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 ABCA12 26154 genome.wustl.edu 37 2 215855600 215855600 + Nonsense_Mutation SNP A A C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 2 215855600 215855600 A C SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known nonsense c.3450 p.Y1150* 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ABCC12 94160 genome.wustl.edu 37 16 48125046 48125046 + Silent SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 16 48125046 48125046 G C SNP ABCC12 ENST00000311303 human ensembl 70_37 -1 known silent c.3270 p.L1090 0.005 superfamily_ABC_transptrTM_dom_typ1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC12 HGNC ABCC12 94160 genome.wustl.edu 37 16 48130714 48130714 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 16 48130714 48130714 C T SNP ABCC12 ENST00000311303 human ensembl 70_37 -1 known silent c.3138 p.L1046 0.998 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 ABCC12 HGNC ACE 1636 genome.wustl.edu 37 17 61559097 61559097 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 17 61559097 61559097 C T SNP ACE ENST00000290866 human ensembl 70_37 +1 known silent c.1116 p.F372 1.000 pfam_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE HGNC ACRBP 84519 genome.wustl.edu 37 12 6752714 6752714 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 12 6752714 6752714 G A SNP ACRBP ENST00000229243 human ensembl 70_37 -1 known silent c.1068 p.F356 0.838 NULL pfam_Proacrosin-bd - no_errors ACRBP HGNC ACTL6A 86 genome.wustl.edu 37 3 179294463 179294463 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 3 179294463 179294463 C T SNP ACTL6A ENST00000429709 human ensembl 70_37 +1 known silent c.627 p.L209 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL6A HGNC ADH1B 125 genome.wustl.edu 37 4 100237128 100237128 + Nonsense_Mutation SNP G G T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 4 100237128 100237128 G T SNP ADH1B ENST00000305046 human ensembl 70_37 -1 known nonsense c.494 p.S165* 0.989 superfamily_GroES-like,smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors ADH1B HGNC AGPAT1 10554 genome.wustl.edu 37 6 32137054 32137054 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 6 32137054 32137054 C T SNP AGPAT1 ENST00000336984 human ensembl 70_37 -1 known silent c.851 p.*284 0.462 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,tigrfam_AGP_acyltrans - no_errors AGPAT1 HGNC AMMECR1L 83607 genome.wustl.edu 37 2 128628868 128628868 + Nonsense_Mutation SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 2 128628868 128628868 G C SNP AMMECR1L ENST00000272647 human ensembl 70_37 -1 known nonsense c.473 p.S158* 1.000 pfam_AMMECR1_domain,pfscan_AMMECR1_domain,tigrfam_AMMECR1 pfam_AMMECR1_domain,pfscan_AMMECR1_domain,tigrfam_AMMECR1 - no_errors AMMECR1L HGNC ANO3 63982 genome.wustl.edu 37 11 26681913 26681913 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 11 26681913 26681913 G A SNP ANO3 ENST00000256737 human ensembl 70_37 +1 known missense c.2868 p.M956I 1.000 NULL pfam_Anoctamin - no_errors ANO3 HGNC APBB1 322 genome.wustl.edu 37 11 6423916 6423916 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 11 6423916 6423916 C T SNP APBB1 ENST00000389906 human ensembl 70_37 -1 known missense c.1144 p.E382K 1.000 pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,pfam_PTB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP - no_errors APBB1 HGNC APH1A 51107 genome.wustl.edu 37 1 150240405 150240405 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 150240405 150240405 G A SNP APH1A ENST00000369109 human ensembl 70_37 -1 known missense c.236 p.S79F 1.000 pfam_Aph-1 pfam_Aph-1 - no_errors APH1A HGNC ARHGAP6 395 genome.wustl.edu 37 X 11207064 11207064 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 X 11207064 11207064 G A SNP ARHGAP6 ENST00000337414 human ensembl 70_37 -1 known silent c.861 p.V287 0.988 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ARHGAP6 395 genome.wustl.edu 37 X 11207091 11207091 + Missense_Mutation SNP C C A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 X 11207091 11207091 C A SNP ARHGAP6 ENST00000337414 human ensembl 70_37 -1 known missense c.834 p.Q278H 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ARHGEF10L 55160 genome.wustl.edu 37 1 17964493 17964493 + Missense_Mutation SNP T T C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 17964493 17964493 T C SNP ARHGEF10L ENST00000361221 human ensembl 70_37 +1 known missense c.2038 p.Y680H 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ARHGEF19 128272 genome.wustl.edu 37 1 16534513 16534513 + Missense_Mutation SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 16534513 16534513 G C SNP ARHGEF19 ENST00000270747 human ensembl 70_37 -1 known missense c.620 p.S207C 0.992 NULL 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 16534646 16534646 + Missense_Mutation SNP C C A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 16534646 16534646 C A SNP ARHGEF19 ENST00000270747 human ensembl 70_37 -1 known missense c.487 p.G163C 0.549 NULL 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 BCAR3 8412 genome.wustl.edu 37 1 94047999 94047999 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 94047999 94047999 G A SNP BCAR3 ENST00000260502 human ensembl 70_37 -1 known silent c.1545 p.F515 0.999 superfamily_Ras_GEF_dom pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors BCAR3 HGNC BPIFB4 149954 genome.wustl.edu 37 20 31673928 31673928 + Missense_Mutation SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 20 31673928 31673928 G C SNP BPIFB4 ENST00000375483 human ensembl 70_37 +1 known missense c.884 p.C295S 0.998 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 BPIFB4 HGNC BZRAP1 9256 genome.wustl.edu 37 17 56382430 56382430 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 17 56382430 56382430 C T SNP BZRAP1 ENST00000355701 human ensembl 70_37 -1 known missense c.5536 p.E1846K 0.533 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC C12orf55 144535 genome.wustl.edu 37 12 97087524 97087524 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 12 97087524 97087524 C G SNP C12orf55 ENST00000342887 human ensembl 70_37 +1 known missense c.1564 p.Q522E 1.000 NULL NULL - no_errors C12orf55 HGNC C15orf41 84529 genome.wustl.edu 37 15 37002110 37002110 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 15 37002110 37002110 G A SNP C15orf41 ENST00000437989 human ensembl 70_37 +1 known missense c.664 p.E222K 1.000 NULL NULL - no_errors C15orf41 HGNC MROH9 80133 genome.wustl.edu 37 1 170967418 170967418 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 170967418 170967418 G A SNP C1orf129 ENST00000367758 human ensembl 70_37 +1 known silent c.1599 p.V533 0.996 NULL superfamily_ARM-type_fold - no_errors C1orf129 HGNC C3orf79 152118 genome.wustl.edu 37 3 153202446 153202446 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 3 153202446 153202446 C T SNP C3orf79 ENST00000446603 human ensembl 70_37 +1 known missense c.101 p.S34L 0.960 NULL NULL - no_errors C3orf79 HGNC CACNB4 785 genome.wustl.edu 37 2 152695761 152695761 + Nonsense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 2 152695761 152695761 G A SNP CACNB4 ENST00000339254 human ensembl 70_37 -1 known nonsense c.1438 p.Q480* 1.000 NULL pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu - no_errors CACNB4 HGNC CALCOCO1 57658 genome.wustl.edu 37 12 54109651 54109651 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 12 54109651 54109651 C T SNP CALCOCO1 ENST00000550804 human ensembl 70_37 -1 known missense c.1186 p.E396K 1.000 pfam_CoCoA pfam_CoCoA - no_errors CALCOCO1 HGNC CCDC120 90060 genome.wustl.edu 37 X 48925127 48925127 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 X 48925127 48925127 G A SNP CCDC120 ENST00000422185 human ensembl 70_37 +1 known missense c.1372 p.G458S 0.000 NULL pfam_DUF3338 - no_errors CCDC120 HGNC CCDC14 64770 genome.wustl.edu 37 3 123634465 123634465 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 3 123634465 123634465 G A SNP CCDC14 ENST00000488653 human ensembl 70_37 -1 known missense c.2023 p.H675Y 0.934 NULL NULL - no_errors CCDC14 HGNC CD97 976 genome.wustl.edu 37 19 14516740 14516740 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 19 14516740 14516740 G A SNP CD97 ENST00000242786 human ensembl 70_37 +1 known missense c.1810 p.E604K 0.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_CD97 pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt - no_errors CD97 HGNC CDH11 1009 genome.wustl.edu 37 16 64984722 64984722 + Silent SNP G G T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 16 64984722 64984722 G T SNP CDH11 ENST00000268603 human ensembl 70_37 -1 known silent c.1842 p.G614 0.705 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC CDH22 64405 genome.wustl.edu 37 20 44879767 44879767 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 20 44879767 44879767 C T SNP CDH22 ENST00000372262 human ensembl 70_37 -1 known missense c.167 p.G56E 0.001 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH22 HGNC CDH23 64072 genome.wustl.edu 37 10 73500672 73500672 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 10 73500672 73500672 G A SNP CDH23 ENST00000224721 human ensembl 70_37 +1 known missense c.4591 p.E1531K 1.000 superfamily_Cadherin-like pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC CDR1 1038 genome.wustl.edu 37 X 139866366 139866366 + Missense_Mutation SNP C C A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 X 139866366 139866366 C A SNP CDR1 ENST00000370532 human ensembl 70_37 -1 known missense c.166 p.D56Y 0.002 NULL NULL - no_errors CDR1 HGNC CELF4 56853 genome.wustl.edu 37 18 34855193 34855193 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 18 34855193 34855193 G A SNP CELF4 ENST00000591282 human ensembl 70_37 -1 known silent c.462 p.L154 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF4 HGNC CHST3 9469 genome.wustl.edu 37 10 73767018 73767018 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 10 73767018 73767018 C T SNP CHST3 ENST00000373115 human ensembl 70_37 +1 known missense c.229 p.L77F 1.000 pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST3 HGNC CLMN 79789 genome.wustl.edu 37 14 95688036 95688036 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 14 95688036 95688036 C G SNP CLMN ENST00000298912 human ensembl 70_37 -1 known missense c.316 p.D106H 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors CLMN HGNC COASY 80347 genome.wustl.edu 37 17 40714701 40714701 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 17 40714701 40714701 C G SNP COASY ENST00000590958 human ensembl 70_37 +1 known missense c.148 p.R50G 0.999 NULL pfam_Depp_CoAkinase,pfam_Cytidylyltransf,tigrfam_Depp_CoAkinase - no_errors COASY HGNC COL4A1 1282 genome.wustl.edu 37 13 110839653 110839653 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 13 110839653 110839653 C T SNP COL4A1 ENST00000375820 human ensembl 70_37 -1 known silent c.1560 p.L520 0.910 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC CR1 1378 genome.wustl.edu 37 1 207785320 207785320 + Missense_Mutation SNP A A G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 207785320 207785320 A G SNP CR1 ENST00000367049 human ensembl 70_37 +1 known missense c.6509 p.H2170R 0.728 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC CRB1 23418 genome.wustl.edu 37 1 197237592 197237592 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 197237592 197237592 C T SNP CRB1 ENST00000367400 human ensembl 70_37 +1 known missense c.50 p.S17L 0.175 NULL pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC CROCCP2 84809 genome.wustl.edu 37 1 16959698 16959698 + RNA SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 16959698 16959698 G A SNP CROCCP2 ENST00000362058 human ensembl 70_37 -1 known rna NULL NULL 0.766 - - - no_errors CROCCP2 HGNC CSMD3 114788 genome.wustl.edu 37 8 113256737 113256737 + Missense_Mutation SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 8 113256737 113256737 G C SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known missense c.10288 p.H3430D 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 CSMD3 HGNC CTNNAL1 8727 genome.wustl.edu 37 9 111745505 111745505 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 9 111745505 111745505 C G SNP CTNNAL1 ENST00000325551 human ensembl 70_37 -1 known missense c.820 p.E274Q 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin - no_errors CTNNAL1 HGNC CUBN 8029 genome.wustl.edu 37 10 17110148 17110148 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 10 17110148 17110148 C G SNP CUBN ENST00000377833 human ensembl 70_37 -1 known missense c.2923 p.E975Q 0.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,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 CUBN HGNC DHCR24 1718 genome.wustl.edu 37 1 55317994 55317994 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 55317994 55317994 G A SNP DHCR24 ENST00000371269 human ensembl 70_37 -1 known missense c.1463 p.S488F 1.000 NULL pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2 - no_errors DHCR24 HGNC DNAH17 8632 genome.wustl.edu 37 17 76454789 76454789 + RNA SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 17 76454789 76454789 G A SNP DNAH17 ENST00000592152 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors DNAH17 HGNC DNAH2 146754 genome.wustl.edu 37 17 7695328 7695328 + Nonsense_Mutation SNP G G T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 17 7695328 7695328 G T SNP DNAH2 ENST00000389173 human ensembl 70_37 +1 known nonsense c.6994 p.E2332* 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC DOCK10 55619 genome.wustl.edu 37 2 225662651 225662651 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 2 225662651 225662651 C G SNP DOCK10 ENST00000258390 human ensembl 70_37 -1 known missense c.4542 p.L1514F 0.986 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC DOCK8 81704 genome.wustl.edu 37 9 368025 368025 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 9 368025 368025 C G SNP DOCK8 ENST00000453981 human ensembl 70_37 +1 known missense c.1687 p.L563V 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC DSCR9 257203 genome.wustl.edu 37 21 38593674 38593674 + RNA SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 21 38593674 38593674 G A SNP DSCR9 ENST00000454482 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors DSCR9 HGNC DSP 1832 genome.wustl.edu 37 6 7581095 7581095 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 6 7581095 7581095 C T SNP DSP ENST00000379802 human ensembl 70_37 +1 known missense c.4672 p.R1558W 0.036 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC DST 667 genome.wustl.edu 37 6 56504768 56504768 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 6 56504768 56504768 C G SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.2479 p.E827Q 1.000 superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC DYNC1I2 1781 genome.wustl.edu 37 2 172549339 172549339 + Frame_Shift_Del DEL A A - TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 2 172549339 172549339 A - DEL DYNC1I2 ENST00000397119 human ensembl 70_37 +1 known frame_shift_del c.161 p.R57fs 1.000 NULL pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC DYNC2H1 79659 genome.wustl.edu 37 11 103187327 103187327 + Frame_Shift_Del DEL C C - TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 11 103187327 103187327 C - DEL DYNC2H1 ENST00000398093 human ensembl 70_37 +1 known frame_shift_del c.11724 p.N3908fs 0.996 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC EGFR 1956 genome.wustl.edu 37 7 55214393 55214393 + Silent SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 7 55214393 55214393 C G SNP EGFR ENST00000275493 human ensembl 70_37 +1 known silent c.519 p.L173 0.009 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EGFR HGNC ELMO1 9844 genome.wustl.edu 37 7 37298896 37298896 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 7 37298896 37298896 C T SNP ELMO1 ENST00000310758 human ensembl 70_37 -1 known silent c.303 p.L101 1.000 superfamily_ARM-type_fold pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENAM 10117 genome.wustl.edu 37 4 71509510 71509510 + Missense_Mutation SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 4 71509510 71509510 G C SNP ENAM ENST00000396073 human ensembl 70_37 +1 known missense c.2367 p.Q789H 0.488 NULL NULL - no_errors ENAM HGNC EXOSC4 54512 genome.wustl.edu 37 8 145135043 145135043 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 8 145135043 145135043 C G SNP EXOSC4 ENST00000316052 human ensembl 70_37 +1 known missense c.369 p.I123M 1.000 pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC4 HGNC FANCA 2175 genome.wustl.edu 37 16 89805325 89805325 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 16 89805325 89805325 G A SNP FANCA ENST00000389301 human ensembl 70_37 -1 known missense c.4225 p.R1409W 0.243 NULL pfam_Fanconia,prints_Fanconia - no_errors FANCA HGNC FANCL 55120 genome.wustl.edu 37 2 58388716 58388716 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 2 58388716 58388716 C T SNP FANCL ENST00000233741 human ensembl 70_37 -1 known missense c.961 p.D321N 1.000 NULL pfam_FancL_WD-rpt_cont_dom - no_errors FANCL HGNC FAT1 2195 genome.wustl.edu 37 4 187540003 187540003 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 4 187540003 187540003 G A SNP FAT1 ENST00000441802 human ensembl 70_37 -1 known silent c.7737 p.F2579 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT1 HGNC FAT4 79633 genome.wustl.edu 37 4 126411397 126411397 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 4 126411397 126411397 C G SNP FAT4 ENST00000394329 human ensembl 70_37 +1 known missense c.13420 p.P4474A 1.000 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC FBXW12 285231 genome.wustl.edu 37 3 48423302 48423302 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 3 48423302 48423302 C T SNP FBXW12 ENST00000296438 human ensembl 70_37 +1 known silent c.1098 p.F366 0.335 superfamily_Quino_amine_DH_bsu pfam_F-box_dom_cyclin-like,superfamily_Quino_amine_DH_bsu,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXW12 HGNC FCRL1 115350 genome.wustl.edu 37 1 157773666 157773666 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 157773666 157773666 C G SNP FCRL1 ENST00000368176 human ensembl 70_37 -1 known missense c.288 p.L96F 0.000 smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL1 HGNC FCRL1 115350 genome.wustl.edu 37 1 157789795 157789795 + Splice_Site SNP A A G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 157789795 157789795 A G SNP FCRL1 ENST00000368176 human ensembl 70_37 -1 known splice_site c.31+2 e1+2 1.000 - - - no_errors FCRL1 HGNC FKBP8 23770 genome.wustl.edu 37 19 18643524 18643524 + Missense_Mutation SNP G G T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 19 18643524 18643524 G T SNP FKBP8 ENST00000453489 human ensembl 70_37 -1 known missense c.1189 p.L397M 1.000 NULL pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP8 HGNC FRAS1 80144 genome.wustl.edu 37 4 79368028 79368028 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 4 79368028 79368028 G A SNP FRAS1 ENST00000264895 human ensembl 70_37 +1 known missense c.6004 p.D2002N 0.971 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC FZD4 8322 genome.wustl.edu 37 11 86665891 86665891 + Silent SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 11 86665891 86665891 C G SNP FZD4 ENST00000531380 human ensembl 70_37 -1 known silent c.237 p.L79 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 FZD4 HGNC GGH 8836 genome.wustl.edu 37 8 63939811 63939811 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 8 63939811 63939811 C T SNP GGH ENST00000260118 human ensembl 70_37 -1 known missense c.289 p.G97R 1.000 pfam_Peptidase_C26,pfam_GATASE_1 pfam_Peptidase_C26,pfam_GATASE_1 - no_errors GGH HGNC GPR137B 7107 genome.wustl.edu 37 1 236341882 236341882 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 236341882 236341882 C G SNP GPR137B ENST00000366592 human ensembl 70_37 +1 known missense c.633 p.I211M 1.000 NULL NULL - no_errors GPR137B HGNC GPR156 165829 genome.wustl.edu 37 3 119886955 119886955 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 3 119886955 119886955 C G SNP GPR156 ENST00000315843 human ensembl 70_37 -1 known missense c.1369 p.E457Q 0.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B - no_errors GPR156 HGNC GPR176 11245 genome.wustl.edu 37 15 40093815 40093815 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 15 40093815 40093815 C T SNP GPR176 ENST00000561100 human ensembl 70_37 -1 known missense c.1066 p.E356K 0.983 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR176 HGNC GPR20 2843 genome.wustl.edu 37 8 142367298 142367298 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 8 142367298 142367298 G A SNP GPR20 ENST00000377741 human ensembl 70_37 -1 known silent c.726 p.L242 0.970 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR20 HGNC GSN 2934 genome.wustl.edu 37 9 124091306 124091306 + RNA SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 9 124091306 124091306 G A SNP GSN ENST00000477553 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors GSN HGNC GTF3C2 2976 genome.wustl.edu 37 2 27565900 27565900 + Nonsense_Mutation SNP G G T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 2 27565900 27565900 G T SNP GTF3C2 ENST00000264720 human ensembl 70_37 -1 known nonsense c.362 p.S121* 0.958 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GTF3C2 HGNC GTF3C5 9328 genome.wustl.edu 37 9 135931307 135931307 + RNA SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 9 135931307 135931307 G C SNP GTF3C5 ENST00000489842 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors GTF3C5 HGNC HTR1F 3355 genome.wustl.edu 37 3 88040735 88040735 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 3 88040735 88040735 G A SNP HTR1F ENST00000319595 human ensembl 70_37 +1 known missense c.836 p.R279K 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1F_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1F_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR1F HGNC HTT 3064 genome.wustl.edu 37 4 3136143 3136143 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 4 3136143 3136143 C G SNP HTT ENST00000355072 human ensembl 70_37 +1 known missense c.2509 p.L837V 0.969 superfamily_ARM-type_fold pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC IFNGR1 3459 genome.wustl.edu 37 6 137519721 137519721 + Nonsense_Mutation SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 6 137519721 137519721 G C SNP IFNGR1 ENST00000367739 human ensembl 70_37 -1 known nonsense c.917 p.S306* 0.199 pfam_Interferon_gamma_pox/mammal pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu - no_errors IFNGR1 HGNC IMMP2L 83943 genome.wustl.edu 37 7 110526718 110526718 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 7 110526718 110526718 G A SNP IMMP2L ENST00000331762 human ensembl 70_37 -1 known silent c.339 p.V113 0.921 superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1 pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1,tigrfam_Pept_S26A_signal_pept_1 - no_errors IMMP2L HGNC IQGAP1 8826 genome.wustl.edu 37 15 90992855 90992855 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 15 90992855 90992855 C T SNP IQGAP1 ENST00000268182 human ensembl 70_37 +1 known missense c.1142 p.A381V 0.369 NULL 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 ITGA7 3679 genome.wustl.edu 37 12 56094855 56094855 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 12 56094855 56094855 G A SNP ITGA7 ENST00000555728 human ensembl 70_37 -1 known silent c.498 p.L166 0.627 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC JUP 3728 genome.wustl.edu 37 17 39777876 39777876 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 17 39777876 39777876 C T SNP JUP ENST00000540235 human ensembl 70_37 -1 known missense c.1280 p.R427H 0.998 pfam_F,superfamily_Prefoldin pfam_F,pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo,pfscan_Armadillo,prints_Keratin_I,prints_Beta-catenin - no_errors JUP HGNC KCNAB1 7881 genome.wustl.edu 37 3 156192551 156192551 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 3 156192551 156192551 G A SNP KCNAB1 ENST00000490337 human ensembl 70_37 +1 known silent c.600 p.Q200 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,tigrfam_K_chnl_volt-dep_bsu_KCNAB pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB1 HGNC KIAA1033 23325 genome.wustl.edu 37 12 105558478 105558478 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 12 105558478 105558478 G A SNP KIAA1033 ENST00000332180 human ensembl 70_37 +1 known silent c.3414 p.K1138 1.000 NULL NULL - no_errors KIAA1033 HGNC KIF12 113220 genome.wustl.edu 37 9 116854235 116854235 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 9 116854235 116854235 C T SNP KIF12 ENST00000259410 human ensembl 70_37 -1 known missense c.1847 p.R616K 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF12 HGNC KIF26B 55083 genome.wustl.edu 37 1 245850144 245850144 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 245850144 245850144 G A SNP KIF26B ENST00000407071 human ensembl 70_37 +1 known missense c.3859 p.A1287T 0.612 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC KIFC2 90990 genome.wustl.edu 37 8 145698053 145698053 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 8 145698053 145698053 C T SNP KIFC2 ENST00000301332 human ensembl 70_37 +1 known missense c.1825 p.R609C 0.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIFC2 HGNC KLHL15 80311 genome.wustl.edu 37 X 24024244 24024244 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 X 24024244 24024244 C T SNP KLHL15 ENST00000328046 human ensembl 70_37 -1 known silent c.567 p.L189 1.000 pfam_BACK,smart_BACK,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 KLHL15 HGNC LEFTY2 7044 genome.wustl.edu 37 1 226127637 226127637 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 226127637 226127637 G A SNP LEFTY2 ENST00000366820 human ensembl 70_37 -1 known missense c.316 p.R106W 0.988 pfam_TGF-b_N,pirsf_LRDF,prints_LRDF pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_LRDF,prints_LRDF - no_errors LEFTY2 HGNC LEPR 3953 genome.wustl.edu 37 1 66058453 66058453 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 66058453 66058453 C G SNP LEPR ENST00000349533 human ensembl 70_37 +1 known missense c.608 p.A203G 0.870 NULL pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LEPR HGNC LIMA1 51474 genome.wustl.edu 37 12 50625463 50625463 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 12 50625463 50625463 C T SNP LIMA1 ENST00000394943 human ensembl 70_37 -1 known missense c.150 p.M50I 0.610 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMA1 HGNC LOC100507419 100507419 genome.wustl.edu 37 16 3107626 3107626 + RNA SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 16 3107626 3107626 C G SNP LOC100507419 ENST00000573953 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-473M20.7 Clone_based_vega_gene LRIG2 9860 genome.wustl.edu 37 1 113658995 113658995 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 113658995 113658995 G A SNP LRIG2 ENST00000361127 human ensembl 70_37 +1 known missense c.2617 p.E873K 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIG2 HGNC MCRS1 10445 genome.wustl.edu 37 12 49958304 49958304 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 12 49958304 49958304 C G SNP MCRS1 ENST00000357123 human ensembl 70_37 -1 known missense c.556 p.E186Q 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MCRS1 HGNC MCRS1 10445 genome.wustl.edu 37 12 49958552 49958552 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 12 49958552 49958552 C T SNP MCRS1 ENST00000357123 human ensembl 70_37 -1 known missense c.454 p.D152N 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MCRS1 HGNC MED12L 116931 genome.wustl.edu 37 3 150873999 150873999 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 3 150873999 150873999 C G SNP MED12L ENST00000474524 human ensembl 70_37 +1 known missense c.608 p.S203C 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC MGAM 8972 genome.wustl.edu 37 7 141794572 141794572 + Missense_Mutation SNP T T C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 7 141794572 141794572 T C SNP MGAM ENST00000549489 human ensembl 70_37 +1 known missense c.4679 p.F1560S 0.990 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC MIA3 375056 genome.wustl.edu 37 1 222801802 222801802 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 222801802 222801802 G A SNP MIA3 ENST00000344441 human ensembl 70_37 +1 known missense c.1240 p.D414N 0.998 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC MIR4485 100616263 genome.wustl.edu 37 MT 1746 1746 + RNA SNP A A G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 MT 1746 1746 A G SNP MIR4485 ENST00000387347 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors MIR4485 HGNC MKLN1 4289 genome.wustl.edu 37 7 131082109 131082109 + Nonsense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 7 131082109 131082109 C T SNP MKLN1 ENST00000352689 human ensembl 70_37 +1 known nonsense c.484 p.Q162* 1.000 pfam_Muskelin_N pfam_Muskelin_N,pfam_Kelch_1,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_LisH_dimerisation,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors MKLN1 HGNC KMT2C 58508 genome.wustl.edu 37 7 151845151 151845151 + Nonsense_Mutation SNP C C A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 7 151845151 151845151 C A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.14032 p.E4678* 1.000 pfam_FYrich_C,smart_FYrich_C 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 MPZL1 9019 genome.wustl.edu 37 1 167757061 167757061 + Nonsense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 167757061 167757061 C T SNP MPZL1 ENST00000474859 human ensembl 70_37 +1 known nonsense c.610 p.Q204* 1.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Myelin_P0 - no_errors MPZL1 HGNC MTMR1 8776 genome.wustl.edu 37 X 149931144 149931144 + Nonsense_Mutation SNP C C A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 X 149931144 149931144 C A SNP MTMR1 ENST00000445323 human ensembl 70_37 +1 known nonsense c.1964 p.S655* 0.865 NULL pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase - no_errors MTMR1 HGNC MUC16 94025 genome.wustl.edu 37 19 9059312 9059312 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 19 9059312 9059312 C T SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known silent c.28134 p.S9378 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC16 94025 genome.wustl.edu 37 19 9073717 9073717 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 19 9073717 9073717 C T SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.13729 p.A4577T 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC17 140453 genome.wustl.edu 37 7 100677044 100677044 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 7 100677044 100677044 G A SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known missense c.2347 p.E783K 0.004 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC MXRA5 25878 genome.wustl.edu 37 X 3228968 3228968 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 X 3228968 3228968 C T SNP MXRA5 ENST00000217939 human ensembl 70_37 -1 known missense c.7276 p.E2426K 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC MYO1H 283446 genome.wustl.edu 37 12 109834304 109834304 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 12 109834304 109834304 G A SNP MYO1H ENST00000431443 human ensembl 70_37 +1 known missense c.358 p.E120K 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1H HGNC MYO9B 4650 genome.wustl.edu 37 19 17263479 17263479 + Missense_Mutation SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 19 17263479 17263479 G C SNP MYO9B ENST00000594824 human ensembl 70_37 +1 known missense c.961 p.E321Q 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC MYOM3 127294 genome.wustl.edu 37 1 24413279 24413279 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 24413279 24413279 C T SNP MYOM3 ENST00000330966 human ensembl 70_37 -1 known silent c.1656 p.S552 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM3 HGNC MYRIP 25924 genome.wustl.edu 37 3 40223858 40223858 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 3 40223858 40223858 G A SNP MYRIP ENST00000302541 human ensembl 70_37 +1 known missense c.1021 p.E341K 0.064 pfam_Myrip/Melanophilin pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors MYRIP HGNC NAA16 79612 genome.wustl.edu 37 13 41936244 41936244 + Missense_Mutation SNP G G T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 13 41936244 41936244 G T SNP NAA16 ENST00000379406 human ensembl 70_37 +1 known missense c.1488 p.Q496H 1.000 pirsf_NatA_aux_su pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR-1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA16 HGNC NAP1L3 4675 genome.wustl.edu 37 X 92928398 92928398 + RNA SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 X 92928398 92928398 G A SNP NAP1L3 ENST00000475430 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors NAP1L3 HGNC NCOA2 10499 genome.wustl.edu 37 8 71128948 71128948 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 8 71128948 71128948 G A SNP NCOA2 ENST00000452400 human ensembl 70_37 -1 known silent c.33 p.P11 0.738 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 NCOR2 9612 genome.wustl.edu 37 12 124914165 124914165 + Missense_Mutation SNP C C A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 12 124914165 124914165 C A SNP NCOR2 ENST00000356219 human ensembl 70_37 -1 known missense c.1143 p.E381D 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC NEK8 284086 genome.wustl.edu 37 17 27061104 27061104 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 17 27061104 27061104 G A SNP NEK8 ENST00000268766 human ensembl 70_37 +1 known missense c.151 p.E51K 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_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_cat_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK8 HGNC NFE2L2 4780 genome.wustl.edu 37 2 178096193 178096193 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 2 178096193 178096193 C G SNP NFE2L2 ENST00000397062 human ensembl 70_37 -1 known missense c.1138 p.E380Q 1.000 superfamily_Serpin_dom pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC NFE2L2 4780 genome.wustl.edu 37 2 178097218 178097218 + Nonsense_Mutation SNP C C A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 2 178097218 178097218 C A SNP NFE2L2 ENST00000397062 human ensembl 70_37 -1 known nonsense c.496 p.E166* 0.027 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC NFKBIA 4792 genome.wustl.edu 37 14 35872941 35872941 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 14 35872941 35872941 C T SNP NFKBIA ENST00000216797 human ensembl 70_37 -1 known silent c.291 p.V97 0.260 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors NFKBIA HGNC NLRP12 91662 genome.wustl.edu 37 19 54327207 54327207 + Silent SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 19 54327207 54327207 G C SNP NLRP12 ENST00000324134 human ensembl 70_37 -1 known silent c.222 p.L74 0.004 pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC NPAS4 266743 genome.wustl.edu 37 11 66188674 66188674 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 11 66188674 66188674 C T SNP NPAS4 ENST00000311034 human ensembl 70_37 +1 known silent c.24 p.A8 0.995 NULL pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC NRK 203447 genome.wustl.edu 37 X 105152804 105152804 + Nonsense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 X 105152804 105152804 C T SNP NRK ENST00000428173 human ensembl 70_37 +1 known nonsense c.1174 p.Q392* 0.999 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,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 NRK HGNC NRK 203447 genome.wustl.edu 37 X 105153049 105153049 + Silent SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 X 105153049 105153049 G C SNP NRK ENST00000428173 human ensembl 70_37 +1 known silent c.1419 p.R473 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,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 NRK HGNC OR2A12 346525 genome.wustl.edu 37 7 143792716 143792716 + Missense_Mutation SNP G G T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 7 143792716 143792716 G T SNP OR2A12 ENST00000408949 human ensembl 70_37 +1 known missense c.516 p.K172N 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A12 HGNC OR4C12 283093 genome.wustl.edu 37 11 50003766 50003766 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 11 50003766 50003766 G A SNP OR4C12 ENST00000335238 human ensembl 70_37 -1 known missense c.272 p.S91F 0.635 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 OR4C12 HGNC OR4M1 441670 genome.wustl.edu 37 14 20249054 20249054 + Missense_Mutation SNP C C A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 14 20249054 20249054 C A SNP OR4M1 ENST00000315957 human ensembl 70_37 +1 known missense c.573 p.N191K 0.996 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 OR4M1 HGNC OR5H6 79295 genome.wustl.edu 37 3 97983880 97983880 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 3 97983880 97983880 G A SNP OR5H6 ENST00000383696 human ensembl 70_37 +1 known missense c.752 p.R251Q 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H6 HGNC OXTR 5021 genome.wustl.edu 37 3 8809033 8809033 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 3 8809033 8809033 C T SNP OXTR ENST00000316793 human ensembl 70_37 -1 known missense c.841 p.V281M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Oxytocn_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors OXTR HGNC PALLD 23022 genome.wustl.edu 37 4 169433387 169433387 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 4 169433387 169433387 G A SNP PALLD ENST00000261509 human ensembl 70_37 +1 known silent c.732 p.Q244 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PALLD HGNC PAN3 255967 genome.wustl.edu 37 13 28866556 28866556 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 13 28866556 28866556 C T SNP PAN3 ENST00000380958 human ensembl 70_37 +1 known missense c.2561 p.S854F 1.000 NULL superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_cat_dom - no_errors PAN3 HGNC PARP1 142 genome.wustl.edu 37 1 226578157 226578157 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 226578157 226578157 C G SNP PARP1 ENST00000366794 human ensembl 70_37 -1 known missense c.571 p.D191H 1.000 pfam_Znf_PARP,pirsf_NAD_ADPRT,pfscan_Znf_PARP 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 PCDH18 54510 genome.wustl.edu 37 4 138453180 138453180 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 4 138453180 138453180 G A SNP PCDH18 ENST00000344876 human ensembl 70_37 -1 known silent c.63 p.F21 0.100 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC PCDHA13 56136 genome.wustl.edu 37 5 140263677 140263677 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 5 140263677 140263677 G A SNP PCDHA13 ENST00000289272 human ensembl 70_37 +1 known silent c.1824 p.S608 0.009 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 PCDHGA5 56110 genome.wustl.edu 37 5 140744563 140744563 + Silent SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 5 140744563 140744563 C G SNP PCDHGA5 ENST00000518069 human ensembl 70_37 +1 known silent c.666 p.L222 0.243 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 PCDHGA5 HGNC PCLO 27445 genome.wustl.edu 37 7 82595426 82595426 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 7 82595426 82595426 C G SNP PCLO ENST00000333891 human ensembl 70_37 -1 known missense c.3678 p.K1226N 0.000 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 PELI3 246330 genome.wustl.edu 37 11 66240739 66240739 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 11 66240739 66240739 G A SNP PELI3 ENST00000320740 human ensembl 70_37 +1 known missense c.484 p.D162N 1.000 pfam_Pellino pfam_Pellino - no_errors PELI3 HGNC PHF2 5253 genome.wustl.edu 37 9 96339125 96339125 + Missense_Mutation SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 9 96339125 96339125 G C SNP PHF2 ENST00000359246 human ensembl 70_37 +1 known missense c.70 p.D24H 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC PHRF1 57661 genome.wustl.edu 37 11 610993 610993 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 11 610993 610993 G A SNP PHRF1 ENST00000264555 human ensembl 70_37 +1 known missense c.4717 p.E1573K 1.000 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC PITHD1 57095 genome.wustl.edu 37 1 24112168 24112168 + Nonsense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 24112168 24112168 C G SNP PITHD1 ENST00000246151 human ensembl 70_37 +1 known nonsense c.324 p.Y108* 1.000 pfam_PITH_dom,superfamily_Galactose-bd-like pfam_PITH_dom,superfamily_Galactose-bd-like - no_errors PITHD1 HGNC PITX2 5308 genome.wustl.edu 37 4 111542526 111542526 + Splice_Site SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 4 111542526 111542526 C T SNP PITX2 ENST00000306732 human ensembl 70_37 -1 known splice_site c.206-1 e2-1 1.000 - - - no_errors PITX2 HGNC PIWIL1 9271 genome.wustl.edu 37 12 130856118 130856118 + Missense_Mutation SNP T T C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 12 130856118 130856118 T C SNP PIWIL1 ENST00000245255 human ensembl 70_37 +1 known missense c.2561 p.L854P 1.000 superfamily_RNaseH-like_dom pfam_Piwi,pfam_PAZ,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL1 HGNC PLXNA1 5361 genome.wustl.edu 37 3 126737155 126737155 + Nonsense_Mutation SNP G G T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 3 126737155 126737155 G T SNP PLXNA1 ENST00000393409 human ensembl 70_37 +1 known nonsense c.3679 p.E1227* 0.995 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 PLXNA1 HGNC PLXNC1 10154 genome.wustl.edu 37 12 94676114 94676114 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 12 94676114 94676114 C T SNP PLXNC1 ENST00000258526 human ensembl 70_37 +1 known silent c.3816 p.I1272 0.959 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 PRKDC 5591 genome.wustl.edu 37 8 48701765 48701765 + Missense_Mutation SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 8 48701765 48701765 G C SNP PRKDC ENST00000314191 human ensembl 70_37 -1 known missense c.10702 p.Q3568E 1.000 NULL 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 48794602 48794602 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 8 48794602 48794602 C G SNP PRKDC ENST00000314191 human ensembl 70_37 -1 known missense c.4830 p.Q1610H 0.990 superfamily_ARM-type_fold 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 PROSC 11212 genome.wustl.edu 37 8 37630362 37630362 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 8 37630362 37630362 G A SNP PROSC ENST00000328195 human ensembl 70_37 +1 known missense c.409 p.E137K 0.978 pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001 pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001 - no_errors PROSC HGNC PTPRG 5793 genome.wustl.edu 37 3 62263226 62263226 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 3 62263226 62263226 G A SNP PTPRG ENST00000474889 human ensembl 70_37 +1 known missense c.3637 p.G1213S 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,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,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC PTPRK 5796 genome.wustl.edu 37 6 128403634 128403634 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 6 128403634 128403634 C T SNP PTPRK ENST00000368227 human ensembl 70_37 -1 known silent c.1725 p.T575 0.008 pfam_Fibronectin_type3,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 PTPRU 10076 genome.wustl.edu 37 1 29652239 29652239 + RNA SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 29652239 29652239 G A SNP PTPRU ENST00000465525 human ensembl 70_37 +1 known rna NULL NULL 0.210 - - - no_errors PTPRU HGNC PURG 29942 genome.wustl.edu 37 8 30889906 30889906 + Silent SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 8 30889906 30889906 C G SNP PURG ENST00000475541 human ensembl 70_37 -1 known silent c.393 p.L131 1.000 pfam_PUR_DNA_RNA-bd pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd - no_errors PURG HGNC RAD23B 5887 genome.wustl.edu 37 9 110068879 110068879 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 9 110068879 110068879 G A SNP RAD23B ENST00000358015 human ensembl 70_37 +1 known missense c.448 p.E150K 1.000 tigrfam_Rad23 pfam_XPC-bd,pfam_Ubiquitin,pfam_UBA/transl_elong_EF1B_N,pfam_SUMO,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,prints_Rad23,tigrfam_Rad23 - no_errors RAD23B HGNC RAPGEF2 9693 genome.wustl.edu 37 4 160253725 160253725 + Missense_Mutation SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 4 160253725 160253725 G C SNP RAPGEF2 ENST00000264431 human ensembl 70_37 +1 known missense c.1528 p.E510Q 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF2 HGNC RELN 5649 genome.wustl.edu 37 7 103141295 103141295 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 7 103141295 103141295 C T SNP RELN ENST00000424685 human ensembl 70_37 -1 known missense c.8564 p.G2855E 1.000 superfamily_Neuraminidase,smart_EG-like_dom pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC RILP 83547 genome.wustl.edu 37 17 1551691 1551691 + Silent SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 17 1551691 1551691 G C SNP RILP ENST00000301336 human ensembl 70_37 -1 known silent c.774 p.L258 1.000 pfam_RILP pfam_RILP,pfam_JNK/Rab-associated_protein-1_N - no_errors RILP HGNC RRN3 54700 genome.wustl.edu 37 16 15155747 15155747 + Nonsense_Mutation SNP C C A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 16 15155747 15155747 C A SNP RRN3 ENST00000198767 human ensembl 70_37 -1 known nonsense c.1810 p.E604* 1.000 NULL pfam_RNA_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold - no_errors RRN3 HGNC RRP9 9136 genome.wustl.edu 37 3 51969651 51969651 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 3 51969651 51969651 C T SNP RRP9 ENST00000232888 human ensembl 70_37 -1 known missense c.793 p.V265M 0.999 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep 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 RRP9 HGNC RYR2 6262 genome.wustl.edu 37 1 237774171 237774171 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 237774171 237774171 G A SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.4787 p.R1596K 0.999 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,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 SERPINH1 871 genome.wustl.edu 37 11 75277832 75277832 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 11 75277832 75277832 C T SNP SERPINH1 ENST00000358171 human ensembl 70_37 +1 known silent c.438 p.F146 0.997 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINH1 HGNC SERPINI1 5274 genome.wustl.edu 37 3 167508190 167508190 + Nonsense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 3 167508190 167508190 C G SNP SERPINI1 ENST00000295777 human ensembl 70_37 +1 known nonsense c.281 p.S94* 0.995 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINI1 HGNC SH2B1 25970 genome.wustl.edu 37 16 28884849 28884849 + Missense_Mutation SNP C C A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 16 28884849 28884849 C A SNP SH2B1 ENST00000322610 human ensembl 70_37 +1 known missense c.1979 p.A660E 0.994 NULL pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2B1 HGNC SIPA1L2 57568 genome.wustl.edu 37 1 232650310 232650310 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 232650310 232650310 G A SNP SIPA1L2 ENST00000262861 human ensembl 70_37 -1 known missense c.776 p.S259L 1.000 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L2 HGNC SLC17A8 246213 genome.wustl.edu 37 12 100787219 100787219 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 12 100787219 100787219 C T SNP SLC17A8 ENST00000323346 human ensembl 70_37 +1 known silent c.546 p.Y182 0.978 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A8 HGNC SLC25A21 89874 genome.wustl.edu 37 14 37283178 37283178 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 14 37283178 37283178 G A SNP SLC25A21 ENST00000331299 human ensembl 70_37 -1 known missense c.148 p.P50S 1.000 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 SLC25A21 HGNC SLC4A10 57282 genome.wustl.edu 37 2 162757477 162757477 + Missense_Mutation SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 2 162757477 162757477 G C SNP SLC4A10 ENST00000446997 human ensembl 70_37 +1 known missense c.1398 p.E466D 0.999 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A10 HGNC SLITRK1 114798 genome.wustl.edu 37 13 84455071 84455071 + Missense_Mutation SNP G G T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 13 84455071 84455071 G T SNP SLITRK1 ENST00000377084 human ensembl 70_37 -1 known missense c.572 p.T191K 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC SOCS6 9306 genome.wustl.edu 37 18 67992741 67992741 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 18 67992741 67992741 C T SNP SOCS6 ENST00000397942 human ensembl 70_37 +1 known silent c.837 p.I279 1.000 NULL pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS6 HGNC SORBS1 10580 genome.wustl.edu 37 10 97135792 97135792 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 10 97135792 97135792 C G SNP SORBS1 ENST00000361941 human ensembl 70_37 -1 known missense c.1675 p.E559Q 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS1 HGNC SPATA31A6 389730 genome.wustl.edu 37 9 43625223 43625223 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 9 43625223 43625223 G A SNP SPATA31A6 ENST00000332857 human ensembl 70_37 -1 known missense c.3464 p.S1155L 0.000 NULL NULL - no_errors SPATA31A6 HGNC SPATA31D1 389763 genome.wustl.edu 37 9 84607959 84607959 + Missense_Mutation SNP G G T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 9 84607959 84607959 G T SNP SPATA31D1 ENST00000344803 human ensembl 70_37 +1 known missense c.2574 p.K858N 0.000 NULL NULL - no_errors SPATA31D1 HGNC SPTA1 6708 genome.wustl.edu 37 1 158639538 158639538 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 158639538 158639538 G A SNP SPTA1 ENST00000368148 human ensembl 70_37 -1 known silent c.1638 p.D546 0.002 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC STAB2 55576 genome.wustl.edu 37 12 104092950 104092950 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 12 104092950 104092950 G A SNP STAB2 ENST00000388887 human ensembl 70_37 +1 known missense c.3659 p.R1220H 1.000 pfam_FAS1_domain,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC STX11 8676 genome.wustl.edu 37 6 144508376 144508376 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 6 144508376 144508376 C T SNP STX11 ENST00000367568 human ensembl 70_37 +1 known silent c.612 p.L204 1.000 superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX11 HGNC SUFU 51684 genome.wustl.edu 37 10 104375151 104375151 + Silent SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 10 104375151 104375151 C G SNP SUFU ENST00000369902 human ensembl 70_37 +1 known silent c.1149 p.L383 0.999 pfam_SUFU_C,pirsf_Suppressor_of_fused_protein pfam_SUFU_C,pfam_SUFU_domain,pirsf_Suppressor_of_fused_protein - no_errors SUFU HGNC SUMF1 285362 genome.wustl.edu 37 3 4458918 4458918 + Missense_Mutation SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 3 4458918 4458918 G C SNP SUMF1 ENST00000448413 human ensembl 70_37 -1 known missense c.734 p.P245R 1.000 pfam_FGE_dom,superfamily_C-type_lectin_fold pfam_FGE_dom,superfamily_C-type_lectin_fold - no_errors SUMF1 HGNC SYK 6850 genome.wustl.edu 37 9 93636954 93636954 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 9 93636954 93636954 G A SNP SYK ENST00000375746 human ensembl 70_37 +1 known missense c.1004 p.G335D 0.947 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 SYK HGNC TAF6 6878 genome.wustl.edu 37 7 99709583 99709583 + Missense_Mutation SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 7 99709583 99709583 G C SNP TAF6 ENST00000344095 human ensembl 70_37 -1 known missense c.760 p.Q254E 1.000 superfamily_ARM-type_fold pfam_DUF1546,pfam_TAF_TATA-bd,superfamily_Histone-fold,superfamily_ARM-type_fold,smart_TAF_TATA-bd - no_errors TAF6 HGNC TCF20 6942 genome.wustl.edu 37 22 42608264 42608264 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 22 42608264 42608264 C G SNP TCF20 ENST00000359486 human ensembl 70_37 -1 known missense c.3048 p.L1016F 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC TDRD5 163589 genome.wustl.edu 37 1 179561978 179561978 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 179561978 179561978 G A SNP TDRD5 ENST00000444136 human ensembl 70_37 +1 known silent c.228 p.L76 0.634 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD5 HGNC TEAD1 7003 genome.wustl.edu 37 11 12886424 12886424 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 11 12886424 12886424 C T SNP TEAD1 ENST00000361905 human ensembl 70_37 +1 known missense c.262 p.R88C 1.000 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,prints_TEA/ATTS,pfscan_TEA/ATTS - no_errors TEAD1 HGNC TEX15 56154 genome.wustl.edu 37 8 30695564 30695564 + Missense_Mutation SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 8 30695564 30695564 G C SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.7087 p.H2363D 0.303 NULL NULL - no_errors TEX15 HGNC THRAP3 9967 genome.wustl.edu 37 1 36754981 36754981 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 36754981 36754981 C T SNP THRAP3 ENST00000354618 human ensembl 70_37 +1 known missense c.1361 p.S454F 0.999 NULL NULL - no_errors THRAP3 HGNC TM2D3 80213 genome.wustl.edu 37 15 102187096 102187096 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 15 102187096 102187096 C G SNP TM2D3 ENST00000333202 human ensembl 70_37 -1 known missense c.334 p.D112H 0.951 NULL pfam_TM2 - no_errors TM2D3 HGNC TMEM168 64418 genome.wustl.edu 37 7 112424409 112424409 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 7 112424409 112424409 C T SNP TMEM168 ENST00000312814 human ensembl 70_37 -1 known missense c.472 p.E158K 1.000 NULL superfamily_ConA-like_lec_gl_sf - no_errors TMEM168 HGNC TMEM200C 645369 genome.wustl.edu 37 18 5891558 5891558 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 18 5891558 5891558 C T SNP TMEM200C ENST00000383490 human ensembl 70_37 -1 known missense c.505 p.G169R 1.000 pfam_DUF2371_TMEM200 pfam_DUF2371_TMEM200 - no_errors TMEM200C HGNC TNC 3371 genome.wustl.edu 37 9 117810761 117810761 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 9 117810761 117810761 C T SNP TNC ENST00000350763 human ensembl 70_37 -1 known missense c.4630 p.G1544R 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC TNC 3371 genome.wustl.edu 37 9 117838840 117838840 + Missense_Mutation SNP T T C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 9 117838840 117838840 T C SNP TNC ENST00000350763 human ensembl 70_37 -1 known missense c.2689 p.R897G 0.982 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC TRAF6 7189 genome.wustl.edu 37 11 36511976 36511977 + Frame_Shift_Ins INS - - A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 11 36511976 36511977 - A INS TRAF6 ENST00000348124 human ensembl 70_37 -1 known frame_shift_ins c.981_980 p.S328fs 0.444:0.899 pirsf_TNF_rcpt--assoc_TRAF pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF6 HGNC TRIM56 81844 genome.wustl.edu 37 7 100730990 100730990 + Missense_Mutation SNP G G T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 7 100730990 100730990 G T SNP TRIM56 ENST00000306085 human ensembl 70_37 +1 known missense c.397 p.D133Y 0.821 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM56 HGNC TRIML1 339976 genome.wustl.edu 37 4 189061706 189061706 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 4 189061706 189061706 C G SNP TRIML1 ENST00000332517 human ensembl 70_37 +1 known missense c.433 p.L145V 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIML1 HGNC TRIML1 339976 genome.wustl.edu 37 4 189068346 189068346 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 4 189068346 189068346 C T SNP TRIML1 ENST00000332517 human ensembl 70_37 +1 known silent c.1227 p.V409 0.436 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIML1 HGNC TTC27 55622 genome.wustl.edu 37 2 32889467 32889467 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 2 32889467 32889467 G A SNP TTC27 ENST00000317907 human ensembl 70_37 +1 known silent c.738 p.E246 0.998 NULL pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC27 HGNC TTN 7273 genome.wustl.edu 37 2 179433734 179433734 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 2 179433734 179433734 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.69421 p.D23141N 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179528038 179528038 + Missense_Mutation SNP A A C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 2 179528038 179528038 A C SNP TTN ENST00000589042 human ensembl 70_37 -1 putative missense c.36655 p.L12219V 0.000 pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,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,superfamily_ARM-type_fold,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 179585223 179585223 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 2 179585223 179585223 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.19534 p.D6512N 1.000 pfam_Ig_I-set,pfam_Ig_V-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,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 179616503 179616503 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 2 179616503 179616503 G A SNP TTN ENST00000360870 human ensembl 70_37 -1 known missense c.10624 p.R3542W 0.969 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like 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 179641067 179641067 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 2 179641067 179641067 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.5524 p.D1842N 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 TUB 7275 genome.wustl.edu 37 11 8120384 8120384 + Missense_Mutation SNP A A T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 11 8120384 8120384 A T SNP TUB ENST00000305253 human ensembl 70_37 +1 known missense c.1243 p.S415C 1.000 pfam_Tubby_C,superfamily_Tubby_C-like pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C - no_errors TUB HGNC TUBB 203068 genome.wustl.edu 37 6 30691826 30691826 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 6 30691826 30691826 G A SNP TUBB ENST00000327892 human ensembl 70_37 +1 known silent c.987 p.Q329 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,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,prints_Alpha_tubulin - no_errors TUBB HGNC UACA 55075 genome.wustl.edu 37 15 70959889 70959889 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 15 70959889 70959889 C G SNP UACA ENST00000322954 human ensembl 70_37 -1 known missense c.3134 p.R1045T 0.000 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 UNCX 340260 genome.wustl.edu 37 7 1273287 1273287 + Missense_Mutation SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 7 1273287 1273287 G C SNP UNCX ENST00000316333 human ensembl 70_37 +1 known missense c.406 p.E136Q 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors UNCX HGNC USP48 84196 genome.wustl.edu 37 1 22032632 22032632 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 1 22032632 22032632 G A SNP USP48 ENST00000308271 human ensembl 70_37 -1 known missense c.2260 p.R754W 1.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC UTP14A 10813 genome.wustl.edu 37 X 129041400 129041400 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 X 129041400 129041400 G A SNP UTP14A ENST00000394422 human ensembl 70_37 +1 known silent c.84 p.L28 0.001 NULL pfam_SSU_processome_Utp14 - no_errors UTP14A HGNC VASN 114990 genome.wustl.edu 37 16 4432189 4432189 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 16 4432189 4432189 G A SNP VASN ENST00000304735 human ensembl 70_37 +1 known silent c.1311 p.T437 0.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors VASN HGNC VDAC1 7416 genome.wustl.edu 37 5 133316707 133316708 + RNA INS - - T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 5 133316707 133316708 - T INS VDAC1 ENST00000492324 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors VDAC1 HGNC VWA3A 146177 genome.wustl.edu 37 16 22132909 22132909 + Nonsense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 16 22132909 22132909 C T SNP VWA3A ENST00000389398 human ensembl 70_37 +1 known nonsense c.1327 p.Q443* 1.000 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3A HGNC WASH6P 653440 genome.wustl.edu 37 X 155254781 155254781 + RNA SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 X 155254781 155254781 G A SNP WASH6P ENST00000461007 human ensembl 70_37 +1 known rna NULL NULL 0.039 - - - no_errors WASH6P HGNC WDFY3 23001 genome.wustl.edu 37 4 85731460 85731460 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 4 85731460 85731460 C G SNP WDFY3 ENST00000295888 human ensembl 70_37 -1 known missense c.1925 p.R642T 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC WWP2 11060 genome.wustl.edu 37 16 69874115 69874115 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 16 69874115 69874115 G A SNP WWP2 ENST00000356003 human ensembl 70_37 +1 known missense c.427 p.G143R 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP - no_errors WWP2 HGNC ZBTB12 221527 genome.wustl.edu 37 6 31868109 31868109 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 6 31868109 31868109 G A SNP ZBTB12 ENST00000375527 human ensembl 70_37 -1 known missense c.974 p.S325L 0.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB12 HGNC ZNF184 7738 genome.wustl.edu 37 6 27419369 27419369 + Silent SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 6 27419369 27419369 G A SNP ZNF184 ENST00000211936 human ensembl 70_37 -1 known silent c.1969 p.L657 0.125 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 ZNF227 7770 genome.wustl.edu 37 19 44740265 44740265 + Nonsense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 19 44740265 44740265 C G SNP ZNF227 ENST00000313040 human ensembl 70_37 +1 known nonsense c.1682 p.S561* 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 ZNF227 HGNC ZNF236 7776 genome.wustl.edu 37 18 74620481 74620481 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 18 74620481 74620481 G A SNP ZNF236 ENST00000253159 human ensembl 70_37 +1 known missense c.2497 p.A833T 0.003 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ZNF25 219749 genome.wustl.edu 37 10 38242111 38242111 + Silent SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 10 38242111 38242111 G C SNP ZNF25 ENST00000302609 human ensembl 70_37 -1 known silent c.315 p.L105 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,pfscan_Krueppel-associated_box - no_errors ZNF25 HGNC ZNF559 84527 genome.wustl.edu 37 19 9453513 9453513 + Missense_Mutation SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 19 9453513 9453513 G C SNP ZNF559 ENST00000393883 human ensembl 70_37 +1 known missense c.1386 p.E462D 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 ZNF559 HGNC ZNF615 284370 genome.wustl.edu 37 19 52496664 52496664 + Silent SNP G G C TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 19 52496664 52496664 G C SNP ZNF615 ENST00000594083 human ensembl 70_37 -1 known silent c.1698 p.L566 0.004 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 ZNF615 HGNC ZNF676 163223 genome.wustl.edu 37 19 22362882 22362882 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15cd6298-445f-487a-b50a-04da5002b6ba cb1606df-1249-4b8c-b3a8-2459fc404891 19 22362882 22362882 G A SNP ZNF676 ENST00000397121 human ensembl 70_37 -1 known missense c.1637 p.S546L 0.004 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC