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 ABCC4 0 genome.wustl.edu 37 13 95847154 95847154 + Missense_Mutation SNP C C T TCGA-GM-A2DI-01A-31D-A18P-09 TCGA-GM-A2DI-11A-13D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a01d9f40-0c3c-4b36-a7fa-b1e755529402 9f237983-cac7-4eda-9ec8-a6c733f9c177 13 95847154 95847154 C T SNP ABCC4 ENST00000376887 human ensembl 69_37n -1 known missense c.1199 p.R400H 0.000 superfamily_ABC_transptrTM_dom_typ1 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,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 49 0 0.00 48 9 15.79 - - - ACTR10 0 genome.wustl.edu 37 14 58690363 58690363 + Missense_Mutation SNP C C G TCGA-GM-A2DI-01A-31D-A18P-09 TCGA-GM-A2DI-11A-13D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a01d9f40-0c3c-4b36-a7fa-b1e755529402 9f237983-cac7-4eda-9ec8-a6c733f9c177 14 58690363 58690363 C G SNP ACTR10 ENST00000254286 human ensembl 69_37n +1 known missense c.658 p.L220V 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like - no_errors ACTR10 HGNC ENSG00000131966 78 0 0.00 68 11 13.58 - - - ANKRD17 0 genome.wustl.edu 37 4 73941980 73941980 + Missense_Mutation SNP T T A TCGA-GM-A2DI-01A-31D-A18P-09 TCGA-GM-A2DI-11A-13D-A18P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a01d9f40-0c3c-4b36-a7fa-b1e755529402 9f237983-cac7-4eda-9ec8-a6c733f9c177 4 73941980 73941980 T A SNP ANKRD17 ENST00000358602 human ensembl 69_37n -1 known missense c.7780 p.M2594L 1.000 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKRD17 HGNC ENSG00000132466 49 0 0.00 40 5 11.11 - - - ANO2 0 genome.wustl.edu 37 12 5853403 5853403 + Missense_Mutation SNP G G A TCGA-GM-A2DI-01A-31D-A18P-09 TCGA-GM-A2DI-11A-13D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a01d9f40-0c3c-4b36-a7fa-b1e755529402 9f237983-cac7-4eda-9ec8-a6c733f9c177 12 5853403 5853403 G A SNP ANO2 ENST00000356134 human ensembl 69_37n -1 known missense c.1262 p.S421L 0.964 pfam_Anoctamin pfam_Anoctamin - no_errors ANO2 HGNC ENSG00000047617 54 0 0.00 69 11 13.75 - - - APC 0 genome.wustl.edu 37 5 112177102 112177102 + Silent SNP C C T TCGA-GM-A2DI-01A-31D-A18P-09 TCGA-GM-A2DI-11A-13D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a01d9f40-0c3c-4b36-a7fa-b1e755529402 9f237983-cac7-4eda-9ec8-a6c733f9c177 5 112177102 112177102 C T SNP APC ENST00000257430 human ensembl 69_37n +1 known silent c.5811 p.S1937 0.998 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 57 0 0.00 51 13 20.31 - - - ATG16L1 0 genome.wustl.edu 37 2 234198929 234198929 + Missense_Mutation SNP G G A TCGA-GM-A2DI-01A-31D-A18P-09 TCGA-GM-A2DI-11A-13D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a01d9f40-0c3c-4b36-a7fa-b1e755529402 9f237983-cac7-4eda-9ec8-a6c733f9c177 2 234198929 234198929 G A SNP ATG16L1 ENST00000392017 human ensembl 69_37n +1 known missense c.1360 p.D454N 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Autophagy-rel_prot_16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ATG16L1 HGNC ENSG00000085978 54 0 0.00 84 15 15.15 - - - BRWD3 0 genome.wustl.edu 37 X 79951434 79951434 + Missense_Mutation SNP C C T TCGA-GM-A2DI-01A-31D-A18P-09 TCGA-GM-A2DI-11A-13D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a01d9f40-0c3c-4b36-a7fa-b1e755529402 9f237983-cac7-4eda-9ec8-a6c733f9c177 X 79951434 79951434 C T SNP BRWD3 ENST00000373275 human ensembl 69_37n -1 known missense c.3124 p.E1042K 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 62 0 0.00 45 9 16.67 - - - C21orf59 0 genome.wustl.edu 37 21 33974174 33974174 + Silent SNP C C T TCGA-GM-A2DI-01A-31D-A18P-09 TCGA-GM-A2DI-11A-13D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a01d9f40-0c3c-4b36-a7fa-b1e755529402 9f237983-cac7-4eda-9ec8-a6c733f9c177 21 33974174 33974174 C T SNP C21orf59 ENST00000290155 human ensembl 69_37n -1 known silent c.872 p.*291 1.000 NULL pfam_DUF2870 - no_errors C21orf59 HGNC ENSG00000159079 90 0 0.00 71 13 15.48 - - - DAD1 0 genome.wustl.edu 37 14 23057891 23057891 + Missense_Mutation SNP G G A TCGA-GM-A2DI-01A-31D-A18P-09 TCGA-GM-A2DI-11A-13D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a01d9f40-0c3c-4b36-a7fa-b1e755529402 9f237983-cac7-4eda-9ec8-a6c733f9c177 14 23057891 23057891 G A SNP DAD1 ENST00000250498 human ensembl 69_37n -1 known missense c.173 p.S58L 1.000 pfam_DAD,pirsf_DAD pfam_DAD,pirsf_DAD - no_errors DAD1 HGNC ENSG00000129562 25 0 0.00 28 7 20.00 - - - DNAJC14 0 genome.wustl.edu 37 12 56217190 56217190 + Missense_Mutation SNP C C T TCGA-GM-A2DI-01A-31D-A18P-09 TCGA-GM-A2DI-11A-13D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a01d9f40-0c3c-4b36-a7fa-b1e755529402 9f237983-cac7-4eda-9ec8-a6c733f9c177 12 56217190 56217190 C T SNP DNAJC14 ENST00000317269 human ensembl 69_37n -1 known missense c.1510 p.E504K 1.000 pfam_DnaJ_N,pfscan_DnaJ_N pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC14 HGNC ENSG00000135392 52 0 0.00 51 7 12.07 - - - DPYSL3 0 genome.wustl.edu 37 5 146804484 146804484 + Missense_Mutation SNP C C T TCGA-GM-A2DI-01A-31D-A18P-09 TCGA-GM-A2DI-11A-13D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a01d9f40-0c3c-4b36-a7fa-b1e755529402 9f237983-cac7-4eda-9ec8-a6c733f9c177 5 146804484 146804484 C T SNP DPYSL3 ENST00000398514 human ensembl 69_37n -1 known missense c.82 p.D28N 1.000 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL3 HGNC ENSG00000113657 35 0 0.00 43 5 10.42 - - - FCGBP 0 genome.wustl.edu 37 19 40383905 40383905 + Silent SNP G G A TCGA-GM-A2DI-01A-31D-A18P-09 TCGA-GM-A2DI-11A-13D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a01d9f40-0c3c-4b36-a7fa-b1e755529402 9f237983-cac7-4eda-9ec8-a6c733f9c177 19 40383905 40383905 G A SNP FCGBP ENST00000221347 human ensembl 69_37n -1 known silent c.9705 p.C3235 0.488 smart_VWC_out pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 28 0 0.00 22 10 31.25 - - - GRIP1 0 genome.wustl.edu 37 12 66788018 66788018 + Nonsense_Mutation SNP G G C TCGA-GM-A2DI-01A-31D-A18P-09 TCGA-GM-A2DI-11A-13D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a01d9f40-0c3c-4b36-a7fa-b1e755529402 9f237983-cac7-4eda-9ec8-a6c733f9c177 12 66788018 66788018 G C SNP GRIP1 ENST00000359742 human ensembl 69_37n -1 known nonsense c.2099 p.S700* 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 61 0 0.00 64 11 14.67 - - - HIST1H2BC 0 genome.wustl.edu 37 6 26123919 26123919 + Missense_Mutation SNP C C G TCGA-GM-A2DI-01A-31D-A18P-09 TCGA-GM-A2DI-11A-13D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a01d9f40-0c3c-4b36-a7fa-b1e755529402 9f237983-cac7-4eda-9ec8-a6c733f9c177 6 26123919 26123919 C G SNP HIST1H2BC ENST00000314332 human ensembl 69_37n -1 known missense c.214 p.E72Q 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BC HGNC ENSG00000180596 74 0 0.00 81 9 10.00 - - - HTT 0 genome.wustl.edu 37 4 3176466 3176466 + Missense_Mutation SNP G G C TCGA-GM-A2DI-01A-31D-A18P-09 TCGA-GM-A2DI-11A-13D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a01d9f40-0c3c-4b36-a7fa-b1e755529402 9f237983-cac7-4eda-9ec8-a6c733f9c177 4 3176466 3176466 G C SNP HTT ENST00000355072 human ensembl 69_37n +1 known missense c.4185 p.Q1395H 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 80 0 0.00 66 10 13.16 - - - LRP1B 0 genome.wustl.edu 37 2 141356269 141356269 + Silent SNP C C T TCGA-GM-A2DI-01A-31D-A18P-09 TCGA-GM-A2DI-11A-13D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a01d9f40-0c3c-4b36-a7fa-b1e755529402 9f237983-cac7-4eda-9ec8-a6c733f9c177 2 141356269 141356269 C T SNP LRP1B ENST00000389484 human ensembl 69_37n -1 known silent c.7125 p.E2375 1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC ENSG00000168702 89 0 0.00 77 13 14.44 - - - MYBPC3 0 genome.wustl.edu 37 11 47367798 47367798 + Silent SNP C C T TCGA-GM-A2DI-01A-31D-A18P-09 TCGA-GM-A2DI-11A-13D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a01d9f40-0c3c-4b36-a7fa-b1e755529402 9f237983-cac7-4eda-9ec8-a6c733f9c177 11 47367798 47367798 C T SNP MYBPC3 ENST00000399249 human ensembl 69_37n -1 known silent c.1050 p.K350 0.999 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC3 HGNC ENSG00000134571 43 0 0.00 41 6 12.77 - - - NUP210L 0 genome.wustl.edu 37 1 154062065 154062065 + Silent SNP G G A TCGA-GM-A2DI-01A-31D-A18P-09 TCGA-GM-A2DI-11A-13D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a01d9f40-0c3c-4b36-a7fa-b1e755529402 9f237983-cac7-4eda-9ec8-a6c733f9c177 1 154062065 154062065 G A SNP NUP210L ENST00000368559 human ensembl 69_37n -1 known silent c.2193 p.L731 0.997 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 29 0 0.00 37 8 17.78 - - - PIK3CA 0 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-GM-A2DI-01A-31D-A18P-09 TCGA-GM-A2DI-11A-13D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a01d9f40-0c3c-4b36-a7fa-b1e755529402 9f237983-cac7-4eda-9ec8-a6c733f9c177 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 55 0 0.00 37 5 11.90 - - - SLC36A1 0 genome.wustl.edu 37 5 150858892 150858892 + Missense_Mutation SNP C C T TCGA-GM-A2DI-01A-31D-A18P-09 TCGA-GM-A2DI-11A-13D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a01d9f40-0c3c-4b36-a7fa-b1e755529402 9f237983-cac7-4eda-9ec8-a6c733f9c177 5 150858892 150858892 C T SNP SLC36A1 ENST00000243389 human ensembl 69_37n +1 known missense c.1001 p.S334L 0.991 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A1 HGNC ENSG00000123643 52 0 0.00 65 9 12.16 - - - SLC46A3 0 genome.wustl.edu 37 13 29287565 29287565 + Missense_Mutation SNP C C T TCGA-GM-A2DI-01A-31D-A18P-09 TCGA-GM-A2DI-11A-13D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a01d9f40-0c3c-4b36-a7fa-b1e755529402 9f237983-cac7-4eda-9ec8-a6c733f9c177 13 29287565 29287565 C T SNP SLC46A3 ENST00000266943 human ensembl 69_37n -1 known missense c.312 p.M104I 0.316 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC46A3 HGNC ENSG00000139508 28 0 0.00 31 6 16.22 - - - TMEM120B 0 genome.wustl.edu 37 12 122186340 122186340 + Silent SNP G G A TCGA-GM-A2DI-01A-31D-A18P-09 TCGA-GM-A2DI-11A-13D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a01d9f40-0c3c-4b36-a7fa-b1e755529402 9f237983-cac7-4eda-9ec8-a6c733f9c177 12 122186340 122186340 G A SNP TMEM120B ENST00000342607 human ensembl 69_37n +1 known silent c.297 p.K99 1.000 pfam_TMPIT pfam_TMPIT - no_errors TMEM120B HGNC ENSG00000188735 18 0 0.00 27 7 20.59 - - - TMEM120B 0 genome.wustl.edu 37 12 122199562 122199562 + Missense_Mutation SNP G G T TCGA-GM-A2DI-01A-31D-A18P-09 TCGA-GM-A2DI-11A-13D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a01d9f40-0c3c-4b36-a7fa-b1e755529402 9f237983-cac7-4eda-9ec8-a6c733f9c177 12 122199562 122199562 G T SNP TMEM120B ENST00000342607 human ensembl 69_37n +1 known missense c.469 p.D157Y 0.997 pfam_TMPIT pfam_TMPIT - no_errors TMEM120B HGNC ENSG00000188735 37 0 0.00 42 7 14.29 - - - TP53 0 genome.wustl.edu 37 17 7577500 7577501 + Frame_Shift_Ins INS - - A TCGA-GM-A2DI-01A-31D-A18P-09 TCGA-GM-A2DI-11A-13D-A18P-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a01d9f40-0c3c-4b36-a7fa-b1e755529402 9f237983-cac7-4eda-9ec8-a6c733f9c177 17 7577500 7577501 - A INS TP53 ENST00000269305 human ensembl 69_37n -1 known frame_shift_ins c.781_780 p.S260fs 1.000:1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 39 0 0.00 38 6 13.64 - - - TRIM60 0 genome.wustl.edu 37 4 165962158 165962158 + Missense_Mutation SNP G G C TCGA-GM-A2DI-01A-31D-A18P-09 TCGA-GM-A2DI-11A-13D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a01d9f40-0c3c-4b36-a7fa-b1e755529402 9f237983-cac7-4eda-9ec8-a6c733f9c177 4 165962158 165962158 G C SNP TRIM60 ENST00000341062 human ensembl 69_37n +1 known missense c.934 p.E312Q 0.993 superfamily_ConA-like_lec_gl,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,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 TRIM60 HGNC ENSG00000176979 37 0 0.00 27 4 12.90 - - - USH2A 0 genome.wustl.edu 37 1 215933077 215933077 + Missense_Mutation SNP C C T TCGA-GM-A2DI-01A-31D-A18P-09 TCGA-GM-A2DI-11A-13D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a01d9f40-0c3c-4b36-a7fa-b1e755529402 9f237983-cac7-4eda-9ec8-a6c733f9c177 1 215933077 215933077 C T SNP USH2A ENST00000366943 human ensembl 69_37n -1 known missense c.11156 p.R3719H 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 61 0 0.00 61 8 11.59 - - - WDR44 0 genome.wustl.edu 37 X 117529291 117529291 + Missense_Mutation SNP G G C TCGA-GM-A2DI-01A-31D-A18P-09 TCGA-GM-A2DI-11A-13D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a01d9f40-0c3c-4b36-a7fa-b1e755529402 9f237983-cac7-4eda-9ec8-a6c733f9c177 X 117529291 117529291 G C SNP WDR44 ENST00000254029 human ensembl 69_37n +1 known missense c.1037 p.R346T 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 49 0 0.00 55 13 18.84 - - -