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 ABCB8 0 genome.wustl.edu 37 7 150741305 150741305 + Missense_Mutation SNP G G T TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 8060bafc-8b8c-44ba-91ba-8a9035b52f44 7 150741305 150741305 G T SNP ABCB8 ENST00000297504 human ensembl 69_37n +1 known missense c.2064 p.W688C 0.995 pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB8 HGNC ENSG00000197150 112 0 0.00 93 20 17.70 - - - ABCB8 0 genome.wustl.edu 37 7 150741305 150741305 + Missense_Mutation SNP G G T TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-11A-42D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 9b12ed02-9183-4b84-b638-fd56f00f411a 7 150741305 150741305 G T SNP ABCB8 ENST00000297504 human ensembl 69_37n +1 known missense c.2064 p.W688C 0.995 pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB8 HGNC ENSG00000197150 54 0 0.00 93 20 17.70 - - - ATAD2B 0 genome.wustl.edu 37 2 24092569 24092569 + Missense_Mutation SNP C C A TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 8060bafc-8b8c-44ba-91ba-8a9035b52f44 2 24092569 24092569 C A SNP ATAD2B ENST00000238789 human ensembl 69_37n -1 known missense c.1040 p.R347I 1.000 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2B HGNC ENSG00000119778 485 0 0.00 358 112 23.83 - - - ATAD2B 0 genome.wustl.edu 37 2 24092569 24092569 + Missense_Mutation SNP C C A TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-11A-42D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 9b12ed02-9183-4b84-b638-fd56f00f411a 2 24092569 24092569 C A SNP ATAD2B ENST00000238789 human ensembl 69_37n -1 known missense c.1040 p.R347I 1.000 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2B HGNC ENSG00000119778 652 0 0.00 358 112 23.83 - - - BAZ2A 0 genome.wustl.edu 37 12 56992725 56992725 + Missense_Mutation SNP C C A TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 8060bafc-8b8c-44ba-91ba-8a9035b52f44 12 56992725 56992725 C A SNP BAZ2A ENST00000551812 human ensembl 69_37n -1 known missense c.5479 p.V1827L 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC ENSG00000076108 83 0 0.00 69 41 37.27 - - - BAZ2A 0 genome.wustl.edu 37 12 56992725 56992725 + Missense_Mutation SNP C C A TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-11A-42D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 9b12ed02-9183-4b84-b638-fd56f00f411a 12 56992725 56992725 C A SNP BAZ2A ENST00000551812 human ensembl 69_37n -1 known missense c.5479 p.V1827L 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC ENSG00000076108 81 0 0.00 69 41 37.27 - - - BCORL1 0 genome.wustl.edu 37 X 129150177 129150177 + Missense_Mutation SNP C C T TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 8060bafc-8b8c-44ba-91ba-8a9035b52f44 X 129150177 129150177 C T SNP BCORL1 ENST00000441294 human ensembl 69_37n +1 known missense c.1735 p.P579S 0.070 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region BCORL1 HGNC ENSG00000085185 20 0 0.00 22 5 18.52 - - - BCORL1 0 genome.wustl.edu 37 X 129150177 129150177 + Missense_Mutation SNP C C T TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-11A-42D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 9b12ed02-9183-4b84-b638-fd56f00f411a X 129150177 129150177 C T SNP BCORL1 ENST00000441294 human ensembl 69_37n +1 known missense c.1735 p.P579S 0.070 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region BCORL1 HGNC ENSG00000085185 29 0 0.00 22 5 18.52 - - - BIRC6 0 genome.wustl.edu 37 2 32822992 32822992 + Missense_Mutation SNP G G T TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 8060bafc-8b8c-44ba-91ba-8a9035b52f44 2 32822992 32822992 G T SNP BIRC6 ENST00000421745 human ensembl 69_37n +1 known missense c.13787 p.S4596I 1.000 pfam_UBQ-conjugat_E2,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 195 0 0.00 93 89 48.90 - - - BIRC6 0 genome.wustl.edu 37 2 32822992 32822992 + Missense_Mutation SNP G G T TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-11A-42D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 9b12ed02-9183-4b84-b638-fd56f00f411a 2 32822992 32822992 G T SNP BIRC6 ENST00000421745 human ensembl 69_37n +1 known missense c.13787 p.S4596I 1.000 pfam_UBQ-conjugat_E2,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 259 0 0.00 93 89 48.90 - - - C17orf101 0 genome.wustl.edu 37 17 80369359 80369359 + Missense_Mutation SNP T T A TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 8060bafc-8b8c-44ba-91ba-8a9035b52f44 17 80369359 80369359 T A SNP C17orf101 ENST00000329197 human ensembl 69_37n -1 known missense c.352 p.T118S 1.000 smart_Pro_4_hyd_alph smart_Pro_4_hyd_alph - no_errors C17orf101 HGNC ENSG00000181396 81 0 0.00 61 19 23.75 - - - C17orf101 0 genome.wustl.edu 37 17 80369359 80369359 + Missense_Mutation SNP T T A TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-11A-42D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 9b12ed02-9183-4b84-b638-fd56f00f411a 17 80369359 80369359 T A SNP C17orf101 ENST00000329197 human ensembl 69_37n -1 known missense c.352 p.T118S 1.000 smart_Pro_4_hyd_alph smart_Pro_4_hyd_alph - no_errors C17orf101 HGNC ENSG00000181396 41 0 0.00 61 19 23.75 - - - CAMKK1 0 genome.wustl.edu 37 17 3776749 3776749 + Missense_Mutation SNP T T G TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 8060bafc-8b8c-44ba-91ba-8a9035b52f44 17 3776749 3776749 T G SNP CAMKK1 ENST00000381771 human ensembl 69_37n -1 known missense c.1118 p.D373A 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_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 CAMKK1 HGNC ENSG00000004660 185 0 0.00 99 21 17.50 - - - CDRT15 0 genome.wustl.edu 37 17 14139888 14139888 + Splice_Site SNP C C T TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-11A-42D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 9b12ed02-9183-4b84-b638-fd56f00f411a 17 14139888 14139888 C T SNP CDRT15 ENST00000420162 human ensembl 69_37n -1 known splice_site c.262+1 e1+1 0.071 - - - no_errors CDRT15 HGNC ENSG00000223510 29 0 0.00 36 7 16.28 - - - CNOT3 0 genome.wustl.edu 37 19 54650352 54650352 + Missense_Mutation SNP G G C TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 8060bafc-8b8c-44ba-91ba-8a9035b52f44 19 54650352 54650352 G C SNP CNOT3 ENST00000221232 human ensembl 69_37n +1 known missense c.853 p.D285H 1.000 pirsf_CCR4-NOT_su3/5 pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5 - no_errors CNOT3 HGNC ENSG00000088038 211 0 0.00 128 36 21.95 - - - CNOT3 0 genome.wustl.edu 37 19 54650352 54650352 + Missense_Mutation SNP G G C TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-11A-42D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 9b12ed02-9183-4b84-b638-fd56f00f411a 19 54650352 54650352 G C SNP CNOT3 ENST00000221232 human ensembl 69_37n +1 known missense c.853 p.D285H 1.000 pirsf_CCR4-NOT_su3/5 pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5 - no_errors CNOT3 HGNC ENSG00000088038 131 0 0.00 128 36 21.95 - - - CROCCP2 0 genome.wustl.edu 37 1 16950708 16950708 + RNA SNP T T G TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-11A-42D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 9b12ed02-9183-4b84-b638-fd56f00f411a 1 16950708 16950708 T G SNP CROCCP2 ENST00000421700 human ensembl 69_37n -1 known rna NULL NULL 0.013 - - - no_errors CROCCP2 HGNC ENSG00000215908 8 0 0.00 8 9 52.94 - - - DDR2 0 genome.wustl.edu 37 1 162743378 162743378 + Missense_Mutation SNP G G C TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 8060bafc-8b8c-44ba-91ba-8a9035b52f44 1 162743378 162743378 G C SNP DDR2 ENST00000367921 human ensembl 69_37n +1 known missense c.1848 p.K616N 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC ENSG00000162733 150 0 0.00 130 126 49.22 - - - DDR2 0 genome.wustl.edu 37 1 162743378 162743378 + Missense_Mutation SNP G G C TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-11A-42D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 9b12ed02-9183-4b84-b638-fd56f00f411a 1 162743378 162743378 G C SNP DDR2 ENST00000367921 human ensembl 69_37n +1 known missense c.1848 p.K616N 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC ENSG00000162733 182 0 0.00 130 126 49.22 - - - DPY19L3 0 genome.wustl.edu 37 19 32968544 32968544 + Missense_Mutation SNP G G A TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 8060bafc-8b8c-44ba-91ba-8a9035b52f44 19 32968544 32968544 G A SNP DPY19L3 ENST00000342179 human ensembl 69_37n +1 known missense c.1814 p.R605K 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L3 HGNC ENSG00000178904 150 1 0.66 122 38 23.75 - - - DPY19L3 0 genome.wustl.edu 37 19 32968544 32968544 + Missense_Mutation SNP G G A TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-11A-42D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 9b12ed02-9183-4b84-b638-fd56f00f411a 19 32968544 32968544 G A SNP DPY19L3 ENST00000342179 human ensembl 69_37n +1 known missense c.1814 p.R605K 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L3 HGNC ENSG00000178904 127 0 0.00 122 38 23.75 - - - DSPP 0 genome.wustl.edu 37 4 88535329 88535329 + Missense_Mutation SNP T T A TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 8060bafc-8b8c-44ba-91ba-8a9035b52f44 4 88535329 88535329 T A SNP DSPP ENST00000282478 human ensembl 69_37n +1 known missense c.1515 p.S505R 0.998 NULL NULL - no_errors DSPP HGNC ENSG00000152591 276 0 0.00 242 68 21.86 - - - DSPP 0 genome.wustl.edu 37 4 88535329 88535329 + Missense_Mutation SNP T T A TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-11A-42D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 9b12ed02-9183-4b84-b638-fd56f00f411a 4 88535329 88535329 T A SNP DSPP ENST00000282478 human ensembl 69_37n +1 known missense c.1515 p.S505R 0.998 NULL NULL - no_errors DSPP HGNC ENSG00000152591 379 0 0.00 242 68 21.86 - - - FAM169A 0 genome.wustl.edu 37 5 74077801 74077803 + In_Frame_Del DEL CAT CAT - TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-10A-01D-A12Q-09 CAT CAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 8060bafc-8b8c-44ba-91ba-8a9035b52f44 5 74077801 74077803 CAT - DEL FAM169A ENST00000389156 human ensembl 69_37n -1 known in_frame_del c.1497_1495 p.M499in_frame_del 0.000:0.000:0.000 NULL NULL - no_errors FAM169A HGNC ENSG00000198780 76 0 0.00 75 20 21.05 - - - FAM169A 0 genome.wustl.edu 37 5 74077801 74077803 + In_Frame_Del DEL CAT CAT - TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-11A-42D-A12Q-09 CAT CAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 9b12ed02-9183-4b84-b638-fd56f00f411a 5 74077801 74077803 CAT - DEL FAM169A ENST00000389156 human ensembl 69_37n -1 known in_frame_del c.1497_1495 p.M499in_frame_del 0.000:0.000:0.000 NULL NULL - no_errors FAM169A HGNC ENSG00000198780 102 0 0.00 75 20 21.05 - - - FAM26D 0 genome.wustl.edu 37 6 116879271 116879271 + Missense_Mutation SNP T T C TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 8060bafc-8b8c-44ba-91ba-8a9035b52f44 6 116879271 116879271 T C SNP FAM26D ENST00000368596 human ensembl 69_37n +1 known missense c.842 p.L281S 0.033 NULL NULL - no_errors FAM26D HGNC ENSG00000164451 215 0 0.00 56 89 61.38 - - - FAM26D 0 genome.wustl.edu 37 6 116879271 116879271 + Missense_Mutation SNP T T C TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-11A-42D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 9b12ed02-9183-4b84-b638-fd56f00f411a 6 116879271 116879271 T C SNP FAM26D ENST00000368596 human ensembl 69_37n +1 known missense c.842 p.L281S 0.033 NULL NULL - no_errors FAM26D HGNC ENSG00000164451 220 0 0.00 56 89 61.38 - - - FAM46A 0 genome.wustl.edu 37 6 82459981 82459982 + Frame_Shift_Del DEL TC TC - TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-10A-01D-A12Q-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 8060bafc-8b8c-44ba-91ba-8a9035b52f44 6 82459981 82459982 TC - DEL FAM46A ENST00000369756 human ensembl 69_37n -1 known frame_shift_del c.1003_1002 p.E334fs 1.000:1.000 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46A HGNC ENSG00000112773 168 0 0.00 94 14 12.96 - - - FAM46A 0 genome.wustl.edu 37 6 82459981 82459982 + Frame_Shift_Del DEL TC TC - TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-11A-42D-A12Q-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 9b12ed02-9183-4b84-b638-fd56f00f411a 6 82459981 82459982 TC - DEL FAM46A ENST00000369756 human ensembl 69_37n -1 known frame_shift_del c.1003_1002 p.E334fs 1.000:1.000 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46A HGNC ENSG00000112773 153 0 0.00 94 14 12.96 - - - GP1BA 0 genome.wustl.edu 37 17 4837763 4837763 + Silent SNP C C T TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 8060bafc-8b8c-44ba-91ba-8a9035b52f44 17 4837763 4837763 C T SNP GP1BA ENST00000329125 human ensembl 69_37n +1 known silent c.1864 p.L622 0.984 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP1BA HGNC ENSG00000185245 72 0 0.00 21 46 68.66 - - - KCNIP2 0 genome.wustl.edu 37 10 103588945 103588945 + Missense_Mutation SNP C C T TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 8060bafc-8b8c-44ba-91ba-8a9035b52f44 10 103588945 103588945 C T SNP KCNIP2 ENST00000461105 human ensembl 69_37n -1 known missense c.280 p.D94N 1.000 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors KCNIP2 HGNC ENSG00000120049 58 0 0.00 44 18 29.03 - - - KCNIP2 0 genome.wustl.edu 37 10 103588945 103588945 + Missense_Mutation SNP C C T TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-11A-42D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 9b12ed02-9183-4b84-b638-fd56f00f411a 10 103588945 103588945 C T SNP KCNIP2 ENST00000461105 human ensembl 69_37n -1 known missense c.280 p.D94N 1.000 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors KCNIP2 HGNC ENSG00000120049 31 0 0.00 44 18 29.03 - - - KIAA1239 0 genome.wustl.edu 37 4 37445614 37445615 + Frame_Shift_Ins INS - - A TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-10A-01D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 8060bafc-8b8c-44ba-91ba-8a9035b52f44 4 37445614 37445615 - A INS KIAA1239 ENST00000309447 human ensembl 69_37n +1 known frame_shift_ins c.2004_2005 p.M669fs 1.000:1.000 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIAA1239 HGNC ENSG00000174145 126 0 0.00 110 32 22.54 - - - KIAA1239 0 genome.wustl.edu 37 4 37445614 37445615 + Frame_Shift_Ins INS - - A TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-11A-42D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 9b12ed02-9183-4b84-b638-fd56f00f411a 4 37445614 37445615 - A INS KIAA1239 ENST00000309447 human ensembl 69_37n +1 known frame_shift_ins c.2004_2005 p.M669fs 1.000:1.000 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIAA1239 HGNC ENSG00000174145 116 0 0.00 110 32 22.54 - - - KRTAP4-6 0 genome.wustl.edu 37 17 39296423 39296423 + Missense_Mutation SNP C C T TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 8060bafc-8b8c-44ba-91ba-8a9035b52f44 17 39296423 39296423 C T SNP KRTAP4-6 ENST00000345847 human ensembl 69_37n -1 known missense c.317 p.R106H 0.000 NULL pfam_Keratin-assoc - no_errors KRTAP4-6 HGNC ENSG00000198090 77 0 0.00 76 21 21.65 - - - KRTAP4-6 0 genome.wustl.edu 37 17 39296423 39296423 + Missense_Mutation SNP C C T TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-11A-42D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 9b12ed02-9183-4b84-b638-fd56f00f411a 17 39296423 39296423 C T SNP KRTAP4-6 ENST00000345847 human ensembl 69_37n -1 known missense c.317 p.R106H 0.000 NULL pfam_Keratin-assoc - no_errors KRTAP4-6 HGNC ENSG00000198090 49 0 0.00 76 21 21.65 - - - LTBP2 0 genome.wustl.edu 37 14 74975371 74975371 + Missense_Mutation SNP G G A TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 8060bafc-8b8c-44ba-91ba-8a9035b52f44 14 74975371 74975371 G A SNP LTBP2 ENST00000556206 human ensembl 69_37n -1 novel missense c.385 p.R129W 0.304 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom - no_start_codon:pseudogene:no_stop_codon LTBP2 HGNC ENSG00000119681 64 0 0.00 22 13 37.14 - - - LTBP2 0 genome.wustl.edu 37 14 74975371 74975371 + Missense_Mutation SNP G G A TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-11A-42D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 9b12ed02-9183-4b84-b638-fd56f00f411a 14 74975371 74975371 G A SNP LTBP2 ENST00000556206 human ensembl 69_37n -1 novel missense c.385 p.R129W 0.304 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom - no_start_codon:pseudogene:no_stop_codon LTBP2 HGNC ENSG00000119681 19 0 0.00 22 13 37.14 - - - MUC2 0 genome.wustl.edu 37 11 1101090 1101090 + Missense_Mutation SNP G G A TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 8060bafc-8b8c-44ba-91ba-8a9035b52f44 11 1101090 1101090 G A SNP MUC2 ENST00000441003 human ensembl 69_37n +1 known missense c.7489 p.V2497I 0.000 smart_VWF_C,pfscan_VWF_C pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 102 0 0.00 68 14 16.87 - - - MUC2 0 genome.wustl.edu 37 11 1101090 1101090 + Missense_Mutation SNP G G A TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-11A-42D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 9b12ed02-9183-4b84-b638-fd56f00f411a 11 1101090 1101090 G A SNP MUC2 ENST00000441003 human ensembl 69_37n +1 known missense c.7489 p.V2497I 0.000 smart_VWF_C,pfscan_VWF_C pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 46 0 0.00 68 14 16.87 - - - OBSCN 0 genome.wustl.edu 37 1 228506585 228506585 + Missense_Mutation SNP T T C TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 8060bafc-8b8c-44ba-91ba-8a9035b52f44 1 228506585 228506585 T C SNP OBSCN ENST00000422127 human ensembl 69_37n +1 known missense c.14132 p.V4711A 0.993 smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 20 0 0.00 27 5 15.62 - - - OR5R1 0 genome.wustl.edu 37 11 56185039 56185039 + Missense_Mutation SNP C C T TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 8060bafc-8b8c-44ba-91ba-8a9035b52f44 11 56185039 56185039 C T SNP OR5R1 ENST00000312253 human ensembl 69_37n -1 known missense c.670 p.A224T 0.003 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5R1 HGNC ENSG00000174942 242 0 0.00 118 111 48.47 - - - OR5R1 0 genome.wustl.edu 37 11 56185039 56185039 + Missense_Mutation SNP C C T TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-11A-42D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 9b12ed02-9183-4b84-b638-fd56f00f411a 11 56185039 56185039 C T SNP OR5R1 ENST00000312253 human ensembl 69_37n -1 known missense c.670 p.A224T 0.003 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5R1 HGNC ENSG00000174942 263 0 0.00 118 111 48.47 - - - PEX2 0 genome.wustl.edu 37 8 77895909 77895909 + Missense_Mutation SNP C C T TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-11A-42D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 9b12ed02-9183-4b84-b638-fd56f00f411a 8 77895909 77895909 C T SNP PEX2 ENST00000357039 human ensembl 69_37n -1 known missense c.506 p.R169H 1.000 pfam_Pex_N pfam_Pex_N,smart_Znf_RING,pfscan_Znf_RING - no_errors PEX2 HGNC ENSG00000164751 138 0 0.00 143 26 15.38 - - - PRKCE 0 genome.wustl.edu 37 2 46070194 46070194 + Missense_Mutation SNP C C T TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 8060bafc-8b8c-44ba-91ba-8a9035b52f44 2 46070194 46070194 C T SNP PRKCE ENST00000306156 human ensembl 69_37n +1 known missense c.404 p.S135L 0.749 superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKCE HGNC ENSG00000171132 503 0 0.00 300 96 24.24 - - - PRKCE 0 genome.wustl.edu 37 2 46070194 46070194 + Missense_Mutation SNP C C T TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-11A-42D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 9b12ed02-9183-4b84-b638-fd56f00f411a 2 46070194 46070194 C T SNP PRKCE ENST00000306156 human ensembl 69_37n +1 known missense c.404 p.S135L 0.749 superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKCE HGNC ENSG00000171132 427 0 0.00 300 96 24.24 - - - RPGRIP1 0 genome.wustl.edu 37 14 21796707 21796707 + Missense_Mutation SNP A A T TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 8060bafc-8b8c-44ba-91ba-8a9035b52f44 14 21796707 21796707 A T SNP RPGRIP1 ENST00000206660 human ensembl 69_37n +1 known missense c.3020 p.H1007L 1.000 NULL pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors RPGRIP1 HGNC ENSG00000092200 216 0 0.00 41 111 73.03 - - - RPGRIP1 0 genome.wustl.edu 37 14 21796707 21796707 + Missense_Mutation SNP A A T TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-11A-42D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 9b12ed02-9183-4b84-b638-fd56f00f411a 14 21796707 21796707 A T SNP RPGRIP1 ENST00000206660 human ensembl 69_37n +1 known missense c.3020 p.H1007L 1.000 NULL pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors RPGRIP1 HGNC ENSG00000092200 269 0 0.00 41 111 73.03 - - - SMCR8 0 genome.wustl.edu 37 17 18221324 18221324 + Missense_Mutation SNP G G A TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 8060bafc-8b8c-44ba-91ba-8a9035b52f44 17 18221324 18221324 G A SNP SMCR8 ENST00000406438 human ensembl 69_37n +1 known missense c.2221 p.A741T 0.280 NULL pfam_Folliculin - no_errors SMCR8 HGNC ENSG00000176994 156 0 0.00 77 35 31.25 - - - SMCR8 0 genome.wustl.edu 37 17 18221324 18221324 + Missense_Mutation SNP G G A TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-11A-42D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 9b12ed02-9183-4b84-b638-fd56f00f411a 17 18221324 18221324 G A SNP SMCR8 ENST00000406438 human ensembl 69_37n +1 known missense c.2221 p.A741T 0.280 NULL pfam_Folliculin - no_errors SMCR8 HGNC ENSG00000176994 112 0 0.00 77 35 31.25 - - - SNAI1 0 genome.wustl.edu 37 20 48604456 48604456 + Missense_Mutation SNP C C T TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 8060bafc-8b8c-44ba-91ba-8a9035b52f44 20 48604456 48604456 C T SNP SNAI1 ENST00000244050 human ensembl 69_37n +1 known missense c.658 p.R220C 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI1 HGNC ENSG00000124216 165 0 0.00 83 34 29.06 - - - SNAI1 0 genome.wustl.edu 37 20 48604456 48604456 + Missense_Mutation SNP C C T TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-11A-42D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 9b12ed02-9183-4b84-b638-fd56f00f411a 20 48604456 48604456 C T SNP SNAI1 ENST00000244050 human ensembl 69_37n +1 known missense c.658 p.R220C 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI1 HGNC ENSG00000124216 79 0 0.00 83 34 29.06 - - - SPHK2 0 genome.wustl.edu 37 19 49129267 49129267 + Silent SNP C C T TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 8060bafc-8b8c-44ba-91ba-8a9035b52f44 19 49129267 49129267 C T SNP SPHK2 ENST00000443164 human ensembl 69_37n +1 known silent c.345 p.G115 1.000 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK2 HGNC ENSG00000063176 18 0 0.00 13 5 27.78 - - - SPHK2 0 genome.wustl.edu 37 19 49129267 49129267 + Silent SNP C C T TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-11A-42D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 9b12ed02-9183-4b84-b638-fd56f00f411a 19 49129267 49129267 C T SNP SPHK2 ENST00000443164 human ensembl 69_37n +1 known silent c.345 p.G115 1.000 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK2 HGNC ENSG00000063176 8 0 0.00 13 5 27.78 - - - TFAP2A 0 genome.wustl.edu 37 6 10410138 10410138 + Missense_Mutation SNP A A G TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 8060bafc-8b8c-44ba-91ba-8a9035b52f44 6 10410138 10410138 A G SNP TFAP2A ENST00000379604 human ensembl 69_37n -1 known missense c.476 p.V159A 1.000 NULL pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N - no_errors TFAP2A HGNC ENSG00000137203 37 0 0.00 37 9 19.57 - - - TFAP2A 0 genome.wustl.edu 37 6 10410138 10410138 + Missense_Mutation SNP A A G TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-11A-42D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 9b12ed02-9183-4b84-b638-fd56f00f411a 6 10410138 10410138 A G SNP TFAP2A ENST00000379604 human ensembl 69_37n -1 known missense c.476 p.V159A 1.000 NULL pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N - no_errors TFAP2A HGNC ENSG00000137203 28 0 0.00 37 9 19.57 - - - TRPC1 0 genome.wustl.edu 37 3 142503607 142503607 + Missense_Mutation SNP G G A TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 8060bafc-8b8c-44ba-91ba-8a9035b52f44 3 142503607 142503607 G A SNP TRPC1 ENST00000476941 human ensembl 69_37n +1 known missense c.1022 p.G341D 1.000 tigrfam_TRP_channel pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC1 HGNC ENSG00000144935 226 1 0.44 196 142 42.01 - - - TRPC1 0 genome.wustl.edu 37 3 142503607 142503607 + Missense_Mutation SNP G G A TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-11A-42D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 9b12ed02-9183-4b84-b638-fd56f00f411a 3 142503607 142503607 G A SNP TRPC1 ENST00000476941 human ensembl 69_37n +1 known missense c.1022 p.G341D 1.000 tigrfam_TRP_channel pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC1 HGNC ENSG00000144935 274 0 0.00 196 142 42.01 - - - VAV1 0 genome.wustl.edu 37 19 6833625 6833625 + Missense_Mutation SNP G G A TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 8060bafc-8b8c-44ba-91ba-8a9035b52f44 19 6833625 6833625 G A SNP VAV1 ENST00000304076 human ensembl 69_37n +1 known missense c.1697 p.R566Q 0.665 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin - no_errors VAV1 HGNC ENSG00000141968 384 0 0.00 303 80 20.89 - - - VAV1 0 genome.wustl.edu 37 19 6833625 6833625 + Missense_Mutation SNP G G A TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-11A-42D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 9b12ed02-9183-4b84-b638-fd56f00f411a 19 6833625 6833625 G A SNP VAV1 ENST00000304076 human ensembl 69_37n +1 known missense c.1697 p.R566Q 0.665 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin - no_errors VAV1 HGNC ENSG00000141968 340 1 0.29 303 80 20.89 - - - WDR44 0 genome.wustl.edu 37 X 117540916 117540916 + Missense_Mutation SNP C C T TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 8060bafc-8b8c-44ba-91ba-8a9035b52f44 X 117540916 117540916 C T SNP WDR44 ENST00000254029 human ensembl 69_37n +1 known missense c.1460 p.A487V 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR44 HGNC ENSG00000131725 468 0 0.00 292 153 34.38 - - - WDR44 0 genome.wustl.edu 37 X 117540916 117540916 + Missense_Mutation SNP C C T TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-11A-42D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 9b12ed02-9183-4b84-b638-fd56f00f411a X 117540916 117540916 C T SNP WDR44 ENST00000254029 human ensembl 69_37n +1 known missense c.1460 p.A487V 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR44 HGNC ENSG00000131725 559 0 0.00 292 153 34.38 - - - YSK4 0 genome.wustl.edu 37 2 135745195 135745195 + Missense_Mutation SNP G G C TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 8060bafc-8b8c-44ba-91ba-8a9035b52f44 2 135745195 135745195 G C SNP YSK4 ENST00000375845 human ensembl 69_37n -1 known missense c.1247 p.A416G 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors YSK4 HGNC ENSG00000176601 215 0 0.00 152 41 21.24 - - - YSK4 0 genome.wustl.edu 37 2 135745195 135745195 + Missense_Mutation SNP G G C TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-11A-42D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9ad889c-2135-40e3-97e6-c022d7eb6a92 9b12ed02-9183-4b84-b638-fd56f00f411a 2 135745195 135745195 G C SNP YSK4 ENST00000375845 human ensembl 69_37n -1 known missense c.1247 p.A416G 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors YSK4 HGNC ENSG00000176601 337 0 0.00 152 41 21.24 - - -