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 A2M 2 genome.wustl.edu 37 12 9265042 9265042 + Missense_Mutation SNP T T C TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 12 9265042 9265042 T C SNP A2M ENST00000318602 human ensembl 70_37 -1 known missense c.361 p.M121V 0.001 superfamily_Cupredoxin pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ACR 49 genome.wustl.edu 37 22 51183025 51183025 + RNA SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 22 51183025 51183025 C T SNP ACR ENST00000527761 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ACR HGNC AKAP13 11214 genome.wustl.edu 37 15 86228062 86228062 + Silent SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 15 86228062 86228062 C T SNP AKAP13 ENST00000361243 human ensembl 70_37 +1 known silent c.5259 p.F1753 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ANKRD52 283373 genome.wustl.edu 37 12 56638887 56638887 + Missense_Mutation SNP A A G TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 12 56638887 56638887 A G SNP ANKRD52 ENST00000267116 human ensembl 70_37 -1 known missense c.2492 p.V831A 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD52 HGNC AQP12A 375318 genome.wustl.edu 37 2 241631397 241631397 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 2 241631397 241631397 C T SNP AQP12A ENST00000429564 human ensembl 70_37 +1 known missense c.67 p.R23W 0.730 pirsf_Aquaporin_11/12,prints_Aquaporin_12 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP - no_errors AQP12A HGNC ARPC1B 10095 genome.wustl.edu 37 7 98992156 98992156 + RNA SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 7 98992156 98992156 G A SNP ARPC1B ENST00000461486 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ARPC1B HGNC ASB4 51666 genome.wustl.edu 37 7 95157220 95157220 + Missense_Mutation SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 7 95157220 95157220 G A SNP ASB4 ENST00000325885 human ensembl 70_37 +1 known missense c.583 p.V195M 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_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 - no_errors ASB4 HGNC BCORL1 63035 genome.wustl.edu 37 X 129155081 129155081 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e X 129155081 129155081 C T SNP BCORL1 ENST00000303743 human ensembl 70_37 +1 known missense c.3563 p.P1188L 0.904 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC BHLHE22 27319 genome.wustl.edu 37 8 65494180 65494180 + Missense_Mutation SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 8 65494180 65494180 G A SNP BHLHE22 ENST00000321870 human ensembl 70_37 +1 known missense c.833 p.R278Q 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors BHLHE22 HGNC BTN2A2 10385 genome.wustl.edu 37 6 26392863 26392863 + Nonsense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 6 26392863 26392863 C T SNP BTN2A2 ENST00000356709 human ensembl 70_37 +1 known nonsense c.1240 p.Q414* 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like - no_errors BTN2A2 HGNC C5orf54 63920 genome.wustl.edu 37 5 159821108 159821108 + Missense_Mutation SNP T T C TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 5 159821108 159821108 T C SNP C5orf54 ENST00000408953 human ensembl 70_37 -1 known missense c.1390 p.I464V 0.106 NULL superfamily_RNaseH-like_dom - no_errors C5orf54 HGNC CCDC91 55297 genome.wustl.edu 37 12 28605543 28605543 + Nonsense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 12 28605543 28605543 C T SNP CCDC91 ENST00000381259 human ensembl 70_37 +1 known nonsense c.1057 p.Q353* 0.995 NULL NULL - no_errors CCDC91 HGNC CCR9 10803 genome.wustl.edu 37 3 45942736 45942736 + Missense_Mutation SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 3 45942736 45942736 G A SNP CCR9 ENST00000357632 human ensembl 70_37 +1 known missense c.456 p.M152I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR9,prints_Chemokine_rcpt,prints_Chemokine_CCR7,prints_ATII_rcpt,prints_Chemokine_CCR11,prints_Chemokine_CXCR4 - no_errors CCR9 HGNC CDC20 991 genome.wustl.edu 37 1 43827899 43827899 + Missense_Mutation SNP G G C TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 1 43827899 43827899 G C SNP CDC20 ENST00000310955 human ensembl 70_37 +1 known missense c.1237 p.E413Q 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_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 CDC20 HGNC CDC20 991 genome.wustl.edu 37 1 43827910 43827910 + Silent SNP A A C TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 1 43827910 43827910 A C SNP CDC20 ENST00000310955 human ensembl 70_37 +1 known silent c.1248 p.S416 0.979 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_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 CDC20 HGNC CDC42BPB 9578 genome.wustl.edu 37 14 103406262 103406262 + Silent SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 14 103406262 103406262 G A SNP CDC42BPB ENST00000361246 human ensembl 70_37 -1 known silent c.4614 p.D1538 1.000 NULL pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC CDK13 8621 genome.wustl.edu 37 7 40118338 40118338 + Missense_Mutation SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 7 40118338 40118338 G A SNP CDK13 ENST00000181839 human ensembl 70_37 +1 known missense c.2917 p.D973N 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom 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 CDK13 HGNC COL12A1 1303 genome.wustl.edu 37 6 75884903 75884903 + Missense_Mutation SNP C C A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 6 75884903 75884903 C A SNP COL12A1 ENST00000322507 human ensembl 70_37 -1 known missense c.2561 p.G854V 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC DCHS2 54798 genome.wustl.edu 37 4 155161923 155161923 + Missense_Mutation SNP C C G TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 4 155161923 155161923 C G SNP DCHS2 ENST00000357232 human ensembl 70_37 -1 known missense c.5760 p.L1920F 0.966 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC DDX11 1663 genome.wustl.edu 37 12 31237978 31237978 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 12 31237978 31237978 C T SNP DDX11 ENST00000407793 human ensembl 70_37 +1 known missense c.556 p.R186W 0.002 smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3 pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors DDX11 HGNC DGCR2 9993 genome.wustl.edu 37 22 19036055 19036055 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 22 19036055 19036055 C T SNP DGCR2 ENST00000263196 human ensembl 70_37 -1 known missense c.904 p.E302K 1.000 smart_VWF_C pfam_LDrepeatLR_classA_rpt,superfamily_C-type_lectin_fold,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_C-type_lectin,smart_VWF_C,pfscan_LDrepeatLR_classA_rpt,pfscan_C-type_lectin - no_errors DGCR2 HGNC DIDO1 11083 genome.wustl.edu 37 20 61527728 61527728 + Missense_Mutation SNP C C G TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 20 61527728 61527728 C G SNP DIDO1 ENST00000266070 human ensembl 70_37 -1 known missense c.2071 p.D691H 1.000 pfam_TFIIS_cen_dom,superfamily_TFIIS_cen_dom,smart_TFS2M pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC DMD 1756 genome.wustl.edu 37 X 32509432 32509432 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e X 32509432 32509432 C T SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.2584 p.E862K 0.998 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC DNAJC14 85406 genome.wustl.edu 37 12 56222390 56222390 + Missense_Mutation SNP C C A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 12 56222390 56222390 C A SNP DNAJC14 ENST00000317269 human ensembl 70_37 -1 known missense c.53 p.G18V 0.995 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC14 HGNC DYNC2H1 79659 genome.wustl.edu 37 11 103049938 103049938 + Missense_Mutation SNP C C G TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 11 103049938 103049938 C G SNP DYNC2H1 ENST00000398093 human ensembl 70_37 +1 known missense c.6323 p.S2108C 1.000 pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase 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 ECT2L 345930 genome.wustl.edu 37 6 139203908 139203908 + Missense_Mutation SNP C C A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 6 139203908 139203908 C A SNP ECT2L ENST00000367682 human ensembl 70_37 +1 known missense c.1928 p.A643D 0.955 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_F-box_dom_cyclin-like,superfamily_DH-domain,superfamily_F-box_dom_cyclin-like,smart_DH-domain,pfscan_DH-domain - no_errors ECT2L HGNC ENSG00000161103 0 genome.wustl.edu 37 22 18845939 18845939 + RNA SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 22 18845939 18845939 G A SNP ENSG00000161103 ENST00000412938 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC008103.5 Clone_based_vega_gene ERCC6L 54821 genome.wustl.edu 37 X 71427938 71427938 + Missense_Mutation SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e X 71427938 71427938 G A SNP ERCC6L ENST00000334463 human ensembl 70_37 -1 known missense c.679 p.L227F 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L HGNC FLNA 2316 genome.wustl.edu 37 X 153582588 153582588 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e X 153582588 153582588 C T SNP FLNA ENST00000369850 human ensembl 70_37 -1 known missense c.5488 p.V1830M 0.999 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC GALNT2 2590 genome.wustl.edu 37 1 230398692 230398692 + Silent SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 1 230398692 230398692 G A SNP GALNT2 ENST00000366672 human ensembl 70_37 +1 known silent c.1254 p.R418 0.998 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT2 HGNC GPR137 56834 genome.wustl.edu 37 11 64055225 64055225 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 11 64055225 64055225 C T SNP GPR137 ENST00000313074 human ensembl 70_37 +1 known missense c.440 p.S147L 1.000 NULL NULL - no_errors GPR137 HGNC GRIK1 2897 genome.wustl.edu 37 21 30909691 30909691 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 21 30909691 30909691 C T SNP GRIK1 ENST00000535441 human ensembl 70_37 -1 known missense c.2629 p.A877T 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK1 HGNC HDAC7 51564 genome.wustl.edu 37 12 48189022 48189022 + Missense_Mutation SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 12 48189022 48189022 G A SNP HDAC7 ENST00000380610 human ensembl 70_37 -1 known missense c.1280 p.P427L 0.996 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC7 HGNC HK2 3099 genome.wustl.edu 37 2 75116397 75116397 + Nonsense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 2 75116397 75116397 C T SNP HK2 ENST00000290573 human ensembl 70_37 +1 known nonsense c.2401 p.R801* 1.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK2 HGNC HSF5 124535 genome.wustl.edu 37 17 56540518 56540518 + Silent SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 17 56540518 56540518 C T SNP HSF5 ENST00000323777 human ensembl 70_37 -1 known silent c.1167 p.E389 1.000 NULL pfam_HSF_DNA-bd,smart_HSF_DNA-bd - no_errors HSF5 HGNC LAMB3 3914 genome.wustl.edu 37 1 209789963 209789963 + Missense_Mutation SNP C C G TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 1 209789963 209789963 C G SNP LAMB3 ENST00000356082 human ensembl 70_37 -1 known missense c.3235 p.E1079Q 1.000 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC LAMB3 3914 genome.wustl.edu 37 1 209791342 209791342 + Silent SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 1 209791342 209791342 C T SNP LAMB3 ENST00000356082 human ensembl 70_37 -1 known silent c.2961 p.L987 0.985 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC LHFPL4 375323 genome.wustl.edu 37 3 9594298 9594298 + Silent SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 3 9594298 9594298 G A SNP LHFPL4 ENST00000287585 human ensembl 70_37 -1 known silent c.66 p.I22 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL4 HGNC LIN9 286826 genome.wustl.edu 37 1 226426770 226426770 + Nonsense_Mutation SNP C C A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 1 226426770 226426770 C A SNP LIN9 ENST00000328205 human ensembl 70_37 -1 known nonsense c.1195 p.E399* 1.000 NULL pfam_DIRP - no_errors LIN9 HGNC LIPH 200879 genome.wustl.edu 37 3 185252685 185252685 + Silent SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 3 185252685 185252685 C T SNP LIPH ENST00000296252 human ensembl 70_37 -1 known silent c.285 p.L95 1.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPH HGNC LRP11 84918 genome.wustl.edu 37 6 150158587 150158587 + Missense_Mutation SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 6 150158587 150158587 G A SNP LRP11 ENST00000239367 human ensembl 70_37 -1 known missense c.926 p.T309I 0.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_MANSC_N,pfam_LDrepeatLR_classA_rpt,superfamily_PKD_dom,superfamily_LDrepeatLR_classA_rpt,smart_MANSC_N,smart_PKD/Chitinase_dom,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_MANSC,pfscan_PKD_dom - no_errors LRP11 HGNC LRP6 4040 genome.wustl.edu 37 12 12303967 12303967 + Missense_Mutation SNP T T G TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 12 12303967 12303967 T G SNP LRP6 ENST00000261349 human ensembl 70_37 -1 known missense c.2797 p.T933P 0.997 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 LRP6 HGNC LRRC41 10489 genome.wustl.edu 37 1 46746151 46746151 + Missense_Mutation SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 1 46746151 46746151 G A SNP LRRC41 ENST00000343304 human ensembl 70_37 -1 known missense c.1838 p.S613L 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC MDGA2 161357 genome.wustl.edu 37 14 47314992 47314992 + Missense_Mutation SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 14 47314992 47314992 G A SNP MDGA2 ENST00000399232 human ensembl 70_37 -1 known missense c.2966 p.A989V 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like - no_errors MDGA2 HGNC MDGA2 161357 genome.wustl.edu 37 14 47351300 47351300 + Missense_Mutation SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 14 47351300 47351300 G A SNP MDGA2 ENST00000399232 human ensembl 70_37 -1 known missense c.2363 p.P788L 1.000 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like - no_errors MDGA2 HGNC MED13L 23389 genome.wustl.edu 37 12 116675500 116675500 + Missense_Mutation SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 12 116675500 116675500 G A SNP MED13L ENST00000281928 human ensembl 70_37 -1 known missense c.83 p.T28M 1.000 pfam_Mediator_Med13_N_met/fun pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC MUC16 94025 genome.wustl.edu 37 19 9061666 9061666 + Missense_Mutation SNP G G C TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 19 9061666 9061666 G C SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.25780 p.L8594V 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC NBPF1 55672 genome.wustl.edu 37 1 16903865 16903865 + RNA SNP T T C TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 1 16903865 16903865 T C SNP NBPF1 ENST00000392963 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors NBPF1 HGNC NBPF3 84224 genome.wustl.edu 37 1 21807446 21807446 + Nonsense_Mutation SNP G G T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 1 21807446 21807446 G T SNP NBPF3 ENST00000318249 human ensembl 70_37 +1 known nonsense c.1405 p.E469* 0.019 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF3 HGNC NOTCH1 4851 genome.wustl.edu 37 9 139399461 139399461 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 9 139399461 139399461 C T SNP NOTCH1 ENST00000277541 human ensembl 70_37 -1 known missense c.4682 p.C1561Y 1.000 superfamily_Notch_dom,smart_Notch_dom,pirsf_Notch,pfscan_Notch_dom,prints_Notch_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC OPLAH 26873 genome.wustl.edu 37 8 145106962 145106962 + RNA SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 8 145106962 145106962 C T SNP OPLAH ENST00000426825 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors OPLAH HGNC PARK2 5071 genome.wustl.edu 37 6 161969941 161969941 + Missense_Mutation SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 6 161969941 161969941 G A SNP PARK2 ENST00000366898 human ensembl 70_37 -1 known missense c.1028 p.P343L 0.972 pfam_Znf_C6HC,smart_Znf_C6HC,pirsf_Parkin,prints_Parkin pfam_Ubiquitin,pfam_Znf_C6HC,pfam_SUMO,smart_Ubiquitin,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin_subgr - no_errors PARK2 HGNC PCNXL2 80003 genome.wustl.edu 37 1 233372617 233372617 + Missense_Mutation SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 1 233372617 233372617 G A SNP PCNXL2 ENST00000258229 human ensembl 70_37 -1 known missense c.2332 p.R778C 1.000 NULL pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like - no_errors PCNXL2 HGNC PEX5L 51555 genome.wustl.edu 37 3 179593161 179593161 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 3 179593161 179593161 C T SNP PEX5L ENST00000467460 human ensembl 70_37 -1 known missense c.610 p.G204R 1.000 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5L HGNC PLCG2 5336 genome.wustl.edu 37 16 81927367 81927367 + Missense_Mutation SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 16 81927367 81927367 G A SNP PLCG2 ENST00000359376 human ensembl 70_37 +1 known missense c.1040 p.R347H 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pirsf_PLC-gamma,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_Ca-dep,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC PLEKHA8P1 51054 genome.wustl.edu 37 12 45568077 45568077 + RNA SNP A A T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 12 45568077 45568077 A T SNP PLEKHA8P1 ENST00000256692 human ensembl 70_37 -1 known rna NULL NULL 0.778 - - - no_errors PLEKHA8P1 HGNC PPM1M 132160 genome.wustl.edu 37 3 52281193 52281193 + Frame_Shift_Del DEL C C - TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 3 52281193 52281193 C - DEL PPM1M ENST00000457351 human ensembl 70_37 +1 known frame_shift_del c.546 p.R183fs 0.812 superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1M HGNC PRLHR 2834 genome.wustl.edu 37 10 120353959 120353959 + Silent SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 10 120353959 120353959 G A SNP PRLHR ENST00000239032 human ensembl 70_37 -1 known silent c.798 p.A266 0.204 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PRLHR HGNC PRR5L 79899 genome.wustl.edu 37 11 36484190 36484190 + Silent SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 11 36484190 36484190 C T SNP PRR5L ENST00000378867 human ensembl 70_37 +1 known silent c.1011 p.S337 1.000 NULL pfam_HbrB - no_errors PRR5L HGNC PRSS38 339501 genome.wustl.edu 37 1 228003831 228003831 + Silent SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 1 228003831 228003831 C T SNP PRSS38 ENST00000366757 human ensembl 70_37 +1 known silent c.189 p.G63 0.001 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 - no_errors PRSS38 HGNC RASA3 22821 genome.wustl.edu 37 13 114762093 114762093 + Silent SNP G G C TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 13 114762093 114762093 G C SNP RASA3 ENST00000334062 human ensembl 70_37 -1 known silent c.2055 p.V685 1.000 pfam_Znf_Btk_motif,smart_Znf_Btk_motif,pfscan_Znf_Btk_motif,prints_Znf_Btk_motif pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA3 HGNC RHOV 171177 genome.wustl.edu 37 15 41165905 41165905 + Missense_Mutation SNP C C G TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 15 41165905 41165905 C G SNP RHOV ENST00000220507 human ensembl 70_37 -1 known missense c.244 p.E82Q 1.000 pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOV HGNC RNASE6 6039 genome.wustl.edu 37 14 21250155 21250155 + Silent SNP C C A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 14 21250155 21250155 C A SNP RNASE6 ENST00000304677 human ensembl 70_37 +1 known silent c.297 p.V99 0.000 pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE6 HGNC RPIA 22934 genome.wustl.edu 37 2 88991297 88991297 + Silent SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 2 88991297 88991297 C T SNP RPIA ENST00000283646 human ensembl 70_37 +1 known silent c.81 p.S27 0.001 NULL pfam_Ribose5P_isomerase_typA,tigrfam_Ribose5P_isomerase_typA - no_errors RPIA HGNC RYR2 6262 genome.wustl.edu 37 1 237789071 237789071 + Missense_Mutation SNP G G C TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 1 237789071 237789071 G C SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.6127 p.E2043Q 0.997 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC S1PR5 53637 genome.wustl.edu 37 19 10625529 10625529 + Silent SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 19 10625529 10625529 C T SNP S1PR5 ENST00000333430 human ensembl 70_37 -1 known silent c.159 p.E53 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG8_S1P_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn - no_errors S1PR5 HGNC SBDS 51119 genome.wustl.edu 37 7 66460333 66460333 + Silent SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 7 66460333 66460333 C T SNP SBDS ENST00000246868 human ensembl 70_37 -1 known silent c.72 p.G24 0.998 pfam_Ribosome_mat_SBDS_N,superfamily_Ribosome_mat_SBDS_N,tigrfam_Ribosome_maturation_pr_SBDS pfam_Ribosome_mat_SBDS_C,pfam_Ribosome_mat_SBDS_N,superfamily_Ribosome_mat_SBDS_N,tigrfam_Ribosome_maturation_pr_SBDS - no_errors SBDS HGNC SCN5A 6331 genome.wustl.edu 37 3 38592173 38592173 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 3 38592173 38592173 C T SNP SCN5A ENST00000333535 human ensembl 70_37 -1 known missense c.5690 p.R1897Q 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC SEC61A2 55176 genome.wustl.edu 37 10 12203080 12203080 + Missense_Mutation SNP C C G TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 10 12203080 12203080 C G SNP SEC61A2 ENST00000298428 human ensembl 70_37 +1 known missense c.1127 p.S376C 1.000 pfam_SecY/SEC61-alpha,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha - no_errors SEC61A2 HGNC SFMBT2 57713 genome.wustl.edu 37 10 7423844 7423844 + Nonsense_Mutation SNP G G C TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 10 7423844 7423844 G C SNP SFMBT2 ENST00000361972 human ensembl 70_37 -1 known nonsense c.17 p.S6* 0.049 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC SLC18B1 116843 genome.wustl.edu 37 6 133100529 133100529 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 6 133100529 133100529 C T SNP SLC18B1 ENST00000275227 human ensembl 70_37 -1 known missense c.673 p.E225K 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18B1 HGNC SMARCC1 6599 genome.wustl.edu 37 3 47703996 47703996 + Missense_Mutation SNP C C G TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 3 47703996 47703996 C G SNP SMARCC1 ENST00000254480 human ensembl 70_37 -1 known missense c.1986 p.L662F 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC1 HGNC SPDYE3 441272 genome.wustl.edu 37 7 99909547 99909547 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 7 99909547 99909547 C T SNP SPDYE3 ENST00000332397 human ensembl 70_37 +1 known missense c.719 p.S240L 0.022 NULL pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYE3 HGNC SYNE2 23224 genome.wustl.edu 37 14 64491095 64491095 + Nonsense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 14 64491095 64491095 C T SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known nonsense c.5758 p.Q1920* 0.477 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC TBXA2R 6915 genome.wustl.edu 37 19 3595827 3595827 + Missense_Mutation SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 19 3595827 3595827 G A SNP TBXA2R ENST00000589966 human ensembl 70_37 -1 putative missense c.502 p.H168Y 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt,prints_Prostanoid_rcpt - no_errors TBXA2R HGNC TENM1 10178 genome.wustl.edu 37 X 123838977 123838977 + Missense_Mutation SNP A A T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e X 123838977 123838977 A T SNP TENM1 ENST00000422452 human ensembl 70_37 -1 known missense c.901 p.S301T 1.000 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC THOC2 57187 genome.wustl.edu 37 X 122745309 122745309 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e X 122745309 122745309 C T SNP THOC2 ENST00000245838 human ensembl 70_37 -1 known missense c.4736 p.G1579E 1.000 NULL pfam_THO_THOC2_C,pfam_THO_THOC2_N - no_errors THOC2 HGNC TMEM53 79639 genome.wustl.edu 37 1 45120220 45120220 + RNA SNP G G C TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 1 45120220 45120220 G C SNP TMEM53 ENST00000468117 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors TMEM53 HGNC TP63 8626 genome.wustl.edu 37 3 189608648 189608648 + Nonsense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 3 189608648 189608648 C T SNP TP63 ENST00000264731 human ensembl 70_37 +1 known nonsense c.1723 p.Q575* 1.000 pfam_SAM_2,superfamily_SAM/pointed,smart_SAM pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP63 HGNC TRPC1 7220 genome.wustl.edu 37 3 142443466 142443466 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 3 142443466 142443466 C T SNP TRPC1 ENST00000476941 human ensembl 70_37 +1 known missense c.65 p.S22F 1.000 NULL pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC1 HGNC TRPC1 7220 genome.wustl.edu 37 3 142443468 142443468 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 3 142443468 142443468 C T SNP TRPC1 ENST00000476941 human ensembl 70_37 +1 known missense c.67 p.P23S 1.000 NULL pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC1 HGNC TTN 7273 genome.wustl.edu 37 2 179412236 179412236 + Missense_Mutation SNP G G T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 2 179412236 179412236 G T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.86413 p.L28805I 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179458767 179458767 + Silent SNP A A G TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 2 179458767 179458767 A G SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.50649 p.R16883 0.452 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TYK2 7297 genome.wustl.edu 37 19 10468442 10468442 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 19 10468442 10468442 C T SNP TYK2 ENST00000264818 human ensembl 70_37 -1 known missense c.2464 p.E822K 0.998 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC UCMA 221044 genome.wustl.edu 37 10 13275614 13275614 + Silent SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 10 13275614 13275614 G A SNP UCMA ENST00000378681 human ensembl 70_37 -1 known silent c.144 p.F48 1.000 NULL NULL - no_errors UCMA HGNC UFC1 51506 genome.wustl.edu 37 1 161128205 161128205 + Missense_Mutation SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 1 161128205 161128205 G A SNP UFC1 ENST00000368003 human ensembl 70_37 +1 known missense c.427 p.G143S 1.000 pfam_Ufc1,superfamily_UBQ-conjugating_enzyme/RWD,pirsf_Ufc1 pfam_Ufc1,superfamily_UBQ-conjugating_enzyme/RWD,pirsf_Ufc1 - no_errors UFC1 HGNC USPL1 10208 genome.wustl.edu 37 13 31205523 31205523 + Silent SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 13 31205523 31205523 G A SNP USPL1 ENST00000255304 human ensembl 70_37 +1 known silent c.780 p.S260 0.000 pfscan_Peptidase_C19 pfscan_Peptidase_C19 - no_errors USPL1 HGNC VPS13C 54832 genome.wustl.edu 37 15 62283886 62283886 + Nonsense_Mutation SNP G G T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 15 62283886 62283886 G T SNP VPS13C ENST00000261517 human ensembl 70_37 -1 known nonsense c.1469 p.S490* 0.988 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13C HGNC VWF 7450 genome.wustl.edu 37 12 6062680 6062682 + In_Frame_Del DEL TCC TCC - TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 12 6062680 6062682 TCC - DEL VWF ENST00000261405 human ensembl 70_37 -1 known in_frame_del c.7968_7966 p.G2656in_frame_del 0.994:1.000:1.000 pirsf_VWF pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pirsf_VWF,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC WRNIP1 56897 genome.wustl.edu 37 6 2766657 2766657 + Missense_Mutation SNP G G T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 6 2766657 2766657 G T SNP WRNIP1 ENST00000380773 human ensembl 70_37 +1 known missense c.801 p.W267C 1.000 pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,smart_AAA+_ATPase pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,smart_Znf_Rad18_put,smart_AAA+_ATPase - no_errors WRNIP1 HGNC ZIC1 7545 genome.wustl.edu 37 3 147128259 147128259 + Silent SNP C C G TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 3 147128259 147128259 C G SNP ZIC1 ENST00000282928 human ensembl 70_37 +1 known silent c.360 p.L120 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC1 HGNC ZNF491 126069 genome.wustl.edu 37 19 11917006 11917006 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 19 11917006 11917006 C T SNP ZNF491 ENST00000323169 human ensembl 70_37 +1 known missense c.238 p.R80C 0.242 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF491 HGNC ZSCAN5A 79149 genome.wustl.edu 37 19 56733683 56733683 + Missense_Mutation SNP C C G TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 19 56733683 56733683 C G SNP ZSCAN5A ENST00000391713 human ensembl 70_37 -1 known missense c.752 p.R251T 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5A HGNC ZSCAN5B 342933 genome.wustl.edu 37 19 56704223 56704223 + Missense_Mutation SNP C C T TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e41f57b5-3eb4-457e-82f6-714267f4f393 2246aadd-79f9-4671-8a35-621949e4b23e 19 56704223 56704223 C T SNP ZSCAN5B ENST00000358992 human ensembl 70_37 -1 known missense c.199 p.E67K 0.006 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5B HGNC