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 ABCA13 0 genome.wustl.edu 37 7 48314170 48314170 + Missense_Mutation SNP G G C TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 7 48314170 48314170 G C SNP ABCA13 ENST00000435803 human ensembl 69_37n +1 known missense c.4907 p.R1636T 0.341 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 55 0 0.00 27 36 57.14 - - - ACACB 0 genome.wustl.edu 37 12 109654462 109654462 + Silent SNP G G T TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 12 109654462 109654462 G T SNP ACACB ENST00000338432 human ensembl 69_37n +1 known silent c.3390 p.V1130 0.985 pfam_AcCoA_COase_cen pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 66 0 0.00 24 4 14.29 - - - ACAD11 0 genome.wustl.edu 37 3 132277850 132277850 + Missense_Mutation SNP G G A TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 3 132277850 132277850 G A SNP ACAD11 ENST00000264990 human ensembl 69_37n -1 known missense c.2308 p.R770W 0.037 superfamily_AcylCo_DH/oxidase_C pfam_Aminoglycoside_PTrfase,pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom - no_errors ACAD11 HGNC ENSG00000240303 39 0 0.00 11 6 35.29 - - - ANK2 0 genome.wustl.edu 37 4 114203939 114203939 + Missense_Mutation SNP A A C TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 4 114203939 114203939 A C SNP ANK2 ENST00000357077 human ensembl 69_37n +1 known missense c.1990 p.T664P 0.363 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 38 0 0.00 28 17 37.78 - - - ARRDC3 0 genome.wustl.edu 37 5 90670780 90670780 + Missense_Mutation SNP T T C TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 5 90670780 90670780 T C SNP ARRDC3 ENST00000265138 human ensembl 69_37n -1 known missense c.829 p.I277V 1.000 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC3 HGNC ENSG00000113369 38 0 0.00 29 14 32.56 - - - BTF3L4 0 genome.wustl.edu 37 1 52530570 52530571 + Frame_Shift_Ins INS - - A TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 1 52530570 52530571 - A INS BTF3L4 ENST00000313334 human ensembl 69_37n +1 known frame_shift_ins c.128_129 p.L46fs 0.999:0.252 pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx - no_errors BTF3L4 HGNC ENSG00000134717 75 0 0.00 35 9 20.45 - - - C7orf26 0 genome.wustl.edu 37 7 6634119 6634119 + Nonsense_Mutation SNP C C A TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 7 6634119 6634119 C A SNP C7orf26 ENST00000344417 human ensembl 69_37n +1 known nonsense c.468 p.Y156* 1.000 NULL NULL - no_errors C7orf26 HGNC ENSG00000146576 69 0 0.00 51 21 29.17 - - - CARM1 0 genome.wustl.edu 37 19 11027383 11027383 + Missense_Mutation SNP C C T TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 19 11027383 11027383 C T SNP CARM1 ENST00000327064 human ensembl 69_37n +1 known missense c.950 p.S317F 1.000 pfam_Arg_MeTrfase pfam_Histone-Arg_MeTrfase_N,pfam_Arg_MeTrfase,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_mo5U34_MeTrfase,pfam_Methyltransf_11 - no_errors CARM1 HGNC ENSG00000142453 30 0 0.00 31 13 29.55 - - - CCDC73 0 genome.wustl.edu 37 11 32675581 32675581 + Missense_Mutation SNP T T G TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 11 32675581 32675581 T G SNP CCDC73 ENST00000335185 human ensembl 69_37n -1 known missense c.777 p.E259D 0.987 NULL NULL - no_errors CCDC73 HGNC ENSG00000186714 68 0 0.00 32 12 27.27 - - - CKMT2 0 genome.wustl.edu 37 5 80553653 80553653 + Missense_Mutation SNP G G A TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 5 80553653 80553653 G A SNP CKMT2 ENST00000254035 human ensembl 69_37n +1 known missense c.857 p.R286Q 1.000 pfam_ATP-guanido_PTrfase_cat pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N - no_errors CKMT2 HGNC ENSG00000131730 48 0 0.00 32 10 23.81 - - - DHX30 0 genome.wustl.edu 37 3 47882665 47882665 + Nonsense_Mutation SNP C C G TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 3 47882665 47882665 C G SNP DHX30 ENST00000445061 human ensembl 69_37n +1 known nonsense c.665 p.S222* 0.972 NULL pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX30 HGNC ENSG00000132153 39 0 0.00 23 6 20.69 - - - FSTL5 0 genome.wustl.edu 37 4 162680584 162680584 + Missense_Mutation SNP C C T TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 4 162680584 162680584 C T SNP FSTL5 ENST00000306100 human ensembl 69_37n -1 known missense c.706 p.E236K 1.000 NULL pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like - no_errors FSTL5 HGNC ENSG00000168843 52 0 0.00 28 5 15.15 - - - GANAB 0 genome.wustl.edu 37 11 62394094 62394094 + Silent SNP T T G TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 11 62394094 62394094 T G SNP GANAB ENST00000346178 human ensembl 69_37n -1 known silent c.2526 p.S842 0.969 NULL pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd - no_errors GANAB HGNC ENSG00000089597 28 0 0.00 10 23 69.70 - - - GPAT2 0 genome.wustl.edu 37 2 96688929 96688929 + Missense_Mutation SNP G G A TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 2 96688929 96688929 G A SNP GPAT2 ENST00000359548 human ensembl 69_37n -1 known missense c.2074 p.R692C 1.000 NULL smart_Acyltransferase - no_errors GPAT2 HGNC ENSG00000186281 24 0 0.00 15 4 21.05 - - - H2AFY2 0 genome.wustl.edu 37 10 71835425 71835425 + Missense_Mutation SNP G G A TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 10 71835425 71835425 G A SNP H2AFY2 ENST00000373255 human ensembl 69_37n +1 known missense c.11 p.R4Q 1.000 smart_Histone_H2A,pirsf_Core_histone_macro-H2A pfam_A1pp,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_A1pp,pirsf_Core_histone_macro-H2A,pfscan_A1pp,prints_Histone_H2A - no_errors H2AFY2 HGNC ENSG00000099284 63 0 0.00 30 11 26.19 - - - KIAA1551 0 genome.wustl.edu 37 12 32137328 32137328 + Missense_Mutation SNP T T C TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 12 32137328 32137328 T C SNP KIAA1551 ENST00000312561 human ensembl 69_37n +1 known missense c.3439 p.C1147R 0.000 NULL NULL - no_errors KIAA1551 HGNC ENSG00000174718 64 0 0.00 34 28 45.16 - - - LAMB2 0 genome.wustl.edu 37 3 49163267 49163267 + Nonsense_Mutation SNP G G A TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 3 49163267 49163267 G A SNP LAMB2 ENST00000305544 human ensembl 69_37n -1 known nonsense c.2401 p.Q801* 1.000 pfam_EGF_laminin,smart_EGF-like,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 41 0 0.00 19 10 34.48 - - - LAMB4 0 genome.wustl.edu 37 7 107684275 107684275 + Missense_Mutation SNP C C G TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 7 107684275 107684275 C G SNP LAMB4 ENST00000205386 human ensembl 69_37n -1 known missense c.4393 p.G1465R 0.000 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 104 1 0.94 69 18 20.69 - - - MAB21L3 0 genome.wustl.edu 37 1 116663694 116663694 + Splice_Site SNP G G T TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 1 116663694 116663694 G T SNP MAB21L3 ENST00000369500 human ensembl 69_37n +1 known splice_site c.189+1 e2+1 1.000 - - - no_errors MAB21L3 HGNC ENSG00000173212 47 0 0.00 22 4 15.38 - - - MAT2A 0 genome.wustl.edu 37 2 85769862 85769862 + Missense_Mutation SNP C C G TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 2 85769862 85769862 C G SNP MAT2A ENST00000306434 human ensembl 69_37n +1 known missense c.943 p.L315V 1.000 pfam_S-AdoMet_synt_C,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase pfam_S-AdoMet_synt_C,pfam_S-AdoMet_synt_central,pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase - no_errors MAT2A HGNC ENSG00000168906 70 0 0.00 38 66 63.46 - - - MFSD8 0 genome.wustl.edu 37 4 128886286 128886286 + Missense_Mutation SNP C C T TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 4 128886286 128886286 C T SNP MFSD8 ENST00000296468 human ensembl 69_37n -1 known missense c.3 p.M1I 0.738 NULL pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD8 HGNC ENSG00000164073 20 0 0.00 5 6 54.55 - - - MID1 0 genome.wustl.edu 37 X 10491176 10491176 + Missense_Mutation SNP C C G TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 X 10491176 10491176 C G SNP MID1 ENST00000317552 human ensembl 69_37n -1 known missense c.712 p.E238Q 1.000 smart_Bbox_C pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors MID1 HGNC ENSG00000101871 88 0 0.00 40 18 31.03 - - - MINPP1 0 genome.wustl.edu 37 10 89268241 89268241 + Missense_Mutation SNP A A T TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 10 89268241 89268241 A T SNP MINPP1 ENST00000371996 human ensembl 69_37n +1 known missense c.786 p.L262F 0.876 pfam_His_Pase_superF_clade-2,pirsf_Histidine_acid_Pase_euk pfam_His_Pase_superF_clade-2,pirsf_Histidine_acid_Pase_euk - no_errors MINPP1 HGNC ENSG00000107789 29 0 0.00 29 9 23.68 - - - ODZ2 0 genome.wustl.edu 37 5 167645851 167645851 + Missense_Mutation SNP C C A TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 5 167645851 167645851 C A SNP ODZ2 ENST00000518659 human ensembl 69_37n +1 known missense c.4955 p.P1652H 1.000 superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl,superfamily_Cytokine_IL1-like,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors ODZ2 HGNC ENSG00000145934 22 0 0.00 11 5 31.25 - - - OSGEPL1 0 genome.wustl.edu 37 2 190620045 190620045 + Missense_Mutation SNP T T C TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 2 190620045 190620045 T C SNP OSGEPL1 ENST00000264151 human ensembl 69_37n -1 known missense c.463 p.I155V 0.998 pfam_Peptidase_M22,tigrfam_Peptidase_M22_subgr pfam_Peptidase_M22,prints_Peptidase_M22_subgr,tigrfam_Peptidase_M22_subgr - no_errors OSGEPL1 HGNC ENSG00000128694 47 0 0.00 37 13 26.00 - - - PCDHA2 0 genome.wustl.edu 37 5 140174750 140174750 + Silent SNP G G A TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 5 140174750 140174750 G A SNP PCDHA2 ENST00000526136 human ensembl 69_37n +1 known silent c.201 p.A67 0.493 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 30 0 0.00 24 10 29.41 - - - PCDHGA1 0 genome.wustl.edu 37 5 140711823 140711823 + Silent SNP G G A TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 5 140711823 140711823 G A SNP PCDHGA1 ENST00000517417 human ensembl 69_37n +1 known silent c.1572 p.Q524 0.914 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC ENSG00000204956 41 0 0.00 27 8 22.86 - - - PCID2 0 genome.wustl.edu 37 13 113838712 113838712 + Silent SNP T T C TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 13 113838712 113838712 T C SNP PCID2 ENST00000246505 human ensembl 69_37n -1 known silent c.795 p.T265 0.012 smart_PAM pfam_PCI_dom,smart_PAM - no_errors PCID2 HGNC ENSG00000126226 97 0 0.00 11 37 77.08 - - - PRKCSH 0 genome.wustl.edu 37 19 11558370 11558370 + Silent SNP G G A TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 19 11558370 11558370 G A SNP PRKCSH ENST00000252455 human ensembl 69_37n +1 known silent c.966 p.E322 0.000 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_LDrepeatLR_classA_rpt,pfscan_EF_HAND_2 - no_errors PRKCSH HGNC ENSG00000130175 15 0 0.00 24 8 25.00 - - - PTCHD2 0 genome.wustl.edu 37 1 11594443 11594443 + Missense_Mutation SNP G G A TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 1 11594443 11594443 G A SNP PTCHD2 ENST00000304391 human ensembl 69_37n +1 putative missense c.40 p.V14I 0.997 NULL NULL - no_errors PTCHD2 HGNC ENSG00000204624 40 0 0.00 14 5 26.32 - - - RNF168 0 genome.wustl.edu 37 3 196199594 196199594 + Missense_Mutation SNP A A G TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 3 196199594 196199594 A G SNP RNF168 ENST00000318037 human ensembl 69_37n -1 known missense c.812 p.I271T 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF168 HGNC ENSG00000163961 35 0 0.00 17 5 22.73 - - - SUPT16H 0 genome.wustl.edu 37 14 21834653 21834653 + Missense_Mutation SNP C C A TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 14 21834653 21834653 C A SNP SUPT16H ENST00000216297 human ensembl 69_37n -1 known missense c.991 p.D331Y 1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain - no_errors SUPT16H HGNC ENSG00000092201 66 0 0.00 44 11 20.00 - - - SUV420H1 0 genome.wustl.edu 37 11 67925891 67925891 + Missense_Mutation SNP G G A TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 11 67925891 67925891 G A SNP SUV420H1 ENST00000304363 human ensembl 69_37n -1 known missense c.1922 p.A641V 0.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H1 HGNC ENSG00000110066 65 0 0.00 39 17 30.36 - - - TCP10 0 genome.wustl.edu 37 6 167790110 167790110 + Missense_Mutation SNP C C T TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 6 167790110 167790110 C T SNP TCP10 ENST00000397829 human ensembl 69_37n -1 known missense c.500 p.R167H 0.001 NULL NULL - no_errors TCP10 HGNC ENSG00000203690 28 0 0.00 13 4 23.53 - - - TRBV5-1 0 genome.wustl.edu 37 7 142021186 142021186 + Missense_Mutation SNP C C G TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 7 142021186 142021186 C G SNP TRBV5-1 ENST00000390381 human ensembl 69_37n +1 known missense c.166 p.Q56E 0.414 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon:bad_bp_length_for_coding_region TRBV5-1 HGNC ENSG00000211734 57 0 0.00 33 14 29.79 - - - TSEN2 0 genome.wustl.edu 37 3 12531481 12531481 + Missense_Mutation SNP A A G TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 3 12531481 12531481 A G SNP TSEN2 ENST00000284995 human ensembl 69_37n +1 known missense c.182 p.Y61C 0.975 pirsf_tRNA_splic_SEN2 pfam_tRNA_intron_Endonuc_cat-like,pfam_tRNA_intron_Endonuc_N,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN2 - no_errors TSEN2 HGNC ENSG00000154743 31 0 0.00 22 8 26.67 - - - VPS13D 0 genome.wustl.edu 37 1 12378344 12378344 + Missense_Mutation SNP C C T TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 1 12378344 12378344 C T SNP VPS13D ENST00000358136 human ensembl 69_37n +1 known missense c.7364 p.S2455F 1.000 NULL pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 46 0 0.00 30 17 36.17 - - - ZNF330 0 genome.wustl.edu 37 4 142150852 142150852 + Splice_Site SNP G G T TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 4 142150852 142150852 G T SNP ZNF330 ENST00000262990 human ensembl 69_37n +1 known splice_site c.418+1 e5+1 1.000 - - - no_errors ZNF330 HGNC ENSG00000109445 61 0 0.00 35 10 22.22 - - - ZNF671 0 genome.wustl.edu 37 19 58232276 58232276 + Missense_Mutation SNP C C G TCGA-E9-A1RG-01A-11D-A14G-09 TCGA-E9-A1RG-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81896525-0e3f-47ff-9b0d-95b45aef718c 6db47e2e-f864-4b04-8a81-45bf16681178 19 58232276 58232276 C G SNP ZNF671 ENST00000317398 human ensembl 69_37n -1 known missense c.1178 p.G393A 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 ZNF671 HGNC ENSG00000083814 30 0 0.00 22 20 47.62 - - -