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 AMELX 0 genome.wustl.edu 37 X 11316986 11316986 + Nonsense_Mutation SNP C C T TCGA-BH-A0C3-01A-21D-A12Q-09 TCGA-BH-A0C3-11A-23D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec57ee0f-949e-4eee-91c2-dd129d657065 128e802b-64d9-42d9-8a22-59c8ce061eb4 X 11316986 11316986 C T SNP AMELX ENST00000380712 human ensembl 69_37n +1 known nonsense c.505 p.Q169* 1.000 pfam_Amelogenin,smart_Amelogenin pfam_Amelogenin,smart_Amelogenin,prints_Amelogenin - no_errors AMELX HGNC ENSG00000125363 137 0 0.00 171 43 20.09 - - - EPG5 0 genome.wustl.edu 37 18 43534880 43534880 + Missense_Mutation SNP G G A TCGA-BH-A0C3-01A-21D-A12Q-09 TCGA-BH-A0C3-11A-23D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec57ee0f-949e-4eee-91c2-dd129d657065 128e802b-64d9-42d9-8a22-59c8ce061eb4 18 43534880 43534880 G A SNP EPG5 ENST00000282041 human ensembl 69_37n -1 known missense c.488 p.T163I 0.011 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 168 0 0.00 168 39 18.84 - - - GOLGA8A 0 genome.wustl.edu 37 15 34677517 34677517 + Missense_Mutation SNP G G A TCGA-BH-A0C3-01A-21D-A12Q-09 TCGA-BH-A0C3-11A-23D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec57ee0f-949e-4eee-91c2-dd129d657065 128e802b-64d9-42d9-8a22-59c8ce061eb4 15 34677517 34677517 G A SNP GOLGA8A ENST00000432566 human ensembl 69_37n -1 known missense c.485 p.T162I 0.001 NULL NULL - no_errors GOLGA8A HGNC ENSG00000175265 8 0 0.00 5 4 44.44 - - - HNRNPR 0 genome.wustl.edu 37 1 23650213 23650213 + Missense_Mutation SNP T T G TCGA-BH-A0C3-01A-21D-A12Q-09 TCGA-BH-A0C3-11A-23D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec57ee0f-949e-4eee-91c2-dd129d657065 128e802b-64d9-42d9-8a22-59c8ce061eb4 1 23650213 23650213 T G SNP HNRNPR ENST00000374616 human ensembl 69_37n -1 known missense c.511 p.K171Q 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors HNRNPR HGNC ENSG00000125944 165 0 0.00 145 28 16.18 - - - IGF1R 0 genome.wustl.edu 37 15 99456511 99456511 + Missense_Mutation SNP G G A TCGA-BH-A0C3-01A-21D-A12Q-09 TCGA-BH-A0C3-11A-23D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec57ee0f-949e-4eee-91c2-dd129d657065 128e802b-64d9-42d9-8a22-59c8ce061eb4 15 99456511 99456511 G A SNP IGF1R ENST00000268035 human ensembl 69_37n +1 known missense c.1828 p.V610I 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors IGF1R HGNC ENSG00000140443 36 0 0.00 47 9 16.07 - - - ITPR1 0 genome.wustl.edu 37 3 4856841 4856841 + Silent SNP T T C TCGA-BH-A0C3-01A-21D-A12Q-09 TCGA-BH-A0C3-11A-23D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec57ee0f-949e-4eee-91c2-dd129d657065 128e802b-64d9-42d9-8a22-59c8ce061eb4 3 4856841 4856841 T C SNP ITPR1 ENST00000302640 human ensembl 69_37n +1 known silent c.7761 p.A2587 0.047 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 307 0 0.00 282 70 19.89 - - - KIRREL 0 genome.wustl.edu 37 1 158059318 158059318 + Silent SNP G G T TCGA-BH-A0C3-01A-21D-A12Q-09 TCGA-BH-A0C3-11A-23D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec57ee0f-949e-4eee-91c2-dd129d657065 128e802b-64d9-42d9-8a22-59c8ce061eb4 1 158059318 158059318 G T SNP KIRREL ENST00000368173 human ensembl 69_37n +1 known silent c.1119 p.L373 0.993 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors KIRREL HGNC ENSG00000183853 25 0 0.00 45 13 22.41 - - - NHS 0 genome.wustl.edu 37 X 17745442 17745443 + Frame_Shift_Del DEL TA TA - TCGA-BH-A0C3-01A-21D-A12Q-09 TCGA-BH-A0C3-11A-23D-A12Q-09 TA TA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec57ee0f-949e-4eee-91c2-dd129d657065 128e802b-64d9-42d9-8a22-59c8ce061eb4 X 17745442 17745443 TA - DEL NHS ENST00000380060 human ensembl 69_37n +1 known frame_shift_del c.3153_3154 p.S1053fs 0.007:0.000 NULL NULL - no_errors NHS HGNC ENSG00000188158 324 0 0.00 378 75 16.52 - - - POLI 0 genome.wustl.edu 37 18 51795960 51795960 + Missense_Mutation SNP A A G TCGA-BH-A0C3-01A-21D-A12Q-09 TCGA-BH-A0C3-11A-23D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec57ee0f-949e-4eee-91c2-dd129d657065 128e802b-64d9-42d9-8a22-59c8ce061eb4 18 51795960 51795960 A G SNP POLI ENST00000579534 human ensembl 69_37n +1 known missense c.44 p.D15G 0.000 NULL pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLI HGNC ENSG00000101751 9 0 0.00 10 5 33.33 - - - RPS6KA2 0 genome.wustl.edu 37 6 166912078 166912078 + Missense_Mutation SNP G G A TCGA-BH-A0C3-01A-21D-A12Q-09 TCGA-BH-A0C3-11A-23D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec57ee0f-949e-4eee-91c2-dd129d657065 128e802b-64d9-42d9-8a22-59c8ce061eb4 6 166912078 166912078 G A SNP RPS6KA2 ENST00000510118 human ensembl 69_37n -1 known missense c.740 p.T247M 1.000 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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors RPS6KA2 HGNC ENSG00000071242 45 0 0.00 48 17 26.15 - - - RUNX1 0 genome.wustl.edu 37 21 36231791 36231791 + Missense_Mutation SNP T T C TCGA-BH-A0C3-01A-21D-A12Q-09 TCGA-BH-A0C3-11A-23D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec57ee0f-949e-4eee-91c2-dd129d657065 128e802b-64d9-42d9-8a22-59c8ce061eb4 21 36231791 36231791 T C SNP RUNX1 ENST00000300305 human ensembl 69_37n -1 known missense c.593 p.D198G 1.000 pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt - no_errors RUNX1 HGNC ENSG00000159216 434 1 0.23 485 116 19.27 - - - TNFRSF10C 0 genome.wustl.edu 37 8 22973124 22973124 + Silent SNP T T C TCGA-BH-A0C3-01A-21D-A12Q-09 TCGA-BH-A0C3-11A-23D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec57ee0f-949e-4eee-91c2-dd129d657065 128e802b-64d9-42d9-8a22-59c8ce061eb4 8 22973124 22973124 T C SNP TNFRSF10C ENST00000356864 human ensembl 69_37n +1 known silent c.384 p.C128 0.000 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_10,pfscan_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_10,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF10C HGNC ENSG00000173535 71 0 0.00 106 20 15.87 - - - TP53 0 genome.wustl.edu 37 17 7578371 7578371 + Missense_Mutation SNP C C T TCGA-BH-A0C3-01A-21D-A12Q-09 TCGA-BH-A0C3-11A-23D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec57ee0f-949e-4eee-91c2-dd129d657065 128e802b-64d9-42d9-8a22-59c8ce061eb4 17 7578371 7578371 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.559 p.G187S 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 63 0 0.00 57 18 24.00 - - - UCK2 0 genome.wustl.edu 37 1 165872480 165872480 + Silent SNP G G C TCGA-BH-A0C3-01A-21D-A12Q-09 TCGA-BH-A0C3-11A-23D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec57ee0f-949e-4eee-91c2-dd129d657065 128e802b-64d9-42d9-8a22-59c8ce061eb4 1 165872480 165872480 G C SNP UCK2 ENST00000367879 human ensembl 69_37n +1 known silent c.561 p.T187 0.000 pfam_PRK/URK,tigrfam_Uridine_kinase pfam_PRK/URK,pfam_Depp_CoAkinase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCK2 HGNC ENSG00000143179 389 1 0.26 565 121 17.64 - - - ZNF462 0 genome.wustl.edu 37 9 109771874 109771874 + Missense_Mutation SNP G G A TCGA-BH-A0C3-01A-21D-A12Q-09 TCGA-BH-A0C3-11A-23D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec57ee0f-949e-4eee-91c2-dd129d657065 128e802b-64d9-42d9-8a22-59c8ce061eb4 9 109771874 109771874 G A SNP ZNF462 ENST00000457913 human ensembl 69_37n +1 known missense c.7418 p.R2473H 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 289 0 0.00 254 70 21.60 - - -