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 ABT1 0 genome.wustl.edu 37 6 26598278 26598278 + Missense_Mutation SNP C C A TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 6 26598278 26598278 C A SNP ABT1 ENST00000274849 human ensembl 69_37n +1 known missense c.378 p.H126Q 1.000 NULL NULL - no_errors ABT1 HGNC ENSG00000146109 30 0 0.00 28 5 15.15 - - - ACVR1 0 genome.wustl.edu 37 2 158655952 158655952 + Silent SNP G G T TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 2 158655952 158655952 G T SNP ACVR1 ENST00000263640 human ensembl 69_37n -1 known silent c.54 p.S18 0.999 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt - no_errors ACVR1 HGNC ENSG00000115170 28 0 0.00 25 4 13.79 - - - AIG1 0 genome.wustl.edu 37 6 143382177 143382177 + Missense_Mutation SNP T T A TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 6 143382177 143382177 T A SNP AIG1 ENST00000275235 human ensembl 69_37n +1 known missense c.115 p.W39R 1.000 pfam_Far-17a_AIG1 pfam_Far-17a_AIG1 - no_errors AIG1 HGNC ENSG00000146416 70 0 0.00 55 40 42.11 - - - AKD1 0 genome.wustl.edu 37 6 109931716 109931716 + Missense_Mutation SNP G G T TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 6 109931716 109931716 G T SNP AKD1 ENST00000424296 human ensembl 69_37n -1 known missense c.1694 p.A565D 0.000 NULL pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase - no_errors AKD1 HGNC ENSG00000155085 81 0 0.00 67 36 34.95 - - - ANKRD22 0 genome.wustl.edu 37 10 90591731 90591731 + Missense_Mutation SNP A A C TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 10 90591731 90591731 A C SNP ANKRD22 ENST00000371930 human ensembl 69_37n -1 known missense c.74 p.V25G 0.023 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD22 HGNC ENSG00000152766 103 0 0.00 40 33 45.21 - - - ANKS1A 0 genome.wustl.edu 37 6 35050934 35050934 + Silent SNP T T C TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 6 35050934 35050934 T C SNP ANKS1A ENST00000360359 human ensembl 69_37n +1 known silent c.2838 p.Y946 0.867 pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1A HGNC ENSG00000064999 46 0 0.00 32 14 30.43 - - - ANLN 0 genome.wustl.edu 37 7 36450289 36450289 + Silent SNP C C G TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 7 36450289 36450289 C G SNP ANLN ENST00000265748 human ensembl 69_37n +1 known silent c.1263 p.T421 0.110 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors ANLN HGNC ENSG00000011426 56 0 0.00 47 16 25.40 - - - BUB1B 0 genome.wustl.edu 37 15 40491905 40491905 + Missense_Mutation SNP C C G TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 15 40491905 40491905 C G SNP BUB1B ENST00000412359 human ensembl 69_37n +1 known missense c.1420 p.Q474E 0.999 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I - no_errors BUB1B HGNC ENSG00000156970 25 0 0.00 21 6 22.22 - - - BUB1B 0 genome.wustl.edu 37 15 40498656 40498656 + Missense_Mutation SNP T T C TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 15 40498656 40498656 T C SNP BUB1B ENST00000412359 human ensembl 69_37n +1 known missense c.2048 p.L683P 1.000 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I - no_errors BUB1B HGNC ENSG00000156970 105 0 0.00 76 35 31.53 - - - C1orf127 0 genome.wustl.edu 37 1 11026510 11026510 + Missense_Mutation SNP A A G TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 1 11026510 11026510 A G SNP C1orf127 ENST00000377004 human ensembl 69_37n -1 known missense c.277 p.S93P 0.001 NULL superfamily_DNA-bd_dom_put - no_errors C1orf127 HGNC ENSG00000175262 40 0 0.00 41 11 21.15 - - - C1orf61 0 genome.wustl.edu 37 1 156386464 156386464 + RNA SNP C C T TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 1 156386464 156386464 C T SNP C1orf61 ENST00000462458 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors C1orf61 HGNC ENSG00000125462 22 0 0.00 19 17 47.22 - - - C2orf71 0 genome.wustl.edu 37 2 29295688 29295688 + Silent SNP A A G TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 2 29295688 29295688 A G SNP C2orf71 ENST00000331664 human ensembl 69_37n -1 novel silent c.1440 p.S480 0.005 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 121 0 0.00 158 30 15.87 - - - C5orf20 0 genome.wustl.edu 37 5 134782577 134782577 + Silent SNP T T C TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 5 134782577 134782577 T C SNP C5orf20 ENST00000503143 human ensembl 69_37n -1 known silent c.222 p.K74 0.001 NULL NULL - no_errors C5orf20 HGNC ENSG00000251380 43 0 0.00 17 15 46.88 - - - CASP9 0 genome.wustl.edu 37 1 15844722 15844722 + Missense_Mutation SNP G G C TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 1 15844722 15844722 G C SNP CASP9 ENST00000333868 human ensembl 69_37n -1 known missense c.301 p.P101A 0.000 pirsf_Caspase_IL-1_beta pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP9 HGNC ENSG00000132906 162 0 0.00 125 41 24.70 - - - CCPG1 0 genome.wustl.edu 37 15 55664092 55664092 + Missense_Mutation SNP G G T TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 15 55664092 55664092 G T SNP CCPG1 ENST00000310958 human ensembl 69_37n -1 known missense c.605 p.P202H 0.018 NULL NULL - no_errors CCPG1 HGNC ENSG00000260916 42 0 0.00 35 4 10.26 - - - CDH23 0 genome.wustl.edu 37 10 73556871 73556871 + Missense_Mutation SNP G G C TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 10 73556871 73556871 G C SNP CDH23 ENST00000224721 human ensembl 69_37n +1 known missense c.6732 p.M2244I 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH23 HGNC ENSG00000107736 110 0 0.00 44 34 43.59 - - - CDK5RAP3 0 genome.wustl.edu 37 17 46057970 46057970 + Missense_Mutation SNP C C A TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 17 46057970 46057970 C A SNP CDK5RAP3 ENST00000338399 human ensembl 69_37n +1 known missense c.1089 p.F363L 1.000 pfam_DUF773 pfam_DUF773 - no_errors CDK5RAP3 HGNC ENSG00000108465 80 0 0.00 71 30 29.70 - - - CKAP5 0 genome.wustl.edu 37 11 46775039 46775039 + Missense_Mutation SNP C C G TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 11 46775039 46775039 C G SNP CKAP5 ENST00000415402 human ensembl 69_37n -1 known missense c.4878 p.Q1626H 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 36 0 0.00 40 8 16.67 - - - CNNM2 0 genome.wustl.edu 37 10 104809536 104809536 + Missense_Mutation SNP G G A TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 10 104809536 104809536 G A SNP CNNM2 ENST00000457502 human ensembl 69_37n +1 known missense c.1694 p.G565E 1.000 NULL pfam_DUF21,superfamily_cNMP-bd-like - no_errors CNNM2 HGNC ENSG00000148842 72 0 0.00 59 13 18.06 - - - COA1 0 genome.wustl.edu 37 7 43680287 43680287 + RNA SNP G G C TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 7 43680287 43680287 G C SNP COA1 ENST00000488813 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors COA1 HGNC ENSG00000106603 21 0 0.00 17 9 34.62 - - - CPA6 0 genome.wustl.edu 37 8 68397009 68397009 + Missense_Mutation SNP T T C TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 8 68397009 68397009 T C SNP CPA6 ENST00000297770 human ensembl 69_37n -1 known missense c.652 p.K218E 0.998 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA6 HGNC ENSG00000165078 27 0 0.00 33 5 13.16 - - - DAPK2 0 genome.wustl.edu 37 15 64200774 64200774 + Missense_Mutation SNP T T C TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 15 64200774 64200774 T C SNP DAPK2 ENST00000261891 human ensembl 69_37n -1 known missense c.1058 p.E353G 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DAPK2 HGNC ENSG00000035664 87 0 0.00 102 26 20.31 - - - DDB2 0 genome.wustl.edu 37 11 47237948 47237948 + Silent SNP G G A TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 11 47237948 47237948 G A SNP DDB2 ENST00000256996 human ensembl 69_37n +1 known silent c.189 p.L63 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DDB2 HGNC ENSG00000134574 43 0 0.00 35 15 30.00 - - - DFNA5 0 genome.wustl.edu 37 7 24745946 24745946 + Missense_Mutation SNP T T C TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 7 24745946 24745946 T C SNP DFNA5 ENST00000342947 human ensembl 69_37n -1 known missense c.1040 p.E347G 0.956 pfam_Gasdermin pfam_Gasdermin - no_errors DFNA5 HGNC ENSG00000105928 41 0 0.00 15 19 55.88 - - - DIAPH2 0 genome.wustl.edu 37 X 96200577 96200577 + Missense_Mutation SNP A A G TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 X 96200577 96200577 A G SNP DIAPH2 ENST00000324765 human ensembl 69_37n +1 known missense c.1496 p.E499G 0.993 NULL pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg - no_errors DIAPH2 HGNC ENSG00000147202 64 0 0.00 62 14 18.42 - - - DIO3OS 0 genome.wustl.edu 37 14 102024322 102024322 + RNA SNP G G T TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 14 102024322 102024322 G T SNP DIO3OS ENST00000554735 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors DIO3OS HGNC ENSG00000258498 55 0 0.00 40 12 23.08 - - - DOCK9 0 genome.wustl.edu 37 13 99478200 99478200 + RNA SNP C C G TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 13 99478200 99478200 C G SNP DOCK9 ENST00000481051 human ensembl 69_37n -1 known rna NULL NULL 0.907 - - - no_errors DOCK9 HGNC ENSG00000088387 73 0 0.00 34 19 35.85 - - - EFR3B 0 genome.wustl.edu 37 2 25354666 25354666 + Missense_Mutation SNP C C T TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 2 25354666 25354666 C T SNP EFR3B ENST00000403714 human ensembl 69_37n +1 known missense c.1033 p.L345F 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors EFR3B HGNC ENSG00000084710 94 0 0.00 108 17 13.60 - - - EPC1 0 genome.wustl.edu 37 10 32573961 32573961 + Missense_Mutation SNP G G T TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 10 32573961 32573961 G T SNP EPC1 ENST00000263062 human ensembl 69_37n -1 known missense c.1409 p.A470D 1.000 NULL pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N - no_errors EPC1 HGNC ENSG00000120616 30 0 0.00 20 3 13.04 - - - ERBB4 0 genome.wustl.edu 37 2 212288987 212288987 + Missense_Mutation SNP G G C TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 2 212288987 212288987 G C SNP ERBB4 ENST00000342788 human ensembl 69_37n -1 known missense c.2759 p.P920R 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ERBB4 HGNC ENSG00000178568 69 0 0.00 59 10 14.49 - - - FARP2 0 genome.wustl.edu 37 2 242381025 242381025 + Missense_Mutation SNP C C A TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 2 242381025 242381025 C A SNP FARP2 ENST00000413432 human ensembl 69_37n +1 novel missense c.526 p.Q176K 0.542 NULL pfam_FERM-adjacent - no_start_codon:no_stop_codon:bad_bp_length_for_coding_region FARP2 HGNC ENSG00000006607 59 0 0.00 39 15 27.78 - - - FBXW7 0 genome.wustl.edu 37 4 153271249 153271249 + Missense_Mutation SNP C C G TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 4 153271249 153271249 C G SNP FBXW7 ENST00000281708 human ensembl 69_37n -1 known missense c.529 p.E177Q 1.000 NULL pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW7 HGNC ENSG00000109670 47 0 0.00 20 10 33.33 - - - FLNA 0 genome.wustl.edu 37 X 153581202 153581202 + Missense_Mutation SNP T T G TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 X 153581202 153581202 T G SNP FLNA ENST00000369850 human ensembl 69_37n -1 known missense c.6317 p.Y2106S 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 74 0 0.00 66 68 50.75 - - - FREM1 0 genome.wustl.edu 37 9 14819423 14819423 + Silent SNP C C G TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 9 14819423 14819423 C G SNP FREM1 ENST00000380881 human ensembl 69_37n -1 known silent c.2358 p.L786 0.998 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 66 0 0.00 96 25 20.66 - - - FUT8 0 genome.wustl.edu 37 14 65878620 65878620 + RNA SNP C C A TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 14 65878620 65878620 C A SNP FUT8 ENST00000549235 human ensembl 69_37n +1 known rna NULL NULL 0.277 - - - no_errors FUT8 HGNC ENSG00000033170 61 0 0.00 56 13 18.84 - - - GABRG1 0 genome.wustl.edu 37 4 46125919 46125919 + Missense_Mutation SNP C C G TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 4 46125919 46125919 C G SNP GABRG1 ENST00000295452 human ensembl 69_37n -1 known missense c.12 p.L4F 0.989 prints_GABBAg1_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG1 HGNC ENSG00000163285 16 0 0.00 9 6 40.00 - - - GAL3ST1 0 genome.wustl.edu 37 22 30951295 30951295 + Missense_Mutation SNP T T G TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 22 30951295 30951295 T G SNP GAL3ST1 ENST00000338911 human ensembl 69_37n -1 known missense c.917 p.H306P 0.539 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase - no_errors GAL3ST1 HGNC ENSG00000128242 106 1 0.93 35 22 38.60 - - - GAS2L2 0 genome.wustl.edu 37 17 34072743 34072743 + Silent SNP G G A TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 17 34072743 34072743 G A SNP GAS2L2 ENST00000254466 human ensembl 69_37n -1 known silent c.1773 p.P591 0.002 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L2 HGNC ENSG00000132139 50 0 0.00 30 21 41.18 - - - GFI1 0 genome.wustl.edu 37 1 92945969 92945969 + Missense_Mutation SNP T T G TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 1 92945969 92945969 T G SNP GFI1 ENST00000294702 human ensembl 69_37n -1 known missense c.860 p.E287A 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GFI1 HGNC ENSG00000162676 74 0 0.00 97 34 25.95 - - - GPNMB 0 genome.wustl.edu 37 7 23300074 23300074 + Splice_Site SNP G G T TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 7 23300074 23300074 G T SNP GPNMB ENST00000381990 human ensembl 69_37n +1 known splice_site c.701-1 e6-1 1.000 - - - no_errors GPNMB HGNC ENSG00000136235 36 0 0.00 30 11 26.83 - - - GPR112 0 genome.wustl.edu 37 X 135405034 135405034 + Silent SNP A A T TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 X 135405034 135405034 A T SNP GPR112 ENST00000370652 human ensembl 69_37n +1 known silent c.168 p.T56 0.978 pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 71 0 0.00 60 22 26.83 - - - HHLA1 0 genome.wustl.edu 37 8 133107850 133107850 + Splice_Site SNP C C G TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 8 133107850 133107850 C G SNP HHLA1 ENST00000414222 human ensembl 69_37n -1 known splice_site c.365-1 e6-1 1.000 - - - no_errors HHLA1 HGNC ENSG00000132297 60 0 0.00 42 21 33.33 - - - HLA-DOA 0 genome.wustl.edu 37 6 32975108 32975108 + Missense_Mutation SNP G G C TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 6 32975108 32975108 G C SNP HLA-DOA ENST00000229829 human ensembl 69_37n -1 known missense c.593 p.A198G 0.000 pfam_Ig_C1-set,smart_Ig_C1-set pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DOA HGNC ENSG00000204252 54 0 0.00 27 15 35.71 - - - HUWE1 0 genome.wustl.edu 37 X 53575991 53575991 + Missense_Mutation SNP C C T TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 X 53575991 53575991 C T SNP HUWE1 ENST00000262854 human ensembl 69_37n -1 known missense c.9964 p.V3322I 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 64 0 0.00 53 13 19.70 - - - IGHE 0 genome.wustl.edu 37 14 106067791 106067791 + Missense_Mutation SNP G G A TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 14 106067791 106067791 G A SNP IGHE ENST00000390541 human ensembl 69_37n -1 known missense c.275 p.S92L 0.004 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like - no_start_codon IGHE HGNC ENSG00000211891 163 0 0.00 69 25 26.60 - - - IGSF21 0 genome.wustl.edu 37 1 18691740 18691740 + Missense_Mutation SNP A A G TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 1 18691740 18691740 A G SNP IGSF21 ENST00000412684 human ensembl 69_37n +1 known missense c.421 p.T141A 0.266 NULL NULL - no_start_codon:pseudogene:no_stop_codon IGSF21 HGNC ENSG00000117154 30 0 0.00 17 7 29.17 - - - IL1RAPL2 0 genome.wustl.edu 37 X 104512185 104512185 + Missense_Mutation SNP G G C TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 X 104512185 104512185 G C SNP IL1RAPL2 ENST00000344799 human ensembl 69_37n +1 known missense c.658 p.G220R 1.000 smart_Ig_sub,pfscan_Ig-like pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_Interleukin-1_rcpt_II - no_errors IL1RAPL2 HGNC ENSG00000189108 39 0 0.00 32 21 39.62 - - - JAG1 0 genome.wustl.edu 37 20 10621851 10621851 + Missense_Mutation SNP C C G TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 20 10621851 10621851 C G SNP JAG1 ENST00000254958 human ensembl 69_37n -1 known missense c.2958 p.L986F 1.000 NULL pfam_EGF-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EGF-like,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 36 0 0.00 32 6 15.79 - - - KCTD14 0 genome.wustl.edu 37 11 77728118 77728118 + Missense_Mutation SNP G G C TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 11 77728118 77728118 G C SNP KCTD14 ENST00000353172 human ensembl 69_37n -1 known missense c.289 p.Q97E 0.998 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD14 HGNC ENSG00000151364 37 0 0.00 44 16 26.67 - - - KLHL5 0 genome.wustl.edu 37 4 39104910 39104910 + Missense_Mutation SNP C C A TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 4 39104910 39104910 C A SNP KLHL5 ENST00000359687 human ensembl 69_37n +1 known missense c.1442 p.A481E 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL5 HGNC ENSG00000109790 39 0 0.00 31 13 29.55 - - - LCMT2 0 genome.wustl.edu 37 15 43622236 43622236 + Missense_Mutation SNP T T C TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 15 43622236 43622236 T C SNP LCMT2 ENST00000305641 human ensembl 69_37n -1 known missense c.452 p.E151G 0.705 pfam_LCM_MeTrfase pfam_LCM_MeTrfase - no_errors LCMT2 HGNC ENSG00000168806 23 0 0.00 14 7 33.33 - - - LINC00281 0 genome.wustl.edu 37 22 21663626 21663626 + RNA SNP T T G TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 22 21663626 21663626 T G SNP LINC00281 ENST00000436681 human ensembl 69_37n -1 known rna NULL NULL 0.771 - - - no_errors LINC00281 HGNC ENSG00000206142 36 0 0.00 39 7 15.22 - - - LINC00493 0 genome.wustl.edu 37 20 18548129 18548129 + Missense_Mutation SNP C C G TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 20 18548129 18548129 C G SNP LINC00493 ENST00000411646 human ensembl 69_37n +1 novel missense c.7 p.R3G 0.000 NULL NULL - no_errors LINC00493 HGNC ENSG00000232388 74 0 0.00 77 10 11.49 - - - LRRC8C 0 genome.wustl.edu 37 1 90179573 90179573 + Missense_Mutation SNP C C T TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 1 90179573 90179573 C T SNP LRRC8C ENST00000370454 human ensembl 69_37n +1 known missense c.1444 p.H482Y 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8C HGNC ENSG00000171488 40 0 0.00 43 10 18.87 - - - MACF1 0 genome.wustl.edu 37 1 39950403 39950403 + Splice_Site SNP G G A TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 1 39950403 39950403 G A SNP MACF1 ENST00000317713 human ensembl 69_37n +1 known splice_site c.16036+1 e92+1 1.000 - - - no_errors MACF1 HGNC ENSG00000127603 26 0 0.00 38 8 17.39 - - - MAGED1 0 genome.wustl.edu 37 X 51641057 51641057 + RNA SNP G G T TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 X 51641057 51641057 G T SNP MAGED1 ENST00000485420 human ensembl 69_37n +1 known rna NULL NULL 0.006 - - - no_errors MAGED1 HGNC ENSG00000179222 56 0 0.00 49 8 14.04 - - - MIPOL1 0 genome.wustl.edu 37 14 37739693 37739693 + Missense_Mutation SNP G G C TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 14 37739693 37739693 G C SNP MIPOL1 ENST00000327441 human ensembl 69_37n +1 known missense c.456 p.E152D 0.992 NULL NULL - no_errors MIPOL1 HGNC ENSG00000151338 12 0 0.00 17 4 19.05 - - - MIR548Q 0 genome.wustl.edu 37 10 12767318 12767318 + RNA SNP C C A TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 10 12767318 12767318 C A SNP MIR548Q ENST00000408404 human ensembl 69_37n -1 known rna NULL NULL 0.057 - - - no_errors MIR548Q HGNC ENSG00000221331 54 0 0.00 23 28 53.85 - - - MPP1 0 genome.wustl.edu 37 X 154033610 154033610 + Missense_Mutation SNP G G T TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 X 154033610 154033610 G T SNP MPP1 ENST00000369534 human ensembl 69_37n -1 known missense c.39 p.S13R 1.000 NULL pfam_Guanylate_kin,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP1 HGNC ENSG00000130830 119 0 0.00 131 56 29.95 - - - MTPAP 0 genome.wustl.edu 37 10 30653864 30653864 + Silent SNP A A C TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 10 30653864 30653864 A C SNP MTPAP ENST00000358107 human ensembl 69_37n -1 known silent c.318 p.G106 0.011 NULL pfam_PAP_assoc - no_errors MTPAP HGNC ENSG00000107951 80 0 0.00 40 23 35.94 - - - NOTCH1 0 genome.wustl.edu 37 9 139405185 139405185 + Missense_Mutation SNP G G A TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 9 139405185 139405185 G A SNP NOTCH1 ENST00000277541 human ensembl 69_37n -1 known missense c.2660 p.T887I 0.996 pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_1,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 41 0 0.00 19 14 42.42 - - - NR2C2AP 0 genome.wustl.edu 37 19 19313894 19313894 + RNA SNP G G A TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 19 19313894 19313894 G A SNP NR2C2AP ENST00000590907 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors NR2C2AP HGNC ENSG00000184162 41 0 0.00 49 6 10.91 - - - NRIP1 0 genome.wustl.edu 37 21 16337149 16337149 + Missense_Mutation SNP C C G TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 21 16337149 16337149 C G SNP NRIP1 ENST00000318948 human ensembl 69_37n -1 known missense c.3365 p.R1122T 0.999 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 85 0 0.00 80 12 13.04 - - - OR10A5 0 genome.wustl.edu 37 11 6867817 6867817 + Missense_Mutation SNP C C T TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 11 6867817 6867817 C T SNP OR10A5 ENST00000379831 human ensembl 69_37n +1 known missense c.916 p.L306F 0.262 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10A5 HGNC ENSG00000166363 31 0 0.00 23 16 41.03 - - - OR4M2 0 genome.wustl.edu 37 15 22369004 22369004 + Silent SNP C C A TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 15 22369004 22369004 C A SNP OR4M2 ENST00000332663 human ensembl 69_37n +1 known silent c.429 p.I143 0.031 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4M2 HGNC ENSG00000182974 365 0 0.00 308 39 11.24 - - - OR8B4 0 genome.wustl.edu 37 11 124294625 124294625 + Missense_Mutation SNP A A G TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 11 124294625 124294625 A G SNP OR8B4 ENST00000356130 human ensembl 69_37n -1 putative missense c.143 p.L48S 0.225 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR8B4 HGNC ENSG00000198657 24 0 0.00 16 5 23.81 - - - PCDHB18 0 genome.wustl.edu 37 5 140615248 140615248 + RNA SNP C C T TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 5 140615248 140615248 C T SNP PCDHB18 ENST00000526308 human ensembl 69_37n +1 known rna NULL NULL 0.974 - - - no_errors PCDHB18 HGNC ENSG00000146001 76 0 0.00 44 38 46.34 - - - PHACTR3 0 genome.wustl.edu 37 20 58322830 58322830 + Missense_Mutation SNP G G C TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 20 58322830 58322830 G C SNP PHACTR3 ENST00000371015 human ensembl 69_37n +1 known missense c.298 p.A100P 0.982 smart_RPEL_repeat,pfscan_RPEL_repeat pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR3 HGNC ENSG00000087495 57 0 0.00 31 23 42.59 - - - PIGR 0 genome.wustl.edu 37 1 207110625 207110625 + Missense_Mutation SNP C C T TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 1 207110625 207110625 C T SNP PIGR ENST00000356495 human ensembl 69_37n -1 known missense c.860 p.G287E 0.068 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PIGR HGNC ENSG00000162896 62 0 0.00 99 29 22.66 - - - PKD2L1 0 genome.wustl.edu 37 10 102055882 102055882 + Missense_Mutation SNP G G C TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 10 102055882 102055882 G C SNP PKD2L1 ENST00000318222 human ensembl 69_37n -1 known missense c.1353 p.I451M 1.000 pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2 pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2L1 HGNC ENSG00000107593 77 0 0.00 49 18 26.87 - - - PPIEL 0 genome.wustl.edu 37 1 40011602 40011602 + RNA SNP C C G TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 1 40011602 40011602 C G SNP PPIEL ENST00000440190 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors RP11-69E11.4 Clone_based_vega_gene ENSG00000182109 25 0 0.00 26 15 36.59 - - - PRRT3 0 genome.wustl.edu 37 3 9991723 9991723 + Missense_Mutation SNP A A G TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 3 9991723 9991723 A G SNP PRRT3 ENST00000295984 human ensembl 69_37n -1 known missense c.77 p.L26P 0.983 NULL NULL - no_errors PRRT3 HGNC ENSG00000163704 44 0 0.00 51 14 21.54 - - - RAB23 0 genome.wustl.edu 37 6 57054942 57054942 + RNA SNP A A G TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 6 57054942 57054942 A G SNP RAB23 ENST00000344445 human ensembl 69_37n -1 known rna NULL NULL 0.981 - - - no_errors RAB23 HGNC ENSG00000112210 17 0 0.00 5 12 70.59 - - - RBMXL3 0 genome.wustl.edu 37 X 114425148 114425148 + Missense_Mutation SNP C C T TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 X 114425148 114425148 C T SNP RBMXL3 ENST00000424776 human ensembl 69_37n +1 known missense c.1144 p.R382C 0.001 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC ENSG00000175718 62 0 0.00 57 16 21.92 - - - RPS9 0 genome.wustl.edu 37 19 54735619 54735619 + Missense_Mutation SNP G G A TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 19 54735619 54735619 G A SNP RPS9 ENST00000448962 human ensembl 69_37n +1 known missense c.223 p.G75R 0.008 NULL pfam_Ribosomal_S4/S9_N,tigrfam_Ribosomal_S4/S9_euk/arc - no_errors RPS9 HGNC ENSG00000170889 31 0 0.00 15 3 16.67 - - - SDHAP1 0 genome.wustl.edu 37 3 195711501 195711501 + RNA SNP G G C TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 3 195711501 195711501 G C SNP SDHAP1 ENST00000427841 human ensembl 69_37n -1 known rna NULL NULL 0.999 - - - no_errors SDHAP1 HGNC ENSG00000185485 152 0 0.00 133 16 10.74 - - - SEC63 0 genome.wustl.edu 37 6 108279120 108279120 + Missense_Mutation SNP A A G TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 6 108279120 108279120 A G SNP SEC63 ENST00000369002 human ensembl 69_37n -1 known missense c.94 p.Y32H 0.998 NULL pfam_Sec63-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_ARM-type_fold,smart_DnaJ_N,smart_Sec63-dom,prints_Hsp_DnaJ,pfscan_DnaJ_N - no_errors SEC63 HGNC ENSG00000025796 16 0 0.00 12 6 33.33 - - - SEMA4A 0 genome.wustl.edu 37 1 156146717 156146717 + Missense_Mutation SNP C C G TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 1 156146717 156146717 C G SNP SEMA4A ENST00000355014 human ensembl 69_37n +1 known missense c.2215 p.P739A 0.034 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 SEMA4A HGNC ENSG00000196189 74 0 0.00 106 62 36.90 - - - SEMA6A 0 genome.wustl.edu 37 5 115823874 115823874 + Missense_Mutation SNP G G T TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 5 115823874 115823874 G T SNP SEMA6A ENST00000257414 human ensembl 69_37n -1 known missense c.674 p.A225D 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6A HGNC ENSG00000092421 97 0 0.00 37 28 43.08 - - - SNORA67 0 genome.wustl.edu 37 17 7482194 7482194 + RNA SNP C C G TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 17 7482194 7482194 C G SNP SNORA67 ENST00000581621 human ensembl 69_37n +1 known rna NULL NULL 0.901 - - - no_errors RP11-186B7.4 Clone_based_vega_gene ENSG00000264772 78 0 0.00 35 18 33.96 - - - SPAG17 0 genome.wustl.edu 37 1 118584483 118584483 + Missense_Mutation SNP C C G TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 1 118584483 118584483 C G SNP SPAG17 ENST00000336338 human ensembl 69_37n -1 known missense c.2997 p.K999N 0.000 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 157 0 0.00 113 53 31.93 - - - SZT2 0 genome.wustl.edu 37 1 43889967 43889967 + Missense_Mutation SNP G G A TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 1 43889967 43889967 G A SNP SZT2 ENST00000562955 human ensembl 69_37n +1 known missense c.2335 p.G779S 0.998 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 69 0 0.00 36 40 52.63 - - - TBL1X 0 genome.wustl.edu 37 X 9661204 9661204 + Silent SNP T T C TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 X 9661204 9661204 T C SNP TBL1X ENST00000217964 human ensembl 69_37n +1 known silent c.907 p.L303 0.002 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1X HGNC ENSG00000101849 155 0 0.00 108 55 33.74 - - - TCF20 0 genome.wustl.edu 37 22 42607383 42607383 + Missense_Mutation SNP G G C TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 22 42607383 42607383 G C SNP TCF20 ENST00000359486 human ensembl 69_37n -1 known missense c.3929 p.S1310C 0.940 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 41 0 0.00 46 8 14.81 - - - TECTA 0 genome.wustl.edu 37 11 121016479 121016479 + Missense_Mutation SNP G G T TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 11 121016479 121016479 G T SNP TECTA ENST00000264037 human ensembl 69_37n +1 known missense c.3759 p.E1253D 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_Zona_pellucida_Endoglin/CD105,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105 - no_errors TECTA HGNC ENSG00000109927 103 0 0.00 141 18 11.32 - - - TMCO7 0 genome.wustl.edu 37 16 68901011 68901011 + Missense_Mutation SNP G G T TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 16 68901011 68901011 G T SNP TMCO7 ENST00000261778 human ensembl 69_37n +1 known missense c.882 p.R294S 0.001 NULL pfam_DUF2411,superfamily_ARM-type_fold - no_errors TMCO7 HGNC ENSG00000103047 61 0 0.00 36 4 10.00 - - - TMPRSS5 0 genome.wustl.edu 37 11 113565113 113565113 + RNA SNP G G C TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 11 113565113 113565113 G C SNP TMPRSS5 ENST00000545412 human ensembl 69_37n -1 putative rna NULL NULL 0.002 - - - no_errors TMPRSS5 HGNC ENSG00000166682 34 0 0.00 32 16 33.33 - - - TOE1 0 genome.wustl.edu 37 1 45809422 45809422 + RNA SNP C C G TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 1 45809422 45809422 C G SNP TOE1 ENST00000495703 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors TOE1 HGNC ENSG00000132773 17 0 0.00 18 6 25.00 - - - TP53 0 genome.wustl.edu 37 17 7578527 7578527 + Missense_Mutation SNP A A G TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 17 7578527 7578527 A G SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.403 p.C135R 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 42 0 0.00 22 15 40.54 - - - TPR 0 genome.wustl.edu 37 1 186322968 186322968 + Missense_Mutation SNP T T A TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 1 186322968 186322968 T A SNP TPR ENST00000367478 human ensembl 69_37n -1 known missense c.2186 p.Q729L 1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 88 0 0.00 116 18 13.43 - - - TRAV13-2 0 genome.wustl.edu 37 14 22386766 22386766 + Nonsense_Mutation SNP G G T TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 14 22386766 22386766 G T SNP TRAV13-2 ENST00000390439 human ensembl 69_37n +1 known nonsense c.175 p.E59* 0.022 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon:bad_bp_length_for_coding_region TRAV13-2 HGNC ENSG00000211791 45 0 0.00 30 11 26.83 - - - TRIM26 0 genome.wustl.edu 37 6 30153878 30153878 + Silent SNP G G C TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 6 30153878 30153878 G C SNP TRIM26 ENST00000437089 human ensembl 69_37n -1 known silent c.1395 p.L465 0.044 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM26 HGNC ENSG00000234127 58 0 0.00 64 24 27.27 - - - TTN 0 genome.wustl.edu 37 2 179428450 179428450 + Missense_Mutation SNP G G T TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 2 179428450 179428450 G T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.74705 p.P24902Q 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 99 0 0.00 91 20 18.02 - - - TTN 0 genome.wustl.edu 37 2 179560939 179560939 + Missense_Mutation SNP G G T TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 2 179560939 179560939 G T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.27128 p.T9043N 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 59 0 0.00 43 12 21.82 - - - TTN 0 genome.wustl.edu 37 2 179659960 179659960 + Missense_Mutation SNP T T C TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 2 179659960 179659960 T C SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.934 p.R312G 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 34 0 0.00 38 9 19.15 - - - UBE2I 0 genome.wustl.edu 37 16 1370586 1370586 + Missense_Mutation SNP C C T TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 16 1370586 1370586 C T SNP UBE2I ENST00000402301 human ensembl 69_37n +1 putative missense c.481 p.R161W 0.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2I HGNC ENSG00000103275 46 0 0.00 28 27 49.09 - - - UTP20 0 genome.wustl.edu 37 12 101748661 101748661 + Missense_Mutation SNP G G C TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 12 101748661 101748661 G C SNP UTP20 ENST00000261637 human ensembl 69_37n +1 known missense c.5159 p.R1720P 0.000 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 40 0 0.00 40 13 24.53 - - - WAC 0 genome.wustl.edu 37 10 28872359 28872359 + Missense_Mutation SNP C C G TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 10 28872359 28872359 C G SNP WAC ENST00000354911 human ensembl 69_37n +1 known missense c.306 p.H102Q 1.000 NULL pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors WAC HGNC ENSG00000095787 40 0 0.00 39 13 25.00 - - - ZKSCAN5 0 genome.wustl.edu 37 7 99110156 99110156 + Silent SNP G G A TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 7 99110156 99110156 G A SNP ZKSCAN5 ENST00000326775 human ensembl 69_37n +1 known silent c.495 p.L165 0.002 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN5 HGNC ENSG00000196652 137 0 0.00 112 42 27.27 - - - ZNF169 0 genome.wustl.edu 37 9 97062216 97062216 + Missense_Mutation SNP G G A TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 9 97062216 97062216 G A SNP ZNF169 ENST00000395395 human ensembl 69_37n +1 known missense c.376 p.G126R 0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF169 HGNC ENSG00000175787 27 0 0.00 28 8 22.22 - - - ZNF451 0 genome.wustl.edu 37 6 56965700 56965700 + Missense_Mutation SNP G G C TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 6 56965700 56965700 G C SNP ZNF451 ENST00000370708 human ensembl 69_37n +1 known missense c.486 p.E162D 1.000 NULL pfam_LAP2alpha - no_errors ZNF451 HGNC ENSG00000112200 55 0 0.00 67 33 33.00 - - - ZNF540 0 genome.wustl.edu 37 19 38103256 38103256 + Missense_Mutation SNP G G C TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 19 38103256 38103256 G C SNP ZNF540 ENST00000316433 human ensembl 69_37n +1 known missense c.1075 p.E359Q 0.110 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF540 HGNC ENSG00000171817 46 0 0.00 26 4 13.33 - - - ZNF611 0 genome.wustl.edu 37 19 53208833 53208833 + Missense_Mutation SNP C C A TCGA-A2-A3XT-01A-11D-A22X-09 TCGA-A2-A3XT-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5afb86a-e57a-422a-abdb-6bab20273cc0 47db5812-3372-46bd-a59f-5fac0d3d1a97 19 53208833 53208833 C A SNP ZNF611 ENST00000319783 human ensembl 69_37n -1 known missense c.1475 p.G492V 0.007 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF611 HGNC ENSG00000213020 39 0 0.00 36 4 10.00 - - -