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 ARHGEF40 0 genome.wustl.edu 37 14 21543297 21543297 + Nonsense_Mutation SNP G G T TCGA-B6-A401-01A-11D-A23C-09 TCGA-B6-A401-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c4c02c3-179f-4833-850a-131a002cf99a 43e7f97e-c87c-4f11-94fd-98b925fc45bc 14 21543297 21543297 G T SNP ARHGEF40 ENST00000298694 human ensembl 69_37n +1 known nonsense c.1408 p.G470* 0.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF40 HGNC ENSG00000165801 32 0 0.00 21 5 18.52 - - - C1orf123 0 genome.wustl.edu 37 1 53685853 53685853 + RNA SNP C C A TCGA-B6-A401-01A-11D-A23C-09 TCGA-B6-A401-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c4c02c3-179f-4833-850a-131a002cf99a 43e7f97e-c87c-4f11-94fd-98b925fc45bc 1 53685853 53685853 C A SNP C1orf123 ENST00000474227 human ensembl 69_37n -1 known rna NULL NULL 0.006 - - - no_errors C1orf123 HGNC ENSG00000162384 121 0 0.00 83 14 14.43 - - - CDH15 0 genome.wustl.edu 37 16 89256807 89256807 + Missense_Mutation SNP C C T TCGA-B6-A401-01A-11D-A23C-09 TCGA-B6-A401-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c4c02c3-179f-4833-850a-131a002cf99a 43e7f97e-c87c-4f11-94fd-98b925fc45bc 16 89256807 89256807 C T SNP CDH15 ENST00000289746 human ensembl 69_37n +1 known missense c.1135 p.P379S 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH15 HGNC ENSG00000129910 93 0 0.00 71 18 20.00 - - - CEP57 0 genome.wustl.edu 37 11 95564204 95564204 + Missense_Mutation SNP G G T TCGA-B6-A401-01A-11D-A23C-09 TCGA-B6-A401-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c4c02c3-179f-4833-850a-131a002cf99a 43e7f97e-c87c-4f11-94fd-98b925fc45bc 11 95564204 95564204 G T SNP CEP57 ENST00000325542 human ensembl 69_37n +1 known missense c.1287 p.K429N 0.919 NULL pfam_Cep57_MT-bd_dom - no_errors CEP57 HGNC ENSG00000166037 33 0 0.00 35 4 10.26 - - - CIC 0 genome.wustl.edu 37 19 42793200 42793200 + Silent SNP C C T TCGA-B6-A401-01A-11D-A23C-09 TCGA-B6-A401-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c4c02c3-179f-4833-850a-131a002cf99a 43e7f97e-c87c-4f11-94fd-98b925fc45bc 19 42793200 42793200 C T SNP CIC ENST00000160740 human ensembl 69_37n +1 known silent c.1092 p.D364 0.423 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors CIC HGNC ENSG00000079432 19 0 0.00 22 14 38.89 - - - CLK1 0 genome.wustl.edu 37 2 201718659 201718659 + Silent SNP G G T TCGA-B6-A401-01A-11D-A23C-09 TCGA-B6-A401-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c4c02c3-179f-4833-850a-131a002cf99a 43e7f97e-c87c-4f11-94fd-98b925fc45bc 2 201718659 201718659 G T SNP CLK1 ENST00000321356 human ensembl 69_37n -1 known silent c.1278 p.G426 0.826 pfam_Prot_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 CLK1 HGNC ENSG00000013441 40 0 0.00 40 5 11.11 - - - DCAF5 0 genome.wustl.edu 37 14 69521489 69521489 + Silent SNP G G A TCGA-B6-A401-01A-11D-A23C-09 TCGA-B6-A401-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c4c02c3-179f-4833-850a-131a002cf99a 43e7f97e-c87c-4f11-94fd-98b925fc45bc 14 69521489 69521489 G A SNP DCAF5 ENST00000341516 human ensembl 69_37n -1 known silent c.1914 p.S638 0.411 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF5 HGNC ENSG00000139990 54 0 0.00 41 7 14.58 - - - FAM21A 0 genome.wustl.edu 37 10 51853633 51853633 + Missense_Mutation SNP C C T TCGA-B6-A401-01A-11D-A23C-09 TCGA-B6-A401-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c4c02c3-179f-4833-850a-131a002cf99a 43e7f97e-c87c-4f11-94fd-98b925fc45bc 10 51853633 51853633 C T SNP FAM21A ENST00000282633 human ensembl 69_37n +1 known missense c.1136 p.T379M 0.370 NULL NULL - no_errors FAM21A HGNC ENSG00000099290 16 0 0.00 11 5 31.25 - - - FMR1 0 genome.wustl.edu 37 X 147026497 147026497 + Missense_Mutation SNP G G A TCGA-B6-A401-01A-11D-A23C-09 TCGA-B6-A401-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c4c02c3-179f-4833-850a-131a002cf99a 43e7f97e-c87c-4f11-94fd-98b925fc45bc X 147026497 147026497 G A SNP FMR1 ENST00000370475 human ensembl 69_37n +1 known missense c.1580 p.R527H 1.000 pfam_Frag_X_MRP_fam pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FMR1 HGNC ENSG00000102081 32 0 0.00 23 9 28.12 - - - GCDH 0 genome.wustl.edu 37 19 13010643 13010643 + RNA SNP G G T TCGA-B6-A401-01A-11D-A23C-09 TCGA-B6-A401-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c4c02c3-179f-4833-850a-131a002cf99a 43e7f97e-c87c-4f11-94fd-98b925fc45bc 19 13010643 13010643 G T SNP GCDH ENST00000588242 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors GCDH HGNC ENSG00000105607 30 0 0.00 20 3 13.04 - - - GUSBP1 0 genome.wustl.edu 37 5 21495250 21495250 + RNA SNP G G C TCGA-B6-A401-01A-11D-A23C-09 TCGA-B6-A401-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c4c02c3-179f-4833-850a-131a002cf99a 43e7f97e-c87c-4f11-94fd-98b925fc45bc 5 21495250 21495250 G C SNP GUSBP1 ENST00000508260 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RP11-823P9.1 Clone_based_vega_gene ENSG00000183666 37 0 0.00 38 10 20.83 - - - HTATSF1 0 genome.wustl.edu 37 X 135586549 135586549 + Missense_Mutation SNP G G A TCGA-B6-A401-01A-11D-A23C-09 TCGA-B6-A401-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c4c02c3-179f-4833-850a-131a002cf99a 43e7f97e-c87c-4f11-94fd-98b925fc45bc X 135586549 135586549 G A SNP HTATSF1 ENST00000218364 human ensembl 69_37n +1 known missense c.761 p.R254Q 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HTATSF1 HGNC ENSG00000102241 45 0 0.00 51 10 16.39 - - - IFNA21 0 genome.wustl.edu 37 9 21166406 21166406 + Missense_Mutation SNP T T G TCGA-B6-A401-01A-11D-A23C-09 TCGA-B6-A401-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c4c02c3-179f-4833-850a-131a002cf99a 43e7f97e-c87c-4f11-94fd-98b925fc45bc 9 21166406 21166406 T G SNP IFNA21 ENST00000380225 human ensembl 69_37n -1 known missense c.206 p.N69T 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA21 HGNC ENSG00000137080 188 0 0.00 92 43 31.85 - - - KCNK5 0 genome.wustl.edu 37 6 39159450 39159450 + Missense_Mutation SNP G G A TCGA-B6-A401-01A-11D-A23C-09 TCGA-B6-A401-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c4c02c3-179f-4833-850a-131a002cf99a 43e7f97e-c87c-4f11-94fd-98b925fc45bc 6 39159450 39159450 G A SNP KCNK5 ENST00000359534 human ensembl 69_37n -1 known missense c.716 p.S239F 1.000 pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TASK pfam_Ion_trans_2,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK5 HGNC ENSG00000164626 44 0 0.00 26 6 18.75 - - - MEPCE 0 genome.wustl.edu 37 7 100030663 100030663 + Frame_Shift_Del DEL G G - TCGA-B6-A401-01A-11D-A23C-09 TCGA-B6-A401-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c4c02c3-179f-4833-850a-131a002cf99a 43e7f97e-c87c-4f11-94fd-98b925fc45bc 7 100030663 100030663 G - DEL MEPCE ENST00000310512 human ensembl 69_37n +1 known frame_shift_del c.1793 p.R598fs 1.000 pfam_Bin3 pfam_Bin3 - no_errors MEPCE HGNC ENSG00000146834 44 0 0.00 39 8 16.67 - - - PAX9 0 genome.wustl.edu 37 14 37135796 37135796 + Missense_Mutation SNP A A G TCGA-B6-A401-01A-11D-A23C-09 TCGA-B6-A401-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c4c02c3-179f-4833-850a-131a002cf99a 43e7f97e-c87c-4f11-94fd-98b925fc45bc 14 37135796 37135796 A G SNP PAX9 ENST00000361487 human ensembl 69_37n +1 known missense c.761 p.K254R 1.000 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX9 HGNC ENSG00000198807 99 0 0.00 58 19 24.68 - - - PIK3CA 0 genome.wustl.edu 37 3 178921553 178921553 + Missense_Mutation SNP T T A TCGA-B6-A401-01A-11D-A23C-09 TCGA-B6-A401-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c4c02c3-179f-4833-850a-131a002cf99a 43e7f97e-c87c-4f11-94fd-98b925fc45bc 3 178921553 178921553 T A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1035 p.N345K 1.000 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 36 0 0.00 28 21 42.86 - - - R3HDM2 0 genome.wustl.edu 37 12 57674194 57674194 + Missense_Mutation SNP G G C TCGA-B6-A401-01A-11D-A23C-09 TCGA-B6-A401-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c4c02c3-179f-4833-850a-131a002cf99a 43e7f97e-c87c-4f11-94fd-98b925fc45bc 12 57674194 57674194 G C SNP R3HDM2 ENST00000347140 human ensembl 69_37n -1 known missense c.1249 p.L417V 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM2 HGNC ENSG00000179912 46 0 0.00 41 7 14.58 - - - SHROOM2 0 genome.wustl.edu 37 X 9864212 9864212 + Missense_Mutation SNP C C T TCGA-B6-A401-01A-11D-A23C-09 TCGA-B6-A401-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c4c02c3-179f-4833-850a-131a002cf99a 43e7f97e-c87c-4f11-94fd-98b925fc45bc X 9864212 9864212 C T SNP SHROOM2 ENST00000380913 human ensembl 69_37n +1 known missense c.2264 p.T755I 0.999 pfam_ASD1 pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 79 0 0.00 75 9 10.71 - - - SLITRK2 0 genome.wustl.edu 37 X 144906243 144906243 + Missense_Mutation SNP C C A TCGA-B6-A401-01A-11D-A23C-09 TCGA-B6-A401-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c4c02c3-179f-4833-850a-131a002cf99a 43e7f97e-c87c-4f11-94fd-98b925fc45bc X 144906243 144906243 C A SNP SLITRK2 ENST00000370490 human ensembl 69_37n +1 known missense c.2300 p.P767H 1.000 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC ENSG00000185985 30 0 0.00 36 13 26.53 - - - TAS2R43 0 genome.wustl.edu 37 12 11244166 11244166 + Silent SNP G G C TCGA-B6-A401-01A-11D-A23C-09 TCGA-B6-A401-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c4c02c3-179f-4833-850a-131a002cf99a 43e7f97e-c87c-4f11-94fd-98b925fc45bc 12 11244166 11244166 G C SNP TAS2R43 ENST00000531678 human ensembl 69_37n -1 known silent c.663 p.T221 0.185 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R43 HGNC ENSG00000255374 14 0 0.00 9 4 30.77 - - - TAS2R43 0 genome.wustl.edu 37 12 11244194 11244194 + Missense_Mutation SNP T T C TCGA-B6-A401-01A-11D-A23C-09 TCGA-B6-A401-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c4c02c3-179f-4833-850a-131a002cf99a 43e7f97e-c87c-4f11-94fd-98b925fc45bc 12 11244194 11244194 T C SNP TAS2R43 ENST00000531678 human ensembl 69_37n -1 known missense c.635 p.H212R 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R43 HGNC ENSG00000255374 16 0 0.00 9 4 30.77 - - - TMEM30A 0 genome.wustl.edu 37 6 75965874 75965874 + Missense_Mutation SNP G G T TCGA-B6-A401-01A-11D-A23C-09 TCGA-B6-A401-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c4c02c3-179f-4833-850a-131a002cf99a 43e7f97e-c87c-4f11-94fd-98b925fc45bc 6 75965874 75965874 G T SNP TMEM30A ENST00000230461 human ensembl 69_37n -1 known missense c.1030 p.L344I 1.000 pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk - no_errors TMEM30A HGNC ENSG00000112697 42 0 0.00 25 3 10.71 - - - TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T TCGA-B6-A401-01A-11D-A23C-09 TCGA-B6-A401-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c4c02c3-179f-4833-850a-131a002cf99a 43e7f97e-c87c-4f11-94fd-98b925fc45bc 17 7578406 7578406 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.524 p.R175H 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 36 0 0.00 16 24 60.00 - - - TPRX1 0 genome.wustl.edu 37 19 48306222 48306222 + Missense_Mutation SNP G G A TCGA-B6-A401-01A-11D-A23C-09 TCGA-B6-A401-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c4c02c3-179f-4833-850a-131a002cf99a 43e7f97e-c87c-4f11-94fd-98b925fc45bc 19 48306222 48306222 G A SNP TPRX1 ENST00000535759 human ensembl 69_37n -1 known missense c.337 p.R113C 0.665 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors TPRX1 HGNC ENSG00000178928 90 0 0.00 65 9 12.16 - - - TUBBP5 0 genome.wustl.edu 37 9 141044653 141044653 + RNA SNP C C A TCGA-B6-A401-01A-11D-A23C-09 TCGA-B6-A401-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c4c02c3-179f-4833-850a-131a002cf99a 43e7f97e-c87c-4f11-94fd-98b925fc45bc 9 141044653 141044653 C A SNP TUBBP5 ENST00000503395 human ensembl 69_37n +1 known rna NULL NULL 0.372 - - - no_errors TUBBP5 HGNC ENSG00000159247 9 0 0.00 1 2 66.67 - - - ZNRF1 0 genome.wustl.edu 37 16 75033986 75033986 + Silent SNP G G A TCGA-B6-A401-01A-11D-A23C-09 TCGA-B6-A401-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c4c02c3-179f-4833-850a-131a002cf99a 43e7f97e-c87c-4f11-94fd-98b925fc45bc 16 75033986 75033986 G A SNP ZNRF1 ENST00000320619 human ensembl 69_37n +1 known silent c.417 p.S139 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF1 HGNC ENSG00000186187 74 0 0.00 26 24 48.00 - - -