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 ACLY 0 genome.wustl.edu 37 17 40030163 40030163 + Missense_Mutation SNP C C T TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 17 40030163 40030163 C T SNP ACLY ENST00000352035 human ensembl 69_37n -1 known missense c.2543 p.R848Q 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 29 0 0.00 45 26 36.62 - - - AOC3 0 genome.wustl.edu 37 17 41008381 41008381 + Silent SNP C C T TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 17 41008381 41008381 C T SNP AOC3 ENST00000308423 human ensembl 69_37n +1 known silent c.2106 p.G702 1.000 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC3 HGNC ENSG00000131471 88 0 0.00 45 29 39.19 - - - ATP9A 0 genome.wustl.edu 37 20 50235558 50235558 + Missense_Mutation SNP G G A TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 20 50235558 50235558 G A SNP ATP9A ENST00000338821 human ensembl 69_37n -1 known missense c.2140 p.L714F 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP9A HGNC ENSG00000054793 31 0 0.00 17 39 69.64 - - - BRDT 0 genome.wustl.edu 37 1 92445220 92445220 + Missense_Mutation SNP G G A TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 1 92445220 92445220 G A SNP BRDT ENST00000362005 human ensembl 69_37n +1 known missense c.1193 p.G398D 0.126 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRDT HGNC ENSG00000137948 99 0 0.00 85 22 20.56 - - - BTN2A1 0 genome.wustl.edu 37 6 26459794 26459795 + Frame_Shift_Ins INS - - A TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 6 26459794 26459795 - A INS BTN2A1 ENST00000312541 human ensembl 69_37n +1 known frame_shift_ins c.168_169 p.N57fs 0.877:0.868 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like - no_errors BTN2A1 HGNC ENSG00000112763 272 0 0.00 197 93 32.07 - - - C19orf44 0 genome.wustl.edu 37 19 16611796 16611796 + Missense_Mutation SNP A A C TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 19 16611796 16611796 A C SNP C19orf44 ENST00000221671 human ensembl 69_37n +1 known missense c.193 p.K65Q 0.000 NULL NULL - no_errors C19orf44 HGNC ENSG00000105072 51 0 0.00 49 17 25.76 - - - CEP76 0 genome.wustl.edu 37 18 12697393 12697393 + Missense_Mutation SNP T T C TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 18 12697393 12697393 T C SNP CEP76 ENST00000262127 human ensembl 69_37n -1 known missense c.535 p.M179V 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors CEP76 HGNC ENSG00000101624 129 0 0.00 91 38 29.46 - - - CFTR 0 genome.wustl.edu 37 7 117305522 117305530 + In_Frame_Del DEL AATAATTAG AATAATTAG - TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 AATAATTAG AATAATTAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 7 117305522 117305530 AATAATTAG - DEL CFTR ENST00000003084 human ensembl 69_37n +1 known in_frame_del c.4146_4154 p.IIR1383in_frame_del 0.997:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 143 0 0.00 63 13 17.11 - - - CIT 0 genome.wustl.edu 37 12 120146063 120146063 + Missense_Mutation SNP G G A TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 12 120146063 120146063 G A SNP CIT ENST00000261833 human ensembl 69_37n -1 known missense c.5006 p.S1669F 1.000 pfam_Citron,smart_Citron,pirsf_Citron_Rho-interacting_kinase pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CIT HGNC ENSG00000122966 112 0 0.00 64 55 46.22 - - - CSMD1 0 genome.wustl.edu 37 8 3216673 3216673 + Splice_Site SNP C C T TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 8 3216673 3216673 C T SNP CSMD1 ENST00000520002 human ensembl 69_37n -1 known splice_site c.3307+1 e22+1 1.000 - - - no_errors CSMD1 HGNC ENSG00000183117 55 0 0.00 24 10 29.41 - - - DMRTA1 0 genome.wustl.edu 37 9 22451646 22451646 + Silent SNP T T A TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 9 22451646 22451646 T A SNP DMRTA1 ENST00000325870 human ensembl 69_37n +1 known silent c.1251 p.A417 0.683 NULL pfam_DM_DNA-bd,pfam_DMA,superfamily_DM_DNA-bd,superfamily_UBA-like,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTA1 HGNC ENSG00000176399 39 0 0.00 61 44 41.51 - - - DYNC2H1 0 genome.wustl.edu 37 11 103055626 103055626 + Missense_Mutation SNP A A G TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 11 103055626 103055626 A G SNP DYNC2H1 ENST00000398093 human ensembl 69_37n +1 known missense c.6479 p.N2160S 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 247 0 0.00 169 84 33.20 - - - DYRK2 0 genome.wustl.edu 37 12 68051820 68051820 + Missense_Mutation SNP G G T TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 12 68051820 68051820 G T SNP DYRK2 ENST00000344096 human ensembl 69_37n +1 known missense c.1133 p.R378L 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DYRK2 HGNC ENSG00000127334 197 0 0.00 93 38 29.01 - - - EFNB1 0 genome.wustl.edu 37 X 68060260 68060260 + Silent SNP G G A TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 X 68060260 68060260 G A SNP EFNB1 ENST00000204961 human ensembl 69_37n +1 known silent c.804 p.R268 0.982 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB1 HGNC ENSG00000090776 45 0 0.00 60 20 25.00 - - - EPHB3 0 genome.wustl.edu 37 3 184299398 184299398 + Silent SNP T T C TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 3 184299398 184299398 T C SNP EPHB3 ENST00000330394 human ensembl 69_37n +1 known silent c.2985 p.P995 0.091 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_SAM/pointed pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHB3 HGNC ENSG00000182580 8 0 0.00 38 11 22.45 - - - FAT2 0 genome.wustl.edu 37 5 150925419 150925419 + Missense_Mutation SNP T T C TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 5 150925419 150925419 T C SNP FAT2 ENST00000261800 human ensembl 69_37n -1 known missense c.5269 p.M1757V 0.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 162 0 0.00 43 109 71.71 - - - FAT3 0 genome.wustl.edu 37 11 92543074 92543074 + Missense_Mutation SNP G G A TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 11 92543074 92543074 G A SNP FAT3 ENST00000298047 human ensembl 69_37n +1 known missense c.9313 p.A3105T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT3 HGNC ENSG00000165323 75 0 0.00 55 24 30.38 - - - FBN2 0 genome.wustl.edu 37 5 127855061 127855061 + Missense_Mutation SNP G G T TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 5 127855061 127855061 G T SNP FBN2 ENST00000262464 human ensembl 69_37n -1 known missense c.533 p.P178H 1.000 pirsf_Fibrillin,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 76 0 0.00 53 12 18.46 - - - HDAC9 0 genome.wustl.edu 37 7 18801793 18801793 + Missense_Mutation SNP G G T TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 7 18801793 18801793 G T SNP HDAC9 ENST00000441542 human ensembl 69_37n +1 known missense c.2057 p.R686L 1.000 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC9 HGNC ENSG00000048052 87 0 0.00 39 76 64.41 - - - ITGA2B 0 genome.wustl.edu 37 17 42454377 42454377 + Missense_Mutation SNP C C T TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 17 42454377 42454377 C T SNP ITGA2B ENST00000262407 human ensembl 69_37n -1 known missense c.2267 p.S756N 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA2B HGNC ENSG00000005961 26 0 0.00 48 22 31.43 - - - ITGA8 0 genome.wustl.edu 37 10 15628600 15628600 + Silent SNP C C T TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 10 15628600 15628600 C T SNP ITGA8 ENST00000378076 human ensembl 69_37n -1 known silent c.2355 p.A785 0.924 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC ENSG00000077943 194 0 0.00 143 60 29.56 - - - MLL3 0 genome.wustl.edu 37 7 151896496 151896496 + Missense_Mutation SNP T T C TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 7 151896496 151896496 T C SNP MLL3 ENST00000355193 human ensembl 69_37n -1 known missense c.4141 p.I1381V 0.927 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 130 0 0.00 33 77 70.00 - - - MORN5 0 genome.wustl.edu 37 9 124936830 124936830 + Silent SNP C C T TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 9 124936830 124936830 C T SNP MORN5 ENST00000536616 human ensembl 69_37n +1 known silent c.363 p.Y121 0.977 NULL pfam_MORN,smart_MORN - no_errors MORN5 HGNC ENSG00000185681 137 0 0.00 107 55 33.95 - - - MOV10L1 0 genome.wustl.edu 37 22 50553671 50553671 + Missense_Mutation SNP G G A TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 22 50553671 50553671 G A SNP MOV10L1 ENST00000262794 human ensembl 69_37n +1 known missense c.1255 p.G419R 0.948 NULL superfamily_NA-bd_OB-fold-like - no_errors MOV10L1 HGNC ENSG00000073146 44 0 0.00 33 13 28.26 - - - MYL1 0 genome.wustl.edu 37 2 211179766 211179766 + Frame_Shift_Del DEL T T - TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 2 211179766 211179766 T - DEL MYL1 ENST00000352451 human ensembl 69_37n -1 known frame_shift_del c.1 p.M1fs 1.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MYL1 HGNC ENSG00000168530 41 0 0.00 49 21 28.38 - - - OGDHL 0 genome.wustl.edu 37 10 50966465 50966465 + Silent SNP G G A TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 10 50966465 50966465 G A SNP OGDHL ENST00000374103 human ensembl 69_37n -1 known silent c.174 p.A58 0.996 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 8 0 0.00 9 4 30.77 - - - OR51A2 0 genome.wustl.edu 37 11 4976683 4976683 + Silent SNP G G A TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 11 4976683 4976683 G A SNP OR51A2 ENST00000380371 human ensembl 69_37n -1 known silent c.261 p.F87 0.001 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR51A2 HGNC ENSG00000205496 110 0 0.00 34 50 59.52 - - - OR52E4 0 genome.wustl.edu 37 11 5905807 5905807 + Silent SNP C C T TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 11 5905807 5905807 C T SNP OR52E4 ENST00000316987 human ensembl 69_37n +1 known silent c.285 p.S95 0.006 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR52E4 HGNC ENSG00000180974 91 0 0.00 82 29 25.89 - - - PCDHGB2 0 genome.wustl.edu 37 5 140740551 140740551 + Silent SNP T T C TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 5 140740551 140740551 T C SNP PCDHGB2 ENST00000522605 human ensembl 69_37n +1 known silent c.849 p.N283 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB2 HGNC ENSG00000253910 30 0 0.00 38 22 36.67 - - - PHACTR1 0 genome.wustl.edu 37 6 13230284 13230286 + In_Frame_Del DEL AGG AGG - TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 6 13230284 13230286 AGG - DEL PHACTR1 ENST00000432934 human ensembl 69_37n +1 known in_frame_del c.1457_1459 p.KV486in_frame_delI 1.000:1.000:1.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR1 HGNC ENSG00000112137 45 0 0.00 49 20 28.57 - - - PPM1H 0 genome.wustl.edu 37 12 63042385 63042385 + Missense_Mutation SNP G G A TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 12 63042385 63042385 G A SNP PPM1H ENST00000228705 human ensembl 69_37n -1 known missense c.1429 p.R477C 1.000 superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1H HGNC ENSG00000111110 105 0 0.00 81 44 34.92 - - - PTEN 0 genome.wustl.edu 37 10 89685293 89685298 + In_Frame_Del DEL ACCATT ACCATT - TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 ACCATT ACCATT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 10 89685293 89685298 ACCATT - DEL PTEN ENST00000371953 human ensembl 69_37n +1 known in_frame_del c.188_193 p.HY64in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 104 0 0.00 41 21 33.87 - - - SLC6A4 0 genome.wustl.edu 37 17 28545941 28545941 + Missense_Mutation SNP G G A TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 17 28545941 28545941 G A SNP SLC6A4 ENST00000261707 human ensembl 69_37n -1 known missense c.352 p.L118F 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfam_Na/ntran_symport_serotonin_N,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_serotonin_N - no_errors SLC6A4 HGNC ENSG00000108576 69 0 0.00 71 35 33.02 - - - SORBS2 0 genome.wustl.edu 37 4 186544158 186544158 + Missense_Mutation SNP A A T TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 4 186544158 186544158 A T SNP SORBS2 ENST00000284776 human ensembl 69_37n -1 known missense c.2413 p.C805S 0.444 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 35 0 0.00 32 24 42.86 - - - TP53 0 genome.wustl.edu 37 17 7579343 7579351 + In_Frame_Del DEL TGCAAGAAG TGCAAGAAG - TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 TGCAAGAAG TGCAAGAAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 17 7579343 7579351 TGCAAGAAG - DEL TP53 ENST00000269305 human ensembl 69_37n -1 known in_frame_del c.344_336 p.FLH113in_frame_del 0.930:0.938:0.948:0.998:1.000:1.000:1.000:0.999:0.805 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 99 0 0.00 7 6 46.15 - - - VKORC1 0 genome.wustl.edu 37 16 31104727 31104727 + Missense_Mutation SNP G G A TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d3206c6-0ca8-4b2b-a160-b1719217f9c7 db8da47e-0daa-4ebc-81fa-756dacf71ca7 16 31104727 31104727 G A SNP VKORC1 ENST00000498155 human ensembl 69_37n -1 putative missense c.286 p.R96W 0.840 NULL NULL - no_errors VKORC1 HGNC ENSG00000167397 66 0 0.00 32 21 39.62 - - -