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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ABCA13 0 genome.wustl.edu 37 7 48318080 48318080 + Missense_Mutation SNP T T C TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 7 48318080 48318080 T C SNP ABCA13 ENST00000435803 human ensembl 69_37n +1 known missense c.7289 p.I2430T 0.004 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 39 0 0.00 63 10 13.70 - - - ACSF3 0 genome.wustl.edu 37 16 89220512 89220512 + Missense_Mutation SNP C C G TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 16 89220512 89220512 C G SNP ACSF3 ENST00000317447 human ensembl 69_37n +1 known missense c.1628 p.P543R 0.973 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSF3 HGNC ENSG00000176715 22 0 0.00 27 10 27.03 - - - AHNAK 0 genome.wustl.edu 37 11 62300539 62300539 + Silent SNP C C A TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 11 62300539 62300539 C A SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known silent c.1350 p.G450 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 58 0 0.00 79 25 24.04 - - - ARL6IP5 0 genome.wustl.edu 37 3 69134375 69134376 + Splice_Site INS - - T TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 3 69134375 69134376 - T INS ARL6IP5 ENST00000273258 human ensembl 69_37n +1 known splice_site_ins c.176+1_176+1 e1+1 1.000:1.000 - - - no_errors ARL6IP5 HGNC ENSG00000144746 28 0 0.00 23 5 17.86 - - - ASNS 0 genome.wustl.edu 37 7 97498300 97498300 + Missense_Mutation SNP A A G TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 7 97498300 97498300 A G SNP ASNS ENST00000175506 human ensembl 69_37n -1 known missense c.169 p.F57L 1.000 tigrfam_Asn_synth_AEB pfam_Asn_synthase,pfam_GATase_dom,tigrfam_Asn_synth_AEB - no_errors ASNS HGNC ENSG00000070669 65 0 0.00 40 11 21.57 - - - C9orf142 0 genome.wustl.edu 37 9 139887830 139887830 + Missense_Mutation SNP C C A TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 9 139887830 139887830 C A SNP C9orf142 ENST00000371620 human ensembl 69_37n +1 known missense c.457 p.P153T 0.000 NULL NULL - no_errors C9orf142 HGNC ENSG00000148362 18 0 0.00 9 10 52.63 - - - CDK12 0 genome.wustl.edu 37 17 37666015 37666016 + Splice_Site INS - - T TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 17 37666015 37666016 - T INS CDK12 ENST00000447079 human ensembl 69_37n +1 known splice_site_ins c.2666+1_2666+1 e7+1 1.000:1.000 - - - no_errors CDK12 HGNC ENSG00000167258 90 0 0.00 69 17 19.77 - - - CNTNAP5 0 genome.wustl.edu 37 2 125530458 125530458 + Missense_Mutation SNP C C A TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 2 125530458 125530458 C A SNP CNTNAP5 ENST00000431078 human ensembl 69_37n +1 known missense c.2613 p.D871E 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 89 0 0.00 80 17 17.53 - - - COL25A1 0 genome.wustl.edu 37 4 109817822 109817822 + Splice_Site SNP C C G TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 4 109817822 109817822 C G SNP COL25A1 ENST00000399132 human ensembl 69_37n -1 known splice_site c.906+1 e15+1 1.000 - - - no_errors COL25A1 HGNC ENSG00000188517 57 0 0.00 64 12 15.79 - - - CROCCP2 0 genome.wustl.edu 37 1 16944945 16944945 + RNA SNP G G A TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 1 16944945 16944945 G A SNP CROCCP2 ENST00000412962 human ensembl 69_37n -1 known rna NULL NULL 0.003 - - - no_errors CROCCP2 HGNC ENSG00000215908 11 0 0.00 8 4 33.33 - - - CROCCP2 0 genome.wustl.edu 37 1 16949959 16949959 + RNA SNP G G A TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 1 16949959 16949959 G A SNP CROCCP2 ENST00000421700 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors CROCCP2 HGNC ENSG00000215908 9 0 0.00 5 4 44.44 - - - DISC1 0 genome.wustl.edu 37 1 231830117 231830117 + Missense_Mutation SNP G G T TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 1 231830117 231830117 G T SNP DISC1 ENST00000439617 human ensembl 69_37n +1 known missense c.613 p.A205S 0.000 NULL superfamily_Prefoldin - no_errors DISC1 HGNC ENSG00000162946 21 0 0.00 20 4 16.67 - - - DNAH5 0 genome.wustl.edu 37 5 13901544 13901544 + Silent SNP G G A TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 5 13901544 13901544 G A SNP DNAH5 ENST00000265104 human ensembl 69_37n -1 known silent c.1869 p.I623 0.884 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 56 0 0.00 37 10 21.28 - - - EPHB3 0 genome.wustl.edu 37 3 184298863 184298863 + Missense_Mutation SNP T T A TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 3 184298863 184298863 T A SNP EPHB3 ENST00000330394 human ensembl 69_37n +1 known missense c.2642 p.L881H 1.000 pirsf_Tyr_kinase_ephrin_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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHB3 HGNC ENSG00000182580 43 0 0.00 36 10 21.74 - - - EPS8L1 0 genome.wustl.edu 37 19 55598981 55598981 + Silent SNP G G A TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 19 55598981 55598981 G A SNP EPS8L1 ENST00000201647 human ensembl 69_37n +1 known silent c.2171 p.*724 1.000 NULL pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L1 HGNC ENSG00000131037 60 0 0.00 41 7 14.58 - - - FAM46D 0 genome.wustl.edu 37 X 79699057 79699057 + Missense_Mutation SNP C C A TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf X 79699057 79699057 C A SNP FAM46D ENST00000308293 human ensembl 69_37n +1 known missense c.1019 p.P340H 1.000 NULL pfam_DUF1693 - no_errors FAM46D HGNC ENSG00000174016 53 0 0.00 43 13 23.21 - - - FAM46D 0 genome.wustl.edu 37 X 79699058 79699058 + Silent SNP C C A TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf X 79699058 79699058 C A SNP FAM46D ENST00000308293 human ensembl 69_37n +1 known silent c.1020 p.P340 0.983 NULL pfam_DUF1693 - no_errors FAM46D HGNC ENSG00000174016 53 0 0.00 43 13 23.21 - - - FAM5C 0 genome.wustl.edu 37 1 190067488 190067488 + Missense_Mutation SNP G G T TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 1 190067488 190067488 G T SNP FAM5C ENST00000367462 human ensembl 69_37n -1 known missense c.1961 p.P654H 1.000 NULL pfam_MACPF,smart_MACPF - no_errors FAM5C HGNC ENSG00000162670 56 0 0.00 63 14 18.18 - - - FBXW10 0 genome.wustl.edu 37 17 18682505 18682505 + Missense_Mutation SNP T T C TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 17 18682505 18682505 T C SNP FBXW10 ENST00000308799 human ensembl 69_37n +1 known missense c.3080 p.V1027A 0.825 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW10 HGNC ENSG00000171931 23 0 0.00 13 5 27.78 - - - FCGBP 0 genome.wustl.edu 37 19 40399508 40399508 + Missense_Mutation SNP C C T TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 19 40399508 40399508 C T SNP FCGBP ENST00000221347 human ensembl 69_37n -1 known missense c.6187 p.G2063S 0.977 smart_VWC_out,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 25 0 0.00 11 3 21.43 - - - FLG2 0 genome.wustl.edu 37 1 152327936 152327936 + Missense_Mutation SNP C C A TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 1 152327936 152327936 C A SNP FLG2 ENST00000388718 human ensembl 69_37n -1 known missense c.2326 p.G776C 0.118 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 182 0 0.00 181 26 12.56 - - - FLI1 0 genome.wustl.edu 37 11 128680835 128680835 + Silent SNP C C A TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 11 128680835 128680835 C A SNP FLI1 ENST00000429175 human ensembl 69_37n +1 known silent c.1311 p.P437 0.552 NULL pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets - no_errors FLI1 HGNC ENSG00000151702 53 0 0.00 45 9 16.67 - - - GFRAL 0 genome.wustl.edu 37 6 55216082 55216082 + Silent SNP G G A TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 6 55216082 55216082 G A SNP GFRAL ENST00000340465 human ensembl 69_37n +1 known silent c.402 p.V134 0.939 pfam_GDNF/GAS1,smart_GDNF/GAS1 pfam_GDNF/GAS1,smart_GDNF/GAS1 - no_errors GFRAL HGNC ENSG00000187871 93 0 0.00 68 13 16.05 - - - GPR174 0 genome.wustl.edu 37 X 78427390 78427390 + Missense_Mutation SNP A A T TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf X 78427390 78427390 A T SNP GPR174 ENST00000276077 human ensembl 69_37n +1 known missense c.886 p.T296S 1.000 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors GPR174 HGNC ENSG00000147138 83 0 0.00 69 18 20.69 - - - GRIPAP1 0 genome.wustl.edu 37 X 48838243 48838243 + Silent SNP G G C TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf X 48838243 48838243 G C SNP GRIPAP1 ENST00000376441 human ensembl 69_37n -1 known silent c.1641 p.L547 0.005 superfamily_Prefoldin superfamily_Prefoldin - no_errors GRIPAP1 HGNC ENSG00000068400 77 0 0.00 37 9 19.57 - - - GUCY1B2 0 genome.wustl.edu 37 13 51580873 51580873 + RNA SNP C C T TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 13 51580873 51580873 C T SNP GUCY1B2 ENST00000485590 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors GUCY1B2 HGNC ENSG00000123201 33 0 0.00 39 10 20.41 - - - IGKV1-5 0 genome.wustl.edu 37 2 89247057 89247057 + Missense_Mutation SNP C C T TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 2 89247057 89247057 C T SNP IGKV1-5 ENST00000496168 human ensembl 69_37n -1 known missense c.113 p.G38E 0.936 pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGKV1-5 HGNC ENSG00000243466 106 0 0.00 58 13 18.31 - - - LGALS13 0 genome.wustl.edu 37 19 40095975 40095975 + Missense_Mutation SNP G G A TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 19 40095975 40095975 G A SNP LGALS13 ENST00000221797 human ensembl 69_37n +1 known missense c.250 p.E84K 0.024 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD - no_errors LGALS13 HGNC ENSG00000105198 70 0 0.00 66 22 25.00 - - - LPP 0 genome.wustl.edu 37 3 188202440 188202440 + Missense_Mutation SNP C C G TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 3 188202440 188202440 C G SNP LPP ENST00000312675 human ensembl 69_37n +1 known missense c.254 p.S85C 0.951 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LPP HGNC ENSG00000145012 76 0 0.00 91 13 12.50 - - - MIR548N 0 genome.wustl.edu 37 7 34980439 34980439 + RNA SNP A A C TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 7 34980439 34980439 A C SNP MIR548N ENST00000408742 human ensembl 69_37n -1 known rna NULL NULL 0.002 - - - no_errors MIR548N HGNC ENSG00000221669 26 0 0.00 20 12 37.50 - - - MTM1 0 genome.wustl.edu 37 X 149787533 149787533 + Missense_Mutation SNP C C A TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf X 149787533 149787533 C A SNP MTM1 ENST00000370396 human ensembl 69_37n +1 known missense c.365 p.A122D 0.999 NULL pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase - no_errors MTM1 HGNC ENSG00000171100 59 0 0.00 73 11 13.10 - - - MUC5B 0 genome.wustl.edu 37 11 1266561 1266561 + Silent SNP G G A TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 11 1266561 1266561 G A SNP MUC5B ENST00000447027 human ensembl 69_37n +1 known silent c.8460 p.R2820 0.000 NULL pfam_VWF_type-D,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_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 87 0 0.00 63 11 14.86 - - - NSD1 0 genome.wustl.edu 37 5 176637364 176637364 + Missense_Mutation SNP G G A TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 5 176637364 176637364 G A SNP NSD1 ENST00000439151 human ensembl 69_37n +1 known missense c.1964 p.S655N 1.000 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 42 0 0.00 28 19 40.43 - - - OR4C15 0 genome.wustl.edu 37 11 55322874 55322874 + Missense_Mutation SNP G G T TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 11 55322874 55322874 G T SNP OR4C15 ENST00000314644 human ensembl 69_37n +1 known missense c.1092 p.E364D 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 25 0 0.00 40 9 18.37 - - - OR5T1 0 genome.wustl.edu 37 11 56043960 56043960 + Missense_Mutation SNP T T A TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 11 56043960 56043960 T A SNP OR5T1 ENST00000313033 human ensembl 69_37n +1 known missense c.846 p.N282K 0.023 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5T1 HGNC ENSG00000181698 64 0 0.00 65 23 26.14 - - - OSBPL10 0 genome.wustl.edu 37 3 31725409 31725409 + Missense_Mutation SNP G G A TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 3 31725409 31725409 G A SNP OSBPL10 ENST00000429492 human ensembl 69_37n -1 putative missense c.749 p.P250L 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region OSBPL10 HGNC ENSG00000144645 40 0 0.00 46 17 26.98 - - - OTUD7A 0 genome.wustl.edu 37 15 31776558 31776558 + Missense_Mutation SNP C C T TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 15 31776558 31776558 C T SNP OTUD7A ENST00000382902 human ensembl 69_37n -1 known missense c.1741 p.E581K 1.000 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7A HGNC ENSG00000169918 28 0 0.00 15 5 25.00 - - - PCBP3 0 genome.wustl.edu 37 21 47349884 47349884 + Silent SNP C C T TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 21 47349884 47349884 C T SNP PCBP3 ENST00000400314 human ensembl 69_37n +1 known silent c.771 p.L257 1.000 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP3 HGNC ENSG00000183570 60 0 0.00 60 9 13.04 - - - PCCB 0 genome.wustl.edu 37 3 135974724 135974724 + Missense_Mutation SNP C C T TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 3 135974724 135974724 C T SNP PCCB ENST00000462542 human ensembl 69_37n +1 putative missense c.77 p.S26L 1.000 pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C,prints_Acetyl_CoA_COase_Trfase_b_su - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PCCB HGNC ENSG00000114054 71 0 0.00 66 9 12.00 - - - PCLO 0 genome.wustl.edu 37 7 82579110 82579110 + Silent SNP A A T TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 7 82579110 82579110 A T SNP PCLO ENST00000333891 human ensembl 69_37n -1 known silent c.10794 p.I3598 0.195 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 69 0 0.00 70 12 14.63 - - - PDE10A 0 genome.wustl.edu 37 6 165846532 165846532 + Missense_Mutation SNP C C A TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 6 165846532 165846532 C A SNP PDE10A ENST00000539869 human ensembl 69_37n -1 known missense c.623 p.G208V 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC ENSG00000112541 39 0 0.00 48 7 12.73 - - - PDZRN4 0 genome.wustl.edu 37 12 41967119 41967119 + Silent SNP C C T TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 12 41967119 41967119 C T SNP PDZRN4 ENST00000402685 human ensembl 69_37n +1 known silent c.2538 p.H846 0.768 NULL pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 53 0 0.00 29 14 32.56 - - - PPARD 0 genome.wustl.edu 37 6 35393844 35393844 + Silent SNP G G A TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 6 35393844 35393844 G A SNP PPARD ENST00000311565 human ensembl 69_37n +1 known silent c.1314 p.K438 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_1Cnucl_rcpt_B,prints_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A - no_errors PPARD HGNC ENSG00000112033 20 0 0.00 34 9 20.93 - - - PTEN 0 genome.wustl.edu 37 10 89692920 89692920 + Missense_Mutation SNP T T A TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 10 89692920 89692920 T A SNP PTEN ENST00000371953 human ensembl 69_37n +1 known missense c.404 p.I135K 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 57 0 0.00 51 9 15.00 - - - REC8 0 genome.wustl.edu 37 14 24649088 24649088 + Missense_Mutation SNP G G A TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 14 24649088 24649088 G A SNP REC8 ENST00000311457 human ensembl 69_37n +1 known missense c.1531 p.A511T 0.056 pfam_Rad21/Rec8_C_eu pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu - no_errors REC8 HGNC ENSG00000100918 38 0 0.00 40 11 21.57 - - - RNF24 0 genome.wustl.edu 37 20 3944669 3944669 + Missense_Mutation SNP G G A TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 20 3944669 3944669 G A SNP RNF24 ENST00000432261 human ensembl 69_37n -1 known missense c.59 p.S20L 0.998 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF24 HGNC ENSG00000101236 34 0 0.00 38 19 33.33 - - - ROCK1 0 genome.wustl.edu 37 18 18534990 18534990 + Missense_Mutation SNP C C T TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 18 18534990 18534990 C T SNP ROCK1 ENST00000399799 human ensembl 69_37n -1 known missense c.3607 p.E1203K 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pirsf_Rho-assoc_coiled-coil_kinase,pfscan_Pleckstrin_homology pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors ROCK1 HGNC ENSG00000067900 85 0 0.00 81 15 15.62 - - - SCN1A 0 genome.wustl.edu 37 2 166912953 166912953 + Missense_Mutation SNP C C T TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 2 166912953 166912953 C T SNP SCN1A ENST00000303395 human ensembl 69_37n -1 known missense c.441 p.M147I 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 84 0 0.00 61 13 17.57 - - - SEMA4C 0 genome.wustl.edu 37 2 97531630 97531630 + Missense_Mutation SNP A A G TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 2 97531630 97531630 A G SNP SEMA4C ENST00000305476 human ensembl 69_37n -1 known missense c.295 p.C99R 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA4C HGNC ENSG00000168758 71 0 0.00 61 14 18.42 - - - SNRPN 0 genome.wustl.edu 37 15 25223448 25223448 + Missense_Mutation SNP C C T TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 15 25223448 25223448 C T SNP SNRPN ENST00000444203 human ensembl 69_37n +1 known missense c.680 p.P227L 1.000 pirsf_snRNP-assoc_SmB/SmN pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN - no_errors SNRPN HGNC ENSG00000128739 55 0 0.00 74 18 19.57 - - - SPAG5 0 genome.wustl.edu 37 17 26912598 26912598 + Missense_Mutation SNP G G A TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 17 26912598 26912598 G A SNP SPAG5 ENST00000321765 human ensembl 69_37n -1 known missense c.1814 p.S605F 0.037 NULL NULL - no_errors SPAG5 HGNC ENSG00000076382 50 0 0.00 56 7 11.11 - - - SRSF7 0 genome.wustl.edu 37 2 38976661 38976664 + Frame_Shift_Del DEL AAAT AAAT - TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 AAAT AAAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 2 38976661 38976664 AAAT - DEL SRSF7 ENST00000431066 human ensembl 69_37n -1 known frame_shift_del c.396_393 p.L131fs 0.697:0.697:0.677:0.713 NULL pfam_RRM_dom,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_RRM_dom,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors SRSF7 HGNC ENSG00000115875 24 0 0.00 28 10 26.32 - - - TEKT5 0 genome.wustl.edu 37 16 10788509 10788509 + Silent SNP C C T TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 16 10788509 10788509 C T SNP TEKT5 ENST00000283025 human ensembl 69_37n -1 known silent c.222 p.P74 0.027 NULL pfam_Tektin,prints_Tektin - no_errors TEKT5 HGNC ENSG00000153060 71 0 0.00 38 13 25.49 - - - TP53 0 genome.wustl.edu 37 17 7578191 7578191 + Missense_Mutation SNP A A G TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 17 7578191 7578191 A G SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.658 p.Y220H 0.998 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 70 0 0.00 42 19 31.15 - - - UBE2F 0 genome.wustl.edu 37 2 238933990 238933990 + Missense_Mutation SNP A A C TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 2 238933990 238933990 A C SNP UBE2F ENST00000272930 human ensembl 69_37n +1 known missense c.290 p.K97T 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2F HGNC ENSG00000184182 92 0 0.00 69 15 17.86 - - - VEPH1 0 genome.wustl.edu 37 3 156979018 156979018 + Missense_Mutation SNP C C G TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 3 156979018 156979018 C G SNP VEPH1 ENST00000362010 human ensembl 69_37n -1 known missense c.2407 p.D803H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors VEPH1 HGNC ENSG00000197415 59 0 0.00 92 14 13.21 - - - ZNF470 0 genome.wustl.edu 37 19 57089783 57089783 + Silent SNP C C A TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36d1a85e-a09b-4537-86e0-eaf1eb03aed8 5f0452c9-2310-4118-b895-cf8aa79f1ccf 19 57089783 57089783 C A SNP ZNF470 ENST00000330619 human ensembl 69_37n +1 known silent c.1986 p.A662 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF470 HGNC ENSG00000197016 55 0 0.00 56 10 15.15 - - -