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 AIDA 0 genome.wustl.edu 37 1 222843570 222843570 + Missense_Mutation SNP G G C TCGA-BH-A0DG-01A-21D-A12Q-09 TCGA-BH-A0DG-11A-43D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec4d4cbc-d5d1-418d-a292-cad9576624fd d0d81468-73f6-4a8a-8f00-b99bd127c228 1 222843570 222843570 G C SNP AIDA ENST00000340020 human ensembl 69_37n -1 known missense c.729 p.F243L 1.000 pfam_AIDA pfam_AIDA,superfamily_AIDA_N - no_errors AIDA HGNC ENSG00000186063 277 0 0.00 353 59 14.25 - - - C3 0 genome.wustl.edu 37 19 6697369 6697369 + Missense_Mutation SNP A A C TCGA-BH-A0DG-01A-21D-A12Q-09 TCGA-BH-A0DG-11A-43D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec4d4cbc-d5d1-418d-a292-cad9576624fd d0d81468-73f6-4a8a-8f00-b99bd127c228 19 6697369 6697369 A C SNP C3 ENST00000245907 human ensembl 69_37n -1 known missense c.2782 p.S928A 0.067 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C3 HGNC ENSG00000125730 65 0 0.00 50 13 20.63 - - - CRNN 0 genome.wustl.edu 37 1 152382164 152382164 + Missense_Mutation SNP G G T TCGA-BH-A0DG-01A-21D-A12Q-09 TCGA-BH-A0DG-11A-43D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec4d4cbc-d5d1-418d-a292-cad9576624fd d0d81468-73f6-4a8a-8f00-b99bd127c228 1 152382164 152382164 G T SNP CRNN ENST00000271835 human ensembl 69_37n -1 known missense c.1394 p.S465Y 0.002 NULL pfam_S100_Ca-bd_sub,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CRNN HGNC ENSG00000143536 142 0 0.00 261 46 14.98 - - - CYFIP2 0 genome.wustl.edu 37 5 156760407 156760407 + Missense_Mutation SNP G G T TCGA-BH-A0DG-01A-21D-A12Q-09 TCGA-BH-A0DG-11A-43D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec4d4cbc-d5d1-418d-a292-cad9576624fd d0d81468-73f6-4a8a-8f00-b99bd127c228 5 156760407 156760407 G T SNP CYFIP2 ENST00000318218 human ensembl 69_37n +1 known missense c.2413 p.D805Y 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 216 0 0.00 226 69 23.39 - - - DNM3 0 genome.wustl.edu 37 1 172277938 172277938 + Missense_Mutation SNP G G A TCGA-BH-A0DG-01A-21D-A12Q-09 TCGA-BH-A0DG-11A-43D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec4d4cbc-d5d1-418d-a292-cad9576624fd d0d81468-73f6-4a8a-8f00-b99bd127c228 1 172277938 172277938 G A SNP DNM3 ENST00000358155 human ensembl 69_37n +1 known missense c.1840 p.A614T 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin - no_errors DNM3 HGNC ENSG00000197959 132 0 0.00 111 62 35.84 - - - FAM86B2 0 genome.wustl.edu 37 8 12283473 12283473 + Missense_Mutation SNP C C T TCGA-BH-A0DG-01A-21D-A12Q-09 TCGA-BH-A0DG-11A-43D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec4d4cbc-d5d1-418d-a292-cad9576624fd d0d81468-73f6-4a8a-8f00-b99bd127c228 8 12283473 12283473 C T SNP FAM86B2 ENST00000393715 human ensembl 69_37n -1 known missense c.376 p.G126R 0.000 NULL NULL - no_errors FAM86B2 HGNC ENSG00000145002 11 0 0.00 1 2 66.67 - - - GATA3 0 genome.wustl.edu 37 10 8115874 8115875 + Frame_Shift_Ins INS - - G TCGA-BH-A0DG-01A-21D-A12Q-09 TCGA-BH-A0DG-11A-43D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec4d4cbc-d5d1-418d-a292-cad9576624fd d0d81468-73f6-4a8a-8f00-b99bd127c228 10 8115874 8115875 - G INS GATA3 ENST00000379328 human ensembl 69_37n +1 known frame_shift_ins c.1223_1224 p.P409fs 0.903:0.359 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 96 0 0.00 104 21 16.80 - - - GOLGA2 0 genome.wustl.edu 37 9 131038206 131038206 + Missense_Mutation SNP G G A TCGA-BH-A0DG-01A-21D-A12Q-09 TCGA-BH-A0DG-11A-43D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec4d4cbc-d5d1-418d-a292-cad9576624fd d0d81468-73f6-4a8a-8f00-b99bd127c228 9 131038206 131038206 G A SNP GOLGA2 ENST00000421699 human ensembl 69_37n -1 known missense c.50 p.T17I 1.000 NULL superfamily_CofA_tubulin-bd - no_errors GOLGA2 HGNC ENSG00000167110 35 0 0.00 37 17 31.48 - - - GPR143 0 genome.wustl.edu 37 X 9707633 9707633 + Missense_Mutation SNP C C T TCGA-BH-A0DG-01A-21D-A12Q-09 TCGA-BH-A0DG-11A-43D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec4d4cbc-d5d1-418d-a292-cad9576624fd d0d81468-73f6-4a8a-8f00-b99bd127c228 X 9707633 9707633 C T SNP GPR143 ENST00000380929 human ensembl 69_37n -1 known missense c.1072 p.E358K 0.311 pfam_Ocular_alb1 pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1 - no_errors GPR143 HGNC ENSG00000101850 98 0 0.00 88 12 12.00 - - - KDM4A 0 genome.wustl.edu 37 1 44126037 44126037 + Missense_Mutation SNP A A G TCGA-BH-A0DG-01A-21D-A12Q-09 TCGA-BH-A0DG-11A-43D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec4d4cbc-d5d1-418d-a292-cad9576624fd d0d81468-73f6-4a8a-8f00-b99bd127c228 1 44126037 44126037 A G SNP KDM4A ENST00000372396 human ensembl 69_37n +1 known missense c.383 p.N128S 1.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4A HGNC ENSG00000066135 293 0 0.00 242 61 20.13 - - - KIAA1033 0 genome.wustl.edu 37 12 105521054 105521054 + Missense_Mutation SNP C C G TCGA-BH-A0DG-01A-21D-A12Q-09 TCGA-BH-A0DG-11A-43D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec4d4cbc-d5d1-418d-a292-cad9576624fd d0d81468-73f6-4a8a-8f00-b99bd127c228 12 105521054 105521054 C G SNP KIAA1033 ENST00000332180 human ensembl 69_37n +1 known missense c.1186 p.Q396E 1.000 NULL NULL - no_errors KIAA1033 HGNC ENSG00000136051 218 0 0.00 177 30 14.49 - - - KRTAP24-1 0 genome.wustl.edu 37 21 31655201 31655201 + Missense_Mutation SNP G G A TCGA-BH-A0DG-01A-21D-A12Q-09 TCGA-BH-A0DG-11A-43D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec4d4cbc-d5d1-418d-a292-cad9576624fd d0d81468-73f6-4a8a-8f00-b99bd127c228 21 31655201 31655201 G A SNP KRTAP24-1 ENST00000340345 human ensembl 69_37n -1 known missense c.50 p.T17I 0.000 pfam_PMG pfam_PMG - no_errors KRTAP24-1 HGNC ENSG00000188694 40 0 0.00 50 8 13.56 - - - MAGEH1 0 genome.wustl.edu 37 X 55478908 55478908 + Missense_Mutation SNP C C A TCGA-BH-A0DG-01A-21D-A12Q-09 TCGA-BH-A0DG-11A-43D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec4d4cbc-d5d1-418d-a292-cad9576624fd d0d81468-73f6-4a8a-8f00-b99bd127c228 X 55478908 55478908 C A SNP MAGEH1 ENST00000342972 human ensembl 69_37n +1 known missense c.101 p.P34H 0.004 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEH1 HGNC ENSG00000187601 18 0 0.00 19 5 20.83 - - - ME3 0 genome.wustl.edu 37 11 86382866 86382866 + Missense_Mutation SNP C C T TCGA-BH-A0DG-01A-21D-A12Q-09 TCGA-BH-A0DG-11A-43D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec4d4cbc-d5d1-418d-a292-cad9576624fd d0d81468-73f6-4a8a-8f00-b99bd127c228 11 86382866 86382866 C T SNP ME3 ENST00000359636 human ensembl 69_37n -1 known missense c.121 p.A41T 0.000 NULL pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME3 HGNC ENSG00000151376 18 0 0.00 40 13 24.53 - - - PKHD1 0 genome.wustl.edu 37 6 51512917 51512917 + Splice_Site SNP C C G TCGA-BH-A0DG-01A-21D-A12Q-09 TCGA-BH-A0DG-11A-43D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec4d4cbc-d5d1-418d-a292-cad9576624fd d0d81468-73f6-4a8a-8f00-b99bd127c228 6 51512917 51512917 C G SNP PKHD1 ENST00000371117 human ensembl 69_37n -1 known splice_site c.11311-1 e62-1 1.000 - - - no_errors PKHD1 HGNC ENSG00000170927 190 0 0.00 116 33 22.15 - - - POLE 0 genome.wustl.edu 37 12 133249314 133249314 + Missense_Mutation SNP C C A TCGA-BH-A0DG-01A-21D-A12Q-09 TCGA-BH-A0DG-11A-43D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec4d4cbc-d5d1-418d-a292-cad9576624fd d0d81468-73f6-4a8a-8f00-b99bd127c228 12 133249314 133249314 C A SNP POLE ENST00000455752 human ensembl 69_37n -1 known missense c.1618 p.D540Y 0.140 smart_DNA-dir_DNA_pol_B pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 224 0 0.00 249 64 20.45 - - - RNF207 0 genome.wustl.edu 37 1 6272428 6272428 + Silent SNP C C T TCGA-BH-A0DG-01A-21D-A12Q-09 TCGA-BH-A0DG-11A-43D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec4d4cbc-d5d1-418d-a292-cad9576624fd d0d81468-73f6-4a8a-8f00-b99bd127c228 1 6272428 6272428 C T SNP RNF207 ENST00000377939 human ensembl 69_37n +1 novel silent c.1434 p.I478 0.310 NULL pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors RNF207 HGNC ENSG00000158286 39 0 0.00 22 8 26.67 - - - SCD 0 genome.wustl.edu 37 10 102108102 102108102 + Missense_Mutation SNP G G C TCGA-BH-A0DG-01A-21D-A12Q-09 TCGA-BH-A0DG-11A-43D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec4d4cbc-d5d1-418d-a292-cad9576624fd d0d81468-73f6-4a8a-8f00-b99bd127c228 10 102108102 102108102 G C SNP SCD ENST00000370355 human ensembl 69_37n +1 known missense c.309 p.W103C 1.000 pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core - no_errors SCD HGNC ENSG00000099194 185 0 0.00 182 30 14.15 - - - SHANK1 0 genome.wustl.edu 37 19 51207386 51207386 + Missense_Mutation SNP G G T TCGA-BH-A0DG-01A-21D-A12Q-09 TCGA-BH-A0DG-11A-43D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec4d4cbc-d5d1-418d-a292-cad9576624fd d0d81468-73f6-4a8a-8f00-b99bd127c228 19 51207386 51207386 G T SNP SHANK1 ENST00000391814 human ensembl 69_37n -1 known missense c.1213 p.Q405K 0.987 smart_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 150 0 0.00 207 49 19.14 - - - SRD5A1 0 genome.wustl.edu 37 5 6663054 6663054 + Missense_Mutation SNP T T C TCGA-BH-A0DG-01A-21D-A12Q-09 TCGA-BH-A0DG-11A-43D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec4d4cbc-d5d1-418d-a292-cad9576624fd d0d81468-73f6-4a8a-8f00-b99bd127c228 5 6663054 6663054 T C SNP SRD5A1 ENST00000274192 human ensembl 69_37n +1 known missense c.688 p.S230P 0.000 pfam_3-oxo-5_a-steroid_4-DH_C,pirsf_3-oxo-5-alpha-steroid_4-DH,pfscan_3-oxo-5_a-steroid_4-DH_C pfam_3-oxo-5_a-steroid_4-DH_C,pfam_DUF1295,pirsf_3-oxo-5-alpha-steroid_4-DH,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors SRD5A1 HGNC ENSG00000145545 415 0 0.00 377 88 18.92 - - - STXBP2 0 genome.wustl.edu 37 19 7704692 7704692 + Missense_Mutation SNP A A C TCGA-BH-A0DG-01A-21D-A12Q-09 TCGA-BH-A0DG-11A-43D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec4d4cbc-d5d1-418d-a292-cad9576624fd d0d81468-73f6-4a8a-8f00-b99bd127c228 19 7704692 7704692 A C SNP STXBP2 ENST00000441779 human ensembl 69_37n +1 known missense c.245 p.K82T 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP2 HGNC ENSG00000076944 122 0 0.00 162 39 19.40 - - - TNNT3 0 genome.wustl.edu 37 11 1954967 1954967 + Missense_Mutation SNP G G A TCGA-BH-A0DG-01A-21D-A12Q-09 TCGA-BH-A0DG-11A-43D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec4d4cbc-d5d1-418d-a292-cad9576624fd d0d81468-73f6-4a8a-8f00-b99bd127c228 11 1954967 1954967 G A SNP TNNT3 ENST00000397301 human ensembl 69_37n +1 known missense c.221 p.R74H 1.000 pfam_Troponin pfam_Troponin - no_errors TNNT3 HGNC ENSG00000130595 43 0 0.00 53 13 19.70 - - - TSKS 0 genome.wustl.edu 37 19 50249950 50249950 + Missense_Mutation SNP C C T TCGA-BH-A0DG-01A-21D-A12Q-09 TCGA-BH-A0DG-11A-43D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec4d4cbc-d5d1-418d-a292-cad9576624fd d0d81468-73f6-4a8a-8f00-b99bd127c228 19 50249950 50249950 C T SNP TSKS ENST00000246801 human ensembl 69_37n -1 known missense c.769 p.E257K 0.208 NULL NULL - no_errors TSKS HGNC ENSG00000126467 16 0 0.00 18 5 21.74 - - - YES1 0 genome.wustl.edu 37 18 743380 743380 + Missense_Mutation SNP C C G TCGA-BH-A0DG-01A-21D-A12Q-09 TCGA-BH-A0DG-11A-43D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec4d4cbc-d5d1-418d-a292-cad9576624fd d0d81468-73f6-4a8a-8f00-b99bd127c228 18 743380 743380 C G SNP YES1 ENST00000314574 human ensembl 69_37n -1 known missense c.760 p.V254L 1.000 pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors YES1 HGNC ENSG00000176105 126 0 0.00 84 46 35.38 - - - ZDBF2 0 genome.wustl.edu 37 2 207175935 207175935 + Missense_Mutation SNP C C T TCGA-BH-A0DG-01A-21D-A12Q-09 TCGA-BH-A0DG-11A-43D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ec4d4cbc-d5d1-418d-a292-cad9576624fd d0d81468-73f6-4a8a-8f00-b99bd127c228 2 207175935 207175935 C T SNP ZDBF2 ENST00000374423 human ensembl 69_37n +1 known missense c.6683 p.S2228L 0.006 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 100 0 0.00 96 17 14.91 - - -