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 ALDH5A1 0 genome.wustl.edu 37 6 24528350 24528350 + Silent SNP G G C TCGA-EW-A1J1-01A-11D-A188-09 TCGA-EW-A1J1-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4b8d51b3-8393-45d4-a73d-3c22c561d6f3 5f2693b0-9790-4841-91e4-aecc5cdccfec 6 24528350 24528350 G C SNP ALDH5A1 ENST00000348925 human ensembl 69_37n +1 known silent c.1338 p.L446 0.497 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH - no_errors ALDH5A1 HGNC ENSG00000112294 48 0 0.00 26 11 29.73 - - - ATP2A2 0 genome.wustl.edu 37 12 110780236 110780236 + Missense_Mutation SNP C C T TCGA-EW-A1J1-01A-11D-A188-09 TCGA-EW-A1J1-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4b8d51b3-8393-45d4-a73d-3c22c561d6f3 5f2693b0-9790-4841-91e4-aecc5cdccfec 12 110780236 110780236 C T SNP ATP2A2 ENST00000548169 human ensembl 69_37n +1 novel missense c.1972 p.R658C 0.974 tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ATP2A2 HGNC ENSG00000174437 76 0 0.00 94 68 41.98 - - - CLEC16A 0 genome.wustl.edu 37 16 11071088 11071088 + Silent SNP G G T TCGA-EW-A1J1-01A-11D-A188-09 TCGA-EW-A1J1-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4b8d51b3-8393-45d4-a73d-3c22c561d6f3 5f2693b0-9790-4841-91e4-aecc5cdccfec 16 11071088 11071088 G T SNP CLEC16A ENST00000409790 human ensembl 69_37n +1 known silent c.735 p.R245 0.998 NULL pfam_Uncharacterised_FPL - no_errors CLEC16A HGNC ENSG00000038532 70 0 0.00 64 53 45.30 - - - DPT 0 genome.wustl.edu 37 1 168683522 168683522 + Missense_Mutation SNP A A T TCGA-EW-A1J1-01A-11D-A188-09 TCGA-EW-A1J1-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4b8d51b3-8393-45d4-a73d-3c22c561d6f3 5f2693b0-9790-4841-91e4-aecc5cdccfec 1 168683522 168683522 A T SNP DPT ENST00000367817 human ensembl 69_37n -1 known missense c.368 p.V123E 1.000 NULL NULL - no_errors DPT HGNC ENSG00000143196 54 0 0.00 58 12 16.90 - - - EHD1 0 genome.wustl.edu 37 11 64645813 64645813 + Missense_Mutation SNP A A C TCGA-EW-A1J1-01A-11D-A188-09 TCGA-EW-A1J1-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4b8d51b3-8393-45d4-a73d-3c22c561d6f3 5f2693b0-9790-4841-91e4-aecc5cdccfec 11 64645813 64645813 A C SNP EHD1 ENST00000320631 human ensembl 69_37n -1 known missense c.124 p.F42V 1.000 NULL pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD1 HGNC ENSG00000110047 26 0 0.00 92 18 16.22 - - - ELFN2 0 genome.wustl.edu 37 22 37770887 37770887 + Missense_Mutation SNP G G A TCGA-EW-A1J1-01A-11D-A188-09 TCGA-EW-A1J1-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4b8d51b3-8393-45d4-a73d-3c22c561d6f3 5f2693b0-9790-4841-91e4-aecc5cdccfec 22 37770887 37770887 G A SNP ELFN2 ENST00000349653 human ensembl 69_37n -1 known missense c.688 p.R230W 0.296 NULL superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG-motif_cell_wall_anchor - no_errors ELFN2 HGNC ENSG00000166897 27 0 0.00 22 8 26.67 - - - EPG5 0 genome.wustl.edu 37 18 43484051 43484051 + Missense_Mutation SNP C C T TCGA-EW-A1J1-01A-11D-A188-09 TCGA-EW-A1J1-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4b8d51b3-8393-45d4-a73d-3c22c561d6f3 5f2693b0-9790-4841-91e4-aecc5cdccfec 18 43484051 43484051 C T SNP EPG5 ENST00000282041 human ensembl 69_37n -1 known missense c.4361 p.R1454H 1.000 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 80 0 0.00 48 17 26.15 - - - FGF18 0 genome.wustl.edu 37 5 170883561 170883561 + Missense_Mutation SNP G G C TCGA-EW-A1J1-01A-11D-A188-09 TCGA-EW-A1J1-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4b8d51b3-8393-45d4-a73d-3c22c561d6f3 5f2693b0-9790-4841-91e4-aecc5cdccfec 5 170883561 170883561 G C SNP FGF18 ENST00000274625 human ensembl 69_37n +1 known missense c.376 p.E126Q 1.000 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF - no_errors FGF18 HGNC ENSG00000156427 13 0 0.00 36 7 16.28 - - - MAP3K1 0 genome.wustl.edu 37 5 56177010 56177011 + Frame_Shift_Ins INS - - ATAG TCGA-EW-A1J1-01A-11D-A188-09 TCGA-EW-A1J1-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4b8d51b3-8393-45d4-a73d-3c22c561d6f3 5f2693b0-9790-4841-91e4-aecc5cdccfec 5 56177010 56177011 - ATAG INS MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_ins c.2280_2281 p.L763fs 0.954:0.994 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 203 0 0.00 63 80 55.94 - - - MYCBPAP 0 genome.wustl.edu 37 17 48594830 48594830 + Missense_Mutation SNP C C A TCGA-EW-A1J1-01A-11D-A188-09 TCGA-EW-A1J1-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4b8d51b3-8393-45d4-a73d-3c22c561d6f3 5f2693b0-9790-4841-91e4-aecc5cdccfec 17 48594830 48594830 C A SNP MYCBPAP ENST00000452039 human ensembl 69_37n +1 novel missense c.510 p.S170R 0.000 NULL NULL - no_stop_codon MYCBPAP HGNC ENSG00000136449 63 0 0.00 46 36 43.90 - - - NAV1 0 genome.wustl.edu 37 1 201757631 201757631 + Missense_Mutation SNP C C T TCGA-EW-A1J1-01A-11D-A188-09 TCGA-EW-A1J1-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4b8d51b3-8393-45d4-a73d-3c22c561d6f3 5f2693b0-9790-4841-91e4-aecc5cdccfec 1 201757631 201757631 C T SNP NAV1 ENST00000367296 human ensembl 69_37n +1 known missense c.3031 p.R1011C 1.000 NULL smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 47 0 0.00 98 24 19.67 - - - NIPAL4 0 genome.wustl.edu 37 5 156899736 156899736 + Missense_Mutation SNP C C T TCGA-EW-A1J1-01A-11D-A188-09 TCGA-EW-A1J1-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4b8d51b3-8393-45d4-a73d-3c22c561d6f3 5f2693b0-9790-4841-91e4-aecc5cdccfec 5 156899736 156899736 C T SNP NIPAL4 ENST00000311946 human ensembl 69_37n +1 known missense c.1169 p.T390I 1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPAL4 HGNC ENSG00000172548 56 0 0.00 74 27 26.73 - - - PIK3CA 0 genome.wustl.edu 37 3 178952075 178952075 + Missense_Mutation SNP A A T TCGA-EW-A1J1-01A-11D-A188-09 TCGA-EW-A1J1-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4b8d51b3-8393-45d4-a73d-3c22c561d6f3 5f2693b0-9790-4841-91e4-aecc5cdccfec 3 178952075 178952075 A T SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3130 p.N1044Y 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 63 0 0.00 65 33 33.67 - - - POLA1 0 genome.wustl.edu 37 X 24722586 24722586 + Nonsense_Mutation SNP G G T TCGA-EW-A1J1-01A-11D-A188-09 TCGA-EW-A1J1-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4b8d51b3-8393-45d4-a73d-3c22c561d6f3 5f2693b0-9790-4841-91e4-aecc5cdccfec X 24722586 24722586 G T SNP POLA1 ENST00000379068 human ensembl 69_37n +1 known nonsense c.346 p.G116* 1.000 tigrfam_DNA-dir_DNA_pol_B_pol2 pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLA1 HGNC ENSG00000101868 229 0 0.00 248 67 21.27 - - - RYR3 0 genome.wustl.edu 37 15 33954810 33954810 + Silent SNP G G A TCGA-EW-A1J1-01A-11D-A188-09 TCGA-EW-A1J1-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4b8d51b3-8393-45d4-a73d-3c22c561d6f3 5f2693b0-9790-4841-91e4-aecc5cdccfec 15 33954810 33954810 G A SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known silent c.5079 p.T1693 0.223 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 78 0 0.00 52 43 45.26 - - - SF1 0 genome.wustl.edu 37 11 64535092 64535092 + Silent SNP C C T TCGA-EW-A1J1-01A-11D-A188-09 TCGA-EW-A1J1-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4b8d51b3-8393-45d4-a73d-3c22c561d6f3 5f2693b0-9790-4841-91e4-aecc5cdccfec 11 64535092 64535092 C T SNP SF1 ENST00000377390 human ensembl 69_37n -1 known silent c.1293 p.P431 1.000 NULL pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1 - no_errors SF1 HGNC ENSG00000168066 29 0 0.00 65 9 12.16 - - - SNRNP200 0 genome.wustl.edu 37 2 96959238 96959238 + Missense_Mutation SNP G G T TCGA-EW-A1J1-01A-11D-A188-09 TCGA-EW-A1J1-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4b8d51b3-8393-45d4-a73d-3c22c561d6f3 5f2693b0-9790-4841-91e4-aecc5cdccfec 2 96959238 96959238 G T SNP SNRNP200 ENST00000323853 human ensembl 69_37n -1 known missense c.1852 p.H618N 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 44 0 0.00 35 4 10.26 - - - SOS1 0 genome.wustl.edu 37 2 39239446 39239446 + Silent SNP G G A TCGA-EW-A1J1-01A-11D-A188-09 TCGA-EW-A1J1-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4b8d51b3-8393-45d4-a73d-3c22c561d6f3 5f2693b0-9790-4841-91e4-aecc5cdccfec 2 39239446 39239446 G A SNP SOS1 ENST00000402219 human ensembl 69_37n -1 known silent c.2211 p.I737 1.000 superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS1 HGNC ENSG00000115904 158 0 0.00 173 34 16.43 - - - TBP 0 genome.wustl.edu 37 6 170871052 170871052 + Silent SNP G G A TCGA-EW-A1J1-01A-11D-A188-09 TCGA-EW-A1J1-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4b8d51b3-8393-45d4-a73d-3c22c561d6f3 5f2693b0-9790-4841-91e4-aecc5cdccfec 6 170871052 170871052 G A SNP TBP ENST00000230354 human ensembl 69_37n +1 known silent c.228 p.Q76 0.994 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 16 0 0.00 55 15 21.43 - - - TREM1 0 genome.wustl.edu 37 6 41250151 41250151 + Missense_Mutation SNP G G T TCGA-EW-A1J1-01A-11D-A188-09 TCGA-EW-A1J1-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4b8d51b3-8393-45d4-a73d-3c22c561d6f3 5f2693b0-9790-4841-91e4-aecc5cdccfec 6 41250151 41250151 G T SNP TREM1 ENST00000244709 human ensembl 69_37n -1 known missense c.388 p.R130S 0.058 smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub - no_errors TREM1 HGNC ENSG00000124731 40 0 0.00 42 15 26.32 - - - UHRF1BP1L 0 genome.wustl.edu 37 12 100452034 100452034 + Silent SNP T T A TCGA-EW-A1J1-01A-11D-A188-09 TCGA-EW-A1J1-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4b8d51b3-8393-45d4-a73d-3c22c561d6f3 5f2693b0-9790-4841-91e4-aecc5cdccfec 12 100452034 100452034 T A SNP UHRF1BP1L ENST00000279907 human ensembl 69_37n -1 known silent c.3021 p.S1007 0.297 NULL NULL - no_errors UHRF1BP1L HGNC ENSG00000111647 55 0 0.00 53 12 18.46 - - - UNC80 0 genome.wustl.edu 37 2 210681761 210681761 + Silent SNP G G A TCGA-EW-A1J1-01A-11D-A188-09 TCGA-EW-A1J1-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4b8d51b3-8393-45d4-a73d-3c22c561d6f3 5f2693b0-9790-4841-91e4-aecc5cdccfec 2 210681761 210681761 G A SNP UNC80 ENST00000439458 human ensembl 69_37n +1 known silent c.1464 p.T488 0.173 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 38 0 0.00 55 21 27.27 - - -