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 AAK1 0 genome.wustl.edu 37 2 69870164 69870166 + In_Frame_Del DEL CTT CTT - TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 2 69870164 69870166 CTT - DEL AAK1 ENST00000409085 human ensembl 69_37n -1 known in_frame_del c.9_7 p.K3in_frame_del 1.000:1.000:1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors AAK1 HGNC ENSG00000115977 29 0 0.00 27 9 25.00 - - - ADAM2 0 genome.wustl.edu 37 8 39695672 39695672 + Silent SNP G G A TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 8 39695672 39695672 G A SNP ADAM2 ENST00000265708 human ensembl 69_37n -1 known silent c.33 p.L11 0.073 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM2 HGNC ENSG00000104755 220 0 0.00 98 40 28.78 - - - AGAP2 0 genome.wustl.edu 37 12 58125611 58125611 + Missense_Mutation SNP C C A TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 12 58125611 58125611 C A SNP AGAP2 ENST00000547588 human ensembl 69_37n -1 known missense c.1934 p.R645L 0.999 NULL pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP2 HGNC ENSG00000135439 50 0 0.00 29 10 25.64 - - - AKR1CL1 0 genome.wustl.edu 37 10 5200861 5200861 + Missense_Mutation SNP C C A TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 10 5200861 5200861 C A SNP AKR1CL1 ENST00000473890 human ensembl 69_37n -1 novel missense c.101 p.C34F 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1CL1 HGNC ENSG00000196326 13 0 0.00 8 6 42.86 - - - ARHGAP31 0 genome.wustl.edu 37 3 119099788 119099788 + Missense_Mutation SNP C C A TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 3 119099788 119099788 C A SNP ARHGAP31 ENST00000264245 human ensembl 69_37n +1 known missense c.386 p.A129D 0.999 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 157 0 0.00 129 34 20.73 - - - ARHGEF25 0 genome.wustl.edu 37 12 58010663 58010663 + Missense_Mutation SNP G G A TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 12 58010663 58010663 G A SNP ARHGEF25 ENST00000333972 human ensembl 69_37n +1 known missense c.1846 p.E616K 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF25 HGNC ENSG00000240771 272 0 0.00 223 62 21.75 - - - ASZ1 0 genome.wustl.edu 37 7 117021097 117021097 + Missense_Mutation SNP G G C TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 7 117021097 117021097 G C SNP ASZ1 ENST00000284629 human ensembl 69_37n -1 known missense c.913 p.L305V 0.998 pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ASZ1 HGNC ENSG00000154438 244 0 0.00 237 36 13.19 - - - BIRC8 0 genome.wustl.edu 37 19 53793014 53793014 + Missense_Mutation SNP C C T TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 19 53793014 53793014 C T SNP BIRC8 ENST00000426466 human ensembl 69_37n -1 known missense c.614 p.G205E 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC8 HGNC ENSG00000163098 221 1 0.45 161 58 26.48 - - - C1orf94 0 genome.wustl.edu 37 1 34663261 34663261 + Missense_Mutation SNP G G T TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 1 34663261 34663261 G T SNP C1orf94 ENST00000488417 human ensembl 69_37n +1 known missense c.756 p.K252N 0.997 NULL NULL - no_errors C1orf94 HGNC ENSG00000142698 77 0 0.00 26 32 55.17 - - - CACNA1E 0 genome.wustl.edu 37 1 181684488 181684488 + Missense_Mutation SNP G G T TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 1 181684488 181684488 G T SNP CACNA1E ENST00000367573 human ensembl 69_37n +1 known missense c.1186 p.A396S 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 169 0 0.00 240 37 13.36 - - - CATSPERD 0 genome.wustl.edu 37 19 5776305 5776305 + Missense_Mutation SNP C C T TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 19 5776305 5776305 C T SNP CATSPERD ENST00000381624 human ensembl 69_37n +1 known missense c.2075 p.S692L 0.002 NULL superfamily_WD40_repeat_dom - no_errors CATSPERD HGNC ENSG00000174898 129 0 0.00 110 20 15.38 - - - CCDC172 0 genome.wustl.edu 37 10 118117417 118117417 + Missense_Mutation SNP G G T TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 10 118117417 118117417 G T SNP CCDC172 ENST00000333254 human ensembl 69_37n +1 known missense c.620 p.S207I 0.004 NULL NULL - no_errors CCDC172 HGNC ENSG00000182645 210 0 0.00 153 20 11.56 - - - CDCA7L 0 genome.wustl.edu 37 7 21946010 21946010 + Missense_Mutation SNP C C T TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 7 21946010 21946010 C T SNP CDCA7L ENST00000406877 human ensembl 69_37n -1 known missense c.818 p.R273Q 1.000 NULL pfam_Znf-4CXXC_R1 - no_errors CDCA7L HGNC ENSG00000164649 84 0 0.00 86 23 20.72 - - - CDH9 0 genome.wustl.edu 37 5 26885845 26885845 + Missense_Mutation SNP C C T TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 5 26885845 26885845 C T SNP CDH9 ENST00000231021 human ensembl 69_37n -1 known missense c.1760 p.R587H 0.993 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 95 0 0.00 53 36 40.45 - - - CFH 0 genome.wustl.edu 37 1 196694377 196694377 + Missense_Mutation SNP C C A TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 1 196694377 196694377 C A SNP CFH ENST00000367429 human ensembl 69_37n +1 known missense c.1823 p.S608Y 0.020 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 178 0 0.00 222 38 14.56 - - - CHGB 0 genome.wustl.edu 37 20 5903673 5903673 + Missense_Mutation SNP C C G TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 20 5903673 5903673 C G SNP CHGB ENST00000378961 human ensembl 69_37n +1 known missense c.883 p.Q295E 0.997 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGB HGNC ENSG00000089199 73 0 0.00 105 17 13.82 - - - CYB5R2 0 genome.wustl.edu 37 11 7689777 7689777 + Missense_Mutation SNP C C G TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 11 7689777 7689777 C G SNP CYB5R2 ENST00000299498 human ensembl 69_37n -1 known missense c.404 p.R135T 0.890 NULL pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase - no_errors CYB5R2 HGNC ENSG00000166394 347 0 0.00 299 61 16.85 - - - DGKQ 0 genome.wustl.edu 37 4 955823 955823 + Nonstop_Mutation SNP C C G TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 4 955823 955823 C G SNP DGKQ ENST00000509465 human ensembl 69_37n -1 novel nonstop c.2063 p.*688S 0.989 pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ras-assoc,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_DAG/PE-bd - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DGKQ HGNC ENSG00000145214 81 0 0.00 75 11 12.79 - - - DIRC1 0 genome.wustl.edu 37 2 189599494 189599494 + Missense_Mutation SNP C C A TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 2 189599494 189599494 C A SNP DIRC1 ENST00000308100 human ensembl 69_37n -1 known missense c.154 p.A52S 0.000 NULL NULL - no_errors DIRC1 HGNC ENSG00000174325 390 3 0.76 253 69 21.43 - - - DISP1 0 genome.wustl.edu 37 1 223176630 223176630 + Nonsense_Mutation SNP C C T TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 1 223176630 223176630 C T SNP DISP1 ENST00000284476 human ensembl 69_37n +1 known nonsense c.1891 p.R631* 0.935 pfam_Patched,pfam_MMPL-typ,pfscan_SSD pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 116 0 0.00 121 98 44.75 - - - DNAH3 0 genome.wustl.edu 37 16 20976354 20976354 + Missense_Mutation SNP T T G TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 16 20976354 20976354 T G SNP DNAH3 ENST00000261383 human ensembl 69_37n -1 known missense c.8852 p.K2951T 0.004 superfamily_Prefoldin pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 247 0 0.00 187 111 37.25 - - - EFTUD1 0 genome.wustl.edu 37 15 82450123 82450123 + Missense_Mutation SNP G G A TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 15 82450123 82450123 G A SNP EFTUD1 ENST00000268206 human ensembl 69_37n -1 known missense c.1961 p.T654M 1.000 superfamily_Elongation_fac_G/III/V pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Elongation_fac_G/III/V,superfamily_Transl_elong_init/rib_B-barrel,smart_Transl_elong_EFG/EF2_C,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom - no_errors EFTUD1 HGNC ENSG00000140598 263 0 0.00 145 93 39.08 - - - EHBP1 0 genome.wustl.edu 37 2 63169992 63169992 + Missense_Mutation SNP C C G TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 2 63169992 63169992 C G SNP EHBP1 ENST00000263991 human ensembl 69_37n +1 known missense c.1430 p.S477C 1.000 pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1 HGNC ENSG00000115504 119 0 0.00 92 26 22.03 - - - EIF2S1 0 genome.wustl.edu 37 14 67847477 67847477 + Missense_Mutation SNP G G A TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 14 67847477 67847477 G A SNP EIF2S1 ENST00000256383 human ensembl 69_37n +1 known missense c.575 p.R192Q 1.000 pfam_TIF_2_asu,superfamily_TIF2_asu_C pfam_TIF_2_asu,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_TIF2_asu_C,superfamily_TIF2_asu_middle,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors EIF2S1 HGNC ENSG00000134001 103 0 0.00 53 22 29.33 - - - ENTPD4 0 genome.wustl.edu 37 8 23302096 23302096 + Missense_Mutation SNP G G C TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 8 23302096 23302096 G C SNP ENTPD4 ENST00000358689 human ensembl 69_37n -1 known missense c.436 p.P146A 1.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD4 HGNC ENSG00000197217 250 0 0.00 138 38 21.35 - - - EXOC2 0 genome.wustl.edu 37 6 497377 497377 + Missense_Mutation SNP C C G TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 6 497377 497377 C G SNP EXOC2 ENST00000230449 human ensembl 69_37n -1 known missense c.2549 p.G850A 1.000 NULL pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom - no_errors EXOC2 HGNC ENSG00000112685 279 0 0.00 177 37 17.29 - - - FAM117A 0 genome.wustl.edu 37 17 47866424 47866424 + Splice_Site DEL C C - TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 17 47866424 47866424 C - DEL FAM117A ENST00000505159 human ensembl 69_37n -1 known splice_site_del c.NULL NULL 0.992 - - - no_errors FAM117A HGNC ENSG00000121104 22 0 0.00 161 45 21.74 - - - FAM117A 0 genome.wustl.edu 37 17 47866431 47866431 + RNA SNP C C A TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 17 47866431 47866431 C A SNP FAM117A ENST00000505159 human ensembl 69_37n -1 known rna NULL NULL 0.938 - - - no_errors FAM117A HGNC ENSG00000121104 20 0 0.00 144 45 23.81 - - - FAM58A 0 genome.wustl.edu 37 X 152853866 152853866 + Missense_Mutation SNP G G A TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 X 152853866 152853866 G A SNP FAM58A ENST00000406277 human ensembl 69_37n -1 known missense c.698 p.S233F 1.000 superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors FAM58A HGNC ENSG00000147382 382 0 0.00 273 51 15.69 - - - GCN1L1 0 genome.wustl.edu 37 12 120613011 120613011 + Silent SNP C C T TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 12 120613011 120613011 C T SNP GCN1L1 ENST00000300648 human ensembl 69_37n -1 known silent c.1047 p.S349 0.051 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 168 0 0.00 131 29 17.90 - - - GOLGA2P5 0 genome.wustl.edu 37 12 100562921 100562921 + RNA DEL T T - TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 12 100562921 100562921 T - DEL GOLGA2P5 ENST00000421840 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors GOLGA2P5 HGNC ENSG00000238105 25 0 0.00 36 4 10.00 - - - IGSF9 0 genome.wustl.edu 37 1 159900122 159900122 + Silent SNP G G A TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 1 159900122 159900122 G A SNP IGSF9 ENST00000368094 human ensembl 69_37n -1 known silent c.1921 p.L641 0.770 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF9 HGNC ENSG00000085552 61 0 0.00 56 11 16.18 - - - ITLN2 0 genome.wustl.edu 37 1 160920836 160920836 + Nonsense_Mutation SNP G G C TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 1 160920836 160920836 G C SNP ITLN2 ENST00000368029 human ensembl 69_37n -1 known nonsense c.438 p.Y146* 1.000 superfamily_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C - no_errors ITLN2 HGNC ENSG00000158764 219 1 0.45 280 41 12.73 - - - ITPRIP 0 genome.wustl.edu 37 10 106075563 106075563 + Missense_Mutation SNP G G A TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 10 106075563 106075563 G A SNP ITPRIP ENST00000278071 human ensembl 69_37n -1 known missense c.247 p.R83C 0.001 NULL NULL - no_errors ITPRIP HGNC ENSG00000148841 24 0 0.00 24 6 20.00 - - - KCNJ16 0 genome.wustl.edu 37 17 68128510 68128510 + Silent SNP C C T TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 17 68128510 68128510 C T SNP KCNJ16 ENST00000283936 human ensembl 69_37n +1 known silent c.282 p.L94 1.000 pfam_K_chnl_inward-rec_Kir_Cr2,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5,prints_K_chnl_inward-rec_Kir_Cr2 - no_errors KCNJ16 HGNC ENSG00000153822 571 0 0.00 324 106 24.59 - - - KIAA0319 0 genome.wustl.edu 37 6 24566862 24566862 + Missense_Mutation SNP T T C TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 6 24566862 24566862 T C SNP KIAA0319 ENST00000378214 human ensembl 69_37n -1 known missense c.2255 p.Y752C 1.000 pfam_PKD/REJ-like,superfamily_PKD_dom,smart_Fibronectin_type3,smart_PKD/Chitinase_dom pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC ENSG00000137261 128 0 0.00 134 29 17.79 - - - LAMA1 0 genome.wustl.edu 37 18 6942104 6942104 + Missense_Mutation SNP G G A TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 18 6942104 6942104 G A SNP LAMA1 ENST00000389658 human ensembl 69_37n -1 known missense c.9202 p.H3068Y 1.000 superfamily_ConA-like_lec_gl,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 140 0 0.00 83 27 24.55 - - - LPL 0 genome.wustl.edu 37 8 19805748 19805748 + Missense_Mutation SNP C C T TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 8 19805748 19805748 C T SNP LPL ENST00000311322 human ensembl 69_37n +1 known missense c.146 p.T49I 1.000 pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,prints_Lipo_Lipase,tigrfam_Lipo_Lipase pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_Lipo_Lipase,prints_Lipase,tigrfam_Lipo_Lipase - no_errors LPL HGNC ENSG00000175445 249 1 0.40 164 33 16.75 - - - MBTD1 0 genome.wustl.edu 37 17 49270286 49270286 + Missense_Mutation SNP C C T TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 17 49270286 49270286 C T SNP MBTD1 ENST00000415868 human ensembl 69_37n -1 known missense c.1547 p.R516Q 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors MBTD1 HGNC ENSG00000011258 272 1 0.36 343 134 28.09 - - - MTBP 0 genome.wustl.edu 37 8 121468800 121468800 + Missense_Mutation SNP C C G TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 8 121468800 121468800 C G SNP MTBP ENST00000305949 human ensembl 69_37n +1 known missense c.637 p.Q213E 1.000 NULL NULL - no_errors MTBP HGNC ENSG00000172167 202 0 0.00 135 27 16.56 - - - NLRC3 0 genome.wustl.edu 37 16 3611719 3611719 + Missense_Mutation SNP G G A TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 16 3611719 3611719 G A SNP NLRC3 ENST00000448023 human ensembl 69_37n -1 known missense c.2140 p.R714C 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 71 0 0.00 87 13 12.87 - - - NXPE2 0 genome.wustl.edu 37 11 114569175 114569175 + Missense_Mutation SNP C C G TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 11 114569175 114569175 C G SNP NXPE2 ENST00000389586 human ensembl 69_37n +1 known missense c.541 p.L181V 0.962 superfamily_Ig_E-set superfamily_Ig_E-set - no_errors NXPE2 HGNC ENSG00000204361 251 0 0.00 151 63 29.44 - - - OMD 0 genome.wustl.edu 37 9 95178955 95178956 + Frame_Shift_Ins INS - - TGCT TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 9 95178955 95178956 - TGCT INS OMD ENST00000375550 human ensembl 69_37n -1 known frame_shift_ins c.886_885 p.F295fs 1.000:0.998 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors OMD HGNC ENSG00000127083 259 0 0.00 203 28 12.12 - - - OR11H6 0 genome.wustl.edu 37 14 20691885 20691885 + Missense_Mutation SNP A A T TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 14 20691885 20691885 A T SNP OR11H6 ENST00000315519 human ensembl 69_37n +1 known missense c.17 p.H6L 0.728 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR11H6 HGNC ENSG00000176219 80 0 0.00 58 19 24.68 - - - OR7G1 0 genome.wustl.edu 37 19 9226091 9226091 + Missense_Mutation SNP C C A TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 19 9226091 9226091 C A SNP OR7G1 ENST00000293614 human ensembl 69_37n -1 known missense c.349 p.V117F 0.011 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 OR7G1 HGNC ENSG00000161807 218 0 0.00 190 53 21.81 - - - PAQR9 0 genome.wustl.edu 37 3 142681942 142681942 + Missense_Mutation SNP C C G TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 3 142681942 142681942 C G SNP PAQR9 ENST00000340634 human ensembl 69_37n -1 known missense c.237 p.K79N 1.000 NULL pfam_HlyIII-related - no_errors PAQR9 HGNC ENSG00000188582 89 0 0.00 61 10 14.08 - - - PCDHB6 0 genome.wustl.edu 37 5 140531491 140531491 + Silent SNP C C T TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 5 140531491 140531491 C T SNP PCDHB6 ENST00000231136 human ensembl 69_37n +1 known silent c.1653 p.D551 0.997 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 42 0 0.00 33 11 25.00 - - - PDILT 0 genome.wustl.edu 37 16 20387489 20387489 + Missense_Mutation SNP C C G TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 16 20387489 20387489 C G SNP PDILT ENST00000302451 human ensembl 69_37n -1 known missense c.444 p.L148F 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors PDILT HGNC ENSG00000169340 204 0 0.00 139 65 31.86 - - - PHYH 0 genome.wustl.edu 37 10 13320306 13320306 + Missense_Mutation SNP G G C TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 10 13320306 13320306 G C SNP PHYH ENST00000263038 human ensembl 69_37n -1 known missense c.1012 p.L338V 1.000 NULL pfam_Phytyl_CoA_dOase - no_errors PHYH HGNC ENSG00000107537 301 0 0.00 384 118 23.51 - - - PIGB 0 genome.wustl.edu 37 15 55647072 55647072 + Missense_Mutation SNP G G A TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 15 55647072 55647072 G A SNP PIGB ENST00000164305 human ensembl 69_37n +1 known missense c.1414 p.E472K 1.000 NULL pfam_GPI_mannosylTrfase - no_errors PIGB HGNC ENSG00000069943 259 0 0.00 151 47 23.74 - - - PIK3CA 0 genome.wustl.edu 37 3 178952075 178952075 + Missense_Mutation SNP A A T TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 3 178952075 178952075 A T SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3130 p.N1044Y 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_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 201 0 0.00 110 74 40.22 - - - PPIP5K2 0 genome.wustl.edu 37 5 102482291 102482291 + Missense_Mutation SNP C C T TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 5 102482291 102482291 C T SNP PPIP5K2 ENST00000358359 human ensembl 69_37n +1 known missense c.548 p.P183L 1.000 NULL pfam_His_Pase_superF_clade-2 - no_errors PPIP5K2 HGNC ENSG00000145725 307 2 0.65 294 54 15.47 - - - RAB21 0 genome.wustl.edu 37 12 72176409 72176409 + Missense_Mutation SNP T T C TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 12 72176409 72176409 T C SNP RAB21 ENST00000261263 human ensembl 69_37n +1 known missense c.506 p.I169T 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB21 HGNC ENSG00000080371 408 1 0.24 335 67 16.54 - - - RNF139 0 genome.wustl.edu 37 8 125498596 125498596 + Missense_Mutation SNP G G A TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 8 125498596 125498596 G A SNP RNF139 ENST00000303545 human ensembl 69_37n +1 known missense c.706 p.D236N 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF139 HGNC ENSG00000170881 212 1 0.47 200 47 18.73 - - - RPL17-C18ORF32 0 genome.wustl.edu 37 18 47015767 47015767 + Missense_Mutation SNP C C T TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 18 47015767 47015767 C T SNP RPL17-C18ORF32 ENST00000418495 human ensembl 69_37n -1 known missense c.469 p.V157I 1.000 NULL pfam_Ribosomal_L22,superfamily_Ribosomal_L22,tigrfam_Ribosomal_L22/L17_euk/arc - no_errors RP11-110H1.2 Clone_based_vega_gene ENSG00000215472 448 1 0.22 393 73 15.67 - - - RSAD1 0 genome.wustl.edu 37 17 48560768 48560768 + Missense_Mutation SNP G G T TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 17 48560768 48560768 G T SNP RSAD1 ENST00000515221 human ensembl 69_37n +1 known missense c.569 p.W190L 1.000 NULL NULL - no_errors RSAD1 HGNC ENSG00000136444 101 1 0.98 144 19 11.59 - - - RYR2 0 genome.wustl.edu 37 1 237777585 237777585 + Silent SNP C C T TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 1 237777585 237777585 C T SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known silent c.5151 p.L1717 0.901 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,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,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 81 0 0.00 83 21 20.19 - - - SCN5A 0 genome.wustl.edu 37 3 38592777 38592777 + Missense_Mutation SNP T T C TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 3 38592777 38592777 T C SNP SCN5A ENST00000333535 human ensembl 69_37n -1 known missense c.5086 p.T1696A 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 178 1 0.53 141 49 24.87 - - - SETD2 0 genome.wustl.edu 37 3 47158198 47158198 + Missense_Mutation SNP A A G TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 3 47158198 47158198 A G SNP SETD2 ENST00000409792 human ensembl 69_37n -1 known missense c.4501 p.C1501R 1.000 smart_AWS,pfscan_AWS pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP - no_errors SETD2 HGNC ENSG00000181555 273 2 0.72 152 35 18.72 - - - SLC22A18 0 genome.wustl.edu 37 11 2943415 2943415 + Silent SNP C C A TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 11 2943415 2943415 C A SNP SLC22A18 ENST00000312221 human ensembl 69_37n +1 known silent c.948 p.I316 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors SLC22A18 HGNC ENSG00000110628 64 0 0.00 48 24 33.33 - - - SLC7A7 0 genome.wustl.edu 37 14 23248035 23248035 + Missense_Mutation SNP T T G TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 14 23248035 23248035 T G SNP SLC7A7 ENST00000285850 human ensembl 69_37n -1 known missense c.737 p.N246T 1.000 pfam_AA-permease_dom,pirsf_AA/rel_permease1 pfam_AA-permease_dom,pirsf_AA/rel_permease1 - no_errors SLC7A7 HGNC ENSG00000155465 205 0 0.00 168 49 22.37 - - - SLCO6A1 0 genome.wustl.edu 37 5 101813402 101813402 + Silent SNP T T A TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 5 101813402 101813402 T A SNP SLCO6A1 ENST00000379807 human ensembl 69_37n -1 known silent c.780 p.T260 0.001 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 191 1 0.52 139 50 26.46 - - - SMG1 0 genome.wustl.edu 37 16 18903661 18903662 + Frame_Shift_Ins INS - - AA TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 16 18903661 18903662 - AA INS SMG1 ENST00000389467 human ensembl 69_37n -1 known frame_shift_ins c.428_427 p.Y143fs 1.000:1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 190 0 0.00 142 29 16.96 - - - SORCS3 0 genome.wustl.edu 37 10 106737218 106737218 + Silent SNP G G A TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 10 106737218 106737218 G A SNP SORCS3 ENST00000369701 human ensembl 69_37n +1 known silent c.921 p.E307 0.998 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 254 0 0.00 199 45 18.44 - - - SRCAP 0 genome.wustl.edu 37 16 30724033 30724033 + Missense_Mutation SNP C C G TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 16 30724033 30724033 C G SNP SRCAP ENST00000262518 human ensembl 69_37n +1 known missense c.2027 p.T676S 1.000 pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 285 0 0.00 248 61 19.68 - - - SYCP2 0 genome.wustl.edu 37 20 58444998 58444998 + Missense_Mutation SNP C C G TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 20 58444998 58444998 C G SNP SYCP2 ENST00000357552 human ensembl 69_37n -1 known missense c.3596 p.R1199T 0.000 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 369 0 0.00 524 68 11.49 - - - SYNPO 0 genome.wustl.edu 37 5 150028362 150028362 + Silent SNP G G A TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 5 150028362 150028362 G A SNP SYNPO ENST00000394243 human ensembl 69_37n +1 known silent c.1257 p.T419 0.000 NULL NULL - no_errors SYNPO HGNC ENSG00000171992 170 1 0.58 121 28 18.54 - - - THRA 0 genome.wustl.edu 37 17 38230773 38230773 + Missense_Mutation SNP G G T TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 17 38230773 38230773 G T SNP THRA ENST00000264637 human ensembl 69_37n +1 known missense c.32 p.G11V 1.000 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRA HGNC ENSG00000126351 205 2 0.96 691 235 25.35 - - - UTP14A 0 genome.wustl.edu 37 X 129063526 129063526 + Missense_Mutation SNP A A T TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 X 129063526 129063526 A T SNP UTP14A ENST00000394422 human ensembl 69_37n +1 known missense c.2258 p.N753I 0.132 NULL pfam_SSU_processome_Utp14 - no_errors UTP14A HGNC ENSG00000156697 260 0 0.00 188 23 10.90 - - - WDFY3 0 genome.wustl.edu 37 4 85642669 85642669 + Missense_Mutation SNP C C T TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 4 85642669 85642669 C T SNP WDFY3 ENST00000295888 human ensembl 69_37n -1 known missense c.7498 p.E2500K 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 327 0 0.00 253 70 21.67 - - - WDR36 0 genome.wustl.edu 37 5 110447003 110447003 + Missense_Mutation SNP C C A TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 5 110447003 110447003 C A SNP WDR36 ENST00000505303 human ensembl 69_37n +1 novel missense c.1742 p.T581N 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR36 HGNC ENSG00000134987 115 0 0.00 70 19 21.35 - - - XKR3 0 genome.wustl.edu 37 22 17288863 17288863 + Missense_Mutation SNP G G T TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 22 17288863 17288863 G T SNP XKR3 ENST00000331428 human ensembl 69_37n -1 known missense c.101 p.P34H 0.709 NULL pfam_Transport_prot_XK - no_errors XKR3 HGNC ENSG00000172967 194 0 0.00 123 33 21.15 - - - ZNF483 0 genome.wustl.edu 37 9 114305318 114305318 + Silent SNP T T C TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 9 114305318 114305318 T C SNP ZNF483 ENST00000309235 human ensembl 69_37n +1 known silent c.2103 p.S701 0.201 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZNF483 HGNC ENSG00000173258 106 0 0.00 68 25 26.88 - - - ZNF530 0 genome.wustl.edu 37 19 58117885 58117885 + Missense_Mutation SNP C C A TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 19 58117885 58117885 C A SNP ZNF530 ENST00000332854 human ensembl 69_37n +1 known missense c.992 p.S331Y 0.000 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 ZNF530 HGNC ENSG00000183647 272 0 0.00 180 53 22.75 - - - ZSWIM4 0 genome.wustl.edu 37 19 13941680 13941680 + Missense_Mutation SNP C C T TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 703314fe-bfd5-45d5-9ed5-fcdce8a19fd6 e49f6bc1-0933-4500-9068-aa7d8c276b22 19 13941680 13941680 C T SNP ZSWIM4 ENST00000254323 human ensembl 69_37n +1 known missense c.2786 p.S929L 0.997 NULL pfscan_Znf_SWIM - no_errors ZSWIM4 HGNC ENSG00000132003 45 0 0.00 25 12 32.43 - - -