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 ADAM32 203102 genome.wustl.edu 37 8 39080597 39080597 + Missense_Mutation SNP T T G TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 8 39080597 39080597 T G SNP ADAM32 ENST00000379907 human ensembl 70_37 +1 known missense c.1365 p.H455Q 0.027 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM32 HGNC ADCY8 114 genome.wustl.edu 37 8 132052022 132052022 + Silent SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 8 132052022 132052022 G A SNP ADCY8 ENST00000286355 human ensembl 70_37 -1 known silent c.558 p.N186 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ANGPTL1 9068 genome.wustl.edu 37 1 178822864 178822864 + Silent SNP A A G TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 1 178822864 178822864 A G SNP ANGPTL1 ENST00000234816 human ensembl 70_37 -1 known silent c.882 p.Y294 0.908 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPTL1 HGNC APOBEC4 403314 genome.wustl.edu 37 1 183617796 183617796 + Missense_Mutation SNP C C A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 1 183617796 183617796 C A SNP APOBEC4 ENST00000308641 human ensembl 70_37 -1 known missense c.121 p.A41S 1.000 NULL pfam_APOBEC_N - no_errors APOBEC4 HGNC ARHGEF2 9181 genome.wustl.edu 37 1 155920934 155920934 + Missense_Mutation SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 1 155920934 155920934 G A SNP ARHGEF2 ENST00000368315 human ensembl 70_37 -1 known missense c.2392 p.P798S 0.811 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF2 HGNC ARID1A 8289 genome.wustl.edu 37 1 27057988 27057988 + Nonsense_Mutation SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 1 27057988 27057988 C T SNP ARID1A ENST00000324856 human ensembl 70_37 +1 known nonsense c.1696 p.Q566* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ATP8B3 148229 genome.wustl.edu 37 19 1807256 1807256 + Missense_Mutation SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 19 1807256 1807256 C T SNP ATP8B3 ENST00000539485 human ensembl 70_37 -1 known missense c.526 p.D176N 0.087 tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B3 HGNC B3GALT4 8705 genome.wustl.edu 37 6 33245425 33245425 + Missense_Mutation SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 6 33245425 33245425 G A SNP B3GALT4 ENST00000451237 human ensembl 70_37 +1 known missense c.229 p.V77M 1.000 NULL pfam_Glyco_trans_31 - no_errors B3GALT4 HGNC C14orf79 122616 genome.wustl.edu 37 14 105476633 105476633 + RNA SNP G G T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 14 105476633 105476633 G T SNP C14orf79 ENST00000548178 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors C14orf79 HGNC C15orf62 643338 genome.wustl.edu 37 15 41062838 41062838 + Nonsense_Mutation SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 15 41062838 41062838 C T SNP C15orf62 ENST00000344320 human ensembl 70_37 +1 known nonsense c.145 p.R49* 0.988 NULL NULL - no_errors C15orf62 HGNC CCDC134 79879 genome.wustl.edu 37 22 42209804 42209804 + Missense_Mutation SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 22 42209804 42209804 C T SNP CCDC134 ENST00000255784 human ensembl 70_37 +1 known missense c.542 p.P181L 1.000 NULL NULL - no_errors CCDC134 HGNC CCDC134 79879 genome.wustl.edu 37 22 42209805 42209805 + Silent SNP A A T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 22 42209805 42209805 A T SNP CCDC134 ENST00000255784 human ensembl 70_37 +1 known silent c.543 p.P181 0.989 NULL NULL - no_errors CCDC134 HGNC CCDC78 124093 genome.wustl.edu 37 16 775082 775082 + Missense_Mutation SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 16 775082 775082 G A SNP CCDC78 ENST00000293889 human ensembl 70_37 -1 known missense c.556 p.R186C 0.000 NULL NULL - no_errors CCDC78 HGNC CCND1 595 genome.wustl.edu 37 11 69466021 69466021 + Missense_Mutation SNP C C A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 11 69466021 69466021 C A SNP CCND1 ENST00000227507 human ensembl 70_37 +1 known missense c.859 p.P287T 1.000 NULL pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCND1 HGNC CD163 9332 genome.wustl.edu 37 12 7640635 7640635 + Missense_Mutation SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 12 7640635 7640635 C T SNP CD163 ENST00000359156 human ensembl 70_37 -1 known missense c.1469 p.R490H 1.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors CD163 HGNC CDH10 1008 genome.wustl.edu 37 5 24593378 24593378 + Silent SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 5 24593378 24593378 G A SNP CDH10 ENST00000264463 human ensembl 70_37 -1 known silent c.222 p.Y74 0.986 pfam_Cadherin,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH10 HGNC CNTNAP5 129684 genome.wustl.edu 37 2 125281921 125281921 + Missense_Mutation SNP A A C TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 2 125281921 125281921 A C SNP CNTNAP5 ENST00000431078 human ensembl 70_37 +1 known missense c.1366 p.N456H 0.990 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC COL7A1 1294 genome.wustl.edu 37 3 48629870 48629870 + Missense_Mutation SNP T T G TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 3 48629870 48629870 T G SNP COL7A1 ENST00000328333 human ensembl 70_37 -1 known missense c.1007 p.Q336P 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC CROCCP2 84809 genome.wustl.edu 37 1 16945760 16945760 + RNA SNP A A G TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 1 16945760 16945760 A G SNP CROCCP2 ENST00000412962 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CROCCP2 HGNC CROCCP2 84809 genome.wustl.edu 37 1 16957475 16957475 + RNA SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 1 16957475 16957475 G A SNP CROCCP2 ENST00000362058 human ensembl 70_37 -1 known rna NULL NULL 0.999 - - - no_errors CROCCP2 HGNC CTNNB1 1499 genome.wustl.edu 37 3 41266098 41266098 + Missense_Mutation SNP A A G TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 3 41266098 41266098 A G SNP CTNNB1 ENST00000349496 human ensembl 70_37 +1 known missense c.95 p.D32G 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC DCLK3 85443 genome.wustl.edu 37 3 36756965 36756965 + Missense_Mutation SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 3 36756965 36756965 G A SNP DCLK3 ENST00000416516 human ensembl 70_37 -1 known missense c.1801 p.R601C 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DCLK3 HGNC DMRTC2 63946 genome.wustl.edu 37 19 42351694 42351694 + Silent SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 19 42351694 42351694 C T SNP DMRTC2 ENST00000269945 human ensembl 70_37 +1 known silent c.198 p.C66 1.000 pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTC2 HGNC DNAAF3 352909 genome.wustl.edu 37 19 55672141 55672141 + Silent SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 19 55672141 55672141 C T SNP DNAAF3 ENST00000527223 human ensembl 70_37 -1 known silent c.1119 p.T373 0.002 NULL NULL - no_errors DNAAF3 HGNC DNAH2 146754 genome.wustl.edu 37 17 7701562 7701562 + Missense_Mutation SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 17 7701562 7701562 G A SNP DNAH2 ENST00000389173 human ensembl 70_37 +1 known missense c.8318 p.R2773H 0.999 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 ELP2 55250 genome.wustl.edu 37 18 33713236 33713236 + Silent SNP C C A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 18 33713236 33713236 C A SNP ELP2 ENST00000358232 human ensembl 70_37 +1 known silent c.174 p.T58 0.999 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ELP2 HGNC ENSG00000203876 0 genome.wustl.edu 37 10 111702545 111702545 + Missense_Mutation SNP C C A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 10 111702545 111702545 C A SNP ENSG00000203876 ENST00000369657 human ensembl 70_37 -1 known missense c.194 p.G65V 0.000 NULL NULL - no_errors RP11-451M19.3 Clone_based_vega_gene ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 65793 65793 + Silent SNP T T A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 GL000212.1 65793 65793 T A SNP ENSG00000212857 ENST00000391545 human ensembl 70_37 +1 known silent c.1542 p.A514 NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 65807 65807 + Missense_Mutation SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 GL000212.1 65807 65807 C T SNP ENSG00000212857 ENST00000391545 human ensembl 70_37 +1 known missense c.1556 p.T519M NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 65811 65811 + Silent SNP C C G TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 GL000212.1 65811 65811 C G SNP ENSG00000212857 ENST00000391545 human ensembl 70_37 +1 known silent c.1560 p.P520 NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000227148 0 genome.wustl.edu 37 7 62514788 62514788 + RNA SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 7 62514788 62514788 C T SNP ENSG00000227148 ENST00000450891 human ensembl 70_37 -1 known rna NULL NULL 0.031 - - - no_errors RP11-196D18.1 Clone_based_vega_gene ENSG00000259197 0 genome.wustl.edu 37 9 102067846 102067846 + Silent SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 9 102067846 102067846 C T SNP ENSG00000259197 ENST00000409686 human ensembl 70_37 +1 known silent c.453 p.N151 1.000 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT8P11 Uniprot_genename EYA1 2138 genome.wustl.edu 37 8 72182004 72182004 + Missense_Mutation SNP T T C TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 8 72182004 72182004 T C SNP EYA1 ENST00000340726 human ensembl 70_37 -1 known missense c.1021 p.T341A 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA1 HGNC FAM182A 284800 genome.wustl.edu 37 20 26061832 26061832 + Silent SNP A A C TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 20 26061832 26061832 A C SNP FAM182A ENST00000246000 human ensembl 70_37 +1 known silent c.184 p.R62 0.200 NULL NULL - no_errors FAM182A HGNC FOXRED2 80020 genome.wustl.edu 37 22 36900295 36900295 + Missense_Mutation SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 22 36900295 36900295 G A SNP FOXRED2 ENST00000216187 human ensembl 70_37 -1 known missense c.899 p.P300L 0.805 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors FOXRED2 HGNC GFPT1 2673 genome.wustl.edu 37 2 69573041 69573041 + Missense_Mutation SNP T T G TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 2 69573041 69573041 T G SNP GFPT1 ENST00000357308 human ensembl 70_37 -1 known missense c.1100 p.Y367S 1.000 tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT1 HGNC GFPT2 9945 genome.wustl.edu 37 5 179757762 179757762 + Missense_Mutation SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 5 179757762 179757762 C T SNP GFPT2 ENST00000253778 human ensembl 70_37 -1 known missense c.472 p.D158N 1.000 pfam_GATase_dom pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC GMCL1 64395 genome.wustl.edu 37 2 70057063 70057063 + Missense_Mutation SNP A A T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 2 70057063 70057063 A T SNP GMCL1 ENST00000282570 human ensembl 70_37 +1 known missense c.39 p.R13S 0.339 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors GMCL1 HGNC GNPTAB 79158 genome.wustl.edu 37 12 102179808 102179808 + Missense_Mutation SNP A A G TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 12 102179808 102179808 A G SNP GNPTAB ENST00000299314 human ensembl 70_37 -1 known missense c.553 p.F185L 1.000 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom - no_errors GNPTAB HGNC GOLGA8O 728047 genome.wustl.edu 37 15 32743123 32743123 + Missense_Mutation SNP C C A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 15 32743123 32743123 C A SNP GOLGA8O ENST00000509311 human ensembl 70_37 -1 novel missense c.582 p.K194N 0.095 NULL NULL - no_errors GOLGA8O HGNC GPR78 27201 genome.wustl.edu 37 4 8583293 8583293 + Missense_Mutation SNP T T C TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 4 8583293 8583293 T C SNP GPR78 ENST00000382487 human ensembl 70_37 +1 known missense c.584 p.V195A 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR78 HGNC GTF2F1 2962 genome.wustl.edu 37 19 6380388 6380388 + Silent SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 19 6380388 6380388 G A SNP GTF2F1 ENST00000394456 human ensembl 70_37 -1 known silent c.1458 p.S486 1.000 pfam_TFIIF-alpha pfam_TFIIF-alpha,superfamily_TFIIF_interaction - no_errors GTF2F1 HGNC GTF2IRD2P1 401375 genome.wustl.edu 37 7 72664015 72664016 + RNA INS - - G TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 7 72664015 72664016 - G INS GTF2IRD2P1 ENST00000425256 human ensembl 70_37 -1 known rna NULL NULL 0.912:0.964 - - - no_errors GTF2IRD2P1 HGNC GYS2 2998 genome.wustl.edu 37 12 21711236 21711236 + Missense_Mutation SNP C C A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 12 21711236 21711236 C A SNP GYS2 ENST00000261195 human ensembl 70_37 -1 known missense c.1320 p.L440F 0.901 pfam_Glycogen_synth pfam_Glycogen_synth,pfam_Glyco_trans_1 - no_errors GYS2 HGNC IMPG2 50939 genome.wustl.edu 37 3 100964803 100964803 + Missense_Mutation SNP G G T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 3 100964803 100964803 G T SNP IMPG2 ENST00000193391 human ensembl 70_37 -1 known missense c.1386 p.H462Q 0.000 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors IMPG2 HGNC KCNA6 3742 genome.wustl.edu 37 12 4919236 4919236 + Missense_Mutation SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 12 4919236 4919236 C T SNP KCNA6 ENST00000280684 human ensembl 70_37 +1 known missense c.29 p.A10V 1.000 prints_K_chnl_volt-dep_Kv1.6 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA6 HGNC KRAS 3845 genome.wustl.edu 37 12 25398257 25398257 + Missense_Mutation SNP A A C TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 12 25398257 25398257 A C SNP KRAS ENST00000256078 human ensembl 70_37 -1 known missense c.62 p.I21R 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC LIMK2 3985 genome.wustl.edu 37 22 31664175 31664175 + Missense_Mutation SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 22 31664175 31664175 G A SNP LIMK2 ENST00000331728 human ensembl 70_37 +1 known missense c.1306 p.A436T 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK2 HGNC LOC728741 728741 genome.wustl.edu 37 16 28354457 28354457 + Missense_Mutation SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 16 28354457 28354457 G A SNP LOC728741 ENST00000532254 human ensembl 70_37 -1 novel missense c.749 p.P250L 0.047 pfam_NPIP pfam_NPIP - no_errors A-575C2.4 Uniprot_genename LOC728888 728888 genome.wustl.edu 37 16 21858734 21858734 + Missense_Mutation SNP C C A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 16 21858734 21858734 C A SNP LOC728888 ENST00000415645 human ensembl 70_37 -1 known missense c.249 p.W83C 0.018 pfam_NPIP pfam_NPIP - no_errors 61E3.4 Uniprot_genename LRP5 4041 genome.wustl.edu 37 11 68207255 68207255 + Silent SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 11 68207255 68207255 C T SNP LRP5 ENST00000294304 human ensembl 70_37 +1 known silent c.4359 p.C1453 0.121 pirsf_Low_density_Lipo_rcpt-rel_p5/6 pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC LRRC9 341883 genome.wustl.edu 37 14 60411327 60411327 + Missense_Mutation SNP A A G TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 14 60411327 60411327 A G SNP LRRC9 ENST00000254271 human ensembl 70_37 +1 known missense c.747 p.I249M 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC9 HGNC MEFV 4210 genome.wustl.edu 37 16 3297128 3297128 + Missense_Mutation SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 16 3297128 3297128 C T SNP MEFV ENST00000219596 human ensembl 70_37 -1 known missense c.1475 p.G492E 0.000 NULL pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC MKL2 57496 genome.wustl.edu 37 16 14341226 14341226 + Missense_Mutation SNP G G T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 16 14341226 14341226 G T SNP MKL2 ENST00000341243 human ensembl 70_37 +1 known missense c.2076 p.Q692H 1.000 NULL pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd - no_errors MKL2 HGNC MTMR10 54893 genome.wustl.edu 37 15 31239429 31239429 + Silent SNP G G T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 15 31239429 31239429 G T SNP MTMR10 ENST00000435680 human ensembl 70_37 -1 known silent c.1452 p.S484 0.000 NULL pfam_Myotubularin_assoc,pfam_Myotub-related - no_errors MTMR10 HGNC MUC12 10071 genome.wustl.edu 37 7 100643155 100643155 + Missense_Mutation SNP A A T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 7 100643155 100643155 A T SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known missense c.9740 p.K3247I 0.000 NULL pfam_SEA - no_errors MUC12 HGNC MYCBP2 23077 genome.wustl.edu 37 13 77677374 77677374 + RNA SNP C C A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 13 77677374 77677374 C A SNP MYCBP2 ENST00000462987 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MYCBP2 HGNC NLGN4X 57502 genome.wustl.edu 37 X 5821413 5821413 + Missense_Mutation SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 X 5821413 5821413 G A SNP NLGN4X ENST00000381093 human ensembl 70_37 -1 known missense c.1366 p.R456W 0.278 pfam_CarbesteraseB,prints_Neuroligin pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC OR13A1 79290 genome.wustl.edu 37 10 45799325 45799325 + Silent SNP C C A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 10 45799325 45799325 C A SNP OR13A1 ENST00000374401 human ensembl 70_37 -1 known silent c.546 p.L182 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13A1 HGNC OTUD5 55593 genome.wustl.edu 37 X 48801543 48801543 + Missense_Mutation SNP T T C TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 X 48801543 48801543 T C SNP OTUD5 ENST00000156084 human ensembl 70_37 -1 known missense c.596 p.Q199R 1.000 NULL pfam_OTU,pfscan_OTU - no_errors OTUD5 HGNC PCDH15 65217 genome.wustl.edu 37 10 55568613 55568613 + Nonsense_Mutation SNP C C A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 10 55568613 55568613 C A SNP PCDH15 ENST00000395445 human ensembl 70_37 -1 novel nonsense c.5197 p.E1733* 0.161 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDH15 HGNC PFKFB1 5207 genome.wustl.edu 37 X 54985325 54985325 + Missense_Mutation SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 X 54985325 54985325 G A SNP PFKFB1 ENST00000375006 human ensembl 70_37 -1 known missense c.418 p.R140W 0.936 pfam_6Phosfructo_kin,pfam_Zeta_toxin_domain,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Zeta_toxin_domain,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB1 HGNC PIK3CA 5290 genome.wustl.edu 37 3 178916726 178916726 + Missense_Mutation SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 3 178916726 178916726 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.113 p.R38H 1.000 pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC PKHD1 5314 genome.wustl.edu 37 6 51619602 51619602 + Missense_Mutation SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 6 51619602 51619602 C T SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known missense c.8777 p.R2926Q 0.402 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC PLD1 5337 genome.wustl.edu 37 3 171427491 171427491 + Missense_Mutation SNP A A G TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 3 171427491 171427491 A G SNP PLD1 ENST00000351298 human ensembl 70_37 -1 known missense c.920 p.I307T 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC PLXNB2 23654 genome.wustl.edu 37 22 50719367 50719367 + Missense_Mutation SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 22 50719367 50719367 C T SNP PLXNB2 ENST00000359337 human ensembl 70_37 -1 known missense c.3799 p.V1267M 0.999 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB2 HGNC POLA1 5422 genome.wustl.edu 37 X 24745188 24745188 + Missense_Mutation SNP C C G TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 X 24745188 24745188 C G SNP POLA1 ENST00000379068 human ensembl 70_37 +1 known missense c.1531 p.Q511E 1.000 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,tigrfam_DNA-dir_DNA_pol_B_pol2 pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLA1 HGNC PPFIA3 8541 genome.wustl.edu 37 19 49632647 49632647 + Missense_Mutation SNP G G T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 19 49632647 49632647 G T SNP PPFIA3 ENST00000334186 human ensembl 70_37 +1 known missense c.518 p.R173L 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC PPIAL4G 644591 genome.wustl.edu 37 1 143767596 143767596 + Missense_Mutation SNP C C A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 1 143767596 143767596 C A SNP PPIAL4G ENST00000419275 human ensembl 70_37 -1 known missense c.253 p.D85Y 0.997 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIAL4G HGNC PPIP5K2 23262 genome.wustl.edu 37 5 102490374 102490375 + Frame_Shift_Ins INS - - T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 5 102490374 102490375 - T INS PPIP5K2 ENST00000358359 human ensembl 70_37 +1 known frame_shift_ins c.1218_1219 p.D408fs 0.992:1.000 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors PPIP5K2 HGNC PRR5L 79899 genome.wustl.edu 37 11 36476882 36476882 + RNA SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 11 36476882 36476882 G A SNP PRR5L ENST00000530627 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PRR5L HGNC PTEN 5728 genome.wustl.edu 37 10 89690847 89690847 + Splice_Site SNP G G T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 10 89690847 89690847 G T SNP PTEN ENST00000371953 human ensembl 70_37 +1 known splice_site c.253+1 e4+1 1.000 - - - no_errors PTEN HGNC PTPN4 5775 genome.wustl.edu 37 2 120725438 120725438 + Missense_Mutation SNP C C A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 2 120725438 120725438 C A SNP PTPN4 ENST00000263708 human ensembl 70_37 +1 known missense c.2584 p.L862I 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN4 HGNC PTPRC 5788 genome.wustl.edu 37 1 198721850 198721850 + Missense_Mutation SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 1 198721850 198721850 C T SNP PTPRC ENST00000442510 human ensembl 70_37 +1 known missense c.3458 p.S1153F 0.000 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC RASGRP2 10235 genome.wustl.edu 37 11 64496388 64496388 + Missense_Mutation SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 11 64496388 64496388 C T SNP RASGRP2 ENST00000377494 human ensembl 70_37 -1 known missense c.1718 p.R573H 0.883 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRP2 HGNC RERGL 79785 genome.wustl.edu 37 12 18234322 18234322 + Missense_Mutation SNP G G T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 12 18234322 18234322 G T SNP RERGL ENST00000229002 human ensembl 70_37 -1 known missense c.421 p.L141M 0.996 pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type - no_errors RERGL HGNC SCARA5 286133 genome.wustl.edu 37 8 27737165 27737165 + Silent SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 8 27737165 27737165 C T SNP SCARA5 ENST00000354914 human ensembl 70_37 -1 known silent c.1272 p.K424 1.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors SCARA5 HGNC SF3B3 23450 genome.wustl.edu 37 16 70597901 70597901 + Missense_Mutation SNP A A G TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 16 70597901 70597901 A G SNP SF3B3 ENST00000302516 human ensembl 70_37 +1 known missense c.2411 p.H804R 1.000 superfamily_WD40_repeat_dom pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC SGSM3 27352 genome.wustl.edu 37 22 40800404 40800404 + Missense_Mutation SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 22 40800404 40800404 C T SNP SGSM3 ENST00000248929 human ensembl 70_37 +1 known missense c.311 p.S104F 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_Rab-GTPase-TBC_dom,superfamily_SH3_domain,smart_Rab-GTPase-TBC_dom,smart_SH3_domain,smart_Run,pfscan_Run,pfscan_SH3_domain,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM3 HGNC SNHG14 0 genome.wustl.edu 37 15 25446309 25446309 + RNA SNP T T C TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 15 25446309 25446309 T C SNP SNHG14 ENST00000424208 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC SPOP 8405 genome.wustl.edu 37 17 47696599 47696599 + Missense_Mutation SNP T T C TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 17 47696599 47696599 T C SNP SPOP ENST00000347630 human ensembl 70_37 -1 known missense c.349 p.M117V 1.000 pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH - no_errors SPOP HGNC SVOPL 136306 genome.wustl.edu 37 7 138279227 138279228 + RNA INS - - A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 7 138279227 138279228 - A INS SVOPL ENST00000463557 human ensembl 70_37 -1 known rna NULL NULL 0.002:0.000 - - - no_errors SVOPL HGNC SYNE1 23345 genome.wustl.edu 37 6 152738082 152738082 + Missense_Mutation SNP C C A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 6 152738082 152738082 C A SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.5490 p.L1830F 0.827 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC TAB3 257397 genome.wustl.edu 37 X 30870896 30870896 + Missense_Mutation SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 X 30870896 30870896 G A SNP TAB3 ENST00000288422 human ensembl 70_37 -1 known missense c.1709 p.T570M 0.997 NULL pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB3 HGNC TENM4 26011 genome.wustl.edu 37 11 78601032 78601032 + Silent SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 11 78601032 78601032 C T SNP TENM4 ENST00000278550 human ensembl 70_37 -1 known silent c.882 p.P294 0.004 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC TPSAB1 7177 genome.wustl.edu 37 16 1291685 1291685 + Missense_Mutation SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 16 1291685 1291685 G A SNP TPSAB1 ENST00000562675 human ensembl 70_37 +1 known missense c.484 p.D162N 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TPSAB1 HGNC TRRAP 8295 genome.wustl.edu 37 7 98581869 98581869 + Missense_Mutation SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 7 98581869 98581869 G A SNP TRRAP ENST00000359863 human ensembl 70_37 +1 known missense c.9188 p.R3063Q 1.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC USH2A 7399 genome.wustl.edu 37 1 215901724 215901724 + Missense_Mutation SNP C C T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 1 215901724 215901724 C T SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.11714 p.R3905H 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ZBTB47 92999 genome.wustl.edu 37 3 42700448 42700448 + Missense_Mutation SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 3 42700448 42700448 G A SNP ZBTB47 ENST00000232974 human ensembl 70_37 +1 known missense c.601 p.G201S 0.004 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB47 HGNC ZDHHC11B 653082 genome.wustl.edu 37 5 711974 711974 + RNA SNP T T A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 5 711974 711974 T A SNP ZDHHC11B ENST00000522356 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZDHHC11B HGNC ZEB2 9839 genome.wustl.edu 37 2 145157710 145157710 + Frame_Shift_Del DEL G G - TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 2 145157710 145157710 G - DEL ZEB2 ENST00000303660 human ensembl 70_37 -1 known frame_shift_del c.1044 p.K349fs 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ZNF518A 9849 genome.wustl.edu 37 10 97918540 97918540 + RNA SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 10 97918540 97918540 G A SNP ZNF518A ENST00000316045 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors ZNF518A HGNC ZNF720 124411 genome.wustl.edu 37 16 31766511 31766511 + Missense_Mutation SNP G G T TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 16 31766511 31766511 G T SNP ZNF720 ENST00000399681 human ensembl 70_37 +1 known missense c.899 p.R300I 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF720 HGNC ZNF729 100287226 genome.wustl.edu 37 19 22499442 22499442 + Missense_Mutation SNP C C G TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 19 22499442 22499442 C G SNP ZNF729 ENST00000601693 human ensembl 70_37 +1 novel missense c.3223 p.P1075A 0.994 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF729 HGNC ZNF733P 643955 genome.wustl.edu 37 7 62752415 62752416 + RNA INS - - C TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f832ad5-ec72-488b-b55b-1659b733f490 8b53735f-6dfe-4771-82ed-13bd7cae1746 7 62752415 62752416 - C INS ZNF733P ENST00000331425 human ensembl 70_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors ZNF733P HGNC