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 CBFB 0 genome.wustl.edu 37 16 67100613 67100613 + Missense_Mutation SNP A A G TCGA-BH-A0EA-01A-11D-A10Y-09 TCGA-BH-A0EA-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 561b8777-801a-49ed-a306-e7dafeb044b6 cfbd5476-e83a-401d-9f9a-639c73a0e35b 16 67100613 67100613 A G SNP CBFB ENST00000290858 human ensembl 69_37n +1 known missense c.311 p.N104S 1.000 pfam_CBF_beta,superfamily_CBF_beta pfam_CBF_beta,superfamily_CBF_beta - no_errors CBFB HGNC ENSG00000067955 692 0 0.00 206 95 31.56 - - - CD93 0 genome.wustl.edu 37 20 23066476 23066476 + Silent SNP G G A TCGA-BH-A0EA-01A-11D-A10Y-09 TCGA-BH-A0EA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 561b8777-801a-49ed-a306-e7dafeb044b6 cfbd5476-e83a-401d-9f9a-639c73a0e35b 20 23066476 23066476 G A SNP CD93 ENST00000246006 human ensembl 69_37n -1 known silent c.354 p.G118 0.557 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pirsf_CD93/CD141,pfscan_C-type_lectin pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_CD93/CD141,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CD93 HGNC ENSG00000125810 53 0 0.00 27 4 12.90 - - - CLEC4A 0 genome.wustl.edu 37 12 8290866 8290866 + Missense_Mutation SNP A A T TCGA-BH-A0EA-01A-11D-A10Y-09 TCGA-BH-A0EA-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 561b8777-801a-49ed-a306-e7dafeb044b6 cfbd5476-e83a-401d-9f9a-639c73a0e35b 12 8290866 8290866 A T SNP CLEC4A ENST00000229332 human ensembl 69_37n +1 known missense c.697 p.M233L 0.169 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4A HGNC ENSG00000111729 463 0 0.00 186 77 29.28 - - - CLEC4C 0 genome.wustl.edu 37 12 7890152 7890152 + Missense_Mutation SNP G G T TCGA-BH-A0EA-01A-11D-A10Y-09 TCGA-BH-A0EA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 561b8777-801a-49ed-a306-e7dafeb044b6 cfbd5476-e83a-401d-9f9a-639c73a0e35b 12 7890152 7890152 G T SNP CLEC4C ENST00000360345 human ensembl 69_37n -1 known missense c.254 p.T85N 0.001 superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4C HGNC ENSG00000198178 108 0 0.00 54 16 22.86 - - - COL14A1 0 genome.wustl.edu 37 8 121238949 121238949 + Missense_Mutation SNP G G A TCGA-BH-A0EA-01A-11D-A10Y-09 TCGA-BH-A0EA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 561b8777-801a-49ed-a306-e7dafeb044b6 cfbd5476-e83a-401d-9f9a-639c73a0e35b 8 121238949 121238949 G A SNP COL14A1 ENST00000297848 human ensembl 69_37n +1 known missense c.1948 p.D650N 0.968 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 314 0 0.00 135 29 17.68 - - - CXorf65 0 genome.wustl.edu 37 X 70324091 70324091 + Silent SNP C C T TCGA-BH-A0EA-01A-11D-A10Y-09 TCGA-BH-A0EA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 561b8777-801a-49ed-a306-e7dafeb044b6 cfbd5476-e83a-401d-9f9a-639c73a0e35b X 70324091 70324091 C T SNP CXorf65 ENST00000438526 human ensembl 69_37n -1 known silent c.483 p.L161 0.001 NULL NULL - no_stop_codon:bad_bp_length_for_coding_region CXorf65 HGNC ENSG00000204165 130 0 0.00 48 34 41.46 - - - EIF2AK1 0 genome.wustl.edu 37 7 6085747 6085747 + Silent SNP T T A TCGA-BH-A0EA-01A-11D-A10Y-09 TCGA-BH-A0EA-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 561b8777-801a-49ed-a306-e7dafeb044b6 cfbd5476-e83a-401d-9f9a-639c73a0e35b 7 6085747 6085747 T A SNP EIF2AK1 ENST00000199389 human ensembl 69_37n -1 known silent c.585 p.I195 0.999 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 EIF2AK1 HGNC ENSG00000086232 312 0 0.00 154 58 27.36 - - - GATA3 0 genome.wustl.edu 37 10 8111433 8111434 + Splice_Site DEL CA CA - TCGA-BH-A0EA-01A-11D-A10Y-09 TCGA-BH-A0EA-10A-01D-A110-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 561b8777-801a-49ed-a306-e7dafeb044b6 cfbd5476-e83a-401d-9f9a-639c73a0e35b 10 8111433 8111434 CA - DEL GATA3 ENST00000379328 human ensembl 69_37n +1 known splice_site_del c.925-3_925-2 e4-2 1.000:1.000 - - - no_errors GATA3 HGNC ENSG00000107485 246 0 0 107 23 17.56 - - - PDZD2 0 genome.wustl.edu 37 5 31799548 31799548 + Missense_Mutation SNP G G A TCGA-BH-A0EA-01A-11D-A10Y-09 TCGA-BH-A0EA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 561b8777-801a-49ed-a306-e7dafeb044b6 cfbd5476-e83a-401d-9f9a-639c73a0e35b 5 31799548 31799548 G A SNP PDZD2 ENST00000282493 human ensembl 69_37n +1 known missense c.193 p.E65K 0.856 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 200 0 0.00 100 25 20.00 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-BH-A0EA-01A-11D-A10Y-09 TCGA-BH-A0EA-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 561b8777-801a-49ed-a306-e7dafeb044b6 cfbd5476-e83a-401d-9f9a-639c73a0e35b 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_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 224 0 0.00 87 36 29.27 - - - PRKDC 0 genome.wustl.edu 37 8 48839867 48839867 + Missense_Mutation SNP C C T TCGA-BH-A0EA-01A-11D-A10Y-09 TCGA-BH-A0EA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 561b8777-801a-49ed-a306-e7dafeb044b6 cfbd5476-e83a-401d-9f9a-639c73a0e35b 8 48839867 48839867 C T SNP PRKDC ENST00000314191 human ensembl 69_37n -1 known missense c.2306 p.G769D 1.000 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 290 0 0.00 138 35 20.23 - - - PTPN4 0 genome.wustl.edu 37 2 120725478 120725478 + Missense_Mutation SNP A A G TCGA-BH-A0EA-01A-11D-A10Y-09 TCGA-BH-A0EA-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 561b8777-801a-49ed-a306-e7dafeb044b6 cfbd5476-e83a-401d-9f9a-639c73a0e35b 2 120725478 120725478 A G SNP PTPN4 ENST00000263708 human ensembl 69_37n +1 known missense c.2624 p.N875S 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors PTPN4 HGNC ENSG00000088179 354 0 0.00 118 23 16.31 - - - PTPRU 0 genome.wustl.edu 37 1 29630376 29630376 + Missense_Mutation SNP G G A TCGA-BH-A0EA-01A-11D-A10Y-09 TCGA-BH-A0EA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 561b8777-801a-49ed-a306-e7dafeb044b6 cfbd5476-e83a-401d-9f9a-639c73a0e35b 1 29630376 29630376 G A SNP PTPRU ENST00000345512 human ensembl 69_37n +1 known missense c.2516 p.R839H 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRU HGNC ENSG00000060656 87 0 0.00 45 19 29.69 - - - RABEP2 0 genome.wustl.edu 37 16 28935782 28935782 + Silent SNP C C T TCGA-BH-A0EA-01A-11D-A10Y-09 TCGA-BH-A0EA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 561b8777-801a-49ed-a306-e7dafeb044b6 cfbd5476-e83a-401d-9f9a-639c73a0e35b 16 28935782 28935782 C T SNP RABEP2 ENST00000358201 human ensembl 69_37n -1 known silent c.216 p.V72 1.000 pfam_Rabaptin_coiled-coil pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin - no_errors RABEP2 HGNC ENSG00000177548 63 0 0.00 27 8 22.86 - - - RTTN 0 genome.wustl.edu 37 18 67727270 67727270 + Nonsense_Mutation SNP C C A TCGA-BH-A0EA-01A-11D-A10Y-09 TCGA-BH-A0EA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 561b8777-801a-49ed-a306-e7dafeb044b6 cfbd5476-e83a-401d-9f9a-639c73a0e35b 18 67727270 67727270 C A SNP RTTN ENST00000255674 human ensembl 69_37n -1 known nonsense c.4756 p.E1586* 0.286 NULL superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 475 0 0.00 180 62 25.62 - - - SDK2 0 genome.wustl.edu 37 17 71394498 71394498 + Missense_Mutation SNP G G A TCGA-BH-A0EA-01A-11D-A10Y-09 TCGA-BH-A0EA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 561b8777-801a-49ed-a306-e7dafeb044b6 cfbd5476-e83a-401d-9f9a-639c73a0e35b 17 71394498 71394498 G A SNP SDK2 ENST00000392650 human ensembl 69_37n -1 known missense c.3164 p.S1055F 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK2 HGNC ENSG00000069188 181 0 0.00 58 29 33.33 - - - TC2N 0 genome.wustl.edu 37 14 92278710 92278710 + Missense_Mutation SNP A A G TCGA-BH-A0EA-01A-11D-A10Y-09 TCGA-BH-A0EA-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 561b8777-801a-49ed-a306-e7dafeb044b6 cfbd5476-e83a-401d-9f9a-639c73a0e35b 14 92278710 92278710 A G SNP TC2N ENST00000340892 human ensembl 69_37n -1 known missense c.247 p.S83P 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors TC2N HGNC ENSG00000165929 451 0 0.00 178 44 19.82 - - - TSHZ3 0 genome.wustl.edu 37 19 31767562 31767562 + Missense_Mutation SNP C C T TCGA-BH-A0EA-01A-11D-A10Y-09 TCGA-BH-A0EA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 561b8777-801a-49ed-a306-e7dafeb044b6 cfbd5476-e83a-401d-9f9a-639c73a0e35b 19 31767562 31767562 C T SNP TSHZ3 ENST00000240587 human ensembl 69_37n -1 known missense c.3137 p.C1046Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 526 0 0.00 273 69 20.18 - - - TXNDC15 0 genome.wustl.edu 37 5 134210139 134210139 + Nonsense_Mutation SNP C C T TCGA-BH-A0EA-01A-11D-A10Y-09 TCGA-BH-A0EA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 561b8777-801a-49ed-a306-e7dafeb044b6 cfbd5476-e83a-401d-9f9a-639c73a0e35b 5 134210139 134210139 C T SNP TXNDC15 ENST00000358387 human ensembl 69_37n +1 known nonsense c.22 p.R8* 0.001 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC15 HGNC ENSG00000113621 104 0 0.00 64 14 17.95 - - - XPO5 0 genome.wustl.edu 37 6 43538686 43538686 + Missense_Mutation SNP G G C TCGA-BH-A0EA-01A-11D-A10Y-09 TCGA-BH-A0EA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 561b8777-801a-49ed-a306-e7dafeb044b6 cfbd5476-e83a-401d-9f9a-639c73a0e35b 6 43538686 43538686 G C SNP XPO5 ENST00000265351 human ensembl 69_37n -1 known missense c.346 p.L116V 0.508 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPO5 HGNC ENSG00000124571 315 0 0.00 126 23 15.44 - - - ZNF425 0 genome.wustl.edu 37 7 148801590 148801590 + Missense_Mutation SNP C C T TCGA-BH-A0EA-01A-11D-A10Y-09 TCGA-BH-A0EA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 561b8777-801a-49ed-a306-e7dafeb044b6 cfbd5476-e83a-401d-9f9a-639c73a0e35b 7 148801590 148801590 C T SNP ZNF425 ENST00000378061 human ensembl 69_37n -1 known missense c.1373 p.R458H 0.000 smart_Znf_C2H2-like,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,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ENSG00000204947 29 0 0.00 14 12 46.15 - - -