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 BACH1 0 genome.wustl.edu 37 21 30699316 30699316 + Nonsense_Mutation SNP C C T TCGA-BH-A0HO-01A-11W-A050-09 TCGA-BH-A0HO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 354172e7-3e54-4ec4-88fa-fd7781cc86ae 32f59f61-3335-4cfe-93f3-5931705e312e 21 30699316 30699316 C T SNP BACH1 ENST00000286800 human ensembl 69_37n +1 known nonsense c.1171 p.R391* 0.901 NULL pfam_BTB_POZ,pfam_bZIP_1,pfam_bZIP_2,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH1 HGNC ENSG00000156273 94 0 0.00 140 87 38.16 - - - CHST11 0 genome.wustl.edu 37 12 105150939 105150939 + Silent SNP C C T TCGA-BH-A0HO-01A-11W-A050-09 TCGA-BH-A0HO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 354172e7-3e54-4ec4-88fa-fd7781cc86ae 32f59f61-3335-4cfe-93f3-5931705e312e 12 105150939 105150939 C T SNP CHST11 ENST00000303694 human ensembl 69_37n +1 known silent c.417 p.T139 0.051 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST11 HGNC ENSG00000171310 78 0 0.00 72 23 24.21 - - - DLL1 0 genome.wustl.edu 37 6 170594673 170594674 + Frame_Shift_Ins INS - - C TCGA-BH-A0HO-01A-11W-A050-09 TCGA-BH-A0HO-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 354172e7-3e54-4ec4-88fa-fd7781cc86ae 32f59f61-3335-4cfe-93f3-5931705e312e 6 170594673 170594674 - C INS DLL1 ENST00000366756 human ensembl 69_37n -1 known frame_shift_ins c.846_845 p.L283fs 0.973:1.000 smart_EGF-like pfam_EGF-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_DSL,pfscan_EG-like_dom - no_errors DLL1 HGNC ENSG00000198719 31 0 0.00 54 7 11.48 - - - DOCK2 0 genome.wustl.edu 37 5 169127104 169127104 + Missense_Mutation SNP G G A TCGA-BH-A0HO-01A-11W-A050-09 TCGA-BH-A0HO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 354172e7-3e54-4ec4-88fa-fd7781cc86ae 32f59f61-3335-4cfe-93f3-5931705e312e 5 169127104 169127104 G A SNP DOCK2 ENST00000256935 human ensembl 69_37n +1 known missense c.1219 p.V407M 1.000 NULL pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RR-like,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 116 0 0.00 83 47 35.88 - - - EFS 0 genome.wustl.edu 37 14 23829996 23829997 + Frame_Shift_Ins INS - - G TCGA-BH-A0HO-01A-11W-A050-09 TCGA-BH-A0HO-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 354172e7-3e54-4ec4-88fa-fd7781cc86ae 32f59f61-3335-4cfe-93f3-5931705e312e 14 23829996 23829997 - G INS EFS ENST00000216733 human ensembl 69_37n -1 known frame_shift_ins c.65_64 p.Q22fs 1.000:1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors EFS HGNC ENSG00000100842 20 0 0.00 21 3 12.50 - - - ENTHD1 0 genome.wustl.edu 37 22 40161426 40161426 + Nonsense_Mutation SNP C C A TCGA-BH-A0HO-01A-11W-A050-09 TCGA-BH-A0HO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 354172e7-3e54-4ec4-88fa-fd7781cc86ae 32f59f61-3335-4cfe-93f3-5931705e312e 22 40161426 40161426 C A SNP ENTHD1 ENST00000325157 human ensembl 69_37n -1 known nonsense c.1021 p.E341* 0.990 NULL pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors ENTHD1 HGNC ENSG00000176177 154 0 0.00 136 54 28.42 - - - FCGBP 0 genome.wustl.edu 37 19 40408747 40408747 + Silent SNP C C T TCGA-BH-A0HO-01A-11W-A050-09 TCGA-BH-A0HO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 354172e7-3e54-4ec4-88fa-fd7781cc86ae 32f59f61-3335-4cfe-93f3-5931705e312e 19 40408747 40408747 C T SNP FCGBP ENST00000221347 human ensembl 69_37n -1 known silent c.4092 p.L1364 0.827 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 60 0 0.00 84 49 36.84 - - - FNDC3B 0 genome.wustl.edu 37 3 171851264 171851264 + Missense_Mutation SNP A A G TCGA-BH-A0HO-01A-11W-A050-09 TCGA-BH-A0HO-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 354172e7-3e54-4ec4-88fa-fd7781cc86ae 32f59f61-3335-4cfe-93f3-5931705e312e 3 171851264 171851264 A G SNP FNDC3B ENST00000336824 human ensembl 69_37n +1 known missense c.115 p.I39V 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3B HGNC ENSG00000075420 347 0 0.00 245 90 26.87 - - - FOXD3 0 genome.wustl.edu 37 1 63789206 63789206 + Silent SNP G G A TCGA-BH-A0HO-01A-11W-A050-09 TCGA-BH-A0HO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 354172e7-3e54-4ec4-88fa-fd7781cc86ae 32f59f61-3335-4cfe-93f3-5931705e312e 1 63789206 63789206 G A SNP FOXD3 ENST00000371116 human ensembl 69_37n +1 known silent c.477 p.Q159 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD3 HGNC ENSG00000187140 29 0 0.00 19 16 45.71 - - - KCNJ12 0 genome.wustl.edu 37 17 21319230 21319230 + Missense_Mutation SNP G G C TCGA-BH-A0HO-01A-11W-A050-09 TCGA-BH-A0HO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 354172e7-3e54-4ec4-88fa-fd7781cc86ae 32f59f61-3335-4cfe-93f3-5931705e312e 17 21319230 21319230 G C SNP KCNJ12 ENST00000331718 human ensembl 69_37n +1 known missense c.576 p.Q192H 1.000 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir_Cr2,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 13 0 0.00 20 17 45.95 - - - KPRP 0 genome.wustl.edu 37 1 152732639 152732639 + Missense_Mutation SNP G G A TCGA-BH-A0HO-01A-11W-A050-09 TCGA-BH-A0HO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 354172e7-3e54-4ec4-88fa-fd7781cc86ae 32f59f61-3335-4cfe-93f3-5931705e312e 1 152732639 152732639 G A SNP KPRP ENST00000368773 human ensembl 69_37n +1 known missense c.575 p.G192D 0.000 NULL NULL - no_errors KPRP HGNC ENSG00000203786 168 0 0.00 307 81 20.61 - - - LINGO1 0 genome.wustl.edu 37 15 77907821 77907821 + Missense_Mutation SNP C C T TCGA-BH-A0HO-01A-11W-A050-09 TCGA-BH-A0HO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 354172e7-3e54-4ec4-88fa-fd7781cc86ae 32f59f61-3335-4cfe-93f3-5931705e312e 15 77907821 77907821 C T SNP LINGO1 ENST00000355300 human ensembl 69_37n -1 known missense c.428 p.S143N 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LINGO1 HGNC ENSG00000169783 53 0 0.00 83 42 33.60 - - - NDN 0 genome.wustl.edu 37 15 23931940 23931940 + Missense_Mutation SNP C C T TCGA-BH-A0HO-01A-11W-A050-09 TCGA-BH-A0HO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 354172e7-3e54-4ec4-88fa-fd7781cc86ae 32f59f61-3335-4cfe-93f3-5931705e312e 15 23931940 23931940 C T SNP NDN ENST00000331837 human ensembl 69_37n -1 known missense c.425 p.R142H 0.982 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors NDN HGNC ENSG00000182636 19 0 0.00 8 9 52.94 - - - PHOX2B 0 genome.wustl.edu 37 4 41750604 41750605 + Frame_Shift_Ins INS - - A TCGA-BH-A0HO-01A-11W-A050-09 TCGA-BH-A0HO-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 354172e7-3e54-4ec4-88fa-fd7781cc86ae 32f59f61-3335-4cfe-93f3-5931705e312e 4 41750604 41750605 - A INS PHOX2B ENST00000226382 human ensembl 69_37n -1 known frame_shift_ins c.24_23 p.L9fs 1.000:1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Antifreeze_1 - no_errors PHOX2B HGNC ENSG00000109132 28 0 0.00 85 17 16.67 - - - PLCH1 0 genome.wustl.edu 37 3 155199887 155199888 + Frame_Shift_Del DEL TT TT - TCGA-BH-A0HO-01A-11W-A050-09 TCGA-BH-A0HO-10A-01W-A055-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 354172e7-3e54-4ec4-88fa-fd7781cc86ae 32f59f61-3335-4cfe-93f3-5931705e312e 3 155199887 155199888 TT - DEL PLCH1 ENST00000340059 human ensembl 69_37n -1 known frame_shift_del c.3952_3951 p.P1319fs 0.587:0.585 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 39 0 0.00 42 15 25.86 - - - PLEC 0 genome.wustl.edu 37 8 145001190 145001190 + Silent SNP G G A TCGA-BH-A0HO-01A-11W-A050-09 TCGA-BH-A0HO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 354172e7-3e54-4ec4-88fa-fd7781cc86ae 32f59f61-3335-4cfe-93f3-5931705e312e 8 145001190 145001190 G A SNP PLEC ENST00000322810 human ensembl 69_37n -1 known silent c.4311 p.A1437 0.996 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 19 0 0.00 18 5 21.74 - - - POLR2J4 0 genome.wustl.edu 37 7 44056086 44056086 + RNA SNP G G A TCGA-BH-A0HO-01A-11W-A050-09 TCGA-BH-A0HO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 354172e7-3e54-4ec4-88fa-fd7781cc86ae 32f59f61-3335-4cfe-93f3-5931705e312e 7 44056086 44056086 G A SNP POLR2J4 ENST00000326391 human ensembl 69_37n -1 known rna NULL NULL 0.997 - - - no_errors POLR2J4 HGNC ENSG00000214783 364 0 0.00 355 95 21.06 - - - PRAMEF7 0 genome.wustl.edu 37 1 12980232 12980232 + Silent SNP G G A TCGA-BH-A0HO-01A-11W-A050-09 TCGA-BH-A0HO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 354172e7-3e54-4ec4-88fa-fd7781cc86ae 32f59f61-3335-4cfe-93f3-5931705e312e 1 12980232 12980232 G A SNP PRAMEF7 ENST00000330881 human ensembl 69_37n +1 known silent c.1424 p.*475 0.000 NULL NULL - no_errors PRAMEF7 HGNC ENSG00000204510 32 0 0.00 64 9 12.33 - - - RAI14 0 genome.wustl.edu 37 5 34812309 34812309 + Missense_Mutation SNP A A C TCGA-BH-A0HO-01A-11W-A050-09 TCGA-BH-A0HO-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 354172e7-3e54-4ec4-88fa-fd7781cc86ae 32f59f61-3335-4cfe-93f3-5931705e312e 5 34812309 34812309 A C SNP RAI14 ENST00000515799 human ensembl 69_37n +1 known missense c.770 p.K257T 1.000 NULL pfam_Ankyrin_rpt,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors RAI14 HGNC ENSG00000039560 399 0 0.00 270 130 32.50 - - - SMCHD1 0 genome.wustl.edu 37 18 2747542 2747542 + Missense_Mutation SNP G G T TCGA-BH-A0HO-01A-11W-A050-09 TCGA-BH-A0HO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 354172e7-3e54-4ec4-88fa-fd7781cc86ae 32f59f61-3335-4cfe-93f3-5931705e312e 18 2747542 2747542 G T SNP SMCHD1 ENST00000320876 human ensembl 69_37n +1 known missense c.3824 p.R1275I 1.000 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 147 0 0.00 81 28 25.69 - - - TMC4 0 genome.wustl.edu 37 19 54676772 54676772 + Missense_Mutation SNP G G A TCGA-BH-A0HO-01A-11W-A050-09 TCGA-BH-A0HO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 354172e7-3e54-4ec4-88fa-fd7781cc86ae 32f59f61-3335-4cfe-93f3-5931705e312e 19 54676772 54676772 G A SNP TMC4 ENST00000301187 human ensembl 69_37n -1 known missense c.41 p.S14F 0.291 NULL pfam_TMC - no_errors TMC4 HGNC ENSG00000167608 46 0 0.00 63 19 23.17 - - - ZAN 0 genome.wustl.edu 37 7 100390155 100390155 + Missense_Mutation SNP G G C TCGA-BH-A0HO-01A-11W-A050-09 TCGA-BH-A0HO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 354172e7-3e54-4ec4-88fa-fd7781cc86ae 32f59f61-3335-4cfe-93f3-5931705e312e 7 100390155 100390155 G C SNP ZAN ENST00000546292 human ensembl 69_37n +1 known missense c.7838 p.R2613P 0.995 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 10 0 0.00 17 9 34.62 - - - ZBTB43 0 genome.wustl.edu 37 9 129595094 129595094 + Silent SNP T T C TCGA-BH-A0HO-01A-11W-A050-09 TCGA-BH-A0HO-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 354172e7-3e54-4ec4-88fa-fd7781cc86ae 32f59f61-3335-4cfe-93f3-5931705e312e 9 129595094 129595094 T C SNP ZBTB43 ENST00000373457 human ensembl 69_37n +1 known silent c.306 p.S102 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB43 HGNC ENSG00000169155 41 0 0.00 78 41 34.45 - - -