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 AACS 0 genome.wustl.edu 37 12 125603260 125603261 + Frame_Shift_Del DEL CC CC - TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 CC CC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 12 125603260 125603261 CC - DEL AACS ENST00000316519 human ensembl 69_37n +1 known frame_shift_del c.1070_1071 p.L359fs 1.000:0.999 pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Acac_CoA_synth - no_errors AACS HGNC ENSG00000081760 73 0 0.00 18 2 10.00 - - - AKAP4 0 genome.wustl.edu 37 X 49957345 49957345 + Silent SNP C C T TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 X 49957345 49957345 C T SNP AKAP4 ENST00000358526 human ensembl 69_37n -1 known silent c.2019 p.A673 0.012 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC ENSG00000147081 172 0 0.00 121 89 42.18 - - - ARSE 0 genome.wustl.edu 37 X 2853148 2853148 + Missense_Mutation SNP G G A TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 X 2853148 2853148 G A SNP ARSE ENST00000545496 human ensembl 69_37n -1 known missense c.1570 p.P524S 0.820 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ARSE HGNC ENSG00000157399 137 0 0.00 68 58 46.03 - - - BPHL 0 genome.wustl.edu 37 6 3140669 3140669 + Nonsense_Mutation SNP T T A TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 6 3140669 3140669 T A SNP BPHL ENST00000423798 human ensembl 69_37n +1 putative nonsense c.11 p.L4* 0.793 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region BPHL HGNC ENSG00000137274 53 0 0.00 47 24 33.80 - - - BST2 0 genome.wustl.edu 37 19 17516273 17516273 + Missense_Mutation SNP C C G TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 19 17516273 17516273 C G SNP BST2 ENST00000252593 human ensembl 69_37n -1 known missense c.112 p.G38R 0.000 NULL superfamily_Prefoldin - no_errors BST2 HGNC ENSG00000130303 153 0 0.00 84 45 34.88 - - - CIAO1 0 genome.wustl.edu 37 2 96933656 96933657 + Frame_Shift_Ins INS - - G TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 2 96933656 96933657 - G INS CIAO1 ENST00000488633 human ensembl 69_37n +1 known frame_shift_ins c.483_484 p.Q161fs 0.535:0.999 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CIAO1 HGNC ENSG00000144021 31 0 0.00 21 12 36.36 - - - CIAO1 0 genome.wustl.edu 37 2 96933659 96933660 + Frame_Shift_Ins INS - - CC TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 2 96933659 96933660 - CC INS CIAO1 ENST00000488633 human ensembl 69_37n +1 known frame_shift_ins c.486_487 p.E162fs 0.999:1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CIAO1 HGNC ENSG00000144021 29 0 0.00 20 12 37.50 - - - CORO6 0 genome.wustl.edu 37 17 27948434 27948434 + Silent SNP G G A TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 17 27948434 27948434 G A SNP CORO6 ENST00000345068 human ensembl 69_37n -1 known silent c.6 p.S2 1.000 NULL pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO6 HGNC ENSG00000167549 55 0 0.00 18 8 30.77 - - - CREB3L3 0 genome.wustl.edu 37 19 4171690 4171690 + Missense_Mutation SNP C C T TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 19 4171690 4171690 C T SNP CREB3L3 ENST00000252587 human ensembl 69_37n +1 known missense c.776 p.A259V 0.427 NULL pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd - no_errors CREB3L3 HGNC ENSG00000060566 19 0 0.00 22 7 24.14 - - - DCLK2 0 genome.wustl.edu 37 4 151153908 151153908 + Silent SNP C C T TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 4 151153908 151153908 C T SNP DCLK2 ENST00000302176 human ensembl 69_37n +1 known silent c.1545 p.N515 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom - no_errors DCLK2 HGNC ENSG00000170390 124 0 0.00 87 39 30.95 - - - DLGAP2 0 genome.wustl.edu 37 8 1497608 1497608 + Missense_Mutation SNP C C T TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 8 1497608 1497608 C T SNP DLGAP2 ENST00000421627 human ensembl 69_37n +1 known missense c.749 p.A250V 0.006 NULL pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 40 0 0.00 34 12 26.09 - - - DNASE2 0 genome.wustl.edu 37 19 12991929 12991929 + Missense_Mutation SNP C C G TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 19 12991929 12991929 C G SNP DNASE2 ENST00000222219 human ensembl 69_37n -1 known missense c.124 p.G42R 0.014 pfam_DNase_II pfam_DNase_II - no_errors DNASE2 HGNC ENSG00000105612 62 0 0.00 24 24 50.00 - - - DOC2A 0 genome.wustl.edu 37 16 30018123 30018123 + Missense_Mutation SNP C C T TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 16 30018123 30018123 C T SNP DOC2A ENST00000564357 human ensembl 69_37n -1 novel missense c.370 p.G124R 0.008 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DOC2A HGNC ENSG00000149927 89 0 0.00 53 32 37.65 - - - DPPA2 0 genome.wustl.edu 37 3 109031471 109031471 + Silent SNP G G A TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 3 109031471 109031471 G A SNP DPPA2 ENST00000478945 human ensembl 69_37n -1 known silent c.102 p.D34 0.001 NULL pfscan_SAP_DNA-bd - no_errors DPPA2 HGNC ENSG00000163530 240 0 0.00 107 81 43.09 - - - DUOX2 0 genome.wustl.edu 37 15 45396252 45396252 + Splice_Site SNP C C T TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 15 45396252 45396252 C T SNP DUOX2 ENST00000389039 human ensembl 69_37n -1 known splice_site c.2561-1 e19-1 1.000 - - - no_errors DUOX2 HGNC ENSG00000140279 116 1 0.85 79 24 23.30 - - - ELAVL1 0 genome.wustl.edu 37 19 8032461 8032461 + Missense_Mutation SNP G G A TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 19 8032461 8032461 G A SNP ELAVL1 ENST00000351593 human ensembl 69_37n -1 known missense c.725 p.A242V 1.000 tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL1 HGNC ENSG00000066044 41 0 0.00 31 34 51.52 - - - GIPC3 0 genome.wustl.edu 37 19 3589526 3589527 + Frame_Shift_Ins INS - - G TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 19 3589526 3589527 - G INS GIPC3 ENST00000322315 human ensembl 69_37n +1 known frame_shift_ins c.678_679 p.A228fs 0.411:0.803 pirsf_UCP038083_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ - no_errors GIPC3 HGNC ENSG00000179855 45 0 0.00 44 5 10.20 - - - GPATCH3 0 genome.wustl.edu 37 1 27219895 27219895 + Missense_Mutation SNP C C A TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 1 27219895 27219895 C A SNP GPATCH3 ENST00000361720 human ensembl 69_37n -1 known missense c.1096 p.V366L 0.867 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH3 HGNC ENSG00000198746 124 0 0.00 44 16 26.67 - - - GPR162 0 genome.wustl.edu 37 12 6934684 6934685 + Frame_Shift_Ins INS - - C TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 12 6934684 6934685 - C INS GPR162 ENST00000311268 human ensembl 69_37n +1 known frame_shift_ins c.903_904 p.W303fs 0.313:0.996 pfam_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_GPCR_162,prints_GPCR_153/162 - no_errors GPR162 HGNC ENSG00000250510 32 0 0.00 20 3 13.04 - - - HOXA1 0 genome.wustl.edu 37 7 27134949 27134949 + Missense_Mutation SNP C C T TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 7 27134949 27134949 C T SNP HOXA1 ENST00000343060 human ensembl 69_37n -1 known missense c.583 p.A195T 0.610 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXA1 HGNC ENSG00000105991 94 0 0.00 76 24 24.00 - - - KALRN 0 genome.wustl.edu 37 3 124380761 124380761 + Silent SNP C C T TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 3 124380761 124380761 C T SNP KALRN ENST00000360013 human ensembl 69_37n +1 known silent c.6328 p.L2110 1.000 superfamily_DH-domain pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 136 0 0.00 105 13 11.02 - - - KCTD16 0 genome.wustl.edu 37 5 143853657 143853657 + Silent SNP T T C TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 5 143853657 143853657 T C SNP KCTD16 ENST00000507359 human ensembl 69_37n +1 known silent c.1267 p.L423 0.927 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD16 HGNC ENSG00000183775 27 0 0.00 30 15 33.33 - - - MARC1 0 genome.wustl.edu 37 1 220986673 220986673 + Nonsense_Mutation SNP A A T TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 1 220986673 220986673 A T SNP MARC1 ENST00000407981 human ensembl 69_37n +1 putative nonsense c.703 p.K235* 0.378 pfam_MoCF_Sase_C,superfamily_Pyrv_Knase-like_insert_dom pfam_MoCF_Sase_C,pfam_MOSC_N,superfamily_Pyrv_Knase-like_insert_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MARC1 HGNC ENSG00000186205 140 0 0.00 175 51 22.47 - - - MEOX2 0 genome.wustl.edu 37 7 15666489 15666489 + Missense_Mutation SNP C C T TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 7 15666489 15666489 C T SNP MEOX2 ENST00000262041 human ensembl 69_37n -1 known missense c.572 p.R191K 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors MEOX2 HGNC ENSG00000106511 365 0 0.00 166 163 49.54 - - - MRPL24 0 genome.wustl.edu 37 1 156708153 156708153 + Silent SNP G G A TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 1 156708153 156708153 G A SNP MRPL24 ENST00000361531 human ensembl 69_37n -1 known silent c.261 p.V87 0.013 pfam_KOW,superfamily_Translation_prot_SH3-like,tigrfam_Ribosomal_L24 pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L24 - no_errors MRPL24 HGNC ENSG00000143314 227 0 0.00 234 79 25.16 - - - MUC16 0 genome.wustl.edu 37 19 9061379 9061379 + Silent SNP T T C TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 19 9061379 9061379 T C SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known silent c.26067 p.T8689 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 196 0 0.00 256 150 36.95 - - - MYO7B 0 genome.wustl.edu 37 2 128382968 128382968 + Frame_Shift_Del DEL C C - TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 2 128382968 128382968 C - DEL MYO7B ENST00000389524 human ensembl 69_37n +1 known frame_shift_del c.3995 p.R1333fs 1.000 superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 10 0 0.00 4 2 33.33 - - - NLRP8 0 genome.wustl.edu 37 19 56466066 56466066 + Silent SNP C C T TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 19 56466066 56466066 C T SNP NLRP8 ENST00000291971 human ensembl 69_37n +1 known silent c.642 p.I214 0.001 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC ENSG00000179709 82 0 0.00 52 32 38.10 - - - NOTUM 0 genome.wustl.edu 37 17 79914941 79914942 + Frame_Shift_Ins INS - - C TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 17 79914941 79914942 - C INS NOTUM ENST00000409678 human ensembl 69_37n -1 known frame_shift_ins c.705_704 p.T236fs 1.000:1.000 pfam_Pec_acetylest pfam_Pec_acetylest - no_errors NOTUM HGNC ENSG00000185269 15 0 0.00 10 3 23.08 - - - OTOF 0 genome.wustl.edu 37 2 26706481 26706481 + Missense_Mutation SNP C C T TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 2 26706481 26706481 C T SNP OTOF ENST00000272371 human ensembl 69_37n -1 known missense c.1241 p.R414H 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors OTOF HGNC ENSG00000115155 26 0 0.00 14 6 30.00 - - - PAX8 0 genome.wustl.edu 37 2 113993061 113993061 + Nonsense_Mutation SNP G G A TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 2 113993061 113993061 G A SNP PAX8 ENST00000429538 human ensembl 69_37n -1 known nonsense c.997 p.Q333* 1.000 NULL pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,prints_Paired_dom,pfscan_Paired_dom - no_errors PAX8 HGNC ENSG00000125618 51 0 0.00 27 12 30.77 - - - PCNT 0 genome.wustl.edu 37 21 47819611 47819611 + Silent SNP T T C TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 21 47819611 47819611 T C SNP PCNT ENST00000359568 human ensembl 69_37n +1 known silent c.4692 p.I1564 0.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 75 0 0.00 39 10 20.41 - - - QARS 0 genome.wustl.edu 37 3 49135886 49135886 + Missense_Mutation SNP C C G TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 3 49135886 49135886 C G SNP QARS ENST00000306125 human ensembl 69_37n -1 known missense c.1984 p.E662Q 1.000 pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,tigrfam_Gln-tRNA-synth_Ib pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_Gln-tRNA-synth_Ib_RNA-bd_2,superfamily_Ribosomal_L25/Gln-tRNA_synth,prints_Glu/Gln-tRNA-synth_Ib,tigrfam_Gln-tRNA-synth_Ib - no_errors QARS HGNC ENSG00000172053 54 0 0.00 51 9 15.00 - - - RAD54L2 0 genome.wustl.edu 37 3 51664777 51664777 + Missense_Mutation SNP G G A TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 3 51664777 51664777 G A SNP RAD54L2 ENST00000409535 human ensembl 69_37n +1 known missense c.655 p.E219K 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC ENSG00000164080 134 0 0.00 155 40 20.51 - - - RBMXL3 0 genome.wustl.edu 37 X 114426666 114426666 + Missense_Mutation SNP G G A TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 X 114426666 114426666 G A SNP RBMXL3 ENST00000424776 human ensembl 69_37n +1 known missense c.2662 p.E888K 0.999 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC ENSG00000175718 65 0 0.00 15 14 48.28 - - - SCN7A 0 genome.wustl.edu 37 2 167298248 167298248 + Missense_Mutation SNP C C A TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 2 167298248 167298248 C A SNP SCN7A ENST00000409855 human ensembl 69_37n -1 known missense c.1815 p.K605N 0.954 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 161 0 0.00 76 44 36.67 - - - SLC28A3 0 genome.wustl.edu 37 9 86894959 86894959 + Missense_Mutation SNP T T C TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 9 86894959 86894959 T C SNP SLC28A3 ENST00000376238 human ensembl 69_37n -1 known missense c.1759 p.I587V 1.000 pfam_Nucleos_tra2_C,tigrfam_C_nuclsd_transpt_met_bac pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac - no_errors SLC28A3 HGNC ENSG00000197506 112 0 0.00 59 82 58.16 - - - SOGA2 0 genome.wustl.edu 37 18 8796377 8796377 + Missense_Mutation SNP C C T TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 18 8796377 8796377 C T SNP SOGA2 ENST00000359865 human ensembl 69_37n +1 known missense c.2158 p.L720F 1.000 NULL pfam_DUF3166 - no_errors SOGA2 HGNC ENSG00000168502 169 0 0.00 58 63 52.07 - - - TBP 0 genome.wustl.edu 37 6 170871216 170871216 + Missense_Mutation SNP C C G TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 6 170871216 170871216 C G SNP TBP ENST00000230354 human ensembl 69_37n +1 known missense c.392 p.P131R 1.000 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 281 0 0.00 147 92 38.49 - - - TES 0 genome.wustl.edu 37 7 115892485 115892485 + Missense_Mutation SNP T T C TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 7 115892485 115892485 T C SNP TES ENST00000393484 human ensembl 69_37n +1 putative missense c.392 p.M131T 0.974 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TES HGNC ENSG00000135269 162 0 0.00 73 63 46.32 - - - TRIP12 0 genome.wustl.edu 37 2 230678717 230678717 + Missense_Mutation SNP C C T TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 2 230678717 230678717 C T SNP TRIP12 ENST00000283943 human ensembl 69_37n -1 known missense c.1711 p.E571K 1.000 superfamily_ARM-type_fold pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 87 0 0.00 36 21 36.84 - - - TRMT1 0 genome.wustl.edu 37 19 13218608 13218608 + Missense_Mutation SNP G G A TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 19 13218608 13218608 G A SNP TRMT1 ENST00000357720 human ensembl 69_37n -1 known missense c.1463 p.T488M 0.998 pfam_tRNA_MeTrfase_TRM1,tigrfam_tRNA_MeTrfase_TRM1 pfam_tRNA_MeTrfase_TRM1,pfam_Znf_CCCH,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_CCCH,tigrfam_tRNA_MeTrfase_TRM1 - no_errors TRMT1 HGNC ENSG00000104907 94 0 0.00 73 47 39.17 - - - TTLL12 0 genome.wustl.edu 37 22 43569738 43569738 + Nonsense_Mutation SNP G G A TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 22 43569738 43569738 G A SNP TTLL12 ENST00000216129 human ensembl 69_37n -1 known nonsense c.1324 p.R442* 1.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL12 HGNC ENSG00000100304 40 0 0.00 16 7 30.43 - - - WDR19 0 genome.wustl.edu 37 4 39247000 39247000 + Missense_Mutation SNP G G T TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 4 39247000 39247000 G T SNP WDR19 ENST00000399820 human ensembl 69_37n +1 known missense c.2657 p.G886V 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR19 HGNC ENSG00000157796 175 0 0.00 65 24 26.97 - - - YIPF6 0 genome.wustl.edu 37 X 67718953 67718953 + Silent SNP G G A TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a765959e-b234-427d-aade-855d6d4981d9 779c84bb-5769-4fca-ad11-fd743808c144 X 67718953 67718953 G A SNP YIPF6 ENST00000462683 human ensembl 69_37n +1 known silent c.45 p.S15 0.030 NULL pfam_Yip1 - no_errors YIPF6 HGNC ENSG00000181704 201 0 0.00 223 51 18.61 - - -