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 ABCA3 0 genome.wustl.edu 37 16 2339579 2339579 + Silent SNP G G T TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 16 2339579 2339579 G T SNP ABCA3 ENST00000301732 human ensembl 69_37n -1 known silent c.2556 p.I852 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 12 0 0.00 8 5 38.46 - - - ABI3BP 0 genome.wustl.edu 37 3 100471647 100471647 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 3 100471647 100471647 C G SNP ABI3BP ENST00000284322 human ensembl 69_37n -1 known missense c.2973 p.L991F 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ABI3BP HGNC ENSG00000154175 48 0 0.00 74 14 15.91 - - - ABR 0 genome.wustl.edu 37 17 953383 953383 + Missense_Mutation SNP C C T TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 17 953383 953383 C T SNP ABR ENST00000572152 human ensembl 69_37n -1 known missense c.71 p.G24E 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB superfamily_C2_Ca/lipid-bd_dom_CaLB - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ABR HGNC ENSG00000159842 53 0 0.00 39 23 37.10 - - - ACADVL 0 genome.wustl.edu 37 17 7125548 7125548 + Missense_Mutation SNP G G C TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 17 7125548 7125548 G C SNP ACADVL ENST00000356839 human ensembl 69_37n +1 known missense c.805 p.D269H 1.000 superfamily_AcylCoA_DH/oxidase pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors ACADVL HGNC ENSG00000072778 15 0 0.00 21 5 19.23 - - - ACLY 0 genome.wustl.edu 37 17 40030139 40030139 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 17 40030139 40030139 C G SNP ACLY ENST00000352035 human ensembl 69_37n -1 known missense c.2567 p.G856A 1.000 superfamily_Citrate_synthase-like_core,pirsf_ATP-citrate_synthase pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase - no_errors ACLY HGNC ENSG00000131473 20 0 0.00 15 6 28.57 - - - ACLY 0 genome.wustl.edu 37 17 40030212 40030212 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 17 40030212 40030212 C G SNP ACLY ENST00000352035 human ensembl 69_37n -1 known missense c.2494 p.G832R 1.000 superfamily_Citrate_synthase-like_core,pirsf_ATP-citrate_synthase pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase - no_errors ACLY HGNC ENSG00000131473 21 0 0.00 11 10 47.62 - - - ACSBG2 0 genome.wustl.edu 37 19 6183146 6183146 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 19 6183146 6183146 C G SNP ACSBG2 ENST00000252669 human ensembl 69_37n +1 known missense c.1185 p.I395M 0.955 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSBG2 HGNC ENSG00000130377 26 0 0.00 22 11 33.33 - - - ADAMTSL4 0 genome.wustl.edu 37 1 150525701 150525701 + Missense_Mutation SNP G G A TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 1 150525701 150525701 G A SNP ADAMTSL4 ENST00000369039 human ensembl 69_37n +1 known missense c.406 p.E136K 0.455 pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ENSG00000143382 10 0 0.00 5 5 50.00 - - - ADCY10 0 genome.wustl.edu 37 1 167865858 167865858 + Silent SNP A A G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 1 167865858 167865858 A G SNP ADCY10 ENST00000367851 human ensembl 69_37n -1 known silent c.714 p.H238 0.720 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 38 0 0.00 62 8 11.43 - - - ADORA2A 0 genome.wustl.edu 37 22 24837096 24837096 + Missense_Mutation SNP G G C TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 22 24837096 24837096 G C SNP ADORA2A ENST00000337539 human ensembl 69_37n +1 known missense c.878 p.R293P 0.999 pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Adeno_A2A_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Adenosn_rcpt - no_errors ADORA2A HGNC ENSG00000128271 14 0 0.00 24 9 27.27 - - - AGAP5 0 genome.wustl.edu 37 10 75435124 75435124 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 10 75435124 75435124 C G SNP AGAP5 ENST00000374094 human ensembl 69_37n -1 known missense c.1294 p.D432H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP5 HGNC ENSG00000172650 20 0 0.00 17 8 32.00 - - - ALAS2 0 genome.wustl.edu 37 X 55046843 55046843 + Missense_Mutation SNP C C T TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 X 55046843 55046843 C T SNP ALAS2 ENST00000330807 human ensembl 69_37n -1 known missense c.733 p.E245K 0.999 pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth - no_errors ALAS2 HGNC ENSG00000158578 23 0 0.00 24 8 25.00 - - - ANKRD29 0 genome.wustl.edu 37 18 21197771 21197771 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 18 21197771 21197771 C G SNP ANKRD29 ENST00000592179 human ensembl 69_37n -1 known missense c.648 p.L216F 0.993 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD29 HGNC ENSG00000154065 62 0 0.00 86 21 19.63 - - - ANKRD30BL 0 genome.wustl.edu 37 2 133015252 133015252 + RNA SNP G G A TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 2 133015252 133015252 G A SNP ANKRD30BL ENST00000470729 human ensembl 69_37n -1 known rna NULL NULL 0.383 - - - no_errors ANKRD30BL HGNC ENSG00000163046 23 0 0.00 12 4 25.00 - - - ANKS1A 0 genome.wustl.edu 37 6 35051198 35051198 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 6 35051198 35051198 C G SNP ANKS1A ENST00000360359 human ensembl 69_37n +1 known missense c.2912 p.S971C 1.000 pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1A HGNC ENSG00000064999 30 0 0.00 70 22 23.91 - - - ANO1 0 genome.wustl.edu 37 11 69950207 69950207 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 11 69950207 69950207 C G SNP ANO1 ENST00000355303 human ensembl 69_37n +1 known missense c.643 p.Q215E 1.000 NULL pfam_Anoctamin - no_errors ANO1 HGNC ENSG00000131620 34 0 0.00 13 9 40.91 - - - ASH1L 0 genome.wustl.edu 37 1 155450828 155450828 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 1 155450828 155450828 C G SNP ASH1L ENST00000368346 human ensembl 69_37n -1 known missense c.1833 p.L611F 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 51 0 0.00 53 12 18.46 - - - ATP6V1A 0 genome.wustl.edu 37 3 113517105 113517105 + Missense_Mutation SNP G G C TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 3 113517105 113517105 G C SNP ATP6V1A ENST00000273398 human ensembl 69_37n +1 known missense c.1306 p.D436H 1.000 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,tigrfam_ATPase_V1-cplx_asu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1/V1/A1-cplx_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1/A1-cplx_a/bsu_N,tigrfam_ATPase_V1-cplx_asu - no_errors ATP6V1A HGNC ENSG00000114573 39 0 0.00 78 11 12.36 - - - BRD8 0 genome.wustl.edu 37 5 137481544 137481544 + Missense_Mutation SNP G G C TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 5 137481544 137481544 G C SNP BRD8 ENST00000254900 human ensembl 69_37n -1 known missense c.3302 p.P1101R 1.000 superfamily_Bromodomain,smart_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 49 0 0.00 12 21 63.64 - - - CARD11 0 genome.wustl.edu 37 7 2978400 2978400 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 7 2978400 2978400 C G SNP CARD11 ENST00000396946 human ensembl 69_37n -1 known missense c.930 p.K310N 1.000 NULL pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 23 0 0.00 20 10 33.33 - - - CERS2 0 genome.wustl.edu 37 1 150940918 150940918 + Missense_Mutation SNP C C T TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 1 150940918 150940918 C T SNP CERS2 ENST00000271688 human ensembl 69_37n -1 known missense c.244 p.A82T 1.000 pirsf_Longevity_assurance_LAG1_LAC1,pfam_Homeodomain,superfamily_Homeodomain-like,pfscan_Homeodomain pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_TLC-dom,pfscan_TLC-dom,pfscan_Homeodomain - no_errors CERS2 HGNC ENSG00000143418 34 0 0.00 43 14 24.14 - - - CHD4 0 genome.wustl.edu 37 12 6710551 6710551 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 12 6710551 6710551 C G SNP CHD4 ENST00000309577 human ensembl 69_37n -1 known missense c.703 p.A235P 1.000 NULL pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 16 0 0.00 5 14 73.68 - - - CHD4 0 genome.wustl.edu 37 12 6711295 6711295 + Missense_Mutation SNP G G T TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 12 6711295 6711295 G T SNP CHD4 ENST00000309577 human ensembl 69_37n -1 known missense c.269 p.P90Q 0.891 NULL pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 25 0 0.00 15 8 34.78 - - - CLDN22 0 genome.wustl.edu 37 4 184240911 184240911 + Missense_Mutation SNP G G T TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 4 184240911 184240911 G T SNP CLDN22 ENST00000323319 human ensembl 69_37n -1 known missense c.461 p.P154Q 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN22 HGNC ENSG00000177300 24 0 0.00 8 13 61.90 - - - CLPX 0 genome.wustl.edu 37 15 65471352 65471352 + Missense_Mutation SNP G G C TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 15 65471352 65471352 G C SNP CLPX ENST00000300107 human ensembl 69_37n -1 known missense c.278 p.S93C 1.000 NULL pfam_ATPase_AAA-2,pfam_Clp_ATPase_C,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_Sigma_54_int,smart_AAA+_ATPase,tigrfam_Clp_protease_ATP-bd_su_ClpX - no_errors CLPX HGNC ENSG00000166855 50 0 0.00 66 16 19.51 - - - CNGA2 0 genome.wustl.edu 37 X 150911600 150911600 + Nonsense_Mutation SNP A A T TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 X 150911600 150911600 A T SNP CNGA2 ENST00000329903 human ensembl 69_37n +1 known nonsense c.625 p.K209* 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA2 HGNC ENSG00000183862 21 0 0.00 30 7 18.92 - - - COL5A1 0 genome.wustl.edu 37 9 137687118 137687118 + Missense_Mutation SNP G G C TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 9 137687118 137687118 G C SNP COL5A1 ENST00000371817 human ensembl 69_37n +1 known missense c.2756 p.G919A 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 35 0 0.00 25 6 19.35 - - - COPG1 0 genome.wustl.edu 37 3 128973842 128973842 + Silent SNP G G A TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 3 128973842 128973842 G A SNP COPG1 ENST00000314797 human ensembl 69_37n +1 known silent c.414 p.Q138 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Coatomer_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu - no_errors COPG1 HGNC ENSG00000181789 26 0 0.00 50 35 41.18 - - - CPED1 0 genome.wustl.edu 37 7 120655806 120655806 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 7 120655806 120655806 C G SNP CPED1 ENST00000310396 human ensembl 69_37n +1 known missense c.337 p.Q113E 0.000 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 33 0 0.00 22 5 18.52 - - - CPED1 0 genome.wustl.edu 37 7 120767288 120767288 + Missense_Mutation SNP C C A TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 7 120767288 120767288 C A SNP CPED1 ENST00000310396 human ensembl 69_37n +1 known missense c.1279 p.L427I 0.602 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 60 0 0.00 75 23 23.47 - - - CRY2 0 genome.wustl.edu 37 11 45891248 45891248 + Missense_Mutation SNP G G C TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 11 45891248 45891248 G C SNP CRY2 ENST00000443527 human ensembl 69_37n +1 known missense c.1137 p.W379C 1.000 pfam_Photolyase_FAD-bd/Cryptochr_C,superfamily_Photolyase_FAD-bd/Cryptochr_C pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N - no_errors CRY2 HGNC ENSG00000121671 23 0 0.00 24 5 17.24 - - - CTPS2 0 genome.wustl.edu 37 X 16720990 16720990 + Silent SNP T T G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 X 16720990 16720990 T G SNP CTPS2 ENST00000359276 human ensembl 69_37n -1 known silent c.36 p.S12 0.075 pfam_CTP_synthase_N,tigrfam_CTP_synthase pfam_CTP_synthase_N,pfam_GATASE_1,pfam_Peptidase_C26,tigrfam_CTP_synthase - no_errors CTPS2 HGNC ENSG00000047230 57 0 0.00 40 16 28.57 - - - DENND4C 0 genome.wustl.edu 37 9 19346465 19346465 + Missense_Mutation SNP G G C TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 9 19346465 19346465 G C SNP DENND4C ENST00000380437 human ensembl 69_37n +1 known missense c.2843 p.S948T 0.976 NULL pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC ENSG00000137145 32 0 0.00 15 6 28.57 - - - DGKD 0 genome.wustl.edu 37 2 234357967 234357967 + Silent SNP G G A TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 2 234357967 234357967 G A SNP DGKD ENST00000264057 human ensembl 69_37n +1 known silent c.1833 p.L611 0.998 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,pfam_Pleckstrin_homology,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKD HGNC ENSG00000077044 22 0 0.00 24 7 22.58 - - - DMBT1 0 genome.wustl.edu 37 10 124389917 124389917 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 10 124389917 124389917 C G SNP DMBT1 ENST00000368915 human ensembl 69_37n +1 known missense c.5936 p.S1979C 0.704 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_Srcr_rcpt,pfam_CUB,pfam_Zona_pellucida_Endoglin/CD105,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_Zona_pellucida_Endoglin/CD105,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_Zona_pellucida_Endoglin/CD105,prints_Srcr_rcpt - no_errors DMBT1 HGNC ENSG00000187908 56 0 0.00 62 12 16.22 - - - DNMT3B 0 genome.wustl.edu 37 20 31374344 31374344 + Missense_Mutation SNP G G A TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 20 31374344 31374344 G A SNP DNMT3B ENST00000328111 human ensembl 69_37n +1 known missense c.343 p.E115K 0.995 NULL pfam_PWWP,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP,pfscan_PWWP - no_errors DNMT3B HGNC ENSG00000088305 17 0 0.00 6 14 70.00 - - - DNTTIP2 0 genome.wustl.edu 37 1 94343060 94343060 + Missense_Mutation SNP T T A TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 1 94343060 94343060 T A SNP DNTTIP2 ENST00000436063 human ensembl 69_37n -1 known missense c.431 p.E144V 1.000 NULL pfam_Fcf2 - no_errors DNTTIP2 HGNC ENSG00000067334 59 0 0.00 93 14 13.08 - - - EFCAB3 0 genome.wustl.edu 37 17 60484535 60484535 + Missense_Mutation SNP G G C TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 17 60484535 60484535 G C SNP EFCAB3 ENST00000450662 human ensembl 69_37n +1 known missense c.985 p.E329Q 1.000 NULL pfscan_EF_HAND_2 - no_errors EFCAB3 HGNC ENSG00000172421 30 0 0.00 50 15 23.08 - - - EFEMP1 0 genome.wustl.edu 37 2 56145044 56145044 + Silent SNP T T G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 2 56145044 56145044 T G SNP EFEMP1 ENST00000355426 human ensembl 69_37n -1 known silent c.273 p.A91 0.000 NULL pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom - no_errors EFEMP1 HGNC ENSG00000115380 55 0 0.00 50 35 41.18 - - - EP300 0 genome.wustl.edu 37 22 41566475 41566475 + Missense_Mutation SNP A A C TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 22 41566475 41566475 A C SNP EP300 ENST00000263253 human ensembl 69_37n +1 known missense c.4352 p.H1451P 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 43 0 0.00 40 34 45.95 - - - FAM186B 0 genome.wustl.edu 37 12 49994357 49994357 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 12 49994357 49994357 C G SNP FAM186B ENST00000257894 human ensembl 69_37n -1 known missense c.1066 p.E356Q 0.154 NULL NULL - no_errors FAM186B HGNC ENSG00000135436 28 0 0.00 30 10 25.00 - - - FAM22F 0 genome.wustl.edu 37 9 97082499 97082499 + Missense_Mutation SNP A A T TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 9 97082499 97082499 A T SNP FAM22F ENST00000253262 human ensembl 69_37n -1 known missense c.1359 p.F453L 0.033 NULL NULL - no_errors FAM22F HGNC ENSG00000130950 32 0 0.00 50 12 19.35 - - - FANCI 0 genome.wustl.edu 37 15 89838218 89838218 + Silent SNP G G C TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 15 89838218 89838218 G C SNP FANCI ENST00000310775 human ensembl 69_37n +1 known silent c.2529 p.V843 0.926 NULL NULL - no_errors FANCI HGNC ENSG00000140525 52 0 0.00 35 16 31.37 - - - FBN2 0 genome.wustl.edu 37 5 127611744 127611744 + Missense_Mutation SNP C C A TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 5 127611744 127611744 C A SNP FBN2 ENST00000262464 human ensembl 69_37n -1 known missense c.7580 p.G2527V 0.996 pirsf_Fibrillin,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pirsf_Fibrillin,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 68 0 0.00 41 13 24.07 - - - FEM1A 0 genome.wustl.edu 37 19 4793084 4793084 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 19 4793084 4793084 C G SNP FEM1A ENST00000269856 human ensembl 69_37n +1 known missense c.1218 p.F406L 0.998 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1A HGNC ENSG00000141965 11 0 0.00 7 10 58.82 - - - FRMD7 0 genome.wustl.edu 37 X 131212589 131212589 + Missense_Mutation SNP G G T TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 X 131212589 131212589 G T SNP FRMD7 ENST00000298542 human ensembl 69_37n -1 known missense c.1456 p.Q486K 1.000 NULL pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD7 HGNC ENSG00000165694 31 0 0.00 46 21 31.34 - - - FRMPD1 0 genome.wustl.edu 37 9 37740228 37740228 + Missense_Mutation SNP T T A TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 9 37740228 37740228 T A SNP FRMPD1 ENST00000377765 human ensembl 69_37n +1 known missense c.1703 p.V568E 0.008 NULL pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD1 HGNC ENSG00000070601 13 0 0.00 6 6 50.00 - - - FRRS1L 0 genome.wustl.edu 37 9 111903756 111903756 + Silent SNP A A G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 9 111903756 111903756 A G SNP FRRS1L ENST00000374581 human ensembl 69_37n -1 known silent c.729 p.D243 0.977 pfam_DOMON_domain,smart_DOMON_domain,pfscan_DOMON_domain pfam_DOMON_domain,smart_DOMON_domain,pfscan_DOMON_domain - no_errors FRRS1L HGNC ENSG00000136805 48 0 0.00 24 16 40.00 - - - FTSJ3 0 genome.wustl.edu 37 17 61898796 61898796 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 17 61898796 61898796 C G SNP FTSJ3 ENST00000427159 human ensembl 69_37n -1 known missense c.1804 p.E602Q 0.001 NULL pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381 - no_errors FTSJ3 HGNC ENSG00000108592 29 0 0.00 19 8 28.57 - - - FUT6 0 genome.wustl.edu 37 19 5832255 5832255 + Missense_Mutation SNP G G C TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 19 5832255 5832255 G C SNP FUT6 ENST00000592563 human ensembl 69_37n -1 known missense c.324 p.H108Q 0.983 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT6 HGNC ENSG00000156413 21 0 0.00 8 20 71.43 - - - GAB3 0 genome.wustl.edu 37 X 153924265 153924265 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 X 153924265 153924265 C G SNP GAB3 ENST00000424127 human ensembl 69_37n -1 known missense c.1457 p.R486T 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB3 HGNC ENSG00000160219 38 0 0.00 54 8 12.90 - - - GBP4 0 genome.wustl.edu 37 1 89658731 89658731 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 1 89658731 89658731 C G SNP GBP4 ENST00000355754 human ensembl 69_37n -1 known missense c.526 p.D176H 0.005 pfam_Guanylate-bd_N pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C - no_errors GBP4 HGNC ENSG00000162654 49 0 0.00 49 13 20.97 - - - GDI1 0 genome.wustl.edu 37 X 153668821 153668821 + Silent SNP C C T TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 X 153668821 153668821 C T SNP GDI1 ENST00000447750 human ensembl 69_37n +1 known silent c.687 p.Y229 0.988 pfam_GDP_dissociation_inhibitor,prints_GDP_dissociation_inhibitor pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor - no_errors GDI1 HGNC ENSG00000203879 50 0 0.00 40 12 23.08 - - - GOLGA6L2 0 genome.wustl.edu 37 15 23685102 23685102 + Silent SNP T T C TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 15 23685102 23685102 T C SNP GOLGA6L2 ENST00000567107 human ensembl 69_37n -1 putative silent c.2520 p.G840 0.000 NULL NULL - no_errors GOLGA6L2 HGNC ENSG00000174450 17 0 0.00 14 9 39.13 - - - GOLGB1 0 genome.wustl.edu 37 3 121409716 121409716 + Missense_Mutation SNP G G A TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 3 121409716 121409716 G A SNP GOLGB1 ENST00000340645 human ensembl 69_37n -1 known missense c.8480 p.S2827F 0.992 superfamily_STAT_TF_coiled-coil superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 47 0 0.00 61 17 21.79 - - - GRK7 0 genome.wustl.edu 37 3 141535617 141535617 + Missense_Mutation SNP G G C TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 3 141535617 141535617 G C SNP GRK7 ENST00000264952 human ensembl 69_37n +1 known missense c.1387 p.E463Q 1.000 superfamily_Kinase-like_dom,smart_AGC-kinase_C pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_GPCR_kinase,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom - no_errors GRK7 HGNC ENSG00000114124 48 0 0.00 60 15 20.00 - - - GTF3C6 0 genome.wustl.edu 37 6 111280417 111280417 + Missense_Mutation SNP G G T TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 6 111280417 111280417 G T SNP GTF3C6 ENST00000329970 human ensembl 69_37n +1 known missense c.100 p.D34Y 1.000 NULL pfam_TFIIIC_tau55-rel - no_errors GTF3C6 HGNC ENSG00000155115 68 0 0.00 50 19 27.54 - - - GZF1 0 genome.wustl.edu 37 20 23350861 23350861 + Missense_Mutation SNP C C T TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 20 23350861 23350861 C T SNP GZF1 ENST00000338121 human ensembl 69_37n +1 known missense c.1919 p.S640F 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors GZF1 HGNC ENSG00000125812 28 0 0.00 29 9 23.68 - - - HSPH1 0 genome.wustl.edu 37 13 31713136 31713136 + Splice_Site DEL C C - TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 13 31713136 31713136 C - DEL HSPH1 ENST00000445273 human ensembl 69_37n -1 known splice_site_del c.2094+1 e15+1 1.000 - - - no_errors HSPH1 HGNC ENSG00000120694 46 0 0.00 41 7 14.58 - - - HUWE1 0 genome.wustl.edu 37 X 53631744 53631744 + Missense_Mutation SNP A A C TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 X 53631744 53631744 A C SNP HUWE1 ENST00000262854 human ensembl 69_37n -1 known missense c.2548 p.S850A 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 39 0 0.00 30 13 30.23 - - - IGF2-AS 0 genome.wustl.edu 37 11 2167538 2167538 + Missense_Mutation SNP C C T TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 11 2167538 2167538 C T SNP IGF2-AS ENST00000381361 human ensembl 69_37n +1 known missense c.368 p.A123V 0.002 NULL NULL - no_errors IGF2-AS HGNC ENSG00000099869 22 0 0.00 17 7 29.17 - - - IGSF10 0 genome.wustl.edu 37 3 151163081 151163081 + Missense_Mutation SNP G G C TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 3 151163081 151163081 G C SNP IGSF10 ENST00000282466 human ensembl 69_37n -1 known missense c.4688 p.S1563C 0.310 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF10 HGNC ENSG00000152580 56 0 0.00 68 11 13.92 - - - IL1RAPL1 0 genome.wustl.edu 37 X 29417323 29417323 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 X 29417323 29417323 C G SNP IL1RAPL1 ENST00000302196 human ensembl 69_37n +1 known missense c.601 p.L201V 0.790 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,prints_IL1_rcpt_1,pfscan_TIR_dom,pfscan_Ig-like - no_errors IL1RAPL1 HGNC ENSG00000169306 45 0 0.00 28 14 33.33 - - - IL1RL2 0 genome.wustl.edu 37 2 102805699 102805699 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 2 102805699 102805699 C G SNP IL1RL2 ENST00000264257 human ensembl 69_37n +1 known missense c.222 p.H74Q 1.000 smart_Ig_sub,pfscan_Ig-like,prints_IL1R_rcpt pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II,prints_IL1R_rcpt - no_errors IL1RL2 HGNC ENSG00000115598 40 0 0.00 44 6 12.00 - - - INHBA 0 genome.wustl.edu 37 7 41729394 41729394 + Missense_Mutation SNP G G A TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 7 41729394 41729394 G A SNP INHBA ENST00000242208 human ensembl 69_37n -1 known missense c.1135 p.R379W 0.995 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu - no_errors INHBA HGNC ENSG00000122641 27 0 0.00 9 26 74.29 - - - KAT6A 0 genome.wustl.edu 37 8 41790605 41790605 + Silent SNP G G A TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 8 41790605 41790605 G A SNP KAT6A ENST00000265713 human ensembl 69_37n -1 known silent c.5133 p.F1711 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 25 0 0.00 47 14 22.95 - - - KBTBD3 0 genome.wustl.edu 37 11 105929688 105929688 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 11 105929688 105929688 C G SNP KBTBD3 ENST00000526793 human ensembl 69_37n -1 known missense c.137 p.R46T 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD3 HGNC ENSG00000182359 56 0 0.00 29 9 23.68 - - - KIAA1432 0 genome.wustl.edu 37 9 5763167 5763167 + Missense_Mutation SNP G G C TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 9 5763167 5763167 G C SNP KIAA1432 ENST00000418622 human ensembl 69_37n +1 known missense c.1903 p.A635P 1.000 NULL pfam_Ribosome_control_1,superfamily_WD40_repeat_dom - no_errors KIAA1432 HGNC ENSG00000107036 62 0 0.00 30 132 81.48 - - - KLHDC7A 0 genome.wustl.edu 37 1 18808277 18808277 + Missense_Mutation SNP G G C TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 1 18808277 18808277 G C SNP KLHDC7A ENST00000400664 human ensembl 69_37n +1 known missense c.802 p.V268L 0.419 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7A HGNC ENSG00000179023 16 0 0.00 13 7 35.00 - - - KRTAP10-4 0 genome.wustl.edu 37 21 45993851 45993851 + Silent SNP C C T TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 21 45993851 45993851 C T SNP KRTAP10-4 ENST00000400374 human ensembl 69_37n +1 known silent c.216 p.C72 0.141 NULL NULL - no_errors KRTAP10-4 HGNC ENSG00000215454 9 0 0.00 7 5 41.67 - - - LOXL4 0 genome.wustl.edu 37 10 100017441 100017441 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 10 100017441 100017441 C G SNP LOXL4 ENST00000260702 human ensembl 69_37n -1 known missense c.1226 p.R409T 1.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Lysyl_oxidase,prints_Srcr_rcpt - no_errors LOXL4 HGNC ENSG00000138131 22 0 0.00 10 20 66.67 - - - MAEA 0 genome.wustl.edu 37 4 1330721 1330721 + Missense_Mutation SNP C C T TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 4 1330721 1330721 C T SNP MAEA ENST00000514708 human ensembl 69_37n +1 known missense c.638 p.A213V 1.000 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors MAEA HGNC ENSG00000090316 33 0 0.00 17 8 30.77 - - - MCM2 0 genome.wustl.edu 37 3 127327260 127327260 + Missense_Mutation SNP G G A TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 3 127327260 127327260 G A SNP MCM2 ENST00000491422 human ensembl 69_37n +1 novel missense c.725 p.R242K 1.000 superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_AAA-3,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,prints_MCM_2,prints_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MCM2 HGNC ENSG00000073111 29 0 0.00 32 12 27.27 - - - MCM3 0 genome.wustl.edu 37 6 52138116 52138116 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 6 52138116 52138116 C G SNP MCM3 ENST00000229854 human ensembl 69_37n -1 known missense c.1588 p.D530H 1.000 pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM_3 - no_errors MCM3 HGNC ENSG00000112118 49 0 0.00 109 20 15.50 - - - MEIS2 0 genome.wustl.edu 37 15 37390202 37390202 + Missense_Mutation SNP C C T TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 15 37390202 37390202 C T SNP MEIS2 ENST00000561208 human ensembl 69_37n -1 known missense c.211 p.D71N 1.000 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors MEIS2 HGNC ENSG00000134138 18 0 0.00 12 9 42.86 - - - MLL 0 genome.wustl.edu 37 11 118344879 118344879 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 11 118344879 118344879 C G SNP MLL ENST00000389506 human ensembl 69_37n +1 known missense c.3005 p.S1002C 1.000 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors MLL HGNC ENSG00000118058 35 0 0.00 13 13 50.00 - - - MORF4L1 0 genome.wustl.edu 37 15 79178563 79178563 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 15 79178563 79178563 C G SNP MORF4L1 ENST00000331268 human ensembl 69_37n +1 known missense c.353 p.A118G 1.000 superfamily_Chromodomain-like,pirsf_Hist_Nua4_cplx_EAF3/MRG15_su pfam_MRG,pfam_Tudor-knot,superfamily_Chromodomain-like,pirsf_Hist_Nua4_cplx_EAF3/MRG15_su - no_errors MORF4L1 HGNC ENSG00000185787 56 0 0.00 32 41 56.16 - - - MUC16 0 genome.wustl.edu 37 19 9085748 9085748 + Missense_Mutation SNP C C T TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 19 9085748 9085748 C T SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.6067 p.G2023R 0.172 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 43 0 0.00 44 16 26.67 - - - MYBPC1 0 genome.wustl.edu 37 12 102056175 102056175 + Missense_Mutation SNP G G C TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 12 102056175 102056175 G C SNP MYBPC1 ENST00000361466 human ensembl 69_37n +1 known missense c.2072 p.W691S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC1 HGNC ENSG00000196091 36 0 0.00 26 6 18.75 - - - MYH13 0 genome.wustl.edu 37 17 10222306 10222306 + Missense_Mutation SNP C C T TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 17 10222306 10222306 C T SNP MYH13 ENST00000252172 human ensembl 69_37n -1 known missense c.3539 p.R1180K 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH13 HGNC ENSG00000006788 47 0 0.00 16 40 71.43 - - - MYO7A 0 genome.wustl.edu 37 11 76903310 76903310 + Missense_Mutation SNP A A G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 11 76903310 76903310 A G SNP MYO7A ENST00000409709 human ensembl 69_37n +1 known missense c.4139 p.Y1380C 1.000 superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 28 0 0.00 40 7 14.89 - - - NCOA1 0 genome.wustl.edu 37 2 24991255 24991255 + Missense_Mutation SNP G G A TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 2 24991255 24991255 G A SNP NCOA1 ENST00000348332 human ensembl 69_37n +1 known missense c.4321 p.E1441K 1.000 NULL pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_DNA-bd - no_errors NCOA1 HGNC ENSG00000084676 24 0 0.00 21 8 27.59 - - - NDRG1 0 genome.wustl.edu 37 8 134266813 134266813 + Missense_Mutation SNP G G A TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 8 134266813 134266813 G A SNP NDRG1 ENST00000323851 human ensembl 69_37n -1 known missense c.563 p.P188L 0.981 pfam_Ndr pfam_Ndr - no_errors NDRG1 HGNC ENSG00000104419 32 0 0.00 75 11 12.79 - - - NEO1 0 genome.wustl.edu 37 15 73428353 73428353 + Missense_Mutation SNP G G C TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 15 73428353 73428353 G C SNP NEO1 ENST00000261908 human ensembl 69_37n +1 known missense c.1000 p.E334Q 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NEO1 HGNC ENSG00000067141 47 0 0.00 27 43 61.43 - - - NHP2L1 0 genome.wustl.edu 37 22 42071108 42071108 + Silent SNP C C A TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 22 42071108 42071108 C A SNP NHP2L1 ENST00000215956 human ensembl 69_37n -1 known silent c.216 p.L72 1.000 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,pfam_RNase_P_Pop3,prints_Ribosomal_L7Ae/L8/Nhp2 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,pfam_RNase_P_Pop3,prints_H/ACA_rnp_Nhp2_euk,prints_Ribosomal_L7Ae/L8/Nhp2,prints_Ribosomal_L7Ae_prok - no_errors NHP2L1 HGNC ENSG00000100138 34 0 0.00 32 11 25.58 - - - NISCH 0 genome.wustl.edu 37 3 52521224 52521224 + Silent SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 3 52521224 52521224 C G SNP NISCH ENST00000345716 human ensembl 69_37n +1 known silent c.1716 p.A572 0.013 NULL pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC ENSG00000010322 22 0 0.00 6 9 60.00 - - - NKTR 0 genome.wustl.edu 37 3 42678814 42678814 + Missense_Mutation SNP A A G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 3 42678814 42678814 A G SNP NKTR ENST00000232978 human ensembl 69_37n +1 known missense c.1618 p.K540E 1.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 42 0 0.00 9 24 72.73 - - - NPEPPS 0 genome.wustl.edu 37 17 45689957 45689957 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 17 45689957 45689957 C G SNP NPEPPS ENST00000322157 human ensembl 69_37n +1 known missense c.2227 p.L743V 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors NPEPPS HGNC ENSG00000141279 36 0 0.00 28 13 31.71 - - - NUP160 0 genome.wustl.edu 37 11 47814408 47814408 + Missense_Mutation SNP G G A TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 11 47814408 47814408 G A SNP NUP160 ENST00000378460 human ensembl 69_37n -1 known missense c.3380 p.A1127V 1.000 NULL pfam_Nucleoporin_Nup160 - no_errors NUP160 HGNC ENSG00000030066 44 0 0.00 45 33 42.31 - - - OR5M11 0 genome.wustl.edu 37 11 56310392 56310392 + Silent SNP C C A TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 11 56310392 56310392 C A SNP OR5M11 ENST00000528616 human ensembl 69_37n -1 known silent c.342 p.L114 0.812 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5M11 HGNC ENSG00000255223 33 0 0.00 23 15 39.47 - - - PAN2 0 genome.wustl.edu 37 12 56721845 56721845 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 12 56721845 56721845 C G SNP PAN2 ENST00000425394 human ensembl 69_37n -1 known missense c.585 p.E195D 0.128 superfamily_WD40_repeat_dom pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19 - no_errors PAN2 HGNC ENSG00000135473 29 0 0.00 20 5 20.00 - - - PCLO 0 genome.wustl.edu 37 7 82579907 82579907 + Nonsense_Mutation SNP C C A TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 7 82579907 82579907 C A SNP PCLO ENST00000333891 human ensembl 69_37n -1 known nonsense c.9997 p.E3333* 0.995 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 50 0 0.00 35 13 27.08 - - - PCLO 0 genome.wustl.edu 37 7 82784791 82784791 + Missense_Mutation SNP T T G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 7 82784791 82784791 T G SNP PCLO ENST00000333891 human ensembl 69_37n -1 known missense c.1166 p.K389T 0.017 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 37 0 0.00 44 12 21.43 - - - PLD1 0 genome.wustl.edu 37 3 171320875 171320875 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 3 171320875 171320875 C G SNP PLD1 ENST00000351298 human ensembl 69_37n -1 known missense c.3218 p.W1073S 1.000 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 33 0 0.00 66 22 25.00 - - - POLR1D 0 genome.wustl.edu 37 13 28239878 28239878 + Missense_Mutation SNP A A C TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 13 28239878 28239878 A C SNP POLR1D ENST00000399697 human ensembl 69_37n +1 novel missense c.157 p.N53H 1.000 NULL NULL - no_errors POLR1D HGNC ENSG00000186184 43 0 0.00 67 16 19.28 - - - POLR1D 0 genome.wustl.edu 37 13 28239900 28239900 + Frame_Shift_Del DEL A A - TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 13 28239900 28239900 A - DEL POLR1D ENST00000399697 human ensembl 69_37n +1 novel frame_shift_del c.179 p.E60fs 1.000 NULL NULL - no_errors POLR1D HGNC ENSG00000186184 47 0 0.00 68 19 21.59 - - - PRG4 0 genome.wustl.edu 37 1 186266033 186266033 + Missense_Mutation SNP A A C TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 1 186266033 186266033 A C SNP PRG4 ENST00000445192 human ensembl 69_37n +1 known missense c.26 p.Y9S 0.049 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 55 0 0.00 94 25 21.01 - - - PRR14L 0 genome.wustl.edu 37 22 32109100 32109100 + Silent SNP T T G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 22 32109100 32109100 T G SNP PRR14L ENST00000397493 human ensembl 69_37n -1 known silent c.4725 p.R1575 0.000 NULL NULL - no_errors PRR14L HGNC ENSG00000183530 35 0 0.00 43 6 12.24 - - - RAD21L1 0 genome.wustl.edu 37 20 1234974 1234974 + Missense_Mutation SNP G G A TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 20 1234974 1234974 G A SNP RAD21L1 ENST00000409241 human ensembl 69_37n +1 known missense c.1544 p.R515Q 0.993 pfam_Rad21/Rec8_C_eu pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu - no_errors RAD21L1 HGNC ENSG00000244588 38 0 0.00 15 33 68.75 - - - RMI1 0 genome.wustl.edu 37 9 86616601 86616601 + Missense_Mutation SNP G G A TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 9 86616601 86616601 G A SNP RMI1 ENST00000325875 human ensembl 69_37n +1 known missense c.700 p.D234N 0.275 NULL pfam_DUF1767 - no_errors RMI1 HGNC ENSG00000178966 36 0 0.00 38 11 22.45 - - - RNF17 0 genome.wustl.edu 37 13 25428135 25428135 + Missense_Mutation SNP A A G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 13 25428135 25428135 A G SNP RNF17 ENST00000255324 human ensembl 69_37n +1 known missense c.3463 p.K1155E 0.075 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 33 0 0.00 29 17 36.96 - - - ROBO1 0 genome.wustl.edu 37 3 78656060 78656060 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 3 78656060 78656060 C G SNP ROBO1 ENST00000464233 human ensembl 69_37n -1 known missense c.4567 p.D1523H 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO1 HGNC ENSG00000169855 74 0 0.00 68 21 23.60 - - - RPL18A 0 genome.wustl.edu 37 19 17972952 17972952 + Missense_Mutation SNP G G A TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 19 17972952 17972952 G A SNP RPL18A ENST00000222247 human ensembl 69_37n +1 known missense c.248 p.R83H 1.000 pfam_Ribosomal_L18a/LX pfam_Ribosomal_L18a/LX - no_errors RPL18A HGNC ENSG00000105640 23 0 0.00 21 21 50.00 - - - RPL3 0 genome.wustl.edu 37 22 39711522 39711522 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 22 39711522 39711522 C G SNP RPL3 ENST00000427905 human ensembl 69_37n -1 putative missense c.634 p.D212H 1.000 pfam_Ribosomal_L3,superfamily_Transl_elong_init/rib_B-barrel pfam_Ribosomal_L3,superfamily_Transl_elong_init/rib_B-barrel - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region RPL3 HGNC ENSG00000100316 26 0 0.00 28 13 31.71 - - - RREB1 0 genome.wustl.edu 37 6 7248826 7248826 + Missense_Mutation SNP G G C TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 6 7248826 7248826 G C SNP RREB1 ENST00000379938 human ensembl 69_37n +1 known missense c.4854 p.Q1618H 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 24 0 0.00 83 16 16.16 - - - RTN1 0 genome.wustl.edu 37 14 60212735 60212737 + In_Frame_Del DEL CTC CTC - TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 14 60212735 60212737 CTC - DEL RTN1 ENST00000267484 human ensembl 69_37n -1 known in_frame_del c.706_704 p.G235in_frame_del 0.000:0.000:0.000 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 62 0 0.00 43 21 32.31 - - - SCMH1 0 genome.wustl.edu 37 1 41499688 41499688 + Missense_Mutation SNP T T C TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 1 41499688 41499688 T C SNP SCMH1 ENST00000326197 human ensembl 69_37n -1 known missense c.1681 p.M561V 0.996 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors SCMH1 HGNC ENSG00000010803 49 0 0.00 109 24 18.05 - - - SERPINB1 0 genome.wustl.edu 37 6 2840702 2840702 + Missense_Mutation SNP G G C TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 6 2840702 2840702 G C SNP SERPINB1 ENST00000380739 human ensembl 69_37n -1 known missense c.119 p.A40G 1.000 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINB1 HGNC ENSG00000021355 26 0 0.00 15 8 34.78 - - - SH3GL3 0 genome.wustl.edu 37 15 84241415 84241415 + Nonsense_Mutation SNP C C T TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 15 84241415 84241415 C T SNP SH3GL3 ENST00000324537 human ensembl 69_37n +1 known nonsense c.454 p.Q152* 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors SH3GL3 HGNC ENSG00000140600 35 0 0.00 37 8 17.78 - - - SLC1A7 0 genome.wustl.edu 37 1 53556433 53556433 + Missense_Mutation SNP G G C TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 1 53556433 53556433 G C SNP SLC1A7 ENST00000371494 human ensembl 69_37n -1 known missense c.1077 p.N359K 1.000 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A7 HGNC ENSG00000162383 19 0 0.00 25 6 19.35 - - - SLC24A5 0 genome.wustl.edu 37 15 48413271 48413271 + Silent SNP G G A TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 15 48413271 48413271 G A SNP SLC24A5 ENST00000341459 human ensembl 69_37n +1 known silent c.30 p.A10 0.018 NULL pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger-like - no_errors SLC24A5 HGNC ENSG00000188467 32 0 0.00 16 6 27.27 - - - SLC25A1 0 genome.wustl.edu 37 22 19164129 19164129 + Missense_Mutation SNP C C T TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 22 19164129 19164129 C T SNP SLC25A1 ENST00000215882 human ensembl 69_37n -1 known missense c.709 p.G237R 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A1 HGNC ENSG00000100075 22 0 0.00 9 15 62.50 - - - SLC25A1 0 genome.wustl.edu 37 22 19164682 19164682 + Silent SNP G G C TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 22 19164682 19164682 G C SNP SLC25A1 ENST00000215882 human ensembl 69_37n -1 known silent c.477 p.P159 0.982 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A1 HGNC ENSG00000100075 24 0 0.00 49 14 22.22 - - - SLC43A3 0 genome.wustl.edu 37 11 57177571 57177571 + Missense_Mutation SNP G G A TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 11 57177571 57177571 G A SNP SLC43A3 ENST00000352187 human ensembl 69_37n -1 known missense c.1084 p.L362F 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A3 HGNC ENSG00000134802 29 0 0.00 15 9 37.50 - - - SLFN14 0 genome.wustl.edu 37 17 33884544 33884544 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 17 33884544 33884544 C G SNP SLFN14 ENST00000415846 human ensembl 69_37n -1 known missense c.538 p.E180Q 1.000 NULL pfam_ATPase_AAA-4 - no_errors SLFN14 HGNC ENSG00000236320 48 0 0.00 43 13 23.21 - - - SMAP1 0 genome.wustl.edu 37 6 71508424 71508424 + Missense_Mutation SNP C C A TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 6 71508424 71508424 C A SNP SMAP1 ENST00000370455 human ensembl 69_37n +1 known missense c.560 p.P187Q 1.000 NULL pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,prints_ArfGAP,pfscan_ArfGAP - no_errors SMAP1 HGNC ENSG00000112305 73 0 0.00 57 16 21.92 - - - SMG5 0 genome.wustl.edu 37 1 156236117 156236117 + Missense_Mutation SNP G G T TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 1 156236117 156236117 G T SNP SMG5 ENST00000361813 human ensembl 69_37n -1 known missense c.1310 p.P437H 0.612 NULL pfam_EST1,smart_PINc_nuc-bd - no_errors SMG5 HGNC ENSG00000198952 24 0 0.00 20 9 31.03 - - - SPG20 0 genome.wustl.edu 37 13 36909960 36909960 + Missense_Mutation SNP T T G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 13 36909960 36909960 T G SNP SPG20 ENST00000355182 human ensembl 69_37n -1 known missense c.8 p.Q3P 1.000 NULL pfam_Senescence/spartin,pfam_MIT,smart_MIT - no_errors SPG20 HGNC ENSG00000133104 43 0 0.00 37 10 21.28 - - - SPOCK1 0 genome.wustl.edu 37 5 136403503 136403503 + Missense_Mutation SNP G G C TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 5 136403503 136403503 G C SNP SPOCK1 ENST00000282223 human ensembl 69_37n -1 known missense c.490 p.H164D 1.000 pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK1 HGNC ENSG00000152377 32 0 0.00 16 13 44.83 - - - SPR 0 genome.wustl.edu 37 2 73115498 73115498 + Silent SNP G G A TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 2 73115498 73115498 G A SNP SPR ENST00000234454 human ensembl 69_37n +1 known silent c.360 p.V120 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,tigrfam_Sepiapterin_red pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,tigrfam_Sepiapterin_red - no_errors SPR HGNC ENSG00000116096 34 0 0.00 39 7 15.22 - - - SPRR1A 0 genome.wustl.edu 37 1 152957724 152957724 + Silent SNP G G A TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 1 152957724 152957724 G A SNP SPRR1A ENST00000307122 human ensembl 69_37n +1 known silent c.18 p.Q6 1.000 NULL pfam_Cornifin - no_errors SPRR1A HGNC ENSG00000169474 40 0 0.00 62 11 15.07 - - - STOML3 0 genome.wustl.edu 37 13 39542611 39542611 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 13 39542611 39542611 C G SNP STOML3 ENST00000379631 human ensembl 69_37n -1 known missense c.577 p.D193H 1.000 pfam_Band_7,smart_Band_7,prints_Stomatin pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors STOML3 HGNC ENSG00000133115 22 0 0.00 18 4 18.18 - - - SUPT6H 0 genome.wustl.edu 37 17 27022374 27022374 + Missense_Mutation SNP G G C TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 17 27022374 27022374 G C SNP SUPT6H ENST00000314616 human ensembl 69_37n +1 known missense c.3779 p.G1260A 1.000 pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pirsf_TF_Spt6,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 35 0 0.00 16 11 40.74 - - - TIMM23 0 genome.wustl.edu 37 10 51592391 51592391 + RNA SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 10 51592391 51592391 C G SNP TIMM23 ENST00000485812 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors TIMM23 HGNC ENSG00000138297 11 0 0.00 10 15 60.00 - - - TP53 0 genome.wustl.edu 37 17 7578271 7578271 + Missense_Mutation SNP T T C TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 17 7578271 7578271 T C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.578 p.H193R 0.998 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 39 0 0.00 16 28 63.64 - - - TRIM23 0 genome.wustl.edu 37 5 64907435 64907435 + Missense_Mutation SNP G G C TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 5 64907435 64907435 G C SNP TRIM23 ENST00000231524 human ensembl 69_37n -1 known missense c.640 p.H214D 1.000 smart_Znf_B-box pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_Znf_C2H2,tigrfam_Small_GTP-bd_dom - no_errors TRIM23 HGNC ENSG00000113595 50 0 0.00 61 17 21.79 - - - TSPAN14 0 genome.wustl.edu 37 10 82264498 82264498 + Silent SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 10 82264498 82264498 C G SNP TSPAN14 ENST00000372156 human ensembl 69_37n +1 known silent c.96 p.V32 1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN14 HGNC ENSG00000108219 50 0 0.00 66 17 20.48 - - - TTC23 0 genome.wustl.edu 37 15 99759224 99759224 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 15 99759224 99759224 C G SNP TTC23 ENST00000262074 human ensembl 69_37n -1 known missense c.334 p.E112Q 1.000 smart_TPR_repeat smart_TPR_repeat - no_errors TTC23 HGNC ENSG00000103852 73 0 0.00 112 28 20.00 - - - TXNDC2 0 genome.wustl.edu 37 18 9887863 9887863 + Missense_Mutation SNP C C A TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 18 9887863 9887863 C A SNP TXNDC2 ENST00000306084 human ensembl 69_37n +1 known missense c.1387 p.L463M 0.094 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold - no_errors TXNDC2 HGNC ENSG00000168454 24 0 0.00 22 13 37.14 - - - UBR5 0 genome.wustl.edu 37 8 103297407 103297407 + Missense_Mutation SNP C C T TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 8 103297407 103297407 C T SNP UBR5 ENST00000520539 human ensembl 69_37n -1 known missense c.5644 p.E1882K 1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 53 0 0.00 110 27 19.71 - - - UCP3 0 genome.wustl.edu 37 11 73718048 73718048 + Missense_Mutation SNP C C T TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 11 73718048 73718048 C T SNP UCP3 ENST00000314032 human ensembl 69_37n -1 known missense c.40 p.A14T 0.005 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling,prints_Mit_carrier - no_errors UCP3 HGNC ENSG00000175564 26 0 0.00 15 15 50.00 - - - WT1 0 genome.wustl.edu 37 11 32410657 32410657 + Missense_Mutation SNP G G A TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 11 32410657 32410657 G A SNP WT1 ENST00000332351 human ensembl 69_37n -1 known missense c.1501 p.R501C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Wilms_tumour_N,pfam_Znf_C2H2,smart_Znf_C2H2-like,prints_Wilms_tumour,pfscan_Znf_C2H2 - no_errors WT1 HGNC ENSG00000184937 61 0 0.00 101 18 15.13 - - - ZMIZ2 0 genome.wustl.edu 37 7 44795851 44795851 + Missense_Mutation SNP G G A TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 7 44795851 44795851 G A SNP ZMIZ2 ENST00000309315 human ensembl 69_37n +1 known missense c.3 p.M1I 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ2 HGNC ENSG00000122515 30 0 0.00 12 28 70.00 - - - ZNF121 0 genome.wustl.edu 37 19 9677204 9677204 + Silent SNP A A G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 19 9677204 9677204 A G SNP ZNF121 ENST00000320451 human ensembl 69_37n -1 known silent c.585 p.T195 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF121 HGNC ENSG00000197961 23 0 0.00 26 10 27.78 - - - ZNF250 0 genome.wustl.edu 37 8 146106959 146106959 + Missense_Mutation SNP G G A TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 8 146106959 146106959 G A SNP ZNF250 ENST00000292579 human ensembl 69_37n -1 known missense c.1624 p.R542C 0.843 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF250 HGNC ENSG00000196150 30 0 0.00 55 33 37.08 - - - ZNF43 0 genome.wustl.edu 37 19 21992075 21992075 + Missense_Mutation SNP T T C TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 19 21992075 21992075 T C SNP ZNF43 ENST00000354959 human ensembl 69_37n -1 known missense c.764 p.Y255C 0.973 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 ZNF43 HGNC ENSG00000198521 48 0 0.00 44 10 18.52 - - - ZNF519 0 genome.wustl.edu 37 18 14105980 14105980 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 18 14105980 14105980 C G SNP ZNF519 ENST00000590202 human ensembl 69_37n -1 known missense c.559 p.E187Q 0.845 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF519 HGNC ENSG00000175322 44 0 0.00 33 10 23.26 - - - ZNF587 0 genome.wustl.edu 37 19 58371075 58371075 + Missense_Mutation SNP G G C TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 19 58371075 58371075 G C SNP ZNF587 ENST00000339656 human ensembl 69_37n +1 known missense c.1295 p.G432A 1.000 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 ZNF587 HGNC ENSG00000198466 49 0 0.00 39 18 31.58 - - - ZNF679 0 genome.wustl.edu 37 7 63726567 63726567 + Missense_Mutation SNP T T C TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11e43e41-54b8-4232-b078-5062288d3868 922226ba-6244-4953-ad42-f4daa474c288 7 63726567 63726567 T C SNP ZNF679 ENST00000255746 human ensembl 69_37n +1 known missense c.556 p.C186R 0.556 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF679 HGNC ENSG00000197123 46 0 0.00 53 54 50.47 - - -