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 ACVR1C 0 genome.wustl.edu 37 2 158399221 158399221 + Missense_Mutation SNP T T G TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 2 158399221 158399221 T G SNP ACVR1C ENST00000243349 human ensembl 69_37n -1 known missense c.1097 p.K366T 1.000 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 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ACVR1C HGNC ENSG00000123612 47 0 0.00 46 18 28.12 - - - ANKRD30BL 0 genome.wustl.edu 37 2 133015115 133015115 + RNA SNP A A C TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 2 133015115 133015115 A C SNP ANKRD30BL ENST00000470729 human ensembl 69_37n -1 known rna NULL NULL 0.019 - - - no_errors ANKRD30BL HGNC ENSG00000163046 8 0 0.00 11 4 26.67 - - - ARL6IP6 0 genome.wustl.edu 37 2 153591569 153591569 + Missense_Mutation SNP G G C TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 2 153591569 153591569 G C SNP ARL6IP6 ENST00000326446 human ensembl 69_37n +1 known missense c.516 p.W172C 1.000 NULL NULL - no_errors ARL6IP6 HGNC ENSG00000177917 59 0 0.00 43 13 23.21 - - - ATG16L1 0 genome.wustl.edu 37 2 234201045 234201045 + Missense_Mutation SNP C C G TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 2 234201045 234201045 C G SNP ATG16L1 ENST00000392017 human ensembl 69_37n +1 known missense c.1593 p.F531L 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Autophagy-rel_prot_16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ATG16L1 HGNC ENSG00000085978 66 0 0.00 43 24 35.82 - - - ATP8A2 0 genome.wustl.edu 37 13 26129206 26129206 + Silent SNP G G A TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 13 26129206 26129206 G A SNP ATP8A2 ENST00000381655 human ensembl 69_37n +1 known silent c.1263 p.Q421 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,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 ATP8A2 HGNC ENSG00000132932 32 0 0.00 10 32 76.19 - - - BPTF 0 genome.wustl.edu 37 17 65925540 65925540 + Missense_Mutation SNP G G T TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 17 65925540 65925540 G T SNP BPTF ENST00000321892 human ensembl 69_37n +1 known missense c.6465 p.R2155S 0.993 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 59 0 0.00 80 16 16.67 - - - C12orf56 0 genome.wustl.edu 37 12 64746739 64746739 + Missense_Mutation SNP T T G TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 12 64746739 64746739 T G SNP C12orf56 ENST00000333722 human ensembl 69_37n -1 known missense c.350 p.K117T 0.013 NULL NULL - no_errors C12orf56 HGNC ENSG00000185306 47 0 0.00 51 7 12.07 - - - CAMK2D 0 genome.wustl.edu 37 4 114429417 114429417 + Missense_Mutation SNP T T A TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 4 114429417 114429417 T A SNP CAMK2D ENST00000454265 human ensembl 69_37n -1 known missense c.992 p.K331M 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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 CAMK2D HGNC ENSG00000145349 31 0 0.00 27 11 28.95 - - - CBWD3 0 genome.wustl.edu 37 9 70863777 70863777 + Missense_Mutation SNP G G T TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 9 70863777 70863777 G T SNP CBWD3 ENST00000360171 human ensembl 69_37n +1 known missense c.394 p.D132Y 1.000 pfam_Cbl_biosynth_CobW-like pfam_Cbl_biosynth_CobW-like,pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C,smart_Cbl_biosynth_CobW-like_C - no_errors CBWD3 HGNC ENSG00000196873 9 0 0.00 9 5 35.71 - - - CCDC173 0 genome.wustl.edu 37 2 170537535 170537535 + Missense_Mutation SNP G G C TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 2 170537535 170537535 G C SNP CCDC173 ENST00000447353 human ensembl 69_37n -1 known missense c.276 p.H92Q 0.243 NULL NULL - no_errors CCDC173 HGNC ENSG00000154479 37 0 0.00 23 20 46.51 - - - CCDC88C 0 genome.wustl.edu 37 14 91779648 91779648 + Missense_Mutation SNP C C T TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 14 91779648 91779648 C T SNP CCDC88C ENST00000389857 human ensembl 69_37n -1 known missense c.2512 p.E838K 1.000 superfamily_Prefoldin pfam_HOOK,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 31 0 0.00 22 11 33.33 - - - CDK12 0 genome.wustl.edu 37 17 37627547 37627547 + Nonsense_Mutation SNP G G T TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 17 37627547 37627547 G T SNP CDK12 ENST00000447079 human ensembl 69_37n +1 known nonsense c.1462 p.E488* 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 CDK12 HGNC ENSG00000167258 35 0 0.00 27 24 47.06 - - - CDKAL1 0 genome.wustl.edu 37 6 21198270 21198270 + Frame_Shift_Del DEL G G - TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 6 21198270 21198270 G - DEL CDKAL1 ENST00000274695 human ensembl 69_37n +1 known frame_shift_del c.1318 p.V440fs 1.000 pfam_TRAM_dom,pfscan_TRAM_dom,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase pfam_Methylthiotransferase_N,pfam_rSAM,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase - no_errors CDKAL1 HGNC ENSG00000145996 46 0 0.00 26 8 22.86 - - - CDKAL1 0 genome.wustl.edu 37 6 21198272 21198272 + Silent SNP G G T TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 6 21198272 21198272 G T SNP CDKAL1 ENST00000274695 human ensembl 69_37n +1 known silent c.1320 p.V440 1.000 pfam_TRAM_dom,pfscan_TRAM_dom,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase pfam_Methylthiotransferase_N,pfam_rSAM,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase - no_errors CDKAL1 HGNC ENSG00000145996 47 0 0.00 26 9 25.71 - - - CNGB3 0 genome.wustl.edu 37 8 87588343 87588343 + Missense_Mutation SNP C C T TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 8 87588343 87588343 C T SNP CNGB3 ENST00000320005 human ensembl 69_37n -1 known missense c.2119 p.E707K 0.026 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC ENSG00000170289 55 0 0.00 43 46 51.69 - - - CNTNAP1 0 genome.wustl.edu 37 17 40835917 40835917 + Missense_Mutation SNP C C T TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 17 40835917 40835917 C T SNP CNTNAP1 ENST00000264638 human ensembl 69_37n +1 known missense c.146 p.A49V 0.004 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 15 0 0.00 12 11 47.83 - - - COL6A3 0 genome.wustl.edu 37 2 238262027 238262027 + Missense_Mutation SNP C C A TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 2 238262027 238262027 C A SNP COL6A3 ENST00000295550 human ensembl 69_37n -1 known missense c.6647 p.G2216V 1.000 NULL pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 26 0 0.00 22 16 42.11 - - - COL9A1 0 genome.wustl.edu 37 6 70935663 70935663 + Silent SNP G G A TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 6 70935663 70935663 G A SNP COL9A1 ENST00000357250 human ensembl 69_37n -1 known silent c.2553 p.N851 0.998 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 23 0 0.00 16 5 23.81 - - - CUBN 0 genome.wustl.edu 37 10 17110195 17110195 + Missense_Mutation SNP G G A TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 10 17110195 17110195 G A SNP CUBN ENST00000377833 human ensembl 69_37n -1 known missense c.2876 p.T959I 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 32 0 0.00 36 9 20.00 - - - ERBB2 0 genome.wustl.edu 37 17 37872089 37872089 + Missense_Mutation SNP T T G TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 17 37872089 37872089 T G SNP ERBB2 ENST00000269571 human ensembl 69_37n +1 known missense c.1410 p.H470Q 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ERBB2 HGNC ENSG00000141736 28 0 0.00 16 24 60.00 - - - FAM111A 0 genome.wustl.edu 37 11 58920622 58920622 + Missense_Mutation SNP C C G TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 11 58920622 58920622 C G SNP FAM111A ENST00000361723 human ensembl 69_37n +1 known missense c.1481 p.A494G 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like - no_errors FAM111A HGNC ENSG00000166801 32 0 0.00 15 9 37.50 - - - FAM9B 0 genome.wustl.edu 37 X 9000176 9000176 + Missense_Mutation SNP G G T TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a X 9000176 9000176 G T SNP FAM9B ENST00000327220 human ensembl 69_37n -1 known missense c.176 p.T59N 0.087 NULL pfam_Cor1/Xlr/Xmr - no_errors FAM9B HGNC ENSG00000177138 23 0 0.00 11 10 47.62 - - - FBXW8 0 genome.wustl.edu 37 12 117465283 117465283 + Missense_Mutation SNP C C G TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 12 117465283 117465283 C G SNP FBXW8 ENST00000309909 human ensembl 69_37n +1 known missense c.1626 p.D542E 1.000 NULL pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_Quinonprotein_ADH-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW8 HGNC ENSG00000174989 23 0 0.00 21 7 25.00 - - - GCGR 0 genome.wustl.edu 37 17 79769817 79769817 + Missense_Mutation SNP C C A TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 17 79769817 79769817 C A SNP GCGR ENST00000400723 human ensembl 69_37n +1 known missense c.873 p.N291K 0.036 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_GIP_rcpt 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_glucagon_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt - no_errors GCGR HGNC ENSG00000215644 32 0 0.00 67 9 11.84 - - - GPR32 0 genome.wustl.edu 37 19 51274851 51274851 + Missense_Mutation SNP A A C TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 19 51274851 51274851 A C SNP GPR32 ENST00000270590 human ensembl 69_37n +1 known missense c.994 p.T332P 0.018 prints_Frt_met_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Frt_met_rcpt - no_errors GPR32 HGNC ENSG00000142511 29 0 0.00 27 5 15.62 - - - GRM1 0 genome.wustl.edu 37 6 146480580 146480580 + Missense_Mutation SNP G G T TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 6 146480580 146480580 G T SNP GRM1 ENST00000282753 human ensembl 69_37n +1 known missense c.797 p.G266V 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5,pfscan_GPCR_3_C - no_errors GRM1 HGNC ENSG00000152822 33 0 0.00 26 12 31.58 - - - GRXCR2 0 genome.wustl.edu 37 5 145252322 145252322 + Silent SNP G G A TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 5 145252322 145252322 G A SNP GRXCR2 ENST00000377976 human ensembl 69_37n -1 known silent c.210 p.V70 0.823 NULL NULL - no_errors GRXCR2 HGNC ENSG00000204928 35 0 0.00 24 7 22.58 - - - GSTO2 0 genome.wustl.edu 37 10 106037866 106037866 + Missense_Mutation SNP T T A TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 10 106037866 106037866 T A SNP GSTO2 ENST00000338595 human ensembl 69_37n +1 known missense c.358 p.F120I 1.000 superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold pfam_Glutathione_S-Trfase_N,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_omega - no_errors GSTO2 HGNC ENSG00000065621 33 0 0.00 38 10 20.83 - - - GULP1 0 genome.wustl.edu 37 2 189452661 189452661 + Missense_Mutation SNP A A G TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 2 189452661 189452661 A G SNP GULP1 ENST00000451191 human ensembl 69_37n +1 putative missense c.302 p.N101S 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region GULP1 HGNC ENSG00000144366 68 0 0.00 36 17 32.08 - - - ITLN2 0 genome.wustl.edu 37 1 160921037 160921037 + Silent SNP C C T TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 1 160921037 160921037 C T SNP ITLN2 ENST00000368029 human ensembl 69_37n -1 known silent c.237 p.Q79 1.000 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C - no_errors ITLN2 HGNC ENSG00000158764 24 0 0.00 22 11 33.33 - - - KIFC3 0 genome.wustl.edu 37 16 57828979 57828979 + Nonsense_Mutation SNP G G A TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 16 57828979 57828979 G A SNP KIFC3 ENST00000379655 human ensembl 69_37n -1 known nonsense c.247 p.Q83* 0.989 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC3 HGNC ENSG00000140859 8 0 0.00 15 7 30.43 - - - KLF15 0 genome.wustl.edu 37 3 126070957 126070957 + Missense_Mutation SNP G G A TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 3 126070957 126070957 G A SNP KLF15 ENST00000296233 human ensembl 69_37n -1 known missense c.809 p.S270F 0.996 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF15 HGNC ENSG00000163884 18 0 0.00 19 12 38.71 - - - KRBA2 0 genome.wustl.edu 37 17 8273116 8273116 + Missense_Mutation SNP G G A TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 17 8273116 8273116 G A SNP KRBA2 ENST00000331336 human ensembl 69_37n -1 known missense c.815 p.S272F 0.985 superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core pfam_Krueppel-associated_box,superfamily_RNaseH-like_dom,superfamily_Krueppel-associated_box,pfscan_Integrase_cat-core - no_errors KRBA2 HGNC ENSG00000184619 12 0 0.00 6 9 60.00 - - - KSR1 0 genome.wustl.edu 37 17 25937188 25937188 + Missense_Mutation SNP T T G TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 17 25937188 25937188 T G SNP KSR1 ENST00000319524 human ensembl 69_37n +1 known missense c.2387 p.L796R 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC ENSG00000141068 27 0 0.00 21 18 46.15 - - - LRRTM1 0 genome.wustl.edu 37 2 80530609 80530609 + Silent SNP C C T TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 2 80530609 80530609 C T SNP LRRTM1 ENST00000295057 human ensembl 69_37n -1 known silent c.336 p.L112 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 36 0 0.00 32 20 38.46 - - - MAS1 0 genome.wustl.edu 37 6 160328344 160328344 + Silent SNP C C G TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 6 160328344 160328344 C G SNP MAS1 ENST00000252660 human ensembl 69_37n +1 known silent c.357 p.G119 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Mas_TM,prints_7TM_GPCR_Rhodpsn - no_errors MAS1 HGNC ENSG00000130368 38 0 0.00 21 6 22.22 - - - MBD5 0 genome.wustl.edu 37 2 149247498 149247498 + Nonsense_Mutation SNP G G T TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 2 149247498 149247498 G T SNP MBD5 ENST00000407073 human ensembl 69_37n +1 known nonsense c.3598 p.E1200* 1.000 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP - no_errors MBD5 HGNC ENSG00000204406 27 0 0.00 24 4 14.29 - - - METTL4 0 genome.wustl.edu 37 18 2567097 2567097 + Missense_Mutation SNP G G C TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 18 2567097 2567097 G C SNP METTL4 ENST00000574538 human ensembl 69_37n -1 known missense c.119 p.T40S 0.000 NULL pfam_MT-A70-like,pfscan_MT-A70-like - no_errors METTL4 HGNC ENSG00000101574 28 0 0.00 18 11 37.93 - - - MGRN1 0 genome.wustl.edu 37 16 4715104 4715104 + Missense_Mutation SNP G G T TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 16 4715104 4715104 G T SNP MGRN1 ENST00000590790 human ensembl 69_37n +1 novel missense c.523 p.G175C 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MGRN1 HGNC ENSG00000102858 21 0 0.00 17 9 34.62 - - - MKS1 0 genome.wustl.edu 37 17 56285904 56285904 + Missense_Mutation SNP T T G TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 17 56285904 56285904 T G SNP MKS1 ENST00000577824 human ensembl 69_37n -1 putative missense c.542 p.H181P 0.969 pfam_B9_dom pfam_B9_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MKS1 HGNC ENSG00000011143 39 0 0.00 55 9 14.06 - - - MS4A10 0 genome.wustl.edu 37 11 60558546 60558546 + Missense_Mutation SNP C C A TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 11 60558546 60558546 C A SNP MS4A10 ENST00000308287 human ensembl 69_37n +1 known missense c.283 p.P95T 0.942 pfam_CD20-like pfam_CD20-like - no_errors MS4A10 HGNC ENSG00000172689 36 0 0.00 28 7 20.00 - - - PC 0 genome.wustl.edu 37 11 66619395 66619395 + Missense_Mutation SNP C C T TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 11 66619395 66619395 C T SNP PC ENST00000393958 human ensembl 69_37n -1 known missense c.1848 p.M616I 1.000 pfam_PYR_CT,pirsf_Pyruv_COase,pfscan_PYR_CT,tigrfam_Pyruv_COase pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase - no_errors PC HGNC ENSG00000173599 18 0 0.00 12 4 25.00 - - - PKM 0 genome.wustl.edu 37 15 72499505 72499505 + Missense_Mutation SNP C C T TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 15 72499505 72499505 C T SNP PKM ENST00000319622 human ensembl 69_37n -1 known missense c.950 p.C317Y 1.000 pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase,prints_Pyr_Knase,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKM HGNC ENSG00000067225 27 0 0.00 18 6 25.00 - - - PLXNC1 0 genome.wustl.edu 37 12 94673274 94673274 + Silent SNP C C T TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 12 94673274 94673274 C T SNP PLXNC1 ENST00000258526 human ensembl 69_37n +1 known silent c.3624 p.I1208 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNC1 HGNC ENSG00000136040 47 0 0.00 20 11 35.48 - - - PPP1R32 0 genome.wustl.edu 37 11 61249870 61249870 + Missense_Mutation SNP G G C TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 11 61249870 61249870 G C SNP PPP1R32 ENST00000338608 human ensembl 69_37n +1 known missense c.197 p.S66T 0.000 NULL NULL - no_errors PPP1R32 HGNC ENSG00000162148 27 0 0.00 21 6 22.22 - - - PPP1R32 0 genome.wustl.edu 37 11 61253382 61253382 + Missense_Mutation SNP C C A TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 11 61253382 61253382 C A SNP PPP1R32 ENST00000338608 human ensembl 69_37n +1 known missense c.686 p.P229H 0.990 NULL NULL - no_errors PPP1R32 HGNC ENSG00000162148 26 0 0.00 11 5 31.25 - - - PTPRZ1 0 genome.wustl.edu 37 7 121698936 121698936 + Missense_Mutation SNP T T A TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 7 121698936 121698936 T A SNP PTPRZ1 ENST00000393386 human ensembl 69_37n +1 known missense c.6611 p.L2204H 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,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,pfscan_Carbonic_anhydrase_a - no_errors PTPRZ1 HGNC ENSG00000106278 54 0 0.00 57 10 14.93 - - - RANBP3 0 genome.wustl.edu 37 19 5918623 5918623 + Silent SNP G G A TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 19 5918623 5918623 G A SNP RANBP3 ENST00000340578 human ensembl 69_37n -1 known silent c.1357 p.L453 1.000 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3 HGNC ENSG00000031823 34 0 0.00 17 19 52.78 - - - RB1 0 genome.wustl.edu 37 13 49039484 49039484 + Frame_Shift_Del DEL A A - TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 13 49039484 49039484 A - DEL RB1 ENST00000267163 human ensembl 69_37n +1 known frame_shift_del c.2469 p.M825fs 0.998 pfam_Rb_C pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 60 0 0.00 26 27 50.94 - - - RB1CC1 0 genome.wustl.edu 37 8 53570383 53570383 + Missense_Mutation SNP C C A TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 8 53570383 53570383 C A SNP RB1CC1 ENST00000025008 human ensembl 69_37n -1 known missense c.2006 p.R669I 1.000 NULL pfam_Autophagy-rel_p11 - no_errors RB1CC1 HGNC ENSG00000023287 23 0 0.00 12 8 40.00 - - - RNF220 0 genome.wustl.edu 37 1 45110399 45110399 + Missense_Mutation SNP G G C TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 1 45110399 45110399 G C SNP RNF220 ENST00000355387 human ensembl 69_37n +1 known missense c.1156 p.E386Q 1.000 NULL superfamily_Peptidase_M20_dimer,pfscan_Znf_RING - no_errors RNF220 HGNC ENSG00000187147 37 0 0.00 30 6 16.67 - - - SBF2 0 genome.wustl.edu 37 11 10019855 10019855 + Silent SNP G G C TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 11 10019855 10019855 G C SNP SBF2 ENST00000256190 human ensembl 69_37n -1 known silent c.933 p.L311 1.000 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF2 HGNC ENSG00000133812 58 0 0.00 26 13 33.33 - - - SBF2 0 genome.wustl.edu 37 11 10019856 10019856 + Missense_Mutation SNP A A C TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 11 10019856 10019856 A C SNP SBF2 ENST00000256190 human ensembl 69_37n -1 known missense c.932 p.L311R 1.000 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF2 HGNC ENSG00000133812 58 0 0.00 26 13 33.33 - - - SLC22A3 0 genome.wustl.edu 37 6 160858218 160858218 + Silent SNP C C T TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 6 160858218 160858218 C T SNP SLC22A3 ENST00000392145 human ensembl 69_37n +1 known silent c.1263 p.C421 0.996 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A3 HGNC ENSG00000146477 32 0 0.00 18 7 26.92 - - - SLC26A10 0 genome.wustl.edu 37 12 58018918 58018918 + Missense_Mutation SNP C C T TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 12 58018918 58018918 C T SNP SLC26A10 ENST00000320442 human ensembl 69_37n +1 known missense c.1357 p.P453S 0.000 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A10 HGNC ENSG00000135502 81 0 0.00 57 21 26.92 - - - SLC35A5 0 genome.wustl.edu 37 3 112299994 112299994 + Missense_Mutation SNP A A G TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 3 112299994 112299994 A G SNP SLC35A5 ENST00000492406 human ensembl 69_37n +1 known missense c.1030 p.T344A 1.000 pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pfam_DUF250,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A5 HGNC ENSG00000138459 41 0 0.00 25 7 21.88 - - - SLITRK6 0 genome.wustl.edu 37 13 86369992 86369992 + Missense_Mutation SNP T T A TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 13 86369992 86369992 T A SNP SLITRK6 ENST00000400286 human ensembl 69_37n -1 known missense c.652 p.N218Y 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 16 0 0.00 14 6 30.00 - - - TIAL1 0 genome.wustl.edu 37 10 121347702 121347702 + Missense_Mutation SNP G G C TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 10 121347702 121347702 G C SNP TIAL1 ENST00000369093 human ensembl 69_37n -1 known missense c.91 p.Q31E 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors TIAL1 HGNC ENSG00000151923 52 0 0.00 28 13 31.71 - - - TMCC1 0 genome.wustl.edu 37 3 129389639 129389639 + Missense_Mutation SNP C C G TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 3 129389639 129389639 C G SNP TMCC1 ENST00000393238 human ensembl 69_37n -1 known missense c.1045 p.G349R 1.000 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC1 HGNC ENSG00000172765 47 0 0.00 28 13 31.71 - - - TRPM2 0 genome.wustl.edu 37 21 45843548 45843548 + Missense_Mutation SNP T T G TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 21 45843548 45843548 T G SNP TRPM2 ENST00000300482 human ensembl 69_37n +1 known missense c.3482 p.L1161R 0.993 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 20 0 0.00 17 8 32.00 - - - TRPM5 0 genome.wustl.edu 37 11 2439002 2439002 + Missense_Mutation SNP C C T TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 11 2439002 2439002 C T SNP TRPM5 ENST00000452833 human ensembl 69_37n -1 known missense c.970 p.G324S 0.817 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors TRPM5 HGNC ENSG00000070985 25 0 0.00 12 5 29.41 - - - TSPAN32 0 genome.wustl.edu 37 11 2337855 2337855 + Missense_Mutation SNP G G C TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 11 2337855 2337855 G C SNP TSPAN32 ENST00000182290 human ensembl 69_37n +1 known missense c.677 p.G226A 0.003 NULL pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 - no_errors TSPAN32 HGNC ENSG00000064201 37 0 0.00 13 10 43.48 - - - TTC40 0 genome.wustl.edu 37 10 134754565 134754565 + Splice_Site SNP C C A TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 10 134754565 134754565 C A SNP TTC40 ENST00000368582 human ensembl 69_37n -1 known splice_site c.307-1 e4-1 1.000 - - - no_errors TTC40 HGNC ENSG00000171811 56 0 0.00 52 18 25.71 - - - TYMS 0 genome.wustl.edu 37 18 670739 670739 + Missense_Mutation SNP T T C TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 18 670739 670739 T C SNP TYMS ENST00000323274 human ensembl 69_37n +1 known missense c.604 p.Y202H 1.000 pfam_Thymidylate_synthase,superfamily_Thymidate_synth/dCMP_Mease,prints_Thymidylate_synthase,tigrfam_Thymidylate_synthase pfam_Thymidylate_synthase,superfamily_Thymidate_synth/dCMP_Mease,prints_Thymidylate_synthase,tigrfam_Thymidylate_synthase - no_errors TYMS HGNC ENSG00000176890 32 0 0.00 27 12 30.77 - - - UHRF1BP1L 0 genome.wustl.edu 37 12 100496589 100496589 + Missense_Mutation SNP C C G TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 12 100496589 100496589 C G SNP UHRF1BP1L ENST00000279907 human ensembl 69_37n -1 known missense c.293 p.R98T 0.983 NULL NULL - no_errors UHRF1BP1L HGNC ENSG00000111647 89 0 0.00 76 43 35.83 - - - WDR52 0 genome.wustl.edu 37 3 113098230 113098230 + Missense_Mutation SNP C C T TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 3 113098230 113098230 C T SNP WDR52 ENST00000393845 human ensembl 69_37n -1 known missense c.2221 p.E741K 0.002 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR52 HGNC ENSG00000206530 42 0 0.00 30 10 25.00 - - - WDR52 0 genome.wustl.edu 37 3 113122794 113122794 + Nonsense_Mutation SNP G G A TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 3 113122794 113122794 G A SNP WDR52 ENST00000393845 human ensembl 69_37n -1 known nonsense c.1075 p.R359* 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR52 HGNC ENSG00000206530 58 0 0.00 38 29 43.28 - - - XPC 0 genome.wustl.edu 37 3 14219966 14219968 + In_Frame_Del DEL CCT CCT - TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 3 14219966 14219968 CCT - DEL XPC ENST00000285021 human ensembl 69_37n -1 known in_frame_del c.103_101 p.E34in_frame_del 0.927:0.902:0.864 NULL pfam_Rad4/PNGase_transGLS-fold,pfam_Rad4_beta-hairpin_dom3,pfam_Rad4_beta-hairpin_dom2,pfam_Rad4_beta-hairpin_dom1,tigrfam_DNA_repair_Rad4_subgr - no_errors XPC HGNC ENSG00000154767 11 0 0.00 5 2 28.57 - - - ZBTB20 0 genome.wustl.edu 37 3 114069881 114069881 + Silent SNP C C T TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 3 114069881 114069881 C T SNP ZBTB20 ENST00000474710 human ensembl 69_37n -1 known silent c.1044 p.L348 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 28 0 0.00 23 12 34.29 - - - ZBTB8OS 0 genome.wustl.edu 37 1 33099280 33099280 + Missense_Mutation SNP T T C TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 1 33099280 33099280 T C SNP ZBTB8OS ENST00000468695 human ensembl 69_37n -1 known missense c.329 p.Y110C 1.000 pfam_Archease_dom,superfamily_Archease_dom pfam_Archease_dom,superfamily_Archease_dom - no_errors ZBTB8OS HGNC ENSG00000176261 24 0 0.00 27 6 18.18 - - - ZC3H7B 0 genome.wustl.edu 37 22 41752463 41752463 + Missense_Mutation SNP G G A TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 22 41752463 41752463 G A SNP ZC3H7B ENST00000351589 human ensembl 69_37n +1 known missense c.2500 p.D834N 0.999 NULL pfam_Znf_CCCH,pfam_TPR-1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ZC3H7B HGNC ENSG00000100403 25 0 0.00 12 14 53.85 - - - ZMPSTE24 0 genome.wustl.edu 37 1 40734181 40734181 + Missense_Mutation SNP G G C TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 1 40734181 40734181 G C SNP ZMPSTE24 ENST00000372759 human ensembl 69_37n +1 known missense c.448 p.E150Q 1.000 NULL pfam_Peptidase_M48 - no_errors ZMPSTE24 HGNC ENSG00000084073 68 0 0.00 50 14 21.88 - - - ZMYND12 0 genome.wustl.edu 37 1 42905556 42905556 + Missense_Mutation SNP C C T TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 1 42905556 42905556 C T SNP ZMYND12 ENST00000372565 human ensembl 69_37n -1 known missense c.565 p.E189K 0.976 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND12 HGNC ENSG00000066185 65 0 0.00 54 25 31.65 - - - ZNF582 0 genome.wustl.edu 37 19 56896271 56896271 + Missense_Mutation SNP C C G TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a288561-bf14-4cb9-b2f5-9ece0e038319 8e2913c9-4903-4d07-a706-a42e19b2ed7a 19 56896271 56896271 C G SNP ZNF582 ENST00000301310 human ensembl 69_37n -1 known missense c.515 p.G172A 0.000 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 ZNF582 HGNC ENSG00000018869 45 0 0.00 58 11 15.94 - - -