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 AHI1 0 genome.wustl.edu 37 6 135787470 135787470 + Silent SNP A A T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 6 135787470 135787470 A T SNP AHI1 ENST00000265602 human ensembl 69_37n -1 known silent c.231 p.T77 0.069 NULL pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain - no_errors AHI1 HGNC ENSG00000135541 274 0 0.00 420 358 45.90 - - - AMACR 0 genome.wustl.edu 37 5 33989557 33989557 + Missense_Mutation SNP A A G TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 5 33989557 33989557 A G SNP AMACR ENST00000335606 human ensembl 69_37n -1 known missense c.790 p.W264R 1.000 superfamily_CoA-Trfase_III_dom pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom - no_errors AMACR HGNC ENSG00000242110 58 0 0.00 48 6 11.11 - - - ATG16L1 0 genome.wustl.edu 37 2 234172686 234172686 + Missense_Mutation SNP A A T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 2 234172686 234172686 A T SNP ATG16L1 ENST00000392017 human ensembl 69_37n +1 known missense c.364 p.R122W 0.966 pfam_Autophagy-rel_prot_16,superfamily_Prefoldin 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 114 0 0.00 99 23 18.70 - - - ATP2C2 0 genome.wustl.edu 37 16 84449123 84449123 + Missense_Mutation SNP C C G TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 16 84449123 84449123 C G SNP ATP2C2 ENST00000262429 human ensembl 69_37n +1 known missense c.550 p.R184G 0.736 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp_PMR1 pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2C2 HGNC ENSG00000064270 119 0 0.00 54 24 30.77 - - - ATXN7L1 0 genome.wustl.edu 37 7 105283455 105283455 + Missense_Mutation SNP G G A TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 7 105283455 105283455 G A SNP ATXN7L1 ENST00000419735 human ensembl 69_37n -1 known missense c.692 p.S231L 0.935 NULL pfam_SCA7_dom - no_errors ATXN7L1 HGNC ENSG00000146776 404 0 0.00 146 44 23.16 - - - BAI3 0 genome.wustl.edu 37 6 69349109 69349109 + Missense_Mutation SNP C C T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 6 69349109 69349109 C T SNP BAI3 ENST00000370598 human ensembl 69_37n +1 known missense c.542 p.S181L 0.996 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 28 0 0.00 44 8 15.38 - - - BRCA1 0 genome.wustl.edu 37 17 41201181 41201181 + Missense_Mutation SNP C C A TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 17 41201181 41201181 C A SNP BRCA1 ENST00000471181 human ensembl 69_37n -1 known missense c.5426 p.G1809V 1.000 pirsf_BRCA1,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC ENSG00000012048 119 0 0.00 46 17 26.98 - - - C19orf70 0 genome.wustl.edu 37 19 5679407 5679407 + Missense_Mutation SNP G G C TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 19 5679407 5679407 G C SNP C19orf70 ENST00000309324 human ensembl 69_37n -1 known missense c.208 p.L70V 1.000 NULL NULL - no_errors C19orf70 HGNC ENSG00000174917 118 0 0.00 33 12 26.67 - - - C6orf170 0 genome.wustl.edu 37 6 121577341 121577341 + Silent SNP C C G TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 6 121577341 121577341 C G SNP C6orf170 ENST00000275159 human ensembl 69_37n -1 putative silent c.1824 p.V608 0.614 NULL superfamily_Rab-GTPase-TBC_dom - no_errors C6orf170 HGNC ENSG00000146350 103 0 0.00 111 190 62.91 - - - CCDC112 0 genome.wustl.edu 37 5 114603600 114603600 + Missense_Mutation SNP C C G TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 5 114603600 114603600 C G SNP CCDC112 ENST00000379611 human ensembl 69_37n -1 known missense c.1563 p.W521C 1.000 NULL superfamily_Homeodomain-like - no_errors CCDC112 HGNC ENSG00000164221 174 0 0.00 141 86 37.89 - - - CNKSR2 0 genome.wustl.edu 37 X 21627269 21627269 + Missense_Mutation SNP T T G TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a X 21627269 21627269 T G SNP CNKSR2 ENST00000379510 human ensembl 69_37n +1 known missense c.2226 p.H742Q 0.999 NULL pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR2 HGNC ENSG00000149970 97 0 0.00 13 15 53.57 - - - CNKSR3 0 genome.wustl.edu 37 6 154762480 154762480 + Silent SNP G G A TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 6 154762480 154762480 G A SNP CNKSR3 ENST00000367213 human ensembl 69_37n -1 known silent c.453 p.V151 0.000 pfam_CRIC_domain_Chordata pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,pfscan_PDZ,pfscan_SAM - no_errors CNKSR3 HGNC ENSG00000153721 107 0 0.00 67 16 19.28 - - - CPSF1 0 genome.wustl.edu 37 8 145625789 145625789 + Missense_Mutation SNP G G T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 8 145625789 145625789 G T SNP CPSF1 ENST00000349769 human ensembl 69_37n -1 known missense c.785 p.P262H 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 101 0 0.00 19 8 29.63 - - - CSNK1E 0 genome.wustl.edu 37 22 38694802 38694802 + Missense_Mutation SNP T T A TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 22 38694802 38694802 T A SNP CSNK1E ENST00000359867 human ensembl 69_37n -1 known missense c.874 p.M292L 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 CSNK1E HGNC ENSG00000213923 86 0 0.00 32 11 25.58 - - - DAND5 0 genome.wustl.edu 37 19 13084353 13084353 + Missense_Mutation SNP G G C TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 19 13084353 13084353 G C SNP DAND5 ENST00000317060 human ensembl 69_37n +1 known missense c.475 p.V159L 0.014 pfam_DAN,pirsf_Cerberus pfam_DAN,pirsf_Cerberus - no_errors DAND5 HGNC ENSG00000179284 199 1 0.50 62 9 12.68 - - - DIXDC1 0 genome.wustl.edu 37 11 111857608 111857608 + Missense_Mutation SNP G G T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 11 111857608 111857608 G T SNP DIXDC1 ENST00000440460 human ensembl 69_37n +1 known missense c.1019 p.S340I 1.000 NULL pfam_DIX,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_DIX,pfscan_CH-domain,pfscan_DIX - no_errors DIXDC1 HGNC ENSG00000150764 216 0 0.00 233 47 16.79 - - - DNAH3 0 genome.wustl.edu 37 16 20944829 20944829 + Missense_Mutation SNP C C A TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 16 20944829 20944829 C A SNP DNAH3 ENST00000261383 human ensembl 69_37n -1 known missense c.11998 p.V4000L 1.000 pfam_Dynein_heavy pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 154 0 0.00 142 17 10.69 - - - DNAJC9 0 genome.wustl.edu 37 10 75005836 75005836 + Missense_Mutation SNP G G C TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 10 75005836 75005836 G C SNP DNAJC9 ENST00000372950 human ensembl 69_37n -1 known missense c.420 p.D140E 1.000 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,prints_Hsp_DnaJ,pfscan_DnaJ_N - no_errors DNAJC9 HGNC ENSG00000213551 192 1 0.52 61 17 21.79 - - - DOCK6 0 genome.wustl.edu 37 19 11348396 11348396 + Frame_Shift_Del DEL T T - TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 19 11348396 11348396 T - DEL DOCK6 ENST00000294618 human ensembl 69_37n -1 known frame_shift_del c.1892 p.H631fs 1.000 NULL pfam_DOCK,pfam_DUF3398 - no_errors DOCK6 HGNC ENSG00000130158 47 0 0.00 11 2 15.38 - - - DOPEY2 0 genome.wustl.edu 37 21 37612131 37612131 + Nonsense_Mutation SNP G G A TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 21 37612131 37612131 G A SNP DOPEY2 ENST00000399151 human ensembl 69_37n +1 known nonsense c.2945 p.W982* 1.000 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 55 0 0.00 6 4 40.00 - - - ENSG00000184909 0 genome.wustl.edu 37 1 178514978 178514978 + Missense_Mutation SNP C C G TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 1 178514978 178514978 C G SNP ENSG00000184909 ENST00000367636 human ensembl 69_37n +1 known missense c.364 p.L122V 0.000 NULL NULL - no_errors AL513013.1 Clone_based_ensembl_gene ENSG00000184909 151 0 0.00 77 73 48.67 - - - EPB41L3 0 genome.wustl.edu 37 18 5397152 5397152 + Missense_Mutation SNP G G C TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 18 5397152 5397152 G C SNP EPB41L3 ENST00000341928 human ensembl 69_37n -1 known missense c.2746 p.Q916E 0.733 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors EPB41L3 HGNC ENSG00000082397 103 1 0.96 17 27 61.36 - - - ESYT3 0 genome.wustl.edu 37 3 138183231 138183231 + Missense_Mutation SNP G G C TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 3 138183231 138183231 G C SNP ESYT3 ENST00000389567 human ensembl 69_37n +1 known missense c.960 p.Q320H 0.803 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom - no_errors ESYT3 HGNC ENSG00000158220 69 0 0.00 21 6 22.22 - - - F2 0 genome.wustl.edu 37 11 46750993 46750993 + Silent SNP A A T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 11 46750993 46750993 A T SNP F2 ENST00000311907 human ensembl 69_37n +1 known silent c.1536 p.T512 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_prothrombin,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A_prothrombin pfam_Peptidase_S1_S6,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_prothrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A_prothrombin,prints_Peptidase_S1A,prints_GLA_domain - no_errors F2 HGNC ENSG00000180210 73 0 0.00 14 6 30.00 - - - FAM111B 0 genome.wustl.edu 37 11 58893517 58893517 + Silent SNP C C G TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 11 58893517 58893517 C G SNP FAM111B ENST00000343597 human ensembl 69_37n +1 known silent c.1947 p.S649 0.248 superfamily_Pept_cys/ser_Trypsin-like superfamily_Pept_cys/ser_Trypsin-like - no_errors FAM111B HGNC ENSG00000189057 196 0 0.00 118 32 21.33 - - - FANCI 0 genome.wustl.edu 37 15 89849398 89849398 + Missense_Mutation SNP C C T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 15 89849398 89849398 C T SNP FANCI ENST00000561894 human ensembl 69_37n +1 putative missense c.2806 p.H936Y 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FANCI HGNC ENSG00000140525 118 1 0.84 94 15 13.76 - - - FLNC 0 genome.wustl.edu 37 7 128496688 128496688 + Silent SNP C C G TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 7 128496688 128496688 C G SNP FLNC ENST00000325888 human ensembl 69_37n +1 known silent c.7368 p.V2456 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 82 0 0.00 7 16 69.57 - - - GBE1 0 genome.wustl.edu 37 3 81635276 81635276 + Silent SNP T T G TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 3 81635276 81635276 T G SNP GBE1 ENST00000429644 human ensembl 69_37n -1 known silent c.1302 p.R434 0.995 superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom - no_errors GBE1 HGNC ENSG00000114480 155 0 0.00 94 27 22.31 - - - GBP7 0 genome.wustl.edu 37 1 89613451 89613451 + Missense_Mutation SNP C C A TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 1 89613451 89613451 C A SNP GBP7 ENST00000294671 human ensembl 69_37n -1 known missense c.1164 p.E388D 0.020 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors GBP7 HGNC ENSG00000213512 152 0 0.00 69 19 21.35 - - - GGCX 0 genome.wustl.edu 37 2 85777243 85777243 + Silent SNP C C G TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 2 85777243 85777243 C G SNP GGCX ENST00000233838 human ensembl 69_37n -1 known silent c.2091 p.L697 1.000 NULL pfam_VKG_COase,superfamily_RmlC_Cupin,smart_HTTM - no_errors GGCX HGNC ENSG00000115486 45 0 0.00 36 15 29.41 - - - GJA1 0 genome.wustl.edu 37 6 121768943 121768943 + Missense_Mutation SNP A A G TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 6 121768943 121768943 A G SNP GJA1 ENST00000282561 human ensembl 69_37n +1 known missense c.950 p.Q317R 1.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43 - no_errors GJA1 HGNC ENSG00000152661 76 0 0.00 86 13 13.13 - - - GLB1L2 0 genome.wustl.edu 37 11 134238554 134238554 + Missense_Mutation SNP G G T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 11 134238554 134238554 G T SNP GLB1L2 ENST00000525089 human ensembl 69_37n +1 putative missense c.721 p.V241F 0.724 pfam_Glycoside_Hdrlase_35,superfamily_Glycoside_hydrolase_SF pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region GLB1L2 HGNC ENSG00000149328 93 0 0.00 33 5 13.16 - - - HOXB2 0 genome.wustl.edu 37 17 46622059 46622059 + Missense_Mutation SNP G G A TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 17 46622059 46622059 G A SNP HOXB2 ENST00000330070 human ensembl 69_37n -1 known missense c.215 p.A72V 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain - no_errors HOXB2 HGNC ENSG00000173917 50 0 0.00 20 7 25.93 - - - HOXB3 0 genome.wustl.edu 37 17 46629421 46629421 + Missense_Mutation SNP G G A TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 17 46629421 46629421 G A SNP HOXB3 ENST00000311626 human ensembl 69_37n -1 known missense c.416 p.T139M 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXB3 HGNC ENSG00000120093 159 0 0.00 60 28 31.82 - - - HSD3B2 0 genome.wustl.edu 37 1 119964794 119964794 + Missense_Mutation SNP T T C TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 1 119964794 119964794 T C SNP HSD3B2 ENST00000369416 human ensembl 69_37n +1 known missense c.670 p.Y224H 0.998 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_NmrA,pfam_PKS_KR - no_errors HSD3B2 HGNC ENSG00000203859 96 0 0.00 31 14 31.11 - - - IGFL2 0 genome.wustl.edu 37 19 46663943 46663943 + Missense_Mutation SNP A A T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 19 46663943 46663943 A T SNP IGFL2 ENST00000434646 human ensembl 69_37n +1 known missense c.179 p.E60V 0.009 NULL NULL - no_errors IGFL2 HGNC ENSG00000204866 90 0 0.00 26 7 21.21 - - - INMT 0 genome.wustl.edu 37 7 30791789 30791789 + Missense_Mutation SNP G G A TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 7 30791789 30791789 G A SNP INMT ENST00000013222 human ensembl 69_37n +1 known missense c.23 p.G8D 0.000 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors INMT HGNC ENSG00000241644 58 0 0.00 11 7 38.89 - - - ITGA10 0 genome.wustl.edu 37 1 145527965 145527965 + Missense_Mutation SNP G G T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 1 145527965 145527965 G T SNP ITGA10 ENST00000369304 human ensembl 69_37n +1 known missense c.202 p.D68Y 0.913 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA10 HGNC ENSG00000143127 41 0 0.00 6 6 50.00 - - - ITGAL 0 genome.wustl.edu 37 16 30528336 30528336 + Missense_Mutation SNP C C A TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 16 30528336 30528336 C A SNP ITGAL ENST00000356798 human ensembl 69_37n +1 known missense c.2905 p.L969M 0.897 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAL HGNC ENSG00000005844 49 0 0.00 13 5 27.78 - - - ITIH4 0 genome.wustl.edu 37 3 52858309 52858309 + Frame_Shift_Del DEL C C - TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 3 52858309 52858309 C - DEL ITIH4 ENST00000266041 human ensembl 69_37n -1 known frame_shift_del c.1068 p.M356fs 0.994 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH4 HGNC ENSG00000055955 51 0 0.00 13 2 13.33 - - - ITLN2 0 genome.wustl.edu 37 1 160924178 160924178 + Silent SNP T T G TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 1 160924178 160924178 T G SNP ITLN2 ENST00000368029 human ensembl 69_37n -1 known silent c.78 p.A26 0.018 NULL pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C - no_errors ITLN2 HGNC ENSG00000158764 150 0 0.00 118 19 13.87 - - - KATNAL1 0 genome.wustl.edu 37 13 30854326 30854326 + Missense_Mutation SNP A A T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 13 30854326 30854326 A T SNP KATNAL1 ENST00000380615 human ensembl 69_37n -1 known missense c.197 p.V66D 1.000 NULL pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,smart_AAA+_ATPase - no_errors KATNAL1 HGNC ENSG00000102781 86 0 0.00 119 133 52.78 - - - KAZALD1 0 genome.wustl.edu 37 10 102824287 102824287 + Silent SNP G G T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 10 102824287 102824287 G T SNP KAZALD1 ENST00000370200 human ensembl 69_37n +1 known silent c.702 p.V234 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_IGFBP_rP_mac25,pfscan_Ig-like pfam_Ig_I-set,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Immunoglobulin,pfam_IGFBP-like,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pirsf_IGFBP_rP_mac25,pfscan_Ig-like - no_errors KAZALD1 HGNC ENSG00000107821 79 0 0.00 27 4 12.90 - - - KBTBD5 0 genome.wustl.edu 37 3 42733450 42733450 + Missense_Mutation SNP G G T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 3 42733450 42733450 G T SNP KBTBD5 ENST00000287777 human ensembl 69_37n +1 known missense c.1831 p.V611L 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD5 HGNC ENSG00000157119 99 0 0.00 6 16 72.73 - - - KCNH6 0 genome.wustl.edu 37 17 61619620 61619620 + Missense_Mutation SNP G G T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 17 61619620 61619620 G T SNP KCNH6 ENST00000583023 human ensembl 69_37n +1 known missense c.1973 p.G658V 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom - no_errors KCNH6 HGNC ENSG00000173826 76 0 0.00 3 15 83.33 - - - KEL 0 genome.wustl.edu 37 7 142658026 142658026 + Missense_Mutation SNP C C T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 7 142658026 142658026 C T SNP KEL ENST00000355265 human ensembl 69_37n -1 known missense c.389 p.R130Q 0.045 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors KEL HGNC ENSG00000197993 216 0 0.00 185 42 18.50 - - - KIF5C 0 genome.wustl.edu 37 2 149864578 149864578 + Missense_Mutation SNP G G C TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 2 149864578 149864578 G C SNP KIF5C ENST00000435030 human ensembl 69_37n +1 known missense c.2547 p.K849N 0.996 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5C HGNC ENSG00000168280 61 0 0.00 22 13 37.14 - - - KL 0 genome.wustl.edu 37 13 33635059 33635059 + Missense_Mutation SNP A A G TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 13 33635059 33635059 A G SNP KL ENST00000380099 human ensembl 69_37n +1 known missense c.1843 p.I615V 0.075 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KL HGNC ENSG00000133116 125 0 0.00 10 24 70.59 - - - LGI4 0 genome.wustl.edu 37 19 35625006 35625006 + Missense_Mutation SNP G G A TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 19 35625006 35625006 G A SNP LGI4 ENST00000310123 human ensembl 69_37n -1 known missense c.173 p.S58L 0.998 NULL pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI4 HGNC ENSG00000153902 93 0 0.00 34 4 10.53 - - - LGR4 0 genome.wustl.edu 37 11 27406951 27406951 + Missense_Mutation SNP G G A TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 11 27406951 27406951 G A SNP LGR4 ENST00000379214 human ensembl 69_37n -1 known missense c.466 p.R156W 0.995 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_7TM_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_supfam,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors LGR4 HGNC ENSG00000205213 140 0 0.00 70 9 11.39 - - - LOXHD1 0 genome.wustl.edu 37 18 44104856 44104856 + Missense_Mutation SNP C C T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 18 44104856 44104856 C T SNP LOXHD1 ENST00000536736 human ensembl 69_37n -1 known missense c.4555 p.A1519T 0.999 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 - no_errors LOXHD1 HGNC ENSG00000167210 152 0 0.00 33 13 28.26 - - - MAML2 0 genome.wustl.edu 37 11 95825480 95825480 + Missense_Mutation SNP G G A TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 11 95825480 95825480 G A SNP MAML2 ENST00000440572 human ensembl 69_37n -1 known missense c.1715 p.P572L 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 288 0 0.00 150 31 17.13 - - - MARCO 0 genome.wustl.edu 37 2 119727689 119727689 + Splice_Site SNP G G A TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 2 119727689 119727689 G A SNP MARCO ENST00000327097 human ensembl 69_37n +1 known splice_site c.200-1 e3-1 1.000 - - - no_errors MARCO HGNC ENSG00000019169 118 0 0.00 20 15 42.86 - - - MYO1G 0 genome.wustl.edu 37 7 45009012 45009012 + Frame_Shift_Del DEL G G - TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 7 45009012 45009012 G - DEL MYO1G ENST00000258787 human ensembl 69_37n -1 known frame_shift_del c.1574 p.T525fs 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO1G HGNC ENSG00000136286 57 0 0.00 11 2 15.38 - - - MYO3A 0 genome.wustl.edu 37 10 26436364 26436364 + Silent SNP C C T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 10 26436364 26436364 C T SNP MYO3A ENST00000265944 human ensembl 69_37n +1 known silent c.2511 p.L837 0.961 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 159 0 0.00 60 14 18.92 - - - NASP 0 genome.wustl.edu 37 1 46072992 46072992 + Splice_Site SNP G G C TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 1 46072992 46072992 G C SNP NASP ENST00000402363 human ensembl 69_37n +1 known splice_site c.416-1 e6-1 1.000 - - - no_errors NASP HGNC ENSG00000132780 63 0 0.00 76 15 16.48 - - - NRP2 0 genome.wustl.edu 37 2 206631527 206631527 + Missense_Mutation SNP G G T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 2 206631527 206631527 G T SNP NRP2 ENST00000360409 human ensembl 69_37n +1 known missense c.2425 p.G809C 1.000 pirsf_Neuropilin pirsf_Neuropilin,pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB,superfamily_ConA-like_lec_gl,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP2 HGNC ENSG00000118257 180 0 0.00 673 261 27.94 - - - NUF2 0 genome.wustl.edu 37 1 163318796 163318796 + Missense_Mutation SNP C C G TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 1 163318796 163318796 C G SNP NUF2 ENST00000271452 human ensembl 69_37n +1 known missense c.1186 p.Q396E 0.133 NULL pfam_Kinetochore_Nuf2 - no_errors NUF2 HGNC ENSG00000143228 88 0 0.00 248 33 11.74 - - - OR1A1 0 genome.wustl.edu 37 17 3119462 3119462 + Missense_Mutation SNP C C T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 17 3119462 3119462 C T SNP OR1A1 ENST00000304094 human ensembl 69_37n +1 known missense c.548 p.P183L 0.196 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR1A1 HGNC ENSG00000172146 252 0 0.00 26 148 85.06 - - - OR1D5 0 genome.wustl.edu 37 17 2966511 2966511 + Missense_Mutation SNP G G A TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 17 2966511 2966511 G A SNP OR1D5 ENST00000575751 human ensembl 69_37n -1 known missense c.391 p.H131Y 1.000 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,prints_7TM_GPCR_Rhodpsn - no_errors OR1D5 Clone_based_vega_gene ENSG00000262628 189 0 0.00 18 72 80.00 - - - OR2T12 0 genome.wustl.edu 37 1 248458366 248458366 + Missense_Mutation SNP A A T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 1 248458366 248458366 A T SNP OR2T12 ENST00000317996 human ensembl 69_37n -1 known missense c.515 p.I172N 0.006 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2T12 HGNC ENSG00000177201 241 0 0.00 113 37 24.67 - - - OR4K15 0 genome.wustl.edu 37 14 20444111 20444111 + Missense_Mutation SNP A A T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 14 20444111 20444111 A T SNP OR4K15 ENST00000305051 human ensembl 69_37n +1 known missense c.434 p.D145V 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4K15 HGNC ENSG00000169488 194 0 0.00 71 62 46.62 - - - PCDH19 0 genome.wustl.edu 37 X 99551519 99551519 + Missense_Mutation SNP G G T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a X 99551519 99551519 G T SNP PCDH19 ENST00000373034 human ensembl 69_37n -1 known missense c.3203 p.P1068H 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 167 0 0.00 10 29 74.36 - - - PIK3C3 0 genome.wustl.edu 37 18 39542488 39542488 + Missense_Mutation SNP C C T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 18 39542488 39542488 C T SNP PIK3C3 ENST00000262039 human ensembl 69_37n +1 known missense c.292 p.P98S 1.000 pfam_PI3K_C2_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom,pirsf_PI3K_Vps34 pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C3 HGNC ENSG00000078142 127 0 0.00 43 12 21.82 - - - PKD1L2 0 genome.wustl.edu 37 16 81232651 81232651 + Missense_Mutation SNP C C G TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 16 81232651 81232651 C G SNP PKD1L2 ENST00000337114 human ensembl 69_37n -1 known missense c.1159 p.V387L 0.148 NULL pfam_Lectin_gal-bd_dom,pfam_C-type_lectin,pfam_PKD/REJ-like,superfamily_C-type_lectin_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_PKD_dom,smart_C-type_lectin,pfscan_C-type_lectin,pfscan_Lectin_gal-bd_dom,pfscan_REJ-like - no_errors PKD1L2 HGNC ENSG00000166473 150 0 0.00 68 20 22.73 - - - PNMAL1 0 genome.wustl.edu 37 19 46973059 46973059 + Missense_Mutation SNP C C T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 19 46973059 46973059 C T SNP PNMAL1 ENST00000313683 human ensembl 69_37n -1 known missense c.1234 p.E412K 0.007 NULL NULL - no_errors PNMAL1 HGNC ENSG00000182013 90 0 0.00 3 27 90.00 - - - PPP2R2D 0 genome.wustl.edu 37 10 133748053 133748053 + Missense_Mutation SNP A A T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 10 133748053 133748053 A T SNP PPP2R2D ENST00000455566 human ensembl 69_37n +1 known missense c.99 p.E33D 1.000 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2D HGNC ENSG00000175470 162 0 0.00 83 22 20.95 - - - RAB13 0 genome.wustl.edu 37 1 153955065 153955065 + Silent SNP C C T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 1 153955065 153955065 C T SNP RAB13 ENST00000368575 human ensembl 69_37n -1 known silent c.426 p.E142 0.995 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB13 HGNC ENSG00000143545 260 0 0.00 173 30 14.78 - - - RASGRF1 0 genome.wustl.edu 37 15 79291119 79291119 + Missense_Mutation SNP C C A TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 15 79291119 79291119 C A SNP RASGRF1 ENST00000419573 human ensembl 69_37n -1 known missense c.2843 p.R948I 0.999 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 144 0 0.00 26 35 57.38 - - - RBMX 0 genome.wustl.edu 37 X 135960146 135960147 + Frame_Shift_Ins INS - - AA TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a X 135960146 135960147 - AA INS RBMX ENST00000320676 human ensembl 69_37n -1 known frame_shift_ins c.316_315 p.P105fs 1.000:1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMX HGNC ENSG00000147274 153 1 0.65 95 18 15.93 - - - RPP40 0 genome.wustl.edu 37 6 5000125 5000125 + Missense_Mutation SNP C C A TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 6 5000125 5000125 C A SNP RPP40 ENST00000380051 human ensembl 69_37n -1 known missense c.351 p.L117F 1.000 pfam_RNase_P_Rpp40 pfam_RNase_P_Rpp40 - no_errors RPP40 HGNC ENSG00000124787 90 0 0.00 45 125 73.53 - - - SCN3A 0 genome.wustl.edu 37 2 166032862 166032862 + Missense_Mutation SNP G G A TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 2 166032862 166032862 G A SNP SCN3A ENST00000283254 human ensembl 69_37n -1 known missense c.43 p.R15C 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN3A HGNC ENSG00000153253 189 0 0.00 94 98 51.04 - - - SECTM1 0 genome.wustl.edu 37 17 80282641 80282641 + Nonsense_Mutation SNP C C A TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 17 80282641 80282641 C A SNP SECTM1 ENST00000269389 human ensembl 69_37n -1 known nonsense c.220 p.E74* 0.000 NULL NULL - no_errors SECTM1 HGNC ENSG00000141574 134 0 0.00 36 14 28.00 - - - SETD1B 0 genome.wustl.edu 37 12 122255181 122255182 + Frame_Shift_Del DEL TG TG - TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 12 122255181 122255182 TG - DEL SETD1B ENST00000267197 human ensembl 69_37n +1 known frame_shift_del c.2958_2959 p.V987fs 0.821:1.000 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1B HGNC ENSG00000139718 56 0 0.00 3 3 50.00 - - - SLC35A1 0 genome.wustl.edu 37 6 88216123 88216123 + Silent SNP G G T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 6 88216123 88216123 G T SNP SLC35A1 ENST00000369552 human ensembl 69_37n +1 known silent c.531 p.G177 0.759 pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A1 HGNC ENSG00000164414 266 1 0.37 443 89 16.73 - - - SMG8 0 genome.wustl.edu 37 17 57288018 57288018 + Nonsense_Mutation SNP C C A TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 17 57288018 57288018 C A SNP SMG8 ENST00000300917 human ensembl 69_37n +1 known nonsense c.606 p.Y202* 1.000 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC ENSG00000167447 166 0 0.00 105 21 16.67 - - - SPEN 0 genome.wustl.edu 37 1 16199441 16199442 + Frame_Shift_Del DEL AG AG - TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 1 16199441 16199442 AG - DEL SPEN ENST00000375759 human ensembl 69_37n +1 known frame_shift_del c.214_215 p.D73fs 1.000:1.000 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 100 0 0.00 41 37 47.44 - - - SPTB 0 genome.wustl.edu 37 14 65271779 65271779 + Missense_Mutation SNP A A T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 14 65271779 65271779 A T SNP SPTB ENST00000389722 human ensembl 69_37n -1 known missense c.178 p.F60I 1.000 pirsf_Spectrin_bsu,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 159 0 0.00 76 24 24.00 - - - SRRM2 0 genome.wustl.edu 37 16 2818050 2818050 + Missense_Mutation SNP G G A TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 16 2818050 2818050 G A SNP SRRM2 ENST00000572883 human ensembl 69_37n +1 known missense c.328 p.G110R 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SRRM2 HGNC ENSG00000167978 145 0 0.00 13 33 71.74 - - - STAG1 0 genome.wustl.edu 37 3 136078104 136078104 + Missense_Mutation SNP T T A TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 3 136078104 136078104 T A SNP STAG1 ENST00000383202 human ensembl 69_37n -1 known missense c.2822 p.N941I 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 108 0 0.00 63 7 10.00 - - - SYCP2 0 genome.wustl.edu 37 20 58467482 58467482 + Splice_Site SNP C C A TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 20 58467482 58467482 C A SNP SYCP2 ENST00000357552 human ensembl 69_37n -1 known splice_site c.1928-1 e22-1 0.919 - - - no_errors SYCP2 HGNC ENSG00000196074 78 0 0.00 253 52 17.05 - - - TEP1 0 genome.wustl.edu 37 14 20873681 20873681 + Missense_Mutation SNP C C T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 14 20873681 20873681 C T SNP TEP1 ENST00000262715 human ensembl 69_37n -1 known missense c.799 p.D267N 0.000 pfam_TROVE,pfscan_TROVE pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 269 0 0.00 142 32 18.39 - - - TEPP 0 genome.wustl.edu 37 16 58021301 58021301 + Missense_Mutation SNP C C T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 16 58021301 58021301 C T SNP TEPP ENST00000290871 human ensembl 69_37n +1 known missense c.868 p.R290C 0.403 NULL NULL - no_errors TEPP HGNC ENSG00000159648 260 0 0.00 98 69 41.32 - - - TMEFF2 0 genome.wustl.edu 37 2 192820999 192820999 + Missense_Mutation SNP A A G TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 2 192820999 192820999 A G SNP TMEFF2 ENST00000272771 human ensembl 69_37n -1 known missense c.851 p.M284T 1.000 pfscan_EG-like_dom pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,pfscan_EG-like_dom - no_errors TMEFF2 HGNC ENSG00000144339 183 0 0.00 185 22 10.63 - - - TMEM178A 0 genome.wustl.edu 37 2 39934291 39934291 + Missense_Mutation SNP C C A TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 2 39934291 39934291 C A SNP TMEM178A ENST00000281961 human ensembl 69_37n +1 known missense c.617 p.T206N 1.000 NULL NULL - no_errors TMEM178A HGNC ENSG00000152154 96 0 0.00 43 12 21.82 - - - TNIK 0 genome.wustl.edu 37 3 170819300 170819300 + Silent SNP C C T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 3 170819300 170819300 C T SNP TNIK ENST00000436636 human ensembl 69_37n -1 known silent c.2529 p.E843 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors TNIK HGNC ENSG00000154310 275 0 0.00 192 114 37.25 - - - TNRC6B 0 genome.wustl.edu 37 22 40662003 40662003 + Missense_Mutation SNP G G A TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 22 40662003 40662003 G A SNP TNRC6B ENST00000454349 human ensembl 69_37n +1 known missense c.1769 p.R590H 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC ENSG00000100354 84 0 0.00 21 13 38.24 - - - TP53 0 genome.wustl.edu 37 17 7577110 7577110 + Silent SNP G G C TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 17 7577110 7577110 G C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known silent c.828 p.A276 0.993 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 229 0 0.00 17 4 19.05 - - - TRIP12 0 genome.wustl.edu 37 2 230678609 230678609 + Silent SNP G G A TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 2 230678609 230678609 G A SNP TRIP12 ENST00000283943 human ensembl 69_37n -1 known silent c.1819 p.L607 1.000 superfamily_ARM-type_fold pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 63 0 0.00 36 25 40.98 - - - TRMT13 0 genome.wustl.edu 37 1 100613873 100613873 + Frame_Shift_Del DEL G G - TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 1 100613873 100613873 G - DEL TRMT13 ENST00000370141 human ensembl 69_37n +1 known frame_shift_del c.1241 p.C414fs 0.012 pfam_Methyltransferase_TRM13 pfam_Methyltransferase_TRM13,pfam_Znf_CCCH-type_TRM13,pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors TRMT13 HGNC ENSG00000122435 46 0 0.00 25 16 39.02 - - - TSC22D1 0 genome.wustl.edu 37 13 45148403 45148403 + Missense_Mutation SNP G G A TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 13 45148403 45148403 G A SNP TSC22D1 ENST00000458659 human ensembl 69_37n -1 known missense c.1808 p.P603L 1.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D1 HGNC ENSG00000102804 173 0 0.00 37 11 22.92 - - - TYR 0 genome.wustl.edu 37 11 88911483 88911483 + Missense_Mutation SNP G G T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 11 88911483 88911483 G T SNP TYR ENST00000263321 human ensembl 69_37n +1 known missense c.362 p.R121I 1.000 superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYR HGNC ENSG00000077498 76 0 0.00 57 7 10.94 - - - URI1 0 genome.wustl.edu 37 19 30505914 30505914 + Missense_Mutation SNP T T A TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 19 30505914 30505914 T A SNP URI1 ENST00000542441 human ensembl 69_37n +1 known missense c.1546 p.S516T 0.309 NULL pfam_Prefoldin_subunit,superfamily_Prefoldin - no_errors URI1 HGNC ENSG00000105176 128 0 0.00 155 65 29.41 - - - VWF 0 genome.wustl.edu 37 12 6078528 6078528 + Missense_Mutation SNP G G T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 12 6078528 6078528 G T SNP VWF ENST00000261405 human ensembl 69_37n -1 known missense c.7578 p.N2526K 0.993 pirsf_VWF pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 53 0 0.00 12 16 57.14 - - - XIRP2 0 genome.wustl.edu 37 2 168107363 168107363 + Missense_Mutation SNP C C A TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 2 168107363 168107363 C A SNP XIRP2 ENST00000295237 human ensembl 69_37n +1 known missense c.9461 p.P3154Q 0.375 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 42 0 0.00 40 18 31.03 - - - ZMIZ1 0 genome.wustl.edu 37 10 81058277 81058277 + Missense_Mutation SNP G G A TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 10 81058277 81058277 G A SNP ZMIZ1 ENST00000334512 human ensembl 69_37n +1 known missense c.1606 p.V536I 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ1 HGNC ENSG00000108175 145 0 0.00 18 22 55.00 - - - ZNF292 0 genome.wustl.edu 37 6 87953320 87953320 + Missense_Mutation SNP A A G TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 6 87953320 87953320 A G SNP ZNF292 ENST00000369577 human ensembl 69_37n +1 known missense c.869 p.Y290C 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 131 1 0.76 299 50 14.29 - - - ZNF543 0 genome.wustl.edu 37 19 57839308 57839308 + Missense_Mutation SNP G G C TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 19 57839308 57839308 G C SNP ZNF543 ENST00000321545 human ensembl 69_37n +1 known missense c.478 p.D160H 0.001 NULL 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 ZNF543 HGNC ENSG00000178229 89 0 0.00 38 37 49.33 - - - ZNF876P 0 genome.wustl.edu 37 4 248578 248578 + RNA SNP G G C TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 537c5818-eb89-4b46-8915-2bb2b9e4545f 0c389ec9-719e-4bcb-96f2-9889efd47a4a 4 248578 248578 G C SNP ZNF876P ENST00000356347 human ensembl 69_37n +1 known rna NULL NULL 0.315 - - - no_errors ZNF876P HGNC ENSG00000198155 28 0 0.00 8 5 38.46 - - -