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 ANKRD11 29123 genome.wustl.edu 37 16 89352026 89352026 + Silent SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 16 89352026 89352026 G A SNP ANKRD11 ENST00000301030 human ensembl 70_37 -1 known silent c.924 p.F308 0.998 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ATP13A4-AS1 101929198 genome.wustl.edu 37 3 193272443 193272446 + RNA DEL GTGT GTGT - TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 GTGT GTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 3 193272443 193272446 GTGT - DEL ATP13A4-AS1 ENST00000426459 human ensembl 70_37 +1 known rna NULL NULL 0.004:0.003:0.002:0.001 - - - no_errors ATP13A4-AS1 HGNC ATP1A3 478 genome.wustl.edu 37 19 42479784 42479784 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 19 42479784 42479784 C T SNP ATP1A3 ENST00000302102 human ensembl 70_37 -1 known missense c.2260 p.E754K 1.000 tigrfam_ATPase_P-typ_cation-ex_asu_euk,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,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A3 HGNC ATP1A4 480 genome.wustl.edu 37 1 160124943 160124943 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 1 160124943 160124943 G A SNP ATP1A4 ENST00000368081 human ensembl 70_37 +1 known missense c.316 p.G106R 0.989 pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_cation-ex_asu_euk 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,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A4 HGNC ATP6AP1 537 genome.wustl.edu 37 X 153657145 153657145 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b X 153657145 153657145 C T SNP ATP6AP1 ENST00000369762 human ensembl 70_37 +1 known missense c.107 p.A36V 0.000 NULL pfam_BIG/ATPase_V1_suS1 - no_errors ATP6AP1 HGNC BAI2 576 genome.wustl.edu 37 1 32221619 32221619 + Silent SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 1 32221619 32221619 G A SNP BAI2 ENST00000373658 human ensembl 70_37 -1 known silent c.819 p.F273 1.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC C12orf42 374470 genome.wustl.edu 37 12 103872172 103872172 + Missense_Mutation SNP T T A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 12 103872172 103872172 T A SNP C12orf42 ENST00000378113 human ensembl 70_37 -1 known missense c.33 p.E11D 0.003 NULL NULL - no_errors C12orf42 HGNC C1QTNF9B-AS1 542767 genome.wustl.edu 37 13 24471170 24471170 + RNA SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 13 24471170 24471170 G A SNP C1QTNF9B-AS1 ENST00000417034 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors C1QTNF9B-AS1 HGNC CACNA1B 774 genome.wustl.edu 37 9 140878595 140878595 + Silent SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 9 140878595 140878595 C T SNP CACNA1B ENST00000371355 human ensembl 70_37 +1 known silent c.1665 p.I555 0.304 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC CCDC105 126402 genome.wustl.edu 37 19 15132457 15132457 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 19 15132457 15132457 G A SNP CCDC105 ENST00000292574 human ensembl 70_37 +1 known missense c.1071 p.M357I 0.970 pfam_Tektin pfam_Tektin - no_errors CCDC105 HGNC CCDC22 28952 genome.wustl.edu 37 X 49105663 49105663 + Silent SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b X 49105663 49105663 C T SNP CCDC22 ENST00000376227 human ensembl 70_37 +1 known silent c.1575 p.I525 1.000 pfam_DUF812 pfam_DUF812 - no_errors CCDC22 HGNC CD47 961 genome.wustl.edu 37 3 107762289 107762289 + RNA DEL A A - TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 3 107762289 107762289 A - DEL CD47 ENST00000471694 human ensembl 70_37 -1 known rna NULL NULL 0.021 - - - no_errors CD47 HGNC CDH11 1009 genome.wustl.edu 37 16 64984907 64984907 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 16 64984907 64984907 C T SNP CDH11 ENST00000268603 human ensembl 70_37 -1 known missense c.1657 p.V553M 0.320 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC CEACAM7 1087 genome.wustl.edu 37 19 42191081 42191081 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 19 42191081 42191081 C T SNP CEACAM7 ENST00000006724 human ensembl 70_37 -1 known missense c.136 p.A46T 0.003 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like - no_errors CEACAM7 HGNC CIDEB 27141 genome.wustl.edu 37 14 24775181 24775181 + Nonsense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 14 24775181 24775181 G A SNP CIDEB ENST00000258807 human ensembl 70_37 -1 known nonsense c.499 p.Q167* 0.977 NULL pfam_CAD,smart_CAD,pfscan_CAD - no_errors CIDEB HGNC COL4A5 1287 genome.wustl.edu 37 X 107920734 107920734 + Silent SNP A A T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b X 107920734 107920734 A T SNP COL4A5 ENST00000328300 human ensembl 70_37 +1 known silent c.3813 p.L1271 0.937 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC CPNE4 131034 genome.wustl.edu 37 3 131404727 131404727 + Nonsense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 3 131404727 131404727 G A SNP CPNE4 ENST00000502818 human ensembl 70_37 -1 known nonsense c.637 p.R213* 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting - no_errors CPNE4 HGNC CREBBP 1387 genome.wustl.edu 37 16 3779771 3779771 + Silent SNP T T A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 16 3779771 3779771 T A SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known silent c.5277 p.P1759 0.987 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC CSGALNACT2 55454 genome.wustl.edu 37 10 43650859 43650859 + Missense_Mutation SNP G G C TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 10 43650859 43650859 G C SNP CSGALNACT2 ENST00000374466 human ensembl 70_37 +1 known missense c.262 p.E88Q 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CSGALNACT2 HGNC CYTIP 9595 genome.wustl.edu 37 2 158300367 158300367 + Nonsense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 2 158300367 158300367 G A SNP CYTIP ENST00000264192 human ensembl 70_37 -1 known nonsense c.166 p.R56* 0.591 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors CYTIP HGNC DACH1 1602 genome.wustl.edu 37 13 72049919 72049919 + Missense_Mutation SNP C C G TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 13 72049919 72049919 C G SNP DACH1 ENST00000359684 human ensembl 70_37 -1 known missense c.2095 p.E699Q 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH1 HGNC DCAF6 55827 genome.wustl.edu 37 1 168007719 168007719 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 1 168007719 168007719 G A SNP DCAF6 ENST00000367840 human ensembl 70_37 +1 known missense c.1720 p.D574N 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom - no_errors DCAF6 HGNC DCHS2 54798 genome.wustl.edu 37 4 155225868 155225868 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 4 155225868 155225868 G A SNP DCHS2 ENST00000357232 human ensembl 70_37 -1 known missense c.4193 p.S1398F 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,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 DCT 1638 genome.wustl.edu 37 13 95095858 95095858 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 13 95095858 95095858 C T SNP DCT ENST00000446125 human ensembl 70_37 -1 known missense c.1312 p.E438K 1.000 superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors DCT HGNC DNAH3 55567 genome.wustl.edu 37 16 20974837 20974837 + Nonsense_Mutation SNP C C A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 16 20974837 20974837 C A SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known nonsense c.10369 p.E3457* 0.799 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC DPF3 8110 genome.wustl.edu 37 14 73238501 73238501 + Nonsense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 14 73238501 73238501 G A SNP DPF3 ENST00000366353 human ensembl 70_37 -1 known nonsense c.298 p.Q100* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DPF3 HGNC DUSP26 78986 genome.wustl.edu 37 8 33449681 33449681 + Silent SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 8 33449681 33449681 C T SNP DUSP26 ENST00000256261 human ensembl 70_37 -1 known silent c.486 p.L162 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat 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_famA,prints_Atypical_DUSP - no_errors DUSP26 HGNC EHMT1 79813 genome.wustl.edu 37 9 140711934 140711934 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 9 140711934 140711934 G A SNP EHMT1 ENST00000460843 human ensembl 70_37 +1 known missense c.3418 p.V1140M 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC EMC2 9694 genome.wustl.edu 37 8 109498775 109498775 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 8 109498775 109498775 C T SNP EMC2 ENST00000220853 human ensembl 70_37 +1 known missense c.842 p.S281F 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors EMC2 HGNC EMILIN2 84034 genome.wustl.edu 37 18 2892200 2892200 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 18 2892200 2892200 C T SNP EMILIN2 ENST00000254528 human ensembl 70_37 +1 known missense c.2075 p.T692M 0.000 NULL pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN2 HGNC ENO4 387712 genome.wustl.edu 37 10 118635637 118635637 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 10 118635637 118635637 G A SNP ENO4 ENST00000341276 human ensembl 70_37 +1 known missense c.1412 p.G471E 0.939 pfam_Enolase_C pfam_Enolase_C,pfam_Enolase_N - no_errors ENO4 HGNC ENSG00000187979 0 genome.wustl.edu 37 22 18668923 18668923 + RNA SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 22 18668923 18668923 G A SNP ENSG00000187979 ENST00000440673 human ensembl 70_37 -1 known rna NULL NULL 0.888 - - - no_errors AC008079.9 Clone_based_vega_gene ENSG00000215954 0 genome.wustl.edu 37 11 112118607 112118608 + RNA INS - - AC TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 11 112118607 112118608 - AC INS ENSG00000215954 ENST00000401135 human ensembl 70_37 +1 novel rna NULL NULL 0.058:0.053 - - - no_errors AP002884.1 Clone_based_ensembl_gene ENSG00000221104 0 genome.wustl.edu 37 12 8519351 8519351 + RNA SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 12 8519351 8519351 G A SNP ENSG00000221104 ENST00000408177 human ensembl 70_37 +1 novel rna NULL NULL 0.347 - - - no_errors AC092865.1 Clone_based_ensembl_gene ENSG00000221226 0 genome.wustl.edu 37 16 77744254 77744254 + RNA SNP G G C TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 16 77744254 77744254 G C SNP ENSG00000221226 ENST00000408299 human ensembl 70_37 +1 novel rna NULL NULL 0.002 - - - no_errors AC092724.1 Clone_based_ensembl_gene EP300 2033 genome.wustl.edu 37 22 41564513 41564513 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 22 41564513 41564513 G A SNP EP300 ENST00000263253 human ensembl 70_37 +1 known missense c.3935 p.R1312Q 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 EP300 HGNC ERAS 3266 genome.wustl.edu 37 X 48688086 48688086 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b X 48688086 48688086 C T SNP ERAS ENST00000338270 human ensembl 70_37 +1 known missense c.553 p.R185W 0.007 pfam_Small_GTPase,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 ERAS HGNC ERRFI1 54206 genome.wustl.edu 37 1 8073498 8073498 + Silent SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 1 8073498 8073498 C T SNP ERRFI1 ENST00000377482 human ensembl 70_37 -1 known silent c.1161 p.K387 1.000 NULL pfam_GTPase_binding,pfam_Inhibitor_Mig-6 - no_errors ERRFI1 HGNC CCSER2 54462 genome.wustl.edu 37 10 86274128 86274128 + RNA SNP G G T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 10 86274128 86274128 G T SNP FAM190B ENST00000494144 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors FAM190B HGNC FAM208B 54906 genome.wustl.edu 37 10 5790084 5790084 + Missense_Mutation SNP T T A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 10 5790084 5790084 T A SNP FAM208B ENST00000328090 human ensembl 70_37 +1 known missense c.4700 p.L1567H 0.000 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC FTSJ2 29960 genome.wustl.edu 37 7 2279272 2279272 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 7 2279272 2279272 G A SNP FTSJ2 ENST00000242257 human ensembl 70_37 -1 known missense c.79 p.R27W 0.125 pirsf_rRNA-MeTfrase_E pfam_rRNA_MeTrfase_FtsJ_dom,pirsf_rRNA-MeTfrase_E - no_errors FTSJ2 HGNC GEMIN4 50628 genome.wustl.edu 37 17 648202 648202 + Missense_Mutation SNP C C G TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 17 648202 648202 C G SNP GEMIN4 ENST00000319004 human ensembl 70_37 -1 known missense c.3081 p.Q1027H 1.000 NULL NULL - no_errors GEMIN4 HGNC GEMIN4 50628 genome.wustl.edu 37 17 650523 650523 + Splice_Site SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 17 650523 650523 C T SNP GEMIN4 ENST00000437269 human ensembl 70_37 -1 putative splice_site c.499-1 e3-1 0.181 - - - no_errors GEMIN4 HGNC GLIS3 169792 genome.wustl.edu 37 9 3932409 3932409 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 9 3932409 3932409 C T SNP GLIS3 ENST00000381971 human ensembl 70_37 -1 known missense c.1934 p.R645K 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS3 HGNC GRIA1 2890 genome.wustl.edu 37 5 153190775 153190775 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 5 153190775 153190775 C T SNP GRIA1 ENST00000448073 human ensembl 70_37 +1 known missense c.2741 p.T914M 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC GTF3C5 9328 genome.wustl.edu 37 9 135906463 135906463 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 9 135906463 135906463 G A SNP GTF3C5 ENST00000372108 human ensembl 70_37 +1 known missense c.65 p.R22Q 0.046 NULL pfam_TF_IIIC_su-5 - no_errors GTF3C5 HGNC IDH3A 3419 genome.wustl.edu 37 15 78449273 78449273 + Nonstop_Mutation SNP G G C TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 15 78449273 78449273 G C SNP IDH3A ENST00000559865 human ensembl 70_37 +1 known nonstop c.114 p.*38Y 0.000 NULL NULL - no_errors IDH3A HGNC IGFN1 91156 genome.wustl.edu 37 1 201177907 201177907 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 1 201177907 201177907 G A SNP IGFN1 ENST00000335211 human ensembl 70_37 +1 known missense c.3886 p.E1296K 0.009 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGFN1 HGNC IGFN1 91156 genome.wustl.edu 37 1 201178796 201178796 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 1 201178796 201178796 G A SNP IGFN1 ENST00000335211 human ensembl 70_37 +1 known missense c.4775 p.G1592E 0.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGFN1 HGNC IGHV4-59 28392 genome.wustl.edu 37 14 107083548 107083548 + Missense_Mutation SNP G G C TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 14 107083548 107083548 G C SNP IGHV4-59 ENST00000455737 human ensembl 70_37 -1 known missense c.56 p.S19C 0.084 pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGHV4-59 HGNC IL1RAPL2 26280 genome.wustl.edu 37 X 104961411 104961411 + Missense_Mutation SNP C C G TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b X 104961411 104961411 C G SNP IL1RAPL2 ENST00000344799 human ensembl 70_37 +1 known missense c.824 p.S275C 0.990 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 INHBA 3624 genome.wustl.edu 37 7 41729911 41729911 + Silent SNP G G C TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 7 41729911 41729911 G C SNP INHBA ENST00000242208 human ensembl 70_37 -1 known silent c.618 p.L206 0.078 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu - no_errors INHBA HGNC INTS4L1 285905 genome.wustl.edu 37 7 64639820 64639820 + RNA SNP C C G TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 7 64639820 64639820 C G SNP INTS4L1 ENST00000587624 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors INTS4L1 HGNC IPPK 64768 genome.wustl.edu 37 9 95378117 95378117 + Silent SNP G G C TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 9 95378117 95378117 G C SNP IPPK ENST00000287996 human ensembl 70_37 -1 known silent c.1473 p.V491 1.000 NULL pfam_Ins_P5_2-kin - no_errors IPPK HGNC IPPK 64768 genome.wustl.edu 37 9 95378126 95378126 + Silent SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 9 95378126 95378126 G A SNP IPPK ENST00000287996 human ensembl 70_37 -1 known silent c.1464 p.L488 1.000 NULL pfam_Ins_P5_2-kin - no_errors IPPK HGNC ITGA11 22801 genome.wustl.edu 37 15 68649536 68649536 + Silent SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 15 68649536 68649536 C T SNP ITGA11 ENST00000315757 human ensembl 70_37 -1 known silent c.702 p.Q234 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A 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 ITGA11 HGNC ITGB8 3696 genome.wustl.edu 37 7 20406693 20406693 + Missense_Mutation SNP G G T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 7 20406693 20406693 G T SNP ITGB8 ENST00000222573 human ensembl 70_37 +1 known missense c.272 p.S91I 1.000 pfam_Integrin_bsu_N,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_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 IWS1 55677 genome.wustl.edu 37 2 128263232 128263232 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 2 128263232 128263232 C T SNP IWS1 ENST00000295321 human ensembl 70_37 -1 known missense c.247 p.E83K 1.000 NULL pfam_TFIIS_N,superfamily_TFIIS_N - no_errors IWS1 HGNC IZUMO3 100129669 genome.wustl.edu 37 9 24544225 24544225 + Missense_Mutation SNP C C A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 9 24544225 24544225 C A SNP IZUMO3 ENST00000543880 human ensembl 70_37 -1 known missense c.464 p.R155M 0.000 NULL NULL - no_errors IZUMO3 HGNC JAK3 3718 genome.wustl.edu 37 19 17942593 17942593 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 19 17942593 17942593 G A SNP JAK3 ENST00000458235 human ensembl 70_37 -1 known missense c.2695 p.R899W 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_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK3 HGNC KIAA0895L 653319 genome.wustl.edu 37 16 67214570 67214570 + Splice_Site SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 16 67214570 67214570 C T SNP KIAA0895L ENST00000290881 human ensembl 70_37 -1 known splice_site c.1-1 e1-1 0.994 - - - no_errors KIAA0895L HGNC KIR3DL3 115653 genome.wustl.edu 37 19 55239168 55239168 + Missense_Mutation SNP G G T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 19 55239168 55239168 G T SNP KIR3DL3 ENST00000291860 human ensembl 70_37 +1 known missense c.447 p.R149S 0.000 smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2 - no_errors KIR3DL3 HGNC LAD1 3898 genome.wustl.edu 37 1 201354847 201354847 + Silent SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 1 201354847 201354847 G A SNP LAD1 ENST00000367313 human ensembl 70_37 -1 known silent c.1155 p.P385 1.000 pirsf_Ladinin_1 pirsf_Ladinin_1 - no_errors LAD1 HGNC LIN9 286826 genome.wustl.edu 37 1 226465515 226465515 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 1 226465515 226465515 C T SNP LIN9 ENST00000328205 human ensembl 70_37 -1 known missense c.691 p.E231K 1.000 pfam_DIRP pfam_DIRP - no_errors LIN9 HGNC MALAT1 378938 genome.wustl.edu 37 11 65266499 65266499 + RNA SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 11 65266499 65266499 C T SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors MALAT1 HGNC MAP7D3 79649 genome.wustl.edu 37 X 135313040 135313040 + Missense_Mutation SNP G G C TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b X 135313040 135313040 G C SNP MAP7D3 ENST00000370663 human ensembl 70_37 -1 known missense c.1445 p.S482C 0.036 NULL pfam_E-MAP-115 - no_errors MAP7D3 HGNC MCL1 4170 genome.wustl.edu 37 1 150550970 150550970 + RNA SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 1 150550970 150550970 G A SNP MCL1 ENST00000464132 human ensembl 70_37 -1 known rna NULL NULL 0.416 - - - no_errors MCL1 HGNC MEIS3P2 257468 genome.wustl.edu 37 17 20492825 20492825 + RNA SNP G G C TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 17 20492825 20492825 G C SNP MEIS3P2 ENST00000340731 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MEIS3P2 HGNC MEIS3P2 257468 genome.wustl.edu 37 17 20492960 20492960 + RNA SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 17 20492960 20492960 G A SNP MEIS3P2 ENST00000340731 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors MEIS3P2 HGNC MSH5 4439 genome.wustl.edu 37 6 31729633 31729633 + Silent SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 6 31729633 31729633 C T SNP MSH5 ENST00000375742 human ensembl 70_37 +1 known silent c.2271 p.F757 1.000 pfam_DNA_mismatch_repair_MutS_C,smart_DNA_mismatch_repair_MutS_C pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH5 HGNC MSN 4478 genome.wustl.edu 37 X 64953115 64953115 + Silent SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b X 64953115 64953115 C T SNP MSN ENST00000360270 human ensembl 70_37 +1 known silent c.768 p.V256 1.000 pirsf_ERM,pfam_FERM_PH-like_C,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 MYO3B 140469 genome.wustl.edu 37 2 171070968 171070968 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 2 171070968 171070968 C T SNP MYO3B ENST00000334231 human ensembl 70_37 +1 known missense c.428 p.S143L 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_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC MYOM1 8736 genome.wustl.edu 37 18 3151753 3151753 + Silent SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 18 3151753 3151753 G A SNP MYOM1 ENST00000356443 human ensembl 70_37 -1 known silent c.1782 p.F594 0.001 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM1 HGNC NAPSB 256236 genome.wustl.edu 37 19 50837639 50837639 + RNA SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 19 50837639 50837639 G A SNP NAPSB ENST00000527780 human ensembl 70_37 -1 known rna NULL NULL 0.955 - - - no_errors NAPSB HGNC NCOA6 23054 genome.wustl.edu 37 20 33345195 33345195 + Silent SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 20 33345195 33345195 C T SNP NCOA6 ENST00000359003 human ensembl 70_37 -1 known silent c.1356 p.Q452 1.000 NULL NULL - no_errors NCOA6 HGNC NEK1 4750 genome.wustl.edu 37 4 170428890 170428890 + Silent SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 4 170428890 170428890 C T SNP NEK1 ENST00000507142 human ensembl 70_37 -1 known silent c.1887 p.R629 0.969 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK1 HGNC NID2 22795 genome.wustl.edu 37 14 52520405 52520405 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 14 52520405 52520405 C T SNP NID2 ENST00000216286 human ensembl 70_37 -1 known missense c.1321 p.E441K 0.201 NULL pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID2 HGNC NPAP1 23742 genome.wustl.edu 37 15 24923236 24923236 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 15 24923236 24923236 C T SNP NPAP1 ENST00000329468 human ensembl 70_37 +1 known missense c.2222 p.S741L 0.000 NULL NULL - no_errors NPAP1 HGNC NPAS2 4862 genome.wustl.edu 37 2 101554272 101554272 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 2 101554272 101554272 G A SNP NPAS2 ENST00000542504 human ensembl 70_37 +1 known missense c.526 p.D176N 1.000 pfam_PAS_fold,smart_PAS,pfscan_PAS,tigrfam_PAS pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_HLH_dom,tigrfam_PAS - no_errors NPAS2 HGNC NPLOC4 55666 genome.wustl.edu 37 17 79564319 79564319 + Silent SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 17 79564319 79564319 G A SNP NPLOC4 ENST00000374747 human ensembl 70_37 -1 known silent c.945 p.L315 0.046 pfam_NPL4,pirsf_PolyUb_recognition_cplx_Npl4 pfam_NPL4,pfam_NPL4_Zn-bd_put,pfam_Npl4_Ub-like_dom,pirsf_PolyUb_recognition_cplx_Npl4 - no_errors NPLOC4 HGNC NXF1 10482 genome.wustl.edu 37 11 62567920 62567920 + Silent SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 11 62567920 62567920 C T SNP NXF1 ENST00000294172 human ensembl 70_37 -1 known silent c.945 p.L315 1.000 NULL pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF1 HGNC OBSCN 84033 genome.wustl.edu 37 1 228554822 228554822 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 1 228554822 228554822 C T SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.19574 p.T6525M 0.998 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_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC OR1A1 8383 genome.wustl.edu 37 17 3119561 3119561 + Missense_Mutation SNP C C A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 17 3119561 3119561 C A SNP OR1A1 ENST00000304094 human ensembl 70_37 +1 known missense c.647 p.S216Y 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1A1 HGNC OR5G5P 81191 genome.wustl.edu 37 11 56570111 56570111 + RNA SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 11 56570111 56570111 G A SNP OR5G5P ENST00000378368 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors OR5G5P HGNC OR5T3 390154 genome.wustl.edu 37 11 56019727 56019727 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 11 56019727 56019727 G A SNP OR5T3 ENST00000303059 human ensembl 70_37 +1 known missense c.52 p.E18K 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T3 HGNC OR6C1 390321 genome.wustl.edu 37 12 55714984 55714984 + Missense_Mutation SNP G G T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 12 55714984 55714984 G T SNP OR6C1 ENST00000379668 human ensembl 70_37 +1 known missense c.601 p.A201S 0.606 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C1 HGNC PAPSS2 9060 genome.wustl.edu 37 10 89503210 89503210 + Silent SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 10 89503210 89503210 C T SNP PAPSS2 ENST00000456849 human ensembl 70_37 +1 known silent c.1303 p.L435 1.000 pfam_Sulfurylase_cat_dom,tigrfam_Sulphate_adenylyltransferase pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase - no_errors PAPSS2 HGNC PCDH7 5099 genome.wustl.edu 37 4 30723058 30723058 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 4 30723058 30723058 G A SNP PCDH7 ENST00000543491 human ensembl 70_37 +1 known missense c.14 p.R5Q 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC PCDH7 5099 genome.wustl.edu 37 4 30725352 30725352 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 4 30725352 30725352 G A SNP PCDH7 ENST00000543491 human ensembl 70_37 +1 known missense c.2308 p.D770N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC PCLO 27445 genome.wustl.edu 37 7 82764745 82764745 + Silent SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 7 82764745 82764745 C T SNP PCLO ENST00000333891 human ensembl 70_37 -1 known silent c.2121 p.V707 0.917 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC PI4KB 5298 genome.wustl.edu 37 1 151278698 151278698 + Nonsense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 1 151278698 151278698 G A SNP PI4KB ENST00000271657 human ensembl 70_37 -1 known nonsense c.1360 p.R454* 1.000 superfamily_Kinase-like_dom pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KB HGNC PKM 5315 genome.wustl.edu 37 15 72492830 72492830 + Missense_Mutation SNP A A T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 15 72492830 72492830 A T SNP PKM ENST00000319622 human ensembl 70_37 -1 known missense c.1474 p.F492I 1.000 pfam_Pyrv_Knase_C,superfamily_Pyrv_Knase_C,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKM HGNC PLBD1 79887 genome.wustl.edu 37 12 14659146 14659146 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 12 14659146 14659146 C T SNP PLBD1 ENST00000240617 human ensembl 70_37 -1 known missense c.1429 p.E477K 0.224 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD1 HGNC POLG2 11232 genome.wustl.edu 37 17 62473998 62473998 + Missense_Mutation SNP T T A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 17 62473998 62473998 T A SNP POLG2 ENST00000539111 human ensembl 70_37 -1 known missense c.1400 p.H467L 1.000 pfam_Anticodon-bd,superfamily_Anticodon-bd pfam_Anticodon-bd,superfamily_Anticodon-bd - no_errors POLG2 HGNC PREX2 80243 genome.wustl.edu 37 8 69069589 69069589 + Missense_Mutation SNP G G T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 8 69069589 69069589 G T SNP PREX2 ENST00000288368 human ensembl 70_37 +1 known missense c.4264 p.D1422Y 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,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 PREX2 HGNC PRF1 5551 genome.wustl.edu 37 10 72357976 72357976 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 10 72357976 72357976 G A SNP PRF1 ENST00000318971 human ensembl 70_37 -1 known missense c.1501 p.P501S 0.019 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_MACPF,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_MACPF,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors PRF1 HGNC PRPF31 26121 genome.wustl.edu 37 19 54629910 54629910 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 19 54629910 54629910 G A SNP PRPF31 ENST00000321030 human ensembl 70_37 +1 known missense c.863 p.R288Q 1.000 pfam_SnoRNA-bd_dom pfam_SnoRNA-bd_dom,pfam_Prp31_C,pfam_NOSIC,smart_NOSIC - no_errors PRPF31 HGNC PTK7 5754 genome.wustl.edu 37 6 43100468 43100468 + Missense_Mutation SNP A A G TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 6 43100468 43100468 A G SNP PTK7 ENST00000471863 human ensembl 70_37 +1 putative missense c.1271 p.N424S 0.001 NULL pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PTK7 HGNC RAPSN 5913 genome.wustl.edu 37 11 47460263 47460264 + Frame_Shift_Ins INS - - C TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 11 47460263 47460264 - C INS RAPSN ENST00000529341 human ensembl 70_37 -1 novel frame_shift_ins c.1009_1008 p.W336fs 0.013:0.005 NULL pfam_Rapsyn_myristoylation/link_N,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Postsynaptic - no_errors RAPSN HGNC RBMXL1 494115 genome.wustl.edu 37 1 89448812 89448812 + Missense_Mutation SNP T T G TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 1 89448812 89448812 T G SNP RBMXL1 ENST00000321792 human ensembl 70_37 -1 known missense c.698 p.D233A 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL1 HGNC RCC1 1104 genome.wustl.edu 37 1 28862519 28862519 + Silent SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 1 28862519 28862519 C T SNP RCC1 ENST00000373831 human ensembl 70_37 +1 known silent c.891 p.L297 1.000 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCC1 HGNC REV1 51455 genome.wustl.edu 37 2 100058894 100058894 + Missense_Mutation SNP G G C TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 2 100058894 100058894 G C SNP REV1 ENST00000258428 human ensembl 70_37 -1 known missense c.388 p.Q130E 1.000 superfamily_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N - no_errors REV1 HGNC RIMS2 9699 genome.wustl.edu 37 8 105260960 105260960 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 8 105260960 105260960 G A SNP RIMS2 ENST00000406091 human ensembl 70_37 +1 known missense c.3508 p.D1170N 1.000 NULL pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC RPS28 6234 genome.wustl.edu 37 19 8386554 8386554 + Silent SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 19 8386554 8386554 G A SNP RPS28 ENST00000600659 human ensembl 70_37 +1 known silent c.54 p.L18 1.000 pfam_Ribosomal_S28e,superfamily_NA-bd_OB-fold-like pfam_Ribosomal_S28e,superfamily_NA-bd_OB-fold-like - no_errors RPS28 HGNC RUVBL2 10856 genome.wustl.edu 37 19 49518398 49518398 + Silent SNP G G C TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 19 49518398 49518398 G C SNP RUVBL2 ENST00000595090 human ensembl 70_37 +1 known silent c.1242 p.R414 1.000 NULL pfam_TIP49_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_DnaB-like_C,superfamily_NA-bd_OB-fold-like,smart_AAA+_ATPase,prints_DNA_repair_RadA - no_errors RUVBL2 HGNC S100A1 6271 genome.wustl.edu 37 1 153603994 153603994 + Missense_Mutation SNP G G C TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 1 153603994 153603994 G C SNP S100A1 ENST00000368696 human ensembl 70_37 +1 known missense c.148 p.E50Q 0.000 NULL pfam_S100_Ca-bd_sub - no_errors S100A1 HGNC SCN1A 6323 genome.wustl.edu 37 2 166896082 166896082 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 2 166896082 166896082 C T SNP SCN1A ENST00000303395 human ensembl 70_37 -1 known missense c.2440 p.E814K 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC SEMA5A 9037 genome.wustl.edu 37 5 9202081 9202081 + Missense_Mutation SNP G G C TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 5 9202081 9202081 G C SNP SEMA5A ENST00000382496 human ensembl 70_37 -1 known missense c.918 p.I306M 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC SERINC3 10955 genome.wustl.edu 37 20 43132618 43132618 + Missense_Mutation SNP T T C TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 20 43132618 43132618 T C SNP SERINC3 ENST00000255175 human ensembl 70_37 -1 known missense c.893 p.N298S 0.892 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC3 HGNC SFSWAP 6433 genome.wustl.edu 37 12 132239006 132239006 + Silent SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 12 132239006 132239006 G A SNP SFSWAP ENST00000261674 human ensembl 70_37 +1 known silent c.1416 p.L472 0.430 pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC SGCG 6445 genome.wustl.edu 37 13 23898522 23898522 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 13 23898522 23898522 G A SNP SGCG ENST00000218867 human ensembl 70_37 +1 known missense c.718 p.E240K 1.000 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCG HGNC SLC5A4 6527 genome.wustl.edu 37 22 32630960 32630960 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 22 32630960 32630960 G A SNP SLC5A4 ENST00000266086 human ensembl 70_37 -1 known missense c.785 p.S262F 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 SLC5A4 HGNC SLIT2 9353 genome.wustl.edu 37 4 20569140 20569140 + Splice_Site SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 4 20569140 20569140 G A SNP SLIT2 ENST00000504154 human ensembl 70_37 +1 known splice_site c.2851-1 e28-1 1.000 - - - no_errors SLIT2 HGNC SPTBN4 57731 genome.wustl.edu 37 19 40998873 40998873 + Nonsense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 19 40998873 40998873 C T SNP SPTBN4 ENST00000352632 human ensembl 70_37 +1 known nonsense c.499 p.Q167* 1.000 pirsf_Spectrin_bsu,superfamily_CH-domain 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 SPTBN4 HGNC STARD7 56910 genome.wustl.edu 37 2 96852484 96852484 + Missense_Mutation SNP C C A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 2 96852484 96852484 C A SNP STARD7 ENST00000337288 human ensembl 70_37 -1 known missense c.1097 p.R366L 0.762 NULL pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd - no_errors STARD7 HGNC TAB3 257397 genome.wustl.edu 37 X 30864732 30864732 + Missense_Mutation SNP C C G TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b X 30864732 30864732 C G SNP TAB3 ENST00000288422 human ensembl 70_37 -1 known missense c.1740 p.M580I 1.000 NULL pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB3 HGNC TAF1L 138474 genome.wustl.edu 37 9 32630431 32630431 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 9 32630431 32630431 G A SNP TAF1L ENST00000242310 human ensembl 70_37 -1 known missense c.5147 p.S1716F 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC TENM2 57451 genome.wustl.edu 37 5 167630771 167630771 + Missense_Mutation SNP G G C TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 5 167630771 167630771 G C SNP TENM2 ENST00000518659 human ensembl 70_37 +1 known missense c.3508 p.E1170Q 1.000 superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC TENM4 26011 genome.wustl.edu 37 11 78780941 78780941 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 11 78780941 78780941 C T SNP TENM4 ENST00000278550 human ensembl 70_37 -1 known missense c.49 p.D17N 1.000 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC TFB2M 64216 genome.wustl.edu 37 1 246714575 246714575 + Missense_Mutation SNP G G T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 1 246714575 246714575 G T SNP TFB2M ENST00000366514 human ensembl 70_37 -1 known missense c.735 p.D245E 0.000 pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,pirsf_Mt_di-Me-Ado_Trfase_2_prcur pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,pirsf_Mt_di-Me-Ado_Trfase_2_prcur - no_errors TFB2M HGNC TMEM209 84928 genome.wustl.edu 37 7 129815407 129815407 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 7 129815407 129815407 C T SNP TMEM209 ENST00000397622 human ensembl 70_37 -1 known missense c.1289 p.R430K 1.000 pfam_Cytochrome_B561-rel pfam_Cytochrome_B561-rel - no_errors TMEM209 HGNC TRIM55 84675 genome.wustl.edu 37 8 67062588 67062588 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 8 67062588 67062588 C T SNP TRIM55 ENST00000315962 human ensembl 70_37 +1 known missense c.872 p.A291V 1.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM55 HGNC TRPV2 51393 genome.wustl.edu 37 17 16331655 16331655 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 17 16331655 16331655 G A SNP TRPV2 ENST00000338560 human ensembl 70_37 +1 known missense c.1375 p.V459M 0.993 tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV2 HGNC TTN 7273 genome.wustl.edu 37 2 179454227 179454227 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 2 179454227 179454227 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.54521 p.R18174K 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC UGT2B17 7367 genome.wustl.edu 37 4 69426371 69426371 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 4 69426371 69426371 C T SNP UGT2B17 ENST00000317746 human ensembl 70_37 -1 known missense c.889 p.V297M 0.998 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B17 HGNC UNC13A 23025 genome.wustl.edu 37 19 17759739 17759739 + Silent SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 19 17759739 17759739 C T SNP UNC13A ENST00000428389 human ensembl 70_37 -1 known silent c.1842 p.T614 0.273 NULL pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC USP33 23032 genome.wustl.edu 37 1 78183553 78183553 + Missense_Mutation SNP A A C TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 1 78183553 78183553 A C SNP USP33 ENST00000357428 human ensembl 70_37 -1 known missense c.2010 p.S670R 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP33 HGNC ZFPL1 7542 genome.wustl.edu 37 11 64853951 64853951 + Missense_Mutation SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 11 64853951 64853951 C T SNP ZFPL1 ENST00000531761 human ensembl 70_37 +1 known missense c.167 p.P56L 0.659 NULL NULL - no_errors ZFPL1 HGNC ZNF182 7569 genome.wustl.edu 37 X 47835797 47835797 + Silent SNP C C T TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b X 47835797 47835797 C T SNP ZNF182 ENST00000305127 human ensembl 70_37 -1 known silent c.1689 p.T563 0.745 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 ZNF182 HGNC ZNF512B 57473 genome.wustl.edu 37 20 62595998 62595998 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af4a9109-60a7-4fb5-8ea3-b5251f608b3c 1ec975a5-140e-40f6-8797-4b86e5ce058b 20 62595998 62595998 G A SNP ZNF512B ENST00000217130 human ensembl 70_37 -1 known missense c.1106 p.P369L 0.747 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512B HGNC