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 A2MP1 0 genome.wustl.edu 37 12 9413853 9413853 + RNA SNP T T C TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 12 9413853 9413853 T C SNP A2MP1 ENST00000544183 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors A2MP1 HGNC ENSG00000256069 45 0 0.00 42 6 12.50 - - - A2MP1 0 genome.wustl.edu 37 12 9413867 9413867 + RNA SNP A A G TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 12 9413867 9413867 A G SNP A2MP1 ENST00000544183 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors A2MP1 HGNC ENSG00000256069 43 0 0.00 42 6 12.50 - - - ABCA11P 0 genome.wustl.edu 37 4 420298 420299 + RNA DEL AC AC - TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 4 420298 420299 AC - DEL ABCA11P ENST00000451020 human ensembl 69_37n -1 known rna NULL NULL 1.000:1.000 - - - no_errors ABCA11P HGNC ENSG00000251595 76 0 0.00 75 10 11.36 - - - ACOT11 0 genome.wustl.edu 37 1 55067005 55067005 + Silent SNP C C A TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 1 55067005 55067005 C A SNP ACOT11 ENST00000371316 human ensembl 69_37n +1 known silent c.948 p.I316 1.000 NULL pfam_START_lipid-bd,pfam_Thioestr_supf,smart_START_lipid-bd,pfscan_START_lipid-bd - no_errors ACOT11 HGNC ENSG00000162390 83 0 0.00 66 12 15.38 - - - ALOX15B 0 genome.wustl.edu 37 17 7948280 7948281 + Frame_Shift_Del DEL AG AG - TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 17 7948280 7948281 AG - DEL ALOX15B ENST00000380183 human ensembl 69_37n +1 known frame_shift_del c.810_811 p.L272fs 0.000:0.002 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX15B HGNC ENSG00000179593 162 0 0.00 197 33 14.04 - - - ARHGAP35 0 genome.wustl.edu 37 19 47440520 47440520 + Splice_Site SNP G G A TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 19 47440520 47440520 G A SNP ARHGAP35 ENST00000404338 human ensembl 69_37n +1 known splice_site c.3682-1 e2-1 1.000 - - - no_errors ARHGAP35 HGNC ENSG00000160007 66 0 0.00 76 18 19.15 - - - ARHGEF7 0 genome.wustl.edu 37 13 111938540 111938540 + Missense_Mutation SNP G G T TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 13 111938540 111938540 G T SNP ARHGEF7 ENST00000375741 human ensembl 69_37n +1 known missense c.2060 p.R687L 1.000 NULL pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,prints_SH3_domain,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF7 HGNC ENSG00000102606 43 0 0.00 46 24 34.29 - - - ASB4 0 genome.wustl.edu 37 7 95157289 95157289 + Missense_Mutation SNP T T C TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 7 95157289 95157289 T C SNP ASB4 ENST00000325885 human ensembl 69_37n +1 known missense c.652 p.W218R 1.000 pfam_Ankyrin_rpt,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 - no_errors ASB4 HGNC ENSG00000005981 44 0 0.00 82 12 12.77 - - - ATN1 0 genome.wustl.edu 37 12 7050171 7050171 + Missense_Mutation SNP C C T TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 12 7050171 7050171 C T SNP ATN1 ENST00000356654 human ensembl 69_37n +1 known missense c.3343 p.R1115C 1.000 pfam_Atrophin-like,prints_Atrophin-1 pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 78 0 0.00 108 13 10.74 - - - BAZ2B 0 genome.wustl.edu 37 2 160318673 160318673 + RNA DEL A A - TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 2 160318673 160318673 A - DEL BAZ2B ENST00000483316 human ensembl 69_37n -1 known rna NULL NULL 0.007 - - - no_errors BAZ2B HGNC ENSG00000123636 18 0 0.00 9 4 28.57 - - - BLM 0 genome.wustl.edu 37 15 91304486 91304486 + Splice_Site SNP G G T TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 15 91304486 91304486 G T SNP BLM ENST00000355112 human ensembl 69_37n +1 known splice_site c.1882+1 e6+1 1.000 - - - no_errors BLM HGNC ENSG00000197299 18 0 0.00 31 5 13.89 - - - C1orf63 0 genome.wustl.edu 37 1 25572984 25572985 + Frame_Shift_Del DEL TC TC - TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 1 25572984 25572985 TC - DEL C1orf63 ENST00000417642 human ensembl 69_37n -1 known frame_shift_del c.450_449 p.R150fs 0.009:0.020 NULL NULL - no_errors C1orf63 HGNC ENSG00000117616 65 0 0.00 75 9 10.71 - - - C21orf2 0 genome.wustl.edu 37 21 45750001 45750001 + RNA SNP G G C TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 21 45750001 45750001 G C SNP C21orf2 ENST00000470196 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors C21orf2 HGNC ENSG00000160226 25 0 0.00 29 6 17.14 - - - CALD1 0 genome.wustl.edu 37 7 134644791 134644791 + Missense_Mutation SNP C C G TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 7 134644791 134644791 C G SNP CALD1 ENST00000361388 human ensembl 69_37n +1 known missense c.1441 p.R481G 1.000 pfam_Caldesmon_LSP,prints_Caldesmon pfam_Caldesmon_LSP,prints_Caldesmon - no_errors CALD1 HGNC ENSG00000122786 53 0 0.00 81 11 11.96 - - - CAMK2B 0 genome.wustl.edu 37 7 44260459 44260459 + Missense_Mutation SNP C C T TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 7 44260459 44260459 C T SNP CAMK2B ENST00000395749 human ensembl 69_37n -1 known missense c.1639 p.E547K 0.999 pfam_Ca/CaM-dep_prot_kinase-assoc pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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 CAMK2B HGNC ENSG00000058404 103 0 0.00 109 38 25.85 - - - CEP120 0 genome.wustl.edu 37 5 122748104 122748104 + Missense_Mutation SNP C C T TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 5 122748104 122748104 C T SNP CEP120 ENST00000306467 human ensembl 69_37n -1 known missense c.452 p.R151Q 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_DUF3668,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors CEP120 HGNC ENSG00000168944 51 0 0.00 45 12 21.05 - - - CHKA 0 genome.wustl.edu 37 11 67864505 67864505 + Missense_Mutation SNP T T C TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 11 67864505 67864505 T C SNP CHKA ENST00000265689 human ensembl 69_37n -1 known missense c.443 p.Y148C 0.999 pfam_Choline/ethanolamine_kinase,superfamily_Kinase-like_dom pfam_Choline/ethanolamine_kinase,pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom - no_errors CHKA HGNC ENSG00000110721 30 0 0.00 17 10 37.04 - - - CHTF18 0 genome.wustl.edu 37 16 845727 845727 + Missense_Mutation SNP C C A TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 16 845727 845727 C A SNP CHTF18 ENST00000317063 human ensembl 69_37n +1 known missense c.2845 p.L949M 0.692 NULL pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase - no_errors CHTF18 HGNC ENSG00000127586 46 0 0.00 52 21 28.77 - - - CLUL1 0 genome.wustl.edu 37 18 596992 596992 + RNA SNP T T G TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 18 596992 596992 T G SNP CLUL1 ENST00000579912 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors CLUL1 HGNC ENSG00000079101 15 0 0.00 10 4 28.57 - - - COA1 0 genome.wustl.edu 37 7 43687050 43687050 + RNA SNP A A C TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 7 43687050 43687050 A C SNP COA1 ENST00000459713 human ensembl 69_37n -1 putative rna NULL NULL 0.577 - - - no_errors COA1 HGNC ENSG00000106603 42 0 0.00 60 10 14.29 - - - COL7A1 0 genome.wustl.edu 37 3 48617226 48617226 + Silent SNP T T G TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 3 48617226 48617226 T G SNP COL7A1 ENST00000328333 human ensembl 69_37n -1 known silent c.5146 p.R1716 0.036 NULL pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 32 0 0.00 39 10 20.41 - - - CROCC 0 genome.wustl.edu 37 1 17250935 17250935 + Silent SNP C C T TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 1 17250935 17250935 C T SNP CROCC ENST00000375541 human ensembl 69_37n +1 known silent c.312 p.R104 0.121 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC ENSG00000058453 58 0 0.00 68 19 21.84 - - - CUL5 0 genome.wustl.edu 37 11 107965648 107965648 + Silent SNP A A G TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 11 107965648 107965648 A G SNP CUL5 ENST00000393094 human ensembl 69_37n +1 known silent c.1677 p.E559 1.000 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL5 HGNC ENSG00000166266 60 0 0.00 55 13 19.12 - - - DENND1A 0 genome.wustl.edu 37 9 126392666 126392666 + Silent SNP C C T TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 9 126392666 126392666 C T SNP DENND1A ENST00000394219 human ensembl 69_37n -1 known silent c.612 p.L204 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1A HGNC ENSG00000119522 16 0 0.00 15 5 25.00 - - - DLG5 0 genome.wustl.edu 37 10 79552005 79552005 + RNA SNP G G T TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 10 79552005 79552005 G T SNP DLG5 ENST00000463362 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors DLG5 HGNC ENSG00000151208 29 0 0.00 15 10 40.00 - - - DYNC2H1 0 genome.wustl.edu 37 11 103006345 103006346 + Frame_Shift_Del DEL AT AT - TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 AT AT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 11 103006345 103006346 AT - DEL DYNC2H1 ENST00000398093 human ensembl 69_37n +1 known frame_shift_del c.2327_2328 p.I777fs 0.998:0.918 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 41 0 0.00 40 13 24.53 - - - EFNA4 0 genome.wustl.edu 37 1 155039911 155039911 + Missense_Mutation SNP A A T TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 1 155039911 155039911 A T SNP EFNA4 ENST00000427683 human ensembl 69_37n +1 known missense c.464 p.E155V 1.000 pfam_Ephrin pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNA4 HGNC ENSG00000243364 101 0 0.00 90 14 13.46 - - - FAM116A 0 genome.wustl.edu 37 3 57627445 57627445 + Missense_Mutation SNP G G A TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 3 57627445 57627445 G A SNP FAM116A ENST00000311128 human ensembl 69_37n -1 known missense c.1067 p.P356L 1.000 pfam_Afi1_N,pfam_DENN_dom pfam_Afi1_N,pfam_Secretory_pathway_prot_Avl9,pfam_DENN_dom - no_errors FAM116A HGNC ENSG00000174839 49 0 0.00 60 7 10.45 - - - FAM194A 0 genome.wustl.edu 37 3 150421606 150421606 + Missense_Mutation SNP T T A TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 3 150421606 150421606 T A SNP FAM194A ENST00000295910 human ensembl 69_37n -1 known missense c.80 p.E27V 0.000 NULL NULL - no_errors FAM194A HGNC ENSG00000163645 33 0 0.00 37 12 24.00 - - - FAM75D1 0 genome.wustl.edu 37 9 84609281 84609281 + Missense_Mutation SNP C C A TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 9 84609281 84609281 C A SNP FAM75D1 ENST00000344803 human ensembl 69_37n +1 known missense c.3896 p.P1299H 0.000 NULL NULL - no_errors FAM75D1 HGNC ENSG00000214929 41 0 0.00 55 15 21.43 - - - FLYWCH1 0 genome.wustl.edu 37 16 2990083 2990083 + Missense_Mutation SNP C C A TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 16 2990083 2990083 C A SNP FLYWCH1 ENST00000399667 human ensembl 69_37n +1 known missense c.2248 p.Q750K 0.146 NULL pfam_Znf_FLYWCH - no_errors FLYWCH1 HGNC ENSG00000059122 59 0 0.00 71 9 11.25 - - - FMN2 0 genome.wustl.edu 37 1 240371079 240371079 + Silent SNP T T G TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 1 240371079 240371079 T G SNP FMN2 ENST00000319653 human ensembl 69_37n +1 known silent c.2967 p.P989 0.357 pfam_Formin_homology_1,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 8 0 0.00 10 8 44.44 - - - FREM3 0 genome.wustl.edu 37 4 144545279 144545279 + Missense_Mutation SNP T T G TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 4 144545279 144545279 T G SNP FREM3 ENST00000329798 human ensembl 69_37n -1 putative missense c.5635 p.I1879L 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 69 0 0.00 87 13 13.00 - - - GHITM 0 genome.wustl.edu 37 10 85902445 85902445 + Missense_Mutation SNP G G A TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 10 85902445 85902445 G A SNP GHITM ENST00000372134 human ensembl 69_37n +1 known missense c.164 p.R55H 1.000 NULL pfam_Bax_inhibitor_1-related - no_errors GHITM HGNC ENSG00000165678 60 0 0.00 52 18 25.71 - - - GOLGA8A 0 genome.wustl.edu 37 15 34674048 34674048 + Missense_Mutation SNP G G A TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 15 34674048 34674048 G A SNP GOLGA8A ENST00000432566 human ensembl 69_37n -1 known missense c.1553 p.A518V 0.999 NULL NULL - no_errors GOLGA8A HGNC ENSG00000175265 8 0 0.00 2 5 71.43 - - - GPR179 0 genome.wustl.edu 37 17 36483415 36483415 + Missense_Mutation SNP T T C TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 17 36483415 36483415 T C SNP GPR179 ENST00000342292 human ensembl 69_37n -1 known missense c.6037 p.S2013G 0.000 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 55 0 0.00 57 29 33.72 - - - GPS2 0 genome.wustl.edu 37 17 7216885 7216885 + Splice_Site SNP A A G TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 17 7216885 7216885 A G SNP GPS2 ENST00000380728 human ensembl 69_37n -1 known splice_site c.634+2 e6+2 1.000 - - - no_errors GPS2 HGNC ENSG00000132522 30 0 0 35 4 10.26 - - - GPT2 0 genome.wustl.edu 37 16 46962906 46962906 + Silent SNP G G C TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 16 46962906 46962906 G C SNP GPT2 ENST00000340124 human ensembl 69_37n +1 known silent c.1569 p.A523 0.000 NULL pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors GPT2 HGNC ENSG00000166123 38 0 0.00 45 20 30.77 - - - HERC1 0 genome.wustl.edu 37 15 63964739 63964739 + Silent SNP C C T TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 15 63964739 63964739 C T SNP HERC1 ENST00000443617 human ensembl 69_37n -1 known silent c.8001 p.V2667 0.998 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 73 0 0.00 96 17 15.04 - - - KCTD20 0 genome.wustl.edu 37 6 36454815 36454815 + Missense_Mutation SNP C C G TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 6 36454815 36454815 C G SNP KCTD20 ENST00000373731 human ensembl 69_37n +1 known missense c.1123 p.L375V 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD20 HGNC ENSG00000112078 38 0 0.00 35 7 16.67 - - - KDM3A 0 genome.wustl.edu 37 2 86693921 86693921 + Silent SNP T T C TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 2 86693921 86693921 T C SNP KDM3A ENST00000312912 human ensembl 69_37n +1 known silent c.1434 p.A478 0.010 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 38 0 0.00 55 12 17.91 - - - KIAA1210 0 genome.wustl.edu 37 X 118242398 118242398 + Missense_Mutation SNP T T C TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 X 118242398 118242398 T C SNP KIAA1210 ENST00000402510 human ensembl 69_37n -1 known missense c.814 p.S272G 0.001 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 52 0 0.00 56 14 20.00 - - - KIAA1324 0 genome.wustl.edu 37 1 109737206 109737206 + Missense_Mutation SNP G G C TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 1 109737206 109737206 G C SNP KIAA1324 ENST00000369939 human ensembl 69_37n +1 known missense c.2111 p.C704S 1.000 superfamily_Man6P_isomerase_rcpt-bd_dom superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt - no_errors KIAA1324 HGNC ENSG00000116299 27 0 0.00 26 5 16.13 - - - KIF26A 0 genome.wustl.edu 37 14 104641938 104641938 + Missense_Mutation SNP A A C TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 14 104641938 104641938 A C SNP KIF26A ENST00000423312 human ensembl 69_37n +1 known missense c.2813 p.K938T 0.976 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 92 0 0.00 56 15 21.13 - - - KLF6 0 genome.wustl.edu 37 10 3824189 3824190 + Frame_Shift_Del DEL TC TC - TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 10 3824189 3824190 TC - DEL KLF6 ENST00000497571 human ensembl 69_37n -1 known frame_shift_del c.320_319 p.D107fs 1.000:1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF6 HGNC ENSG00000067082 58 0 0.00 56 16 22.22 - - - KRT2 0 genome.wustl.edu 37 12 53042059 53042059 + Missense_Mutation SNP G G T TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 12 53042059 53042059 G T SNP KRT2 ENST00000309680 human ensembl 69_37n -1 known missense c.1020 p.S340R 1.000 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT2 HGNC ENSG00000172867 131 0 0.00 141 21 12.96 - - - LINC00283 0 genome.wustl.edu 37 13 103395563 103395564 + RNA DEL TT TT - TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 13 103395563 103395564 TT - DEL LINC00283 ENST00000430111 human ensembl 69_37n +1 known rna NULL NULL 0.000:0.000 - - - no_errors LINC00283 HGNC ENSG00000231633 111 0 0.00 119 28 18.79 - - - LRP2 0 genome.wustl.edu 37 2 170003328 170003328 + Missense_Mutation SNP G G C TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 2 170003328 170003328 G C SNP LRP2 ENST00000263816 human ensembl 69_37n -1 known missense c.12732 p.I4244M 1.000 superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,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 ENSG00000081479 87 0 0.00 106 34 24.29 - - - LRRC33 0 genome.wustl.edu 37 3 196387261 196387261 + Silent SNP C C A TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 3 196387261 196387261 C A SNP LRRC33 ENST00000328557 human ensembl 69_37n +1 known silent c.747 p.A249 0.930 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC33 HGNC ENSG00000174004 86 0 0.00 113 17 13.08 - - - LTF 0 genome.wustl.edu 37 3 46496886 46496886 + Frame_Shift_Del DEL T T - TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 3 46496886 46496886 T - DEL LTF ENST00000231751 human ensembl 69_37n -1 known frame_shift_del c.546 p.G183fs 0.000 pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin,prints_Peptidase_S60 - no_errors LTF HGNC ENSG00000012223 93 0 0.00 114 32 21.62 - - - MRE11A 0 genome.wustl.edu 37 11 94194110 94194110 + Missense_Mutation SNP C C T TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 11 94194110 94194110 C T SNP MRE11A ENST00000323929 human ensembl 69_37n -1 known missense c.1318 p.A440T 0.995 pfam_Mre11_DNA-bd,pirsf_DNA_repair_Mre11 pfam_Mre11_DNA-bd,pfam_Metallo_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11 - no_errors MRE11A HGNC ENSG00000020922 50 0 0.00 60 17 22.08 - - - MTSS1L 0 genome.wustl.edu 37 16 70713720 70713720 + Missense_Mutation SNP C C T TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 16 70713720 70713720 C T SNP MTSS1L ENST00000576338 human ensembl 69_37n -1 novel missense c.116 p.R39Q 0.370 pfam_IRSp53/MIM_homology_IMD pfam_IRSp53/MIM_homology_IMD - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MTSS1L HGNC ENSG00000132613 58 0 0.00 81 17 17.35 - - - MUC16 0 genome.wustl.edu 37 19 9071187 9071187 + Missense_Mutation SNP G G A TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 19 9071187 9071187 G A SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.16259 p.T5420I 0.001 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 179 0 0.00 195 39 16.67 - - - MUC16 0 genome.wustl.edu 37 19 9072753 9072753 + Missense_Mutation SNP C C A TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 19 9072753 9072753 C A SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.14693 p.R4898M 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 114 0 0.00 107 38 26.21 - - - MXD3 0 genome.wustl.edu 37 5 176734175 176734175 + Missense_Mutation SNP C C A TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 5 176734175 176734175 C A SNP MXD3 ENST00000427908 human ensembl 69_37n -1 known missense c.527 p.G176V 0.136 NULL pfam_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors MXD3 HGNC ENSG00000213347 47 0 0.00 58 16 21.62 - - - MYH1 0 genome.wustl.edu 37 17 10408575 10408575 + Missense_Mutation SNP C C T TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 17 10408575 10408575 C T SNP MYH1 ENST00000226207 human ensembl 69_37n -1 known missense c.2340 p.M780I 1.000 smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 65 0 0.00 59 31 34.44 - - - NACAP1 0 genome.wustl.edu 37 8 102381722 102381722 + RNA SNP C C A TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 8 102381722 102381722 C A SNP NACAP1 ENST00000419462 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors NACAP1 HGNC ENSG00000228224 88 0 0.00 73 23 23.96 - - - NAP1L1 0 genome.wustl.edu 37 12 76447083 76447084 + Frame_Shift_Del DEL AT AT - TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 AT AT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 12 76447083 76447084 AT - DEL NAP1L1 ENST00000261182 human ensembl 69_37n -1 known frame_shift_del c.818_817 p.I273fs 1.000:1.000 pfam_NAP_family pfam_NAP_family - no_errors NAP1L1 HGNC ENSG00000187109 15 0 0.00 17 17 50.00 - - - NFE2L3 0 genome.wustl.edu 37 7 26224265 26224265 + Missense_Mutation SNP A A G TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 7 26224265 26224265 A G SNP NFE2L3 ENST00000056233 human ensembl 69_37n +1 known missense c.947 p.H316R 0.997 NULL pfam_bZIP_1,pfam_bZIP_Maf,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L3 HGNC ENSG00000050344 51 0 0.00 53 23 30.26 - - - OR51I1 0 genome.wustl.edu 37 11 5462607 5462607 + Missense_Mutation SNP G G T TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 11 5462607 5462607 G T SNP OR51I1 ENST00000380211 human ensembl 69_37n -1 known missense c.138 p.S46R 0.391 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR51I1 HGNC ENSG00000167359 51 0 0.00 53 12 18.46 - - - PARP8 0 genome.wustl.edu 37 5 50090941 50090941 + Missense_Mutation SNP C C T TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 5 50090941 50090941 C T SNP PARP8 ENST00000281631 human ensembl 69_37n +1 known missense c.1118 p.S373L 0.753 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP8 HGNC ENSG00000151883 51 0 0.00 71 19 21.11 - - - PHB2 0 genome.wustl.edu 37 12 7075640 7075640 + Missense_Mutation SNP G G A TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 12 7075640 7075640 G A SNP PHB2 ENST00000546111 human ensembl 69_37n -1 putative missense c.236 p.S79F 0.946 NULL NULL - no_errors PHB2 HGNC ENSG00000215021 113 0 0.00 106 55 34.16 - - - PHF11 0 genome.wustl.edu 37 13 50098311 50098311 + Nonsense_Mutation SNP C C G TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 13 50098311 50098311 C G SNP PHF11 ENST00000378319 human ensembl 69_37n +1 known nonsense c.728 p.S243* 0.001 NULL superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF11 HGNC ENSG00000136147 31 0 0.00 43 12 21.82 - - - PI4KB 0 genome.wustl.edu 37 1 151274425 151274425 + Silent SNP G G T TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 1 151274425 151274425 G T SNP PI4KB ENST00000271657 human ensembl 69_37n -1 known silent c.1680 p.S560 1.000 superfamily_Kinase-like_dom pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KB HGNC ENSG00000143393 36 0 0.00 49 6 10.91 - - - PKP4 0 genome.wustl.edu 37 2 159499112 159499112 + Missense_Mutation SNP G G T TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 2 159499112 159499112 G T SNP PKP4 ENST00000389759 human ensembl 69_37n +1 known missense c.1810 p.D604Y 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP4 HGNC ENSG00000144283 72 0 0.00 97 33 25.38 - - - PLAC1 0 genome.wustl.edu 37 X 133699960 133699960 + RNA SNP T T G TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 X 133699960 133699960 T G SNP PLAC1 ENST00000476971 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors PLAC1 HGNC ENSG00000170965 30 0 0.00 30 4 11.76 - - - POLR3C 0 genome.wustl.edu 37 1 145608455 145608455 + Missense_Mutation SNP T T C TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 1 145608455 145608455 T C SNP POLR3C ENST00000334163 human ensembl 69_37n -1 known missense c.352 p.M118V 1.000 NULL pfam_RNA_pol_III_Rpc82_C,pfam_RNA_pol_III_RPC82-rel_HTH - no_errors POLR3C HGNC ENSG00000186141 58 0 0.00 46 35 43.21 - - - PPM1B 0 genome.wustl.edu 37 2 44396108 44396108 + RNA SNP C C T TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 2 44396108 44396108 C T SNP PPM1B ENST00000378540 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors PPM1B HGNC ENSG00000138032 161 0 0.00 235 71 23.20 - - - PPTC7 0 genome.wustl.edu 37 12 110983717 110983717 + Silent SNP G G C TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 12 110983717 110983717 G C SNP PPTC7 ENST00000354300 human ensembl 69_37n -1 known silent c.570 p.P190 0.201 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPTC7 HGNC ENSG00000196850 80 0 0.00 70 16 18.60 - - - PTPLAD1 0 genome.wustl.edu 37 15 65849103 65849103 + Missense_Mutation SNP G G T TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 15 65849103 65849103 G T SNP PTPLAD1 ENST00000261875 human ensembl 69_37n +1 known missense c.231 p.Q77H 1.000 pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain pfam_Tyr_Pase-like_PTPLA,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain - no_errors PTPLAD1 HGNC ENSG00000074696 104 0 0.00 85 13 13.27 - - - RFPL4B 0 genome.wustl.edu 37 6 112671398 112671398 + Missense_Mutation SNP G G A TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 6 112671398 112671398 G A SNP RFPL4B ENST00000441065 human ensembl 69_37n +1 known missense c.488 p.C163Y 0.003 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL4B HGNC ENSG00000251258 28 0 0.00 34 16 32.00 - - - RFXANK 0 genome.wustl.edu 37 19 19307824 19307824 + Missense_Mutation SNP C C A TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 19 19307824 19307824 C A SNP RFXANK ENST00000303088 human ensembl 69_37n +1 known missense c.240 p.N80K 0.209 pirsf_DNA-bd_RFXANK pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_DNA-bd_RFXANK,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors RFXANK HGNC ENSG00000064490 48 0 0.00 30 17 36.17 - - - RNA5SP392 0 genome.wustl.edu 37 15 40623824 40623824 + RNA SNP A A G TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 15 40623824 40623824 A G SNP RNA5SP392 ENST00000516905 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors RNA5SP392 HGNC ENSG00000252714 30 0 0.00 20 4 16.67 - - - SF3B14 0 genome.wustl.edu 37 2 24291245 24291245 + Silent SNP C C G TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 2 24291245 24291245 C G SNP SF3B14 ENST00000233468 human ensembl 69_37n -1 known silent c.234 p.S78 0.972 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors AC008073.5 Clone_based_vega_gene ENSG00000115128 50 0 0.00 58 17 22.67 - - - SLC38A10 0 genome.wustl.edu 37 17 79220047 79220047 + Missense_Mutation SNP T T G TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 17 79220047 79220047 T G SNP SLC38A10 ENST00000374759 human ensembl 69_37n -1 known missense c.2669 p.Q890P 0.008 NULL pfam_AA_transpt_TM - no_errors SLC38A10 HGNC ENSG00000157637 410 0 0.00 200 55 21.57 - - - SLC9A3R1 0 genome.wustl.edu 37 17 72745097 72745097 + Missense_Mutation SNP T T C TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 17 72745097 72745097 T C SNP SLC9A3R1 ENST00000262613 human ensembl 69_37n +1 known missense c.112 p.Y38H 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_NaH_exchngr_reg_CF_NHE-RF,pfscan_PDZ pfam_PDZ,pfam_EBP50_C-term,superfamily_PDZ,smart_PDZ,pirsf_NaH_exchngr_reg_CF_NHE-RF,pfscan_PDZ - no_errors SLC9A3R1 HGNC ENSG00000109062 16 0 0.00 12 8 40.00 - - - SLTM 0 genome.wustl.edu 37 15 59191708 59191708 + Missense_Mutation SNP T T C TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 15 59191708 59191708 T C SNP SLTM ENST00000380516 human ensembl 69_37n -1 known missense c.1018 p.K340E 1.000 NULL pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom - no_errors SLTM HGNC ENSG00000137776 51 0 0.00 45 13 22.41 - - - SMC4 0 genome.wustl.edu 37 3 160132222 160132222 + Missense_Mutation SNP G G A TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 3 160132222 160132222 G A SNP SMC4 ENST00000344722 human ensembl 69_37n +1 known missense c.1189 p.D397N 1.000 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 27 0 0.00 17 4 19.05 - - - SRSF4 0 genome.wustl.edu 37 1 29476663 29476663 + Missense_Mutation SNP C C G TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 1 29476663 29476663 C G SNP SRSF4 ENST00000373795 human ensembl 69_37n -1 known missense c.620 p.R207P 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF4 HGNC ENSG00000116350 49 0 0.00 68 20 22.73 - - - STAM 0 genome.wustl.edu 37 10 17730056 17730056 + Missense_Mutation SNP G G A TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 10 17730056 17730056 G A SNP STAM ENST00000377524 human ensembl 69_37n +1 known missense c.328 p.A110T 1.000 pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pfscan_VHS pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox - no_errors STAM HGNC ENSG00000136738 34 0 0.00 42 7 14.29 - - - TAF7L 0 genome.wustl.edu 37 X 100537337 100537337 + Missense_Mutation SNP T T A TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 X 100537337 100537337 T A SNP TAF7L ENST00000372907 human ensembl 69_37n -1 known missense c.642 p.E214D 0.987 pfam_TAFII55_prot_cons_reg pfam_TAFII55_prot_cons_reg - no_errors TAF7L HGNC ENSG00000102387 107 0 0.00 131 19 12.67 - - - TARDBP 0 genome.wustl.edu 37 1 11076915 11076915 + Missense_Mutation SNP A A G TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 1 11076915 11076915 A G SNP TARDBP ENST00000240185 human ensembl 69_37n +1 known missense c.253 p.M85V 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TARDBP HGNC ENSG00000120948 45 0 0.00 72 24 25.00 - - - TCF4 0 genome.wustl.edu 37 18 53017614 53017614 + Missense_Mutation SNP T T G TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 18 53017614 53017614 T G SNP TCF4 ENST00000398339 human ensembl 69_37n -1 known missense c.831 p.K277N 1.000 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors TCF4 HGNC ENSG00000196628 43 0 0.00 36 10 21.74 - - - TGDS 0 genome.wustl.edu 37 13 95248374 95248374 + Missense_Mutation SNP C C A TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 13 95248374 95248374 C A SNP TGDS ENST00000261296 human ensembl 69_37n -1 known missense c.17 p.W6L 0.000 NULL pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like,pfam_Male_sterile_NAD-bd - no_errors TGDS HGNC ENSG00000088451 51 0 0.00 59 29 32.95 - - - TMEM133 0 genome.wustl.edu 37 11 100863339 100863340 + Frame_Shift_Del DEL TG TG - TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 11 100863339 100863340 TG - DEL TMEM133 ENST00000303130 human ensembl 69_37n +1 known frame_shift_del c.300_301 p.V101fs 0.000:0.000 NULL NULL - no_errors TMEM133 HGNC ENSG00000170647 88 0 0.00 94 14 12.96 - - - TNC 0 genome.wustl.edu 37 9 117825203 117825203 + Silent SNP G G A TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 9 117825203 117825203 G A SNP TNC ENST00000350763 human ensembl 69_37n -1 known silent c.4026 p.V1342 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 71 0 0.00 121 21 14.79 - - - TOM1L1 0 genome.wustl.edu 37 17 53026927 53026927 + Missense_Mutation SNP A A G TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 17 53026927 53026927 A G SNP TOM1L1 ENST00000575882 human ensembl 69_37n +1 known missense c.1231 p.T411A 0.001 pirsf_TOM1 pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1L1 HGNC ENSG00000141198 32 0 0.00 20 9 31.03 - - - TP53 0 genome.wustl.edu 37 17 7579536 7579536 + Nonsense_Mutation SNP C C A TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 17 7579536 7579536 C A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known nonsense c.151 p.E51* 0.001 NULL 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 34 0 0.00 37 20 35.09 - - - TUBA4B 0 genome.wustl.edu 37 2 220118076 220118077 + RNA INS - - GG TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 2 220118076 220118077 - GG INS TUBA4B ENST00000473885 human ensembl 69_37n +1 known rna NULL NULL 0.812:0.000 - - - no_errors TUBA4B HGNC ENSG00000243910 10 0 0.00 9 4 30.77 - - - TUBB8 0 genome.wustl.edu 37 10 93894 93894 + Silent SNP C C A TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 10 93894 93894 C A SNP TUBB8 ENST00000328974 human ensembl 69_37n -1 known silent c.438 p.G146 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB8 HGNC ENSG00000173876 253 0 0.00 300 67 18.26 - - - TXNDC2 0 genome.wustl.edu 37 18 9887913 9887913 + Missense_Mutation SNP G G T TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 18 9887913 9887913 G T SNP TXNDC2 ENST00000306084 human ensembl 69_37n +1 known missense c.1437 p.W479C 0.994 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold - no_errors TXNDC2 HGNC ENSG00000168454 65 0 0.00 85 14 14.14 - - - USP34 0 genome.wustl.edu 37 2 61607496 61607496 + Missense_Mutation SNP C C A TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 2 61607496 61607496 C A SNP USP34 ENST00000398571 human ensembl 69_37n -1 known missense c.822 p.R274S 1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP34 HGNC ENSG00000115464 11 0 0.00 18 5 21.74 - - - VSIG8 0 genome.wustl.edu 37 1 159832270 159832273 + Frame_Shift_Del DEL CAGG CAGG - TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 CAGG CAGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 1 159832270 159832273 CAGG - DEL VSIG8 ENST00000368100 human ensembl 69_37n -1 known frame_shift_del c.42_39 p.C13fs 1.000:1.000:1.000:1.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like - no_errors VSIG8 HGNC ENSG00000243284 98 0 0.00 81 45 35.16 - - - WSCD2 0 genome.wustl.edu 37 12 108634216 108634216 + Missense_Mutation SNP G G A TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 12 108634216 108634216 G A SNP WSCD2 ENST00000261400 human ensembl 69_37n +1 known missense c.1240 p.A414T 0.994 NULL pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD2 HGNC ENSG00000075035 33 0 0.00 51 8 13.56 - - - XRCC6 0 genome.wustl.edu 37 22 42032720 42032720 + Missense_Mutation SNP G G C TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 22 42032720 42032720 G C SNP XRCC6 ENST00000359308 human ensembl 69_37n +1 known missense c.535 p.D179H 1.000 pirsf_DNA_helicase_ATP-dep_Ku70,pfam_Ku_N,tigrfam_DNA_helicase_ATP-dep_Ku70 pirsf_DNA_helicase_ATP-dep_Ku70,pfam_Ku_N,pfam_DNA_helicase_ATP-dep_Ku,pfam_Ku_C,pfam_SAP_DNA-bd,superfamily_SPOC-like,smart_DNA_helicase_ATP-dep_Ku,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd,tigrfam_DNA_helicase_ATP-dep_Ku70 - no_errors XRCC6 HGNC ENSG00000196419 45 0 0.00 43 18 29.51 - - - XRRA1 0 genome.wustl.edu 37 11 74660143 74660143 + RNA SNP G G C TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 11 74660143 74660143 G C SNP XRRA1 ENST00000524430 human ensembl 69_37n -1 known rna NULL NULL 0.794 - - - no_errors XRRA1 HGNC ENSG00000166435 22 0 0.00 34 6 15.00 - - - ZFHX4 0 genome.wustl.edu 37 8 77767800 77767800 + Silent SNP C C T TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 8 77767800 77767800 C T SNP ZFHX4 ENST00000521891 human ensembl 69_37n +1 known silent c.8643 p.D2881 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 25 0 0.00 33 4 10.81 - - - ZNF610 0 genome.wustl.edu 37 19 52857606 52857606 + Missense_Mutation SNP G G A TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 19 52857606 52857606 G A SNP ZNF610 ENST00000327920 human ensembl 69_37n +1 known missense c.293 p.R98K 0.003 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF610 HGNC ENSG00000167554 23 0 0.00 24 6 20.00 - - - ZSCAN1 0 genome.wustl.edu 37 19 58565195 58565195 + Missense_Mutation SNP C C A TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9db7757b-7f31-4a5e-aa19-480a3f63c744 59907891-205d-4fbe-ac2e-98cb412eee76 19 58565195 58565195 C A SNP ZSCAN1 ENST00000282326 human ensembl 69_37n +1 known missense c.1003 p.L335I 0.416 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN1 HGNC ENSG00000152467 69 0 0.00 80 15 15.79 - - -