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 APTX 0 genome.wustl.edu 37 9 33001567 33001567 + Missense_Mutation SNP C C A TCGA-A8-A082-01A-11W-A019-09 TCGA-A8-A082-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 575d25ea-eae7-423a-9464-d3b2806bf9eb 576b6dc6-351b-4a61-b6e4-fbfda702de27 9 33001567 33001567 C A SNP APTX ENST00000379819 human ensembl 69_37n -1 known missense c.36 p.W12C 0.439 superfamily_SMAD_FHA_domain pfam_Histidine_triad_HIT,superfamily_HIT-like,superfamily_SMAD_FHA_domain,pfscan_Histidine_triad_HIT - no_errors APTX HGNC ENSG00000137074 53 0 0.00 61 26 29.89 - - - ARHGEF15 0 genome.wustl.edu 37 17 8224297 8224298 + Frame_Shift_Ins INS - - C TCGA-A8-A082-01A-11W-A019-09 TCGA-A8-A082-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 575d25ea-eae7-423a-9464-d3b2806bf9eb 576b6dc6-351b-4a61-b6e4-fbfda702de27 17 8224297 8224298 - C INS ARHGEF15 ENST00000361926 human ensembl 69_37n +1 known frame_shift_ins c.2512_2513 p.P841fs 0.000:0.001 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 43 0 0.00 46 6 11.54 - - - BPTF 0 genome.wustl.edu 37 17 65925453 65925453 + Missense_Mutation SNP C C T TCGA-A8-A082-01A-11W-A019-09 TCGA-A8-A082-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 575d25ea-eae7-423a-9464-d3b2806bf9eb 576b6dc6-351b-4a61-b6e4-fbfda702de27 17 65925453 65925453 C T SNP BPTF ENST00000582467 human ensembl 69_37n +1 novel missense c.649 p.R217C 0.966 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region BPTF HGNC ENSG00000171634 76 0 0.00 41 31 41.33 - - - C11orf63 0 genome.wustl.edu 37 11 122828073 122828073 + Silent SNP G G A TCGA-A8-A082-01A-11W-A019-09 TCGA-A8-A082-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 575d25ea-eae7-423a-9464-d3b2806bf9eb 576b6dc6-351b-4a61-b6e4-fbfda702de27 11 122828073 122828073 G A SNP C11orf63 ENST00000227349 human ensembl 69_37n +1 known silent c.2013 p.T671 0.983 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 266 0 0.00 72 122 62.56 - - - COL27A1 0 genome.wustl.edu 37 9 116930472 116930472 + Missense_Mutation SNP C C G TCGA-A8-A082-01A-11W-A019-09 TCGA-A8-A082-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 575d25ea-eae7-423a-9464-d3b2806bf9eb 576b6dc6-351b-4a61-b6e4-fbfda702de27 9 116930472 116930472 C G SNP COL27A1 ENST00000356083 human ensembl 69_37n +1 known missense c.637 p.L213V 1.000 superfamily_ConA-like_lec_gl,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 56 0 0.00 38 18 32.14 - - - COL7A1 0 genome.wustl.edu 37 3 48612870 48612871 + Frame_Shift_Ins INS - - G TCGA-A8-A082-01A-11W-A019-09 TCGA-A8-A082-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 575d25ea-eae7-423a-9464-d3b2806bf9eb 576b6dc6-351b-4a61-b6e4-fbfda702de27 3 48612870 48612871 - G INS COL7A1 ENST00000328333 human ensembl 69_37n -1 known frame_shift_ins c.6082_6081 p.G2027fs 1.000:0.981 pfam_Collagen pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 16 0 0.00 15 2 11.76 - - - CPA4 0 genome.wustl.edu 37 7 129939179 129939179 + Nonsense_Mutation SNP C C T TCGA-A8-A082-01A-11W-A019-09 TCGA-A8-A082-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 575d25ea-eae7-423a-9464-d3b2806bf9eb 576b6dc6-351b-4a61-b6e4-fbfda702de27 7 129939179 129939179 C T SNP CPA4 ENST00000222482 human ensembl 69_37n +1 known nonsense c.220 p.Q74* 0.572 pfam_Prot_inh_M14A,superfamily_Prot_inh_propept pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA4 HGNC ENSG00000128510 147 0 0.00 86 51 36.96 - - - CROCCP2 0 genome.wustl.edu 37 1 16946407 16946407 + RNA SNP T T G TCGA-A8-A082-01A-11W-A019-09 TCGA-A8-A082-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 575d25ea-eae7-423a-9464-d3b2806bf9eb 576b6dc6-351b-4a61-b6e4-fbfda702de27 1 16946407 16946407 T G SNP CROCCP2 ENST00000412962 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors CROCCP2 HGNC ENSG00000215908 15 0 0.00 12 4 25.00 - - - CXXC11 0 genome.wustl.edu 37 2 242814374 242814375 + Frame_Shift_Ins INS - - C TCGA-A8-A082-01A-11W-A019-09 TCGA-A8-A082-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 575d25ea-eae7-423a-9464-d3b2806bf9eb 576b6dc6-351b-4a61-b6e4-fbfda702de27 2 242814374 242814375 - C INS CXXC11 ENST00000343216 human ensembl 69_37n +1 known frame_shift_ins c.667_668 p.A226fs 0.000:0.000 NULL NULL - no_errors CXXC11 HGNC ENSG00000188011 13 0 0.00 11 4 26.67 - - - ENPP3 0 genome.wustl.edu 37 6 132054845 132054845 + Missense_Mutation SNP G G C TCGA-A8-A082-01A-11W-A019-09 TCGA-A8-A082-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 575d25ea-eae7-423a-9464-d3b2806bf9eb 576b6dc6-351b-4a61-b6e4-fbfda702de27 6 132054845 132054845 G C SNP ENPP3 ENST00000357639 human ensembl 69_37n +1 known missense c.2071 p.G691R 1.000 pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom - no_errors ENPP3 HGNC ENSG00000154269 125 0 0.00 100 59 37.11 - - - FOXA1 0 genome.wustl.edu 37 14 38061240 38061240 + Missense_Mutation SNP G G A TCGA-A8-A082-01A-11W-A019-09 TCGA-A8-A082-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 575d25ea-eae7-423a-9464-d3b2806bf9eb 576b6dc6-351b-4a61-b6e4-fbfda702de27 14 38061240 38061240 G A SNP FOXA1 ENST00000250448 human ensembl 69_37n -1 known missense c.749 p.S250F 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA1 HGNC ENSG00000129514 20 0 0.00 13 7 33.33 - - - GDAP1 0 genome.wustl.edu 37 8 75276279 75276279 + Missense_Mutation SNP G G A TCGA-A8-A082-01A-11W-A019-09 TCGA-A8-A082-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 575d25ea-eae7-423a-9464-d3b2806bf9eb 576b6dc6-351b-4a61-b6e4-fbfda702de27 8 75276279 75276279 G A SNP GDAP1 ENST00000220822 human ensembl 69_37n +1 known missense c.754 p.A252T 1.000 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like - no_errors GDAP1 HGNC ENSG00000104381 110 0 0.00 75 104 57.78 - - - LECT1 0 genome.wustl.edu 37 13 53313765 53313766 + Frame_Shift_Ins INS - - G TCGA-A8-A082-01A-11W-A019-09 TCGA-A8-A082-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 575d25ea-eae7-423a-9464-d3b2806bf9eb 576b6dc6-351b-4a61-b6e4-fbfda702de27 13 53313765 53313766 - G INS LECT1 ENST00000377962 human ensembl 69_37n -1 known frame_shift_ins c.72_71 p.A25fs 1.000:1.000 NULL pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors LECT1 HGNC ENSG00000136110 27 0 0.00 10 3 23.08 - - - MAP3K1 0 genome.wustl.edu 37 5 56183311 56183311 + Frame_Shift_Del DEL A A - TCGA-A8-A082-01A-11W-A019-09 TCGA-A8-A082-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 575d25ea-eae7-423a-9464-d3b2806bf9eb 576b6dc6-351b-4a61-b6e4-fbfda702de27 5 56183311 56183311 A - DEL MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_del c.4221 p.Q1408fs 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,pfscan_Prot_kinase_cat_dom 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 335 0 0.00 228 112 32.28 - - - MGA 0 genome.wustl.edu 37 15 41988487 41988487 + Missense_Mutation SNP C C G TCGA-A8-A082-01A-11W-A019-09 TCGA-A8-A082-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 575d25ea-eae7-423a-9464-d3b2806bf9eb 576b6dc6-351b-4a61-b6e4-fbfda702de27 15 41988487 41988487 C G SNP MGA ENST00000219905 human ensembl 69_37n +1 known missense c.1279 p.L427V 0.964 NULL pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box - no_errors MGA HGNC ENSG00000174197 377 0 0.00 293 163 35.75 - - - MMP9 0 genome.wustl.edu 37 20 44640290 44640290 + Missense_Mutation SNP G G A TCGA-A8-A082-01A-11W-A019-09 TCGA-A8-A082-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 575d25ea-eae7-423a-9464-d3b2806bf9eb 576b6dc6-351b-4a61-b6e4-fbfda702de27 20 44640290 44640290 G A SNP MMP9 ENST00000372330 human ensembl 69_37n +1 known missense c.901 p.A301T 0.036 pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin - no_errors MMP9 HGNC ENSG00000100985 71 0 0.00 57 21 25.61 - - - NAA11 0 genome.wustl.edu 37 4 80246828 80246828 + Silent SNP C C T TCGA-A8-A082-01A-11W-A019-09 TCGA-A8-A082-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 575d25ea-eae7-423a-9464-d3b2806bf9eb 576b6dc6-351b-4a61-b6e4-fbfda702de27 4 80246828 80246828 C T SNP NAA11 ENST00000286794 human ensembl 69_37n -1 known silent c.204 p.P68 0.615 pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA11 HGNC ENSG00000156269 128 0 0.00 73 47 39.17 - - - OAS2 0 genome.wustl.edu 37 12 113435383 113435383 + Missense_Mutation SNP C C T TCGA-A8-A082-01A-11W-A019-09 TCGA-A8-A082-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 575d25ea-eae7-423a-9464-d3b2806bf9eb 576b6dc6-351b-4a61-b6e4-fbfda702de27 12 113435383 113435383 C T SNP OAS2 ENST00000342315 human ensembl 69_37n +1 known missense c.686 p.T229M 0.000 pfam_2-5-oligoAdlate_synth_1_dom2/C pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS2 HGNC ENSG00000111335 235 0 0.00 196 135 40.66 - - - PCED1A 0 genome.wustl.edu 37 20 2816203 2816204 + Frame_Shift_Ins INS - - C TCGA-A8-A082-01A-11W-A019-09 TCGA-A8-A082-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 575d25ea-eae7-423a-9464-d3b2806bf9eb 576b6dc6-351b-4a61-b6e4-fbfda702de27 20 2816203 2816204 - C INS PCED1A ENST00000360652 human ensembl 69_37n -1 known frame_shift_ins c.1270_1269 p.P423fs 0.660:0.001 NULL superfamily_Esterase_SGNH_hydro-type - no_errors PCED1A HGNC ENSG00000132635 47 0 0.00 29 4 12.12 - - - POLD1 0 genome.wustl.edu 37 19 50906369 50906370 + Frame_Shift_Ins INS - - G TCGA-A8-A082-01A-11W-A019-09 TCGA-A8-A082-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 575d25ea-eae7-423a-9464-d3b2806bf9eb 576b6dc6-351b-4a61-b6e4-fbfda702de27 19 50906369 50906370 - G INS POLD1 ENST00000440232 human ensembl 69_37n +1 known frame_shift_ins c.1030_1031 p.E346fs 1.000:1.000 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,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 POLD1 HGNC ENSG00000062822 8 0 0.00 4 2 33.33 - - - PPL 0 genome.wustl.edu 37 16 4937211 4937211 + Silent SNP G G A TCGA-A8-A082-01A-11W-A019-09 TCGA-A8-A082-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 575d25ea-eae7-423a-9464-d3b2806bf9eb 576b6dc6-351b-4a61-b6e4-fbfda702de27 16 4937211 4937211 G A SNP PPL ENST00000345988 human ensembl 69_37n -1 known silent c.2532 p.A844 1.000 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 128 0 0.00 65 38 36.89 - - - SLC13A4 0 genome.wustl.edu 37 7 135376383 135376383 + Missense_Mutation SNP G G A TCGA-A8-A082-01A-11W-A019-09 TCGA-A8-A082-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 575d25ea-eae7-423a-9464-d3b2806bf9eb 576b6dc6-351b-4a61-b6e4-fbfda702de27 7 135376383 135376383 G A SNP SLC13A4 ENST00000354042 human ensembl 69_37n -1 known missense c.1231 p.R411C 1.000 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM - no_errors SLC13A4 HGNC ENSG00000164707 67 0 0.00 52 28 35.00 - - - SLC9A6 0 genome.wustl.edu 37 X 135080645 135080646 + Frame_Shift_Ins INS - - T TCGA-A8-A082-01A-11W-A019-09 TCGA-A8-A082-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 575d25ea-eae7-423a-9464-d3b2806bf9eb 576b6dc6-351b-4a61-b6e4-fbfda702de27 X 135080645 135080646 - T INS SLC9A6 ENST00000370695 human ensembl 69_37n +1 known frame_shift_ins c.608_609 p.R206fs 1.000:1.000 pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A6 HGNC ENSG00000198689 214 0 0.00 153 47 23.50 - - - TBX18 0 genome.wustl.edu 37 6 85446535 85446535 + Silent SNP C C T TCGA-A8-A082-01A-11W-A019-09 TCGA-A8-A082-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 575d25ea-eae7-423a-9464-d3b2806bf9eb 576b6dc6-351b-4a61-b6e4-fbfda702de27 6 85446535 85446535 C T SNP TBX18 ENST00000369663 human ensembl 69_37n -1 known silent c.1692 p.T564 0.007 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX18 HGNC ENSG00000112837 115 0 0.00 61 39 39.00 - - - UTP14A 0 genome.wustl.edu 37 X 129059021 129059021 + Silent SNP A A G TCGA-A8-A082-01A-11W-A019-09 TCGA-A8-A082-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 575d25ea-eae7-423a-9464-d3b2806bf9eb 576b6dc6-351b-4a61-b6e4-fbfda702de27 X 129059021 129059021 A G SNP UTP14A ENST00000394422 human ensembl 69_37n +1 known silent c.1599 p.L533 0.006 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14A HGNC ENSG00000156697 295 0 0.00 276 35 11.25 - - -