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 C16orf71 0 genome.wustl.edu 37 16 4790474 4790474 + Silent SNP C C T TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 16 4790474 4790474 C T SNP C16orf71 ENST00000299320 human ensembl 69_37n +1 known silent c.597 p.L199 0.952 NULL NULL - no_errors C16orf71 HGNC ENSG00000166246 33 0 0.00 35 6 14.63 - - - C1orf112 0 genome.wustl.edu 37 1 169818727 169818727 + Silent SNP G G C TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 1 169818727 169818727 G C SNP C1orf112 ENST00000286031 human ensembl 69_37n +1 known silent c.2145 p.A715 0.993 NULL NULL - no_errors C1orf112 HGNC ENSG00000000460 42 0 0.00 80 9 10.11 - - - C8G 0 genome.wustl.edu 37 9 139841102 139841102 + Splice_Site SNP G G T TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 9 139841102 139841102 G T SNP C8G ENST00000224181 human ensembl 69_37n +1 known splice_site c.557-1 e6-1 0.999 - - - no_errors C8G HGNC ENSG00000176919 48 0 0 59 9 13.24 - - - C8G 0 genome.wustl.edu 37 9 139841102 139841102 + Splice_Site SNP G G T TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 9 139841102 139841102 G T SNP C8G ENST00000224181 human ensembl 69_37n +1 known splice_site c.557-1 e6-1 0.999 - - - no_errors C8G HGNC ENSG00000176919 48 0 0.00 59 9 13.24 - - - CRIM1 0 genome.wustl.edu 37 2 36623762 36623762 + Missense_Mutation SNP A A C TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 2 36623762 36623762 A C SNP CRIM1 ENST00000280527 human ensembl 69_37n +1 known missense c.337 p.N113H 1.000 NULL pfam_VWF_C,pfam_Prot_inh_I15_antistasin-like,superfamily_Prot_inh_I14/15_hirudin/antisn,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C - no_errors CRIM1 HGNC ENSG00000150938 66 0 0.00 63 12 16.00 - - - CYLD 0 genome.wustl.edu 37 16 50783709 50783709 + Missense_Mutation SNP C C G TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 16 50783709 50783709 C G SNP CYLD ENST00000311559 human ensembl 69_37n +1 known missense c.100 p.Q34E 1.000 NULL pfam_CAP-Gly_domain,pfam_Peptidase_C19,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19 - no_errors CYLD HGNC ENSG00000083799 38 0 0.00 25 5 16.67 - - - DCAF12L2 0 genome.wustl.edu 37 X 125298898 125298898 + Missense_Mutation SNP C C T TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 X 125298898 125298898 C T SNP DCAF12L2 ENST00000360028 human ensembl 69_37n -1 known missense c.1010 p.R337H 0.964 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 51 0 0.00 46 31 40.26 - - - DLX5 0 genome.wustl.edu 37 7 96651538 96651538 + Missense_Mutation SNP G G A TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 7 96651538 96651538 G A SNP DLX5 ENST00000222598 human ensembl 69_37n -1 known missense c.499 p.R167C 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa pfam_Distal-less_N,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX5 HGNC ENSG00000105880 42 0 0.00 35 19 35.19 - - - FSIP2 0 genome.wustl.edu 37 2 186656657 186656657 + Silent SNP C C T TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 2 186656657 186656657 C T SNP FSIP2 ENST00000343098 human ensembl 69_37n +1 known silent c.5061 p.N1687 0.966 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 10 0 0.00 14 5 26.32 - - - GATA4 0 genome.wustl.edu 37 8 11606457 11606457 + Missense_Mutation SNP G G C TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 8 11606457 11606457 G C SNP GATA4 ENST00000335135 human ensembl 69_37n +1 known missense c.646 p.E216Q 1.000 smart_Znf_GATA,pirsf_TF_GATA_4/5/6,pfscan_Znf_GATA,prints_Znf_GATA pfam_GATA_N,pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA_4/5/6,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA4 HGNC ENSG00000136574 43 0 0.00 36 31 46.27 - - - KCNQ4 0 genome.wustl.edu 37 1 41303356 41303356 + Missense_Mutation SNP C C T TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 1 41303356 41303356 C T SNP KCNQ4 ENST00000347132 human ensembl 69_37n +1 known missense c.1765 p.R589W 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ4 HGNC ENSG00000117013 48 0 0.00 29 5 14.71 - - - KCTD15 0 genome.wustl.edu 37 19 34304928 34304928 + RNA DEL C C - TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 19 34304928 34304928 C - DEL KCTD15 ENST00000592363 human ensembl 69_37n +1 putative rna NULL NULL 0.001 - - - no_errors KCTD15 HGNC ENSG00000153885 26 0 0.00 24 28 52.83 - - - KRT8P11 0 genome.wustl.edu 37 9 102067538 102067538 + Missense_Mutation SNP A A C TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 9 102067538 102067538 A C SNP KRT8P11 ENST00000409686 human ensembl 69_37n +1 known missense c.145 p.I49L 0.000 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT8P11 HGNC ENSG00000259197 44 0 0.00 21 10 32.26 - - - LCA5L 0 genome.wustl.edu 37 21 40795074 40795075 + Frame_Shift_Ins INS - - T TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 21 40795074 40795075 - T INS LCA5L ENST00000288350 human ensembl 69_37n -1 known frame_shift_ins c.665_664 p.R222fs 0.296:0.317 NULL NULL - no_errors LCA5L HGNC ENSG00000157578 80 0 0.00 66 34 34.00 - - - LINC00610 0 genome.wustl.edu 37 11 36292941 36292941 + RNA SNP A A G TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 11 36292941 36292941 A G SNP LINC00610 ENST00000355500 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors LINC00610 HGNC ENSG00000196559 9 0 0.00 11 9 45.00 - - - LMBRD2 0 genome.wustl.edu 37 5 36104192 36104192 + Nonsense_Mutation SNP G G A TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 5 36104192 36104192 G A SNP LMBRD2 ENST00000296603 human ensembl 69_37n -1 known nonsense c.2044 p.R682* 1.000 NULL pfam_LMBR1-like_membr_prot - no_errors LMBRD2 HGNC ENSG00000164187 23 0 0.00 23 9 28.12 - - - LONRF2 0 genome.wustl.edu 37 2 100903452 100903452 + Missense_Mutation SNP G G C TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 2 100903452 100903452 G C SNP LONRF2 ENST00000393437 human ensembl 69_37n -1 known missense c.1994 p.A665G 0.391 pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF2 HGNC ENSG00000170500 31 0 0.00 38 9 19.15 - - - LYST 0 genome.wustl.edu 37 1 235972478 235972478 + Missense_Mutation SNP C C A TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 1 235972478 235972478 C A SNP LYST ENST00000389793 human ensembl 69_37n -1 known missense c.1640 p.C547F 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 21 0 0.00 29 8 21.62 - - - MYH4 0 genome.wustl.edu 37 17 10354183 10354183 + Missense_Mutation SNP C C G TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 17 10354183 10354183 C G SNP MYH4 ENST00000255381 human ensembl 69_37n -1 known missense c.3895 p.D1299H 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 68 0 0.00 68 12 15.00 - - - NRD1 0 genome.wustl.edu 37 1 52257716 52257716 + Splice_Site SNP A A C TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 1 52257716 52257716 A C SNP NRD1 ENST00000354831 human ensembl 69_37n -1 known splice_site c.3080+2 e28+2 1.000 - - - no_errors NRD1 HGNC ENSG00000078618 34 0 0 37 5 11.9 - - - NXPH1 0 genome.wustl.edu 37 7 8790942 8790942 + Missense_Mutation SNP G G C TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 7 8790942 8790942 G C SNP NXPH1 ENST00000405863 human ensembl 69_37n +1 known missense c.359 p.G120A 1.000 pirsf_Neurexophilin pirsf_Neurexophilin - no_errors NXPH1 HGNC ENSG00000122584 28 0 0.00 18 9 33.33 - - - PABPC3 0 genome.wustl.edu 37 13 25671129 25671129 + Nonsense_Mutation SNP C C T TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 13 25671129 25671129 C T SNP PABPC3 ENST00000281589 human ensembl 69_37n +1 known nonsense c.793 p.R265* 1.000 pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC ENSG00000151846 49 0 0.00 53 8 13.11 - - - PCDHA13 0 genome.wustl.edu 37 5 140263105 140263105 + Missense_Mutation SNP G G A TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 5 140263105 140263105 G A SNP PCDHA13 ENST00000289272 human ensembl 69_37n +1 known missense c.1252 p.V418I 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 95 0 0.00 53 14 20.90 - - - RAI1 0 genome.wustl.edu 37 17 17696487 17696487 + Silent SNP C C G TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 17 17696487 17696487 C G SNP RAI1 ENST00000353383 human ensembl 69_37n +1 known silent c.225 p.A75 0.005 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 36 0 0.00 25 11 30.56 - - - RBM5 0 genome.wustl.edu 37 3 50137998 50137998 + Missense_Mutation SNP A A G TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 3 50137998 50137998 A G SNP RBM5 ENST00000347869 human ensembl 69_37n +1 known missense c.443 p.Y148C 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM5 HGNC ENSG00000003756 48 0 0.00 45 15 25.00 - - - RGS7 0 genome.wustl.edu 37 1 240963987 240963987 + Frame_Shift_Del DEL T T - TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 1 240963987 240963987 T - DEL RGS7 ENST00000407727 human ensembl 69_37n -1 known frame_shift_del c.1448 p.N483fs 1.000 NULL pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS7 HGNC ENSG00000182901 65 0 0.00 52 9 14.75 - - - SEMA6A 0 genome.wustl.edu 37 5 115782950 115782950 + Missense_Mutation SNP G G T TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 5 115782950 115782950 G T SNP SEMA6A ENST00000257414 human ensembl 69_37n -1 known missense c.2503 p.L835M 1.000 NULL pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6A HGNC ENSG00000092421 47 0 0.00 32 9 21.95 - - - SEMA6A 0 genome.wustl.edu 37 5 115782951 115782951 + Missense_Mutation SNP G G T TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 5 115782951 115782951 G T SNP SEMA6A ENST00000515129 human ensembl 69_37n -1 putative missense c.995 p.S332Y 0.998 NULL pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SEMA6A HGNC ENSG00000092421 48 0 0.00 31 9 22.50 - - - SPATA13 0 genome.wustl.edu 37 13 24860471 24860471 + Missense_Mutation SNP G G A TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 13 24860471 24860471 G A SNP SPATA13 ENST00000382141 human ensembl 69_37n +1 known missense c.2167 p.G723R 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SPATA13 HGNC ENSG00000182957 36 0 0.00 25 11 30.56 - - - STON1-GTF2A1L 0 genome.wustl.edu 37 2 48809570 48809570 + Nonsense_Mutation SNP C C T TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 2 48809570 48809570 C T SNP STON1-GTF2A1L ENST00000309827 human ensembl 69_37n +1 known nonsense c.1798 p.R600* 0.998 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1-GTF2A1L HGNC ENSG00000068781 42 0 0.00 46 9 16.36 - - - TAS2R43 0 genome.wustl.edu 37 12 11244634 11244634 + Silent SNP G G A TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 12 11244634 11244634 G A SNP TAS2R43 ENST00000531678 human ensembl 69_37n -1 known silent c.195 p.N65 0.001 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R43 HGNC ENSG00000255374 29 0 0.00 23 6 20.69 - - - TAS2R43 0 genome.wustl.edu 37 12 11244646 11244646 + Silent SNP T T C TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 12 11244646 11244646 T C SNP TAS2R43 ENST00000531678 human ensembl 69_37n -1 known silent c.183 p.V61 0.001 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R43 HGNC ENSG00000255374 27 0 0.00 22 6 21.43 - - - TAS2R43 0 genome.wustl.edu 37 12 11244687 11244687 + Missense_Mutation SNP G G C TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 12 11244687 11244687 G C SNP TAS2R43 ENST00000531678 human ensembl 69_37n -1 known missense c.142 p.L48V 0.022 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R43 HGNC ENSG00000255374 26 0 0.00 29 6 17.14 - - - TCF25 0 genome.wustl.edu 37 16 89967200 89967200 + Nonsense_Mutation SNP G G A TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 16 89967200 89967200 G A SNP TCF25 ENST00000562256 human ensembl 69_37n +1 putative nonsense c.963 p.W321* 1.000 pfam_TCF25 pfam_TCF25 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TCF25 HGNC ENSG00000141002 43 0 0.00 24 5 17.24 - - - TMED1 0 genome.wustl.edu 37 19 10943615 10943616 + Frame_Shift_Del DEL AT AT - TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 AT AT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 19 10943615 10943616 AT - DEL TMED1 ENST00000591695 human ensembl 69_37n -1 putative frame_shift_del c.556_555 p.I185fs 0.003:0.000 NULL pfam_GOLD,superfamily_GOLD - no_errors TMED1 HGNC ENSG00000099203 40 0 0.00 36 13 26.53 - - - TP53 0 genome.wustl.edu 37 17 7574003 7574003 + Nonsense_Mutation SNP G G A TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 17 7574003 7574003 G A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known nonsense c.1024 p.R342* 0.307 pfam_p53_tetrameristn,superfamily_p53_tetrameristn,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 21 0 0.00 14 4 22.22 - - - USP24 0 genome.wustl.edu 37 1 55619828 55619828 + Silent SNP C C T TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 1 55619828 55619828 C T SNP USP24 ENST00000294383 human ensembl 69_37n -1 known silent c.1776 p.R592 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19 - no_errors USP24 HGNC ENSG00000162402 36 0 0.00 40 7 14.89 - - - WDR5 0 genome.wustl.edu 37 9 137013427 137013427 + Silent SNP T T C TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 9 137013427 137013427 T C SNP WDR5 ENST00000358625 human ensembl 69_37n +1 known silent c.546 p.D182 1.000 pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR5 HGNC ENSG00000196363 67 0 0.00 61 8 11.59 - - - ZAN 0 genome.wustl.edu 37 7 100383642 100383642 + Missense_Mutation SNP C C G TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 7 100383642 100383642 C G SNP ZAN ENST00000546292 human ensembl 69_37n +1 known missense c.6855 p.S2285R 0.000 smart_VWC_out pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 30 0 0.00 40 12 23.08 - - - ZBTB48 0 genome.wustl.edu 37 1 6648359 6648359 + Missense_Mutation SNP G G A TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 1 6648359 6648359 G A SNP ZBTB48 ENST00000377674 human ensembl 69_37n +1 known missense c.1538 p.R513H 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB48 HGNC ENSG00000204859 14 0 0.00 13 5 27.78 - - - ZNF711 0 genome.wustl.edu 37 X 84520170 84520170 + Silent SNP A A C TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 58314df9-cc1a-41b7-adb9-c74f43781912 854b2ea6-3de2-47bf-b7cd-b8de234014a9 X 84520170 84520170 A C SNP ZNF711 ENST00000395402 human ensembl 69_37n +1 known silent c.759 p.S253 1.000 pfam_Transcrp_activ_Zfx/Zfy-dom pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ENSG00000147180 50 0 0.00 66 8 10.81 - - -