00000420573 human ensembl 70_37 -1 known rna NULL NULL 0.022 - - - no_errors RP11-195E11.2 Clone_based_vega_gene LOC100996378 100996378 genome.wustl.edu 37 12 2964607 2964607 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 2964607 2964607 G C SNP LOC100996378 ENST00000382678 human ensembl 70_37 -1 known silent c.99 p.V33 0.034 NULL NULL - no_errors AC005841.1 Clone_based_ensembl_gene LOC100996554 100996554 genome.wustl.edu 37 1 243219215 243219215 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 243219215 243219215 G A SNP LOC100996554 ENST00000418377 human ensembl 70_37 -1 known rna NULL NULL 0.996 - - - no_errors RP11-261C10.3 Clone_based_vega_gene LOC101060787 101060787 genome.wustl.edu 37 22 20710188 20710188 + Silent SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 20710188 20710188 G T SNP LOC101060787 ENST00000434783 human ensembl 70_37 +1 putative silent c.1920 p.S640 0.003 superfamily_Kinase-like_dom pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors AC007731.1 Clone_based_vega_gene LOC146880 146880 genome.wustl.edu 37 17 62758538 62758538 + RNA SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 62758538 62758538 C A SNP LOC146880 ENST00000400873 human ensembl 70_37 -1 known rna NULL NULL 0.992 - - - no_errors hsa-mir-6080 miRBase LOC283335 283335 genome.wustl.edu 37 12 53438312 53438312 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 53438312 53438312 C T SNP LOC283335 ENST00000546793 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-983P16.4 Clone_based_vega_gene LOC400794 400794 genome.wustl.edu 37 1 165551154 165551154 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 165551154 165551154 G C SNP LOC400794 ENST00000416424 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-280O1.2 Clone_based_vega_gene LOC645752 645752 genome.wustl.edu 37 15 78207622 78207622 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 78207622 78207622 C T SNP LOC645752 ENST00000563349 human ensembl 70_37 -1 known rna NULL NULL 0.399 - - - no_errors RP11-114H24.2 Clone_based_vega_gene LOC645752 645752 genome.wustl.edu 37 15 78213762 78213762 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 78213762 78213762 G A SNP LOC645752 ENST00000567226 human ensembl 70_37 -1 known rna NULL NULL 0.050 - - - no_errors RP11-114H24.2 Clone_based_vega_gene LOC84856 84856 genome.wustl.edu 37 10 42971067 42971067 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 42971067 42971067 C T SNP LOC84856 ENST00000332123 human ensembl 70_37 +1 known rna NULL NULL 0.042 - - - no_errors RP11-178A10.1 Clone_based_vega_gene LOXL2 4017 genome.wustl.edu 37 8 23159627 23159627 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 23159627 23159627 G C SNP LOXL2 ENST00000389131 human ensembl 70_37 -1 known silent c.2046 p.T682 0.998 pfam_Lysyl_oxidase,prints_Lysyl_oxidase pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Lysyl_oxidase,prints_Srcr_rcpt - no_errors LOXL2 HGNC LPHN2 23266 genome.wustl.edu 37 1 82416115 82416115 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 82416115 82416115 C T SNP LPHN2 ENST00000370717 human ensembl 70_37 +1 known nonsense c.1441 p.Q481* 1.000 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN2 HGNC LRCH2 57631 genome.wustl.edu 37 X 114357165 114357165 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 114357165 114357165 G C SNP LRCH2 ENST00000317135 human ensembl 70_37 -1 known silent c.2103 p.P701 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold-like,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH2 HGNC LRFN3 79414 genome.wustl.edu 37 19 36430545 36430545 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 36430545 36430545 C T SNP LRFN3 ENST00000246529 human ensembl 70_37 +1 known missense c.218 p.S73F 0.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRFN3 HGNC LRIF1 55791 genome.wustl.edu 37 1 111506249 111506249 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 111506249 111506249 G A SNP LRIF1 ENST00000369763 human ensembl 70_37 -1 known missense c.62 p.S21L 1.000 NULL NULL - no_errors LRIF1 HGNC LRIG3 121227 genome.wustl.edu 37 12 59308076 59308076 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 59308076 59308076 G C SNP LRIG3 ENST00000320743 human ensembl 70_37 -1 known missense c.278 p.S93C 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIG3 HGNC LRRC1 55227 genome.wustl.edu 37 6 53784275 53784276 + RNA INS - - TA TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 53784275 53784276 - TA INS LRRC1 ENST00000490222 human ensembl 70_37 +1 known rna NULL NULL 0.012:0.001 - - - no_errors LRRC1 HGNC LRRC16A 55604 genome.wustl.edu 37 6 25551207 25551207 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 25551207 25551207 C T SNP LRRC16A ENST00000329474 human ensembl 70_37 +1 novel nonsense c.2398 p.R800* 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16A HGNC LRRC23 10233 genome.wustl.edu 37 12 7016621 7016621 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 7016621 7016621 G A SNP LRRC23 ENST00000433346 human ensembl 70_37 +1 putative nonsense c.633 p.W211* 0.025 NULL pfam_Leu-rich_rpt - no_errors LRRC23 HGNC LRRD1 401387 genome.wustl.edu 37 7 91793610 91793610 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 91793610 91793610 G C SNP LRRD1 ENST00000430130 human ensembl 70_37 -1 known missense c.907 p.P303A 0.997 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,pfscan_Death - no_errors LRRD1 HGNC LRRD1 401387 genome.wustl.edu 37 7 91794384 91794384 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 91794384 91794384 C T SNP LRRD1 ENST00000430130 human ensembl 70_37 -1 known missense c.133 p.D45N 0.000 NULL pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,pfscan_Death - no_errors LRRD1 HGNC LRRIQ1 84125 genome.wustl.edu 37 12 85546833 85546833 + Nonsense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 85546833 85546833 C G SNP LRRIQ1 ENST00000393217 human ensembl 70_37 +1 known nonsense c.4451 p.S1484* 0.875 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC LRRK1 79705 genome.wustl.edu 37 15 101569240 101569240 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 101569240 101569240 C T SNP LRRK1 ENST00000388948 human ensembl 70_37 +1 known silent c.2766 p.L922 0.811 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 LRRN2 10446 genome.wustl.edu 37 1 204588128 204588128 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 204588128 204588128 G C SNP LRRN2 ENST00000367175 human ensembl 70_37 -1 known missense c.993 p.F331L 0.998 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,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 LRRN2 HGNC LRRN4 164312 genome.wustl.edu 37 20 6033301 6033301 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 6033301 6033301 C T SNP LRRN4 ENST00000378858 human ensembl 70_37 -1 known missense c.145 p.E49K 0.171 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4 HGNC LRRTM3 347731 genome.wustl.edu 37 10 68686978 68686978 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 68686978 68686978 G C SNP LRRTM3 ENST00000361320 human ensembl 70_37 +1 known missense c.304 p.E102Q 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM3 HGNC LSG1 55341 genome.wustl.edu 37 3 194380810 194380810 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 194380810 194380810 C T SNP LSG1 ENST00000265245 human ensembl 70_37 -1 known missense c.574 p.E192K 0.972 NULL pfam_GTP_binding_domain,prints_GTP_binding_domain - no_errors LSG1 HGNC LSMD1 84316 genome.wustl.edu 37 17 7760387 7760387 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 7760387 7760387 C A SNP LSMD1 ENST00000333775 human ensembl 70_37 -1 known missense c.355 p.D119Y 0.999 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors LSMD1 HGNC LTA 4049 genome.wustl.edu 37 6 31541299 31541299 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 31541299 31541299 C G SNP LTA ENST00000418386 human ensembl 70_37 +1 known silent c.447 p.L149 1.000 pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_beta,prints_TNF_a/b/c pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_beta,prints_TNF_a/b/c - no_errors LTA HGNC LUC7L2 51631 genome.wustl.edu 37 7 139059158 139059158 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 139059158 139059158 C G SNP LUC7L2 ENST00000456182 human ensembl 70_37 +1 known missense c.73 p.L25V 1.000 NULL NULL - no_errors LUC7L2 HGNC LYPD5 284348 genome.wustl.edu 37 19 44302734 44302734 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 44302734 44302734 G A SNP LYPD5 ENST00000377950 human ensembl 70_37 -1 known silent c.390 p.L130 1.000 NULL pfam_LY6_UPAR - no_errors LYPD5 HGNC LYPD6B 130576 genome.wustl.edu 37 2 150071114 150071114 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 150071114 150071114 C G SNP LYPD6B ENST00000280115 human ensembl 70_37 +1 known missense c.514 p.H172D 1.000 NULL NULL - no_errors LYPD6B HGNC LYSMD4 145748 genome.wustl.edu 37 15 100256544 100256544 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 100256544 100256544 C T SNP LYSMD4 ENST00000496108 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors LYSMD4 HGNC LYST 1130 genome.wustl.edu 37 1 235850285 235850285 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 235850285 235850285 G A SNP LYST ENST00000389793 human ensembl 70_37 -1 known silent c.10764 p.V3588 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat 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 LYST HGNC MAATS1 89876 genome.wustl.edu 37 3 119452308 119452308 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 119452308 119452308 G A SNP MAATS1 ENST00000273390 human ensembl 70_37 +1 known silent c.1299 p.L433 0.992 NULL superfamily_S-AdoMet_deCO2ase_core - no_errors MAATS1 HGNC MACF1 23499 genome.wustl.edu 37 1 39815296 39815296 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 39815296 39815296 G C SNP MACF1 ENST00000317713 human ensembl 70_37 +1 known missense c.4776 p.L1592F 0.971 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC MADD 8567 genome.wustl.edu 37 11 47345231 47345231 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 47345231 47345231 G A SNP MADD ENST00000311027 human ensembl 70_37 +1 known missense c.4387 p.D1463N 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC MADD 8567 genome.wustl.edu 37 11 47346268 47346268 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 47346268 47346268 G A SNP MADD ENST00000405573 human ensembl 70_37 +1 novel missense c.1292 p.G431E 0.007 NULL NULL - no_errors MADD HGNC MAGOHB 55110 genome.wustl.edu 37 12 10762468 10762468 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 10762468 10762468 C T SNP MAGOHB ENST00000320756 human ensembl 70_37 -1 known missense c.226 p.D76N 1.000 pfam_Mago_nashi,superfamily_Mago_nashi pfam_Mago_nashi,superfamily_Mago_nashi - no_errors MAGOHB HGNC MALAT1 378938 genome.wustl.edu 37 11 65266716 65266716 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 65266716 65266716 G A SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors MALAT1 HGNC MAMDC4 158056 genome.wustl.edu 37 9 139754394 139754394 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 139754394 139754394 C G SNP MAMDC4 ENST00000445819 human ensembl 70_37 +1 known missense c.3487 p.L1163V 0.000 NULL pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom - no_errors MAMDC4 HGNC MAML2 84441 genome.wustl.edu 37 11 95825810 95825810 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 95825810 95825810 G C SNP MAML2 ENST00000440572 human ensembl 70_37 -1 known nonsense c.1385 p.S462* 0.477 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC MAMLD1 10046 genome.wustl.edu 37 X 149638143 149638143 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 149638143 149638143 C G SNP MAMLD1 ENST00000432680 human ensembl 70_37 +1 known missense c.223 p.H75D 0.460 NULL NULL - no_errors MAMLD1 HGNC MAP2 4133 genome.wustl.edu 37 2 210594923 210594923 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 210594923 210594923 G A SNP MAP2 ENST00000360351 human ensembl 70_37 +1 known silent c.5286 p.L1762 1.000 NULL pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC MAP3K1 4214 genome.wustl.edu 37 5 56177814 56177814 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 56177814 56177814 G A SNP MAP3K1 ENST00000399503 human ensembl 70_37 +1 novel silent c.2787 p.E929 0.992 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC MAP3K5 4217 genome.wustl.edu 37 6 136932511 136932511 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 136932511 136932511 C G SNP MAP3K5 ENST00000359015 human ensembl 70_37 -1 known missense c.2430 p.L810F 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,prints_Ser-Thr/Tyr_kinase_cat_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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC MAP3K5 4217 genome.wustl.edu 37 6 137026254 137026254 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 137026254 137026254 C G SNP MAP3K5 ENST00000359015 human ensembl 70_37 -1 known missense c.606 p.K202N 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC MAP4K2 5871 genome.wustl.edu 37 11 64557881 64557881 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 64557881 64557881 G A SNP MAP4K2 ENST00000294066 human ensembl 70_37 -1 known silent c.2146 p.L716 0.665 pfam_Citron,smart_Citron 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 MAP7D2 256714 genome.wustl.edu 37 X 20029053 20029053 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 20029053 20029053 G C SNP MAP7D2 ENST00000379643 human ensembl 70_37 -1 known silent c.2190 p.L730 0.995 NULL pfam_E-MAP-115 - no_errors MAP7D2 HGNC MAP7D2 256714 genome.wustl.edu 37 X 20043927 20043927 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 20043927 20043927 C T SNP MAP7D2 ENST00000379643 human ensembl 70_37 -1 known missense c.1151 p.R384K 0.600 NULL pfam_E-MAP-115 - no_errors MAP7D2 HGNC MAPK8 5599 genome.wustl.edu 37 10 49639240 49639240 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 49639240 49639240 G A SNP MAPK8 ENST00000360332 human ensembl 70_37 +1 known silent c.1065 p.L355 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK - no_errors MAPK8 HGNC MAPK9 5601 genome.wustl.edu 37 5 179668150 179668150 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 179668150 179668150 G C SNP MAPK9 ENST00000452135 human ensembl 70_37 -1 known missense c.877 p.Q293E 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK - no_errors MAPK9 HGNC MAPKBP1 23005 genome.wustl.edu 37 15 42107876 42107876 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 42107876 42107876 G C SNP MAPKBP1 ENST00000456763 human ensembl 70_37 +1 known missense c.1390 p.E464Q 0.976 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MAPKBP1 HGNC MARCH10 162333 genome.wustl.edu 37 17 60813357 60813357 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 60813357 60813357 G A SNP MARCH10 ENST00000311269 human ensembl 70_37 -1 known silent c.1872 p.F624 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH10 HGNC MARK3 4140 genome.wustl.edu 37 14 103969412 103969412 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 103969412 103969412 G A SNP MARK3 ENST00000429436 human ensembl 70_37 +1 known missense c.2110 p.D704N 0.998 superfamily_Kinase-assoc_KA1 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors MARK3 HGNC MARS 4141 genome.wustl.edu 37 12 57881885 57881885 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 57881885 57881885 C G SNP MARS ENST00000262027 human ensembl 70_37 +1 known missense c.12 p.F4L 1.000 superfamily_Thioredoxin-like_fold pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS HGNC MASP1 5648 genome.wustl.edu 37 3 186947582 186947582 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 186947582 186947582 C T SNP MASP1 ENST00000337774 human ensembl 70_37 -1 known silent c.1407 p.L469 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors MASP1 HGNC MASP1 5648 genome.wustl.edu 37 3 186954180 186954180 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 186954180 186954180 G C SNP MASP1 ENST00000296280 human ensembl 70_37 -1 known silent c.1479 p.L493 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors MASP1 HGNC MAST2 23139 genome.wustl.edu 37 1 46425105 46425105 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 46425105 46425105 C T SNP MAST2 ENST00000361297 human ensembl 70_37 +1 known missense c.548 p.S183L 1.000 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST2 HGNC MAST4 375449 genome.wustl.edu 37 5 66426168 66426168 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 66426168 66426168 G A SNP MAST4 ENST00000404260 human ensembl 70_37 +1 known missense c.1885 p.E629K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST4 HGNC MATN3 4148 genome.wustl.edu 37 2 20205884 20205884 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 20205884 20205884 G C SNP MATN3 ENST00000407540 human ensembl 70_37 -1 known silent c.411 p.L137 0.945 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd,smart_VWF_A,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors MATN3 HGNC MAVS 57506 genome.wustl.edu 37 20 3842980 3842980 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 3842980 3842980 C G SNP MAVS ENST00000428216 human ensembl 70_37 +1 known missense c.545 p.S182C 0.375 NULL NULL - no_errors MAVS HGNC MAVS 57506 genome.wustl.edu 37 20 3846609 3846609 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 3846609 3846609 G C SNP MAVS ENST00000428216 human ensembl 70_37 +1 known missense c.1438 p.E480Q 0.003 NULL NULL - no_errors MAVS HGNC MAX 4149 genome.wustl.edu 37 14 65543311 65543311 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 65543311 65543311 G T SNP MAX ENST00000555932 human ensembl 70_37 -1 novel missense c.107 p.S36Y 1.000 NULL NULL - no_errors MAX HGNC MAZ 4150 genome.wustl.edu 37 16 29819890 29819890 + Splice_Site SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 29819890 29819890 G A SNP MAZ ENST00000219782 human ensembl 70_37 +1 known splice_site c.1108-1 e4-1 1.000 - - - no_errors MAZ HGNC MBD2 8932 genome.wustl.edu 37 18 51729364 51729364 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 51729364 51729364 G C SNP MBD2 ENST00000583046 human ensembl 70_37 -1 known missense c.811 p.L271V 0.204 NULL pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD2 HGNC MBD6 114785 genome.wustl.edu 37 12 57920520 57920520 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 57920520 57920520 G C SNP MBD6 ENST00000355673 human ensembl 70_37 +1 known missense c.1592 p.G531A 1.000 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC MBTD1 54799 genome.wustl.edu 37 17 49279025 49279025 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 49279025 49279025 G A SNP MBTD1 ENST00000415868 human ensembl 70_37 -1 known silent c.1152 p.F384 1.000 smart_Mbt,pfscan_Mbt pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors MBTD1 HGNC MC1R 4157 genome.wustl.edu 37 16 89987153 89987153 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 89987153 89987153 C G SNP MC1R ENST00000555427 human ensembl 70_37 +1 putative missense c.1106 p.S369C 0.005 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MSH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC1R HGNC MCF2 4168 genome.wustl.edu 37 X 138711977 138711977 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 138711977 138711977 C T SNP MCF2 ENST00000370578 human ensembl 70_37 -1 known silent c.750 p.V250 1.000 superfamily_CRAL-TRIO_dom pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2 HGNC MCF2L 23263 genome.wustl.edu 37 13 113556531 113556531 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 113556531 113556531 G C SNP MCF2L ENST00000375608 human ensembl 70_37 +1 known missense c.15 p.W5C 0.999 NULL pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC MCF2L 23263 genome.wustl.edu 37 13 113571437 113571437 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 113571437 113571437 G A SNP MCF2L ENST00000442625 human ensembl 70_37 +1 known missense c.179 p.R60Q 0.001 NULL NULL - no_errors MCF2L HGNC MCHR2 84539 genome.wustl.edu 37 6 100403984 100403984 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 100403984 100403984 C T SNP MCHR2 ENST00000281806 human ensembl 70_37 -1 known missense c.40 p.E14K 0.912 prints_MCH2_receptor pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt - no_errors MCHR2 HGNC MCMDC2 157777 genome.wustl.edu 37 8 67808472 67808472 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 67808472 67808472 G C SNP MCMDC2 ENST00000422365 human ensembl 70_37 +1 known missense c.1347 p.Q449H 0.995 smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase - no_errors MCMDC2 HGNC MDN1 23195 genome.wustl.edu 37 6 90422485 90422485 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 90422485 90422485 C A SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.7239 p.E2413D 1.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC MECOM 2122 genome.wustl.edu 37 3 168819948 168819948 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 168819948 168819948 C T SNP MECOM ENST00000494292 human ensembl 70_37 -1 known missense c.2644 p.E882K 1.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors MECOM HGNC MECOM 2122 genome.wustl.edu 37 3 168834457 168834457 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 168834457 168834457 G C SNP MECOM ENST00000494292 human ensembl 70_37 -1 known missense c.1203 p.C401W 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors MECOM HGNC MED1 5469 genome.wustl.edu 37 17 37565069 37565069 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 37565069 37565069 C G SNP MED1 ENST00000300651 human ensembl 70_37 -1 known missense c.3405 p.Q1135H 0.953 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC MED10 84246 genome.wustl.edu 37 5 6374449 6374449 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 6374449 6374449 G A SNP MED10 ENST00000255764 human ensembl 70_37 -1 known silent c.297 p.I99 0.019 pfam_Mediator_Med10 pfam_Mediator_Med10 - no_errors MED10 HGNC MED17 9440 genome.wustl.edu 37 11 93517725 93517725 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 93517725 93517725 G A SNP MED17 ENST00000251871 human ensembl 70_37 +1 known missense c.46 p.E16K 1.000 pfam_Mediator_Med17 pfam_Mediator_Med17 - no_errors MED17 HGNC MED23 9439 genome.wustl.edu 37 6 131919835 131919835 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 131919835 131919835 C T SNP MED23 ENST00000368058 human ensembl 70_37 -1 known missense c.2305 p.E769K 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC MED29 55588 genome.wustl.edu 37 19 39883109 39883109 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 39883109 39883109 G C SNP MED29 ENST00000315588 human ensembl 70_37 +1 known missense c.285 p.L95F 1.000 pfam_Mediator_Med29_met pfam_Mediator_Med29_met - no_errors MED29 HGNC MED29 55588 genome.wustl.edu 37 19 39884192 39884192 + Splice_Site SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 39884192 39884192 G C SNP MED29 ENST00000315588 human ensembl 70_37 +1 known splice_site c.339-1 e3-1 1.000 - - - no_errors MED29 HGNC MEI1 150365 genome.wustl.edu 37 22 42174800 42174800 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 42174800 42174800 G A SNP MEI1 ENST00000401548 human ensembl 70_37 +1 known missense c.2799 p.M933I 1.000 NULL superfamily_ARM-type_fold - no_errors MEI1 HGNC MEIS1 4211 genome.wustl.edu 37 2 66664996 66664996 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 66664996 66664996 C G SNP MEIS1 ENST00000407092 human ensembl 70_37 +1 known missense c.140 p.S47W 1.000 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors MEIS1 HGNC METTL11B 149281 genome.wustl.edu 37 1 170136706 170136706 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 170136706 170136706 G A SNP METTL11B ENST00000439373 human ensembl 70_37 +1 known silent c.660 p.L220 0.335 pfam_DUF858_MeTrfase_lik,pirsf_DUF858_MeTrfase_lik pfam_DUF858_MeTrfase_lik,pfam_Methyltransf_11,pirsf_DUF858_MeTrfase_lik - no_errors METTL11B HGNC MFHAS1 9258 genome.wustl.edu 37 8 8643422 8643422 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 8643422 8643422 C G SNP MFHAS1 ENST00000521881 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MFHAS1 HGNC MFHAS1 9258 genome.wustl.edu 37 8 8643428 8643428 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 8643428 8643428 C T SNP MFHAS1 ENST00000521881 human ensembl 70_37 -1 known rna NULL NULL 0.096 - - - no_errors MFHAS1 HGNC MFSD2A 84879 genome.wustl.edu 37 1 40431611 40431611 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 40431611 40431611 C T SNP MFSD2A ENST00000372809 human ensembl 70_37 +1 known silent c.678 p.F226 0.026 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD2A HGNC MIR141 406933 genome.wustl.edu 37 12 7073317 7073317 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 7073317 7073317 C G SNP MIR141 ENST00000384975 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR141 HGNC MIR2909 100422969 genome.wustl.edu 37 17 35391067 35391067 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 35391067 35391067 C G SNP MIR2909 ENST00000581942 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors MIR2909 HGNC MIR3614 100500827 genome.wustl.edu 37 17 54968690 54968690 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 54968690 54968690 C T SNP MIR3614 ENST00000581261 human ensembl 70_37 -1 known rna NULL NULL 0.009 - - - no_errors MIR3614 HGNC MKI67 4288 genome.wustl.edu 37 10 129906098 129906098 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 129906098 129906098 G C SNP MKI67 ENST00000368654 human ensembl 70_37 -1 known missense c.4006 p.P1336A 0.001 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC KMT2D 8085 genome.wustl.edu 37 12 49421925 49421925 + Splice_Site SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 49421925 49421925 C T SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known splice_site c.14383-1 e46-1 1.000 - - - no_errors MLL2 HGNC KMT2C 58508 genome.wustl.edu 37 7 151877932 151877932 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 151877932 151877932 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known missense c.7013 p.S2338L 0.717 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC KMT2C 58508 genome.wustl.edu 37 7 151902229 151902229 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 151902229 151902229 G C SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.3923 p.S1308* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC KMT2E 55904 genome.wustl.edu 37 7 104753436 104753436 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 104753436 104753436 C G SNP MLL5 ENST00000257745 human ensembl 70_37 +1 known missense c.5233 p.Q1745E 1.000 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors MLL5 HGNC MMP2 4313 genome.wustl.edu 37 16 55536739 55536739 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 55536739 55536739 C G SNP MMP2 ENST00000219070 human ensembl 70_37 +1 known missense c.1818 p.I606M 0.966 pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin - no_errors MMP2 HGNC MMP2 4313 genome.wustl.edu 37 16 55539267 55539267 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 55539267 55539267 C G SNP MMP2 ENST00000219070 human ensembl 70_37 +1 known missense c.1896 p.F632L 1.000 pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin - no_errors MMP2 HGNC MMP20 9313 genome.wustl.edu 37 11 102477320 102477320 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 102477320 102477320 G C SNP MMP20 ENST00000260228 human ensembl 70_37 -1 known nonsense c.899 p.S300* 0.005 superfamily_Hemopexin/matrixin,pirsf_Pept_M10A_matrix_strom pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP20 HGNC MMP28 79148 genome.wustl.edu 37 17 34100312 34100312 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 34100312 34100312 G A SNP MMP28 ENST00000587639 human ensembl 70_37 -1 known missense c.476 p.S159F 1.000 NULL pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like - no_errors MMP28 HGNC MMP9 4318 genome.wustl.edu 37 20 44640260 44640260 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 44640260 44640260 C A SNP MMP9 ENST00000372330 human ensembl 70_37 +1 known missense c.871 p.P291T 1.000 pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin - no_errors MMP9 HGNC MMP9 4318 genome.wustl.edu 37 20 44640373 44640373 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 44640373 44640373 C T SNP MMP9 ENST00000372330 human ensembl 70_37 +1 known silent c.984 p.F328 1.000 pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin - no_errors MMP9 HGNC MORC2-AS1 150291 genome.wustl.edu 37 22 31318351 31318351 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 31318351 31318351 G A SNP MORC2-AS1 ENST00000422995 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MORC2-AS1 HGNC MORF4L1 10933 genome.wustl.edu 37 15 79186509 79186509 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 79186509 79186509 G A SNP MORF4L1 ENST00000331268 human ensembl 70_37 +1 known missense c.856 p.A286T 1.000 pfam_MRG_dom,pirsf_EAF3/MRG15 pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,pirsf_EAF3/MRG15 - no_errors MORF4L1 HGNC MORF4L1 10933 genome.wustl.edu 37 15 79186545 79186545 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 79186545 79186545 G A SNP MORF4L1 ENST00000331268 human ensembl 70_37 +1 known missense c.892 p.G298R 1.000 pfam_MRG_dom,pirsf_EAF3/MRG15 pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,pirsf_EAF3/MRG15 - no_errors MORF4L1 HGNC MPDZ 8777 genome.wustl.edu 37 9 13224396 13224396 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 13224396 13224396 G A SNP MPDZ ENST00000319217 human ensembl 70_37 -1 known nonsense c.370 p.Q124* 1.000 superfamily_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC MPP3 4356 genome.wustl.edu 37 17 41891626 41891626 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 41891626 41891626 G A SNP MPP3 ENST00000398389 human ensembl 70_37 -1 known silent c.1113 p.Y371 0.991 NULL pfam_Guanylate_kin,pfam_L27_C,pfam_PDZ,pfam_SH3_2,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP3 HGNC MPV17L2 84769 genome.wustl.edu 37 19 18307151 18307151 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 18307151 18307151 C T SNP MPV17L2 ENST00000599612 human ensembl 70_37 +1 known missense c.911 p.S304F 0.021 NULL pfam_Mpv17_PMP22 - no_errors MPV17L2 HGNC MRGPRF 116535 genome.wustl.edu 37 11 68773160 68773160 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 68773160 68773160 G A SNP MRGPRF ENST00000309099 human ensembl 70_37 -1 known silent c.618 p.F206 0.575 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRF HGNC MRI1 84245 genome.wustl.edu 37 19 13875878 13875878 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 13875878 13875878 G A SNP MRI1 ENST00000040663 human ensembl 70_37 +1 known missense c.326 p.R109Q 0.003 pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d - no_errors MRI1 HGNC MRI1 84245 genome.wustl.edu 37 19 13875886 13875886 + Nonsense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 13875886 13875886 G T SNP MRI1 ENST00000040663 human ensembl 70_37 +1 known nonsense c.334 p.E112* 0.970 pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d - no_errors MRI1 HGNC MRPS18B 28973 genome.wustl.edu 37 6 30593386 30593386 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 30593386 30593386 G C SNP MRPS18B ENST00000259873 human ensembl 70_37 +1 known missense c.589 p.D197H 0.000 NULL pfam_Ribosomal_S18,superfamily_Ribosomal_S18 - no_errors MRPS18B HGNC MSN 4478 genome.wustl.edu 37 X 64949447 64949447 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 64949447 64949447 G A SNP MSN ENST00000360270 human ensembl 70_37 +1 known missense c.340 p.D114N 1.000 pirsf_ERM,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,pfscan_FERM_domain pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,pfscan_FERM_domain - no_errors MSN HGNC MSTO1 55154 genome.wustl.edu 37 1 155580427 155580427 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 155580427 155580427 C T SNP MSTO1 ENST00000471209 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors MSTO1 HGNC MTCH1 23787 genome.wustl.edu 37 6 36949389 36949389 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 36949389 36949389 G C SNP MTCH1 ENST00000373627 human ensembl 70_37 -1 known silent c.381 p.L127 1.000 superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors MTCH1 HGNC MTERF 7978 genome.wustl.edu 37 7 91502974 91502974 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 91502974 91502974 G A SNP MTERF ENST00000351870 human ensembl 70_37 -1 known silent c.1134 p.I378 0.001 pfam_Mit_transcrip_term-rel pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERF HGNC MTHFR 4524 genome.wustl.edu 37 1 11863158 11863158 + Missense_Mutation SNP T T C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 11863158 11863158 T C SNP MTHFR ENST00000376583 human ensembl 70_37 -1 known missense c.139 p.R47G 0.000 NULL pfam_Mehydrof_redctse,tigrfam_Fadh2_euk - no_errors MTHFR HGNC MTMR1 8776 genome.wustl.edu 37 X 149905769 149905769 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 149905769 149905769 C T SNP MTMR1 ENST00000445323 human ensembl 70_37 +1 known missense c.1322 p.S441F 0.993 smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase - no_errors MTMR1 HGNC MTMR11 10903 genome.wustl.edu 37 1 149906184 149906184 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 149906184 149906184 G C SNP MTMR11 ENST00000439741 human ensembl 70_37 -1 known missense c.583 p.L195V 1.000 NULL pfam_Myotubularin_assoc,pfam_Myotub-related - no_errors MTMR11 HGNC MTMR14 64419 genome.wustl.edu 37 3 9743521 9743521 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 9743521 9743521 C T SNP MTMR14 ENST00000296003 human ensembl 70_37 +1 known missense c.1817 p.S606L 0.979 NULL NULL - no_errors MTMR14 HGNC MTOR 2475 genome.wustl.edu 37 1 11174382 11174382 + Silent SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 11174382 11174382 C A SNP MTOR ENST00000361445 human ensembl 70_37 -1 known silent c.7293 p.L2431 0.990 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC MTUS2 23281 genome.wustl.edu 37 13 30071452 30071452 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 30071452 30071452 G C SNP MTUS2 ENST00000431530 human ensembl 70_37 +1 known missense c.3687 p.K1229N 0.977 NULL NULL - no_errors MTUS2 HGNC MUC16 94025 genome.wustl.edu 37 19 9089380 9089380 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 9089380 9089380 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.2435 p.S812F 0.001 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC16 94025 genome.wustl.edu 37 19 9091665 9091665 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 9091665 9091665 C T SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known silent c.150 p.V50 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC16 94025 genome.wustl.edu 37 19 9091809 9091809 + Silent SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 9091809 9091809 C A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known silent c.6 p.L2 0.009 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC17 140453 genome.wustl.edu 37 7 100675832 100675832 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 100675832 100675832 G A SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known missense c.1135 p.E379K 0.012 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC MUC17 140453 genome.wustl.edu 37 7 100686128 100686128 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 100686128 100686128 G C SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known missense c.11431 p.E3811Q 0.000 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC MUC2 4583 genome.wustl.edu 37 11 1082321 1082321 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 1082321 1082321 G A SNP MUC2 ENST00000441003 human ensembl 70_37 +1 known silent c.1776 p.K592 0.069 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC MUC4 4585 genome.wustl.edu 37 3 195508585 195508585 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 195508585 195508585 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known nonsense c.9866 p.S3289* 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC4 4585 genome.wustl.edu 37 3 195514370 195514370 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 195514370 195514370 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.4081 p.L1361V 0.015 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC4 4585 genome.wustl.edu 37 3 195515603 195515603 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 195515603 195515603 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.2848 p.P950A 0.107 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC5B 727897 genome.wustl.edu 37 11 1263912 1263912 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 1263912 1263912 C T SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known silent c.5811 p.P1937 0.096 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC MUS81 80198 genome.wustl.edu 37 11 65632706 65632706 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 65632706 65632706 G A SNP MUS81 ENST00000308110 human ensembl 70_37 +1 known missense c.1417 p.E473K 0.955 NULL pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_DNA-dir_DNA_pol_X_beta-like_N,smart_ERCC4_domain - no_errors MUS81 HGNC MVK 4598 genome.wustl.edu 37 12 110013877 110013877 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 110013877 110013877 C G SNP MVK ENST00000228510 human ensembl 70_37 +1 known silent c.153 p.L51 0.844 superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_Mev_gal_kin pfam_GHMP_kinase_N_dom,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Mev_gal_kin - no_errors MVK HGNC MYBPC2 4606 genome.wustl.edu 37 19 50957558 50957558 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 50957558 50957558 C T SNP MYBPC2 ENST00000357701 human ensembl 70_37 +1 known missense c.1946 p.S649L 0.378 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 MYBPC2 HGNC MYCBP2 23077 genome.wustl.edu 37 13 77670497 77670497 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 77670497 77670497 G A SNP MYCBP2 ENST00000407578 human ensembl 70_37 -1 known missense c.9904 p.R3302C 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC MYCBP2-AS1 100874212 genome.wustl.edu 37 13 77651193 77651193 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 77651193 77651193 C T SNP MYCBP2-AS1 ENST00000596342 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MYCBP2-AS1 HGNC MYF5 4617 genome.wustl.edu 37 12 81111256 81111256 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 81111256 81111256 G C SNP MYF5 ENST00000228644 human ensembl 70_37 +1 known silent c.414 p.L138 1.000 superfamily_HLH_dom,smart_HLH_dom pfam_Basic,pfam_Myf5,pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,smart_HLH_dom,pfscan_HLH_dom - no_errors MYF5 HGNC MYH1 4619 genome.wustl.edu 37 17 10408270 10408270 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 10408270 10408270 C G SNP MYH1 ENST00000226207 human ensembl 70_37 -1 known missense c.2548 p.E850Q 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC MYH13 8735 genome.wustl.edu 37 17 10227404 10227404 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 10227404 10227404 C G SNP MYH13 ENST00000252172 human ensembl 70_37 -1 known missense c.2869 p.D957H 1.000 NULL 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 MYH13 HGNC MYH13 8735 genome.wustl.edu 37 17 10263307 10263307 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 10263307 10263307 C A SNP MYH13 ENST00000252172 human ensembl 70_37 -1 known missense c.615 p.K205N 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom 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 MYH13 HGNC MYH15 22989 genome.wustl.edu 37 3 108118027 108118027 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 108118027 108118027 C G SNP MYH15 ENST00000273353 human ensembl 70_37 -1 known missense c.4884 p.K1628N 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC MYH15 22989 genome.wustl.edu 37 3 108149726 108149726 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 108149726 108149726 C G SNP MYH15 ENST00000273353 human ensembl 70_37 -1 known missense c.3325 p.E1109Q 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC MYH2 4620 genome.wustl.edu 37 17 10429926 10429926 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 10429926 10429926 C G SNP MYH2 ENST00000245503 human ensembl 70_37 -1 known missense c.4177 p.E1393Q 1.000 pfam_Myosin_tail,superfamily_Ribosomal_L29 pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC MYH2 4620 genome.wustl.edu 37 17 10435166 10435166 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 10435166 10435166 G A SNP MYH2 ENST00000245503 human ensembl 70_37 -1 known silent c.2481 p.F827 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC MYH4 4622 genome.wustl.edu 37 17 10357178 10357178 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 10357178 10357178 C T SNP MYH4 ENST00000255381 human ensembl 70_37 -1 known missense c.2716 p.E906K 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC MYH7 4625 genome.wustl.edu 37 14 23902431 23902431 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 23902431 23902431 C G SNP MYH7 ENST00000355349 human ensembl 70_37 -1 known silent c.207 p.V69 1.000 pfam_Myosin_N pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC MYH8 4626 genome.wustl.edu 37 17 10312482 10312482 + Splice_Site SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 10312482 10312482 C G SNP MYH8 ENST00000403437 human ensembl 70_37 -1 known splice_site c.1898-1 e15-1 1.000 - - - no_errors MYH8 HGNC MYH9 4627 genome.wustl.edu 37 22 36691727 36691727 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 36691727 36691727 G C SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known silent c.3309 p.L1103 0.648 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC MYLK 4638 genome.wustl.edu 37 3 123419273 123419273 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 123419273 123419273 C T SNP MYLK ENST00000360304 human ensembl 70_37 -1 known silent c.3042 p.L1014 0.000 NULL pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors MYLK HGNC MYO1E 4643 genome.wustl.edu 37 15 59430493 59430493 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 59430493 59430493 G A SNP MYO1E ENST00000288235 human ensembl 70_37 -1 known nonsense c.3154 p.Q1052* 1.000 superfamily_SH3_domain,pfscan_SH3_domain pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1E HGNC MYO5A 4644 genome.wustl.edu 37 15 52632455 52632455 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 52632455 52632455 G T SNP MYO5A ENST00000358212 human ensembl 70_37 -1 known missense c.4177 p.P1393T 0.999 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC MYT1L 23040 genome.wustl.edu 37 2 1844769 1844769 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 1844769 1844769 G A SNP MYT1L ENST00000471668 human ensembl 70_37 -1 known rna NULL NULL 0.056 - - - no_errors MYT1L HGNC NAALAD2 10003 genome.wustl.edu 37 11 89883683 89883683 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 89883683 89883683 G A SNP NAALAD2 ENST00000534061 human ensembl 70_37 +1 known missense c.517 p.E173K 1.000 pfam_Protease-assoc_domain pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALAD2 HGNC NAALAD2 10003 genome.wustl.edu 37 11 89883714 89883714 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 89883714 89883714 G C SNP NAALAD2 ENST00000534061 human ensembl 70_37 +1 known missense c.548 p.G183A 0.936 pfam_Protease-assoc_domain pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALAD2 HGNC NAB2 4665 genome.wustl.edu 37 12 57485124 57485124 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 57485124 57485124 G A SNP NAB2 ENST00000300131 human ensembl 70_37 +1 known silent c.300 p.Q100 1.000 pfam_Nab_N,superfamily_SAM/pointed pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed - no_errors NAB2 HGNC NAP1L1 4673 genome.wustl.edu 37 12 76462755 76462755 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 76462755 76462755 C G SNP NAP1L1 ENST00000261182 human ensembl 70_37 -1 known missense c.37 p.D13H 1.000 NULL pfam_NAP_family - no_errors NAP1L1 HGNC NAV3 89795 genome.wustl.edu 37 12 78582497 78582497 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 78582497 78582497 G C SNP NAV3 ENST00000397909 human ensembl 70_37 +1 known missense c.5995 p.E1999Q 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC NBAS 51594 genome.wustl.edu 37 2 15427303 15427303 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 15427303 15427303 G C SNP NBAS ENST00000281513 human ensembl 70_37 -1 known missense c.5032 p.L1678V 0.991 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC NBEA 26960 genome.wustl.edu 37 13 36239230 36239230 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 36239230 36239230 C G SNP NBEA ENST00000310336 human ensembl 70_37 +1 known missense c.8308 p.P2770A 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC NBEAL1 65065 genome.wustl.edu 37 2 203948108 203948108 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 203948108 203948108 C G SNP NBEAL1 ENST00000449802 human ensembl 70_37 +1 known missense c.851 p.S284C 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC NBEAL2 23218 genome.wustl.edu 37 3 47033349 47033349 + Silent SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 47033349 47033349 G T SNP NBEAL2 ENST00000450053 human ensembl 70_37 +1 known silent c.945 p.L315 0.999 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC HAND2-AS1 79804 genome.wustl.edu 37 4 174448572 174448572 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 174448572 174448572 C T SNP NBLA00301 ENST00000512099 human ensembl 70_37 +1 known rna NULL NULL 0.994 - - - no_errors RP11-471J12.1 Clone_based_vega_gene NBPF20 100288142 genome.wustl.edu 37 1 148341855 148341855 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 148341855 148341855 G A SNP NBPF20 ENST00000369202 human ensembl 70_37 -1 known silent c.718 p.L240 0.028 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF20 HGNC NBPF8 728841 genome.wustl.edu 37 1 144615114 144615114 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 144615114 144615114 C T SNP NBPF8 ENST00000421407 human ensembl 70_37 +1 known rna NULL NULL 0.618 - - - no_errors NBPF8 HGNC NCAPD2 9918 genome.wustl.edu 37 12 6638001 6638001 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 6638001 6638001 C G SNP NCAPD2 ENST00000315579 human ensembl 70_37 +1 known missense c.3456 p.F1152L 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 - no_errors NCAPD2 HGNC NCF4 4689 genome.wustl.edu 37 22 37260991 37260991 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 37260991 37260991 G C SNP NCF4 ENST00000397147 human ensembl 70_37 +1 known missense c.148 p.G50R 0.996 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain,prints_NCF_P40,prints_p67phox - no_errors NCF4 HGNC NCL 4691 genome.wustl.edu 37 2 232321788 232321788 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 232321788 232321788 C G SNP NCL ENST00000322723 human ensembl 70_37 -1 known missense c.1495 p.E499Q 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors NCL HGNC NCOA2 10499 genome.wustl.edu 37 8 71036975 71036975 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 71036975 71036975 G A SNP NCOA2 ENST00000452400 human ensembl 70_37 -1 known nonsense c.4042 p.Q1348* 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_dom - no_errors NCOA2 HGNC NCOA5 57727 genome.wustl.edu 37 20 44695767 44695767 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 44695767 44695767 C T SNP NCOA5 ENST00000290231 human ensembl 70_37 -1 known missense c.556 p.E186K 1.000 NULL superfamily_Anticodon-bd - no_errors NCOA5 HGNC NCOR1 9611 genome.wustl.edu 37 17 15978916 15978916 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 15978916 15978916 C T SNP NCOR1 ENST00000268712 human ensembl 70_37 -1 known missense c.3602 p.R1201K 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC NDRG3 57446 genome.wustl.edu 37 20 35350135 35350135 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 35350135 35350135 C T SNP NDRG3 ENST00000349004 human ensembl 70_37 -1 known missense c.4 p.D2N 1.000 NULL pfam_Ndr,pfam_AB_hydrolase_1 - no_errors NDRG3 HGNC NDRG4 65009 genome.wustl.edu 37 16 58538089 58538089 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 58538089 58538089 C G SNP NDRG4 ENST00000394282 human ensembl 70_37 +1 known missense c.315 p.F105L 0.150 pfam_Ndr pfam_Ndr - no_errors NDRG4 HGNC NDST2 8509 genome.wustl.edu 37 10 75562434 75562434 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 75562434 75562434 C T SNP NDST2 ENST00000309979 human ensembl 70_37 -1 known missense c.2524 p.E842K 0.814 pfam_Sulfotransferase_dom pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST2 HGNC NDUFA11 126328 genome.wustl.edu 37 19 5894779 5894779 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 5894779 5894779 C G SNP NDUFA11 ENST00000308961 human ensembl 70_37 -1 known missense c.400 p.E134Q 0.020 NULL pfam_Tim17/Tim22/Tim23/PMP24 - no_errors NDUFA11 HGNC NDUFS2 4720 genome.wustl.edu 37 1 161179399 161179399 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 161179399 161179399 G A SNP NDUFS2 ENST00000473321 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NDUFS2 HGNC NEK9 91754 genome.wustl.edu 37 14 75567840 75567840 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 75567840 75567840 C T SNP NEK9 ENST00000238616 human ensembl 70_37 -1 known silent c.1857 p.L619 0.999 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens pfam_Prot_kinase_cat_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK9 HGNC NSMF 26012 genome.wustl.edu 37 9 140347279 140347279 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 140347279 140347279 G A SNP NELF ENST00000371482 human ensembl 70_37 -1 known missense c.32 p.S11F 0.000 NULL NULL - no_errors NELF HGNC NELL2 4753 genome.wustl.edu 37 12 44915918 44915918 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 44915918 44915918 C T SNP NELL2 ENST00000437801 human ensembl 70_37 -1 known silent c.2190 p.E730 1.000 smart_VWF_C,pfscan_VWF_C pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC NEMF 9147 genome.wustl.edu 37 14 50312951 50312951 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 50312951 50312951 G C SNP NEMF ENST00000298310 human ensembl 70_37 -1 known silent c.264 p.V88 1.000 pfam_Fibro-bd_N pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom - no_errors NEMF HGNC NFAT5 10725 genome.wustl.edu 37 16 69681372 69681372 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 69681372 69681372 G A SNP NFAT5 ENST00000432919 human ensembl 70_37 +1 known missense c.695 p.R232Q 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC NFATC2 4773 genome.wustl.edu 37 20 50179163 50179163 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 50179163 50179163 C T SNP NFATC2 ENST00000414705 human ensembl 70_37 -1 known silent c.6 p.Q2 1.000 NULL pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC NFATC3 4775 genome.wustl.edu 37 16 68224713 68224713 + Nonsense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 68224713 68224713 C G SNP NFATC3 ENST00000346183 human ensembl 70_37 +1 known nonsense c.2141 p.S714* 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC3 HGNC NFIA 4774 genome.wustl.edu 37 1 61554147 61554147 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 61554147 61554147 C A SNP NFIA ENST00000371189 human ensembl 70_37 +1 known missense c.489 p.D163E 1.000 pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIA HGNC NFIA 4774 genome.wustl.edu 37 1 61554153 61554153 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 61554153 61554153 C T SNP NFIA ENST00000371189 human ensembl 70_37 +1 known silent c.495 p.L165 0.997 pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIA HGNC NFIA 4774 genome.wustl.edu 37 1 61554154 61554154 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 61554154 61554154 C T SNP NFIA ENST00000371189 human ensembl 70_37 +1 known missense c.496 p.R166C 1.000 pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIA HGNC NFKBID 84807 genome.wustl.edu 37 19 36380797 36380797 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 36380797 36380797 C T SNP NFKBID ENST00000352614 human ensembl 70_37 -1 known missense c.1339 p.E447K 0.996 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors NFKBID HGNC NHLRC1 378884 genome.wustl.edu 37 6 18121697 18121697 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 18121697 18121697 C T SNP NHLRC1 ENST00000340650 human ensembl 70_37 -1 known missense c.1141 p.D381N 1.000 pfscan_NHL_repeat_subgr smart_Znf_RING,pfscan_NHL_repeat_subgr,pfscan_Znf_RING - no_errors NHLRC1 HGNC NINL 22981 genome.wustl.edu 37 20 25459789 25459789 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 25459789 25459789 C T SNP NINL ENST00000278886 human ensembl 70_37 -1 known silent c.1971 p.E657 0.988 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NINL HGNC NKX2-6 137814 genome.wustl.edu 37 8 23560158 23560158 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 23560158 23560158 C G SNP NKX2-6 ENST00000418222 human ensembl 70_37 -1 known missense c.466 p.V156L 0.001 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors NKX2-6 HGNC NLN 57486 genome.wustl.edu 37 5 65084259 65084259 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 65084259 65084259 G A SNP NLN ENST00000380985 human ensembl 70_37 +1 known missense c.1273 p.D425N 1.000 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors NLN HGNC NLRC3 197358 genome.wustl.edu 37 16 3602271 3602271 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 3602271 3602271 C T SNP NLRC3 ENST00000448023 human ensembl 70_37 -1 known silent c.2418 p.K806 0.999 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC NLRP11 204801 genome.wustl.edu 37 19 56307519 56307519 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 56307519 56307519 G A SNP NLRP11 ENST00000443188 human ensembl 70_37 -1 known missense c.2269 p.P757S 0.000 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 NLRP11 HGNC NLRP6 171389 genome.wustl.edu 37 11 281517 281517 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 281517 281517 G C SNP NLRP6 ENST00000312165 human ensembl 70_37 +1 known missense c.1783 p.E595Q 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP6 HGNC NLRP6 171389 genome.wustl.edu 37 11 281661 281661 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 281661 281661 G A SNP NLRP6 ENST00000312165 human ensembl 70_37 +1 known missense c.1927 p.E643K 0.001 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP6 HGNC NLRP9 338321 genome.wustl.edu 37 19 56226588 56226588 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 56226588 56226588 C G SNP NLRP9 ENST00000332836 human ensembl 70_37 -1 known missense c.2334 p.L778F 0.000 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 NLRP9 HGNC NMNAT3 349565 genome.wustl.edu 37 3 139280016 139280016 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 139280016 139280016 C G SNP NMNAT3 ENST00000296202 human ensembl 70_37 -1 known missense c.595 p.E199Q 0.997 pfam_Cytidylyltransf,tigrfam_NAMN_adtrnsfrase pfam_Cytidylyltransf,tigrfam_NAMN_adtrnsfrase - no_errors NMNAT3 HGNC NMRAL1 57407 genome.wustl.edu 37 16 4511898 4511898 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 4511898 4511898 G A SNP NMRAL1 ENST00000283429 human ensembl 70_37 -1 known silent c.783 p.F261 1.000 NULL pfam_NmrA,pfam_DH_sc/Rdtase_SDR,pfam_RCK_N - no_errors NMRAL1 HGNC NOA1 84273 genome.wustl.edu 37 4 57829628 57829628 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 57829628 57829628 C G SNP NOA1 ENST00000264230 human ensembl 70_37 -1 known missense c.2085 p.K695N 0.000 NULL NULL - no_errors NOA1 HGNC NOM1 64434 genome.wustl.edu 37 7 156755773 156755773 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 156755773 156755773 G C SNP NOM1 ENST00000275820 human ensembl 70_37 +1 known missense c.1815 p.Q605H 0.605 NULL pfam_Initiation_fac_eIF4g_MI,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors NOM1 HGNC NOM1 64434 genome.wustl.edu 37 7 156759087 156759087 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 156759087 156759087 G C SNP NOM1 ENST00000275820 human ensembl 70_37 +1 known missense c.2157 p.R719S 1.000 pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI pfam_Initiation_fac_eIF4g_MI,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors NOM1 HGNC NOP10 55505 genome.wustl.edu 37 15 34634298 34634298 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 34634298 34634298 C G SNP NOP10 ENST00000328848 human ensembl 70_37 -1 known silent c.66 p.P22 0.000 pfam_H/ACA_rnp_Nop10 pfam_H/ACA_rnp_Nop10 - no_errors NOP10 HGNC NOS3 4846 genome.wustl.edu 37 7 150709545 150709545 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 150709545 150709545 G A SNP NOS3 ENST00000297494 human ensembl 70_37 +1 known missense c.3091 p.D1031N 0.997 pfam_OxRdtase_FAD/NAD-bd,pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC NOSTRIN 115677 genome.wustl.edu 37 2 169699594 169699594 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 169699594 169699594 G A SNP NOSTRIN ENST00000444448 human ensembl 70_37 +1 known silent c.597 p.L199 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_FCH,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,prints_SH3_domain - no_errors NOSTRIN HGNC NOTCH4 4855 genome.wustl.edu 37 6 32163526 32163526 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 32163526 32163526 G C SNP NOTCH4 ENST00000375023 human ensembl 70_37 -1 known silent c.5700 p.L1900 0.000 pirsf_Notch pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom - no_errors NOTCH4 HGNC NOXRED1 122945 genome.wustl.edu 37 14 77872322 77872322 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 77872322 77872322 G C SNP NOXRED1 ENST00000380835 human ensembl 70_37 -1 known missense c.839 p.S280C 0.003 NULL pfam_NADP_OxRdtase_F420 - no_errors NOXRED1 HGNC NPAP1 23742 genome.wustl.edu 37 15 24922056 24922056 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 24922056 24922056 C G SNP NPAP1 ENST00000329468 human ensembl 70_37 +1 known missense c.1042 p.R348G 0.000 NULL NULL - no_errors NPAP1 HGNC NPAS3 64067 genome.wustl.edu 37 14 34268968 34268968 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 34268968 34268968 G A SNP NPAS3 ENST00000356141 human ensembl 70_37 +1 known silent c.1455 p.E485 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pfscan_PAS,pfscan_HLH_dom - no_errors NPAS3 HGNC NPC1L1 29881 genome.wustl.edu 37 7 44578916 44578916 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 44578916 44578916 G A SNP NPC1L1 ENST00000289547 human ensembl 70_37 -1 known silent c.1080 p.V360 0.000 NULL pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC NPFFR2 10886 genome.wustl.edu 37 4 73013316 73013316 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 73013316 73013316 C G SNP NPFFR2 ENST00000308744 human ensembl 70_37 +1 known silent c.1356 p.L452 0.023 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPFF_rcpt_2,prints_NPFF_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPFFR2 HGNC NPIPP1 100874381 genome.wustl.edu 37 16 15222200 15222200 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 15222200 15222200 C G SNP NPIPP1 ENST00000358815 human ensembl 70_37 -1 known missense c.884 p.G295A 1.000 NULL pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom - no_errors NPIPP1 HGNC NPM1 4869 genome.wustl.edu 37 5 170827185 170827185 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 170827185 170827185 G A SNP NPM1 ENST00000296930 human ensembl 70_37 +1 known missense c.553 p.E185K 1.000 pfam_Nucleoplasmin pfam_Nucleoplasmin,superfamily_Nucleoplasmin_core - no_errors NPM1 HGNC NPR1 4881 genome.wustl.edu 37 1 153657530 153657530 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 153657530 153657530 G A SNP NPR1 ENST00000368680 human ensembl 70_37 +1 known silent c.1575 p.R525 1.000 smart_Tyr_kinase_cat_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase,prints_Ntpep_rcpt - no_errors NPR1 HGNC NPR1 4881 genome.wustl.edu 37 1 153658665 153658665 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 153658665 153658665 G C SNP NPR1 ENST00000368680 human ensembl 70_37 +1 known missense c.1747 p.E583Q 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase,prints_Ntpep_rcpt - no_errors NPR1 HGNC NPSR1 387129 genome.wustl.edu 37 7 34889232 34889232 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 34889232 34889232 G A SNP NPSR1 ENST00000360581 human ensembl 70_37 +1 known missense c.1081 p.E361K 0.985 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Vasoprsn_rcpt - no_errors NPSR1 HGNC NPTX1 4884 genome.wustl.edu 37 17 78445576 78445576 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 78445576 78445576 G A SNP NPTX1 ENST00000306773 human ensembl 70_37 -1 known missense c.1033 p.H345Y 1.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTX1 HGNC NRAP 4892 genome.wustl.edu 37 10 115364439 115364439 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 115364439 115364439 G C SNP NRAP ENST00000369358 human ensembl 70_37 -1 known missense c.4180 p.H1394D 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC NRD1 4898 genome.wustl.edu 37 1 52277771 52277771 + Splice_Site SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 52277771 52277771 C T SNP NRD1 ENST00000354831 human ensembl 70_37 -1 known splice_site c.1879-1 e17-1 1.000 - - - no_errors NRD1 HGNC NRM 11270 genome.wustl.edu 37 6 30655897 30655897 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 30655897 30655897 G C SNP NRM ENST00000462857 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors NRM HGNC NRP1 8829 genome.wustl.edu 37 10 33545282 33545282 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 33545282 33545282 G A SNP NRP1 ENST00000265371 human ensembl 70_37 -1 known missense c.776 p.S259L 0.997 pfam_CUB,superfamily_CUB,smart_CUB,pirsf_Neuropilin,pfscan_CUB pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,pirsf_Neuropilin,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom,prints_MAM_dom - no_errors NRP1 HGNC NRXN1 9378 genome.wustl.edu 37 2 50733678 50733678 + Nonsense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 50733678 50733678 C A SNP NRXN1 ENST00000402717 human ensembl 70_37 -1 known nonsense c.2428 p.G810* 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC NSG1 27065 genome.wustl.edu 37 4 4411304 4411304 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 4411304 4411304 C G SNP NSG1 ENST00000397958 human ensembl 70_37 +1 known missense c.251 p.S84C 1.000 pfam_D1-dopamine_rcpt_interact,pirsf_D1-dopamine_rcpt_interact pfam_D1-dopamine_rcpt_interact,pirsf_D1-dopamine_rcpt_interact - no_errors NSG1 Uniprot_genename NSMCE4A 54780 genome.wustl.edu 37 10 123719111 123719111 + Splice_Site SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 123719111 123719111 C G SNP NSMCE4A ENST00000369023 human ensembl 70_37 -1 known splice_site c.989-1 e9-1 1.000 - - - no_errors NSMCE4A HGNC NSRP1 84081 genome.wustl.edu 37 17 28506219 28506219 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 28506219 28506219 G C SNP NSRP1 ENST00000247026 human ensembl 70_37 +1 known missense c.412 p.D138H 1.000 pfam_DUF2040 pfam_DUF2040 - no_errors NSRP1 HGNC NSUN5 55695 genome.wustl.edu 37 7 72721671 72721671 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 72721671 72721671 C T SNP NSUN5 ENST00000438747 human ensembl 70_37 -1 known silent c.300 p.A100 0.982 NULL pfam_Fmu/NOL1/Nop2p,prints_RCMT - no_errors NSUN5 HGNC NUAK2 81788 genome.wustl.edu 37 1 205273176 205273176 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 205273176 205273176 C G SNP NUAK2 ENST00000367157 human ensembl 70_37 -1 known missense c.1289 p.S430T 0.005 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors NUAK2 HGNC NUAK2 81788 genome.wustl.edu 37 1 205275364 205275364 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 205275364 205275364 G C SNP NUAK2 ENST00000367157 human ensembl 70_37 -1 known silent c.642 p.L214 0.997 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors NUAK2 HGNC NUAK2 81788 genome.wustl.edu 37 1 205275402 205275402 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 205275402 205275402 G C SNP NUAK2 ENST00000367157 human ensembl 70_37 -1 known missense c.604 p.Q202E 0.938 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors NUAK2 HGNC NUDC 10726 genome.wustl.edu 37 1 27267965 27267965 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 27267965 27267965 C T SNP NUDC ENST00000321265 human ensembl 70_37 +1 known silent c.177 p.F59 0.999 NULL pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain - no_errors NUDC HGNC NUDT10 170685 genome.wustl.edu 37 X 51076121 51076121 + Nonsense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 51076121 51076121 G T SNP NUDT10 ENST00000356450 human ensembl 70_37 +1 known nonsense c.304 p.E102* 0.968 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT10 HGNC NUDT16L1 84309 genome.wustl.edu 37 16 4744305 4744305 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 4744305 4744305 G C SNP NUDT16L1 ENST00000405142 human ensembl 70_37 +1 known silent c.480 p.P160 0.998 NULL superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT16L1 HGNC NUP62 23636 genome.wustl.edu 37 19 50412023 50412023 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 50412023 50412023 C T SNP NUP62 ENST00000352066 human ensembl 70_37 -1 known missense c.1042 p.E348K 1.000 pfam_Nucleoporin_NSP1_C pfam_Nucleoporin_NSP1_C - no_errors NUP62 HGNC NUSAP1 51203 genome.wustl.edu 37 15 41643260 41643260 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 41643260 41643260 C T SNP NUSAP1 ENST00000559596 human ensembl 70_37 +1 known silent c.381 p.L127 0.000 NULL NULL - no_errors NUSAP1 HGNC NWD1 284434 genome.wustl.edu 37 19 16872844 16872844 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 16872844 16872844 G C SNP NWD1 ENST00000379808 human ensembl 70_37 +1 known missense c.2028 p.K676N 0.867 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC NYAP1 222950 genome.wustl.edu 37 7 100085778 100085778 + Nonsense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 100085778 100085778 C G SNP NYAP1 ENST00000423930 human ensembl 70_37 +1 known nonsense c.434 p.S145* 1.000 NULL NULL - no_errors NYAP1 HGNC NYNRIN 57523 genome.wustl.edu 37 14 24886443 24886443 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 24886443 24886443 G C SNP NYNRIN ENST00000382554 human ensembl 70_37 +1 known missense c.5488 p.D1830H 0.988 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC OASL 8638 genome.wustl.edu 37 12 121471367 121471367 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 121471367 121471367 C G SNP OASL ENST00000257570 human ensembl 70_37 -1 known silent c.378 p.L126 0.000 NULL pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_2-5-oligoadenylate_synth_N,pfscan_Ubiquitin_supergroup - no_errors OASL HGNC OBSL1 23363 genome.wustl.edu 37 2 220431664 220431664 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 220431664 220431664 C G SNP OBSL1 ENST00000404537 human ensembl 70_37 -1 known missense c.2022 p.Q674H 0.024 smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors OBSL1 HGNC ODF3 113746 genome.wustl.edu 37 11 199426 199426 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 199426 199426 C G SNP ODF3 ENST00000325113 human ensembl 70_37 +1 known missense c.592 p.P198A 0.996 pfam_SHIPPO-rpt pfam_SHIPPO-rpt - no_errors ODF3 HGNC OGDH 4967 genome.wustl.edu 37 7 44736529 44736529 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 44736529 44736529 G C SNP OGDH ENST00000222673 human ensembl 70_37 +1 known missense c.1917 p.L639F 1.000 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDH HGNC OGG1 4968 genome.wustl.edu 37 3 9800959 9800959 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 9800959 9800959 C G SNP OGG1 ENST00000302008 human ensembl 70_37 +1 known missense c.1037 p.S346C 0.004 NULL pfam_OGG_N,pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,tigrfam_Ogg - no_errors OGG1 HGNC OLFM3 118427 genome.wustl.edu 37 1 102290645 102290645 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 102290645 102290645 C G SNP OLFM3 ENST00000338858 human ensembl 70_37 -1 known missense c.589 p.E197Q 1.000 superfamily_Quino_amine_DH_bsu pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM3 HGNC OMA1 115209 genome.wustl.edu 37 1 58946831 58946831 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 58946831 58946831 C T SNP OMA1 ENST00000371226 human ensembl 70_37 -1 known missense c.1381 p.E461K 1.000 NULL pfam_Peptidase_M48 - no_errors OMA1 HGNC OMG 4974 genome.wustl.edu 37 17 29623322 29623322 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 29623322 29623322 G C SNP OMG ENST00000247271 human ensembl 70_37 -1 known missense c.28 p.L10V 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors OMG HGNC OR10A7 121364 genome.wustl.edu 37 12 55615615 55615615 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 55615615 55615615 G C SNP OR10A7 ENST00000326258 human ensembl 70_37 +1 known missense c.807 p.E269D 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A7 HGNC OR10G4 390264 genome.wustl.edu 37 11 123886816 123886816 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 123886816 123886816 G A SNP OR10G4 ENST00000320891 human ensembl 70_37 +1 known missense c.535 p.D179N 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G4 HGNC OR10H1 26539 genome.wustl.edu 37 19 15917990 15917990 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 15917990 15917990 G C SNP OR10H1 ENST00000334920 human ensembl 70_37 -1 known silent c.858 p.L286 0.983 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H1 HGNC OR10H2 26538 genome.wustl.edu 37 19 15839495 15839495 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 15839495 15839495 C T SNP OR10H2 ENST00000305899 human ensembl 70_37 +1 known silent c.642 p.L214 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H2 HGNC OR1F1 4992 genome.wustl.edu 37 16 3254342 3254342 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 3254342 3254342 C G SNP OR1F1 ENST00000304646 human ensembl 70_37 +1 known silent c.96 p.L32 0.038 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1F1 HGNC OR3A4P 390756 genome.wustl.edu 37 17 3214692 3214692 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 3214692 3214692 C G SNP OR3A4P ENST00000323164 human ensembl 70_37 +1 known rna NULL NULL 0.021 - - - no_errors OR3A4P HGNC OR4C12 283093 genome.wustl.edu 37 11 50003374 50003374 + Missense_Mutation SNP A A G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 50003374 50003374 A G SNP OR4C12 ENST00000335238 human ensembl 70_37 -1 known missense c.664 p.S222P 0.163 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C12 HGNC OR51M1 390059 genome.wustl.edu 37 11 5411111 5411111 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 5411111 5411111 C G SNP OR51M1 ENST00000328611 human ensembl 70_37 +1 known missense c.483 p.I161M 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51M1 HGNC OR52E2 119678 genome.wustl.edu 37 11 5079977 5079977 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 5079977 5079977 C G SNP OR52E2 ENST00000321522 human ensembl 70_37 -1 known missense c.881 p.G294A 1.000 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52E2 HGNC OR56A4 120793 genome.wustl.edu 37 11 6024172 6024172 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 6024172 6024172 G A SNP OR56A4 ENST00000330728 human ensembl 70_37 -1 known silent c.207 p.L69 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR56A4 HGNC OR56B1 387748 genome.wustl.edu 37 11 5758467 5758467 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 5758467 5758467 G C SNP OR56B1 ENST00000317121 human ensembl 70_37 +1 known missense c.721 p.E241Q 0.438 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR56B1 HGNC OR56B4 196335 genome.wustl.edu 37 11 6129417 6129417 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 6129417 6129417 C T SNP OR56B4 ENST00000316529 human ensembl 70_37 +1 known nonsense c.409 p.Q137* 0.070 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR56B4 HGNC OR5D14 219436 genome.wustl.edu 37 11 55563425 55563425 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 55563425 55563425 C G SNP OR5D14 ENST00000335605 human ensembl 70_37 +1 known missense c.394 p.L132V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D14 HGNC OR6B2 389090 genome.wustl.edu 37 2 240969076 240969076 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 240969076 240969076 G A SNP OR6B2 ENST00000402971 human ensembl 70_37 -1 known silent c.771 p.F257 0.996 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6B2 HGNC OR6C74 254783 genome.wustl.edu 37 12 55641759 55641759 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 55641759 55641759 C G SNP OR6C74 ENST00000343870 human ensembl 70_37 +1 known missense c.688 p.Q230E 0.020 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C74 HGNC OR7E94P 79273 genome.wustl.edu 37 4 80508906 80508907 + RNA INS - - AA TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 80508906 80508907 - AA INS OR7E94P ENST00000601375 human ensembl 70_37 -1 known rna NULL NULL 0.004:0.015 - - - no_errors OR7E94P HGNC ORC4 5000 genome.wustl.edu 37 2 148705775 148705775 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 148705775 148705775 C G SNP ORC4 ENST00000264169 human ensembl 70_37 -1 known missense c.607 p.E203Q 1.000 pfam_ATPase_AAA_core,pirsf_ORC4 pfam_ATPase_AAA_core,pfam_ATPase_dom_prok,smart_AAA+_ATPase,pirsf_ORC4 - no_errors ORC4 HGNC OSBP 5007 genome.wustl.edu 37 11 59344396 59344396 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 59344396 59344396 C G SNP OSBP ENST00000263847 human ensembl 70_37 -1 known missense c.2163 p.Q721H 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP HGNC OSBPL3 26031 genome.wustl.edu 37 7 24910400 24910400 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 24910400 24910400 G A SNP OSBPL3 ENST00000313367 human ensembl 70_37 -1 known missense c.332 p.S111L 0.994 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL3 HGNC OSBPL9 114883 genome.wustl.edu 37 1 52117690 52117690 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 52117690 52117690 C T SNP OSBPL9 ENST00000371710 human ensembl 70_37 +1 known missense c.193 p.R65C 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL9 HGNC OTOG 340990 genome.wustl.edu 37 11 17632185 17632185 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 17632185 17632185 G A SNP OTOG ENST00000399391 human ensembl 70_37 +1 known missense c.5374 p.D1792N 0.002 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom - no_errors OTOG HGNC OTOL1 131149 genome.wustl.edu 37 3 161214769 161214769 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 161214769 161214769 C G SNP OTOL1 ENST00000327928 human ensembl 70_37 +1 known silent c.174 p.L58 0.000 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors OTOL1 HGNC OTOP2 92736 genome.wustl.edu 37 17 72926924 72926924 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 72926924 72926924 G A SNP OTOP2 ENST00000331427 human ensembl 70_37 +1 known silent c.1194 p.L398 0.602 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP2 HGNC OTOP3 347741 genome.wustl.edu 37 17 72931871 72931871 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 72931871 72931871 G A SNP OTOP3 ENST00000580749 human ensembl 70_37 +1 known missense c.5 p.R2K 1.000 NULL NULL - no_errors OTOP3 HGNC OTUD3 23252 genome.wustl.edu 37 1 20216933 20216933 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 20216933 20216933 C G SNP OTUD3 ENST00000375120 human ensembl 70_37 +1 known missense c.277 p.L93V 1.000 pfam_OTU,pfscan_OTU pfam_OTU,pfscan_OTU - no_errors OTUD3 HGNC OTUD3 23252 genome.wustl.edu 37 1 20230837 20230837 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 20230837 20230837 G A SNP OTUD3 ENST00000375120 human ensembl 70_37 +1 known silent c.684 p.L228 0.976 NULL pfam_OTU,pfscan_OTU - no_errors OTUD3 HGNC OTUD3 23252 genome.wustl.edu 37 1 20234122 20234122 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 20234122 20234122 G C SNP OTUD3 ENST00000375120 human ensembl 70_37 +1 known missense c.1080 p.E360D 0.980 NULL pfam_OTU,pfscan_OTU - no_errors OTUD3 HGNC OXR1 55074 genome.wustl.edu 37 8 107695447 107695447 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 107695447 107695447 G C SNP OXR1 ENST00000442977 human ensembl 70_37 +1 known missense c.327 p.L109F 1.000 pfam_Peptidoglycan-bd_lysin,smart_Peptidoglycan-bd_Lysin_subgr pfam_TLDc,pfam_Peptidoglycan-bd_lysin,pfam_GRAM,smart_Peptidoglycan-bd_Lysin_subgr,smart_TLDc - no_errors OXR1 HGNC OXR1 55074 genome.wustl.edu 37 8 107695462 107695462 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 107695462 107695462 G A SNP OXR1 ENST00000442977 human ensembl 70_37 +1 known silent c.342 p.L114 1.000 pfam_Peptidoglycan-bd_lysin,smart_Peptidoglycan-bd_Lysin_subgr pfam_TLDc,pfam_Peptidoglycan-bd_lysin,pfam_GRAM,smart_Peptidoglycan-bd_Lysin_subgr,smart_TLDc - no_errors OXR1 HGNC PADI3 51702 genome.wustl.edu 37 1 17597379 17597379 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 17597379 17597379 C T SNP PADI3 ENST00000375460 human ensembl 70_37 +1 known silent c.837 p.F279 1.000 superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI3 HGNC PADI3 51702 genome.wustl.edu 37 1 17597449 17597449 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 17597449 17597449 C G SNP PADI3 ENST00000375460 human ensembl 70_37 +1 known missense c.907 p.L303V 0.993 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI3 HGNC PAG1 55824 genome.wustl.edu 37 8 81903729 81903729 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 81903729 81903729 C T SNP PAG1 ENST00000220597 human ensembl 70_37 -1 known silent c.162 p.E54 1.000 NULL NULL - no_errors PAG1 HGNC PAK4 10298 genome.wustl.edu 37 19 39664289 39664289 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 39664289 39664289 C T SNP PAK4 ENST00000358301 human ensembl 70_37 +1 known missense c.737 p.S246F 0.992 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK4 HGNC PALMD 54873 genome.wustl.edu 37 1 100154591 100154591 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 100154591 100154591 G C SNP PALMD ENST00000263174 human ensembl 70_37 +1 known missense c.775 p.E259Q 1.000 pfam_Paralemmin pfam_Paralemmin - no_errors PALMD HGNC PAM 5066 genome.wustl.edu 37 5 102309832 102309832 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 102309832 102309832 C T SNP PAM ENST00000304400 human ensembl 70_37 +1 known missense c.1175 p.S392L 1.000 NULL pfam_NHL_repeat,pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom,pfscan_NHL_repeat_subgr,prints_Pep_amidat_mOase - no_errors PAM HGNC PAOX 196743 genome.wustl.edu 37 10 135193640 135193640 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 135193640 135193640 C T SNP PAOX ENST00000278060 human ensembl 70_37 +1 known missense c.319 p.H107Y 1.000 pfam_Amino_oxidase pfam_Amino_oxidase - no_errors PAOX HGNC PAPPA2 60676 genome.wustl.edu 37 1 176758970 176758970 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 176758970 176758970 G A SNP PAPPA2 ENST00000367662 human ensembl 70_37 +1 known missense c.4741 p.E1581K 0.999 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC PAQR6 79957 genome.wustl.edu 37 1 156214007 156214007 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 156214007 156214007 G A SNP PAQR6 ENST00000335852 human ensembl 70_37 -1 known missense c.701 p.S234L 1.000 NULL pfam_HlyIII-related - no_errors PAQR6 HGNC PARD3B 117583 genome.wustl.edu 37 2 205983657 205983657 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 205983657 205983657 C G SNP PARD3B ENST00000406610 human ensembl 70_37 +1 known silent c.693 p.L231 0.995 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC PARD6G 84552 genome.wustl.edu 37 18 77917738 77917738 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 77917738 77917738 G A SNP PARD6G ENST00000353265 human ensembl 70_37 -1 known silent c.1047 p.L349 1.000 NULL pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ - no_errors PARD6G HGNC PARP1 142 genome.wustl.edu 37 1 226561959 226561959 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 226561959 226561959 C G SNP PARP1 ENST00000366794 human ensembl 70_37 -1 known missense c.2038 p.E680Q 1.000 pfam_Poly(ADP-ribose)pol_reg_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,pirsf_NAD_ADPRT,pfscan_Poly(ADP-ribose)pol_reg_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP1 HGNC PATZ1 23598 genome.wustl.edu 37 22 31741129 31741129 + Nonsense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 31741129 31741129 C A SNP PATZ1 ENST00000266269 human ensembl 70_37 -1 known nonsense c.460 p.E154* 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors PATZ1 HGNC PBXIP1 57326 genome.wustl.edu 37 1 154918210 154918210 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 154918210 154918210 C T SNP PBXIP1 ENST00000368463 human ensembl 70_37 -1 known missense c.1940 p.G647D 0.972 NULL NULL - no_errors PBXIP1 HGNC PCDH1 5097 genome.wustl.edu 37 5 141243154 141243154 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 141243154 141243154 C G SNP PCDH1 ENST00000287008 human ensembl 70_37 -1 known missense c.2742 p.K914N 1.000 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC PCDH1 5097 genome.wustl.edu 37 5 141243226 141243226 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 141243226 141243226 C T SNP PCDH1 ENST00000287008 human ensembl 70_37 -1 known silent c.2670 p.K890 1.000 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC PCDH12 51294 genome.wustl.edu 37 5 141336211 141336211 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 141336211 141336211 C T SNP PCDH12 ENST00000231484 human ensembl 70_37 -1 known silent c.1206 p.L402 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC PCDHA13 56136 genome.wustl.edu 37 5 140262422 140262422 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 140262422 140262422 C G SNP PCDHA13 ENST00000289272 human ensembl 70_37 +1 known missense c.569 p.S190C 0.000 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 PCDHA13 HGNC PCDHA13 56136 genome.wustl.edu 37 5 140262469 140262469 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 140262469 140262469 C T SNP PCDHA13 ENST00000289272 human ensembl 70_37 +1 known nonsense c.616 p.Q206* 0.000 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 PCDHA13 HGNC PCDHA3 56145 genome.wustl.edu 37 5 140180798 140180798 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 140180798 140180798 C T SNP PCDHA3 ENST00000522353 human ensembl 70_37 +1 known nonsense c.16 p.R6* 0.005 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA3 HGNC PCDHA9 9752 genome.wustl.edu 37 5 140229588 140229588 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 140229588 140229588 C T SNP PCDHA9 ENST00000532602 human ensembl 70_37 +1 known missense c.1508 p.S503L 0.584 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 PCDHA9 HGNC PCDHB12 56124 genome.wustl.edu 37 5 140589356 140589356 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 140589356 140589356 G C SNP PCDHB12 ENST00000239450 human ensembl 70_37 +1 known missense c.877 p.E293Q 0.068 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC PCDHB15 56121 genome.wustl.edu 37 5 140626409 140626409 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 140626409 140626409 C T SNP PCDHB15 ENST00000231173 human ensembl 70_37 +1 known silent c.1263 p.I421 0.006 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB15 HGNC PCDHB7 56129 genome.wustl.edu 37 5 140554795 140554795 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 140554795 140554795 C T SNP PCDHB7 ENST00000231137 human ensembl 70_37 +1 known silent c.2379 p.F793 0.017 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC PCDHGA2 56113 genome.wustl.edu 37 5 140719441 140719441 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 140719441 140719441 G A SNP PCDHGA2 ENST00000394576 human ensembl 70_37 +1 known silent c.903 p.L301 0.019 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 PCDHGA2 HGNC PCDHGB3 56102 genome.wustl.edu 37 5 140750772 140750772 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 140750772 140750772 G A SNP PCDHGB3 ENST00000576222 human ensembl 70_37 +1 known missense c.811 p.E271K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB3 HGNC PCED1B 91523 genome.wustl.edu 37 12 47629733 47629733 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 47629733 47629733 C T SNP PCED1B ENST00000432328 human ensembl 70_37 +1 known missense c.887 p.S296F 0.000 NULL superfamily_Esterase_SGNH_hydro-type - no_errors PCED1B HGNC PCID2 55795 genome.wustl.edu 37 13 113835480 113835480 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 113835480 113835480 C T SNP PCID2 ENST00000246505 human ensembl 70_37 -1 known missense c.912 p.M304I 1.000 smart_PAM pfam_PCI_dom,smart_PAM - no_errors PCID2 HGNC PCM1 5108 genome.wustl.edu 37 8 17843594 17843594 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 17843594 17843594 G C SNP PCM1 ENST00000325083 human ensembl 70_37 +1 known missense c.4408 p.D1470H 1.000 NULL NULL - no_errors PCM1 HGNC PCNX 22990 genome.wustl.edu 37 14 71568837 71568837 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 71568837 71568837 C G SNP PCNX ENST00000304743 human ensembl 70_37 +1 known missense c.5720 p.S1907C 0.997 pfam_Pecanex pfam_Pecanex - no_errors PCNX HGNC PCOLCE 5118 genome.wustl.edu 37 7 100204157 100204157 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 100204157 100204157 C T SNP PCOLCE ENST00000223061 human ensembl 70_37 +1 known nonsense c.844 p.Q282* 0.003 NULL pfam_CUB,pfam_Netrin_module_non-TIMP,superfamily_CUB,superfamily_TIMP-like_OB-fold,smart_CUB,smart_Netrin_module_non-TIMP,pfscan_CUB,pfscan_Netrin_domain - no_errors PCOLCE HGNC PCSK5 5125 genome.wustl.edu 37 9 78638713 78638713 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 78638713 78638713 G C SNP PCSK5 ENST00000545128 human ensembl 70_37 +1 known missense c.471 p.K157N 1.000 pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC PCSK5 5125 genome.wustl.edu 37 9 78936491 78936491 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 78936491 78936491 G A SNP PCSK5 ENST00000545128 human ensembl 70_37 +1 known silent c.3957 p.V1319 0.988 superfamily_Growth_fac_rcpt pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC PDE1A 5136 genome.wustl.edu 37 2 183070752 183070752 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 183070752 183070752 C G SNP PDE1A ENST00000456212 human ensembl 70_37 -1 known missense c.865 p.E289Q 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1A HGNC PDE3A 5139 genome.wustl.edu 37 12 20523043 20523043 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 20523043 20523043 G A SNP PDE3A ENST00000359062 human ensembl 70_37 +1 known silent c.825 p.L275 0.011 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC PDE4DIP 9659 genome.wustl.edu 37 1 144856866 144856866 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 144856866 144856866 G C SNP PDE4DIP ENST00000369356 human ensembl 70_37 -1 known missense c.6619 p.L2207V 0.002 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC PDE4DIP 9659 genome.wustl.edu 37 1 144931628 144931628 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 144931628 144931628 G C SNP PDE4DIP ENST00000313431 human ensembl 70_37 -1 known silent c.81 p.L27 1.000 NULL superfamily_ARM-type_fold - no_errors PDE4DIP HGNC PDE6B 5158 genome.wustl.edu 37 4 657609 657609 + Silent SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 657609 657609 C A SNP PDE6B ENST00000496514 human ensembl 70_37 +1 known silent c.1971 p.I657 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC PDGFRB 5159 genome.wustl.edu 37 5 149504303 149504303 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 149504303 149504303 G C SNP PDGFRB ENST00000261799 human ensembl 70_37 -1 known silent c.1899 p.V633 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors PDGFRB HGNC PDK1 5163 genome.wustl.edu 37 2 173451093 173451093 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 173451093 173451093 G C SNP PDK1 ENST00000282077 human ensembl 70_37 +1 known missense c.1033 p.E345Q 1.000 pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core - no_errors PDK1 HGNC PDLIM5 10611 genome.wustl.edu 37 4 95444881 95444881 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 95444881 95444881 G C SNP PDLIM5 ENST00000317968 human ensembl 70_37 +1 known missense c.103 p.D35H 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM5 HGNC PDLIM5 10611 genome.wustl.edu 37 4 95444938 95444938 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 95444938 95444938 G C SNP PDLIM5 ENST00000317968 human ensembl 70_37 +1 known missense c.160 p.D54H 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM5 HGNC PDZD2 23037 genome.wustl.edu 37 5 32074402 32074402 + Nonsense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 32074402 32074402 G T SNP PDZD2 ENST00000282493 human ensembl 70_37 +1 known nonsense c.3190 p.E1064* 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC PDZD3 79849 genome.wustl.edu 37 11 119058009 119058009 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 119058009 119058009 C T SNP PDZD3 ENST00000392817 human ensembl 70_37 +1 known missense c.559 p.R187W 0.983 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD3 HGNC PDZD8 118987 genome.wustl.edu 37 10 119043870 119043870 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 119043870 119043870 G C SNP PDZD8 ENST00000334464 human ensembl 70_37 -1 known missense c.2374 p.H792D 0.425 NULL pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PDZD8 HGNC PEG10 23089 genome.wustl.edu 37 7 94298361 94298361 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 94298361 94298361 G A SNP PEG10 ENST00000465184 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors PEG10 HGNC PEG3 5178 genome.wustl.edu 37 19 57325989 57325989 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 57325989 57325989 C G SNP PEG3 ENST00000326441 human ensembl 70_37 -1 known missense c.3821 p.R1274T 0.901 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC PES1 23481 genome.wustl.edu 37 22 30975182 30975182 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 30975182 30975182 G A SNP PES1 ENST00000354694 human ensembl 70_37 -1 known missense c.1463 p.S488L 0.157 NULL pfam_Pescadillo,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PES1 HGNC PEX14 5195 genome.wustl.edu 37 1 10689811 10689811 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 10689811 10689811 G C SNP PEX14 ENST00000356607 human ensembl 70_37 +1 known missense c.901 p.G301R 0.988 NULL pfam_Pex14_N - no_errors PEX14 HGNC PEX19 5824 genome.wustl.edu 37 1 160249105 160249105 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 160249105 160249105 G C SNP PEX19 ENST00000532508 human ensembl 70_37 -1 known rna NULL NULL 0.762 - - - no_errors PEX19 HGNC PEX19 5824 genome.wustl.edu 37 1 160249182 160249182 + RNA DEL G G - TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 160249182 160249182 G - DEL PEX19 ENST00000532508 human ensembl 70_37 -1 known rna NULL NULL 0.010 - - - no_errors PEX19 HGNC PEX2 5828 genome.wustl.edu 37 8 77895827 77895827 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 77895827 77895827 G C SNP PEX2 ENST00000357039 human ensembl 70_37 -1 known silent c.588 p.L196 1.000 pfam_Pex_N pfam_Pex_N,smart_Znf_RING,pfscan_Znf_RING - no_errors PEX2 HGNC PEX5L 51555 genome.wustl.edu 37 3 179533760 179533760 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 179533760 179533760 C T SNP PEX5L ENST00000467460 human ensembl 70_37 -1 known silent c.972 p.K324 1.000 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5L HGNC PGAM5 192111 genome.wustl.edu 37 12 133297420 133297420 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 133297420 133297420 C T SNP PGAM5 ENST00000541034 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors PGAM5 HGNC PGAP1 80055 genome.wustl.edu 37 2 197744874 197744874 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 197744874 197744874 G A SNP PGAP1 ENST00000354764 human ensembl 70_37 -1 known silent c.1276 p.L426 0.998 NULL pfam_PGAP1-like - no_errors PGAP1 HGNC PGM2L1 283209 genome.wustl.edu 37 11 74053662 74053662 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 74053662 74053662 G A SNP PGM2L1 ENST00000298198 human ensembl 70_37 -1 known silent c.1476 p.F492 1.000 NULL pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III - no_errors PGM2L1 HGNC PHACTR4 65979 genome.wustl.edu 37 1 28816356 28816356 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 28816356 28816356 G A SNP PHACTR4 ENST00000493669 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors PHACTR4 HGNC PHF13 148479 genome.wustl.edu 37 1 6681563 6681563 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 6681563 6681563 C T SNP PHF13 ENST00000377648 human ensembl 70_37 +1 known missense c.769 p.H257Y 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF13 HGNC PHF3 23469 genome.wustl.edu 37 6 64408465 64408465 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 64408465 64408465 G C SNP PHF3 ENST00000262043 human ensembl 70_37 +1 known missense c.2952 p.L984F 1.000 pfam_TFIIS_cen_dom,superfamily_TFIIS_cen_dom,smart_TFS2M pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC PHLDA1 22822 genome.wustl.edu 37 12 76424317 76424317 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 76424317 76424317 C T SNP PHLDA1 ENST00000266671 human ensembl 70_37 -1 known silent c.1205 p.*402 1.000 NULL smart_Pleckstrin_homology - no_errors PHLDA1 HGNC PHLDB2 90102 genome.wustl.edu 37 3 111603801 111603801 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 111603801 111603801 C T SNP PHLDB2 ENST00000393925 human ensembl 70_37 +1 known missense c.877 p.H293Y 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC PHYHIP 9796 genome.wustl.edu 37 8 22081786 22081786 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 22081786 22081786 G A SNP PHYHIP ENST00000454243 human ensembl 70_37 -1 known silent c.411 p.F137 1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PHYHIP HGNC PIK3C2B 5287 genome.wustl.edu 37 1 204438303 204438303 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 204438303 204438303 C T SNP PIK3C2B ENST00000367187 human ensembl 70_37 -1 known missense c.628 p.E210K 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC PIK3C2G 5288 genome.wustl.edu 37 12 18515721 18515721 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 18515721 18515721 G C SNP PIK3C2G ENST00000538779 human ensembl 70_37 +1 known missense c.1649 p.C550S 1.000 pfam_PI3K_C2_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC PIK3R1 5295 genome.wustl.edu 37 5 67589255 67589255 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 67589255 67589255 C T SNP PIK3R1 ENST00000396611 human ensembl 70_37 +1 known nonsense c.1243 p.Q415* 1.000 pfscan_SH2 pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC PIK3R1 5295 genome.wustl.edu 37 5 67589631 67589631 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 67589631 67589631 G C SNP PIK3R1 ENST00000396611 human ensembl 70_37 +1 known missense c.1394 p.R465T 1.000 superfamily_Guanylate-bd_C pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC PIK3R1 5295 genome.wustl.edu 37 5 67591079 67591079 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 67591079 67591079 G C SNP PIK3R1 ENST00000396611 human ensembl 70_37 +1 known missense c.1672 p.E558Q 1.000 prints_PI3kinase_P85 pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC PIK3R1 5295 genome.wustl.edu 37 5 67591128 67591128 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 67591128 67591128 G T SNP PIK3R1 ENST00000396611 human ensembl 70_37 +1 known missense c.1721 p.R574I 1.000 prints_PI3kinase_P85 pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC PIK3R4 30849 genome.wustl.edu 37 3 130463841 130463841 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 130463841 130463841 C G SNP PIK3R4 ENST00000356763 human ensembl 70_37 -1 known silent c.222 p.L74 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,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PIK3R4 HGNC PIP5K1C 23396 genome.wustl.edu 37 19 3648672 3648672 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 3648672 3648672 C T SNP PIP5K1C ENST00000537021 human ensembl 70_37 -1 known missense c.1162 p.E388K 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1C HGNC PITPNM3 83394 genome.wustl.edu 37 17 6360959 6360959 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 6360959 6360959 G A SNP PITPNM3 ENST00000262483 human ensembl 70_37 -1 known silent c.2574 p.I858 1.000 pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2 pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC PITPNM3 83394 genome.wustl.edu 37 17 6381313 6381313 + Silent SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 6381313 6381313 C A SNP PITPNM3 ENST00000262483 human ensembl 70_37 -1 known silent c.882 p.G294 0.997 NULL pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC PIWIL3 440822 genome.wustl.edu 37 22 25158460 25158460 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 25158460 25158460 C G SNP PIWIL3 ENST00000332271 human ensembl 70_37 -1 known missense c.7 p.G3R 0.736 NULL pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL3 HGNC PIWIL4 143689 genome.wustl.edu 37 11 94316638 94316638 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 94316638 94316638 C G SNP PIWIL4 ENST00000299001 human ensembl 70_37 +1 known missense c.538 p.Q180E 0.000 superfamily_PAZ pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL4 HGNC PKD1L1 168507 genome.wustl.edu 37 7 47897295 47897295 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 47897295 47897295 G C SNP PKD1L1 ENST00000289672 human ensembl 70_37 -1 known missense c.4498 p.P1500A 0.000 pfscan_REJ-like pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like - no_errors PKD1L1 HGNC PKHD1L1 93035 genome.wustl.edu 37 8 110408272 110408272 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 110408272 110408272 C A SNP PKHD1L1 ENST00000378402 human ensembl 70_37 +1 known missense c.828 p.F276L 0.326 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC PKHD1L1 93035 genome.wustl.edu 37 8 110456022 110456022 + Nonsense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 110456022 110456022 C G SNP PKHD1L1 ENST00000378402 human ensembl 70_37 +1 known nonsense c.4682 p.S1561* 1.000 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC PKM 5315 genome.wustl.edu 37 15 72502765 72502765 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 72502765 72502765 C T SNP PKM ENST00000319622 human ensembl 70_37 -1 known missense c.301 p.D101N 0.998 pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKM HGNC PKP3 11187 genome.wustl.edu 37 11 397562 397562 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 397562 397562 C T SNP PKP3 ENST00000331563 human ensembl 70_37 +1 known missense c.968 p.S323L 0.766 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP3 HGNC PLA2G6 8398 genome.wustl.edu 37 22 38512084 38512084 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 38512084 38512084 G A SNP PLA2G6 ENST00000332509 human ensembl 70_37 -1 known missense c.1877 p.S626L 0.992 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Ankyrin_rpt,pfam_Patatin/PLipase_A2-rel,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PLA2G6 HGNC PLA2G6 8398 genome.wustl.edu 37 22 38512097 38512097 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 38512097 38512097 G C SNP PLA2G6 ENST00000332509 human ensembl 70_37 -1 known missense c.1864 p.P622A 0.997 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Ankyrin_rpt,pfam_Patatin/PLipase_A2-rel,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PLA2G6 HGNC PLCB1 23236 genome.wustl.edu 37 20 8130983 8130983 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 8130983 8130983 C G SNP PLCB1 ENST00000338037 human ensembl 70_37 +1 known missense c.142 p.Q48E 1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC PLCB1 23236 genome.wustl.edu 37 20 8745835 8745835 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 8745835 8745835 G A SNP PLCB1 ENST00000338037 human ensembl 70_37 +1 known silent c.2760 p.V920 0.995 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC PLCD3 113026 genome.wustl.edu 37 17 43192603 43192603 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 43192603 43192603 C A SNP PLCD3 ENST00000322765 human ensembl 70_37 -1 known missense c.1569 p.Q523H 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD3 HGNC PLCD4 84812 genome.wustl.edu 37 2 219495403 219495403 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 219495403 219495403 G A SNP PLCD4 ENST00000417849 human ensembl 70_37 +1 known missense c.1150 p.E384K 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD4 HGNC PLCG1 5335 genome.wustl.edu 37 20 39793956 39793956 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 39793956 39793956 C G SNP PLCG1 ENST00000244007 human ensembl 70_37 +1 known missense c.1458 p.I486M 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl,pirsf_PLC-gamma pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2 - no_errors PLCG1 HGNC PLEC 5339 genome.wustl.edu 37 8 145009251 145009251 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 145009251 145009251 G A SNP PLEC ENST00000322810 human ensembl 70_37 -1 known silent c.1164 p.I388 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC PLEKHA4 57664 genome.wustl.edu 37 19 49362362 49362362 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 49362362 49362362 G C SNP PLEKHA4 ENST00000263265 human ensembl 70_37 -1 known missense c.727 p.L243V 0.997 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA4 HGNC PLEKHA5 54477 genome.wustl.edu 37 12 19475477 19475477 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 19475477 19475477 C T SNP PLEKHA5 ENST00000317589 human ensembl 70_37 +1 known missense c.2015 p.S672L 1.000 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 PLEKHA5 54477 genome.wustl.edu 37 12 19522680 19522680 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 19522680 19522680 C G SNP PLEKHA5 ENST00000317589 human ensembl 70_37 +1 known missense c.3499 p.Q1167E 0.984 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 PLEKHA7 144100 genome.wustl.edu 37 11 16807925 16807925 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 16807925 16807925 C T SNP PLEKHA7 ENST00000531066 human ensembl 70_37 -1 putative missense c.3367 p.E1123K 1.000 NULL pfam_Pleckstrin_homology,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP - no_errors PLEKHA7 HGNC PLEKHG1 57480 genome.wustl.edu 37 6 151121928 151121928 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 151121928 151121928 C G SNP PLEKHG1 ENST00000358517 human ensembl 70_37 +1 known missense c.703 p.L235V 0.994 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC PLEKHG4 25894 genome.wustl.edu 37 16 67314851 67314851 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 67314851 67314851 C G SNP PLEKHG4 ENST00000360461 human ensembl 70_37 +1 known missense c.662 p.S221C 1.000 superfamily_CRAL-TRIO_dom pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4 HGNC PLEKHM1 9842 genome.wustl.edu 37 17 43516962 43516962 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 43516962 43516962 C G SNP PLEKHM1 ENST00000430334 human ensembl 70_37 -1 known silent c.2940 p.L980 0.986 NULL pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PLEKHM1 HGNC PLK3 1263 genome.wustl.edu 37 1 45270290 45270290 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 45270290 45270290 G A SNP PLK3 ENST00000465443 human ensembl 70_37 +1 known rna NULL NULL 0.091 - - - no_errors PLK3 HGNC PLP2 5355 genome.wustl.edu 37 X 49030742 49030742 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 49030742 49030742 C T SNP PLP2 ENST00000376327 human ensembl 70_37 +1 known missense c.406 p.R136W 0.024 NULL pfam_MARVEL-like_dom - no_errors PLP2 HGNC PLS3 5358 genome.wustl.edu 37 X 114868346 114868346 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 114868346 114868346 G C SNP PLS3 ENST00000355899 human ensembl 70_37 +1 known missense c.535 p.D179H 1.000 pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors PLS3 HGNC PLXDC1 57125 genome.wustl.edu 37 17 37296064 37296064 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 37296064 37296064 G A SNP PLXDC1 ENST00000315392 human ensembl 70_37 -1 known missense c.98 p.S33F 0.338 NULL pfam_Plexin_repeat,superfamily_Plexin-like_fold - no_errors PLXDC1 HGNC PLXNA2 5362 genome.wustl.edu 37 1 208219282 208219282 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 208219282 208219282 C T SNP PLXNA2 ENST00000367033 human ensembl 70_37 -1 known missense c.3436 p.E1146K 1.000 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 PLXNA2 HGNC PLXNC1 10154 genome.wustl.edu 37 12 94691157 94691157 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 94691157 94691157 C T SNP PLXNC1 ENST00000258526 human ensembl 70_37 +1 known silent c.4032 p.F1344 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNC1 HGNC PLXNC1 10154 genome.wustl.edu 37 12 94697586 94697586 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 94697586 94697586 G C SNP PLXNC1 ENST00000258526 human ensembl 70_37 +1 known missense c.4441 p.E1481Q 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNC1 HGNC PLXND1 23129 genome.wustl.edu 37 3 129286613 129286613 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 129286613 129286613 C T SNP PLXND1 ENST00000324093 human ensembl 70_37 -1 known missense c.3901 p.E1301K 0.998 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,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 PLXND1 HGNC PMPCA 23203 genome.wustl.edu 37 9 139312472 139312472 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 139312472 139312472 G C SNP PMPCA ENST00000371717 human ensembl 70_37 +1 known missense c.901 p.E301Q 1.000 pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors PMPCA HGNC PNLIPRP2 5408 genome.wustl.edu 37 10 118394403 118394403 + Nonsense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 118394403 118394403 C G SNP PNLIPRP2 ENST00000537242 human ensembl 70_37 +1 known nonsense c.869 p.S290* 0.037 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_panc,prints_Lipase - no_errors PNLIPRP2 HGNC PNPLA7 375775 genome.wustl.edu 37 9 140355119 140355119 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 140355119 140355119 G A SNP PNPLA7 ENST00000406427 human ensembl 70_37 -1 known silent c.3912 p.F1304 1.000 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC PNRC1 10957 genome.wustl.edu 37 6 89790884 89790884 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 89790884 89790884 C T SNP PNRC1 ENST00000336032 human ensembl 70_37 +1 known missense c.271 p.R91W 0.995 NULL NULL - no_errors PNRC1 HGNC POLD1 5424 genome.wustl.edu 37 19 50912854 50912854 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 50912854 50912854 G C SNP POLD1 ENST00000440232 human ensembl 70_37 +1 known silent c.2085 p.V695 1.000 pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLD1 HGNC POLD3 10714 genome.wustl.edu 37 11 74323927 74323927 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 74323927 74323927 G A SNP POLD3 ENST00000263681 human ensembl 70_37 +1 known silent c.264 p.V88 1.000 pfam_DNA_polymerase_subunit_Cdc27 pfam_DNA_polymerase_subunit_Cdc27 - no_errors POLD3 HGNC POLE2 5427 genome.wustl.edu 37 14 50154889 50154889 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 50154889 50154889 G A SNP POLE2 ENST00000216367 human ensembl 70_37 -1 known silent c.33 p.L11 0.006 pfam_DNA_pol_e_bsu_N,pirsf_DNA_pol_e_bsu pfam_DNA_pol_alpha/epsilon_bsu,pfam_DNA_pol_e_bsu_N,pirsf_DNA_pol_e_bsu - no_errors POLE2 HGNC POLK 51426 genome.wustl.edu 37 5 74877066 74877066 + Nonsense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 74877066 74877066 G T SNP POLK ENST00000241436 human ensembl 70_37 +1 known nonsense c.727 p.E243* 0.291 pfam_DNA_repair_prot_UmuC-like,pfscan_DNA_repair_prot_UmuC-like_N pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_PolY_HhH_motif,superfamily_DNA_pol_Y-fam_little_finger,smart_Znf_Rad18_put,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLK HGNC POLQ 10721 genome.wustl.edu 37 3 121208843 121208843 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 121208843 121208843 C T SNP POLQ ENST00000264233 human ensembl 70_37 -1 known missense c.2935 p.E979K 0.591 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC POLR1A 25885 genome.wustl.edu 37 2 86269049 86269049 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 86269049 86269049 C G SNP POLR1A ENST00000263857 human ensembl 70_37 -1 known missense c.3535 p.E1179Q 0.176 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC POLR2B 5431 genome.wustl.edu 37 4 57888400 57888400 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 57888400 57888400 G A SNP POLR2B ENST00000314595 human ensembl 70_37 +1 known missense c.2503 p.E835K 1.000 pfam_DNA-dir_RNA_pol_su2_6 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5 - no_errors POLR2B HGNC POLR2F 5435 genome.wustl.edu 37 22 38355371 38355371 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 38355371 38355371 G A SNP POLR2F ENST00000442738 human ensembl 70_37 +1 known missense c.109 p.E37K 0.994 superfamily_RNA_poly_omega/K/RPABC2 pfam_RNA_poly_omega/K/RPABC2,superfamily_RNA_poly_omega/K/RPABC2 - no_errors POLR2F HGNC POLR3E 55718 genome.wustl.edu 37 16 22339866 22339866 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 22339866 22339866 G A SNP POLR3E ENST00000299853 human ensembl 70_37 +1 known silent c.1902 p.Q634 1.000 NULL pfam_RNA_pol_III_Rpc5 - no_errors POLR3E HGNC POLR3E 55718 genome.wustl.edu 37 16 22339899 22339899 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 22339899 22339899 G C SNP POLR3E ENST00000299853 human ensembl 70_37 +1 known missense c.1935 p.M645I 1.000 NULL pfam_RNA_pol_III_Rpc5 - no_errors POLR3E HGNC POM121L12 285877 genome.wustl.edu 37 7 53103781 53103781 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 53103781 53103781 C T SNP POM121L12 ENST00000408890 human ensembl 70_37 +1 known silent c.417 p.I139 0.001 NULL NULL - no_errors POM121L12 HGNC POM121L9P 29774 genome.wustl.edu 37 22 24647929 24647929 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 24647929 24647929 C T SNP POM121L9P ENST00000414583 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors POM121L9P HGNC POMT1 10585 genome.wustl.edu 37 9 134397656 134397656 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 134397656 134397656 C T SNP POMT1 ENST00000494883 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors POMT1 HGNC POP4 10775 genome.wustl.edu 37 19 30104848 30104848 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 30104848 30104848 C T SNP POP4 ENST00000585603 human ensembl 70_37 +1 known silent c.495 p.F165 1.000 pfam_RNase_P/MRP_p29,superfamily_Rof/RNase_P-like,smart_RNase_P/MRP_p29,pirsf_RNase_P/MRP_p29-subunit pfam_RNase_P/MRP_p29,superfamily_Rof/RNase_P-like,smart_RNase_P/MRP_p29,pirsf_RNase_P/MRP_p29-subunit - no_errors POP4 HGNC PPARGC1B 133522 genome.wustl.edu 37 5 149206428 149206428 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 149206428 149206428 G A SNP PPARGC1B ENST00000309241 human ensembl 70_37 +1 known missense c.445 p.E149K 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1B HGNC PPEF2 5470 genome.wustl.edu 37 4 76793176 76793176 + Splice_Site SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 76793176 76793176 G A SNP PPEF2 ENST00000286719 human ensembl 70_37 -1 known splice_site c.1649+2 e12+2 1.000 - - - no_errors PPEF2 HGNC PPFIA1 8500 genome.wustl.edu 37 11 70171018 70171018 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 70171018 70171018 G A SNP PPFIA1 ENST00000253925 human ensembl 70_37 +1 known silent c.432 p.V144 0.998 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA1 HGNC PPFIA1 8500 genome.wustl.edu 37 11 70222689 70222689 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 70222689 70222689 G A SNP PPFIA1 ENST00000253925 human ensembl 70_37 +1 known missense c.3367 p.D1123N 1.000 superfamily_SAM/pointed pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA1 HGNC PPFIA3 8541 genome.wustl.edu 37 19 49637098 49637098 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 49637098 49637098 G C SNP PPFIA3 ENST00000334186 human ensembl 70_37 +1 known missense c.1207 p.E403Q 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC PPIB 5479 genome.wustl.edu 37 15 64454326 64454326 + Nonsense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 64454326 64454326 C A SNP PPIB ENST00000300026 human ensembl 70_37 -1 known nonsense c.163 p.E55* 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIB HGNC PPIP5K2 23262 genome.wustl.edu 37 5 102515860 102515860 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 102515860 102515860 C T SNP PPIP5K2 ENST00000358359 human ensembl 70_37 +1 known missense c.2893 p.P965S 1.000 NULL pfam_His_Pase_superF_clade-2 - no_errors PPIP5K2 HGNC PPM1G 5496 genome.wustl.edu 37 2 27607593 27607593 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 27607593 27607593 C G SNP PPM1G ENST00000344034 human ensembl 70_37 -1 known missense c.772 p.E258Q 1.000 superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1G HGNC PPM1M 132160 genome.wustl.edu 37 3 52280796 52280796 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 52280796 52280796 G A SNP PPM1M ENST00000457351 human ensembl 70_37 +1 known missense c.310 p.E104K 0.066 superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1M HGNC PPP1CA 5499 genome.wustl.edu 37 11 67168224 67168224 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 67168224 67168224 G A SNP PPP1CA ENST00000312989 human ensembl 70_37 -1 known silent c.387 p.F129 1.000 pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP1CA HGNC PPP1R10 5514 genome.wustl.edu 37 6 30573980 30573980 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 30573980 30573980 C G SNP PPP1R10 ENST00000376511 human ensembl 70_37 -1 known missense c.675 p.K225N 1.000 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC PPP1R16B 26051 genome.wustl.edu 37 20 37531352 37531352 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 37531352 37531352 G A SNP PPP1R16B ENST00000299824 human ensembl 70_37 +1 known missense c.613 p.E205K 1.000 superfamily_Ankyrin_rpt-contain_dom,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R16B HGNC PPP1R1A 5502 genome.wustl.edu 37 12 54975847 54975847 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 54975847 54975847 C T SNP PPP1R1A ENST00000257905 human ensembl 70_37 -1 known missense c.316 p.E106K 0.111 pfam_PPI_1DARPP-32 pfam_PPI_1DARPP-32 - no_errors PPP1R1A HGNC PPP1R21 129285 genome.wustl.edu 37 2 48718244 48718244 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 48718244 48718244 C G SNP PPP1R21 ENST00000294952 human ensembl 70_37 +1 known missense c.1534 p.L512V 0.981 pfam_KLRAQ/TTKRSYEDQ_C pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin/RNR-like - no_errors PPP1R21 HGNC PPP1R42 286187 genome.wustl.edu 37 8 67926753 67926753 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 67926753 67926753 C T SNP PPP1R42 ENST00000522909 human ensembl 70_37 -1 known silent c.204 p.L68 1.000 NULL pfam_Leu-rich_rpt - no_errors PPP1R42 HGNC PPP1R8 5511 genome.wustl.edu 37 1 28165230 28165230 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 28165230 28165230 G C SNP PPP1R8 ENST00000311772 human ensembl 70_37 +1 known missense c.138 p.K46N 1.000 superfamily_SMAD_FHA_domain pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors PPP1R8 HGNC PPP1R9A 55607 genome.wustl.edu 37 7 94740697 94740697 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 94740697 94740697 G C SNP PPP1R9A ENST00000289495 human ensembl 70_37 +1 known missense c.1522 p.E508Q 1.000 pfam_PDZ,superfamily_PDZ,pfscan_PDZ pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC PPP1R9B 84687 genome.wustl.edu 37 17 48221036 48221036 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 48221036 48221036 C G SNP PPP1R9B ENST00000316878 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PPP1R9B HGNC PPP2R3A 5523 genome.wustl.edu 37 3 135822161 135822161 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 135822161 135822161 C G SNP PPP2R3A ENST00000264977 human ensembl 70_37 +1 known missense c.3165 p.F1055L 1.000 NULL pfscan_EF_HAND_2 - no_errors PPP2R3A HGNC PPP4R1 9989 genome.wustl.edu 37 18 9562029 9562029 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 9562029 9562029 C G SNP PPP4R1 ENST00000400556 human ensembl 70_37 -1 known missense c.1791 p.L597F 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R1 HGNC PPP6R2 9701 genome.wustl.edu 37 22 50845122 50845122 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 50845122 50845122 C G SNP PPP6R2 ENST00000216061 human ensembl 70_37 +1 known missense c.232 p.P78A 1.000 superfamily_ARM-type_fold pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R2 HGNC PRAMEF20 645425 genome.wustl.edu 37 1 13743092 13743092 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 13743092 13743092 G A SNP PRAMEF20 ENST00000316412 human ensembl 70_37 +1 known missense c.281 p.R94H 0.001 NULL NULL - no_errors PRAMEF20 HGNC PRB3 5544 genome.wustl.edu 37 12 11420626 11420626 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 11420626 11420626 G T SNP PRB3 ENST00000381842 human ensembl 70_37 -1 known missense c.557 p.P186Q 0.048 NULL NULL - no_errors PRB3 HGNC PREPL 9581 genome.wustl.edu 37 2 44553900 44553900 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 44553900 44553900 C T SNP PREPL ENST00000260648 human ensembl 70_37 -1 known missense c.1697 p.G566E 1.000 pfam_Peptidase_S9,prints_Peptidase_S9A pfam_Peptidase_S9,pfam_Peptidase_S9A_B_C_N,superfamily_Peptidase_S9A_B_C_N,prints_Peptidase_S9A - no_errors PREPL HGNC PREX1 57580 genome.wustl.edu 37 20 47276504 47276504 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 47276504 47276504 G C SNP PREX1 ENST00000371941 human ensembl 70_37 -1 known missense c.1834 p.R612G 0.983 superfamily_PDZ pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC PRG4 10216 genome.wustl.edu 37 1 186275597 186275597 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 186275597 186275597 C T SNP PRG4 ENST00000445192 human ensembl 70_37 +1 known missense c.746 p.S249F 0.923 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors PRG4 HGNC PRKAB1 5564 genome.wustl.edu 37 12 120118157 120118157 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 120118157 120118157 G A SNP PRKAB1 ENST00000537057 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PRKAB1 HGNC PRKACA 5566 genome.wustl.edu 37 19 14208672 14208672 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 14208672 14208672 C A SNP PRKACA ENST00000308677 human ensembl 70_37 -1 known missense c.450 p.Q150H 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,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACA HGNC PRKAG1 5571 genome.wustl.edu 37 12 49399151 49399151 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 49399151 49399151 G C SNP PRKAG1 ENST00000316299 human ensembl 70_37 -1 novel missense c.274 p.L92V 0.266 smart_Cysta_beta_synth_core pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core - no_errors PRKAG1 HGNC PRKCB 5579 genome.wustl.edu 37 16 24166169 24166169 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 24166169 24166169 C G SNP PRKCB ENST00000303531 human ensembl 70_37 +1 known missense c.1230 p.F410L 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,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCB HGNC PRKCI 5584 genome.wustl.edu 37 3 169985710 169985710 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 169985710 169985710 C G SNP PRKCI ENST00000295797 human ensembl 70_37 +1 known missense c.372 p.I124M 0.999 pirsf_PKC_zeta pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKCI HGNC PRKDC 5591 genome.wustl.edu 37 8 48686800 48686800 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 48686800 48686800 C G SNP PRKDC ENST00000314191 human ensembl 70_37 -1 known silent c.12318 p.L4106 0.933 pfam_FATC,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC PRKDC 5591 genome.wustl.edu 37 8 48736444 48736444 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 48736444 48736444 G C SNP PRKDC ENST00000314191 human ensembl 70_37 -1 known missense c.8894 p.S2965C 1.000 pfscan_PIK_FAT pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC PROKR1 10887 genome.wustl.edu 37 2 68882657 68882657 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 68882657 68882657 G A SNP PROKR1 ENST00000303786 human ensembl 70_37 +1 known silent c.1131 p.K377 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR1 HGNC PRPF4 9128 genome.wustl.edu 37 9 116041407 116041407 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 116041407 116041407 G C SNP PRPF4 ENST00000374198 human ensembl 70_37 +1 known missense c.391 p.E131Q 1.000 pfam_PRP4,smart_SFM pfam_WD40_repeat,pfam_PRP4,superfamily_WD40_repeat_dom,smart_SFM,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PRPF4 HGNC PRPF4 9128 genome.wustl.edu 37 9 116048568 116048568 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 116048568 116048568 G A SNP PRPF4 ENST00000374198 human ensembl 70_37 +1 known missense c.809 p.R270Q 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_PRP4,superfamily_WD40_repeat_dom,smart_SFM,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PRPF4 HGNC PRPF4B 8899 genome.wustl.edu 37 6 4058961 4058961 + Splice_Site SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 4058961 4058961 G A SNP PRPF4B ENST00000337659 human ensembl 70_37 +1 known splice_site c.2734-1 e14-1 1.000 - - - no_errors PRPF4B HGNC PRR12 57479 genome.wustl.edu 37 19 50104804 50104804 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 50104804 50104804 C G SNP PRR12 ENST00000418929 human ensembl 70_37 +1 novel missense c.4402 p.Q1468E 1.000 NULL NULL - no_errors PRR12 HGNC PRR12 57479 genome.wustl.edu 37 19 50119194 50119194 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 50119194 50119194 G C SNP PRR12 ENST00000418929 human ensembl 70_37 +1 novel missense c.5215 p.E1739Q 0.993 NULL NULL - no_errors PRR12 HGNC PRR3 80742 genome.wustl.edu 37 6 30531427 30531428 + RNA INS - - T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 30531427 30531428 - T INS PRR3 ENST00000481741 human ensembl 70_37 +1 known rna NULL NULL 0.021:0.005 - - - no_errors PRR3 HGNC PRRC2B 84726 genome.wustl.edu 37 9 134348985 134348985 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 134348985 134348985 G C SNP PRRC2B ENST00000357304 human ensembl 70_37 +1 known missense c.2198 p.R733T 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC PRRC2B 84726 genome.wustl.edu 37 9 134349046 134349046 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 134349046 134349046 G C SNP PRRC2B ENST00000357304 human ensembl 70_37 +1 known missense c.2259 p.Q753H 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC PRRC2B 84726 genome.wustl.edu 37 9 134349845 134349845 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 134349845 134349845 G C SNP PRRC2B ENST00000357304 human ensembl 70_37 +1 known missense c.2329 p.E777Q 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC PRRC2B 84726 genome.wustl.edu 37 9 134350562 134350562 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 134350562 134350562 G A SNP PRRC2B ENST00000357304 human ensembl 70_37 +1 known missense c.3046 p.E1016K 0.769 NULL pfam_BAT2_N - no_errors PRRC2B HGNC PRRG1 5638 genome.wustl.edu 37 X 37312502 37312502 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 37312502 37312502 C G SNP PRRG1 ENST00000378628 human ensembl 70_37 +1 known silent c.285 p.L95 0.996 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG1 HGNC PRRT1 80863 genome.wustl.edu 37 6 32117007 32117007 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 32117007 32117007 C T SNP PRRT1 ENST00000211413 human ensembl 70_37 -1 known missense c.913 p.D305N 1.000 NULL pfam_Interferon-induced_TM_protein - no_errors PRRT1 HGNC PRRX1 5396 genome.wustl.edu 37 1 170695370 170695370 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 170695370 170695370 C T SNP PRRX1 ENST00000239461 human ensembl 70_37 +1 known nonsense c.427 p.Q143* 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain - no_errors PRRX1 HGNC PRSS36 146547 genome.wustl.edu 37 16 31150460 31150460 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 31150460 31150460 C T SNP PRSS36 ENST00000268281 human ensembl 70_37 -1 known silent c.2567 p.*856 0.988 NULL pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_polyserase-2,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS36 HGNC PSAP 5660 genome.wustl.edu 37 10 73580086 73580086 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 73580086 73580086 C T SNP PSAP ENST00000373120 human ensembl 70_37 -1 known missense c.916 p.E306K 0.000 pirsf_Saposin_chordata pirsf_Saposin_chordata,pfam_SapB_1,pfam_SapB_2,pfam_SapA,superfamily_Saposin-like,smart_SapA,smart_SaposinB,prints_Saposin,pfscan_SapA,pfscan_SaposinB - no_errors PSAP HGNC PSG8 440533 genome.wustl.edu 37 19 43268273 43268273 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 43268273 43268273 G A SNP PSG8 ENST00000306511 human ensembl 70_37 -1 known silent c.225 p.L75 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG8 HGNC PSMB1 5689 genome.wustl.edu 37 6 170844466 170844466 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 170844466 170844466 C G SNP PSMB1 ENST00000262193 human ensembl 70_37 -1 known missense c.568 p.E190Q 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b - no_errors PSMB1 HGNC PSMB10 5699 genome.wustl.edu 37 16 67970608 67970608 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 67970608 67970608 C G SNP PSMB10 ENST00000358514 human ensembl 70_37 -1 known missense c.45 p.E15D 0.955 NULL pfam_Proteasome_sua/b,pfam_Proteasome_bsu_C,prints_Pept_T1A_subB - no_errors PSMB10 HGNC PSMC1 5700 genome.wustl.edu 37 14 90734620 90734620 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 90734620 90734620 G C SNP PSMC1 ENST00000261303 human ensembl 70_37 +1 known missense c.744 p.L248F 1.000 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DUF815,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DUF815,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC1 HGNC PTGFRN 5738 genome.wustl.edu 37 1 117527316 117527316 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 117527316 117527316 G A SNP PTGFRN ENST00000393203 human ensembl 70_37 +1 known missense c.2182 p.D728N 1.000 smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PTGFRN HGNC PTGR1 22949 genome.wustl.edu 37 9 114325402 114325402 + Nonstop_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 114325402 114325402 C G SNP PTGR1 ENST00000309195 human ensembl 70_37 -1 known nonstop c.989 p.*330S 0.161 NULL pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER,tigrfam_B4_12hDH - no_errors PTGR1 HGNC PTPDC1 138639 genome.wustl.edu 37 9 96860086 96860086 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 96860086 96860086 G C SNP PTPDC1 ENST00000375360 human ensembl 70_37 +1 known missense c.1076 p.R359P 0.967 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase - no_errors PTPDC1 HGNC PTPN12 5782 genome.wustl.edu 37 7 77256663 77256663 + Nonsense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 77256663 77256663 C G SNP PTPN12 ENST00000248594 human ensembl 70_37 +1 known nonsense c.1667 p.S556* 1.000 pirsf_Tyr_Pase_non-rcpt_typ-12 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-12,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN12 HGNC PTPN23 25930 genome.wustl.edu 37 3 47447426 47447426 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 47447426 47447426 C T SNP PTPN23 ENST00000265562 human ensembl 70_37 +1 known missense c.436 p.H146Y 1.000 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_BRO1_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC PTPRF 5792 genome.wustl.edu 37 1 44071938 44071938 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 44071938 44071938 G C SNP PTPRF ENST00000359947 human ensembl 70_37 +1 known missense c.3511 p.E1171Q 0.006 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC PTPRF 5792 genome.wustl.edu 37 1 44089323 44089323 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 44089323 44089323 C T SNP PTPRF ENST00000496447 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PTPRF HGNC PTPRJ 5795 genome.wustl.edu 37 11 48157793 48157793 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 48157793 48157793 C G SNP PTPRJ ENST00000418331 human ensembl 70_37 +1 known missense c.1818 p.I606M 0.144 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC PTPRK 5796 genome.wustl.edu 37 6 128411102 128411102 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 128411102 128411102 C G SNP PTPRK ENST00000368227 human ensembl 70_37 -1 known missense c.1198 p.E400Q 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC PTPRM 5797 genome.wustl.edu 37 18 8394576 8394576 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 8394576 8394576 G A SNP PTPRM ENST00000400060 human ensembl 70_37 +1 known silent c.4314 p.L1438 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC PWP2 5822 genome.wustl.edu 37 21 45538667 45538667 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 45538667 45538667 C T SNP PWP2 ENST00000291576 human ensembl 70_37 +1 known missense c.1004 p.S335L 0.711 superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP2 HGNC PXDN 7837 genome.wustl.edu 37 2 1687886 1687886 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 1687886 1687886 C G SNP PXDN ENST00000252804 human ensembl 70_37 -1 known missense c.454 p.D152H 0.929 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like - no_errors PXDN HGNC PYROXD2 84795 genome.wustl.edu 37 10 100152754 100152754 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 100152754 100152754 G C SNP PYROXD2 ENST00000370575 human ensembl 70_37 -1 known missense c.872 p.S291C 0.999 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase - no_errors PYROXD2 HGNC QARS 5859 genome.wustl.edu 37 3 49137068 49137068 + Nonsense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 49137068 49137068 G T SNP QARS ENST00000306125 human ensembl 70_37 -1 known nonsense c.1401 p.Y467* 0.999 pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Gln-tRNA-synth_Ib pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_Gln-tRNA-synth_Ib_RNA-bd_2,superfamily_Ribosomal_L25/Gln-tRNA_synth,prints_Glu/Gln-tRNA-synth_Ib,tigrfam_Gln-tRNA-synth_Ib - no_errors QARS HGNC RAB11FIP2 22841 genome.wustl.edu 37 10 119798568 119798568 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 119798568 119798568 C T SNP RAB11FIP2 ENST00000369199 human ensembl 70_37 -1 known missense c.1180 p.E394K 1.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RAB11FIP2 HGNC RAB24 53917 genome.wustl.edu 37 5 176730095 176730095 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 176730095 176730095 G A SNP RAB24 ENST00000303270 human ensembl 70_37 -1 putative missense c.14 p.S5F 0.000 smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB24 HGNC RAB26 25837 genome.wustl.edu 37 16 2201870 2201870 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 2201870 2201870 C G SNP RAB26 ENST00000210187 human ensembl 70_37 +1 known silent c.429 p.L143 0.973 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB26 HGNC RAB3GAP2 25782 genome.wustl.edu 37 1 220363789 220363789 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 220363789 220363789 G A SNP RAB3GAP2 ENST00000358951 human ensembl 70_37 -1 known nonsense c.1561 p.Q521* 1.000 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC RAD54L 8438 genome.wustl.edu 37 1 46726987 46726987 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 46726987 46726987 C G SNP RAD54L ENST00000371975 human ensembl 70_37 +1 known missense c.821 p.S274C 1.000 pfam_SNF2_N,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_Rad54_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L HGNC RALGAPA1 253959 genome.wustl.edu 37 14 36211632 36211632 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 36211632 36211632 C G SNP RALGAPA1 ENST00000258840 human ensembl 70_37 -1 known missense c.1391 p.C464S 1.000 NULL pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPA1 HGNC RALGDS 5900 genome.wustl.edu 37 9 135985795 135985795 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 135985795 135985795 C G SNP RALGDS ENST00000542690 human ensembl 70_37 -1 known missense c.589 p.E197Q 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RALGDS HGNC RALYL 138046 genome.wustl.edu 37 8 85717004 85717004 + Splice_Site SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 85717004 85717004 G C SNP RALYL ENST00000521268 human ensembl 70_37 +1 known splice_site c.333-1 e3-1 1.000 - - - no_errors RALYL HGNC RAP2C 57826 genome.wustl.edu 37 X 131351087 131351087 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 131351087 131351087 G C SNP RAP2C ENST00000342983 human ensembl 70_37 -1 known silent c.210 p.L70 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAP2C HGNC RARB 5915 genome.wustl.edu 37 3 25542705 25542705 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 25542705 25542705 G C SNP RARB ENST00000404969 human ensembl 70_37 +1 known missense c.360 p.M120I 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARB HGNC RASA1 5921 genome.wustl.edu 37 5 86682699 86682699 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 86682699 86682699 C T SNP RASA1 ENST00000274376 human ensembl 70_37 +1 known silent c.2904 p.I968 1.000 superfamily_Rho_GTPase_activation_prot,smart_RasGAP pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC RASA2 5922 genome.wustl.edu 37 3 141289800 141289800 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 141289800 141289800 G A SNP RASA2 ENST00000452898 human ensembl 70_37 +1 known missense c.910 p.D304N 1.000 smart_RasGAP pfam_RasGAP,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA2 HGNC RASA2 5922 genome.wustl.edu 37 3 141289803 141289803 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 141289803 141289803 G A SNP RASA2 ENST00000452898 human ensembl 70_37 +1 known missense c.913 p.D305N 1.000 smart_RasGAP pfam_RasGAP,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA2 HGNC RASA2 5922 genome.wustl.edu 37 3 141290341 141290341 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 141290341 141290341 G A SNP RASA2 ENST00000452898 human ensembl 70_37 +1 known missense c.1114 p.D372N 1.000 superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA2 HGNC RASA2 5922 genome.wustl.edu 37 3 141291503 141291503 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 141291503 141291503 G A SNP RASA2 ENST00000452898 human ensembl 70_37 +1 known missense c.1222 p.E408K 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA2 HGNC RASAL1 8437 genome.wustl.edu 37 12 113537812 113537812 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 113537812 113537812 G A SNP RASAL1 ENST00000546530 human ensembl 70_37 -1 known silent c.2343 p.L781 0.000 NULL pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP - no_errors RASAL1 HGNC RASAL1 8437 genome.wustl.edu 37 12 113553053 113553053 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 113553053 113553053 G A SNP RASAL1 ENST00000546530 human ensembl 70_37 -1 known silent c.1020 p.L340 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP - no_errors RASAL1 HGNC RASGRP4 115727 genome.wustl.edu 37 19 38905556 38905556 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 38905556 38905556 C G SNP RASGRP4 ENST00000587738 human ensembl 70_37 -1 known missense c.1162 p.E388Q 1.000 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP4 HGNC RASSF4 83937 genome.wustl.edu 37 10 45477983 45477983 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 45477983 45477983 G A SNP RASSF4 ENST00000334940 human ensembl 70_37 +1 known silent c.99 p.L33 1.000 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH - no_errors RASSF4 HGNC RAVER1 125950 genome.wustl.edu 37 19 10441138 10441138 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 10441138 10441138 G T SNP RAVER1 ENST00000293677 human ensembl 70_37 -1 known missense c.335 p.T112K 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RAVER1 HGNC RB1 5925 genome.wustl.edu 37 13 48942733 48942733 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 48942733 48942733 C G SNP RB1 ENST00000267163 human ensembl 70_37 +1 known missense c.1120 p.P374A 1.000 pfam_RB_A pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like - no_errors RB1 HGNC RBBP8 5932 genome.wustl.edu 37 18 20564878 20564878 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 20564878 20564878 C T SNP RBBP8 ENST00000327155 human ensembl 70_37 +1 known missense c.634 p.H212Y 0.986 NULL pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP - no_errors RBBP8 HGNC RBL2 5934 genome.wustl.edu 37 16 53524767 53524767 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 53524767 53524767 C T SNP RBL2 ENST00000379935 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors RBL2 HGNC RBM20 282996 genome.wustl.edu 37 10 112541279 112541279 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 112541279 112541279 G A SNP RBM20 ENST00000369519 human ensembl 70_37 +1 known silent c.912 p.L304 0.557 NULL smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors RBM20 HGNC RBM20 282996 genome.wustl.edu 37 10 112541507 112541507 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 112541507 112541507 G A SNP RBM20 ENST00000369519 human ensembl 70_37 +1 known silent c.1140 p.R380 0.512 NULL smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors RBM20 HGNC RBM27 54439 genome.wustl.edu 37 5 145613045 145613045 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 145613045 145613045 C T SNP RBM27 ENST00000265271 human ensembl 70_37 +1 known nonsense c.883 p.Q295* 1.000 pfam_Znf_CCCH pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC RBM27 54439 genome.wustl.edu 37 5 145651202 145651202 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 145651202 145651202 G A SNP RBM27 ENST00000265271 human ensembl 70_37 +1 known missense c.2953 p.E985K 0.998 NULL pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC RBM34 23029 genome.wustl.edu 37 1 235299401 235299401 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 235299401 235299401 G C SNP RBM34 ENST00000495224 human ensembl 70_37 -1 known rna NULL NULL 0.096 - - - no_errors RBM34 HGNC RBM39 9584 genome.wustl.edu 37 20 34324513 34324513 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 34324513 34324513 G C SNP RBM39 ENST00000498280 human ensembl 70_37 -1 putative rna NULL NULL 0.115 - - - no_errors RBM39 HGNC RBM39 9584 genome.wustl.edu 37 20 34329876 34329876 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 34329876 34329876 C T SNP RBM39 ENST00000463098 human ensembl 70_37 -1 known rna NULL NULL 0.933 - - - no_errors RBM39 HGNC RBM43 375287 genome.wustl.edu 37 2 152107565 152107565 + Missense_Mutation SNP T T G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 152107565 152107565 T G SNP RBM43 ENST00000331426 human ensembl 70_37 -1 known missense c.929 p.K310T 0.000 NULL pfscan_RRM_dom - no_errors RBM43 HGNC RCSD1 92241 genome.wustl.edu 37 1 167673909 167673909 + Silent SNP T T C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 167673909 167673909 T C SNP RCSD1 ENST00000367854 human ensembl 70_37 +1 known silent c.1227 p.T409 0.000 NULL pfam_RCSD - no_errors RCSD1 HGNC RDH10 157506 genome.wustl.edu 37 8 74235004 74235004 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 74235004 74235004 C G SNP RDH10 ENST00000240285 human ensembl 70_37 +1 known missense c.861 p.I287M 1.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH10 HGNC RDH13 112724 genome.wustl.edu 37 19 55558771 55558771 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 55558771 55558771 G A SNP RDH13 ENST00000415061 human ensembl 70_37 -1 known silent c.744 p.F248 1.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH13 HGNC RECQL 5965 genome.wustl.edu 37 12 21629873 21629873 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 21629873 21629873 G C SNP RECQL ENST00000421138 human ensembl 70_37 -1 known silent c.921 p.L307 1.000 pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC RECQL4 9401 genome.wustl.edu 37 8 145737344 145737344 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 145737344 145737344 C G SNP RECQL4 ENST00000301323 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RECQL4 HGNC RELA 5970 genome.wustl.edu 37 11 65422192 65422192 + Missense_Mutation SNP T T A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 65422192 65422192 T A SNP RELA ENST00000406246 human ensembl 70_37 -1 known missense c.1313 p.E438V 0.992 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors RELA HGNC RELA 5970 genome.wustl.edu 37 11 65422193 65422193 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 65422193 65422193 C G SNP RELA ENST00000406246 human ensembl 70_37 -1 known missense c.1312 p.E438Q 0.932 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors RELA HGNC RELA 5970 genome.wustl.edu 37 11 65423153 65423153 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 65423153 65423153 C A SNP RELA ENST00000525693 human ensembl 70_37 -1 putative missense c.1039 p.D347Y 0.702 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors RELA HGNC RELA 5970 genome.wustl.edu 37 11 65423345 65423345 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 65423345 65423345 C T SNP RELA ENST00000406246 human ensembl 70_37 -1 known missense c.939 p.M313I 1.000 superfamily_Ig_E-set pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors RELA HGNC RELA 5970 genome.wustl.edu 37 11 65423365 65423365 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 65423365 65423365 C T SNP RELA ENST00000406246 human ensembl 70_37 -1 known missense c.919 p.E307K 0.991 superfamily_Ig_E-set pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors RELA HGNC RELA 5970 genome.wustl.edu 37 11 65423404 65423404 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 65423404 65423404 C T SNP RELA ENST00000406246 human ensembl 70_37 -1 known missense c.880 p.D294N 1.000 superfamily_Ig_E-set,prints_NF_Rel_dor pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors RELA HGNC RELA 5970 genome.wustl.edu 37 11 65429492 65429492 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 65429492 65429492 G A SNP RELA ENST00000406246 human ensembl 70_37 -1 known silent c.102 p.F34 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD,prints_NF_Rel_dor pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors RELA HGNC RELL2 285613 genome.wustl.edu 37 5 141018420 141018420 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 141018420 141018420 G A SNP RELL2 ENST00000297164 human ensembl 70_37 +1 known silent c.243 p.Q81 1.000 NULL pfam_TNF_rcpt_RELT - no_errors RELL2 HGNC RFC1 5981 genome.wustl.edu 37 4 39313115 39313115 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 39313115 39313115 G A SNP RFC1 ENST00000381897 human ensembl 70_37 -1 known missense c.1438 p.R480W 1.000 superfamily_BRCT_dom,smart_BRCT_dom,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom - no_errors RFC1 HGNC RFT1 91869 genome.wustl.edu 37 3 53133448 53133448 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 53133448 53133448 C A SNP RFT1 ENST00000296292 human ensembl 70_37 -1 known missense c.1157 p.G386V 1.000 pfam_RFT1 pfam_RFT1 - no_errors RFT1 HGNC RGAG1 57529 genome.wustl.edu 37 X 109696910 109696910 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 109696910 109696910 C T SNP RGAG1 ENST00000465301 human ensembl 70_37 +1 known missense c.3065 p.S1022F 0.086 NULL NULL - no_errors RGAG1 HGNC RGL2 5863 genome.wustl.edu 37 6 33260080 33260080 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 33260080 33260080 G C SNP RGL2 ENST00000497454 human ensembl 70_37 -1 known missense c.2133 p.I711M 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL2 HGNC RGPD3 653489 genome.wustl.edu 37 2 107041359 107041359 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 107041359 107041359 C T SNP RGPD3 ENST00000304514 human ensembl 70_37 -1 known missense c.3064 p.E1022K 0.997 NULL 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 RGS19 10287 genome.wustl.edu 37 20 62705602 62705602 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 62705602 62705602 G A SNP RGS19 ENST00000332298 human ensembl 70_37 -1 known silent c.357 p.F119 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS19 HGNC RGS7 6000 genome.wustl.edu 37 1 241032110 241032110 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 241032110 241032110 C T SNP RGS7 ENST00000407727 human ensembl 70_37 -1 known missense c.493 p.E165K 1.000 NULL pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS7 HGNC RHAG 6005 genome.wustl.edu 37 6 49578773 49578773 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 49578773 49578773 G A SNP RHAG ENST00000371175 human ensembl 70_37 -1 known missense c.1031 p.A344V 0.830 pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHAG HGNC RHOA 387 genome.wustl.edu 37 3 49397643 49397643 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 49397643 49397643 C T SNP RHOA ENST00000418115 human ensembl 70_37 -1 known silent c.581 p.*194 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOA HGNC RHOA 387 genome.wustl.edu 37 3 49397710 49397710 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 49397710 49397710 C G SNP RHOA ENST00000418115 human ensembl 70_37 -1 known missense c.514 p.E172Q 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOA HGNC RHOBTB2 23221 genome.wustl.edu 37 8 22852085 22852085 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 22852085 22852085 G A SNP RHOBTB2 ENST00000518534 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RHOBTB2 HGNC RHOT1 55288 genome.wustl.edu 37 17 30520242 30520242 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 30520242 30520242 G A SNP RHOT1 ENST00000358365 human ensembl 70_37 +1 known missense c.727 p.D243N 1.000 pfam_EF_hand_assoc_2,pirsf_Small_GTPase_Miro pfam_MIRO-like,pfam_EF_hand_assoc_2,pfam_EF_hand_assoc_1,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_EF_hand_Ca-bd,pirsf_Small_GTPase_Miro,pfscan_EF_HAND_2,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOT1 HGNC RIMBP3 85376 genome.wustl.edu 37 22 20457737 20457737 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 20457737 20457737 G A SNP RIMBP3 ENST00000426804 human ensembl 70_37 -1 known missense c.3565 p.H1189Y 0.000 superfamily_Fibronectin_type3 pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,pfscan_SH3_domain - no_errors RIMBP3 HGNC RIMKLA 284716 genome.wustl.edu 37 1 42865153 42865153 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 42865153 42865153 C T SNP RIMKLA ENST00000431473 human ensembl 70_37 +1 known missense c.242 p.S81L 0.988 tigrfam_RpS6_RimK/Lys_biosynth_LsyX pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX - no_errors RIMKLA HGNC RIN1 9610 genome.wustl.edu 37 11 66099733 66099733 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 66099733 66099733 C T SNP RIN1 ENST00000424433 human ensembl 70_37 -1 known missense c.1768 p.E590K 0.002 pfscan_Ras-assoc pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,pfscan_Ras-assoc,pfscan_VPS9 - no_errors RIN1 HGNC RIPK1 8737 genome.wustl.edu 37 6 3106006 3106006 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 3106006 3106006 G A SNP RIPK1 ENST00000259808 human ensembl 70_37 +1 known missense c.1297 p.E433K 0.006 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Death,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK1 HGNC RNF112 7732 genome.wustl.edu 37 17 19316316 19316316 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 19316316 19316316 C G SNP RNF112 ENST00000461366 human ensembl 70_37 +1 novel missense c.447 p.I149M 0.581 NULL pfam_Guanylate-bd_N,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF112 HGNC RNF167 26001 genome.wustl.edu 37 17 4844434 4844434 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 4844434 4844434 G A SNP RNF167 ENST00000262482 human ensembl 70_37 +1 known silent c.147 p.L49 0.998 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF167 HGNC RNF216 54476 genome.wustl.edu 37 7 5779184 5779184 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 5779184 5779184 G C SNP RNF216 ENST00000389900 human ensembl 70_37 -1 known silent c.942 p.L314 0.001 NULL NULL - no_errors RNF216 HGNC RNF40 9810 genome.wustl.edu 37 16 30780684 30780684 + Nonsense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 30780684 30780684 G T SNP RNF40 ENST00000324685 human ensembl 70_37 +1 known nonsense c.2425 p.E809* 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC RNF40 9810 genome.wustl.edu 37 16 30783259 30783259 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 30783259 30783259 C G SNP RNF40 ENST00000324685 human ensembl 70_37 +1 known missense c.2692 p.R898G 0.996 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC ROBO1 6091 genome.wustl.edu 37 3 78663894 78663894 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 78663894 78663894 C G SNP ROBO1 ENST00000464233 human ensembl 70_37 -1 known missense c.4339 p.D1447H 1.000 NULL 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 ROCK1P1 727758 genome.wustl.edu 37 18 112533 112533 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 112533 112533 C G SNP ROCK1P1 ENST00000576266 human ensembl 70_37 +1 known rna NULL NULL 0.774 - - - no_errors ROCK1P1 HGNC RP1 6101 genome.wustl.edu 37 8 55537806 55537806 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 55537806 55537806 G C SNP RP1 ENST00000220676 human ensembl 70_37 +1 known missense c.1364 p.R455T 0.998 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC RP1 6101 genome.wustl.edu 37 8 55541492 55541492 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 55541492 55541492 G A SNP RP1 ENST00000220676 human ensembl 70_37 +1 known missense c.5050 p.E1684K 0.049 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC RPA1 6117 genome.wustl.edu 37 17 1756397 1756397 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 1756397 1756397 G C SNP RPA1 ENST00000254719 human ensembl 70_37 +1 known missense c.275 p.R92T 1.000 pfam_Rep_factor-A_N,superfamily_NA-bd_OB-fold-like,tigrfam_Rep_factor_Rpa1 pfam_Rep_factor-A_C,pfam_Rep_factor-A_N,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,tigrfam_Rep_factor_Rpa1 - no_errors RPA1 HGNC RPAP1 26015 genome.wustl.edu 37 15 41815045 41815045 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 41815045 41815045 G C SNP RPAP1 ENST00000304330 human ensembl 70_37 -1 known nonsense c.2660 p.S887* 1.000 NULL pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC RPL10A 4736 genome.wustl.edu 37 6 35436280 35436280 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 35436280 35436280 C G SNP RPL10A ENST00000464112 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RPL10A HGNC RPL11 6135 genome.wustl.edu 37 1 24022845 24022845 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 24022845 24022845 C T SNP RPL11 ENST00000374550 human ensembl 70_37 +1 known silent c.519 p.I173 1.000 superfamily_Ribosomal_L5_domain,pirsf_Ribosomal_L5 pfam_Ribosomal_L5,superfamily_Ribosomal_L5_domain,pirsf_Ribosomal_L5 - no_errors RPL11 HGNC RPL28 6158 genome.wustl.edu 37 19 55899502 55899502 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 55899502 55899502 G A SNP RPL28 ENST00000560583 human ensembl 70_37 +1 known nonsense c.410 p.W137* 0.000 NULL NULL - no_errors RPL28 HGNC RPL28 6158 genome.wustl.edu 37 19 55899505 55899505 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 55899505 55899505 G A SNP RPL28 ENST00000560583 human ensembl 70_37 +1 known missense c.413 p.R138K 0.000 NULL NULL - no_errors RPL28 HGNC RPL28 6158 genome.wustl.edu 37 19 55899664 55899664 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 55899664 55899664 G A SNP RPL28 ENST00000344063 human ensembl 70_37 +1 known silent c.378 p.V126 1.000 NULL NULL - no_errors RPL28 HGNC RPLP0 6175 genome.wustl.edu 37 12 120634585 120634585 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 120634585 120634585 G C SNP RPLP0 ENST00000228306 human ensembl 70_37 -1 known silent c.945 p.L315 0.995 pfam_Ribosomal_60S pfam_Ribosomal_L10/acidic_P0,pfam_Ribosomal_60S - no_errors RPLP0 HGNC RPRD2 23248 genome.wustl.edu 37 1 150429953 150429953 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 150429953 150429953 G A SNP RPRD2 ENST00000369068 human ensembl 70_37 +1 known missense c.1060 p.E354K 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_RNA_polymerase_II_lsu_CTD - no_errors RPRD2 HGNC RPS19 6223 genome.wustl.edu 37 19 42364871 42364871 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 42364871 42364871 G C SNP RPS19 ENST00000593863 human ensembl 70_37 +1 known silent c.27 p.V9 0.998 pfam_Ribosomal_S19e pfam_Ribosomal_S19e - no_errors RPS19 HGNC RPS29 6235 genome.wustl.edu 37 14 50050372 50050372 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 50050372 50050372 G C SNP RPS29 ENST00000557111 human ensembl 70_37 -1 putative rna NULL NULL 0.043 - - - no_errors RPS29 HGNC RPS6KA2 6196 genome.wustl.edu 37 6 166873007 166873007 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 166873007 166873007 G C SNP RPS6KA2 ENST00000510118 human ensembl 70_37 -1 known missense c.1080 p.F360L 1.000 superfamily_Kinase-like_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors RPS6KA2 HGNC RPS6KA6 27330 genome.wustl.edu 37 X 83351282 83351282 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 83351282 83351282 C G SNP RPS6KA6 ENST00000262752 human ensembl 70_37 -1 known missense c.1891 p.E631Q 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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom - no_errors RPS6KA6 HGNC RPS7 6201 genome.wustl.edu 37 2 3623257 3623257 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 3623257 3623257 G C SNP RPS7 ENST00000304921 human ensembl 70_37 +1 known missense c.58 p.E20Q 1.000 pfam_Ribosomal_S7e pfam_Ribosomal_S7e - no_errors RPS7 HGNC RPS9 6203 genome.wustl.edu 37 19 54711421 54711421 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 54711421 54711421 G C SNP RPS9 ENST00000302907 human ensembl 70_37 +1 known missense c.563 p.G188A 0.418 NULL pfam_Ribosomal_S4/S9_N,pfam_S4_RNA-bd,smart_S4_RNA-bd,pfscan_S4_RNA-bd,tigrfam_Ribosomal_S4/S9_euk/arc - no_errors RPS9 HGNC RPTOR 57521 genome.wustl.edu 37 17 78796986 78796986 + Missense_Mutation SNP A A T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 78796986 78796986 A T SNP RPTOR ENST00000306801 human ensembl 70_37 +1 known missense c.1099 p.S367C 1.000 NULL 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 RRAS 6237 genome.wustl.edu 37 19 50139083 50139083 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 50139083 50139083 G A SNP RRAS ENST00000246792 human ensembl 70_37 -1 known silent c.480 p.F160 0.006 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RRAS HGNC RREB1 6239 genome.wustl.edu 37 6 7229752 7229752 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 7229752 7229752 C T SNP RREB1 ENST00000379938 human ensembl 70_37 +1 known silent c.1420 p.L474 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC RRP1B 23076 genome.wustl.edu 37 21 45094547 45094547 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 45094547 45094547 G A SNP RRP1B ENST00000340648 human ensembl 70_37 +1 known missense c.388 p.E130K 1.000 pfam_Nop52 pfam_Nop52 - no_errors RRP1B HGNC RRP1B 23076 genome.wustl.edu 37 21 45094945 45094945 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 45094945 45094945 G C SNP RRP1B ENST00000340648 human ensembl 70_37 +1 known missense c.450 p.M150I 1.000 pfam_Nop52 pfam_Nop52 - no_errors RRP1B HGNC RSBN1 54665 genome.wustl.edu 37 1 114340197 114340197 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 114340197 114340197 C G SNP RSBN1 ENST00000261441 human ensembl 70_37 -1 known missense c.1165 p.E389Q 1.000 NULL NULL - no_errors RSBN1 HGNC RSG1 79363 genome.wustl.edu 37 1 16558761 16558761 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16558761 16558761 C T SNP RSG1 ENST00000375599 human ensembl 70_37 -1 known missense c.559 p.E187K 0.999 pfam_Small_GTPase pfam_MIRO-like,pfam_Small_GTPase,prints_Small_GTPase - no_errors RSG1 HGNC RSPH1 89765 genome.wustl.edu 37 21 43912934 43912934 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 43912934 43912934 C G SNP RSPH1 ENST00000291536 human ensembl 70_37 -1 known missense c.208 p.E70Q 0.999 pfam_MORN,smart_MORN pfam_MORN,smart_MORN - no_errors RSPH1 HGNC RTF1 23168 genome.wustl.edu 37 15 41766883 41766883 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 41766883 41766883 C G SNP RTF1 ENST00000389629 human ensembl 70_37 +1 known missense c.1269 p.N423K 1.000 pfam_Plus-3,smart_Plus3-dom_subgr pfam_Plus-3,smart_Plus3-dom_subgr - no_errors RTF1 HGNC RTKN2 219790 genome.wustl.edu 37 10 64028352 64028352 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 64028352 64028352 C T SNP RTKN2 ENST00000373789 human ensembl 70_37 -1 known silent c.18 p.L6 0.000 NULL pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors RTKN2 HGNC RTN3 10313 genome.wustl.edu 37 11 63488456 63488456 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 63488456 63488456 G A SNP RTN3 ENST00000377819 human ensembl 70_37 +1 known missense c.2482 p.E828K 1.000 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC RTP2 344892 genome.wustl.edu 37 3 187416340 187416340 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 187416340 187416340 G A SNP RTP2 ENST00000358241 human ensembl 70_37 -1 known silent c.624 p.L208 0.926 NULL NULL - no_errors RTP2 HGNC RTTN 25914 genome.wustl.edu 37 18 67833312 67833312 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 67833312 67833312 G C SNP RTTN ENST00000255674 human ensembl 70_37 -1 known missense c.1915 p.L639V 0.995 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC RUVBL1 8607 genome.wustl.edu 37 3 127816255 127816255 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 127816255 127816255 C T SNP RUVBL1 ENST00000322623 human ensembl 70_37 -1 known missense c.904 p.D302N 1.000 pfam_TIP49_C,smart_AAA+_ATPase pfam_TIP49_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA_core,superfamily_NA-bd_OB-fold-like,smart_AAA+_ATPase - no_errors RUVBL1 HGNC RYR1 6261 genome.wustl.edu 37 19 39056336 39056336 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 39056336 39056336 C T SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known silent c.13362 p.L4454 0.999 pfam_Ryanrecept_TM4-6 pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC RYR1 6261 genome.wustl.edu 37 19 39063865 39063865 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 39063865 39063865 G C SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known missense c.14047 p.E4683Q 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC RYR2 6262 genome.wustl.edu 37 1 237433906 237433906 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 237433906 237433906 C T SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.151 p.P51S 1.000 pfam_Ins145_P3_rcpt pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,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 SAP130 79595 genome.wustl.edu 37 2 128767909 128767909 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 128767909 128767909 G C SNP SAP130 ENST00000357702 human ensembl 70_37 -1 known nonsense c.881 p.S294* 1.000 NULL NULL - no_errors SAP130 HGNC SART3 9733 genome.wustl.edu 37 12 108919340 108919340 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 108919340 108919340 G C SNP SART3 ENST00000228284 human ensembl 70_37 -1 known nonsense c.2417 p.S806* 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom - no_errors SART3 HGNC SASH1 23328 genome.wustl.edu 37 6 148761536 148761536 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 148761536 148761536 G C SNP SASH1 ENST00000367467 human ensembl 70_37 +1 known missense c.379 p.E127Q 1.000 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC SCAP 22937 genome.wustl.edu 37 3 47465422 47465422 + Splice_Site SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 47465422 47465422 C G SNP SCAP ENST00000265565 human ensembl 70_37 -1 known splice_site c.1150+1 e8+1 1.000 - - - no_errors SCAP HGNC SCARF2 91179 genome.wustl.edu 37 22 20784796 20784796 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 20784796 20784796 G A SNP SCARF2 ENST00000405555 human ensembl 70_37 -1 known silent c.1122 p.F374 1.000 superfamily_Growth_fac_rcpt,smart_EG-like_dom pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF2 HGNC SCLT1 132320 genome.wustl.edu 37 4 129878270 129878270 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 129878270 129878270 C G SNP SCLT1 ENST00000281142 human ensembl 70_37 -1 known missense c.1057 p.E353Q 0.986 NULL NULL - no_errors SCLT1 HGNC SCN2A 6326 genome.wustl.edu 37 2 166152517 166152517 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 166152517 166152517 C G SNP SCN2A ENST00000283256 human ensembl 70_37 +1 known missense c.184 p.L62V 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC SCN2A 6326 genome.wustl.edu 37 2 166188012 166188012 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 166188012 166188012 C G SNP SCN2A ENST00000283256 human ensembl 70_37 +1 known silent c.2322 p.L774 0.966 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC SCN9A 6335 genome.wustl.edu 37 2 167108373 167108373 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 167108373 167108373 G C SNP SCN9A ENST00000303354 human ensembl 70_37 -1 known nonsense c.3377 p.S1126* 1.000 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC SCNN1A 6337 genome.wustl.edu 37 12 6472857 6472857 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 6472857 6472857 C G SNP SCNN1A ENST00000358945 human ensembl 70_37 -1 known missense c.436 p.E146Q 0.715 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1A HGNC SCUBE1 80274 genome.wustl.edu 37 22 43627873 43627873 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 43627873 43627873 C T SNP SCUBE1 ENST00000360835 human ensembl 70_37 -1 known missense c.853 p.E285K 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom pfam_EGF-like_Ca-bd,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors SCUBE1 HGNC SCYL2 55681 genome.wustl.edu 37 12 100704857 100704857 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 100704857 100704857 G A SNP SCYL2 ENST00000360820 human ensembl 70_37 +1 known silent c.516 p.V172 0.994 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 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors SCYL2 HGNC SDE2 163859 genome.wustl.edu 37 1 226179020 226179020 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 226179020 226179020 C T SNP SDE2 ENST00000272091 human ensembl 70_37 -1 known missense c.565 p.E189K 0.145 NULL superfamily_Mopterin_synth/thiamin_S_b - no_errors SDE2 HGNC SDHAF2 54949 genome.wustl.edu 37 11 61197647 61197647 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 61197647 61197647 C T SNP SDHAF2 ENST00000301761 human ensembl 70_37 +1 known missense c.29 p.S10L 0.009 NULL pfam_DUF339,superfamily_DUF339 - no_errors SDHAF2 HGNC SEC16A 9919 genome.wustl.edu 37 9 139371806 139371806 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 139371806 139371806 G A SNP SEC16A ENST00000313050 human ensembl 70_37 -1 known nonsense c.262 p.Q88* 1.000 NULL NULL - no_errors SEC16A HGNC SEC24C 9632 genome.wustl.edu 37 10 75529389 75529389 + Silent SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 75529389 75529389 G T SNP SEC24C ENST00000339365 human ensembl 70_37 +1 known silent c.2580 p.L860 0.150 pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24C HGNC SEL1L3 23231 genome.wustl.edu 37 4 25806331 25806331 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 25806331 25806331 C G SNP SEL1L3 ENST00000399878 human ensembl 70_37 -1 known missense c.1608 p.K536N 1.000 NULL pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like - no_errors SEL1L3 HGNC SEMA3A 10371 genome.wustl.edu 37 7 83610767 83610767 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 83610767 83610767 C T SNP SEMA3A ENST00000265362 human ensembl 70_37 -1 known missense c.1522 p.G508R 1.000 superfamily_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,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 SEMA3A HGNC SEMA4F 10505 genome.wustl.edu 37 2 74900842 74900842 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 74900842 74900842 G A SNP SEMA4F ENST00000357877 human ensembl 70_37 +1 known missense c.709 p.E237K 0.304 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA4F HGNC SEMA6A 57556 genome.wustl.edu 37 5 115814368 115814368 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 115814368 115814368 G C SNP SEMA6A ENST00000257414 human ensembl 70_37 -1 known missense c.1297 p.Q433E 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6A HGNC SENP7 57337 genome.wustl.edu 37 3 101046647 101046647 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 101046647 101046647 C G SNP SENP7 ENST00000394095 human ensembl 70_37 -1 known missense c.2878 p.E960Q 1.000 pfam_Peptidase_C48,pfscan_Peptidase_C48 pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP7 HGNC SEPHS2 22928 genome.wustl.edu 37 16 30456155 30456155 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 30456155 30456155 G C SNP SEPHS2 ENST00000542752 human ensembl 70_37 -1 known silent c.723 p.L241 0.010 pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,pirsf_SelD,tigrfam_SelD pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD - no_errors SEPHS2 HGNC SEPT1 1731 genome.wustl.edu 37 16 30392728 30392728 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 30392728 30392728 C G SNP SEPT1 ENST00000321367 human ensembl 70_37 -1 known silent c.387 p.L129 1.000 pfam_Cell_div_GTP-bd,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pirsf_Septin - no_errors SEPT1 HGNC SERP1 27230 genome.wustl.edu 37 3 150263566 150263566 + Splice_Site SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 150263566 150263566 C T SNP SERP1 ENST00000239944 human ensembl 70_37 -1 known splice_site c.85-1 e2-1 1.000 - - - no_errors SERP1 HGNC SETD1A 9739 genome.wustl.edu 37 16 30991903 30991903 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 30991903 30991903 C T SNP SETD1A ENST00000262519 human ensembl 70_37 +1 known silent c.4506 p.I1502 1.000 pfam_COMPASS_Set1_N-SET pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1A HGNC SETD8 387893 genome.wustl.edu 37 12 123875255 123875255 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 123875255 123875255 C T SNP SETD8 ENST00000330479 human ensembl 70_37 +1 known nonsense c.211 p.Q71* 1.000 pirsf_Hist_H4-K20_MeTrfase pfam_SET_dom,smart_SET_dom,pirsf_Hist_H4-K20_MeTrfase,pfscan_SET_dom - no_errors SETD8 HGNC SETDB1 9869 genome.wustl.edu 37 1 150923106 150923106 + Silent SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 150923106 150923106 C A SNP SETDB1 ENST00000271640 human ensembl 70_37 +1 known silent c.1753 p.R585 1.000 NULL pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC SETX 23064 genome.wustl.edu 37 9 135211731 135211731 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 135211731 135211731 G C SNP SETX ENST00000372169 human ensembl 70_37 -1 known missense c.670 p.L224V 1.000 NULL NULL - no_errors SETX HGNC SEZ6L 23544 genome.wustl.edu 37 22 26747131 26747131 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 26747131 26747131 G C SNP SEZ6L ENST00000248933 human ensembl 70_37 +1 known missense c.2521 p.E841Q 0.997 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC SF3A1 10291 genome.wustl.edu 37 22 30736706 30736706 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 30736706 30736706 G C SNP SF3A1 ENST00000215793 human ensembl 70_37 -1 known silent c.1167 p.V389 0.957 pfam_PRP21-like pfam_PRP21-like,pfam_Surp,pfam_Ubiquitin,superfamily_Surp,smart_Surp,smart_Ubiquitin,pfscan_Surp,pfscan_Ubiquitin_supergroup - no_errors SF3A1 HGNC SFMBT1 51460 genome.wustl.edu 37 3 52988418 52988418 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 52988418 52988418 G A SNP SFMBT1 ENST00000358080 human ensembl 70_37 -1 known missense c.38 p.S13F 1.000 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT1 HGNC SFXN5 94097 genome.wustl.edu 37 2 73171779 73171779 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 73171779 73171779 C G SNP SFXN5 ENST00000461352 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SFXN5 HGNC SGCG 6445 genome.wustl.edu 37 13 23777968 23777968 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 23777968 23777968 C T SNP SGCG ENST00000218867 human ensembl 70_37 +1 known silent c.135 p.I45 1.000 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCG HGNC SH3BP5-AS1 100505696 genome.wustl.edu 37 3 15297502 15297502 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 15297502 15297502 G C SNP SH3BP5-AS1 ENST00000420195 human ensembl 70_37 +1 known rna NULL NULL 0.435 - - - no_errors SH3BP5-AS1 HGNC SH3BP5L 80851 genome.wustl.edu 37 1 249105132 249105132 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 249105132 249105132 G A SNP SH3BP5L ENST00000475978 human ensembl 70_37 -1 known rna NULL NULL 0.318 - - - no_errors SH3BP5L HGNC SH3D19 152503 genome.wustl.edu 37 4 152065075 152065075 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 152065075 152065075 C G SNP SH3D19 ENST00000304527 human ensembl 70_37 -1 known missense c.1439 p.R480T 0.008 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SH3D19 HGNC SH3D21 79729 genome.wustl.edu 37 1 36785319 36785319 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 36785319 36785319 G A SNP SH3D21 ENST00000453908 human ensembl 70_37 +1 known missense c.1055 p.R352K 0.002 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors SH3D21 HGNC SH3RF2 153769 genome.wustl.edu 37 5 145379738 145379738 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 145379738 145379738 G A SNP SH3RF2 ENST00000359120 human ensembl 70_37 +1 known missense c.496 p.E166K 1.000 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain - no_errors SH3RF2 HGNC SHARPIN 81858 genome.wustl.edu 37 8 145158082 145158082 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 145158082 145158082 C T SNP SHARPIN ENST00000398712 human ensembl 70_37 -1 known missense c.248 p.G83D 0.131 NULL pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors SHARPIN HGNC SHISA4 149345 genome.wustl.edu 37 1 201859683 201859683 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 201859683 201859683 G A SNP SHISA4 ENST00000362011 human ensembl 70_37 +1 known missense c.347 p.R116H 1.000 NULL NULL - no_errors SHISA4 HGNC SHMT2 6472 genome.wustl.edu 37 12 57625512 57625512 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 57625512 57625512 G C SNP SHMT2 ENST00000328923 human ensembl 70_37 +1 known missense c.328 p.E110Q 1.000 pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Ser_HO-MeTrfase pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Ser_HO-MeTrfase - no_errors SHMT2 HGNC SHROOM2 357 genome.wustl.edu 37 X 9914963 9914963 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 9914963 9914963 G A SNP SHROOM2 ENST00000380913 human ensembl 70_37 +1 known missense c.4837 p.E1613K 0.939 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC SIDT2 51092 genome.wustl.edu 37 11 117054546 117054546 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 117054546 117054546 G A SNP SIDT2 ENST00000278951 human ensembl 70_37 +1 known missense c.754 p.E252K 0.999 NULL NULL - no_errors SIDT2 HGNC SIGIRR 59307 genome.wustl.edu 37 11 405938 405938 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 405938 405938 G A SNP SIGIRR ENST00000382520 human ensembl 70_37 -1 known missense c.1480 p.P494S 0.920 NULL pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1 - no_errors SIGIRR HGNC SIK2 23235 genome.wustl.edu 37 11 111573944 111573944 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 111573944 111573944 C T SNP SIK2 ENST00000304987 human ensembl 70_37 +1 known nonsense c.745 p.R249* 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,pirsf_Ser/Thr_kinase_SIK1/2,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,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC SIK2 23235 genome.wustl.edu 37 11 111594257 111594257 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 111594257 111594257 C G SNP SIK2 ENST00000304987 human ensembl 70_37 +1 known missense c.2185 p.Q729E 1.000 pirsf_Ser/Thr_kinase_SIK1/2 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,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC SIM2 6493 genome.wustl.edu 37 21 38081692 38081692 + RNA SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 38081692 38081692 C A SNP SIM2 ENST00000460783 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SIM2 HGNC SIMC1 375484 genome.wustl.edu 37 5 175763857 175763857 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 175763857 175763857 C T SNP SIMC1 ENST00000443967 human ensembl 70_37 +1 known missense c.2249 p.S750F 0.990 NULL NULL - no_errors SIMC1 HGNC SIN3A 25942 genome.wustl.edu 37 15 75682011 75682011 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 75682011 75682011 G A SNP SIN3A ENST00000360439 human ensembl 70_37 -1 known silent c.3003 p.I1001 1.000 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3A HGNC SIN3B 23309 genome.wustl.edu 37 19 16988416 16988416 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 16988416 16988416 G A SNP SIN3B ENST00000379803 human ensembl 70_37 +1 known missense c.3016 p.E1006K 1.000 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3B HGNC SIPA1L1 26037 genome.wustl.edu 37 14 72169169 72169169 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 72169169 72169169 G C SNP SIPA1L1 ENST00000555818 human ensembl 70_37 +1 known missense c.3593 p.G1198A 1.000 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L1 HGNC SIRT4 23409 genome.wustl.edu 37 12 120750316 120750316 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 120750316 120750316 C G SNP SIRT4 ENST00000202967 human ensembl 70_37 +1 known missense c.555 p.F185L 0.015 pfam_Sirtuin,pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT4 HGNC SIRT4 23409 genome.wustl.edu 37 12 120750384 120750384 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 120750384 120750384 C T SNP SIRT4 ENST00000202967 human ensembl 70_37 +1 known missense c.623 p.S208L 0.995 pfam_Sirtuin,pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT4 HGNC SKA2 348235 genome.wustl.edu 37 17 57189557 57189557 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 57189557 57189557 C G SNP SKA2 ENST00000583927 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors SKA2 HGNC SKIL 6498 genome.wustl.edu 37 3 170078591 170078591 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 170078591 170078591 C G SNP SKIL ENST00000259119 human ensembl 70_37 +1 known missense c.472 p.Q158E 1.000 pfam_Transform_Ski,superfamily_DNA-bd_dom_put pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKIL HGNC SKIV2L2 23517 genome.wustl.edu 37 5 54654485 54654485 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 54654485 54654485 G C SNP SKIV2L2 ENST00000230640 human ensembl 70_37 +1 known missense c.1618 p.D540H 1.000 pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_C pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L2 HGNC SLC10A2 6555 genome.wustl.edu 37 13 103698551 103698551 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 103698551 103698551 C G SNP SLC10A2 ENST00000245312 human ensembl 70_37 -1 known missense c.979 p.E327Q 0.000 NULL pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A2 HGNC SLC11A2 4891 genome.wustl.edu 37 12 51382141 51382141 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 51382141 51382141 C T SNP SLC11A2 ENST00000394904 human ensembl 70_37 -1 known silent c.1740 p.L580 0.978 NULL pfam_Nat-R-assoc-macro_Nramp,prints_Nat-R-assoc-macro_Nramp,tigrfam_Nat-R-assoc-macro_Nramp - no_errors SLC11A2 HGNC SLC12A8 84561 genome.wustl.edu 37 3 124802869 124802869 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 124802869 124802869 G A SNP SLC12A8 ENST00000423114 human ensembl 70_37 -1 known silent c.2097 p.I699 0.725 NULL pfam_AA-permease_dom,superfamily_ABC_transptrTM_dom_typ1 - no_errors SLC12A8 HGNC SLC13A5 284111 genome.wustl.edu 37 17 6604421 6604421 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 6604421 6604421 G A SNP SLC13A5 ENST00000433363 human ensembl 70_37 -1 known silent c.741 p.L247 0.003 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A5 HGNC SLC15A2 6565 genome.wustl.edu 37 3 121647222 121647222 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 121647222 121647222 G A SNP SLC15A2 ENST00000465060 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC15A2 HGNC SLC17A7 57030 genome.wustl.edu 37 19 49934389 49934389 + Silent SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 49934389 49934389 C A SNP SLC17A7 ENST00000221485 human ensembl 70_37 -1 known silent c.1272 p.V424 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A7 HGNC SLC17A8 246213 genome.wustl.edu 37 12 100813924 100813924 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 100813924 100813924 C T SNP SLC17A8 ENST00000323346 human ensembl 70_37 +1 known missense c.1757 p.S586L 1.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A8 HGNC SLC1A5 6510 genome.wustl.edu 37 19 47282071 47282071 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 47282071 47282071 G C SNP SLC1A5 ENST00000542575 human ensembl 70_37 -1 known missense c.919 p.L307V 0.989 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A5 HGNC SLC1A7 6512 genome.wustl.edu 37 1 53580642 53580642 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 53580642 53580642 C G SNP SLC1A7 ENST00000371494 human ensembl 70_37 -1 known missense c.219 p.L73F 1.000 pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A7 HGNC SLC22A13 9390 genome.wustl.edu 37 3 38307700 38307700 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 38307700 38307700 G A SNP SLC22A13 ENST00000311856 human ensembl 70_37 +1 known missense c.349 p.E117K 0.015 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A13 HGNC SLC22A14 9389 genome.wustl.edu 37 3 38354944 38354944 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 38354944 38354944 C G SNP SLC22A14 ENST00000273173 human ensembl 70_37 +1 known silent c.1131 p.L377 0.592 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A14 HGNC SLC24A3 57419 genome.wustl.edu 37 20 19634743 19634743 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 19634743 19634743 C T SNP SLC24A3 ENST00000328041 human ensembl 70_37 +1 known missense c.650 p.S217F 0.979 pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A3 HGNC SLC25A22 79751 genome.wustl.edu 37 11 794835 794835 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 794835 794835 G A SNP SLC25A22 ENST00000320230 human ensembl 70_37 -1 known silent c.87 p.I29 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A22 HGNC SLC25A4 291 genome.wustl.edu 37 4 186064507 186064507 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 186064507 186064507 G A SNP SLC25A4 ENST00000515584 human ensembl 70_37 +1 putative rna NULL NULL 0.227 - - - no_errors SLC25A4 HGNC SLC25A44 9673 genome.wustl.edu 37 1 156169884 156169884 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 156169884 156169884 C T SNP SLC25A44 ENST00000359511 human ensembl 70_37 +1 known silent c.246 p.F82 0.999 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A44 HGNC SLC25A46 91137 genome.wustl.edu 37 5 110091080 110091080 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 110091080 110091080 G C SNP SLC25A46 ENST00000513706 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors SLC25A46 HGNC SLC29A1 2030 genome.wustl.edu 37 6 44197428 44197428 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 44197428 44197428 G C SNP SLC29A1 ENST00000313248 human ensembl 70_37 +1 known missense c.451 p.E151Q 0.001 superfamily_MFS_dom_general_subst_transpt,tigrfam_Eqnu_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt - no_errors SLC29A1 HGNC SLC29A1 2030 genome.wustl.edu 37 6 44197920 44197920 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 44197920 44197920 G A SNP SLC29A1 ENST00000472176 human ensembl 70_37 +1 known rna NULL NULL 0.159 - - - no_errors SLC29A1 HGNC SLC29A3 55315 genome.wustl.edu 37 10 73122362 73122362 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 73122362 73122362 C G SNP SLC29A3 ENST00000373189 human ensembl 70_37 +1 known missense c.1425 p.I475M 1.000 NULL pfam_Eqnu_transpt,prints_Eqnu_transpt - no_errors SLC29A3 HGNC SLC30A10 55532 genome.wustl.edu 37 1 220091631 220091631 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 220091631 220091631 C T SNP SLC30A10 ENST00000366926 human ensembl 70_37 -1 known silent c.924 p.Q308 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A10 HGNC SLC35A1 10559 genome.wustl.edu 37 6 88218210 88218210 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 88218210 88218210 C T SNP SLC35A1 ENST00000369552 human ensembl 70_37 +1 known missense c.647 p.S216L 1.000 pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A1 HGNC SLC35B1 10237 genome.wustl.edu 37 17 47781577 47781577 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 47781577 47781577 C T SNP SLC35B1 ENST00000415270 human ensembl 70_37 -1 known silent c.651 p.L217 1.000 pfam_UAA pfam_UAA,pfam_DMT,pfam_DUF250 - no_errors SLC35B1 HGNC SLC36A2 153201 genome.wustl.edu 37 5 150714911 150714911 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 150714911 150714911 G A SNP SLC36A2 ENST00000335244 human ensembl 70_37 -1 known silent c.723 p.I241 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A2 HGNC SLC38A11 151258 genome.wustl.edu 37 2 165755097 165755097 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 165755097 165755097 G A SNP SLC38A11 ENST00000409149 human ensembl 70_37 -1 known silent c.1071 p.F357 0.990 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A11 HGNC SLC39A8 64116 genome.wustl.edu 37 4 103226232 103226232 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 103226232 103226232 C G SNP SLC39A8 ENST00000356736 human ensembl 70_37 -1 known missense c.589 p.E197Q 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A8 HGNC SLC41A2 84102 genome.wustl.edu 37 12 105321797 105321797 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 105321797 105321797 G A SNP SLC41A2 ENST00000258538 human ensembl 70_37 -1 known missense c.509 p.A170V 1.000 NULL pfam_MgtE_Mg_transptr_membr - no_errors SLC41A2 HGNC SLC44A2 57153 genome.wustl.edu 37 19 10754001 10754001 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 10754001 10754001 C T SNP SLC44A2 ENST00000335757 human ensembl 70_37 +1 known silent c.2061 p.F687 1.000 NULL pfam_Choline_transptr-like - no_errors SLC44A2 HGNC SLC5A12 159963 genome.wustl.edu 37 11 26732861 26732861 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 26732861 26732861 G A SNP SLC5A12 ENST00000396005 human ensembl 70_37 -1 known silent c.450 p.L150 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A12 HGNC SLC5A5 6528 genome.wustl.edu 37 19 18004651 18004651 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 18004651 18004651 G A SNP SLC5A5 ENST00000222248 human ensembl 70_37 +1 known missense c.1897 p.D633N 0.001 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A5 HGNC SLC5A6 8884 genome.wustl.edu 37 2 27424300 27424300 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 27424300 27424300 G C SNP SLC5A6 ENST00000310574 human ensembl 70_37 -1 known missense c.1566 p.F522L 1.000 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A6 HGNC SLC5A6 8884 genome.wustl.edu 37 2 27430367 27430367 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 27430367 27430367 C T SNP SLC5A6 ENST00000310574 human ensembl 70_37 -1 known nonsense c.152 p.W51* 1.000 pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A6 HGNC SLC7A5 8140 genome.wustl.edu 37 16 87902738 87902738 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 87902738 87902738 G A SNP SLC7A5 ENST00000261622 human ensembl 70_37 -1 known silent c.291 p.I97 1.000 pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter - no_errors SLC7A5 HGNC SLC9A5 6553 genome.wustl.edu 37 16 67283103 67283103 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 67283103 67283103 C T SNP SLC9A5 ENST00000299798 human ensembl 70_37 +1 known silent c.186 p.I62 0.977 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A5 HGNC SLC9A5 6553 genome.wustl.edu 37 16 67290582 67290582 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 67290582 67290582 C T SNP SLC9A5 ENST00000299798 human ensembl 70_37 +1 known silent c.1122 p.F374 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A5 HGNC SLC9C1 285335 genome.wustl.edu 37 3 111927180 111927180 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 111927180 111927180 C G SNP SLC9C1 ENST00000305815 human ensembl 70_37 -1 known missense c.1831 p.E611Q 0.981 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC SLCO3A1 28232 genome.wustl.edu 37 15 92706005 92706005 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 92706005 92706005 C T SNP SLCO3A1 ENST00000318445 human ensembl 70_37 +1 known silent c.1773 p.L591 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO3A1 HGNC SLITRK3 22865 genome.wustl.edu 37 3 164907799 164907799 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 164907799 164907799 C T SNP SLITRK3 ENST00000241274 human ensembl 70_37 -1 known missense c.820 p.E274K 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC SLTM 79811 genome.wustl.edu 37 15 59191016 59191016 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 59191016 59191016 G C SNP SLTM ENST00000380516 human ensembl 70_37 -1 known missense c.1094 p.S365C 1.000 NULL pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom - no_errors SLTM HGNC SMAD3 4088 genome.wustl.edu 37 15 67457307 67457307 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 67457307 67457307 G A SNP SMAD3 ENST00000327367 human ensembl 70_37 +1 known nonsense c.281 p.W94* 1.000 pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1 pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD3 HGNC SMAD4 4089 genome.wustl.edu 37 18 48591955 48591955 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 48591955 48591955 C G SNP SMAD4 ENST00000342988 human ensembl 70_37 +1 known missense c.1118 p.T373R 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC SMAGP 57228 genome.wustl.edu 37 12 51639742 51639742 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 51639742 51639742 C G SNP SMAGP ENST00000380103 human ensembl 70_37 -1 known missense c.277 p.E93Q 1.000 NULL NULL - no_errors SMAGP HGNC SMARCA4 6597 genome.wustl.edu 37 19 11170754 11170754 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 11170754 11170754 G A SNP SMARCA4 ENST00000358026 human ensembl 70_37 +1 known missense c.4898 p.R1633Q 0.998 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA4 HGNC SMC6 79677 genome.wustl.edu 37 2 17906593 17906593 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 17906593 17906593 C A SNP SMC6 ENST00000381272 human ensembl 70_37 -1 known missense c.735 p.M245I 1.000 NULL NULL - no_errors SMC6 HGNC SMCR2 140768 genome.wustl.edu 37 17 17579606 17579606 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 17579606 17579606 G A SNP SMCR2 ENST00000456090 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SMCR2 HGNC SMCR7L 54471 genome.wustl.edu 37 22 39910250 39910250 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 39910250 39910250 C T SNP SMCR7L ENST00000325301 human ensembl 70_37 +1 known silent c.1314 p.L438 0.998 NULL NULL - no_errors SMCR7L HGNC SMG5 23381 genome.wustl.edu 37 1 156219817 156219817 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 156219817 156219817 C G SNP SMG5 ENST00000462362 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SMG5 HGNC SMG5 23381 genome.wustl.edu 37 1 156220033 156220033 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 156220033 156220033 C T SNP SMG5 ENST00000462362 human ensembl 70_37 -1 known rna NULL NULL 0.828 - - - no_errors SMG5 HGNC SMG6 23293 genome.wustl.edu 37 17 1989089 1989089 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 1989089 1989089 G A SNP SMG6 ENST00000263073 human ensembl 70_37 -1 known missense c.3464 p.S1155L 1.000 NULL pfam_EST1,smart_PINc_nuc-bd - no_errors SMG6 HGNC SMG6 23293 genome.wustl.edu 37 17 2201213 2201213 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 2201213 2201213 G A SNP SMG6 ENST00000263073 human ensembl 70_37 -1 known missense c.1984 p.P662S 1.000 pfam_EST1 pfam_EST1,smart_PINc_nuc-bd - no_errors SMG6 HGNC SMOX 54498 genome.wustl.edu 37 20 4168036 4168036 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 4168036 4168036 C G SNP SMOX ENST00000305958 human ensembl 70_37 +1 known silent c.1650 p.L550 1.000 NULL pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom - no_errors SMOX HGNC SMPD1 6609 genome.wustl.edu 37 11 6412747 6412747 + Nonsense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 6412747 6412747 C G SNP SMPD1 ENST00000342245 human ensembl 70_37 +1 known nonsense c.452 p.S151* 1.000 superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB pfam_Metallo_PEstase_dom,superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB - no_errors SMPD1 HGNC SNAPC1 6617 genome.wustl.edu 37 14 62248994 62248994 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 62248994 62248994 C G SNP SNAPC1 ENST00000216294 human ensembl 70_37 +1 known silent c.855 p.V285 0.196 NULL pfam_SNAPc_SNAP43 - no_errors SNAPC1 HGNC SNAPC3 6619 genome.wustl.edu 37 9 15423037 15423037 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 15423037 15423037 C A SNP SNAPC3 ENST00000380821 human ensembl 70_37 +1 known missense c.160 p.R54S 0.989 NULL pfam_snRNA-activating_su3 - no_errors SNAPC3 HGNC SNHG3 8420 genome.wustl.edu 37 1 28835342 28835342 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 28835342 28835342 G A SNP SNHG3 ENST00000413987 human ensembl 70_37 +1 known rna NULL NULL 0.856 - - - no_errors SNHG3 HGNC SNORD21 6083 genome.wustl.edu 37 1 93302932 93302932 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 93302932 93302932 G C SNP SNORD21 ENST00000383953 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORD21 HGNC SNORD22 9304 genome.wustl.edu 37 11 62620500 62620500 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 62620500 62620500 C T SNP SNORD22 ENST00000384756 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SNORD22 HGNC SNORD32A 26819 genome.wustl.edu 37 19 49993274 49993274 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 49993274 49993274 G C SNP SNORD32A ENST00000364805 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORD32A HGNC SNORD3D 780854 genome.wustl.edu 37 17 19015724 19015724 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 19015724 19015724 G C SNP SNORD3D ENST00000573866 human ensembl 70_37 -1 known rna NULL NULL 0.038 - - - no_errors RP11-160E2.6 Clone_based_vega_gene SNRNP35 11066 genome.wustl.edu 37 12 123956984 123956984 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 123956984 123956984 C G SNP SNRNP35 ENST00000527158 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors SNRNP35 HGNC SNRNP40 9410 genome.wustl.edu 37 1 31754370 31754370 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 31754370 31754370 C T SNP SNRNP40 ENST00000489853 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SNRNP40 HGNC SNRPD2 6633 genome.wustl.edu 37 19 46191815 46191815 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 46191815 46191815 G C SNP SNRPD2 ENST00000342669 human ensembl 70_37 -1 known silent c.12 p.L4 1.000 NULL pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors SNRPD2 HGNC SNX19 399979 genome.wustl.edu 37 11 130784826 130784826 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 130784826 130784826 C G SNP SNX19 ENST00000265909 human ensembl 70_37 -1 known missense c.1009 p.E337Q 0.990 NULL pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc - no_errors SNX19 HGNC SOCS3 9021 genome.wustl.edu 37 17 76354963 76354963 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 76354963 76354963 C A SNP SOCS3 ENST00000330871 human ensembl 70_37 -1 known missense c.214 p.D72Y 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS3 HGNC SOCS3 9021 genome.wustl.edu 37 17 76354970 76354970 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 76354970 76354970 C T SNP SOCS3 ENST00000330871 human ensembl 70_37 -1 known silent c.207 p.L69 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS3 HGNC SOCS3 9021 genome.wustl.edu 37 17 76355014 76355014 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 76355014 76355014 C T SNP SOCS3 ENST00000330871 human ensembl 70_37 -1 known missense c.163 p.E55K 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS3 HGNC SOGA1 140710 genome.wustl.edu 37 20 35415003 35415003 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 35415003 35415003 G A SNP SOGA1 ENST00000357779 human ensembl 70_37 -1 known missense c.4157 p.S1386F 1.000 NULL pfam_DUF3166 - no_errors SOGA1 HGNC SORBS1 10580 genome.wustl.edu 37 10 97154431 97154431 + Splice_Site SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 97154431 97154431 C T SNP SORBS1 ENST00000361941 human ensembl 70_37 -1 known splice_site c.1298-1 e13-1 1.000 - - - no_errors SORBS1 HGNC SORL1 6653 genome.wustl.edu 37 11 121358831 121358831 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 121358831 121358831 G A SNP SORL1 ENST00000260197 human ensembl 70_37 +1 known missense c.619 p.A207T 0.972 smart_VPS10 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors SORL1 HGNC SORL1 6653 genome.wustl.edu 37 11 121466404 121466404 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 121466404 121466404 C G SNP SORL1 ENST00000260197 human ensembl 70_37 +1 known missense c.4442 p.P1481R 0.635 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors SORL1 HGNC SORL1 6653 genome.wustl.edu 37 11 121483498 121483498 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 121483498 121483498 G C SNP SORL1 ENST00000260197 human ensembl 70_37 +1 known missense c.5376 p.E1792D 0.998 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors SORL1 HGNC SOX21 11166 genome.wustl.edu 37 13 95364171 95364171 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 95364171 95364171 C G SNP SOX21 ENST00000376945 human ensembl 70_37 -1 known missense c.133 p.E45Q 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_HMG_superfamily,pfam_TF_SOX,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,prints_Antifreeze_1 - no_errors SOX21 HGNC SP100 6672 genome.wustl.edu 37 2 231309055 231309055 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 231309055 231309055 G C SNP SP100 ENST00000340126 human ensembl 70_37 +1 known missense c.433 p.E145Q 0.000 pfam_Sp100 pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP100 HGNC SPARCL1 8404 genome.wustl.edu 37 4 88403667 88403667 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 88403667 88403667 C T SNP SPARCL1 ENST00000282470 human ensembl 70_37 -1 known missense c.1577 p.R526Q 1.000 pfam_SPARC/Testican_Ca-bd-dom,pirsf_SPARC-like_p1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2 - no_errors SPARCL1 HGNC SPATA1 100505741 genome.wustl.edu 37 1 85018772 85018772 + RNA DEL A A - TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 85018772 85018772 A - DEL SPATA1 ENST00000460286 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SPATA1 HGNC SPATA20 64847 genome.wustl.edu 37 17 48625789 48625789 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 48625789 48625789 C T SNP SPATA20 ENST00000006658 human ensembl 70_37 +1 known nonsense c.271 p.Q91* 1.000 pfam_DUF255,superfamily_Thioredoxin-like_fold pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC SPATA21 374955 genome.wustl.edu 37 1 16736453 16736453 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16736453 16736453 C T SNP SPATA21 ENST00000335496 human ensembl 70_37 -1 known missense c.230 p.S77N 0.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors SPATA21 HGNC SPATA4 132851 genome.wustl.edu 37 4 177114112 177114112 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 177114112 177114112 C G SNP SPATA4 ENST00000280191 human ensembl 70_37 -1 known missense c.464 p.R155P 0.333 pfam_DUF1042,superfamily_CH-domain pfam_DUF1042,pfam_CAMSAP_CH,superfamily_CH-domain - no_errors SPATA4 HGNC SPATS2L 26010 genome.wustl.edu 37 2 201284009 201284009 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 201284009 201284009 C G SNP SPATS2L ENST00000409755 human ensembl 70_37 +1 known missense c.325 p.Q109E 1.000 pfam_DUF1387 pfam_DUF1387,superfamily_UBA-like - no_errors SPATS2L HGNC SPDYC 387778 genome.wustl.edu 37 11 64940071 64940071 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 64940071 64940071 G A SNP SPDYC ENST00000377185 human ensembl 70_37 +1 known missense c.511 p.E171K 1.000 pfam_Cell_cycle_regulatory_Spy1 pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYC HGNC SPG11 80208 genome.wustl.edu 37 15 44858173 44858173 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 44858173 44858173 C T SNP SPG11 ENST00000261866 human ensembl 70_37 -1 known missense c.6878 p.R2293Q 1.000 NULL NULL - no_errors SPG11 HGNC SPIRE2 84501 genome.wustl.edu 37 16 89936089 89936089 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 89936089 89936089 C G SNP SPIRE2 ENST00000378247 human ensembl 70_37 +1 known missense c.1921 p.Q641E 1.000 superfamily_Znf_FYVE_PHD superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE2 HGNC SPN 6693 genome.wustl.edu 37 16 29675794 29675794 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 29675794 29675794 G C SNP SPN ENST00000360121 human ensembl 70_37 +1 known missense c.745 p.D249H 0.000 NULL NULL - no_errors SPN HGNC SPTAN1 6709 genome.wustl.edu 37 9 131345069 131345069 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 131345069 131345069 G C SNP SPTAN1 ENST00000358161 human ensembl 70_37 +1 known missense c.1747 p.D583H 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC SPTAN1 6709 genome.wustl.edu 37 9 131389689 131389689 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 131389689 131389689 G A SNP SPTAN1 ENST00000358161 human ensembl 70_37 +1 known missense c.6601 p.E2201K 1.000 NULL pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC SPTB 6710 genome.wustl.edu 37 14 65259917 65259917 + Silent SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 65259917 65259917 G T SNP SPTB ENST00000389722 human ensembl 70_37 -1 known silent c.2464 p.R822 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,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 SPTB HGNC SPTBN1 6711 genome.wustl.edu 37 2 54894740 54894740 + Splice_Site SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 54894740 54894740 G C SNP SPTBN1 ENST00000356805 human ensembl 70_37 +1 known splice_site c.6834-1 e34-1 1.000 - - - no_errors SPTBN1 HGNC SPTBN2 6712 genome.wustl.edu 37 11 66457557 66457557 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 66457557 66457557 G A SNP SPTBN2 ENST00000309996 human ensembl 70_37 -1 known silent c.5763 p.L1921 0.994 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 SPTBN2 HGNC SQLE 6713 genome.wustl.edu 37 8 126017781 126017781 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 126017781 126017781 C A SNP SQLE ENST00000265896 human ensembl 70_37 +1 known missense c.559 p.L187I 0.998 pfam_mOase_FAD-bd pfam_Squalene_epoxidase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_Rng_hydrolase-like - no_errors SQLE HGNC SRCAP 10847 genome.wustl.edu 37 16 30735462 30735462 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 30735462 30735462 C G SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known missense c.4717 p.L1573V 1.000 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC SREK1IP1 285672 genome.wustl.edu 37 5 64023951 64023951 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 64023951 64023951 C G SNP SREK1IP1 ENST00000513458 human ensembl 70_37 -1 known missense c.261 p.L87F 1.000 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors SREK1IP1 HGNC SREK1IP1 285672 genome.wustl.edu 37 5 64023998 64023998 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 64023998 64023998 C T SNP SREK1IP1 ENST00000513458 human ensembl 70_37 -1 known missense c.214 p.E72K 1.000 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors SREK1IP1 HGNC SRRM2 23524 genome.wustl.edu 37 16 2813286 2813286 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 2813286 2813286 G A SNP SRRM2 ENST00000301740 human ensembl 70_37 +1 known silent c.2757 p.V919 0.001 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC SRRM4 84530 genome.wustl.edu 37 12 119540159 119540159 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 119540159 119540159 C G SNP SRRM4 ENST00000267260 human ensembl 70_37 +1 known missense c.250 p.R84G 0.997 NULL NULL - no_errors SRRM4 HGNC SRSF1 6426 genome.wustl.edu 37 17 56082318 56082318 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 56082318 56082318 C G SNP SRSF1 ENST00000581497 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SRSF1 HGNC SSPO 23145 genome.wustl.edu 37 7 149516582 149516582 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 149516582 149516582 C T SNP SSPO ENST00000378016 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SSPO HGNC SSX1 6756 genome.wustl.edu 37 X 48121241 48121241 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 48121241 48121241 C T SNP SSX1 ENST00000376919 human ensembl 70_37 +1 known silent c.321 p.I107 0.000 NULL pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX1 HGNC ST14 6768 genome.wustl.edu 37 11 130078419 130078419 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 130078419 130078419 C T SNP ST14 ENST00000278742 human ensembl 70_37 +1 known silent c.2109 p.F703 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_matripase,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_CUB,pfam_SEA,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_matripase,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors ST14 HGNC ST5 6764 genome.wustl.edu 37 11 8718158 8718158 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 8718158 8718158 C T SNP ST5 ENST00000313726 human ensembl 70_37 -1 known silent c.3108 p.E1036 1.000 pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors ST5 HGNC ST6GALNAC1 55808 genome.wustl.edu 37 17 74621487 74621487 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 74621487 74621487 C T SNP ST6GALNAC1 ENST00000156626 human ensembl 70_37 -1 known nonsense c.1728 p.W576* 1.000 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC1 HGNC ST6GALNAC6 30815 genome.wustl.edu 37 9 130652973 130652973 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 130652973 130652973 G A SNP ST6GALNAC6 ENST00000291839 human ensembl 70_37 -1 known missense c.647 p.S216F 1.000 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC6 HGNC ST6GALNAC6 30815 genome.wustl.edu 37 9 130653221 130653221 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 130653221 130653221 G A SNP ST6GALNAC6 ENST00000291839 human ensembl 70_37 -1 known silent c.399 p.I133 1.000 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC6 HGNC STAB1 23166 genome.wustl.edu 37 3 52552829 52552829 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 52552829 52552829 G C SNP STAB1 ENST00000321725 human ensembl 70_37 +1 known missense c.4978 p.E1660Q 0.605 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC STARD3 10948 genome.wustl.edu 37 17 37815315 37815315 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 37815315 37815315 G A SNP STARD3 ENST00000336308 human ensembl 70_37 +1 known missense c.658 p.E220K 1.000 NULL pfam_MENTAL,pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd,prints_StAR - no_errors STARD3 HGNC STAT2 6773 genome.wustl.edu 37 12 56737278 56737278 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 56737278 56737278 C T SNP STAT2 ENST00000314128 human ensembl 70_37 -1 known silent c.2451 p.P817 0.009 pfam_STAT2_C pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT2 HGNC STIP1 10963 genome.wustl.edu 37 11 63961973 63961973 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 63961973 63961973 C G SNP STIP1 ENST00000305218 human ensembl 70_37 +1 known missense c.384 p.F128L 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors STIP1 HGNC STK40 83931 genome.wustl.edu 37 1 36809771 36809771 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 36809771 36809771 G A SNP STK40 ENST00000373130 human ensembl 70_37 -1 known silent c.849 p.I283 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK40 HGNC STMN1 3925 genome.wustl.edu 37 1 26229917 26229917 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 26229917 26229917 G C SNP STMN1 ENST00000465604 human ensembl 70_37 -1 known rna NULL NULL 0.081 - - - no_errors STMN1 HGNC STRIP1 85369 genome.wustl.edu 37 1 110585817 110585817 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 110585817 110585817 G A SNP STRIP1 ENST00000369795 human ensembl 70_37 +1 known missense c.993 p.M331I 1.000 pfam_N1221 pfam_DUF3402,pfam_N1221 - no_errors STRIP1 HGNC STRN 6801 genome.wustl.edu 37 2 37152346 37152346 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 37152346 37152346 C G SNP STRN ENST00000263918 human ensembl 70_37 -1 known missense c.240 p.Q80H 1.000 pfam_Striatin_N pfam_Striatin_N,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 STRN HGNC SUPT16H 11198 genome.wustl.edu 37 14 21831637 21831637 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 21831637 21831637 G A SNP SUPT16H ENST00000216297 human ensembl 70_37 -1 known missense c.1259 p.S420F 1.000 superfamily_Pept_M24_structural-domain pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain - no_errors SUPT16H HGNC SUPT4H1 6827 genome.wustl.edu 37 17 56429476 56429476 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 56429476 56429476 C T SNP SUPT4H1 ENST00000225504 human ensembl 70_37 -1 known silent c.21 p.P7 0.939 pirsf_Spt4 pfam_Spt4/RpoE2_Znf,pirsf_Spt4 - no_errors SUPT4H1 HGNC SUPT5H 6829 genome.wustl.edu 37 19 39962366 39962366 + Nonsense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 39962366 39962366 C G SNP SUPT5H ENST00000432763 human ensembl 70_37 +1 known nonsense c.1946 p.S649* 0.997 pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC SUPV3L1 6832 genome.wustl.edu 37 10 70968732 70968732 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 70968732 70968732 G A SNP SUPV3L1 ENST00000359655 human ensembl 70_37 +1 known missense c.2302 p.E768K 0.003 NULL pfam_SUV3_C,pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C - no_errors SUPV3L1 HGNC SVEP1 79987 genome.wustl.edu 37 9 113312230 113312230 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 113312230 113312230 C G SNP SVEP1 ENST00000401783 human ensembl 70_37 -1 known missense c.686 p.R229P 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC SVIP 258010 genome.wustl.edu 37 11 22844582 22844582 + RNA SNP A A G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 22844582 22844582 A G SNP SVIP ENST00000530199 human ensembl 70_37 -1 known rna NULL NULL 0.484 - - - no_errors SVIP HGNC SYMPK 8189 genome.wustl.edu 37 19 46347300 46347300 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 46347300 46347300 C T SNP SYMPK ENST00000245934 human ensembl 70_37 -1 known missense c.835 p.E279K 1.000 pfam_DUF3453,superfamily_ARM-type_fold pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold - no_errors SYMPK HGNC SYNE1 23345 genome.wustl.edu 37 6 152599288 152599288 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 152599288 152599288 C T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.18509 p.R6170K 0.979 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 SYNE2 23224 genome.wustl.edu 37 14 64473795 64473795 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 64473795 64473795 G A SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.4432 p.D1478N 0.997 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC SYNE2 23224 genome.wustl.edu 37 14 64473815 64473815 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 64473815 64473815 G C SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.4452 p.K1484N 0.705 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC SYNE2 23224 genome.wustl.edu 37 14 64542813 64542813 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 64542813 64542813 G A SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.11017 p.E3673K 1.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC SYNE2 23224 genome.wustl.edu 37 14 64653259 64653259 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 64653259 64653259 G C SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.17674 p.E5892Q 0.909 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC SYNM 23336 genome.wustl.edu 37 15 99673536 99673536 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 99673536 99673536 G A SNP SYNM ENST00000558420 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SYNM HGNC SYT7 9066 genome.wustl.edu 37 11 61300491 61300491 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 61300491 61300491 G A SNP SYT7 ENST00000263846 human ensembl 70_37 -1 known silent c.321 p.L107 0.998 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT7 HGNC SYTL2 54843 genome.wustl.edu 37 11 85435306 85435306 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 85435306 85435306 G A SNP SYTL2 ENST00000359152 human ensembl 70_37 -1 known nonsense c.3766 p.Q1256* 0.002 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYTL2 HGNC TACC2 10579 genome.wustl.edu 37 10 124009176 124009176 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 124009176 124009176 G C SNP TACC2 ENST00000334433 human ensembl 70_37 +1 known missense c.8778 p.Q2926H 1.000 pfam_TACC pfam_TACC - no_errors TACC2 HGNC TAF4B 6875 genome.wustl.edu 37 18 23854695 23854695 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 23854695 23854695 G C SNP TAF4B ENST00000269142 human ensembl 70_37 +1 known silent c.666 p.L222 0.993 NULL pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4B HGNC TANC2 26115 genome.wustl.edu 37 17 61315253 61315253 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 61315253 61315253 G A SNP TANC2 ENST00000424789 human ensembl 70_37 +1 known missense c.626 p.G209E 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 TANC2 HGNC TAOK2 9344 genome.wustl.edu 37 16 29997591 29997591 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 29997591 29997591 G A SNP TAOK2 ENST00000308893 human ensembl 70_37 +1 known silent c.1998 p.L666 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 TAOK2 HGNC TAP1 6890 genome.wustl.edu 37 6 32814865 32814865 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 32814865 32814865 C T SNP TAP1 ENST00000354258 human ensembl 70_37 -1 known missense c.2200 p.D734N 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Ag_transporter2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_ABC_B2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Ag_transporter2 - no_errors TAP1 HGNC TAP1 6890 genome.wustl.edu 37 6 32818836 32818836 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 32818836 32818836 C T SNP TAP1 ENST00000354258 human ensembl 70_37 -1 known missense c.1115 p.R372Q 0.985 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Ag_transporter2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_ABC_B2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Ag_transporter2 - no_errors TAP1 HGNC TAP1 6890 genome.wustl.edu 37 6 32818868 32818868 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 32818868 32818868 C T SNP TAP1 ENST00000354258 human ensembl 70_37 -1 known silent c.1083 p.E361 0.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Ag_transporter2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_ABC_B2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Ag_transporter2 - no_errors TAP1 HGNC TAS1R1 80835 genome.wustl.edu 37 1 6638937 6638937 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 6638937 6638937 C T SNP TAS1R1 ENST00000333172 human ensembl 70_37 +1 known missense c.1819 p.L607F 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R1 HGNC TAS1R2 80834 genome.wustl.edu 37 1 19180795 19180795 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 19180795 19180795 G C SNP TAS1R2 ENST00000375371 human ensembl 70_37 -1 novel missense c.1169 p.S390C 0.147 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R2 HGNC TAX1BP1 8887 genome.wustl.edu 37 7 27842752 27842752 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 27842752 27842752 G A SNP TAX1BP1 ENST00000409980 human ensembl 70_37 +1 novel missense c.1789 p.E597K 1.000 NULL pfam_CoCoA - no_errors TAX1BP1 HGNC TBC1D25 4943 genome.wustl.edu 37 X 48399807 48399807 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 48399807 48399807 C T SNP TBC1D25 ENST00000376771 human ensembl 70_37 +1 known silent c.210 p.L70 0.993 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D25 HGNC TBC1D3P5 440419 genome.wustl.edu 37 17 25748850 25748850 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 25748850 25748850 C G SNP TBC1D3P5 ENST00000586223 human ensembl 70_37 +1 known rna NULL NULL 0.016 - - - no_errors TBC1D3P5 HGNC TBK1 29110 genome.wustl.edu 37 12 64849669 64849669 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 64849669 64849669 C T SNP TBK1 ENST00000331710 human ensembl 70_37 +1 known missense c.19 p.H7Y 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 TBK1 HGNC TBK1 29110 genome.wustl.edu 37 12 64890164 64890164 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 64890164 64890164 G A SNP TBK1 ENST00000331710 human ensembl 70_37 +1 known missense c.1738 p.E580K 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 TBK1 HGNC TBX10 347853 genome.wustl.edu 37 11 67402720 67402720 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 67402720 67402720 C T SNP TBX10 ENST00000335385 human ensembl 70_37 -1 known missense c.22 p.G8S 0.037 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX10 HGNC TCHH 7062 genome.wustl.edu 37 1 152084526 152084526 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 152084526 152084526 C G SNP TCHH ENST00000368804 human ensembl 70_37 -1 known silent c.1167 p.L389 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC TCHHL1 126637 genome.wustl.edu 37 1 152059164 152059164 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 152059164 152059164 C G SNP TCHHL1 ENST00000368806 human ensembl 70_37 -1 known missense c.994 p.D332H 0.028 NULL pfam_S100_Ca-bd_sub - no_errors TCHHL1 HGNC TCOF1 6949 genome.wustl.edu 37 5 149755772 149755772 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 149755772 149755772 C T SNP TCOF1 ENST00000451292 human ensembl 70_37 +1 known missense c.2021 p.S674F 0.001 pfam_TCS_treacle pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC TCTE1 202500 genome.wustl.edu 37 6 44255450 44255450 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 44255450 44255450 G C SNP TCTE1 ENST00000371505 human ensembl 70_37 -1 known nonsense c.113 p.S38* 0.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors TCTE1 HGNC TDRD1 56165 genome.wustl.edu 37 10 115973251 115973251 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 115973251 115973251 C G SNP TDRD1 ENST00000251864 human ensembl 70_37 +1 known missense c.1978 p.H660D 0.000 NULL pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC TECTA 7007 genome.wustl.edu 37 11 120998861 120998861 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 120998861 120998861 C T SNP TECTA ENST00000264037 human ensembl 70_37 +1 known silent c.2175 p.D725 0.245 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC TEKT1 83659 genome.wustl.edu 37 17 6704101 6704101 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 6704101 6704101 C T SNP TEKT1 ENST00000338694 human ensembl 70_37 -1 known missense c.1014 p.M338I 0.065 pfam_Tektin,prints_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT1 HGNC TERC 7012 genome.wustl.edu 37 3 169482441 169482441 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 169482441 169482441 G A SNP TERC ENST00000363312 human ensembl 70_37 -1 known rna NULL NULL 0.955 - - - no_errors TERC HGNC TESK2 10420 genome.wustl.edu 37 1 45809796 45809796 + RNA SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 45809796 45809796 G T SNP TESK2 ENST00000486676 human ensembl 70_37 -1 known rna NULL NULL 0.942 - - - no_errors TESK2 HGNC TET2 54790 genome.wustl.edu 37 4 106158243 106158243 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 106158243 106158243 C G SNP TET2 ENST00000380013 human ensembl 70_37 +1 known silent c.3144 p.L1048 1.000 NULL NULL - no_errors TET2 HGNC TET2 54790 genome.wustl.edu 37 4 106164850 106164850 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 106164850 106164850 C T SNP TET2 ENST00000380013 human ensembl 70_37 +1 known silent c.3718 p.L1240 0.997 NULL NULL - no_errors TET2 HGNC TEX15 56154 genome.wustl.edu 37 8 30700917 30700917 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 30700917 30700917 C T SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.5617 p.E1873K 0.918 NULL NULL - no_errors TEX15 HGNC TEX15 56154 genome.wustl.edu 37 8 30700956 30700956 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 30700956 30700956 C G SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.5578 p.E1860Q 1.000 NULL NULL - no_errors TEX15 HGNC TEX15 56154 genome.wustl.edu 37 8 30703646 30703646 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 30703646 30703646 C T SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.2888 p.R963Q 1.000 NULL NULL - no_errors TEX15 HGNC TGFBR3 7049 genome.wustl.edu 37 1 92195496 92195496 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 92195496 92195496 C T SNP TGFBR3 ENST00000212355 human ensembl 70_37 -1 known silent c.603 p.K201 1.000 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors TGFBR3 HGNC TGOLN2 10618 genome.wustl.edu 37 2 85553825 85553825 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 85553825 85553825 C G SNP TGOLN2 ENST00000377386 human ensembl 70_37 -1 known missense c.1030 p.E344Q 0.114 NULL NULL - no_errors TGOLN2 HGNC THADA 63892 genome.wustl.edu 37 2 43711417 43711417 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 43711417 43711417 G A SNP THADA ENST00000436947 human ensembl 70_37 -1 known rna NULL NULL 0.088 - - - no_errors THADA HGNC THAP9 79725 genome.wustl.edu 37 4 83827655 83827655 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 83827655 83827655 G C SNP THAP9 ENST00000302236 human ensembl 70_37 +1 known missense c.455 p.R152T 0.028 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP9 HGNC THAP9 79725 genome.wustl.edu 37 4 83827726 83827726 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 83827726 83827726 G A SNP THAP9 ENST00000302236 human ensembl 70_37 +1 known missense c.526 p.E176K 0.972 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP9 HGNC THBD 7056 genome.wustl.edu 37 20 23029751 23029751 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 23029751 23029751 G A SNP THBD ENST00000377103 human ensembl 70_37 -1 known missense c.391 p.P131S 0.045 superfamily_C-type_lectin_fold,smart_C-type_lectin,pirsf_CD93/CD141,pfscan_C-type_lectin pfam_Tme5_EGF-like,pfam_EGF-like_Ca-bd,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_CD93/CD141,pfscan_C-type_lectin,prints_Thrombomodulin - no_errors THBD HGNC THEM4 117145 genome.wustl.edu 37 1 151861894 151861894 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 151861894 151861894 G A SNP THEM4 ENST00000477437 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors THEM4 HGNC THOC7 80145 genome.wustl.edu 37 3 63819876 63819876 + Splice_Site SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 63819876 63819876 C G SNP THOC7 ENST00000295899 human ensembl 70_37 -1 known splice_site c.548-1 e8-1 1.000 - - - no_errors THOC7 HGNC THSD7B 80731 genome.wustl.edu 37 2 137748495 137748495 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 137748495 137748495 C G SNP THSD7B ENST00000413152 human ensembl 70_37 +1 known missense c.34 p.H12D 0.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC TIAM2 26230 genome.wustl.edu 37 6 155458520 155458520 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 155458520 155458520 G C SNP TIAM2 ENST00000456144 human ensembl 70_37 +1 known missense c.1404 p.M468I 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC TIAM2 26230 genome.wustl.edu 37 6 155561820 155561820 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 155561820 155561820 G C SNP TIAM2 ENST00000456144 human ensembl 70_37 +1 known missense c.3325 p.D1109H 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC TICAM1 148022 genome.wustl.edu 37 19 4816923 4816923 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 4816923 4816923 G C SNP TICAM1 ENST00000248244 human ensembl 70_37 -1 known missense c.1467 p.F489L 1.000 pirsf_Tol-interleuk_rcpt_adapt_Ticam superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Ticam - no_errors TICAM1 HGNC TIGIT 201633 genome.wustl.edu 37 3 114014651 114014651 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 114014651 114014651 C T SNP TIGIT ENST00000383671 human ensembl 70_37 +1 known silent c.321 p.F107 0.923 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like - no_errors TIGIT HGNC TLK2 11011 genome.wustl.edu 37 17 60679417 60679417 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 60679417 60679417 G C SNP TLK2 ENST00000326270 human ensembl 70_37 +1 known missense c.1801 p.V601L 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TLK2 HGNC TMC6 11322 genome.wustl.edu 37 17 76117640 76117640 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 76117640 76117640 G C SNP TMC6 ENST00000322914 human ensembl 70_37 -1 known missense c.1380 p.I460M 0.691 NULL pfam_TMC - no_errors TMC6 HGNC TMCC1 23023 genome.wustl.edu 37 3 129389253 129389253 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 129389253 129389253 C T SNP TMCC1 ENST00000393238 human ensembl 70_37 -1 known silent c.1431 p.E477 1.000 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC1 HGNC TMED11P 100379220 genome.wustl.edu 37 4 1110057 1110057 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 1110057 1110057 G C SNP TMED11P ENST00000491822 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors TMED11P HGNC TMEM131 23505 genome.wustl.edu 37 2 98412696 98412696 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 98412696 98412696 C T SNP TMEM131 ENST00000186436 human ensembl 70_37 -1 known missense c.3185 p.R1062K 1.000 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC TMEM145 284339 genome.wustl.edu 37 19 42821049 42821049 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 42821049 42821049 G A SNP TMEM145 ENST00000301204 human ensembl 70_37 +1 known silent c.834 p.V278 1.000 pfam_Rhodopsin-like_GPCR_TM_domain pfam_Rhodopsin-like_GPCR_TM_domain - no_errors TMEM145 HGNC TMEM145 284339 genome.wustl.edu 37 19 42821970 42821970 + Nonsense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 42821970 42821970 C G SNP TMEM145 ENST00000301204 human ensembl 70_37 +1 known nonsense c.1010 p.S337* 1.000 pfam_Rhodopsin-like_GPCR_TM_domain pfam_Rhodopsin-like_GPCR_TM_domain - no_errors TMEM145 HGNC TMEM14A 28978 genome.wustl.edu 37 6 52541933 52541933 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 52541933 52541933 C T SNP TMEM14A ENST00000211314 human ensembl 70_37 +1 known silent c.33 p.L11 0.218 pfam_UPF0136_TM pfam_UPF0136_TM - no_errors TMEM14A HGNC TMEM198B 440104 genome.wustl.edu 37 12 56224610 56224610 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 56224610 56224610 C G SNP TMEM198B ENST00000478241 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors TMEM198B HGNC TMEM225 338661 genome.wustl.edu 37 11 123756083 123756083 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 123756083 123756083 G A SNP TMEM225 ENST00000375026 human ensembl 70_37 -1 known missense c.50 p.S17F 0.651 NULL NULL - no_errors TMEM225 HGNC TMEM246 84302 genome.wustl.edu 37 9 104238223 104238223 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 104238223 104238223 G A SNP TMEM246 ENST00000374847 human ensembl 70_37 -1 known silent c.1152 p.L384 0.322 NULL NULL - no_errors TMEM246 HGNC TMEM37 140738 genome.wustl.edu 37 2 120194804 120194804 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 120194804 120194804 C G SNP TMEM37 ENST00000306406 human ensembl 70_37 +1 known missense c.361 p.Q121E 0.012 NULL NULL - no_errors TMEM37 HGNC TMEM39A 55254 genome.wustl.edu 37 3 119150996 119150996 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 119150996 119150996 G A SNP TMEM39A ENST00000319172 human ensembl 70_37 -1 known silent c.1299 p.F433 1.000 pfam_Uncharacterised_TMEM39 pfam_Uncharacterised_TMEM39 - no_errors TMEM39A HGNC TMEM40 55287 genome.wustl.edu 37 3 12776201 12776201 + RNA SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 12776201 12776201 G T SNP TMEM40 ENST00000476331 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors TMEM40 HGNC TMEM43 79188 genome.wustl.edu 37 3 14172355 14172355 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 14172355 14172355 G A SNP TMEM43 ENST00000306077 human ensembl 70_37 +1 known missense c.196 p.E66K 0.996 NULL pfam_TMEM43_fam - no_errors TMEM43 HGNC NDC1 55706 genome.wustl.edu 37 1 54262395 54262395 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 54262395 54262395 C G SNP TMEM48 ENST00000371429 human ensembl 70_37 -1 known silent c.1551 p.V517 0.000 pfam_Nucleoporin_prot_Ndc1/Nup pfam_Nucleoporin_prot_Ndc1/Nup - no_errors TMEM48 HGNC NDC1 55706 genome.wustl.edu 37 1 54262801 54262801 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 54262801 54262801 C T SNP TMEM48 ENST00000371429 human ensembl 70_37 -1 known silent c.1239 p.Q413 0.698 pfam_Nucleoporin_prot_Ndc1/Nup pfam_Nucleoporin_prot_Ndc1/Nup - no_errors TMEM48 HGNC NDC1 55706 genome.wustl.edu 37 1 54269617 54269617 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 54269617 54269617 G C SNP TMEM48 ENST00000371429 human ensembl 70_37 -1 known missense c.1050 p.F350L 0.991 pfam_Nucleoporin_prot_Ndc1/Nup pfam_Nucleoporin_prot_Ndc1/Nup - no_errors TMEM48 HGNC TMEM63A 9725 genome.wustl.edu 37 1 226041492 226041492 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 226041492 226041492 C A SNP TMEM63A ENST00000366835 human ensembl 70_37 -1 known missense c.1635 p.E545D 1.000 pfam_DUF221 pfam_DUF221 - no_errors TMEM63A HGNC TMEM74B 55321 genome.wustl.edu 37 20 1161978 1161978 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 1161978 1161978 G A SNP TMEM74B ENST00000381894 human ensembl 70_37 -1 known silent c.285 p.P95 0.851 NULL NULL - no_errors TMEM74B HGNC TMEM9B 56674 genome.wustl.edu 37 11 8969995 8969995 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 8969995 8969995 C T SNP TMEM9B ENST00000534025 human ensembl 70_37 -1 known missense c.469 p.D157N 0.998 pfam_TMEM9 pfam_TMEM9 - no_errors TMEM9B HGNC TMUB2 79089 genome.wustl.edu 37 17 42266673 42266673 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 42266673 42266673 G A SNP TMUB2 ENST00000538716 human ensembl 70_37 +1 known missense c.319 p.D107N 1.000 NULL pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors TMUB2 HGNC TNFRSF10D 8793 genome.wustl.edu 37 8 23004583 23004583 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 23004583 23004583 G A SNP TNFRSF10D ENST00000312584 human ensembl 70_37 -1 known nonsense c.373 p.Q125* 0.000 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_10 - no_errors TNFRSF10D HGNC TNFRSF8 943 genome.wustl.edu 37 1 12169642 12169642 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 12169642 12169642 G A SNP TNFRSF8 ENST00000263932 human ensembl 70_37 +1 known silent c.441 p.T147 0.000 smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8 - no_errors TNFRSF8 HGNC TNFSF10 8743 genome.wustl.edu 37 3 172224398 172224398 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 172224398 172224398 G T SNP TNFSF10 ENST00000241261 human ensembl 70_37 -1 known missense c.730 p.Q244K 1.000 pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_10/11,pfscan_TNF pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_10/11,pfscan_TNF - no_errors TNFSF10 HGNC TNFSF13B 10673 genome.wustl.edu 37 13 108922315 108922315 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 108922315 108922315 G A SNP TNFSF13B ENST00000375887 human ensembl 70_37 +1 known silent c.72 p.L24 0.038 NULL pfam_TNF,superfamily_Tumour_necrosis_fac-like,pfscan_TNF - no_errors TNFSF13B HGNC TNK1 8711 genome.wustl.edu 37 17 7287072 7287072 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 7287072 7287072 G A SNP TNK1 ENST00000576812 human ensembl 70_37 +1 known silent c.471 p.P157 0.001 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TNK1 HGNC TNNT3 7140 genome.wustl.edu 37 11 1956267 1956267 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 1956267 1956267 G C SNP TNNT3 ENST00000493234 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TNNT3 HGNC TNRC18 84629 genome.wustl.edu 37 7 5430072 5430072 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 5430072 5430072 C G SNP TNRC18 ENST00000399434 human ensembl 70_37 -1 putative silent c.309 p.L103 0.000 NULL NULL - no_errors TNRC18 HGNC TNS1 7145 genome.wustl.edu 37 2 218713588 218713588 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 218713588 218713588 G C SNP TNS1 ENST00000171887 human ensembl 70_37 -1 known missense c.1277 p.S426C 0.081 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC TNS1 7145 genome.wustl.edu 37 2 218758228 218758228 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 218758228 218758228 G A SNP TNS1 ENST00000171887 human ensembl 70_37 -1 known silent c.276 p.S92 0.992 smart_Tyr_Pase_cat,pfscan_Phosphatase_tensin-typ pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC TOMM34 10953 genome.wustl.edu 37 20 43580609 43580609 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 43580609 43580609 C G SNP TOMM34 ENST00000372813 human ensembl 70_37 -1 known missense c.415 p.E139Q 0.084 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TOMM34 HGNC TOMM40L 84134 genome.wustl.edu 37 1 161198297 161198297 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 161198297 161198297 G A SNP TOMM40L ENST00000475793 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TOMM40L HGNC TOMM40L 84134 genome.wustl.edu 37 1 161198547 161198547 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 161198547 161198547 G C SNP TOMM40L ENST00000367987 human ensembl 70_37 +1 known missense c.727 p.D243H 1.000 pfam_Porin_Euk pfam_Porin_Euk - no_errors TOMM40L HGNC TOPORS 10210 genome.wustl.edu 37 9 32542367 32542367 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 32542367 32542367 G A SNP TOPORS ENST00000360538 human ensembl 70_37 -1 known missense c.2156 p.S719F 0.992 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors TOPORS HGNC TOR4A 54863 genome.wustl.edu 37 9 140173556 140173556 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 140173556 140173556 G A SNP TOR4A ENST00000357503 human ensembl 70_37 +1 known missense c.415 p.E139K 1.000 NULL pfam_Torsin,smart_AAA+_ATPase - no_errors TOR4A HGNC TP53BP1 7158 genome.wustl.edu 37 15 43762075 43762075 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 43762075 43762075 G C SNP TP53BP1 ENST00000382044 human ensembl 70_37 -1 known missense c.1370 p.S457C 1.000 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC TPO 7173 genome.wustl.edu 37 2 1497747 1497747 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 1497747 1497747 C G SNP TPO ENST00000329066 human ensembl 70_37 +1 known missense c.1942 p.R648G 0.913 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC TPP2 7174 genome.wustl.edu 37 13 103282469 103282469 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 103282469 103282469 G A SNP TPP2 ENST00000376065 human ensembl 70_37 +1 known missense c.1168 p.D390N 1.000 pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel - no_errors TPP2 HGNC TPR 7175 genome.wustl.edu 37 1 186286656 186286656 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 186286656 186286656 G C SNP TPR ENST00000367478 human ensembl 70_37 -1 known missense c.6898 p.L2300V 1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC TPST2 8459 genome.wustl.edu 37 22 26937206 26937206 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 26937206 26937206 C T SNP TPST2 ENST00000338754 human ensembl 70_37 -1 known missense c.391 p.E131K 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors TPST2 HGNC TRABD2A 129293 genome.wustl.edu 37 2 85069129 85069129 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 85069129 85069129 G A SNP TRABD2A ENST00000409520 human ensembl 70_37 -1 known silent c.672 p.V224 0.951 NULL NULL - no_errors TRABD2A HGNC TRAF3IP2 10758 genome.wustl.edu 37 6 111912597 111912597 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 111912597 111912597 G C SNP TRAF3IP2 ENST00000340026 human ensembl 70_37 -1 known silent c.720 p.L240 0.640 NULL pfam_SEFIR - no_errors TRAF3IP2 HGNC TRAPPC10 7109 genome.wustl.edu 37 21 45483604 45483604 + Nonsense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 45483604 45483604 G T SNP TRAPPC10 ENST00000291574 human ensembl 70_37 +1 known nonsense c.976 p.E326* 1.000 NULL NULL - no_errors TRAPPC10 HGNC TRAPPC11 60684 genome.wustl.edu 37 4 184606283 184606283 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 184606283 184606283 C T SNP TRAPPC11 ENST00000334690 human ensembl 70_37 +1 known silent c.1614 p.L538 0.997 NULL pfam_Foie-gras_1,pfam_DUF1683_C - no_errors TRAPPC11 HGNC TREML4 285852 genome.wustl.edu 37 6 41196699 41196699 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 41196699 41196699 C G SNP TREML4 ENST00000341495 human ensembl 70_37 +1 known missense c.311 p.S104W 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors TREML4 HGNC TRERF1 55809 genome.wustl.edu 37 6 42235924 42235924 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 42235924 42235924 G C SNP TRERF1 ENST00000541110 human ensembl 70_37 -1 known missense c.1405 p.Q469E 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC TRIM16 10626 genome.wustl.edu 37 17 15539374 15539374 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 15539374 15539374 G A SNP TRIM16 ENST00000336708 human ensembl 70_37 -1 known silent c.825 p.I275 0.990 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin - no_errors TRIM16 HGNC TRIM16 10626 genome.wustl.edu 37 17 15584410 15584410 + RNA SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 15584410 15584410 G C SNP TRIM16 ENST00000579272 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors TRIM16 HGNC TRIM31 11074 genome.wustl.edu 37 6 30080457 30080457 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 30080457 30080457 C G SNP TRIM31 ENST00000376734 human ensembl 70_37 -1 known missense c.126 p.Q42H 0.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Znf_B-box_chordata - no_errors TRIM31 HGNC TRIM31-AS1 0 genome.wustl.edu 37 6 30079611 30079611 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 30079611 30079611 C G SNP TRIM31-AS1 ENST00000440874 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TRIM31-AS1 HGNC TRIM5 85363 genome.wustl.edu 37 11 5701146 5701146 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 5701146 5701146 C G SNP TRIM5 ENST00000305836 human ensembl 70_37 -1 known missense c.262 p.E88Q 0.135 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM5 HGNC TRIM56 81844 genome.wustl.edu 37 7 100732942 100732942 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 100732942 100732942 G A SNP TRIM56 ENST00000487252 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors TRIM56 HGNC TRIM65 201292 genome.wustl.edu 37 17 73887309 73887309 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 73887309 73887309 C G SNP TRIM65 ENST00000269383 human ensembl 70_37 -1 known missense c.1105 p.E369Q 0.812 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM65 HGNC TRIM7 81786 genome.wustl.edu 37 5 180625192 180625192 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 180625192 180625192 C G SNP TRIM7 ENST00000274773 human ensembl 70_37 -1 known missense c.1015 p.E339Q 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,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,prints_Znf_B-box_chordata - no_errors TRIM7 HGNC TRIM9 114088 genome.wustl.edu 37 14 51467466 51467466 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 51467466 51467466 G C SNP TRIM9 ENST00000338969 human ensembl 70_37 -1 known missense c.1387 p.L463V 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC TRIP12 9320 genome.wustl.edu 37 2 230633395 230633395 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 230633395 230633395 C G SNP TRIP12 ENST00000283943 human ensembl 70_37 -1 known missense c.5719 p.D1907H 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC TRIP12 9320 genome.wustl.edu 37 2 230636303 230636303 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 230636303 230636303 C G SNP TRIP12 ENST00000283943 human ensembl 70_37 -1 known missense c.5515 p.D1839H 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC TRMT2A 27037 genome.wustl.edu 37 22 20104027 20104027 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 20104027 20104027 C G SNP TRMT2A ENST00000252136 human ensembl 70_37 -1 known missense c.133 p.E45Q 0.002 NULL pfam_U5_MeTrfase,pfam_PCMT,pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,pfam_tRNA_(Gua-N-7)_MeTrfase,pfam_UbiE/COQ5_MeTrFase,pfscan_RRM_dom - no_errors TRMT2A HGNC TRPM4 54795 genome.wustl.edu 37 19 49714276 49714276 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 49714276 49714276 G A SNP TRPM4 ENST00000252826 human ensembl 70_37 +1 known missense c.3466 p.D1156N 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC TRPM7 54822 genome.wustl.edu 37 15 50875324 50875324 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 50875324 50875324 C G SNP TRPM7 ENST00000313478 human ensembl 70_37 -1 known missense c.4519 p.D1507H 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM7 HGNC TRPM8 79054 genome.wustl.edu 37 2 234894477 234894477 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 234894477 234894477 C G SNP TRPM8 ENST00000324695 human ensembl 70_37 +1 known missense c.2907 p.I969M 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors TRPM8 HGNC TRPV4 59341 genome.wustl.edu 37 12 110236473 110236473 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 110236473 110236473 G A SNP TRPV4 ENST00000261740 human ensembl 70_37 -1 known silent c.1098 p.L366 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV4_channel,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel - no_errors TRPV4 HGNC TRPV5 56302 genome.wustl.edu 37 7 142606661 142606661 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 142606661 142606661 G A SNP TRPV5 ENST00000265310 human ensembl 70_37 -1 known silent c.1890 p.F630 1.000 prints_TRPV5/TRPV6_channel,tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,prints_TRPV5_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV5 HGNC TRRAP 8295 genome.wustl.edu 37 7 98491433 98491433 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 98491433 98491433 G C SNP TRRAP ENST00000359863 human ensembl 70_37 +1 known missense c.379 p.E127Q 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC TSC2 7249 genome.wustl.edu 37 16 2103360 2103360 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 2103360 2103360 C G SNP TSC2 ENST00000219476 human ensembl 70_37 +1 known silent c.243 p.L81 0.739 pfam_Tuberin_N,superfamily_ARM-type_fold pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin - no_errors TSC2 HGNC TSEN54 283989 genome.wustl.edu 37 17 73517555 73517555 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 73517555 73517555 G C SNP TSEN54 ENST00000333213 human ensembl 70_37 +1 known missense c.587 p.G196A 0.000 NULL NULL - no_errors TSEN54 HGNC TSGA13 114960 genome.wustl.edu 37 7 130357681 130357681 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 130357681 130357681 G C SNP TSGA13 ENST00000356588 human ensembl 70_37 -1 known silent c.423 p.L141 0.000 NULL NULL - no_errors TSGA13 HGNC TSKS 60385 genome.wustl.edu 37 19 50243365 50243365 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 50243365 50243365 C T SNP TSKS ENST00000246801 human ensembl 70_37 -1 known missense c.1573 p.E525K 1.000 NULL NULL - no_errors TSKS HGNC TSPAN8 7103 genome.wustl.edu 37 12 71531992 71531992 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 71531992 71531992 G C SNP TSPAN8 ENST00000247829 human ensembl 70_37 -1 known missense c.280 p.L94V 0.978 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN8 HGNC TTC17 55761 genome.wustl.edu 37 11 43411241 43411241 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 43411241 43411241 G C SNP TTC17 ENST00000039989 human ensembl 70_37 +1 known missense c.289 p.E97Q 1.000 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC17 HGNC TTC21A 199223 genome.wustl.edu 37 3 39171766 39171766 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 39171766 39171766 G A SNP TTC21A ENST00000301819 human ensembl 70_37 +1 known missense c.2260 p.E754K 0.561 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC TTC27 55622 genome.wustl.edu 37 2 32855589 32855589 + Splice_Site SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 32855589 32855589 G A SNP TTC27 ENST00000317907 human ensembl 70_37 +1 known splice_site c.89-1 e2-1 1.000 - - - no_errors TTC27 HGNC TTC3 7267 genome.wustl.edu 37 21 38525250 38525250 + Splice_Site SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 38525250 38525250 G C SNP TTC3 ENST00000354749 human ensembl 70_37 +1 known splice_site c.2414-1 e26-1 0.001 - - - no_errors TTC3 HGNC TTC33 23548 genome.wustl.edu 37 5 40730373 40730373 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 40730373 40730373 C T SNP TTC33 ENST00000337702 human ensembl 70_37 -1 known missense c.294 p.M98I 1.000 pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC33 HGNC TTC40 54777 genome.wustl.edu 37 10 134731957 134731957 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 134731957 134731957 C T SNP TTC40 ENST00000368582 human ensembl 70_37 -1 known silent c.1926 p.Q642 0.000 NULL NULL - no_errors TTC40 HGNC TTF1 7270 genome.wustl.edu 37 9 135266142 135266142 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 135266142 135266142 C A SNP TTF1 ENST00000334270 human ensembl 70_37 -1 known missense c.2064 p.K688N 0.995 superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC TTLL10-AS1 100506376 genome.wustl.edu 37 1 1111486 1111486 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 1111486 1111486 C G SNP TTLL10-AS1 ENST00000379317 human ensembl 70_37 -1 known rna NULL NULL 0.367 - - - no_errors TTLL10-AS1 HGNC TTLL11 158135 genome.wustl.edu 37 9 124632838 124632838 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 124632838 124632838 G A SNP TTLL11 ENST00000321582 human ensembl 70_37 -1 known silent c.1941 p.I647 1.000 NULL pfam_Tub_tyr_ligase - no_errors TTLL11 HGNC TTN 7273 genome.wustl.edu 37 2 179417953 179417953 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 179417953 179417953 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.81970 p.D27324N 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179592389 179592389 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 179592389 179592389 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.16184 p.S5395F 0.999 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179612777 179612777 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 179612777 179612777 C G SNP TTN ENST00000360870 human ensembl 70_37 -1 known missense c.14350 p.E4784Q 0.933 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179641473 179641473 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 179641473 179641473 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.5118 p.K1706 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TUBA1A 7846 genome.wustl.edu 37 12 49578810 49578810 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 49578810 49578810 C T SNP TUBA1A ENST00000301071 human ensembl 70_37 -1 known missense c.1339 p.E447K 1.000 NULL pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA1A HGNC TUBA1C 84790 genome.wustl.edu 37 12 49666530 49666530 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 49666530 49666530 G A SNP TUBA1C ENST00000301072 human ensembl 70_37 +1 known silent c.870 p.E290 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin - no_errors TUBA1C HGNC TUBB8 347688 genome.wustl.edu 37 10 94670 94670 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 94670 94670 G A SNP TUBB8 ENST00000272035 human ensembl 70_37 -1 putative missense c.164 p.T55M 0.488 smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin - no_errors TUBB8 HGNC TUBGCP4 27229 genome.wustl.edu 37 15 43687352 43687352 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 43687352 43687352 G A SNP TUBGCP4 ENST00000260383 human ensembl 70_37 +1 known silent c.1062 p.L354 0.983 pfam_Spc97_Spc98 pfam_Spc97_Spc98 - no_errors TUBGCP4 HGNC TULP1 7287 genome.wustl.edu 37 6 35473852 35473852 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 35473852 35473852 C T SNP TULP1 ENST00000229771 human ensembl 70_37 -1 known silent c.927 p.L309 0.924 pfam_Tubby_C,superfamily_Tubby_C-like pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C - no_errors TULP1 HGNC TXNDC17 84817 genome.wustl.edu 37 17 6545058 6545058 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 6545058 6545058 C G SNP TXNDC17 ENST00000571029 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TXNDC17 HGNC TXNRD2 10587 genome.wustl.edu 37 22 19906448 19906448 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 19906448 19906448 C T SNP TXNRD2 ENST00000535882 human ensembl 70_37 -1 known silent c.306 p.L102 0.996 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_GIDA-rel,tigrfam_Thioredoxin/glutathione_Rdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD2 HGNC UACA 55075 genome.wustl.edu 37 15 70960113 70960113 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 70960113 70960113 C T SNP UACA ENST00000322954 human ensembl 70_37 -1 known silent c.2910 p.Q970 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC UBA7 7318 genome.wustl.edu 37 3 49848801 49848801 + Nonsense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 49848801 49848801 C A SNP UBA7 ENST00000333486 human ensembl 70_37 -1 known nonsense c.1027 p.E343* 1.000 superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ub-activating_enz_e1_C,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA7 HGNC UBAP2 55833 genome.wustl.edu 37 9 33953364 33953364 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 33953364 33953364 G A SNP UBAP2 ENST00000360802 human ensembl 70_37 -1 known silent c.975 p.F325 1.000 NULL pfam_DUF3697_Uba2,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2 HGNC UBAP2L 9898 genome.wustl.edu 37 1 154241466 154241466 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 154241466 154241466 C T SNP UBAP2L ENST00000484819 human ensembl 70_37 +1 known rna NULL NULL 0.991 - - - no_errors UBAP2L HGNC UBE2L6 9246 genome.wustl.edu 37 11 57335082 57335082 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 57335082 57335082 C G SNP UBE2L6 ENST00000287156 human ensembl 70_37 -1 known missense c.3 p.M1I 0.146 superfamily_UBQ-conjugating_enzyme/RWD pfam_UBQ-conjugat_E2,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2L6 HGNC UBE3D 90025 genome.wustl.edu 37 6 83759489 83759489 + Nonstop_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 83759489 83759489 C A SNP UBE3D ENST00000430071 human ensembl 70_37 -1 known nonstop c.368 p.*123L 0.000 NULL pfam_UBQ-conj_enz_E2-bd_prot - no_errors UBE3D HGNC UBQLN1 29979 genome.wustl.edu 37 9 86294834 86294834 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 86294834 86294834 G C SNP UBQLN1 ENST00000376395 human ensembl 70_37 -1 known missense c.567 p.I189M 1.000 smart_STI1_HS-bd pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN1 HGNC UBR3 130507 genome.wustl.edu 37 2 170917915 170917915 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 170917915 170917915 C T SNP UBR3 ENST00000272793 human ensembl 70_37 +1 known nonsense c.4981 p.Q1661* 1.000 NULL pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR3 HGNC UBR4 23352 genome.wustl.edu 37 1 19490755 19490755 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 19490755 19490755 C T SNP UBR4 ENST00000375267 human ensembl 70_37 -1 known silent c.4692 p.L1564 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC UGT2B15 7366 genome.wustl.edu 37 4 69519921 69519921 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 69519921 69519921 C G SNP UGT2B15 ENST00000338206 human ensembl 70_37 -1 known missense c.1147 p.E383Q 1.000 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B15 HGNC UGT8 7368 genome.wustl.edu 37 4 115589440 115589440 + Silent SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 4 115589440 115589440 G T SNP UGT8 ENST00000310836 human ensembl 70_37 +1 known silent c.1242 p.V414 0.518 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT8 HGNC UHRF1BP1L 23074 genome.wustl.edu 37 12 100451410 100451410 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 100451410 100451410 C T SNP UHRF1BP1L ENST00000279907 human ensembl 70_37 -1 known missense c.3363 p.M1121I 0.998 NULL NULL - no_errors UHRF1BP1L HGNC ULK2 9706 genome.wustl.edu 37 17 19680994 19680994 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 19680994 19680994 C T SNP ULK2 ENST00000361658 human ensembl 70_37 -1 known silent c.2952 p.Q984 1.000 pfam_Ser/Thr_kinase_C,pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK2 HGNC ULK2 9706 genome.wustl.edu 37 17 19699456 19699456 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 19699456 19699456 C T SNP ULK2 ENST00000361658 human ensembl 70_37 -1 known missense c.1949 p.G650E 0.959 pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK2 HGNC UNC93A 54346 genome.wustl.edu 37 6 167728877 167728877 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 167728877 167728877 C G SNP UNC93A ENST00000230256 human ensembl 70_37 +1 known missense c.1311 p.I437M 0.000 superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93A HGNC UPRT 139596 genome.wustl.edu 37 X 74523424 74523424 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 74523424 74523424 G A SNP UPRT ENST00000474175 human ensembl 70_37 +1 known rna NULL NULL 0.285 - - - no_errors UPRT HGNC USP11 8237 genome.wustl.edu 37 X 47106748 47106748 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 47106748 47106748 G A SNP USP11 ENST00000218348 human ensembl 70_37 +1 known silent c.2595 p.S865 0.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP11 HGNC USP19 10869 genome.wustl.edu 37 3 49147778 49147778 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 49147778 49147778 C T SNP USP19 ENST00000398888 human ensembl 70_37 -1 known missense c.3568 p.D1190N 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_DUF1872,pfam_Peptidase_C19,pfam_Znf_MYND,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_Znf_MYND,pfscan_Peptidase_C19 - no_errors USP19 HGNC USP24 23358 genome.wustl.edu 37 1 55680734 55680734 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 55680734 55680734 G C SNP USP24 ENST00000294383 human ensembl 70_37 -1 known nonsense c.53 p.S18* 1.000 superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19 - no_errors USP24 HGNC USP31 57478 genome.wustl.edu 37 16 23116857 23116857 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 23116857 23116857 G A SNP USP31 ENST00000219689 human ensembl 70_37 -1 known missense c.994 p.H332Y 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP31 HGNC USP37 57695 genome.wustl.edu 37 2 219362460 219362460 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 219362460 219362460 C G SNP USP37 ENST00000258399 human ensembl 70_37 -1 known missense c.1278 p.Q426H 0.998 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19 - no_errors USP37 HGNC USP4 7375 genome.wustl.edu 37 3 49349008 49349008 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 49349008 49349008 G C SNP USP4 ENST00000265560 human ensembl 70_37 -1 known missense c.775 p.L259V 1.000 NULL pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP4 HGNC USP47 55031 genome.wustl.edu 37 11 11924287 11924287 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 11924287 11924287 G C SNP USP47 ENST00000399455 human ensembl 70_37 +1 known missense c.679 p.D227H 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP47 HGNC USP54 159195 genome.wustl.edu 37 10 75277418 75277418 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 75277418 75277418 G T SNP USP54 ENST00000339859 human ensembl 70_37 -1 known missense c.2766 p.F922L 0.784 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP54 HGNC UTP14C 9724 genome.wustl.edu 37 13 52604690 52604690 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 52604690 52604690 G C SNP UTP14C ENST00000521776 human ensembl 70_37 +1 known missense c.1750 p.D584H 0.985 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14C HGNC UTP20 27340 genome.wustl.edu 37 12 101711383 101711383 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 101711383 101711383 G C SNP UTP20 ENST00000261637 human ensembl 70_37 +1 known missense c.2680 p.E894Q 0.895 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC UVRAG 7405 genome.wustl.edu 37 11 75776812 75776812 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 75776812 75776812 C T SNP UVRAG ENST00000356136 human ensembl 70_37 +1 known silent c.1285 p.L429 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors UVRAG HGNC VIM 7431 genome.wustl.edu 37 10 17278316 17278316 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 17278316 17278316 C T SNP VIM ENST00000224237 human ensembl 70_37 +1 known silent c.1297 p.L433 1.000 NULL pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors VIM HGNC VIT 5212 genome.wustl.edu 37 2 36970381 36970381 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 36970381 36970381 G A SNP VIT ENST00000379242 human ensembl 70_37 +1 known missense c.257 p.C86Y 1.000 pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors VIT HGNC VN1R2 317701 genome.wustl.edu 37 19 53761997 53761997 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 53761997 53761997 C G SNP VN1R2 ENST00000341702 human ensembl 70_37 +1 known silent c.369 p.S123 0.000 pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R2 HGNC VNN2 8875 genome.wustl.edu 37 6 133072503 133072503 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 133072503 133072503 G C SNP VNN2 ENST00000326499 human ensembl 70_37 -1 known missense c.981 p.I327M 0.000 pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase pirsf_Biotinidase_euk,pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors VNN2 HGNC VPS13B 157680 genome.wustl.edu 37 8 100533164 100533164 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 100533164 100533164 G C SNP VPS13B ENST00000358544 human ensembl 70_37 +1 known missense c.4746 p.K1582N 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC VPS45 11311 genome.wustl.edu 37 1 150040827 150040827 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 150040827 150040827 G A SNP VPS45 ENST00000478999 human ensembl 70_37 +1 known rna NULL NULL 0.012 - - - no_errors VPS45 HGNC VPS53 55275 genome.wustl.edu 37 17 600665 600665 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 600665 600665 C G SNP VPS53 ENST00000437048 human ensembl 70_37 -1 known missense c.278 p.G93A 1.000 pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54 pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS53 HGNC VPS53 55275 genome.wustl.edu 37 17 600666 600666 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 600666 600666 C T SNP VPS53 ENST00000437048 human ensembl 70_37 -1 known missense c.277 p.G93R 1.000 pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54 pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS53 HGNC VPS8 23355 genome.wustl.edu 37 3 184573498 184573498 + Splice_Site SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 184573498 184573498 G C SNP VPS8 ENST00000287546 human ensembl 70_37 +1 known splice_site c.1036-1 e12-1 1.000 - - - no_errors VPS8 HGNC VRTN 55237 genome.wustl.edu 37 14 74823763 74823763 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 74823763 74823763 C G SNP VRTN ENST00000256362 human ensembl 70_37 +1 known missense c.277 p.L93V 1.000 NULL pfam_Transposase_8 - no_errors VRTN HGNC VSIG1 340547 genome.wustl.edu 37 X 107304672 107304672 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 107304672 107304672 C T SNP VSIG1 ENST00000415430 human ensembl 70_37 +1 known silent c.228 p.L76 0.997 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors VSIG1 HGNC VSTM1 284415 genome.wustl.edu 37 19 54561966 54561966 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 54561966 54561966 C T SNP VSTM1 ENST00000338372 human ensembl 70_37 -1 known missense c.55 p.D19N 0.041 NULL smart_Ig_sub,pfscan_Ig-like - no_errors VSTM1 HGNC VWA3B 200403 genome.wustl.edu 37 2 98737818 98737818 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 98737818 98737818 C G SNP VWA3B ENST00000477737 human ensembl 70_37 +1 known missense c.599 p.S200C 0.327 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3B HGNC VWA5B1 127731 genome.wustl.edu 37 1 20674846 20674846 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 20674846 20674846 G A SNP VWA5B1 ENST00000375089 human ensembl 70_37 +1 known missense c.2870 p.G957E 0.647 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA5B1 HGNC WBP1 23559 genome.wustl.edu 37 2 74685760 74685760 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 74685760 74685760 G C SNP WBP1 ENST00000233615 human ensembl 70_37 +1 known missense c.31 p.E11Q 1.000 NULL pfam_Uncharacterised_WW-bd - no_errors WBP1 HGNC WDR13 64743 genome.wustl.edu 37 X 48456174 48456174 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 48456174 48456174 G A SNP WDR13 ENST00000486125 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors WDR13 HGNC WDR18 57418 genome.wustl.edu 37 19 991247 991247 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 991247 991247 C T SNP WDR18 ENST00000251289 human ensembl 70_37 +1 known missense c.827 p.S276L 0.995 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 WDR18 HGNC WDR33 55339 genome.wustl.edu 37 2 128481925 128481925 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 128481925 128481925 C T SNP WDR33 ENST00000322313 human ensembl 70_37 -1 known missense c.1178 p.G393D 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC WDR44 54521 genome.wustl.edu 37 X 117528026 117528026 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 117528026 117528026 G C SNP WDR44 ENST00000254029 human ensembl 70_37 +1 known missense c.835 p.E279Q 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR44 HGNC WDR44 54521 genome.wustl.edu 37 X 117532408 117532408 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 117532408 117532408 G A SNP WDR44 ENST00000254029 human ensembl 70_37 +1 known missense c.1249 p.D417N 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR44 HGNC WDR5B 54554 genome.wustl.edu 37 3 122134139 122134139 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 122134139 122134139 G C SNP WDR5B ENST00000330689 human ensembl 70_37 -1 known silent c.237 p.L79 0.005 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR5B HGNC WDR62 284403 genome.wustl.edu 37 19 36594670 36594670 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 36594670 36594670 G A SNP WDR62 ENST00000401500 human ensembl 70_37 +1 known missense c.3940 p.D1314N 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR62 HGNC WDR64 128025 genome.wustl.edu 37 1 241920750 241920750 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 241920750 241920750 C T SNP WDR64 ENST00000366552 human ensembl 70_37 +1 known nonsense c.1906 p.Q636* 0.138 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR64 HGNC WDR81 124997 genome.wustl.edu 37 17 1629280 1629280 + Nonsense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 1629280 1629280 G T SNP WDR81 ENST00000409644 human ensembl 70_37 +1 known nonsense c.1027 p.E343* 0.949 pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC WDR81 124997 genome.wustl.edu 37 17 1629456 1629456 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 1629456 1629456 G A SNP WDR81 ENST00000409644 human ensembl 70_37 +1 known silent c.1203 p.K401 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC WDR81 124997 genome.wustl.edu 37 17 1629718 1629718 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 1629718 1629718 G A SNP WDR81 ENST00000409644 human ensembl 70_37 +1 known missense c.1465 p.D489N 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC WDR81 124997 genome.wustl.edu 37 17 1634540 1634540 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 1634540 1634540 C T SNP WDR81 ENST00000409644 human ensembl 70_37 +1 known missense c.4145 p.S1382F 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC WDR87 83889 genome.wustl.edu 37 19 38377815 38377815 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 38377815 38377815 C T SNP WDR87 ENST00000447313 human ensembl 70_37 -1 known missense c.6496 p.E2166K 0.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC WEE2 494551 genome.wustl.edu 37 7 141429462 141429462 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 141429462 141429462 C T SNP WEE2 ENST00000397541 human ensembl 70_37 +1 known missense c.1667 p.S556L 0.975 pirsf_Wee1-like_protein_kinase 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,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_cat_dom - no_errors WEE2 HGNC WFIKKN1 117166 genome.wustl.edu 37 16 682597 682597 + Nonsense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 682597 682597 G T SNP WFIKKN1 ENST00000319070 human ensembl 70_37 +1 known nonsense c.187 p.E63* 1.000 pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m - no_errors WFIKKN1 HGNC WFIKKN1 117166 genome.wustl.edu 37 16 683146 683146 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 683146 683146 G A SNP WFIKKN1 ENST00000319070 human ensembl 70_37 +1 known missense c.736 p.G246R 1.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m - no_errors WFIKKN1 HGNC WHAMM 123720 genome.wustl.edu 37 15 83499708 83499708 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 83499708 83499708 C G SNP WHAMM ENST00000286760 human ensembl 70_37 +1 known missense c.1999 p.Q667E 0.003 NULL superfamily_tRNA-bd_arm,pfscan_WH2_dom - no_errors WHAMM HGNC WHAMMP2 440253 genome.wustl.edu 37 15 28991241 28991241 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 15 28991241 28991241 C T SNP WHAMMP2 ENST00000508764 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors WHAMMP2 HGNC WHSC1L1 54904 genome.wustl.edu 37 8 38173490 38173490 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 38173490 38173490 C G SNP WHSC1L1 ENST00000317025 human ensembl 70_37 -1 known missense c.1926 p.M642I 1.000 NULL pfam_PWWP,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors WHSC1L1 HGNC WIPI2 26100 genome.wustl.edu 37 7 5256388 5256388 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 5256388 5256388 G A SNP WIPI2 ENST00000488359 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors WIPI2 HGNC WISP3 8838 genome.wustl.edu 37 6 112389478 112389478 + Silent SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 112389478 112389478 C A SNP WISP3 ENST00000361714 human ensembl 70_37 +1 known silent c.714 p.S238 0.997 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pirsf_IGFBP_CNN,pfscan_Thrombospondin_1_rpt pfam_IGFBP-like,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt - no_errors WISP3 HGNC WNK1 65125 genome.wustl.edu 37 12 977104 977104 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 977104 977104 C G SNP WNK1 ENST00000530271 human ensembl 70_37 +1 known missense c.2467 p.H823D 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK1 HGNC WNK1 65125 genome.wustl.edu 37 12 994616 994616 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 994616 994616 C T SNP WNK1 ENST00000530271 human ensembl 70_37 +1 known missense c.6140 p.S2047F 0.894 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK1 HGNC WNK2 65268 genome.wustl.edu 37 9 96000536 96000536 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 96000536 96000536 G C SNP WNK2 ENST00000297954 human ensembl 70_37 +1 known missense c.1255 p.E419Q 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,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK2 HGNC WNK3 65267 genome.wustl.edu 37 X 54337697 54337697 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 54337697 54337697 G A SNP WNK3 ENST00000354646 human ensembl 70_37 -1 known nonsense c.565 p.Q189* 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,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK3 HGNC WNT2 7472 genome.wustl.edu 37 7 116962987 116962987 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 116962987 116962987 G A SNP WNT2 ENST00000265441 human ensembl 70_37 -1 known silent c.57 p.L19 1.000 NULL pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2 - no_errors WNT2 HGNC WSCD1 23302 genome.wustl.edu 37 17 5991361 5991361 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 5991361 5991361 G C SNP WSCD1 ENST00000317744 human ensembl 70_37 +1 known missense c.479 p.G160A 0.995 pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd pfam_WSC_carb-bd,pfam_Sulfotransferase_dom,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD1 HGNC XDH 7498 genome.wustl.edu 37 2 31572578 31572578 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 31572578 31572578 C T SNP XDH ENST00000379416 human ensembl 70_37 -1 known silent c.2943 p.R981 0.857 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC XIRP2 129446 genome.wustl.edu 37 2 168096425 168096425 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 168096425 168096425 G A SNP XIRP2 ENST00000295237 human ensembl 70_37 +1 known missense c.919 p.E307K 0.951 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC XIST 7503 genome.wustl.edu 37 X 73046913 73046913 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 73046913 73046913 C G SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.772 - - - no_errors XIST HGNC XPNPEP1 7511 genome.wustl.edu 37 10 111651574 111651574 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 111651574 111651574 G A SNP XPNPEP1 ENST00000502935 human ensembl 70_37 -1 known silent c.321 p.I107 0.987 pfam_Creatinase pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP1 HGNC XPO6 23214 genome.wustl.edu 37 16 28143700 28143700 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 28143700 28143700 C G SNP XPO6 ENST00000304658 human ensembl 70_37 -1 known missense c.1561 p.E521Q 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO6 HGNC XPO7 23039 genome.wustl.edu 37 8 21856640 21856640 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 21856640 21856640 C G SNP XPO7 ENST00000434536 human ensembl 70_37 +1 known missense c.2494 p.Q832E 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO7 HGNC XRCC1 7515 genome.wustl.edu 37 19 44047769 44047769 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 44047769 44047769 C G SNP XRCC1 ENST00000262887 human ensembl 70_37 -1 known missense c.1783 p.E595Q 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_Xrcc1_N,pfam_BRCT_dom,superfamily_Galactose-bd-like,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors XRCC1 HGNC XRN1 54464 genome.wustl.edu 37 3 142074286 142074286 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 142074286 142074286 C T SNP XRN1 ENST00000264951 human ensembl 70_37 -1 known missense c.3725 p.G1242E 0.997 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC YARS 8565 genome.wustl.edu 37 1 33256707 33256707 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 33256707 33256707 C T SNP YARS ENST00000470377 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors YARS HGNC YARS2 51067 genome.wustl.edu 37 12 32908137 32908137 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 32908137 32908137 G C SNP YARS2 ENST00000324868 human ensembl 70_37 -1 known silent c.672 p.L224 0.995 pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase - no_errors YARS2 HGNC YIPF2 78992 genome.wustl.edu 37 19 11034248 11034248 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 11034248 11034248 C T SNP YIPF2 ENST00000253031 human ensembl 70_37 -1 known missense c.757 p.E253K 0.051 NULL pfam_Yip1 - no_errors YIPF2 HGNC YTHDF3 253943 genome.wustl.edu 37 8 64124494 64124494 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 8 64124494 64124494 C G SNP YTHDF3 ENST00000517371 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors YTHDF3 HGNC YWHAE 7531 genome.wustl.edu 37 17 1265207 1265207 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 1265207 1265207 G C SNP YWHAE ENST00000264335 human ensembl 70_37 -1 known missense c.360 p.F120L 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAE HGNC ZAP70 7535 genome.wustl.edu 37 2 98351063 98351063 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 98351063 98351063 G A SNP ZAP70 ENST00000264972 human ensembl 70_37 +1 known missense c.970 p.E324K 1.000 superfamily_Kinase-like_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ZAP70 HGNC ZBTB1 22890 genome.wustl.edu 37 14 64990313 64990313 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 64990313 64990313 G C SNP ZBTB1 ENST00000394712 human ensembl 70_37 +1 known missense c.2091 p.L697F 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB1 HGNC ZBTB17 7709 genome.wustl.edu 37 1 16268388 16268388 + RNA SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16268388 16268388 C G SNP ZBTB17 ENST00000462525 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZBTB17 HGNC ZBTB17 7709 genome.wustl.edu 37 1 16268529 16268529 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16268529 16268529 C T SNP ZBTB17 ENST00000375733 human ensembl 70_37 -1 known missense c.2368 p.E790K 0.960 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ZBTB17 7709 genome.wustl.edu 37 1 16269081 16269081 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16269081 16269081 C T SNP ZBTB17 ENST00000375733 human ensembl 70_37 -1 known missense c.1981 p.D661N 0.996 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ZBTB17 7709 genome.wustl.edu 37 1 16269105 16269105 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16269105 16269105 C T SNP ZBTB17 ENST00000375733 human ensembl 70_37 -1 known missense c.1957 p.E653K 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ZBTB17 7709 genome.wustl.edu 37 1 16269117 16269117 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16269117 16269117 C T SNP ZBTB17 ENST00000375733 human ensembl 70_37 -1 known missense c.1945 p.E649K 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ZBTB17 7709 genome.wustl.edu 37 1 16269231 16269231 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16269231 16269231 C G SNP ZBTB17 ENST00000375733 human ensembl 70_37 -1 known missense c.1831 p.E611Q 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ZBTB17 7709 genome.wustl.edu 37 1 16269299 16269299 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16269299 16269299 C T SNP ZBTB17 ENST00000488008 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZBTB17 HGNC ZBTB17 7709 genome.wustl.edu 37 1 16270203 16270203 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16270203 16270203 C T SNP ZBTB17 ENST00000375733 human ensembl 70_37 -1 known silent c.1467 p.L489 0.950 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ZBTB17 7709 genome.wustl.edu 37 1 16270867 16270867 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16270867 16270867 C G SNP ZBTB17 ENST00000375733 human ensembl 70_37 -1 known missense c.1299 p.K433N 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ZBTB17 7709 genome.wustl.edu 37 1 16271564 16271564 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16271564 16271564 C T SNP ZBTB17 ENST00000375733 human ensembl 70_37 -1 known silent c.795 p.E265 0.037 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ZBTB17 7709 genome.wustl.edu 37 1 16271600 16271600 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16271600 16271600 C T SNP ZBTB17 ENST00000375733 human ensembl 70_37 -1 known silent c.759 p.E253 0.732 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ZBTB17 7709 genome.wustl.edu 37 1 16271638 16271638 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16271638 16271638 C G SNP ZBTB17 ENST00000375733 human ensembl 70_37 -1 known missense c.721 p.E241Q 0.903 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ZBTB17 7709 genome.wustl.edu 37 1 16272374 16272374 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16272374 16272374 C T SNP ZBTB17 ENST00000479282 human ensembl 70_37 -1 known rna NULL NULL 0.009 - - - no_errors ZBTB17 HGNC ZBTB17 7709 genome.wustl.edu 37 1 16274987 16274987 + Missense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 16274987 16274987 C A SNP ZBTB17 ENST00000375733 human ensembl 70_37 -1 known missense c.4 p.D2Y 1.000 superfamily_BTB/POZ_fold pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ZBTB40 9923 genome.wustl.edu 37 1 22835630 22835630 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 22835630 22835630 G C SNP ZBTB40 ENST00000375647 human ensembl 70_37 +1 known silent c.1737 p.L579 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB40 HGNC ZC3H11A 9877 genome.wustl.edu 37 1 203765597 203765597 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 203765597 203765597 G A SNP ZC3H11A ENST00000466470 human ensembl 70_37 +1 known rna NULL NULL 0.947 - - - no_errors ZC3H11A HGNC ZC3H11A 9877 genome.wustl.edu 37 1 203821344 203821344 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 203821344 203821344 G A SNP ZC3H11A ENST00000332127 human ensembl 70_37 +1 known missense c.2250 p.M750I 0.003 NULL smart_Znf_CCCH - no_errors ZC3H11A HGNC ZC3H18 124245 genome.wustl.edu 37 16 88694028 88694028 + Splice_Site SNP A A T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 88694028 88694028 A T SNP ZC3H18 ENST00000301011 human ensembl 70_37 +1 known splice_site c.2109-2 e13-2 1.000 - - - no_errors ZC3H18 HGNC ZCCHC8 55596 genome.wustl.edu 37 12 122958743 122958743 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 122958743 122958743 G C SNP ZCCHC8 ENST00000336229 human ensembl 70_37 -1 known silent c.1425 p.L475 0.198 NULL pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC - no_errors ZCCHC8 HGNC ZCCHC8 55596 genome.wustl.edu 37 12 122958781 122958781 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 12 122958781 122958781 G C SNP ZCCHC8 ENST00000336229 human ensembl 70_37 -1 known missense c.1387 p.Q463E 0.997 NULL pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC - no_errors ZCCHC8 HGNC ZCWPW2 152098 genome.wustl.edu 37 3 28454782 28454782 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 28454782 28454782 G A SNP ZCWPW2 ENST00000383768 human ensembl 70_37 +1 known missense c.223 p.E75K 1.000 pfam_Znf_CW,pfscan_Znf_CW pfam_Znf_CW,pfam_PWWP,pfscan_PWWP,pfscan_Znf_CW - no_errors ZCWPW2 HGNC ZDBF2 57683 genome.wustl.edu 37 2 207173771 207173771 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 207173771 207173771 C G SNP ZDBF2 ENST00000374423 human ensembl 70_37 +1 known missense c.4519 p.Q1507E 1.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ZDBF2 57683 genome.wustl.edu 37 2 207173891 207173891 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 207173891 207173891 C G SNP ZDBF2 ENST00000374423 human ensembl 70_37 +1 known missense c.4639 p.Q1547E 0.033 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ZDHHC8P1 150244 genome.wustl.edu 37 22 23742637 23742637 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 22 23742637 23742637 G A SNP ZDHHC8P1 ENST00000255890 human ensembl 70_37 -1 known rna NULL NULL 0.895 - - - no_errors ZDHHC8P1 HGNC ZFHX2 85446 genome.wustl.edu 37 14 23992487 23992487 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 23992487 23992487 G A SNP ZFHX2 ENST00000419474 human ensembl 70_37 -1 known missense c.6664 p.R2222C 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX2 HGNC ZFHX3 463 genome.wustl.edu 37 16 72827610 72827610 + Nonsense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 72827610 72827610 G A SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known nonsense c.8971 p.Q2991* 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ZFP14 57677 genome.wustl.edu 37 19 36831229 36831229 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 36831229 36831229 C T SNP ZFP14 ENST00000270001 human ensembl 70_37 -1 known missense c.1499 p.R500K 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP14 HGNC ZFP28 140612 genome.wustl.edu 37 19 57065070 57065070 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 57065070 57065070 G A SNP ZFP28 ENST00000301318 human ensembl 70_37 +1 known missense c.916 p.E306K 0.113 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP28 HGNC ZFP36 7538 genome.wustl.edu 37 19 39898893 39898893 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 39898893 39898893 C T SNP ZFP36 ENST00000597629 human ensembl 70_37 +1 known missense c.553 p.P185S 0.902 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36 HGNC ZFP36L2 678 genome.wustl.edu 37 2 43452364 43452364 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 43452364 43452364 C G SNP ZFP36L2 ENST00000282388 human ensembl 70_37 -1 known missense c.579 p.K193N 1.000 pfam_Znf_CCCH,smart_Znf_CCCH pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L2 HGNC ZFR 51663 genome.wustl.edu 37 5 32387714 32387714 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 32387714 32387714 C G SNP ZFR ENST00000265069 human ensembl 70_37 -1 known missense c.2440 p.E814Q 1.000 pfam_DZF,smart_DZF pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR HGNC ZFX 7543 genome.wustl.edu 37 X 24197734 24197734 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 24197734 24197734 G A SNP ZFX ENST00000540034 human ensembl 70_37 +1 known missense c.610 p.E204K 1.000 pfam_Transcrp_activ_Zfx/Zfy-dom pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFX HGNC ZFYVE1 53349 genome.wustl.edu 37 14 73490808 73490808 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 73490808 73490808 C G SNP ZFYVE1 ENST00000553891 human ensembl 70_37 -1 known missense c.409 p.E137Q 1.000 superfamily_Growth_fac_rcpt pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Growth_fac_rcpt,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE1 HGNC ZGPAT 84619 genome.wustl.edu 37 20 62340158 62340158 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 20 62340158 62340158 G A SNP ZGPAT ENST00000328969 human ensembl 70_37 +1 known missense c.226 p.D76N 0.028 NULL pfam_G_patch_dom,smart_Znf_CCCH,smart_G_patch_dom,pfscan_G_patch_dom - no_errors ZGPAT HGNC ZIC5 85416 genome.wustl.edu 37 13 100622612 100622612 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 100622612 100622612 C T SNP ZIC5 ENST00000267294 human ensembl 70_37 -1 novel missense c.1318 p.E440K 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC5 HGNC ZMYM2 7750 genome.wustl.edu 37 13 20633604 20633604 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 13 20633604 20633604 G C SNP ZMYM2 ENST00000382869 human ensembl 70_37 +1 known missense c.2641 p.E881Q 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM2 HGNC ZMYM3 9203 genome.wustl.edu 37 X 70469443 70469443 + Nonstop_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 70469443 70469443 C G SNP ZMYM3 ENST00000373978 human ensembl 70_37 -1 known nonstop c.1049 p.*350S 1.000 NULL NULL - no_errors ZMYM3 HGNC ZMYM6 9204 genome.wustl.edu 37 1 35496238 35496238 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 35496238 35496238 C G SNP ZMYM6 ENST00000357182 human ensembl 70_37 -1 known missense c.3 p.M1I 1.000 NULL pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH - no_errors ZMYM6 HGNC ZMYND10 51364 genome.wustl.edu 37 3 50380767 50380767 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 3 50380767 50380767 C T SNP ZMYND10 ENST00000231749 human ensembl 70_37 -1 known missense c.481 p.E161K 0.001 pirsf_UCP037948_Znf-MYND pfam_Znf_MYND,pirsf_UCP037948_Znf-MYND,pfscan_Znf_MYND - no_errors ZMYND10 HGNC ZMYND15 84225 genome.wustl.edu 37 17 4649284 4649284 + Nonstop_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 4649284 4649284 G C SNP ZMYND15 ENST00000433935 human ensembl 70_37 +1 known nonstop c.2228 p.*743S 0.937 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND15 HGNC ZNF12 7559 genome.wustl.edu 37 7 6731194 6731194 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 6731194 6731194 G A SNP ZNF12 ENST00000405858 human ensembl 70_37 -1 known missense c.1379 p.S460L 0.996 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 ZNF12 HGNC ZNF131 7690 genome.wustl.edu 37 5 43174963 43174963 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 43174963 43174963 G C SNP ZNF131 ENST00000399534 human ensembl 70_37 +1 known missense c.1600 p.E534Q 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF131 HGNC ZNF18 7566 genome.wustl.edu 37 17 11881927 11881927 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 11881927 11881927 C G SNP ZNF18 ENST00000322748 human ensembl 70_37 -1 known missense c.997 p.E333Q 0.067 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF18 HGNC ZNF184 7738 genome.wustl.edu 37 6 27420303 27420303 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 27420303 27420303 C G SNP ZNF184 ENST00000211936 human ensembl 70_37 -1 known missense c.1035 p.Q345H 0.903 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF184 HGNC ZNF195 7748 genome.wustl.edu 37 11 3380802 3380802 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 3380802 3380802 G C SNP ZNF195 ENST00000399602 human ensembl 70_37 -1 known nonsense c.1436 p.S479* 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF195 HGNC ZNF221 7638 genome.wustl.edu 37 19 44471050 44471050 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 44471050 44471050 G C SNP ZNF221 ENST00000251269 human ensembl 70_37 +1 known missense c.1396 p.E466Q 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 ZNF221 HGNC ZNF236 7776 genome.wustl.edu 37 18 74637279 74637279 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 74637279 74637279 G T SNP ZNF236 ENST00000253159 human ensembl 70_37 +1 known missense c.3790 p.G1264C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ZNF267 10308 genome.wustl.edu 37 16 31927750 31927750 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 31927750 31927750 C G SNP ZNF267 ENST00000300870 human ensembl 70_37 +1 known missense c.2180 p.S727C 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF267 HGNC ZNF273 10793 genome.wustl.edu 37 7 64388535 64388535 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 64388535 64388535 C G SNP ZNF273 ENST00000476120 human ensembl 70_37 +1 known missense c.829 p.L277V 0.097 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 ZNF273 HGNC ZNF295-AS1 150142 genome.wustl.edu 37 21 43444361 43444361 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 43444361 43444361 C T SNP ZNF295-AS1 ENST00000596595 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors ZNF295-AS1 HGNC ZNF295-AS1 150142 genome.wustl.edu 37 21 43444818 43444818 + RNA SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 21 43444818 43444818 C T SNP ZNF295-AS1 ENST00000412906 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF295-AS1 HGNC ZNF300 91975 genome.wustl.edu 37 5 150277651 150277651 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 150277651 150277651 C G SNP ZNF300 ENST00000446148 human ensembl 70_37 -1 known missense c.286 p.D96H 0.992 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF300 HGNC ZNF300 91975 genome.wustl.edu 37 5 150277675 150277675 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 150277675 150277675 C T SNP ZNF300 ENST00000446148 human ensembl 70_37 -1 known missense c.262 p.D88N 0.486 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF300 HGNC ZNF317 57693 genome.wustl.edu 37 19 9271850 9271850 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 9271850 9271850 C T SNP ZNF317 ENST00000247956 human ensembl 70_37 +1 known missense c.1529 p.A510V 0.691 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF317 HGNC ZNF324B 388569 genome.wustl.edu 37 19 58966544 58966544 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 58966544 58966544 G C SNP ZNF324B ENST00000391696 human ensembl 70_37 +1 known missense c.203 p.R68P 0.009 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF324B HGNC ZNF354C 30832 genome.wustl.edu 37 5 178506224 178506224 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 5 178506224 178506224 G C SNP ZNF354C ENST00000315475 human ensembl 70_37 +1 known missense c.791 p.R264T 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF354C HGNC ZNF383 163087 genome.wustl.edu 37 19 37734225 37734225 + Nonsense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 37734225 37734225 G T SNP ZNF383 ENST00000352998 human ensembl 70_37 +1 known nonsense c.1087 p.E363* 0.998 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 ZNF383 HGNC ZNF394 84124 genome.wustl.edu 37 7 99097648 99097648 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 7 99097648 99097648 C T SNP ZNF394 ENST00000337673 human ensembl 70_37 -1 known silent c.69 p.A23 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF394 HGNC ZNF408 79797 genome.wustl.edu 37 11 46726060 46726060 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 46726060 46726060 G A SNP ZNF408 ENST00000311764 human ensembl 70_37 +1 known silent c.810 p.Q270 0.674 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF408 HGNC ZNF410 57862 genome.wustl.edu 37 14 74388869 74388869 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 14 74388869 74388869 G C SNP ZNF410 ENST00000555044 human ensembl 70_37 +1 known missense c.1230 p.L410F 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF410 HGNC ZNF418 147686 genome.wustl.edu 37 19 58438080 58438080 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 58438080 58438080 G A SNP ZNF418 ENST00000396147 human ensembl 70_37 -1 known missense c.1469 p.S490L 0.006 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF418 HGNC ZNF43 7594 genome.wustl.edu 37 19 21992472 21992472 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 21992472 21992472 C G SNP ZNF43 ENST00000354959 human ensembl 70_37 -1 known missense c.367 p.E123Q 0.003 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF43 HGNC ZNF440 126070 genome.wustl.edu 37 19 11942995 11942995 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 11942995 11942995 C T SNP ZNF440 ENST00000304060 human ensembl 70_37 +1 known missense c.1004 p.S335F 0.980 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 ZNF440 HGNC ZNF441 126068 genome.wustl.edu 37 19 11891039 11891039 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 11891039 11891039 C T SNP ZNF441 ENST00000357901 human ensembl 70_37 +1 known nonsense c.400 p.Q134* 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF441 HGNC ZNF441 126068 genome.wustl.edu 37 19 11891225 11891225 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 11891225 11891225 C T SNP ZNF441 ENST00000357901 human ensembl 70_37 +1 known missense c.586 p.R196C 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF441 HGNC ZNF443 10224 genome.wustl.edu 37 19 12542452 12542452 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 12542452 12542452 G A SNP ZNF443 ENST00000301547 human ensembl 70_37 -1 known silent c.534 p.F178 0.218 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF443 HGNC ZNF443 10224 genome.wustl.edu 37 19 12542517 12542517 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 12542517 12542517 G C SNP ZNF443 ENST00000301547 human ensembl 70_37 -1 known missense c.469 p.Q157E 0.985 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 ZNF443 HGNC ZNF451 26036 genome.wustl.edu 37 6 56966866 56966866 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 6 56966866 56966866 C G SNP ZNF451 ENST00000370708 human ensembl 70_37 +1 known missense c.1652 p.S551C 0.989 NULL pfam_LAP2alpha - no_errors ZNF451 HGNC ZNF48 197407 genome.wustl.edu 37 16 30409619 30409619 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 30409619 30409619 C T SNP ZNF48 ENST00000320159 human ensembl 70_37 +1 known missense c.1048 p.L350F 0.988 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF48 HGNC ZNF528 84436 genome.wustl.edu 37 19 52909190 52909190 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 52909190 52909190 G C SNP ZNF528 ENST00000360465 human ensembl 70_37 +1 known missense c.46 p.E16Q 0.066 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF528 HGNC ZNF528 84436 genome.wustl.edu 37 19 52909205 52909205 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 52909205 52909205 G C SNP ZNF528 ENST00000360465 human ensembl 70_37 +1 known missense c.61 p.E21Q 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF528 HGNC ZNF532 55205 genome.wustl.edu 37 18 56651248 56651248 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 18 56651248 56651248 C G SNP ZNF532 ENST00000336078 human ensembl 70_37 +1 known missense c.3456 p.F1152L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ZNF550 162972 genome.wustl.edu 37 19 58058582 58058582 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 58058582 58058582 C T SNP ZNF550 ENST00000376230 human ensembl 70_37 -1 known missense c.1030 p.D344N 0.004 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 ZNF550 HGNC ZNF566 84924 genome.wustl.edu 37 19 36964289 36964289 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 36964289 36964289 C T SNP ZNF566 ENST00000392170 human ensembl 70_37 -1 known silent c.81 p.Q27 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF566 HGNC ZNF566 84924 genome.wustl.edu 37 19 36964342 36964342 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 36964342 36964342 C T SNP ZNF566 ENST00000392170 human ensembl 70_37 -1 known missense c.28 p.D10N 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF566 HGNC ZNF566 84924 genome.wustl.edu 37 19 36964360 36964360 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 36964360 36964360 C T SNP ZNF566 ENST00000392170 human ensembl 70_37 -1 known missense c.10 p.E4K 1.000 superfamily_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF566 HGNC ZNF569 148266 genome.wustl.edu 37 19 37904387 37904387 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 37904387 37904387 G C SNP ZNF569 ENST00000316950 human ensembl 70_37 -1 known missense c.1173 p.F391L 0.554 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF569 HGNC ZNF569 148266 genome.wustl.edu 37 19 37905078 37905078 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 37905078 37905078 C G SNP ZNF569 ENST00000316950 human ensembl 70_37 -1 known missense c.482 p.R161T 0.138 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF569 HGNC ZNF578 147660 genome.wustl.edu 37 19 53014382 53014382 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 53014382 53014382 C T SNP ZNF578 ENST00000421239 human ensembl 70_37 +1 known nonsense c.748 p.Q250* 0.130 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 ZNF578 HGNC ZNF587 84914 genome.wustl.edu 37 19 58370157 58370157 + Missense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 58370157 58370157 G T SNP ZNF587 ENST00000339656 human ensembl 70_37 +1 known missense c.377 p.G126V 0.009 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 ZNF587 HGNC ZNF594 84622 genome.wustl.edu 37 17 5087312 5087312 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 5087312 5087312 C G SNP ZNF594 ENST00000399604 human ensembl 70_37 -1 known missense c.240 p.E80D 0.003 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF594 HGNC ZNF597 146434 genome.wustl.edu 37 16 3487266 3487266 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 3487266 3487266 G C SNP ZNF597 ENST00000301744 human ensembl 70_37 -1 known missense c.433 p.L145V 0.666 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF597 HGNC ZNF597 146434 genome.wustl.edu 37 16 3487371 3487371 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 3487371 3487371 G C SNP ZNF597 ENST00000301744 human ensembl 70_37 -1 known missense c.328 p.P110A 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF597 HGNC ZNF599 148103 genome.wustl.edu 37 19 35250490 35250490 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 35250490 35250490 G A SNP ZNF599 ENST00000329285 human ensembl 70_37 -1 known missense c.1216 p.H406Y 0.977 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF599 HGNC ZNF613 79898 genome.wustl.edu 37 19 52447781 52447781 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 52447781 52447781 G C SNP ZNF613 ENST00000293471 human ensembl 70_37 +1 known missense c.645 p.K215N 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 ZNF613 HGNC ZNF614 80110 genome.wustl.edu 37 19 52519812 52519812 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 52519812 52519812 C G SNP ZNF614 ENST00000270649 human ensembl 70_37 -1 known missense c.1039 p.E347Q 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF614 HGNC ZNF616 90317 genome.wustl.edu 37 19 52618221 52618221 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 52618221 52618221 G A SNP ZNF616 ENST00000600228 human ensembl 70_37 -1 known silent c.2196 p.L732 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 ZNF616 HGNC ZNF658 26149 genome.wustl.edu 37 9 40773898 40773898 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 9 40773898 40773898 C G SNP ZNF658 ENST00000377626 human ensembl 70_37 -1 known silent c.1377 p.L459 0.595 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF658 HGNC ZNF668 79759 genome.wustl.edu 37 16 31075701 31075701 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 31075701 31075701 C G SNP ZNF668 ENST00000426488 human ensembl 70_37 -1 known missense c.149 p.C50S 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF668 HGNC ZNF675 171392 genome.wustl.edu 37 19 23837002 23837002 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 23837002 23837002 C T SNP ZNF675 ENST00000359788 human ensembl 70_37 -1 known missense c.733 p.E245K 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF675 HGNC ZNF688 146542 genome.wustl.edu 37 16 30582364 30582364 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 30582364 30582364 C G SNP ZNF688 ENST00000223459 human ensembl 70_37 -1 known missense c.277 p.E93Q 1.000 pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF688 HGNC ZNF689 115509 genome.wustl.edu 37 16 30615816 30615816 + Silent SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 30615816 30615816 C T SNP ZNF689 ENST00000287461 human ensembl 70_37 -1 known silent c.1272 p.S424 0.207 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 ZNF689 HGNC ZNF692 55657 genome.wustl.edu 37 1 249150111 249150111 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 249150111 249150111 G A SNP ZNF692 ENST00000451251 human ensembl 70_37 -1 known missense c.709 p.P237S 0.119 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF692 HGNC ZNF705E 100131539 genome.wustl.edu 37 11 71527078 71527078 + RNA SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 11 71527078 71527078 G A SNP ZNF705E ENST00000525199 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors ZNF705E HGNC ZNF729 100287226 genome.wustl.edu 37 19 22487564 22487564 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 22487564 22487564 G C SNP ZNF729 ENST00000601693 human ensembl 70_37 +1 novel missense c.232 p.E78Q 0.057 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF729 HGNC ZNF729 100287226 genome.wustl.edu 37 19 22497953 22497953 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 22497953 22497953 C G SNP ZNF729 ENST00000601693 human ensembl 70_37 +1 novel silent c.1734 p.G578 0.998 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 ZNF729 HGNC ZNF750 79755 genome.wustl.edu 37 17 80790161 80790161 + Nonsense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 17 80790161 80790161 G C SNP ZNF750 ENST00000269394 human ensembl 70_37 -1 known nonsense c.170 p.S57* 0.995 NULL NULL - no_errors ZNF750 HGNC ZNF764 92595 genome.wustl.edu 37 16 30567088 30567088 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 16 30567088 30567088 C G SNP ZNF764 ENST00000252797 human ensembl 70_37 -1 known silent c.654 p.L218 0.996 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 ZNF764 HGNC ZNF804A 91752 genome.wustl.edu 37 2 185803649 185803649 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 185803649 185803649 G A SNP ZNF804A ENST00000302277 human ensembl 70_37 +1 known missense c.3526 p.V1176I 0.105 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ZNF81 347344 genome.wustl.edu 37 X 47755275 47755275 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 X 47755275 47755275 C G SNP ZNF81 ENST00000338637 human ensembl 70_37 +1 known missense c.213 p.F71L 0.998 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF81 HGNC ZNF91 7644 genome.wustl.edu 37 19 23542574 23542574 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 23542574 23542574 C G SNP ZNF91 ENST00000300619 human ensembl 70_37 -1 known missense c.3207 p.K1069N 0.174 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 ZNF91 HGNC ZNF91 7644 genome.wustl.edu 37 19 23543181 23543181 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 23543181 23543181 G A SNP ZNF91 ENST00000300619 human ensembl 70_37 -1 known missense c.2600 p.S867L 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF91 HGNC ZNF99 7652 genome.wustl.edu 37 19 22942226 22942226 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 19 22942226 22942226 C G SNP ZNF99 ENST00000397104 human ensembl 70_37 -1 known missense c.548 p.R183T 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF99 HGNC ZRANB3 84083 genome.wustl.edu 37 2 136071135 136071135 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 2 136071135 136071135 C T SNP ZRANB3 ENST00000264159 human ensembl 70_37 -1 known missense c.890 p.R297K 0.933 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ZRANB3 HGNC ZSWIM8 23053 genome.wustl.edu 37 10 75554361 75554361 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 75554361 75554361 G A SNP ZSWIM8 ENST00000398706 human ensembl 70_37 +1 known missense c.2872 p.E958K 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM8 HGNC ZWINT 11130 genome.wustl.edu 37 10 58118402 58118402 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 10 58118402 58118402 G A SNP ZWINT ENST00000373944 human ensembl 70_37 -1 known missense c.707 p.P236L 0.013 NULL NULL - no_errors ZWINT HGNC ZZZ3 26009 genome.wustl.edu 37 1 78098460 78098460 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 082c8656-7fab-4610-8aba-9505f60be116 f2944d8a-e329-4e1b-aa51-3596ef6dd807 1 78098460 78098460 C T SNP ZZZ3 ENST00000370801 human ensembl 70_37 -1 known missense c.580 p.E194K 1.000 NULL pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors ZZZ3 HGNC