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 ABL2 0 genome.wustl.edu 37 1 179095520 179095520 + Missense_Mutation SNP C C A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 1 179095520 179095520 C A SNP ABL2 ENST00000502732 human ensembl 69_37n -1 known missense c.679 p.D227Y 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL2 HGNC ENSG00000143322 78 0 0.00 37 6 13.95 - - - ACER3 0 genome.wustl.edu 37 11 76726161 76726161 + Missense_Mutation SNP G G C TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 11 76726161 76726161 G C SNP ACER3 ENST00000532485 human ensembl 69_37n +1 known missense c.599 p.R200T 1.000 pfam_Ceramidase pfam_Ceramidase - no_errors ACER3 HGNC ENSG00000078124 165 0 0.00 75 11 12.79 - - - ARMC4 0 genome.wustl.edu 37 10 28273951 28273951 + Missense_Mutation SNP G G A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 10 28273951 28273951 G A SNP ARMC4 ENST00000305242 human ensembl 69_37n -1 known missense c.572 p.S191L 0.687 NULL pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 121 0 0.00 57 11 16.18 - - - ASNSD1 0 genome.wustl.edu 37 2 190535312 190535312 + Missense_Mutation SNP C C G TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 2 190535312 190535312 C G SNP ASNSD1 ENST00000260952 human ensembl 69_37n +1 known missense c.1792 p.L598V 0.397 pfam_Asn_synthase pfam_Asn_synthase - no_errors ASNSD1 HGNC ENSG00000138381 108 0 0.00 78 9 10.34 - - - ATP10B 0 genome.wustl.edu 37 5 160067594 160067594 + Missense_Mutation SNP C C G TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 5 160067594 160067594 C G SNP ATP10B ENST00000327245 human ensembl 69_37n -1 known missense c.874 p.E292Q 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10B HGNC ENSG00000118322 182 0 0.00 87 13 13.00 - - - ATR 0 genome.wustl.edu 37 3 142172007 142172007 + Missense_Mutation SNP G G A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 3 142172007 142172007 G A SNP ATR ENST00000350721 human ensembl 69_37n -1 known missense c.7724 p.A2575V 0.977 smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 307 0 0.00 122 23 15.86 - - - ATXN2 0 genome.wustl.edu 37 12 111991992 111991992 + Missense_Mutation SNP C C T TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 12 111991992 111991992 C T SNP ATXN2 ENST00000377617 human ensembl 69_37n -1 known missense c.798 p.M266I 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2 HGNC ENSG00000204842 81 0 0.00 37 8 17.78 - - - BAI3 0 genome.wustl.edu 37 6 70070933 70070933 + Missense_Mutation SNP G G C TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 6 70070933 70070933 G C SNP BAI3 ENST00000370598 human ensembl 69_37n +1 known missense c.3768 p.L1256F 0.998 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 154 0 0.00 49 13 20.97 - - - C15orf55 0 genome.wustl.edu 37 15 34640323 34640323 + Missense_Mutation SNP C C T TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 15 34640323 34640323 C T SNP C15orf55 ENST00000333756 human ensembl 69_37n +1 known missense c.170 p.P57L 0.635 NULL NULL - no_errors C15orf55 HGNC ENSG00000184507 163 0 0.00 64 12 15.79 - - - C1orf222 0 genome.wustl.edu 37 1 1900265 1900265 + Missense_Mutation SNP C C T TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 1 1900265 1900265 C T SNP C1orf222 ENST00000270720 human ensembl 69_37n -1 known missense c.1054 p.E352K 0.995 NULL NULL - no_errors C1orf222 HGNC ENSG00000142609 216 0 0.00 103 32 23.70 - - - C21orf91 0 genome.wustl.edu 37 21 19190578 19190578 + Missense_Mutation SNP C C A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 21 19190578 19190578 C A SNP C21orf91 ENST00000284881 human ensembl 69_37n -1 known missense c.58 p.V20F 1.000 pfam_EURL_prot pfam_EURL_prot - no_errors C21orf91 HGNC ENSG00000154642 376 0 0.00 174 21 10.77 - - - CAD 0 genome.wustl.edu 37 2 27449820 27449820 + Missense_Mutation SNP G G A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 2 27449820 27449820 G A SNP CAD ENST00000264705 human ensembl 69_37n +1 known missense c.2277 p.M759I 1.000 tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf_euk,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf_euk - no_errors CAD HGNC ENSG00000084774 73 0 0.00 34 7 17.07 - - - CASC5 0 genome.wustl.edu 37 15 40914718 40914718 + Missense_Mutation SNP G G A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 15 40914718 40914718 G A SNP CASC5 ENST00000346991 human ensembl 69_37n +1 known missense c.2334 p.M778I 0.000 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 100 0 0.00 35 16 31.37 - - - CHD4 0 genome.wustl.edu 37 12 6688060 6688060 + Nonsense_Mutation SNP C C A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 12 6688060 6688060 C A SNP CHD4 ENST00000309577 human ensembl 69_37n -1 known nonsense c.5017 p.E1673* 1.000 NULL pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 220 0 0.00 123 18 12.77 - - - CNGA3 0 genome.wustl.edu 37 2 99013187 99013187 + Silent SNP G G A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 2 99013187 99013187 G A SNP CNGA3 ENST00000272602 human ensembl 69_37n +1 known silent c.1554 p.E518 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA3 HGNC ENSG00000144191 101 0 0.00 43 10 18.87 - - - CR1 0 genome.wustl.edu 37 1 207793269 207793269 + Missense_Mutation SNP G G A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 1 207793269 207793269 G A SNP CR1 ENST00000367049 human ensembl 69_37n +1 known missense c.7111 p.E2371K 0.000 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 CR1 HGNC ENSG00000203710 163 0 0.00 88 12 12.00 - - - CRYGC 0 genome.wustl.edu 37 2 208993007 208993007 + Nonsense_Mutation SNP G G A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 2 208993007 208993007 G A SNP CRYGC ENST00000282141 human ensembl 69_37n -1 known nonsense c.445 p.Q149* 0.103 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGC HGNC ENSG00000163254 100 0 0.00 39 11 22.00 - - - DCAF8L2 0 genome.wustl.edu 37 X 27765792 27765792 + Silent SNP G G A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a X 27765792 27765792 G A SNP DCAF8L2 ENST00000451261 human ensembl 69_37n +1 known silent c.780 p.Q260 0.002 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L2 HGNC ENSG00000189186 165 0 0.00 72 10 12.20 - - - DDX49 0 genome.wustl.edu 37 19 19035754 19035754 + Missense_Mutation SNP C C T TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 19 19035754 19035754 C T SNP DDX49 ENST00000438170 human ensembl 69_37n +1 known missense c.701 p.S234F 1.000 smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX49 HGNC ENSG00000105671 41 0 0.00 25 12 32.43 - - - DEFB128 0 genome.wustl.edu 37 20 168643 168643 + Missense_Mutation SNP C C G TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 20 168643 168643 C G SNP DEFB128 ENST00000334391 human ensembl 69_37n -1 known missense c.166 p.D56H 0.000 NULL NULL - no_errors DEFB128 HGNC ENSG00000185982 445 0 0.00 237 36 13.14 - - - DNAH5 0 genome.wustl.edu 37 5 13708337 13708337 + Silent SNP G G A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 5 13708337 13708337 G A SNP DNAH5 ENST00000265104 human ensembl 69_37n -1 known silent c.13233 p.L4411 1.000 pfam_Dynein_heavy pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 203 0 0.00 92 14 13.21 - - - DNAJC25-GNG10 0 genome.wustl.edu 37 9 114429136 114429136 + Missense_Mutation SNP G G C TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 9 114429136 114429136 G C SNP DNAJC25-GNG10 ENST00000374294 human ensembl 69_37n +1 known missense c.378 p.Q126H 1.000 pfam_G-protein_gamma-like_dom,superfamily_DnaJ_N,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom pfam_DnaJ_N,pfam_G-protein_gamma-like_dom,superfamily_DnaJ_N,smart_DnaJ_N,smart_G-protein_gamma-like_dom,pfscan_DnaJ_N,pfscan_G-protein_gamma-like_dom,prints_Hsp_DnaJ,prints_Gprotein-gamma - no_errors DNAJC25-GNG10 HGNC ENSG00000244115 145 0 0.00 68 13 16.05 - - - DYSF 0 genome.wustl.edu 37 2 71871094 71871094 + Splice_Site SNP G G A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 2 71871094 71871094 G A SNP DYSF ENST00000413539 human ensembl 69_37n +1 known splice_site c.4504-1 e42-1 1.000 - - - no_errors DYSF HGNC ENSG00000135636 134 0 0.00 84 15 15.15 - - - EDC4 0 genome.wustl.edu 37 16 67913012 67913012 + Silent SNP C C A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 16 67913012 67913012 C A SNP EDC4 ENST00000358933 human ensembl 69_37n +1 known silent c.1440 p.A480 0.067 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC ENSG00000038358 58 0 0.00 32 7 17.95 - - - EGR2 0 genome.wustl.edu 37 10 64573184 64573184 + Missense_Mutation SNP C C T TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 10 64573184 64573184 C T SNP EGR2 ENST00000242480 human ensembl 69_37n -1 known missense c.1214 p.R405Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR2 HGNC ENSG00000122877 199 0 0.00 82 40 32.79 - - - FAM47A 0 genome.wustl.edu 37 X 34150228 34150228 + Silent SNP G G A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a X 34150228 34150228 G A SNP FAM47A ENST00000346193 human ensembl 69_37n -1 known silent c.168 p.D56 0.020 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 158 0 0.00 79 22 21.78 - - - FAT4 0 genome.wustl.edu 37 4 126412418 126412418 + Missense_Mutation SNP C C G TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 4 126412418 126412418 C G SNP FAT4 ENST00000394329 human ensembl 69_37n +1 known missense c.14441 p.S4814C 0.983 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 45 0 0.00 23 4 14.81 - - - FREM1 0 genome.wustl.edu 37 9 14868949 14868949 + Silent SNP C C T TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 9 14868949 14868949 C T SNP FREM1 ENST00000380881 human ensembl 69_37n -1 known silent c.27 p.A9 0.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 73 0 0.00 24 5 17.24 - - - GABRQ 0 genome.wustl.edu 37 X 151815558 151815558 + Silent SNP C C T TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a X 151815558 151815558 C T SNP GABRQ ENST00000370306 human ensembl 69_37n +1 known silent c.456 p.F152 0.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAt_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABAAb_rcpt,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRQ HGNC ENSG00000147402 308 0 0.00 178 24 11.88 - - - GINS4 0 genome.wustl.edu 37 8 41397268 41397268 + Silent SNP G G A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 8 41397268 41397268 G A SNP GINS4 ENST00000276533 human ensembl 69_37n +1 known silent c.369 p.S123 0.817 pfam_GINS_complex,pirsf_GINS_Sld5 pfam_GINS_complex,pirsf_GINS_Sld5 - no_errors GINS4 HGNC ENSG00000147536 96 0 0.00 47 18 27.69 - - - GNPTAB 0 genome.wustl.edu 37 12 102158936 102158936 + Nonsense_Mutation SNP G G A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 12 102158936 102158936 G A SNP GNPTAB ENST00000299314 human ensembl 69_37n -1 known nonsense c.1759 p.R587* 1.000 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 408 1 0.24 197 31 13.60 - - - GRID2 0 genome.wustl.edu 37 4 94031970 94031970 + Missense_Mutation SNP G G A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 4 94031970 94031970 G A SNP GRID2 ENST00000282020 human ensembl 69_37n +1 known missense c.601 p.E201K 1.000 pfam_ANF_lig-bd_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC ENSG00000152208 195 0 0.00 78 16 17.02 - - - HIST1H2AK 0 genome.wustl.edu 37 6 27805901 27805901 + Missense_Mutation SNP C C T TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 6 27805901 27805901 C T SNP HIST1H2AK ENST00000330180 human ensembl 69_37n -1 known missense c.217 p.D73N 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AK HGNC ENSG00000184348 148 0 0.00 74 13 14.94 - - - HLA-J 0 genome.wustl.edu 37 6 29974373 29974373 + RNA DEL C C - TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 6 29974373 29974373 C - DEL HLA-J ENST00000462773 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors HLA-J HGNC ENSG00000204622 12 0 0.00 4 2 33.33 - - - HTT 0 genome.wustl.edu 37 4 3224137 3224137 + Missense_Mutation SNP G G A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 4 3224137 3224137 G A SNP HTT ENST00000355072 human ensembl 69_37n +1 known missense c.7393 p.E2465K 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 84 0 0.00 59 8 11.94 - - - IGLON5 0 genome.wustl.edu 37 19 51831946 51831946 + Nonsense_Mutation SNP C C G TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 19 51831946 51831946 C G SNP IGLON5 ENST00000270642 human ensembl 69_37n +1 known nonsense c.944 p.S315* 0.930 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors IGLON5 HGNC ENSG00000142549 68 0 0.00 36 5 12.20 - - - IL1RAPL1 0 genome.wustl.edu 37 X 29301288 29301288 + Missense_Mutation SNP C C T TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a X 29301288 29301288 C T SNP IL1RAPL1 ENST00000302196 human ensembl 69_37n +1 known missense c.316 p.R106W 1.000 smart_Ig_sub,pfscan_Ig-like pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,prints_IL1_rcpt_1,pfscan_TIR_dom,pfscan_Ig-like - no_errors IL1RAPL1 HGNC ENSG00000169306 137 0 0.00 59 10 14.49 - - - ISX 0 genome.wustl.edu 37 22 35480375 35480375 + Splice_Site SNP G G C TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 22 35480375 35480375 G C SNP ISX ENST00000308700 human ensembl 69_37n +1 known splice_site c.382-1 e3-1 1.000 - - - no_errors ISX HGNC ENSG00000175329 100 0 0.00 36 5 12.20 - - - KCTD1 0 genome.wustl.edu 37 18 24035810 24035810 + Missense_Mutation SNP C C G TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 18 24035810 24035810 C G SNP KCTD1 ENST00000417602 human ensembl 69_37n -1 known missense c.2495 p.G832A 1.000 NULL pfam_DUF3504,pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD1 HGNC ENSG00000134504 91 0 0.00 38 9 19.15 - - - KIAA1045 0 genome.wustl.edu 37 9 34977582 34977584 + In_Frame_Del DEL CAG CAG - TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 9 34977582 34977584 CAG - DEL KIAA1045 ENST00000242315 human ensembl 69_37n +1 known in_frame_del c.1050_1052 p.S354in_frame_del 1.000:1.000:1.000 NULL superfamily_Znf_FYVE_PHD - no_errors KIAA1045 HGNC ENSG00000122733 48 0 0.00 26 3 10.34 - - - KIAA2022 0 genome.wustl.edu 37 X 73963037 73963037 + Missense_Mutation SNP G G A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a X 73963037 73963037 G A SNP KIAA2022 ENST00000055682 human ensembl 69_37n -1 known missense c.1355 p.A452V 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 216 0 0.00 141 27 16.07 - - - LMO7 0 genome.wustl.edu 37 13 76430698 76430698 + Missense_Mutation SNP C C T TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 13 76430698 76430698 C T SNP LMO7 ENST00000357063 human ensembl 69_37n +1 known missense c.4874 p.S1625L 1.000 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 175 0 0.00 79 12 13.19 - - - LOXHD1 0 genome.wustl.edu 37 18 44104553 44104553 + Silent SNP C C T TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 18 44104553 44104553 C T SNP LOXHD1 ENST00000536736 human ensembl 69_37n -1 known silent c.4752 p.G1584 1.000 NULL pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 - no_errors LOXHD1 HGNC ENSG00000167210 105 0 0.00 43 9 16.98 - - - MDN1 0 genome.wustl.edu 37 6 90371881 90371881 + Missense_Mutation SNP C C G TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 6 90371881 90371881 C G SNP MDN1 ENST00000369393 human ensembl 69_37n -1 known missense c.14490 p.K4830N 0.144 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 773 0 0.00 351 46 11.56 - - - MIR369 0 genome.wustl.edu 37 14 101531971 101531971 + RNA SNP G G A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 14 101531971 101531971 G A SNP MIR369 ENST00000362155 human ensembl 69_37n +1 known rna NULL NULL 0.948 - - - no_errors MIR369 HGNC ENSG00000199025 262 0 0.00 99 22 18.18 - - - MMS19 0 genome.wustl.edu 37 10 99222427 99222427 + Nonsense_Mutation SNP G G T TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 10 99222427 99222427 G T SNP MMS19 ENST00000370782 human ensembl 69_37n -1 known nonsense c.1925 p.S642* 0.333 superfamily_ARM-type_fold pfam_Tscrpt_MMS19_N,superfamily_ARM-type_fold - no_errors MMS19 HGNC ENSG00000155229 235 0 0.00 113 19 14.39 - - - MUC17 0 genome.wustl.edu 37 7 100685492 100685492 + Missense_Mutation SNP C C T TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 7 100685492 100685492 C T SNP MUC17 ENST00000306151 human ensembl 69_37n +1 known missense c.10795 p.P3599S 0.000 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 178 0 0.00 88 32 26.67 - - - MUC4 0 genome.wustl.edu 37 3 195490502 195490502 + Silent SNP G G A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 3 195490502 195490502 G A SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known silent c.14055 p.F4685 0.995 pfam_VWF_type-D,smart_VWF_type-D pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 31 0 0.00 10 5 33.33 - - - MYBPC1 0 genome.wustl.edu 37 12 102040663 102040663 + Missense_Mutation SNP G G C TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 12 102040663 102040663 G C SNP MYBPC1 ENST00000361466 human ensembl 69_37n +1 known missense c.1088 p.R363T 1.000 smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC1 HGNC ENSG00000196091 167 0 0.00 75 19 20.21 - - - MYBPC2 0 genome.wustl.edu 37 19 50945512 50945512 + Missense_Mutation SNP G G C TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 19 50945512 50945512 G C SNP MYBPC2 ENST00000357701 human ensembl 69_37n +1 known missense c.844 p.D282H 1.000 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC2 HGNC ENSG00000086967 100 0 0.00 62 12 16.22 - - - NACA 0 genome.wustl.edu 37 12 57115051 57115051 + Missense_Mutation SNP C C G TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 12 57115051 57115051 C G SNP NACA ENST00000454682 human ensembl 69_37n -1 known missense c.263 p.G88A 0.004 NULL pfam_Nas_poly-pep-assoc_cplx,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx - no_errors NACA HGNC ENSG00000196531 239 0 0.00 132 28 17.50 - - - NBAS 0 genome.wustl.edu 37 2 15374758 15374758 + Missense_Mutation SNP C C T TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 2 15374758 15374758 C T SNP NBAS ENST00000442506 human ensembl 69_37n -1 novel missense c.3200 p.S1067N 1.000 NULL pfam_Sec39 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NBAS HGNC ENSG00000151779 127 0 0.00 55 8 12.70 - - - NCAPG2 0 genome.wustl.edu 37 7 158449288 158449288 + Nonsense_Mutation SNP C C T TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 7 158449288 158449288 C T SNP NCAPG2 ENST00000441982 human ensembl 69_37n -1 known nonsense c.1575 p.W525* 1.000 pfam_Condensin2_G2 pfam_Condensin2_G2,superfamily_ARM-type_fold - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NCAPG2 HGNC ENSG00000146918 95 0 0.00 52 7 11.86 - - - NLRP13 0 genome.wustl.edu 37 19 56423843 56423843 + Nonsense_Mutation SNP G G C TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 19 56423843 56423843 G C SNP NLRP13 ENST00000342929 human ensembl 69_37n -1 known nonsense c.1340 p.S447* 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC ENSG00000173572 75 0 0.00 87 30 25.64 - - - NLRP13 0 genome.wustl.edu 37 19 56424232 56424232 + Missense_Mutation SNP G G C TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 19 56424232 56424232 G C SNP NLRP13 ENST00000342929 human ensembl 69_37n -1 known missense c.951 p.I317M 0.000 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC ENSG00000173572 103 0 0.00 126 41 24.55 - - - NPAT 0 genome.wustl.edu 37 11 108047018 108047018 + Missense_Mutation SNP C C T TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 11 108047018 108047018 C T SNP NPAT ENST00000278612 human ensembl 69_37n -1 known missense c.1087 p.E363K 1.000 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors NPAT HGNC ENSG00000149308 200 0 0.00 85 11 11.46 - - - NUFIP1 0 genome.wustl.edu 37 13 45540046 45540046 + Missense_Mutation SNP C C G TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 13 45540046 45540046 C G SNP NUFIP1 ENST00000379161 human ensembl 69_37n -1 known missense c.760 p.E254Q 1.000 pfam_NUFIP1_cons_dom pfam_NUFIP1_cons_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors NUFIP1 HGNC ENSG00000083635 438 1 0.23 191 29 13.18 - - - OPRL1 0 genome.wustl.edu 37 20 62729457 62729457 + Missense_Mutation SNP C C G TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 20 62729457 62729457 C G SNP OPRL1 ENST00000336866 human ensembl 69_37n +1 known missense c.536 p.S179C 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_7TM_GPCR_Rhodpsn,prints_Neuropept_W_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_X_opioid_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors OPRL1 HGNC ENSG00000125510 117 0 0.00 76 13 14.61 - - - OR10G4 0 genome.wustl.edu 37 11 123887198 123887198 + Missense_Mutation SNP C C A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 11 123887198 123887198 C A SNP OR10G4 ENST00000320891 human ensembl 69_37n +1 known missense c.917 p.A306E 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10G4 HGNC ENSG00000254737 145 0 0.00 78 13 14.29 - - - OR52N5 0 genome.wustl.edu 37 11 5799262 5799262 + Missense_Mutation SNP G G C TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 11 5799262 5799262 G C SNP OR52N5 ENST00000317093 human ensembl 69_37n -1 known missense c.603 p.I201M 0.261 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt - no_errors OR52N5 HGNC ENSG00000181009 85 0 0.00 56 16 22.22 - - - PCDHA7 0 genome.wustl.edu 37 5 140214152 140214152 + Missense_Mutation SNP C C T TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 5 140214152 140214152 C T SNP PCDHA7 ENST00000525929 human ensembl 69_37n +1 known missense c.184 p.R62C 0.996 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 83 0 0.00 35 5 12.50 - - - PCDHB7 0 genome.wustl.edu 37 5 140552525 140552525 + Missense_Mutation SNP G G A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 5 140552525 140552525 G A SNP PCDHB7 ENST00000231137 human ensembl 69_37n +1 known missense c.109 p.E37K 0.997 pfam_Cadherin_N,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 289 0 0.00 136 27 16.56 - - - PCDHGB7 0 genome.wustl.edu 37 5 140798033 140798033 + Missense_Mutation SNP G G A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 5 140798033 140798033 G A SNP PCDHGB7 ENST00000398594 human ensembl 69_37n +1 known missense c.607 p.E203K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 76 0 0.00 24 6 20.00 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 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 141 0 0.00 43 30 41.10 - - - PLEC 0 genome.wustl.edu 37 8 145001160 145001160 + Missense_Mutation SNP C C G TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 8 145001160 145001160 C G SNP PLEC ENST00000322810 human ensembl 69_37n -1 known missense c.4341 p.E1447D 0.998 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 88 0 0.00 81 13 13.83 - - - PLXDC1 0 genome.wustl.edu 37 17 37263689 37263689 + Missense_Mutation SNP C C T TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 17 37263689 37263689 C T SNP PLXDC1 ENST00000315392 human ensembl 69_37n -1 known missense c.682 p.D228N 0.067 NULL pfam_Plexin_repeat,superfamily_Plexin-like_fold - no_errors PLXDC1 HGNC ENSG00000161381 90 0 0.00 46 44 48.35 - - - POU6F2 0 genome.wustl.edu 37 7 39503850 39503850 + Silent SNP G G C TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 7 39503850 39503850 G C SNP POU6F2 ENST00000403058 human ensembl 69_37n +1 known silent c.1641 p.L547 1.000 superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific pfam_POU_specific,pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU6F2 HGNC ENSG00000106536 153 0 0.00 77 19 19.79 - - - PTH2R 0 genome.wustl.edu 37 2 209302289 209302289 + Missense_Mutation SNP G G A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 2 209302289 209302289 G A SNP PTH2R ENST00000272847 human ensembl 69_37n +1 known missense c.206 p.G69E 1.000 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors PTH2R HGNC ENSG00000144407 196 0 0.00 83 15 15.31 - - - PTPRQ 0 genome.wustl.edu 37 12 81013271 81013271 + Missense_Mutation SNP A A G TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 12 81013271 81013271 A G SNP PTPRQ ENST00000266688 human ensembl 69_37n +1 known missense c.5327 p.D1776G 1.000 NULL pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRQ HGNC ENSG00000139304 157 0 0.00 97 12 11.01 - - - RGS22 0 genome.wustl.edu 37 8 101092487 101092487 + Missense_Mutation SNP G G C TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 8 101092487 101092487 G C SNP RGS22 ENST00000360863 human ensembl 69_37n -1 known missense c.214 p.L72V 0.995 NULL pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal - no_errors RGS22 HGNC ENSG00000132554 226 0 0.00 134 23 14.65 - - - RYR2 0 genome.wustl.edu 37 1 237897015 237897015 + Missense_Mutation SNP G G A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 1 237897015 237897015 G A SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known missense c.11044 p.E3682K 1.000 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 284 0 0.00 160 20 11.11 - - - SBNO1 0 genome.wustl.edu 37 12 123795660 123795660 + Silent SNP C C G TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 12 123795660 123795660 C G SNP SBNO1 ENST00000420886 human ensembl 69_37n -1 known silent c.3237 p.L1079 0.998 NULL pfam_Helicase/UvrB_dom,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 157 0 0.00 65 8 10.96 - - - SEMA3A 0 genome.wustl.edu 37 7 83634727 83634727 + Missense_Mutation SNP G G C TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 7 83634727 83634727 G C SNP SEMA3A ENST00000265362 human ensembl 69_37n -1 known missense c.1288 p.Q430E 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3A HGNC ENSG00000075213 302 0 0.00 135 15 10.00 - - - SEMA3C 0 genome.wustl.edu 37 7 80418802 80418802 + Nonsense_Mutation SNP C C A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 7 80418802 80418802 C A SNP SEMA3C ENST00000544525 human ensembl 69_37n -1 known nonsense c.1228 p.E410* 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Ig_I-set,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3C HGNC ENSG00000075223 266 0 0.00 148 21 12.43 - - - SEMA3E 0 genome.wustl.edu 37 7 83119463 83119463 + Silent SNP G G A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 7 83119463 83119463 G A SNP SEMA3E ENST00000307792 human ensembl 69_37n -1 known silent c.243 p.L81 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3E HGNC ENSG00000170381 186 0 0.00 105 16 13.22 - - - SLC34A3 0 genome.wustl.edu 37 9 140126583 140126583 + Nonsense_Mutation SNP C C T TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 9 140126583 140126583 C T SNP SLC34A3 ENST00000361134 human ensembl 69_37n +1 known nonsense c.145 p.Q49* 0.999 NULL pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A3 HGNC ENSG00000198569 51 0 0.00 19 5 20.83 - - - SMO 0 genome.wustl.edu 37 7 128850818 128850818 + Silent SNP G G A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 7 128850818 128850818 G A SNP SMO ENST00000249373 human ensembl 69_37n +1 known silent c.1665 p.Q555 1.000 NULL pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors SMO HGNC ENSG00000128602 54 0 0.00 21 6 22.22 - - - SOD1 0 genome.wustl.edu 37 21 33039646 33039646 + Missense_Mutation SNP C C G TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 21 33039646 33039646 C G SNP SOD1 ENST00000270142 human ensembl 69_37n +1 known missense c.315 p.I105M 0.015 pfam_SOD_Cu_Zn_dom,superfamily_SOD_Cu_Zn_dom,prints_SOD_Cu_Zn_dom pfam_SOD_Cu_Zn_dom,superfamily_SOD_Cu_Zn_dom,prints_SOD_Cu_Zn_dom - no_errors SOD1 HGNC ENSG00000142168 441 0 0.00 177 30 14.49 - - - SPINK2 0 genome.wustl.edu 37 4 57677909 57677909 + Missense_Mutation SNP C C G TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 4 57677909 57677909 C G SNP SPINK2 ENST00000248701 human ensembl 69_37n -1 known missense c.151 p.V51L 0.984 pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,smart_Prot_inh_Kazal pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,smart_Prot_inh_Kazal - no_errors SPINK2 HGNC ENSG00000128040 106 0 0.00 41 8 16.33 - - - SRBD1 0 genome.wustl.edu 37 2 45789854 45789854 + Silent SNP C C T TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 2 45789854 45789854 C T SNP SRBD1 ENST00000263736 human ensembl 69_37n -1 known silent c.1347 p.T449 0.995 NULL pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SRBD1 HGNC ENSG00000068784 263 0 0.00 87 35 28.69 - - - STON1-GTF2A1L 0 genome.wustl.edu 37 2 48808551 48808551 + Missense_Mutation SNP C C G TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 2 48808551 48808551 C G SNP STON1-GTF2A1L ENST00000309827 human ensembl 69_37n +1 known missense c.779 p.S260C 0.537 NULL pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1-GTF2A1L HGNC ENSG00000068781 104 0 0.00 47 12 20.34 - - - TAF1L 0 genome.wustl.edu 37 9 32634886 32634886 + Missense_Mutation SNP A A G TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 9 32634886 32634886 A G SNP TAF1L ENST00000242310 human ensembl 69_37n -1 known missense c.692 p.L231S 0.999 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 283 0 0.00 135 37 21.51 - - - TAS2R9 0 genome.wustl.edu 37 12 10962482 10962482 + Missense_Mutation SNP C C T TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 12 10962482 10962482 C T SNP TAS2R9 ENST00000240691 human ensembl 69_37n -1 known missense c.193 p.D65N 0.262 pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors TAS2R9 HGNC ENSG00000121381 83 0 0.00 54 9 14.29 - - - TBCD 0 genome.wustl.edu 37 17 80767627 80767627 + Missense_Mutation SNP G G A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 17 80767627 80767627 G A SNP TBCD ENST00000355528 human ensembl 69_37n +1 known missense c.1192 p.D398N 0.999 superfamily_ARM-type_fold pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold - no_errors TBCD HGNC ENSG00000141556 236 0 0.00 105 14 11.76 - - - TG 0 genome.wustl.edu 37 8 133945871 133945871 + Missense_Mutation SNP G G T TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 8 133945871 133945871 G T SNP TG ENST00000220616 human ensembl 69_37n +1 known missense c.4882 p.D1628Y 1.000 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 238 0 0.00 101 22 17.89 - - - THBS3 0 genome.wustl.edu 37 1 155167681 155167681 + Silent SNP G G C TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 1 155167681 155167681 G C SNP THBS3 ENST00000368378 human ensembl 69_37n -1 known silent c.2292 p.G764 1.000 pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors THBS3 HGNC ENSG00000169231 218 0 0.00 126 21 14.29 - - - TLN1 0 genome.wustl.edu 37 9 35722140 35722140 + Nonsense_Mutation SNP G G T TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 9 35722140 35722140 G T SNP TLN1 ENST00000314888 human ensembl 69_37n -1 known nonsense c.924 p.Y308* 0.383 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ - no_errors TLN1 HGNC ENSG00000137076 142 0 0.00 76 13 14.61 - - - TLN1 0 genome.wustl.edu 37 9 35722141 35722141 + Missense_Mutation SNP T T C TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 9 35722141 35722141 T C SNP TLN1 ENST00000314888 human ensembl 69_37n -1 known missense c.923 p.Y308C 0.998 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ - no_errors TLN1 HGNC ENSG00000137076 146 0 0.00 74 13 14.94 - - - TMC5 0 genome.wustl.edu 37 16 19501758 19501759 + Frame_Shift_Del DEL CT CT - TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 16 19501758 19501759 CT - DEL TMC5 ENST00000396229 human ensembl 69_37n +1 known frame_shift_del c.2615_2616 p.F874fs 0.870:0.130 NULL pfam_TMC - no_errors TMC5 HGNC ENSG00000103534 256 0 0.00 146 20 11.98 - - - TMPRSS11E 0 genome.wustl.edu 37 4 69334622 69334622 + Missense_Mutation SNP C C A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 4 69334622 69334622 C A SNP TMPRSS11E ENST00000305363 human ensembl 69_37n +1 known missense c.284 p.P95Q 0.000 pirsf_Pept_S1A_HAT/DESC1,pfam_SEA,pfscan_SEA pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1_S6,pfam_SEA,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_SEA,pfscan_Peptidase_S1_S6 - no_errors TMPRSS11E HGNC ENSG00000087128 125 0 0.00 181 34 15.81 - - - TNRC18 0 genome.wustl.edu 37 7 5399197 5399197 + Silent SNP C C T TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 7 5399197 5399197 C T SNP TNRC18 ENST00000399537 human ensembl 69_37n -1 known silent c.4665 p.L1555 1.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 187 0 0.00 88 15 14.56 - - - TP53 0 genome.wustl.edu 37 17 7577124 7577124 + Missense_Mutation SNP C C T TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 17 7577124 7577124 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.814 p.V272M 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 168 0 0.00 61 32 34.41 - - - TRIM42 0 genome.wustl.edu 37 3 140401809 140401809 + Missense_Mutation SNP G G A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 3 140401809 140401809 G A SNP TRIM42 ENST00000286349 human ensembl 69_37n +1 known missense c.847 p.E283K 0.465 NULL pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM42 HGNC ENSG00000155890 178 0 0.00 77 14 15.05 - - - TRIM8 0 genome.wustl.edu 37 10 104416924 104416924 + Missense_Mutation SNP C C G TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 10 104416924 104416924 C G SNP TRIM8 ENST00000302424 human ensembl 69_37n +1 known missense c.1469 p.S490C 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors TRIM8 HGNC ENSG00000171206 36 0 0.00 18 4 18.18 - - - TTC39C 0 genome.wustl.edu 37 18 21712496 21712496 + Silent SNP C C T TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 18 21712496 21712496 C T SNP TTC39C ENST00000317571 human ensembl 69_37n +1 known silent c.1710 p.I570 1.000 NULL pfam_OMP_IML2_mit/TPR_39,pfam_Cohesin_loading_factor - no_errors TTC39C HGNC ENSG00000168234 156 0 0.00 74 9 10.84 - - - UBAC1 0 genome.wustl.edu 37 9 138845595 138845595 + Silent SNP G G C TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 9 138845595 138845595 G C SNP UBAC1 ENST00000371756 human ensembl 69_37n -1 known silent c.264 p.V88 0.988 NULL pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAC1 HGNC ENSG00000130560 126 0 0.00 69 11 13.75 - - - UBN2 0 genome.wustl.edu 37 7 138944054 138944054 + Missense_Mutation SNP G G A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 7 138944054 138944054 G A SNP UBN2 ENST00000483726 human ensembl 69_37n +1 putative missense c.149 p.G50E 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region UBN2 HGNC ENSG00000157741 265 0 0.00 184 27 12.80 - - - ULBP3 0 genome.wustl.edu 37 6 150387233 150387233 + Missense_Mutation SNP C C G TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 6 150387233 150387233 C G SNP ULBP3 ENST00000367339 human ensembl 69_37n -1 known missense c.154 p.E52Q 0.004 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors ULBP3 HGNC ENSG00000131019 190 0 0.00 74 16 17.78 - - - UNC5C 0 genome.wustl.edu 37 4 96123917 96123917 + Missense_Mutation SNP C C T TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 4 96123917 96123917 C T SNP UNC5C ENST00000453304 human ensembl 69_37n -1 known missense c.2101 p.V701I 1.000 NULL pfam_ZU5,pfam_Death,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5C HGNC ENSG00000182168 136 0 0.00 32 13 28.89 - - - USH2A 0 genome.wustl.edu 37 1 216246562 216246562 + Missense_Mutation SNP T T C TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 1 216246562 216246562 T C SNP USH2A ENST00000366943 human ensembl 69_37n -1 known missense c.5653 p.R1885G 1.000 superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Laminin_G 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 91 0 0.00 68 12 15.00 - - - USH2A 0 genome.wustl.edu 37 1 216498908 216498908 + Silent SNP G G A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 1 216498908 216498908 G A SNP USH2A ENST00000366943 human ensembl 69_37n -1 known silent c.882 p.L294 0.000 smart_Laminin_N,pfscan_Laminin_N 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 66 0 0.00 28 6 17.65 - - - VSTM4 0 genome.wustl.edu 37 10 50294067 50294067 + Silent SNP G G C TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 10 50294067 50294067 G C SNP VSTM4 ENST00000332853 human ensembl 69_37n -1 known silent c.459 p.V153 1.000 smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors VSTM4 HGNC ENSG00000165633 124 0 0.00 62 29 31.87 - - - WDR67 0 genome.wustl.edu 37 8 124132400 124132400 + Silent SNP C C T TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 8 124132400 124132400 C T SNP WDR67 ENST00000287380 human ensembl 69_37n +1 known silent c.1542 p.I514 1.000 pfam_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom - no_errors WDR67 HGNC ENSG00000156787 264 0 0.00 132 17 11.41 - - - WWC1 0 genome.wustl.edu 37 5 167855767 167855767 + Missense_Mutation SNP G G A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 5 167855767 167855767 G A SNP WWC1 ENST00000265293 human ensembl 69_37n +1 known missense c.1975 p.A659T 0.071 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors WWC1 HGNC ENSG00000113645 192 0 0.00 88 13 12.87 - - - YES1 0 genome.wustl.edu 37 18 756691 756691 + Missense_Mutation SNP G G A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 18 756691 756691 G A SNP YES1 ENST00000314574 human ensembl 69_37n -1 known missense c.137 p.S46L 0.109 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors YES1 HGNC ENSG00000176105 264 0 0.00 117 22 15.83 - - - ZIC3 0 genome.wustl.edu 37 X 136652162 136652162 + Missense_Mutation SNP C C G TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a X 136652162 136652162 C G SNP ZIC3 ENST00000287538 human ensembl 69_37n +1 known missense c.1337 p.S446C 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC3 HGNC ENSG00000156925 112 0 0.00 91 14 13.33 - - - ZNF667 0 genome.wustl.edu 37 19 56953658 56953658 + Nonsense_Mutation SNP G G A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 19 56953658 56953658 G A SNP ZNF667 ENST00000342634 human ensembl 69_37n -1 known nonsense c.1090 p.Q364* 0.000 smart_Znf_C2H2-like 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 ZNF667 HGNC ENSG00000198046 223 0 0.00 191 27 12.39 - - - ZNF772 0 genome.wustl.edu 37 19 57984669 57984669 + Missense_Mutation SNP C C A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 19 57984669 57984669 C A SNP ZNF772 ENST00000343280 human ensembl 69_37n -1 known missense c.1443 p.W481C 0.645 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 ZNF772 HGNC ENSG00000197128 127 0 0.00 85 14 14.14 - - - ZNF808 0 genome.wustl.edu 37 19 53057385 53057385 + Missense_Mutation SNP A A G TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7822a6b1-68c8-4675-993c-c4b54a510c09 62188c38-1f49-4f09-bd46-f60922cd3e4a 19 53057385 53057385 A G SNP ZNF808 ENST00000487863 human ensembl 69_37n +1 known missense c.1009 p.K337E 0.124 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF808 HGNC ENSG00000198482 193 0 0.00 116 27 18.88 - - -