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 ACTBL2 0 genome.wustl.edu 37 5 56777892 56777892 + Missense_Mutation SNP C C G TCGA-A2-A04V-01A-21W-A050-09 TCGA-A2-A04V-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89501861-2778-4b88-9a44-939fed99850d 5a514786-920b-4f35-932d-c2116fdea598 5 56777892 56777892 C G SNP ACTBL2 ENST00000423391 human ensembl 69_37n -1 known missense c.643 p.E215Q 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTBL2 HGNC ENSG00000169067 72 0 0.00 44 20 31.25 - - - CAT 0 genome.wustl.edu 37 11 34490057 34490058 + RNA INS - - A TCGA-A2-A04V-01A-21W-A050-09 TCGA-A2-A04V-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89501861-2778-4b88-9a44-939fed99850d 5a514786-920b-4f35-932d-c2116fdea598 11 34490057 34490058 - A INS CAT ENST00000525707 human ensembl 69_37n +1 putative rna NULL NULL 0.001:0.000 - - - no_errors CAT HGNC ENSG00000121691 60 0 0.00 31 4 11.43 - - - CHD9 0 genome.wustl.edu 37 16 53190227 53190227 + Missense_Mutation SNP T T G TCGA-A2-A04V-01A-21W-A050-09 TCGA-A2-A04V-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89501861-2778-4b88-9a44-939fed99850d 5a514786-920b-4f35-932d-c2116fdea598 16 53190227 53190227 T G SNP CHD9 ENST00000398510 human ensembl 69_37n +1 known missense c.226 p.S76A 0.982 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 140 0 0.00 16 47 74.60 - - - CPAMD8 0 genome.wustl.edu 37 19 17131150 17131150 + Nonsense_Mutation SNP G G C TCGA-A2-A04V-01A-21W-A050-09 TCGA-A2-A04V-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89501861-2778-4b88-9a44-939fed99850d 5a514786-920b-4f35-932d-c2116fdea598 19 17131150 17131150 G C SNP CPAMD8 ENST00000443236 human ensembl 69_37n -1 known nonsense c.431 p.S144* 1.000 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CPAMD8 HGNC ENSG00000160111 96 0 0.00 56 27 32.53 - - - DNM1P46 0 genome.wustl.edu 37 15 100340123 100340125 + RNA DEL AGA AGA - TCGA-A2-A04V-01A-21W-A050-09 TCGA-A2-A04V-10A-01W-A055-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89501861-2778-4b88-9a44-939fed99850d 5a514786-920b-4f35-932d-c2116fdea598 15 100340123 100340125 AGA - DEL DNM1P46 ENST00000341853 human ensembl 69_37n -1 known rna NULL NULL 0.899:0.883:0.880 - - - no_errors DNM1P46 HGNC ENSG00000182397 13 0 0.00 10 3 23.08 - - - DRP2 0 genome.wustl.edu 37 X 100497359 100497359 + Missense_Mutation SNP G G A TCGA-A2-A04V-01A-21W-A050-09 TCGA-A2-A04V-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89501861-2778-4b88-9a44-939fed99850d 5a514786-920b-4f35-932d-c2116fdea598 X 100497359 100497359 G A SNP DRP2 ENST00000395209 human ensembl 69_37n +1 known missense c.874 p.V292M 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin-related_2 pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DRP2 HGNC ENSG00000102385 102 0 0.00 80 16 16.67 - - - EML3 0 genome.wustl.edu 37 11 62371661 62371661 + Missense_Mutation SNP C C T TCGA-A2-A04V-01A-21W-A050-09 TCGA-A2-A04V-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89501861-2778-4b88-9a44-939fed99850d 5a514786-920b-4f35-932d-c2116fdea598 11 62371661 62371661 C T SNP EML3 ENST00000394776 human ensembl 69_37n -1 novel missense c.1978 p.G660R 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region EML3 HGNC ENSG00000149499 34 0 0.00 16 12 42.86 - - - FANCC 0 genome.wustl.edu 37 9 98011555 98011555 + Missense_Mutation SNP C C A TCGA-A2-A04V-01A-21W-A050-09 TCGA-A2-A04V-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89501861-2778-4b88-9a44-939fed99850d 5a514786-920b-4f35-932d-c2116fdea598 9 98011555 98011555 C A SNP FANCC ENST00000289081 human ensembl 69_37n -1 known missense c.19 p.D7Y 0.005 pfam_Fanconi,pirsf_Fanconi pfam_Fanconi,pirsf_Fanconi,prints_Fanconi - no_errors FANCC HGNC ENSG00000158169 102 0 0.00 29 21 41.18 - - - GPS2 0 genome.wustl.edu 37 17 7217849 7217850 + Frame_Shift_Ins INS - - T TCGA-A2-A04V-01A-21W-A050-09 TCGA-A2-A04V-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89501861-2778-4b88-9a44-939fed99850d 5a514786-920b-4f35-932d-c2116fdea598 17 7217849 7217850 - T INS GPS2 ENST00000380728 human ensembl 69_37n -1 known frame_shift_ins c.162_161 p.E55fs 1.000:1.000 NULL NULL - no_errors GPS2 HGNC ENSG00000132522 114 0 0.00 41 43 51.19 - - - GRIK5 0 genome.wustl.edu 37 19 42566998 42566998 + Missense_Mutation SNP A A T TCGA-A2-A04V-01A-21W-A050-09 TCGA-A2-A04V-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89501861-2778-4b88-9a44-939fed99850d 5a514786-920b-4f35-932d-c2116fdea598 19 42566998 42566998 A T SNP GRIK5 ENST00000301218 human ensembl 69_37n -1 known missense c.254 p.I85N 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC ENSG00000105737 89 0 0.00 38 30 44.12 - - - HEATR7B2 0 genome.wustl.edu 37 5 41058282 41058282 + Silent SNP G G A TCGA-A2-A04V-01A-21W-A050-09 TCGA-A2-A04V-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89501861-2778-4b88-9a44-939fed99850d 5a514786-920b-4f35-932d-c2116fdea598 5 41058282 41058282 G A SNP HEATR7B2 ENST00000399564 human ensembl 69_37n -1 known silent c.639 p.H213 0.930 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC ENSG00000171495 143 0 0.00 68 47 40.87 - - - HIST1H2AK 0 genome.wustl.edu 37 6 27805932 27805932 + Silent SNP C C T TCGA-A2-A04V-01A-21W-A050-09 TCGA-A2-A04V-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89501861-2778-4b88-9a44-939fed99850d 5a514786-920b-4f35-932d-c2116fdea598 6 27805932 27805932 C T SNP HIST1H2AK ENST00000330180 human ensembl 69_37n -1 known silent c.186 p.E62 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AK HGNC ENSG00000184348 128 0 0.00 127 31 19.62 - - - KANSL1 0 genome.wustl.edu 37 17 44110510 44110511 + Frame_Shift_Del DEL CA CA - TCGA-A2-A04V-01A-21W-A050-09 TCGA-A2-A04V-10A-01W-A055-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89501861-2778-4b88-9a44-939fed99850d 5a514786-920b-4f35-932d-c2116fdea598 17 44110510 44110511 CA - DEL KANSL1 ENST00000262419 human ensembl 69_37n -1 known frame_shift_del c.2773_2772 p.C924fs 1.000:1.000 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 220 0 0.00 114 65 35.91 - - - KHDRBS1 0 genome.wustl.edu 37 1 32495940 32495942 + In_Frame_Del DEL GAG GAG - TCGA-A2-A04V-01A-21W-A050-09 TCGA-A2-A04V-10A-01W-A055-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89501861-2778-4b88-9a44-939fed99850d 5a514786-920b-4f35-932d-c2116fdea598 1 32495940 32495942 GAG - DEL KHDRBS1 ENST00000327300 human ensembl 69_37n +1 known in_frame_del c.424_426 p.E143in_frame_del 1.000:0.998:0.666 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS1 HGNC ENSG00000121774 64 0 0.00 38 15 28.30 - - - KIAA0319L 0 genome.wustl.edu 37 1 35936468 35936468 + Missense_Mutation SNP G G A TCGA-A2-A04V-01A-21W-A050-09 TCGA-A2-A04V-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89501861-2778-4b88-9a44-939fed99850d 5a514786-920b-4f35-932d-c2116fdea598 1 35936468 35936468 G A SNP KIAA0319L ENST00000325722 human ensembl 69_37n -1 known missense c.1109 p.S370L 1.000 pfam_PKD/REJ-like,smart_PKD/Chitinase_dom pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319L HGNC ENSG00000142687 151 0 0.00 121 17 12.32 - - - LRIG2 0 genome.wustl.edu 37 1 113616247 113616248 + Frame_Shift_Ins INS - - C TCGA-A2-A04V-01A-21W-A050-09 TCGA-A2-A04V-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89501861-2778-4b88-9a44-939fed99850d 5a514786-920b-4f35-932d-c2116fdea598 1 113616247 113616248 - C INS LRIG2 ENST00000361127 human ensembl 69_37n +1 known frame_shift_ins c.219_220 p.D75fs 1.000:1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIG2 HGNC ENSG00000198799 13 0 0.00 13 3 18.75 - - - MIF4GD 0 genome.wustl.edu 37 17 73264205 73264206 + Frame_Shift_Del DEL AC AC - TCGA-A2-A04V-01A-21W-A050-09 TCGA-A2-A04V-10A-01W-A055-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89501861-2778-4b88-9a44-939fed99850d 5a514786-920b-4f35-932d-c2116fdea598 17 73264205 73264206 AC - DEL MIF4GD ENST00000577542 human ensembl 69_37n -1 known frame_shift_del c.274_273 p.F92fs 1.000:0.995 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold - no_errors MIF4GD HGNC ENSG00000125457 43 0 0.00 33 28 44.44 - - - MRGPRX3 0 genome.wustl.edu 37 11 18158850 18158850 + Missense_Mutation SNP C C T TCGA-A2-A04V-01A-21W-A050-09 TCGA-A2-A04V-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89501861-2778-4b88-9a44-939fed99850d 5a514786-920b-4f35-932d-c2116fdea598 11 18158850 18158850 C T SNP MRGPRX3 ENST00000396275 human ensembl 69_37n +1 known missense c.101 p.T34M 0.000 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors MRGPRX3 HGNC ENSG00000179826 172 0 0.00 59 38 39.18 - - - ODZ4 0 genome.wustl.edu 37 11 78498080 78498080 + Missense_Mutation SNP G G T TCGA-A2-A04V-01A-21W-A050-09 TCGA-A2-A04V-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89501861-2778-4b88-9a44-939fed99850d 5a514786-920b-4f35-932d-c2116fdea598 11 78498080 78498080 G T SNP ODZ4 ENST00000278550 human ensembl 69_37n -1 known missense c.2228 p.T743N 1.000 pfam_EGF_extracell,smart_EGF-like pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors ODZ4 HGNC ENSG00000149256 40 0 0.00 17 11 39.29 - - - OR5AU1 0 genome.wustl.edu 37 14 21623512 21623513 + Frame_Shift_Del DEL CG CG - TCGA-A2-A04V-01A-21W-A050-09 TCGA-A2-A04V-10A-01W-A055-09 CG CG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89501861-2778-4b88-9a44-939fed99850d 5a514786-920b-4f35-932d-c2116fdea598 14 21623512 21623513 CG - DEL OR5AU1 ENST00000304418 human ensembl 69_37n -1 known frame_shift_del c.673_672 p.V225fs 0.257:0.154 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 OR5AU1 HGNC ENSG00000169327 88 0 0.00 88 40 31.25 - - - OR5L1 0 genome.wustl.edu 37 11 55579499 55579499 + Missense_Mutation SNP G G T TCGA-A2-A04V-01A-21W-A050-09 TCGA-A2-A04V-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89501861-2778-4b88-9a44-939fed99850d 5a514786-920b-4f35-932d-c2116fdea598 11 55579499 55579499 G T SNP OR5L1 ENST00000333973 human ensembl 69_37n +1 known missense c.557 p.S186I 0.000 pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR5L1 HGNC ENSG00000186117 145 0 0.00 60 35 36.84 - - - PIK3CA 0 genome.wustl.edu 37 3 178917478 178917478 + Missense_Mutation SNP G G A TCGA-A2-A04V-01A-21W-A050-09 TCGA-A2-A04V-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89501861-2778-4b88-9a44-939fed99850d 5a514786-920b-4f35-932d-c2116fdea598 3 178917478 178917478 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.353 p.G118D 1.000 NULL 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 97 0 0.00 43 32 42.67 - - - PLEKHA2 0 genome.wustl.edu 37 8 38809720 38809721 + Frame_Shift_Ins INS - - C TCGA-A2-A04V-01A-21W-A050-09 TCGA-A2-A04V-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89501861-2778-4b88-9a44-939fed99850d 5a514786-920b-4f35-932d-c2116fdea598 8 38809720 38809721 - C INS PLEKHA2 ENST00000420274 human ensembl 69_37n +1 known frame_shift_ins c.523_524 p.H176fs 0.486:0.798 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA2 HGNC ENSG00000169499 212 0 0.00 270 30 10.00 - - - SFRP1 0 genome.wustl.edu 37 8 41166156 41166156 + Missense_Mutation SNP T T G TCGA-A2-A04V-01A-21W-A050-09 TCGA-A2-A04V-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89501861-2778-4b88-9a44-939fed99850d 5a514786-920b-4f35-932d-c2116fdea598 8 41166156 41166156 T G SNP SFRP1 ENST00000220772 human ensembl 69_37n -1 known missense c.523 p.T175P 1.000 superfamily_Frizzled_dom pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP1 HGNC ENSG00000104332 70 0 0.00 34 6 14.63 - - - SPTB 0 genome.wustl.edu 37 14 65266520 65266520 + Missense_Mutation SNP C C T TCGA-A2-A04V-01A-21W-A050-09 TCGA-A2-A04V-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89501861-2778-4b88-9a44-939fed99850d 5a514786-920b-4f35-932d-c2116fdea598 14 65266520 65266520 C T SNP SPTB ENST00000389722 human ensembl 69_37n -1 known missense c.1009 p.V337I 0.995 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 91 0 0.00 34 20 37.04 - - - SV2A 0 genome.wustl.edu 37 1 149879682 149879682 + Missense_Mutation SNP C C T TCGA-A2-A04V-01A-21W-A050-09 TCGA-A2-A04V-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89501861-2778-4b88-9a44-939fed99850d 5a514786-920b-4f35-932d-c2116fdea598 1 149879682 149879682 C T SNP SV2A ENST00000369146 human ensembl 69_37n -1 known missense c.1456 p.V486M 0.992 pfscan_MFS_dom,tigrfam_SV2_chordata pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata - no_errors SV2A HGNC ENSG00000159164 196 0 0.00 107 77 41.85 - - - TAPT1 0 genome.wustl.edu 37 4 16193020 16193020 + Missense_Mutation SNP G G A TCGA-A2-A04V-01A-21W-A050-09 TCGA-A2-A04V-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89501861-2778-4b88-9a44-939fed99850d 5a514786-920b-4f35-932d-c2116fdea598 4 16193020 16193020 G A SNP TAPT1 ENST00000513782 human ensembl 69_37n -1 known missense c.88 p.R30C 0.804 pfam_Membrane_Tatp1/CMV_rcpt pfam_Membrane_Tatp1/CMV_rcpt - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TAPT1 HGNC ENSG00000169762 65 0 0.00 43 22 33.33 - - - TMEM246 0 genome.wustl.edu 37 9 104238634 104238634 + Missense_Mutation SNP G G T TCGA-A2-A04V-01A-21W-A050-09 TCGA-A2-A04V-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89501861-2778-4b88-9a44-939fed99850d 5a514786-920b-4f35-932d-c2116fdea598 9 104238634 104238634 G T SNP TMEM246 ENST00000374847 human ensembl 69_37n -1 known missense c.741 p.H247Q 1.000 NULL NULL - no_errors TMEM246 HGNC ENSG00000165152 115 0 0.00 43 27 38.57 - - - TMIGD2 0 genome.wustl.edu 37 19 4294613 4294613 + Nonsense_Mutation SNP C C T TCGA-A2-A04V-01A-21W-A050-09 TCGA-A2-A04V-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89501861-2778-4b88-9a44-939fed99850d 5a514786-920b-4f35-932d-c2116fdea598 19 4294613 4294613 C T SNP TMIGD2 ENST00000301272 human ensembl 69_37n -1 known nonsense c.513 p.W171* 0.007 NULL smart_Ig_sub,pfscan_Ig-like - no_errors TMIGD2 HGNC ENSG00000167664 74 0 0.00 24 9 26.47 - - - TRMT12 0 genome.wustl.edu 37 8 125463552 125463552 + Silent SNP T T C TCGA-A2-A04V-01A-21W-A050-09 TCGA-A2-A04V-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89501861-2778-4b88-9a44-939fed99850d 5a514786-920b-4f35-932d-c2116fdea598 8 125463552 125463552 T C SNP TRMT12 ENST00000328599 human ensembl 69_37n +1 known silent c.384 p.A128 0.856 NULL pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TRMT12 HGNC ENSG00000183665 93 0 0.00 69 13 15.85 - - - UBAP2L 0 genome.wustl.edu 37 1 154227320 154227320 + Silent SNP C C T TCGA-A2-A04V-01A-21W-A050-09 TCGA-A2-A04V-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89501861-2778-4b88-9a44-939fed99850d 5a514786-920b-4f35-932d-c2116fdea598 1 154227320 154227320 C T SNP UBAP2L ENST00000361546 human ensembl 69_37n +1 known silent c.1863 p.F621 1.000 NULL pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2L HGNC ENSG00000143569 370 3 0.80 132 89 40.27 - - - ZDHHC1 0 genome.wustl.edu 37 16 67432541 67432541 + Missense_Mutation SNP A A C TCGA-A2-A04V-01A-21W-A050-09 TCGA-A2-A04V-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89501861-2778-4b88-9a44-939fed99850d 5a514786-920b-4f35-932d-c2116fdea598 16 67432541 67432541 A C SNP ZDHHC1 ENST00000348579 human ensembl 69_37n -1 known missense c.749 p.L250R 0.998 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC1 HGNC ENSG00000159714 77 0 0.00 3 7 70.00 - - - ZNF843 0 genome.wustl.edu 37 16 31447564 31447564 + Missense_Mutation SNP C C T TCGA-A2-A04V-01A-21W-A050-09 TCGA-A2-A04V-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89501861-2778-4b88-9a44-939fed99850d 5a514786-920b-4f35-932d-c2116fdea598 16 31447564 31447564 C T SNP ZNF843 ENST00000315678 human ensembl 69_37n -1 known missense c.607 p.G203R 0.001 NULL pfscan_Znf_C2H2 - no_errors ZNF843 HGNC ENSG00000176723 116 0 0.00 6 8 57.14 - - - ZXDA 0 genome.wustl.edu 37 X 57935544 57935544 + Silent SNP C C A TCGA-A2-A04V-01A-21W-A050-09 TCGA-A2-A04V-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89501861-2778-4b88-9a44-939fed99850d 5a514786-920b-4f35-932d-c2116fdea598 X 57935544 57935544 C A SNP ZXDA ENST00000358697 human ensembl 69_37n -1 known silent c.1311 p.L437 0.996 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDA HGNC ENSG00000198205 139 0 0.00 84 59 41.26 - - -