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 ABCB7 0 genome.wustl.edu 37 X 74376106 74376106 + Missense_Mutation SNP A A G TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 X 74376106 74376106 A G SNP ABCB7 ENST00000253577 human ensembl 69_37n -1 known missense c.2 p.M1T 1.000 NULL 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 - no_errors ABCB7 HGNC ENSG00000131269 10 0 0.00 5 4 44.44 - - - ANKRA2 0 genome.wustl.edu 37 5 72858604 72858604 + Missense_Mutation SNP G G A TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 5 72858604 72858604 G A SNP ANKRA2 ENST00000296785 human ensembl 69_37n -1 known missense c.103 p.P35S 0.085 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 ANKRA2 HGNC ENSG00000164331 83 0 0.00 54 8 12.70 - - - ANO6 0 genome.wustl.edu 37 12 45781974 45781974 + Missense_Mutation SNP G G A TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 12 45781974 45781974 G A SNP ANO6 ENST00000425752 human ensembl 69_37n +1 known missense c.1196 p.R399H 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO6 HGNC ENSG00000177119 75 0 0.00 65 12 15.38 - - - APCDD1L 0 genome.wustl.edu 37 20 57036021 57036021 + Missense_Mutation SNP C C T TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 20 57036021 57036021 C T SNP APCDD1L ENST00000439429 human ensembl 69_37n -1 known missense c.1364 p.R455H 0.994 NULL NULL - no_errors APCDD1L HGNC ENSG00000198768 48 0 0.00 17 7 29.17 - - - ARID5B 0 genome.wustl.edu 37 10 63851397 63851397 + Missense_Mutation SNP G G C TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 10 63851397 63851397 G C SNP ARID5B ENST00000279873 human ensembl 69_37n +1 known missense c.2175 p.R725S 0.998 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5B HGNC ENSG00000150347 49 0 0.00 33 8 19.51 - - - BMP8A 0 genome.wustl.edu 37 1 39988145 39988145 + Silent SNP T T C TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 1 39988145 39988145 T C SNP BMP8A ENST00000331593 human ensembl 69_37n +1 known silent c.939 p.L313 0.010 pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP8A HGNC ENSG00000183682 50 0 0.00 16 2 11.11 - - - C20orf132 0 genome.wustl.edu 37 20 35731179 35731179 + Missense_Mutation SNP G G C TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 20 35731179 35731179 G C SNP C20orf132 ENST00000400441 human ensembl 69_37n -1 known missense c.3040 p.L1014V 0.996 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C20orf132 HGNC ENSG00000101353 84 0 0.00 35 48 57.83 - - - CCNB3 0 genome.wustl.edu 37 X 50031866 50031866 + Silent SNP A A C TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 X 50031866 50031866 A C SNP CCNB3 ENST00000276014 human ensembl 69_37n +1 known silent c.183 p.S61 0.998 NULL pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 69 0 0.00 62 16 20.51 - - - CELA3B 0 genome.wustl.edu 37 1 22304922 22304922 + Missense_Mutation SNP C C T TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 1 22304922 22304922 C T SNP CELA3B ENST00000337107 human ensembl 69_37n +1 known missense c.104 p.A35V 0.979 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CELA3B HGNC ENSG00000219073 143 0 0.00 29 36 55.38 - - - CLCN5 0 genome.wustl.edu 37 X 49845354 49845354 + Missense_Mutation SNP G G A TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 X 49845354 49845354 G A SNP CLCN5 ENST00000376088 human ensembl 69_37n +1 known missense c.707 p.C236Y 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-5 - no_errors CLCN5 HGNC ENSG00000171365 129 0 0.00 79 15 15.96 - - - CLU 0 genome.wustl.edu 37 8 27461880 27461880 + Missense_Mutation SNP T T C TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 8 27461880 27461880 T C SNP CLU ENST00000560366 human ensembl 69_37n -1 known missense c.1018 p.I340V 1.000 pfam_Clusterin-like,smart_Clusterin_C pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C - no_errors CLU HGNC ENSG00000120885 56 0 0.00 16 29 64.44 - - - COL6A3 0 genome.wustl.edu 37 2 238253585 238253585 + Silent SNP G G A TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 2 238253585 238253585 G A SNP COL6A3 ENST00000295550 human ensembl 69_37n -1 known silent c.7173 p.Y2391 0.286 NULL pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 70 0 0.00 58 11 15.94 - - - COMMD7 0 genome.wustl.edu 37 20 31294404 31294404 + Missense_Mutation SNP G G A TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 20 31294404 31294404 G A SNP COMMD7 ENST00000278980 human ensembl 69_37n -1 known missense c.317 p.A106V 1.000 pfam_HCaRG pfam_HCaRG - no_errors COMMD7 HGNC ENSG00000149600 74 0 0.00 40 33 45.21 - - - CROCCP2 0 genome.wustl.edu 37 1 16949330 16949331 + RNA INS - - A TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 1 16949330 16949331 - A INS CROCCP2 ENST00000421700 human ensembl 69_37n -1 known rna NULL NULL 0.186:0.186 - - - no_errors CROCCP2 HGNC ENSG00000215908 9 0 0.00 10 4 28.57 - - - DENND5B 0 genome.wustl.edu 37 12 31579329 31579329 + Silent SNP T T C TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 12 31579329 31579329 T C SNP DENND5B ENST00000306833 human ensembl 69_37n -1 known silent c.2241 p.G747 0.740 NULL pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run - no_errors DENND5B HGNC ENSG00000170456 77 0 0.00 47 16 25.40 - - - DLC1 0 genome.wustl.edu 37 8 12956964 12956964 + Missense_Mutation SNP G G T TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 8 12956964 12956964 G T SNP DLC1 ENST00000276297 human ensembl 69_37n -1 known missense c.2882 p.P961H 0.996 NULL pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 139 0 0.00 96 70 42.17 - - - DMPK 0 genome.wustl.edu 37 19 46282601 46282601 + Missense_Mutation SNP T T G TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 19 46282601 46282601 T G SNP DMPK ENST00000343373 human ensembl 69_37n -1 known missense c.383 p.E128A 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors DMPK HGNC ENSG00000104936 76 0 0.00 25 21 45.65 - - - DSCAM 0 genome.wustl.edu 37 21 41710185 41710185 + Silent SNP G G A TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 21 41710185 41710185 G A SNP DSCAM ENST00000400454 human ensembl 69_37n -1 known silent c.1626 p.N542 0.092 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAM HGNC ENSG00000171587 100 0 0.00 58 24 29.27 - - - EGFR 0 genome.wustl.edu 37 7 55211097 55211097 + Missense_Mutation SNP G G A TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 7 55211097 55211097 G A SNP EGFR ENST00000275493 human ensembl 69_37n +1 known missense c.340 p.E114K 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EGFR HGNC ENSG00000146648 51 0 0.00 26 26 50.00 - - - FAM122C 0 genome.wustl.edu 37 X 133979418 133979418 + Frame_Shift_Del DEL A A - TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 X 133979418 133979418 A - DEL FAM122C ENST00000370784 human ensembl 69_37n +1 known frame_shift_del c.332 p.G112fs 0.148 NULL NULL - no_errors FAM122C HGNC ENSG00000156500 21 0 0.00 11 5 29.41 - - - FHOD3 0 genome.wustl.edu 37 18 34297797 34297797 + Missense_Mutation SNP T T G TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 18 34297797 34297797 T G SNP FHOD3 ENST00000257209 human ensembl 69_37n +1 known missense c.2011 p.L671V 0.962 NULL pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHOD3 HGNC ENSG00000134775 92 0 0.00 62 23 27.06 - - - FKBP15 0 genome.wustl.edu 37 9 115931891 115931891 + Frame_Shift_Del DEL G G - TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 9 115931891 115931891 G - DEL FKBP15 ENST00000238256 human ensembl 69_37n -1 known frame_shift_del c.3098 p.P1033fs 0.148 NULL pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom - no_errors FKBP15 HGNC ENSG00000119321 76 0 0.00 8 2 20.00 - - - GOLGA6L2 0 genome.wustl.edu 37 15 23685064 23685064 + Missense_Mutation SNP A A G TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 15 23685064 23685064 A G SNP GOLGA6L2 ENST00000567107 human ensembl 69_37n -1 putative missense c.2558 p.V853A 0.000 NULL NULL - no_errors GOLGA6L2 HGNC ENSG00000174450 33 0 0.00 28 6 17.65 - - - GRIPAP1 0 genome.wustl.edu 37 X 48853758 48853758 + Silent SNP T T A TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 X 48853758 48853758 T A SNP GRIPAP1 ENST00000376441 human ensembl 69_37n -1 known silent c.210 p.V70 0.863 NULL superfamily_Prefoldin - no_errors GRIPAP1 HGNC ENSG00000068400 86 0 0.00 43 15 25.86 - - - GRM5 0 genome.wustl.edu 37 11 88583174 88583174 + Missense_Mutation SNP C C T TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 11 88583174 88583174 C T SNP GRM5 ENST00000305447 human ensembl 69_37n -1 known missense c.811 p.A271T 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1 - no_errors GRM5 HGNC ENSG00000168959 56 0 0.00 30 14 31.82 - - - IL22RA2 0 genome.wustl.edu 37 6 137482869 137482869 + Silent SNP G G A TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 6 137482869 137482869 G A SNP IL22RA2 ENST00000296980 human ensembl 69_37n -1 known silent c.18 p.C6 0.643 NULL pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 - no_errors IL22RA2 HGNC ENSG00000164485 40 0 0.00 17 15 46.88 - - - KDM4E 0 genome.wustl.edu 37 11 94759549 94759549 + Nonsense_Mutation SNP C C A TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 11 94759549 94759549 C A SNP KDM4E ENST00000450979 human ensembl 69_37n +1 known nonsense c.828 p.Y276* 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4E HGNC ENSG00000235268 55 0 0.00 16 9 36.00 - - - KIF21A 0 genome.wustl.edu 37 12 39734847 39734848 + Frame_Shift_Ins INS - - TTAA TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 12 39734847 39734848 - TTAA INS KIF21A ENST00000395670 human ensembl 69_37n -1 known frame_shift_ins c.1971_1970 p.K657fs 1.000:1.000 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIF21A HGNC ENSG00000139116 138 0 0.00 100 16 13.79 - - - MSGN1 0 genome.wustl.edu 37 2 17997955 17997955 + Missense_Mutation SNP C C T TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 2 17997955 17997955 C T SNP MSGN1 ENST00000281047 human ensembl 69_37n +1 known missense c.170 p.S57F 0.700 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors MSGN1 HGNC ENSG00000151379 22 0 0.00 6 5 45.45 - - - OR5I1 0 genome.wustl.edu 37 11 55703086 55703086 + Missense_Mutation SNP G G C TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 11 55703086 55703086 G C SNP OR5I1 ENST00000301532 human ensembl 69_37n -1 known missense c.791 p.P264R 0.944 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5I1 HGNC ENSG00000167825 61 0 0.00 27 18 40.00 - - - OTUB1 0 genome.wustl.edu 37 11 63753882 63753882 + Missense_Mutation SNP G G C TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 11 63753882 63753882 G C SNP OTUB1 ENST00000422031 human ensembl 69_37n +1 known missense c.65 p.R22P 0.359 NULL pfam_Peptidase_C65_otubain,pfam_OTU,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU - no_errors OTUB1 HGNC ENSG00000167770 17 0 0.00 12 4 25.00 - - - PCDHA2 0 genome.wustl.edu 37 5 140174848 140174848 + Missense_Mutation SNP C C T TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 5 140174848 140174848 C T SNP PCDHA2 ENST00000526136 human ensembl 69_37n +1 known missense c.299 p.A100V 0.000 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 66 0 0.00 24 7 22.58 - - - PER1 0 genome.wustl.edu 37 17 8051116 8051116 + Missense_Mutation SNP G G A TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 17 8051116 8051116 G A SNP PER1 ENST00000317276 human ensembl 69_37n -1 known missense c.1264 p.H422Y 1.000 pfam_PAS_fold_3 pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors PER1 HGNC ENSG00000179094 41 0 0.00 5 6 54.55 - - - PIK3CA 0 genome.wustl.edu 37 3 178927430 178927430 + Missense_Mutation SNP G G A TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 3 178927430 178927430 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1193 p.R398H 1.000 pfam_PI3K_C2_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 105 0 0.00 72 19 20.88 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 31 0 0.00 16 19 54.29 - - - PTPN22 0 genome.wustl.edu 37 1 114377000 114377000 + Silent SNP T T A TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 1 114377000 114377000 T A SNP PTPN22 ENST00000359785 human ensembl 69_37n -1 known silent c.1956 p.T652 0.100 pirsf_Non-rcpt_Tyr_Pase_8/22 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Non-rcpt_Tyr_Pase_8/22,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN22 HGNC ENSG00000134242 81 0 0.00 67 14 17.28 - - - RBMX 0 genome.wustl.edu 37 X 135960146 135960147 + Frame_Shift_Ins INS - - AA TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 X 135960146 135960147 - AA INS RBMX ENST00000320676 human ensembl 69_37n -1 known frame_shift_ins c.316_315 p.P105fs 1.000:1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMX HGNC ENSG00000147274 67 0 0.00 69 10 12.66 - - - SAGE1 0 genome.wustl.edu 37 X 134992588 134992588 + Missense_Mutation SNP C C T TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 X 134992588 134992588 C T SNP SAGE1 ENST00000324447 human ensembl 69_37n +1 known missense c.1879 p.H627Y 0.018 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 85 0 0.00 64 9 12.33 - - - SCN2A 0 genome.wustl.edu 37 2 166221684 166221684 + Missense_Mutation SNP G G A TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 2 166221684 166221684 G A SNP SCN2A ENST00000283256 human ensembl 69_37n +1 known missense c.3431 p.S1144N 1.000 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 39 0 0.00 24 10 29.41 - - - SRSF11 0 genome.wustl.edu 37 1 70712533 70712533 + Missense_Mutation SNP G G C TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 1 70712533 70712533 G C SNP SRSF11 ENST00000370950 human ensembl 69_37n +1 known missense c.965 p.R322P 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF11 HGNC ENSG00000116754 72 0 0.00 47 9 16.07 - - - TNRC6B 0 genome.wustl.edu 37 22 40661738 40661738 + Missense_Mutation SNP A A G TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 22 40661738 40661738 A G SNP TNRC6B ENST00000454349 human ensembl 69_37n +1 known missense c.1504 p.M502V 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC ENSG00000100354 34 0 0.00 7 5 41.67 - - - TP53 0 genome.wustl.edu 37 17 7578394 7578394 + Missense_Mutation SNP T T C TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 17 7578394 7578394 T C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.536 p.H179R 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 61 0 0.00 12 15 55.56 - - - UBAP2 0 genome.wustl.edu 37 9 33923840 33923841 + In_Frame_Ins INS - - GGG TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 9 33923840 33923841 - GGG INS UBAP2 ENST00000360802 human ensembl 69_37n -1 known in_frame_ins c.2749_2748 p.916in_frame_insP 1.000:1.000 NULL pfam_DUF3697_Uba2,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2 HGNC ENSG00000137073 243 0 0.00 36 5 12.20 - - - USP10 0 genome.wustl.edu 37 16 84778300 84778300 + Missense_Mutation SNP G G T TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 16 84778300 84778300 G T SNP USP10 ENST00000570191 human ensembl 69_37n +1 known missense c.225 p.L75F 0.138 NULL pfam_Peptidase_C19,pfam_Ataxin-2_C,pfscan_Peptidase_C19 - no_errors USP10 HGNC ENSG00000103194 67 0 0.00 48 17 26.15 - - - ZNF564 0 genome.wustl.edu 37 19 12639170 12639171 + Frame_Shift_Ins INS - - T TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d31358da-639c-4fe5-9f7c-c17c31fd2865 0917f25a-6777-491e-9ecd-64183b063739 19 12639170 12639171 - T INS ZNF564 ENST00000339282 human ensembl 69_37n -1 known frame_shift_ins c.139_138 p.W46fs 0.833:0.789 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF564 HGNC ENSG00000249709 77 0 0.00 35 20 36.36 - - -