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 ADAMTSL3 0 genome.wustl.edu 37 15 84373178 84373178 + Missense_Mutation SNP C C T TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 15 84373178 84373178 C T SNP ADAMTSL3 ENST00000286744 human ensembl 69_37n +1 known missense c.107 p.P36L 1.000 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 197 0 0.00 242 27 10.04 - - - ALPP 0 genome.wustl.edu 37 2 233246249 233246249 + Missense_Mutation SNP A A G TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 2 233246249 233246249 A G SNP ALPP ENST00000392027 human ensembl 69_37n +1 known missense c.1352 p.E451G 0.001 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPP HGNC ENSG00000163283 19 0 0.00 13 4 23.53 - - - ANKRD12 0 genome.wustl.edu 37 18 9211612 9211612 + Missense_Mutation SNP C C T TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 18 9211612 9211612 C T SNP ANKRD12 ENST00000262126 human ensembl 69_37n +1 known missense c.482 p.T161M 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD12 HGNC ENSG00000101745 199 0 0.00 123 66 34.92 - - - AP4M1 0 genome.wustl.edu 37 7 99701247 99701247 + Missense_Mutation SNP A A G TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 7 99701247 99701247 A G SNP AP4M1 ENST00000359593 human ensembl 69_37n +1 known missense c.475 p.T159A 1.000 pirsf_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP4M1 HGNC ENSG00000221838 158 0 0.00 67 23 25.56 - - - ARAF 0 genome.wustl.edu 37 X 47430771 47430771 + Missense_Mutation SNP G G A TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d X 47430771 47430771 G A SNP ARAF ENST00000377045 human ensembl 69_37n +1 known missense c.1736 p.R579Q 1.000 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors ARAF HGNC ENSG00000078061 34 0 0.00 11 15 57.69 - - - ASMTL 0 genome.wustl.edu 37 X 1522340 1522340 + Missense_Mutation SNP T T G TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d X 1522340 1522340 T G SNP ASMTL ENST00000381317 human ensembl 69_37n -1 known missense c.1688 p.K563T 0.000 pfam_O_MeTrfase_2 pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf - no_errors ASMTL HGNC ENSG00000169093 48 0 0.00 15 9 37.50 - - - AURKAIP1 0 genome.wustl.edu 37 1 1309283 1309283 + Splice_Site SNP C C T TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 1 1309283 1309283 C T SNP AURKAIP1 ENST00000321751 human ensembl 69_37n -1 known splice_site c.499-1 e3-1 0.996 - - - no_errors AURKAIP1 HGNC ENSG00000175756 36 0 0.00 29 10 25.64 - - - C19orf12 0 genome.wustl.edu 37 19 30199322 30199322 + Missense_Mutation SNP G G A TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 19 30199322 30199322 G A SNP C19orf12 ENST00000392278 human ensembl 69_37n -1 known missense c.32 p.T11M 0.000 NULL NULL - no_errors C19orf12 HGNC ENSG00000131943 68 0 0.00 34 16 32.00 - - - C9 0 genome.wustl.edu 37 5 39288989 39288989 + Frame_Shift_Del DEL A A - TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 5 39288989 39288989 A - DEL C9 ENST00000263408 human ensembl 69_37n -1 known frame_shift_del c.1481 p.L494fs 1.000 pfam_MACPF,smart_MACPF,prints_MAC_perforin pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C9 HGNC ENSG00000113600 285 0 0.00 400 68 14.41 - - - CABIN1 0 genome.wustl.edu 37 22 24468359 24468359 + Missense_Mutation SNP C C T TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 22 24468359 24468359 C T SNP CABIN1 ENST00000263119 human ensembl 69_37n +1 known missense c.2531 p.S844L 1.000 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 41 0 0.00 22 37 62.71 - - - CD300A 0 genome.wustl.edu 37 17 72470679 72470679 + Missense_Mutation SNP T T A TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 17 72470679 72470679 T A SNP CD300A ENST00000360141 human ensembl 69_37n +1 known missense c.388 p.S130T 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors CD300A HGNC ENSG00000167851 66 0 0.00 8 11 57.89 - - - CDH12 0 genome.wustl.edu 37 5 21817115 21817115 + Missense_Mutation SNP C C T TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 5 21817115 21817115 C T SNP CDH12 ENST00000382254 human ensembl 69_37n -1 known missense c.941 p.G314E 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH12 HGNC ENSG00000154162 257 0 0.00 419 89 17.45 - - - CYP2C8 0 genome.wustl.edu 37 10 96802742 96802742 + Missense_Mutation SNP C C A TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 10 96802742 96802742 C A SNP CYP2C8 ENST00000371270 human ensembl 69_37n -1 known missense c.1054 p.V352L 0.029 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C8 HGNC ENSG00000138115 234 0 0.00 71 104 59.43 - - - DLC1 0 genome.wustl.edu 37 8 12947852 12947852 + Missense_Mutation SNP C C A TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 8 12947852 12947852 C A SNP DLC1 ENST00000276297 human ensembl 69_37n -1 known missense c.3983 p.C1328F 1.000 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 127 0 0.00 73 23 23.96 - - - FBXO2 0 genome.wustl.edu 37 1 11708857 11708857 + Missense_Mutation SNP G G C TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 1 11708857 11708857 G C SNP FBXO2 ENST00000354287 human ensembl 69_37n -1 known missense c.785 p.P262R 0.998 pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom pfam_F-box-assoc_dom,pfam_F-box_dom_cyclin-like,superfamily_Galactose-bd-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_F-box-assoc_dom - no_errors FBXO2 HGNC ENSG00000116661 29 0 0.00 14 6 30.00 - - - FBXO30 0 genome.wustl.edu 37 6 146127358 146127358 + Missense_Mutation SNP T T G TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 6 146127358 146127358 T G SNP FBXO30 ENST00000237281 human ensembl 69_37n -1 known missense c.184 p.N62H 1.000 superfamily_TRAF-like,pfscan_Znf_TRAF pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,superfamily_TRAF-like,pfscan_F-box_dom_cyclin-like,pfscan_Znf_TRAF - no_errors FBXO30 HGNC ENSG00000118496 153 0 0.00 94 59 38.56 - - - FOXP2 0 genome.wustl.edu 37 7 114066679 114066679 + Missense_Mutation SNP G G A TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 7 114066679 114066679 G A SNP FOXP2 ENST00000408937 human ensembl 69_37n +1 known missense c.113 p.G38D 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP2 HGNC ENSG00000128573 87 0 0.00 45 7 13.46 - - - GBP1P1 0 genome.wustl.edu 37 1 89885865 89885865 + RNA SNP A A G TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 1 89885865 89885865 A G SNP GBP1P1 ENST00000513638 human ensembl 69_37n +1 known rna NULL NULL 0.986 - - - no_errors GBP1P1 HGNC ENSG00000225492 117 0 0.00 64 45 41.28 - - - GHR 0 genome.wustl.edu 37 5 42695133 42695133 + Nonsense_Mutation SNP C C G TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 5 42695133 42695133 C G SNP GHR ENST00000511135 human ensembl 69_37n +1 known nonsense c.251 p.S84* 0.999 NULL NULL - no_errors GHR HGNC ENSG00000112964 235 0 0.00 320 76 19.19 - - - GPR64 0 genome.wustl.edu 37 X 19021075 19021075 + Missense_Mutation SNP C C G TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d X 19021075 19021075 C G SNP GPR64 ENST00000379869 human ensembl 69_37n -1 known missense c.2119 p.V707L 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR64 HGNC ENSG00000173698 125 0 0.00 53 33 38.37 - - - HEATR1 0 genome.wustl.edu 37 1 236738059 236738059 + Nonsense_Mutation SNP C C A TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 1 236738059 236738059 C A SNP HEATR1 ENST00000366582 human ensembl 69_37n -1 known nonsense c.3229 p.E1077* 1.000 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 150 0 0.00 89 38 29.92 - - - HIVEP3 0 genome.wustl.edu 37 1 42047320 42047320 + Missense_Mutation SNP G G A TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 1 42047320 42047320 G A SNP HIVEP3 ENST00000247584 human ensembl 69_37n -1 known missense c.3149 p.S1050F 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 69 0 0.00 33 25 43.10 - - - IGF2R 0 genome.wustl.edu 37 6 160496980 160496980 + Silent SNP C C T TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 6 160496980 160496980 C T SNP IGF2R ENST00000356956 human ensembl 69_37n +1 known silent c.5268 p.F1756 0.998 superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 136 0 0.00 78 37 32.17 - - - INPP5D 0 genome.wustl.edu 37 2 233986963 233986963 + Missense_Mutation SNP C C A TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 2 233986963 233986963 C A SNP INPP5D ENST00000359570 human ensembl 69_37n +1 known missense c.345 p.D115E 0.954 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,prints_SH2,pfscan_SH2 - no_errors INPP5D HGNC ENSG00000168918 55 0 0.00 22 13 37.14 - - - KDM3A 0 genome.wustl.edu 37 2 86707459 86707459 + Missense_Mutation SNP G G A TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 2 86707459 86707459 G A SNP KDM3A ENST00000312912 human ensembl 69_37n +1 known missense c.2486 p.S829N 0.916 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 113 0 0.00 93 44 32.12 - - - KIAA0368 0 genome.wustl.edu 37 9 114176803 114176803 + Silent SNP C C A TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 9 114176803 114176803 C A SNP KIAA0368 ENST00000259335 human ensembl 69_37n -1 known silent c.2427 p.G809 0.894 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA0368 HGNC ENSG00000136813 85 0 0.00 56 30 34.88 - - - KIAA1109 0 genome.wustl.edu 37 4 123109213 123109213 + Missense_Mutation SNP G G T TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 4 123109213 123109213 G T SNP KIAA1109 ENST00000264501 human ensembl 69_37n +1 known missense c.791 p.S264I 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 140 0 0.00 24 61 71.76 - - - KIAA1429 0 genome.wustl.edu 37 8 95541412 95541412 + Missense_Mutation SNP C C T TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 8 95541412 95541412 C T SNP KIAA1429 ENST00000297591 human ensembl 69_37n -1 known missense c.766 p.D256N 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 852 1 0.12 781 336 30.08 - - - KIAA1462 0 genome.wustl.edu 37 10 30317146 30317146 + Missense_Mutation SNP C C T TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 10 30317146 30317146 C T SNP KIAA1462 ENST00000375377 human ensembl 69_37n -1 known missense c.1931 p.R644K 0.011 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 221 0 0.00 209 81 27.93 - - - LRRC34 0 genome.wustl.edu 37 3 169524690 169524690 + Silent SNP G G T TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 3 169524690 169524690 G T SNP LRRC34 ENST00000446859 human ensembl 69_37n -1 known silent c.474 p.L158 0.994 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC34 HGNC ENSG00000171757 194 0 0.00 110 56 33.73 - - - MAP3K11 0 genome.wustl.edu 37 11 65365763 65365763 + Nonstop_Mutation SNP C C G TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 11 65365763 65365763 C G SNP MAP3K11 ENST00000309100 human ensembl 69_37n -1 known nonstop c.2543 p.*848S 0.074 NULL pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors MAP3K11 HGNC ENSG00000173327 18 0 0.00 3 7 70.00 - - - MOB1B 0 genome.wustl.edu 37 4 71840935 71840935 + Missense_Mutation SNP A A G TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 4 71840935 71840935 A G SNP MOB1B ENST00000309395 human ensembl 69_37n +1 known missense c.341 p.Y114C 1.000 pfam_Mob1_phocein,superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB1B HGNC ENSG00000173542 213 0 0.00 123 125 50.20 - - - MPDZ 0 genome.wustl.edu 37 9 13192136 13192136 + Silent SNP T T C TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 9 13192136 13192136 T C SNP MPDZ ENST00000319217 human ensembl 69_37n -1 known silent c.1962 p.T654 0.416 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 376 0 0.00 84 124 59.62 - - - OR4C16 0 genome.wustl.edu 37 11 55339821 55339821 + Missense_Mutation SNP C C A TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 11 55339821 55339821 C A SNP OR4C16 ENST00000314634 human ensembl 69_37n +1 known missense c.218 p.T73N 0.109 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4C16 HGNC ENSG00000181935 267 0 0.00 238 29 10.86 - - - PCDHB11 0 genome.wustl.edu 37 5 140581431 140581431 + Missense_Mutation SNP C C A TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 5 140581431 140581431 C A SNP PCDHB11 ENST00000354757 human ensembl 69_37n +1 known missense c.2084 p.A695D 0.972 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 27 0 0.00 22 7 24.14 - - - PDE3A 0 genome.wustl.edu 37 12 20803395 20803395 + Missense_Mutation SNP G G A TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 12 20803395 20803395 G A SNP PDE3A ENST00000359062 human ensembl 69_37n +1 known missense c.2786 p.G929E 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 348 0 0.00 177 105 37.23 - - - PDZRN3 0 genome.wustl.edu 37 3 73432884 73432884 + Missense_Mutation SNP C C T TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 3 73432884 73432884 C T SNP PDZRN3 ENST00000263666 human ensembl 69_37n -1 known missense c.2833 p.E945K 1.000 NULL pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 33 0 0.00 13 13 50.00 - - - POLR2F 0 genome.wustl.edu 37 22 38355468 38355468 + Missense_Mutation SNP G G A TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 22 38355468 38355468 G A SNP POLR2F ENST00000442738 human ensembl 69_37n +1 known missense c.206 p.R69Q 1.000 pfam_RNA_poly_omega/K/RPABC2,superfamily_RNA_poly_omega/K/RPABC2 pfam_RNA_poly_omega/K/RPABC2,superfamily_RNA_poly_omega/K/RPABC2 - no_errors POLR2F HGNC ENSG00000100142 43 0 0.00 30 20 40.00 - - - POTEF 0 genome.wustl.edu 37 2 130832042 130832042 + Silent SNP G G A TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 2 130832042 130832042 G A SNP POTEF ENST00000357462 human ensembl 69_37n -1 known silent c.3003 p.G1001 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,prints_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors POTEF HGNC ENSG00000196604 9 0 0.00 2 5 71.43 - - - PPFIA2 0 genome.wustl.edu 37 12 81678036 81678036 + Missense_Mutation SNP G G A TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 12 81678036 81678036 G A SNP PPFIA2 ENST00000549396 human ensembl 69_37n -1 known missense c.2972 p.A991V 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 242 0 0.00 159 99 38.37 - - - PPFIA2 0 genome.wustl.edu 37 12 82147913 82147913 + Missense_Mutation SNP G G T TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 12 82147913 82147913 G T SNP PPFIA2 ENST00000549396 human ensembl 69_37n -1 known missense c.88 p.H30N 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 126 0 0.00 51 34 40.00 - - - PUM2 0 genome.wustl.edu 37 2 20455818 20455818 + Silent SNP G G A TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 2 20455818 20455818 G A SNP PUM2 ENST00000361078 human ensembl 69_37n -1 known silent c.2604 p.F868 1.000 superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM2 HGNC ENSG00000055917 269 0 0.00 165 71 30.08 - - - RYR3 0 genome.wustl.edu 37 15 34023837 34023837 + Missense_Mutation SNP C C T TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 15 34023837 34023837 C T SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known missense c.7366 p.R2456C 0.999 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 140 0 0.00 60 29 32.58 - - - SERPINB12 0 genome.wustl.edu 37 18 61233851 61233851 + Missense_Mutation SNP A A T TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 18 61233851 61233851 A T SNP SERPINB12 ENST00000269491 human ensembl 69_37n +1 known missense c.825 p.K275N 0.000 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINB12 HGNC ENSG00000166634 116 0 0.00 140 16 10.19 - - - SGSM1 0 genome.wustl.edu 37 22 25294156 25294156 + Missense_Mutation SNP C C T TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 22 25294156 25294156 C T SNP SGSM1 ENST00000400359 human ensembl 69_37n +1 known missense c.2405 p.T802M 0.000 superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 33 0 0.00 29 7 19.44 - - - SSH2 0 genome.wustl.edu 37 17 27959760 27959760 + Missense_Mutation SNP C C G TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 17 27959760 27959760 C G SNP SSH2 ENST00000269033 human ensembl 69_37n -1 known missense c.2371 p.E791Q 0.990 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 246 0 0.00 292 100 25.45 - - - TARS2 0 genome.wustl.edu 37 1 150476814 150476814 + Missense_Mutation SNP G G C TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 1 150476814 150476814 G C SNP TARS2 ENST00000369064 human ensembl 69_37n +1 known missense c.1621 p.D541H 1.000 pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-synth_IIa,tigrfam_Thr-tRNA-synth_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-synth_IIa,tigrfam_Thr-tRNA-synth_IIa - no_errors TARS2 HGNC ENSG00000143374 61 0 0.00 15 18 54.55 - - - TBKBP1 0 genome.wustl.edu 37 17 45773639 45773639 + Missense_Mutation SNP G G A TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 17 45773639 45773639 G A SNP TBKBP1 ENST00000361722 human ensembl 69_37n +1 known missense c.161 p.R54Q 1.000 NULL NULL - no_errors TBKBP1 HGNC ENSG00000198933 22 0 0.00 5 8 61.54 - - - TGFBR3 0 genome.wustl.edu 37 1 92161237 92161237 + Missense_Mutation SNP G G T TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 1 92161237 92161237 G T SNP TGFBR3 ENST00000212355 human ensembl 69_37n -1 known missense c.2429 p.S810Y 1.000 NULL pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors TGFBR3 HGNC ENSG00000069702 77 0 0.00 39 25 39.06 - - - THSD1 0 genome.wustl.edu 37 13 52971733 52971733 + Silent SNP G G A TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 13 52971733 52971733 G A SNP THSD1 ENST00000258613 human ensembl 69_37n -1 known silent c.655 p.L219 0.784 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC ENSG00000136114 45 0 0.00 34 4 10.53 - - - TP53 0 genome.wustl.edu 37 17 7577547 7577547 + Missense_Mutation SNP C C T TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 17 7577547 7577547 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.734 p.G245D 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 77 0 0.00 12 36 75.00 - - - TTN 0 genome.wustl.edu 37 2 179498336 179498336 + Missense_Mutation SNP C C G TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 2 179498336 179498336 C G SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.35046 p.L11682F 0.057 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like 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 160 0 0.00 83 44 34.65 - - - UBA7 0 genome.wustl.edu 37 3 49847551 49847551 + Missense_Mutation SNP T T G TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 3 49847551 49847551 T G SNP UBA7 ENST00000333486 human ensembl 69_37n -1 known missense c.1699 p.T567P 1.000 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ub-activating_enz_e1_C,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA7 HGNC ENSG00000182179 18 0 0.00 10 6 37.50 - - - ZNF583 0 genome.wustl.edu 37 19 56925731 56925731 + Missense_Mutation SNP C C T TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d88c365f-366a-49d5-9860-b930aab3eb1b 95a2e03d-1cc6-4565-b63f-99c7f2165c4d 19 56925731 56925731 C T SNP ZNF583 ENST00000291598 human ensembl 69_37n +1 known missense c.154 p.P52S 0.784 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF583 HGNC ENSG00000198440 254 0 0.00 470 189 28.68 - - -