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 ACTN4 81 genome.wustl.edu 37 19 39219710 39219710 + Silent SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 19 39219710 39219710 C T SNP ACTN4 ENST00000252699 human ensembl 70_37 +1 known silent c.2493 p.F831 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN4 HGNC AFF2 2334 genome.wustl.edu 37 X 147733596 147733596 + Missense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 X 147733596 147733596 G A SNP AFF2 ENST00000370460 human ensembl 70_37 +1 known missense c.124 p.D42N 0.998 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC AKR1D1 6718 genome.wustl.edu 37 7 137761304 137761304 + Missense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 7 137761304 137761304 G A SNP AKR1D1 ENST00000242375 human ensembl 70_37 +1 known missense c.40 p.D14N 0.993 superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1D1 HGNC AKT1 207 genome.wustl.edu 37 14 105246551 105246551 + Missense_Mutation SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 14 105246551 105246551 C T SNP AKT1 ENST00000349310 human ensembl 70_37 -1 known missense c.49 p.E17K 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom - no_errors AKT1 HGNC AP2A1 160 genome.wustl.edu 37 19 50308784 50308784 + Missense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 19 50308784 50308784 G A SNP AP2A1 ENST00000354293 human ensembl 70_37 +1 known missense c.2419 p.E807K 1.000 pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A1 HGNC AP3B1 8546 genome.wustl.edu 37 5 77338708 77338708 + RNA SNP G G C TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 5 77338708 77338708 G C SNP AP3B1 ENST00000523204 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AP3B1 HGNC AQP5 362 genome.wustl.edu 37 12 50356026 50356026 + Missense_Mutation SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 12 50356026 50356026 C T SNP AQP5 ENST00000293599 human ensembl 70_37 +1 known missense c.226 p.L76F 0.870 pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_5,tigrfam_MIP - no_errors AQP5 HGNC ARL8B 55207 genome.wustl.edu 37 3 5220573 5220573 + RNA SNP C C G TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 3 5220573 5220573 C G SNP ARL8B ENST00000468010 human ensembl 70_37 +1 known rna NULL NULL 0.992 - - - no_errors ARL8B HGNC ASB2 51676 genome.wustl.edu 37 14 94420704 94420704 + Missense_Mutation SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 14 94420704 94420704 G T SNP ASB2 ENST00000315988 human ensembl 70_37 -1 known missense c.293 p.A98E 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB2 HGNC ATP7B 540 genome.wustl.edu 37 13 52511638 52511638 + Nonsense_Mutation SNP C C A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 13 52511638 52511638 C A SNP ATP7B ENST00000242839 human ensembl 70_37 -1 known nonsense c.3877 p.E1293* 1.000 pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ATP8B4 79895 genome.wustl.edu 37 15 50264898 50264898 + Missense_Mutation SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 15 50264898 50264898 C T SNP ATP8B4 ENST00000284509 human ensembl 70_37 -1 known missense c.1124 p.R375Q 1.000 tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,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 ATP8B4 HGNC ATXN2 6311 genome.wustl.edu 37 12 111908476 111908476 + Silent SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 12 111908476 111908476 C T SNP ATXN2 ENST00000377617 human ensembl 70_37 -1 known silent c.3069 p.A1023 0.964 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2 HGNC BTK 695 genome.wustl.edu 37 X 100613645 100613645 + Missense_Mutation SNP C C A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 X 100613645 100613645 C A SNP BTK ENST00000308731 human ensembl 70_37 -1 known missense c.934 p.A312S 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif - no_errors BTK HGNC BVES 11149 genome.wustl.edu 37 6 105563703 105563703 + Splice_Site SNP C C A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 6 105563703 105563703 C A SNP BVES ENST00000314641 human ensembl 70_37 -1 known splice_site c.817-1 e6-1 1.000 - - - no_errors BVES HGNC C1QTNF5 114902 genome.wustl.edu 37 11 119209986 119209986 + RNA SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 11 119209986 119209986 C T SNP C1QTNF5 ENST00000525657 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors C1QTNF5 HGNC CCDC114 93233 genome.wustl.edu 37 19 48814881 48814881 + Missense_Mutation SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 19 48814881 48814881 G T SNP CCDC114 ENST00000315396 human ensembl 70_37 -1 known missense c.415 p.L139M 0.893 NULL NULL - no_errors CCDC114 HGNC CCDC153 283152 genome.wustl.edu 37 11 119061433 119061433 + Missense_Mutation SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 11 119061433 119061433 C T SNP CCDC153 ENST00000415318 human ensembl 70_37 -1 known missense c.466 p.E156K 0.952 superfamily_t-SNARE superfamily_t-SNARE - no_errors CCDC153 HGNC CCDC40 55036 genome.wustl.edu 37 17 78024013 78024013 + Missense_Mutation SNP G G C TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 17 78024013 78024013 G C SNP CCDC40 ENST00000397545 human ensembl 70_37 +1 known missense c.1090 p.E364Q 1.000 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC CEACAM1 634 genome.wustl.edu 37 19 43023356 43023356 + Silent SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 19 43023356 43023356 G A SNP CEACAM1 ENST00000161559 human ensembl 70_37 -1 known silent c.990 p.I330 0.013 pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CEACAM1 HGNC CNTLN 54875 genome.wustl.edu 37 9 17487056 17487056 + Missense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 9 17487056 17487056 G A SNP CNTLN ENST00000380647 human ensembl 70_37 +1 known missense c.4111 p.E1371K 0.999 NULL superfamily_Prefoldin - no_errors CNTLN HGNC CNTN6 27255 genome.wustl.edu 37 3 1415661 1415661 + Missense_Mutation SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 3 1415661 1415661 C T SNP CNTN6 ENST00000350110 human ensembl 70_37 +1 known missense c.1999 p.P667S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN6 HGNC COL19A1 1310 genome.wustl.edu 37 6 70916910 70916910 + Nonsense_Mutation SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 6 70916910 70916910 G T SNP COL19A1 ENST00000322773 human ensembl 70_37 +1 known nonsense c.3361 p.G1121* 1.000 NULL pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC CYP26A1 1592 genome.wustl.edu 37 10 94834932 94834932 + Silent SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 10 94834932 94834932 C T SNP CYP26A1 ENST00000224356 human ensembl 70_37 +1 known silent c.732 p.H244 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP26A1 HGNC DDX21 9188 genome.wustl.edu 37 10 70719876 70719876 + Silent SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 10 70719876 70719876 G A SNP DDX21 ENST00000354185 human ensembl 70_37 +1 known silent c.402 p.K134 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX21 HGNC DNAH1 25981 genome.wustl.edu 37 3 52384120 52384120 + Missense_Mutation SNP T T C TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 3 52384120 52384120 T C SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known missense c.2642 p.L881P 0.919 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC DNAH1 25981 genome.wustl.edu 37 3 52391686 52391686 + Missense_Mutation SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 3 52391686 52391686 G T SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known missense c.3915 p.K1305N 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC DNAH6 1768 genome.wustl.edu 37 2 84756217 84756217 + Missense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 2 84756217 84756217 G A SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known missense c.589 p.E197K 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC DSCAML1 57453 genome.wustl.edu 37 11 117667944 117667944 + Missense_Mutation SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 11 117667944 117667944 C T SNP DSCAML1 ENST00000321322 human ensembl 70_37 -1 known missense c.31 p.E11K 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAML1 HGNC DYNC2H1 79659 genome.wustl.edu 37 11 103116084 103116084 + Silent SNP A A G TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 11 103116084 103116084 A G SNP DYNC2H1 ENST00000398093 human ensembl 70_37 +1 known silent c.10044 p.R3348 1.000 NULL 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 55242423 55242423 + Nonsense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 7 55242423 55242423 G A SNP EGFR ENST00000275493 human ensembl 70_37 +1 known nonsense c.2193 p.W731* 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_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 ENSG00000221741 0 genome.wustl.edu 37 5 167297560 167297561 + RNA DEL AT AT - TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 5 167297560 167297561 AT - DEL ENSG00000221741 ENST00000408814 human ensembl 70_37 -1 novel rna NULL NULL 0.001:0.001 - - - no_errors AC093304.1 Clone_based_ensembl_gene ENSG00000236358 0 genome.wustl.edu 37 1 234492770 234492770 + RNA SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 1 234492770 234492770 G A SNP ENSG00000236358 ENST00000425104 human ensembl 70_37 +1 putative rna NULL NULL 0.995 - - - no_errors RP5-827C21.2 Clone_based_vega_gene ENSG00000248343 0 genome.wustl.edu 37 4 21699107 21699109 + RNA DEL AAT AAT - TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 AAT AAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 4 21699107 21699109 AAT - DEL ENSG00000248343 ENST00000511835 human ensembl 70_37 +1 known rna NULL NULL 1.000:0.976:0.554 - - - no_errors RP11-556G22.2 Clone_based_vega_gene ENSG00000250784 0 genome.wustl.edu 37 1 155109218 155109219 + RNA INS - - A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 1 155109218 155109219 - A INS ENSG00000250784 ENST00000506037 human ensembl 70_37 +1 known rna NULL NULL 0.083:0.075 - - - no_errors RP11-540D14.6 Clone_based_vega_gene ENSG00000250784 0 genome.wustl.edu 37 1 155109219 155109219 + RNA DEL A A - TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 1 155109219 155109219 A - DEL ENSG00000250784 ENST00000506037 human ensembl 70_37 +1 known rna NULL NULL 0.075 - - - no_errors RP11-540D14.6 Clone_based_vega_gene ENSG00000258851 0 genome.wustl.edu 37 14 104028196 104028197 + RNA INS - - A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 14 104028196 104028197 - A INS ENSG00000258851 ENST00000556332 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.004 - - - no_errors RP11-894P9.2 Clone_based_vega_gene ENSG00000259180 0 genome.wustl.edu 37 15 55972660 55972661 + RNA INS - - T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 15 55972660 55972661 - T INS ENSG00000259180 ENST00000561155 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-420M1.2 Clone_based_vega_gene ENSG00000259648 0 genome.wustl.edu 37 14 68082933 68082934 + RNA INS - - T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 14 68082933 68082934 - T INS ENSG00000259648 ENST00000559968 human ensembl 70_37 +1 known rna NULL NULL 0.998:0.999 - - - no_errors RP11-643G16.4 Clone_based_vega_gene ENTPD4 9583 genome.wustl.edu 37 8 23292045 23292046 + RNA DEL CA CA - TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 8 23292045 23292046 CA - DEL ENTPD4 ENST00000522913 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ENTPD4 HGNC ESPNP 284729 genome.wustl.edu 37 1 17023034 17023034 + RNA SNP G G C TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 1 17023034 17023034 G C SNP ESPNP ENST00000492551 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ESPNP HGNC FAM198A 729085 genome.wustl.edu 37 3 43074889 43074889 + Silent SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 3 43074889 43074889 G A SNP FAM198A ENST00000273146 human ensembl 70_37 +1 known silent c.1134 p.L378 0.737 NULL NULL - no_errors FAM198A HGNC FAM27L 284123 genome.wustl.edu 37 17 21825355 21825355 + RNA SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 17 21825355 21825355 C T SNP FAM27L ENST00000426869 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors FAM27L HGNC FAM46B 115572 genome.wustl.edu 37 1 27332618 27332618 + Silent SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 1 27332618 27332618 C T SNP FAM46B ENST00000289166 human ensembl 70_37 -1 known silent c.1095 p.T365 0.006 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46B HGNC FAT2 2196 genome.wustl.edu 37 5 150889679 150889679 + Missense_Mutation SNP C C G TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 5 150889679 150889679 C G SNP FAT2 ENST00000261800 human ensembl 70_37 -1 known missense c.11962 p.E3988Q 0.104 smart_EGF-like_Ca-bd,pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC FCHO1 23149 genome.wustl.edu 37 19 17885254 17885254 + Missense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 19 17885254 17885254 G A SNP FCHO1 ENST00000252771 human ensembl 70_37 +1 known missense c.887 p.R296Q 1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_FCH,superfamily_Clathrin_mu_C,smart_FCH,pfscan_FCH - no_errors FCHO1 HGNC GATA2 2624 genome.wustl.edu 37 3 128199829 128199829 + RNA SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 3 128199829 128199829 G A SNP GATA2 ENST00000489987 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors GATA2 HGNC GBP5 115362 genome.wustl.edu 37 1 89735176 89735176 + Silent SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 1 89735176 89735176 C T SNP GBP5 ENST00000343435 human ensembl 70_37 -1 known silent c.63 p.L21 0.000 pfam_Guanylate-bd_N pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors GBP5 HGNC GPR113 165082 genome.wustl.edu 37 2 26534373 26534373 + Silent SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 2 26534373 26534373 G T SNP GPR113 ENST00000333478 human ensembl 70_37 -1 known silent c.1626 p.A542 0.000 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR113 HGNC GRM1 2911 genome.wustl.edu 37 6 146755620 146755620 + Silent SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 6 146755620 146755620 C T SNP GRM1 ENST00000282753 human ensembl 70_37 +1 known silent c.3273 p.S1091 0.645 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC GRM8 2918 genome.wustl.edu 37 7 126249491 126249491 + Missense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 7 126249491 126249491 G A SNP GRM8 ENST00000341617 human ensembl 70_37 -1 known missense c.1490 p.S497F 1.000 NULL pfam_ANF_lig-bd_rcpt,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM8 HGNC GTF2IRD2P1 401375 genome.wustl.edu 37 7 72664015 72664016 + RNA INS - - G TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 7 72664015 72664016 - G INS GTF2IRD2P1 ENST00000425256 human ensembl 70_37 -1 known rna NULL NULL 0.912:0.964 - - - no_errors GTF2IRD2P1 HGNC GTSE1 51512 genome.wustl.edu 37 22 46725458 46725458 + Silent SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 22 46725458 46725458 G T SNP GTSE1 ENST00000454366 human ensembl 70_37 +1 known silent c.2130 p.V710 0.058 NULL NULL - no_errors GTSE1 HGNC HAAO 23498 genome.wustl.edu 37 2 42997641 42997641 + Missense_Mutation SNP G G C TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 2 42997641 42997641 G C SNP HAAO ENST00000294973 human ensembl 70_37 -1 known missense c.432 p.I144M 1.000 pfam_3hydroanth_dOase,superfamily_RmlC_Cupin,pirsf_3hydroanth_dOase_met,tigrfam_3hydroanth_dOase pfam_3hydroanth_dOase,pfam_Cupin_2,superfamily_RmlC_Cupin,pirsf_3hydroanth_dOase_met,tigrfam_3hydroanth_dOase - no_errors HAAO HGNC HARS2 23438 genome.wustl.edu 37 5 140077661 140077661 + Missense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 5 140077661 140077661 G A SNP HARS2 ENST00000230771 human ensembl 70_37 +1 known missense c.1459 p.E487K 1.000 pfam_Anticodon-bd,superfamily_Anticodon-bd,pirsf_HisRS/HisZ,tigrfam_His-tRNA-ligase pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,superfamily_Anticodon-bd,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,tigrfam_His-tRNA-ligase - no_errors HARS2 HGNC HIRA 7290 genome.wustl.edu 37 22 19373227 19373227 + Missense_Mutation SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 22 19373227 19373227 G T SNP HIRA ENST00000263208 human ensembl 70_37 -1 known missense c.1146 p.S382R 1.000 NULL pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors HIRA HGNC HIVEP1 3096 genome.wustl.edu 37 6 12122774 12122774 + Nonsense_Mutation SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 6 12122774 12122774 G T SNP HIVEP1 ENST00000379388 human ensembl 70_37 +1 known nonsense c.2746 p.G916* 0.159 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC HNRNPKP3 399881 genome.wustl.edu 37 11 43284422 43284422 + RNA SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 11 43284422 43284422 G T SNP HNRNPKP3 ENST00000511537 human ensembl 70_37 -1 known rna NULL NULL 0.995 - - - no_errors HNRNPKP3 HGNC INHBE 83729 genome.wustl.edu 37 12 57850050 57850050 + Missense_Mutation SNP C C A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 12 57850050 57850050 C A SNP INHBE ENST00000266646 human ensembl 70_37 +1 known missense c.472 p.L158M 0.977 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC,prints_Inhibin_asu - no_errors INHBE HGNC KCNH8 131096 genome.wustl.edu 37 3 19554568 19554568 + Missense_Mutation SNP C C A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 3 19554568 19554568 C A SNP KCNH8 ENST00000328405 human ensembl 70_37 +1 known missense c.2186 p.P729H 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH8 HGNC KIF23 9493 genome.wustl.edu 37 15 69732248 69732248 + Silent SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 15 69732248 69732248 G A SNP KIF23 ENST00000260363 human ensembl 70_37 +1 known silent c.1719 p.E573 0.999 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF23 HGNC KLC2 64837 genome.wustl.edu 37 11 66029354 66029354 + Missense_Mutation SNP G G C TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 11 66029354 66029354 G C SNP KLC2 ENST00000316924 human ensembl 70_37 +1 known missense c.370 p.E124Q 1.000 pfam_Rabaptin_Rab5-bd_dom pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC2 HGNC KRT84 3890 genome.wustl.edu 37 12 52778996 52778996 + Missense_Mutation SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 12 52778996 52778996 C T SNP KRT84 ENST00000257951 human ensembl 70_37 -1 known missense c.374 p.R125K 0.892 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT84 HGNC LATS1 9113 genome.wustl.edu 37 6 150005408 150005408 + Nonsense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 6 150005408 150005408 G A SNP LATS1 ENST00000253339 human ensembl 70_37 -1 known nonsense c.817 p.Q273* 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors LATS1 HGNC LOC100128164 100128164 genome.wustl.edu 37 3 169684476 169684476 + RNA SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 3 169684476 169684476 C T SNP LOC100128164 ENST00000469301 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-379K17.4 Clone_based_vega_gene LOC100996870 100996870 genome.wustl.edu 37 9 66466327 66466327 + RNA DEL G G - TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 9 66466327 66466327 G - DEL LOC100996870 ENST00000424345 human ensembl 70_37 +1 known rna NULL NULL 0.090 - - - no_errors RP11-262H14.1 Clone_based_vega_gene LRP2 4036 genome.wustl.edu 37 2 170068628 170068628 + Missense_Mutation SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 2 170068628 170068628 C T SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known missense c.6130 p.A2044T 1.000 smart_EGF-like_Ca-bd,smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC LSAMP 4045 genome.wustl.edu 37 3 115560788 115560788 + Missense_Mutation SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 3 115560788 115560788 G T SNP LSAMP ENST00000490035 human ensembl 70_37 -1 known missense c.823 p.L275M 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LSAMP HGNC MACF1 23499 genome.wustl.edu 37 1 39844931 39844931 + Missense_Mutation SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 1 39844931 39844931 G T SNP MACF1 ENST00000317713 human ensembl 70_37 +1 known missense c.7147 p.G2383W 1.000 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC MAP2 4133 genome.wustl.edu 37 2 210559516 210559516 + Missense_Mutation SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 2 210559516 210559516 G T SNP MAP2 ENST00000360351 human ensembl 70_37 +1 known missense c.2622 p.K874N 0.988 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC MAPKAPK2 9261 genome.wustl.edu 37 1 206904645 206904646 + RNA DEL GT GT - TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 1 206904645 206904646 GT - DEL MAPKAPK2 ENST00000479009 human ensembl 70_37 +1 putative rna NULL NULL 0.000:0.000 - - - no_errors MAPKAPK2 HGNC MCM5 4174 genome.wustl.edu 37 22 35804402 35804402 + Missense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 22 35804402 35804402 G A SNP MCM5 ENST00000216122 human ensembl 70_37 +1 known missense c.598 p.D200N 1.000 superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_5,prints_MCM_DNA-dep_ATPase - no_errors MCM5 HGNC MCOLN1 57192 genome.wustl.edu 37 19 7595354 7595354 + Silent SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 19 7595354 7595354 C T SNP MCOLN1 ENST00000264079 human ensembl 70_37 +1 known silent c.1542 p.I514 0.988 pfam_PKD1_2_channel pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF - no_errors MCOLN1 HGNC MED8 112950 genome.wustl.edu 37 1 43853286 43853286 + Missense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 1 43853286 43853286 G A SNP MED8 ENST00000290663 human ensembl 70_37 -1 known missense c.158 p.S53F 1.000 pfam_Mediatior_Med8_fun/met pfam_Mediatior_Med8_fun/met - no_errors MED8 HGNC MIXL1 83881 genome.wustl.edu 37 1 226413277 226413277 + Missense_Mutation SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 1 226413277 226413277 C T SNP MIXL1 ENST00000366810 human ensembl 70_37 +1 known missense c.463 p.P155S 0.010 superfamily_Homeodomain-like pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors MIXL1 HGNC KMT2D 8085 genome.wustl.edu 37 12 49420007 49420007 + Nonsense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 12 49420007 49420007 G A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known nonsense c.15742 p.Q5248* 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_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC MOSPD2 158747 genome.wustl.edu 37 X 14934348 14934348 + Silent SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 X 14934348 14934348 C T SNP MOSPD2 ENST00000380492 human ensembl 70_37 +1 known silent c.1216 p.L406 1.000 pfam_Major_sperm,superfamily_PapD-like,pfscan_Major_sperm pfam_CRAL-TRIO_dom,pfam_Major_sperm,superfamily_CRAL-TRIO_dom,superfamily_PapD-like,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_Major_sperm - no_errors MOSPD2 HGNC MTSS1L 92154 genome.wustl.edu 37 16 70697638 70697638 + Missense_Mutation SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 16 70697638 70697638 C T SNP MTSS1L ENST00000338779 human ensembl 70_37 -1 known missense c.2186 p.R729H 0.966 NULL pfam_IRSp53/MIM_homology_IMD - no_errors MTSS1L HGNC MUC19 283463 genome.wustl.edu 37 12 40925086 40925086 + RNA SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 12 40925086 40925086 C T SNP MUC19 ENST00000474954 human ensembl 70_37 +1 known rna NULL NULL 0.019 - - - no_errors MUC19 HGNC MUC2 4583 genome.wustl.edu 37 11 1090951 1090952 + In_Frame_Ins INS - - ACC TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 11 1090951 1090952 - ACC INS MUC2 ENST00000441003 human ensembl 70_37 +1 known in_frame_ins c.3846_3847 p.1286in_frame_insT 0.000:0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC MYCN 4613 genome.wustl.edu 37 2 16086128 16086128 + Missense_Mutation SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 2 16086128 16086128 C T SNP MYCN ENST00000281043 human ensembl 70_37 +1 known missense c.1304 p.A435V 0.995 superfamily_HLH_dom,smart_HLH_dom pfam_Tscrpt_reg_Myc_N,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom,prints_Tscrpt_reg_Myc - no_errors MYCN HGNC MYLK-AS1 100506826 genome.wustl.edu 37 3 123348514 123348514 + RNA SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 3 123348514 123348514 G T SNP MYLK-AS1 ENST00000463408 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MYLK-AS1 HGNC NAA40 79829 genome.wustl.edu 37 11 63721865 63721865 + Missense_Mutation SNP T T C TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 11 63721865 63721865 T C SNP NAA40 ENST00000377793 human ensembl 70_37 +1 known missense c.628 p.S210P 1.000 pfscan_GNAT_dom pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA40 HGNC NBEA 26960 genome.wustl.edu 37 13 35692417 35692417 + Missense_Mutation SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 13 35692417 35692417 C T SNP NBEA ENST00000310336 human ensembl 70_37 +1 known missense c.2135 p.T712M 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC NEMF 9147 genome.wustl.edu 37 14 50287076 50287076 + RNA SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 14 50287076 50287076 C T SNP NEMF ENST00000555878 human ensembl 70_37 -1 known rna NULL NULL 0.296 - - - no_errors NEMF HGNC NOL9 79707 genome.wustl.edu 37 1 6586866 6586866 + Missense_Mutation SNP C C G TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 1 6586866 6586866 C G SNP NOL9 ENST00000377705 human ensembl 70_37 -1 known missense c.1849 p.E617Q 1.000 pfam_Pre-mRNA_cleavage_cplxII_Clp1 pfam_Pre-mRNA_cleavage_cplxII_Clp1 - no_errors NOL9 HGNC OR4D6 219983 genome.wustl.edu 37 11 59225108 59225108 + Silent SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 11 59225108 59225108 G A SNP OR4D6 ENST00000300127 human ensembl 70_37 +1 known silent c.675 p.L225 0.007 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D6 HGNC OR5AR1 219493 genome.wustl.edu 37 11 56432011 56432011 + Missense_Mutation SNP A A G TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 11 56432011 56432011 A G SNP OR5AR1 ENST00000302969 human ensembl 70_37 +1 known missense c.850 p.M284V 0.124 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AR1 HGNC OSTCP1 202459 genome.wustl.edu 37 6 159263077 159263077 + RNA SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 6 159263077 159263077 G T SNP OSTCP1 ENST00000522287 human ensembl 70_37 -1 known rna NULL NULL 0.992 - - - no_errors OSTCP1 HGNC PCDHGB1 56104 genome.wustl.edu 37 5 140730212 140730212 + Missense_Mutation SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 5 140730212 140730212 C T SNP PCDHGB1 ENST00000523390 human ensembl 70_37 +1 known missense c.385 p.R129C 0.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC PCNT 5116 genome.wustl.edu 37 21 47845794 47845794 + Nonsense_Mutation SNP C C G TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 21 47845794 47845794 C G SNP PCNT ENST00000359568 human ensembl 70_37 +1 known nonsense c.7229 p.S2410* 0.920 NULL pfam_PACT_domain - no_errors PCNT HGNC PLXNA4 91584 genome.wustl.edu 37 7 131913203 131913203 + Missense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 7 131913203 131913203 G A SNP PLXNA4 ENST00000321063 human ensembl 70_37 -1 known missense c.1630 p.R544W 1.000 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA4 HGNC NPY4R 5540 genome.wustl.edu 37 10 47087829 47087829 + Missense_Mutation SNP C C G TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 10 47087829 47087829 C G SNP PPYR1 ENST00000374312 human ensembl 70_37 +1 known missense c.1046 p.S349W 0.047 prints_NPY4_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PPYR1 HGNC PTCHD3 374308 genome.wustl.edu 37 10 27702730 27702730 + Silent SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 10 27702730 27702730 G T SNP PTCHD3 ENST00000438700 human ensembl 70_37 -1 known silent c.450 p.A150 0.000 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC PTPRA 5786 genome.wustl.edu 37 20 2945566 2945566 + Missense_Mutation SNP G G C TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 20 2945566 2945566 G C SNP PTPRA ENST00000425918 human ensembl 70_37 +1 known missense c.166 p.E56Q 0.998 pirsf_Tyr_Pase_rcpt_a/e-type pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_a/e-type,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRA HGNC PTPRS 5802 genome.wustl.edu 37 19 5265145 5265145 + Silent SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 19 5265145 5265145 G T SNP PTPRS ENST00000372412 human ensembl 70_37 -1 known silent c.442 p.R148 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like - no_errors PTPRS HGNC PVRL2 5819 genome.wustl.edu 37 19 45381604 45381604 + Silent SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 19 45381604 45381604 G A SNP PVRL2 ENST00000252485 human ensembl 70_37 +1 known silent c.1167 p.R389 0.999 NULL pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PVRL2 HGNC PVRL2 5819 genome.wustl.edu 37 19 45381610 45381610 + Silent SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 19 45381610 45381610 G A SNP PVRL2 ENST00000252485 human ensembl 70_37 +1 known silent c.1173 p.R391 1.000 NULL pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PVRL2 HGNC RAB40C 57799 genome.wustl.edu 37 16 676096 676096 + Missense_Mutation SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 16 676096 676096 G T SNP RAB40C ENST00000248139 human ensembl 70_37 +1 known missense c.540 p.M180I 1.000 smart_Ran_GTPase,pfscan_SOCS_C pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB40C HGNC RFX8 731220 genome.wustl.edu 37 2 102034125 102034125 + Missense_Mutation SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 2 102034125 102034125 G T SNP RFX8 ENST00000376826 human ensembl 70_37 -1 known missense c.712 p.H238N 0.837 NULL pfam_DNA-bd_RFX - no_errors RFX8 HGNC RIBC2 26150 genome.wustl.edu 37 22 45810212 45810212 + Missense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 22 45810212 45810212 G A SNP RIBC2 ENST00000538017 human ensembl 70_37 +1 known missense c.124 p.E42K 0.000 pfam_RIB43A pfam_RIB43A - no_errors RIBC2 HGNC RPL22P19 644022 genome.wustl.edu 37 12 125420292 125420292 + RNA SNP C C G TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 12 125420292 125420292 C G SNP RPL22P19 ENST00000480427 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RPL22P19 HGNC RRNAD1 51093 genome.wustl.edu 37 1 156706681 156706681 + RNA SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 1 156706681 156706681 C T SNP RRNAD1 ENST00000481920 human ensembl 70_37 +1 putative rna NULL NULL 0.001 - - - no_errors RRNAD1 HGNC RRP12 23223 genome.wustl.edu 37 10 99129987 99129987 + Missense_Mutation SNP C C A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 10 99129987 99129987 C A SNP RRP12 ENST00000370992 human ensembl 70_37 -1 known missense c.2734 p.G912C 1.000 superfamily_ARM-type_fold pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold - no_errors RRP12 HGNC RTL1 388015 genome.wustl.edu 37 14 101350763 101350763 + Missense_Mutation SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 14 101350763 101350763 C T SNP RTL1 ENST00000534062 human ensembl 70_37 -1 known missense c.363 p.M121I 0.001 NULL pfam_Retrotrans_gag,superfamily_Peptidase_aspartic - no_errors RTL1 HGNC SCAF4 57466 genome.wustl.edu 37 21 33060778 33060778 + Splice_Site SNP C C A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 21 33060778 33060778 C A SNP SCAF4 ENST00000286835 human ensembl 70_37 -1 known splice_site c.1886-1 e16-1 1.000 - - - no_errors SCAF4 HGNC SCOC 60592 genome.wustl.edu 37 4 141264834 141264834 + Missense_Mutation SNP C C G TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 4 141264834 141264834 C G SNP SCOC ENST00000338517 human ensembl 70_37 +1 known missense c.42 p.F14L 1.000 NULL pfam_DUF2205_coiled-coil - no_errors SCOC HGNC SLC17A8 246213 genome.wustl.edu 37 12 100787237 100787237 + Silent SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 12 100787237 100787237 C T SNP SLC17A8 ENST00000323346 human ensembl 70_37 +1 known silent c.564 p.V188 0.397 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 SLC26A11 284129 genome.wustl.edu 37 17 78196495 78196495 + Silent SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 17 78196495 78196495 C T SNP SLC26A11 ENST00000361193 human ensembl 70_37 +1 known silent c.276 p.F92 1.000 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A11 HGNC SLC26A11 284129 genome.wustl.edu 37 17 78196636 78196636 + Silent SNP C C G TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 17 78196636 78196636 C G SNP SLC26A11 ENST00000361193 human ensembl 70_37 +1 known silent c.417 p.V139 1.000 pfam_Sulph_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A11 HGNC SMPD2 6610 genome.wustl.edu 37 6 109762559 109762559 + Splice_Site DEL G G - TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 6 109762559 109762559 G - DEL SMPD2 ENST00000258052 human ensembl 70_37 +1 known splice_site_del c.51-1 e2-1 1.000 - - - no_errors SMPD2 HGNC SMTN 6525 genome.wustl.edu 37 22 31484486 31484486 + RNA SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 22 31484486 31484486 G A SNP SMTN ENST00000475548 human ensembl 70_37 +1 known rna NULL NULL 0.044 - - - no_errors SMTN HGNC SYTL3 94120 genome.wustl.edu 37 6 159183155 159183155 + Nonsense_Mutation SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 6 159183155 159183155 G T SNP SYTL3 ENST00000297239 human ensembl 70_37 +1 known nonsense c.1462 p.G488* 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain - no_errors SYTL3 HGNC TAF1C 9013 genome.wustl.edu 37 16 84213391 84213391 + Missense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 16 84213391 84213391 G A SNP TAF1C ENST00000378541 human ensembl 70_37 -1 known missense c.1766 p.S589L 0.975 NULL superfamily_WD40_repeat_dom - no_errors TAF1C HGNC TCHH 7062 genome.wustl.edu 37 1 152080039 152080039 + Missense_Mutation SNP A A G TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 1 152080039 152080039 A G SNP TCHH ENST00000368804 human ensembl 70_37 -1 known missense c.5654 p.I1885T 0.198 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC TENM1 10178 genome.wustl.edu 37 X 123680777 123680777 + Silent SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 X 123680777 123680777 G A SNP TENM1 ENST00000422452 human ensembl 70_37 -1 known silent c.2598 p.L866 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC TENM2 57451 genome.wustl.edu 37 5 167642273 167642273 + Silent SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 5 167642273 167642273 G A SNP TENM2 ENST00000518659 human ensembl 70_37 +1 known silent c.4074 p.P1358 0.000 superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC TGFBR2 7048 genome.wustl.edu 37 3 30713254 30713254 + Silent SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 3 30713254 30713254 G A SNP TGFBR2 ENST00000359013 human ensembl 70_37 +1 known silent c.654 p.R218 1.000 pirsf_Transform_growth_fac-b_typ-2 pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Transform_growth_fac-b_typ-2,prints_Activin_II/TGFBeta-II_recpt,pfscan_Prot_kinase_cat_dom - no_errors TGFBR2 HGNC TIGD7 91151 genome.wustl.edu 37 16 3349798 3349798 + Missense_Mutation SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 16 3349798 3349798 C T SNP TIGD7 ENST00000268674 human ensembl 70_37 -1 known missense c.817 p.E273K 1.000 pfam_DDE_SF_endonuclease_CENPB-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD7 HGNC TMEM177 80775 genome.wustl.edu 37 2 120439094 120439094 + Missense_Mutation SNP C C G TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 2 120439094 120439094 C G SNP TMEM177 ENST00000272521 human ensembl 70_37 +1 known missense c.665 p.S222C 1.000 NULL NULL - no_errors TMEM177 HGNC TNXB 7148 genome.wustl.edu 37 6 32026140 32026140 + Missense_Mutation SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 6 32026140 32026140 G T SNP TNXB ENST00000375247 human ensembl 70_37 -1 known missense c.7520 p.P2507H 0.945 NULL 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 TNXB HGNC TTC3 7267 genome.wustl.edu 37 21 38505018 38505018 + Silent SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 21 38505018 38505018 G A SNP TTC3 ENST00000354749 human ensembl 70_37 +1 known silent c.1395 p.K465 0.614 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC TTLL1 25809 genome.wustl.edu 37 22 43465794 43465794 + Missense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 22 43465794 43465794 G A SNP TTLL1 ENST00000266254 human ensembl 70_37 -1 known missense c.170 p.S57L 1.000 NULL pfam_Tub_tyr_ligase - no_errors TTLL1 HGNC TTN-AS1 100506866 genome.wustl.edu 37 2 179637802 179637802 + RNA SNP C C G TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 2 179637802 179637802 C G SNP TTN-AS1 ENST00000584485 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TTN-AS1 HGNC UBTF 7343 genome.wustl.edu 37 17 42293273 42293273 + Splice_Site SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 17 42293273 42293273 C T SNP UBTF ENST00000302904 human ensembl 70_37 -1 known splice_site c.318+1 e3+1 1.000 - - - no_errors UBTF HGNC UCP2 7351 genome.wustl.edu 37 11 73689365 73689365 + Missense_Mutation SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 11 73689365 73689365 G T SNP UCP2 ENST00000310473 human ensembl 70_37 -1 known missense c.59 p.A20D 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling - no_errors UCP2 HGNC UGT1A7 54577 genome.wustl.edu 37 2 234590905 234590905 + Silent SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 2 234590905 234590905 C T SNP UGT1A7 ENST00000373426 human ensembl 70_37 +1 known silent c.322 p.L108 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A7 HGNC UHRF1BP1 54887 genome.wustl.edu 37 6 34827265 34827265 + Silent SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 6 34827265 34827265 G T SNP UHRF1BP1 ENST00000192788 human ensembl 70_37 +1 known silent c.3132 p.V1044 0.997 NULL NULL - no_errors UHRF1BP1 HGNC UHRF2 115426 genome.wustl.edu 37 9 6434148 6434148 + Missense_Mutation SNP G G A TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 9 6434148 6434148 G A SNP UHRF2 ENST00000276893 human ensembl 70_37 +1 known missense c.619 p.V207I 1.000 pfam_DUF3590 pfam_SRA_YDG,pfam_DUF3590,pfam_Ubiquitin,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Ubiquitin,smart_Znf_PHD,smart_Znf_RING,smart_SRA_YDG,pfscan_SRA_YDG,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup - no_errors UHRF2 HGNC WAC 51322 genome.wustl.edu 37 10 28900809 28900809 + Silent SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 10 28900809 28900809 C T SNP WAC ENST00000354911 human ensembl 70_37 +1 known silent c.1395 p.I465 0.999 NULL pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors WAC HGNC WBP11P1 441818 genome.wustl.edu 37 18 30092860 30092860 + RNA SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 18 30092860 30092860 G T SNP WBP11P1 ENST00000567636 human ensembl 70_37 +1 known rna NULL NULL 0.988 - - - no_errors WBP11P1 HGNC WDR7 23335 genome.wustl.edu 37 18 54629743 54629743 + Missense_Mutation SNP C C T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 18 54629743 54629743 C T SNP WDR7 ENST00000254442 human ensembl 70_37 +1 known missense c.4147 p.R1383W 1.000 smart_WD40_repeat pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ZBED4 9889 genome.wustl.edu 37 22 50277648 50277648 + Missense_Mutation SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 22 50277648 50277648 G T SNP ZBED4 ENST00000216268 human ensembl 70_37 +1 known missense c.338 p.S113I 0.999 NULL pfam_Znf_BED_prd,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED4 HGNC ZBTB7A 51341 genome.wustl.edu 37 19 4054708 4054709 + Frame_Shift_Ins INS - - G TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 676d4bc5-80c2-4db8-94b1-3dea2aed054a 6f0a4ae6-186b-46de-b2da-a87dd33725a2 19 4054708 4054709 - G INS ZBTB7A ENST00000322357 human ensembl 70_37 -1 known frame_shift_ins c.523_522 p.A174fs 0.522:0.571 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 ZBTB7A HGNC