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 ALPK2 0 genome.wustl.edu 37 18 56203486 56203486 + Missense_Mutation SNP T T A TCGA-AO-A12A-01A-21D-A10Y-09 TCGA-AO-A12A-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 77e7b41a-d4c8-42ee-ae6e-da15ea3634d9 b6e9d2a3-6c63-406b-b101-c4ee350b90df 18 56203486 56203486 T A SNP ALPK2 ENST00000361673 human ensembl 69_37n -1 known missense c.3933 p.R1311S 0.002 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK2 HGNC ENSG00000198796 75 0 0.00 75 15 16.67 - - - CFHR3 0 genome.wustl.edu 37 1 196759282 196759282 + Missense_Mutation SNP C C T TCGA-AO-A12A-01A-21D-A10Y-09 TCGA-AO-A12A-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 77e7b41a-d4c8-42ee-ae6e-da15ea3634d9 b6e9d2a3-6c63-406b-b101-c4ee350b90df 1 196759282 196759282 C T SNP CFHR3 ENST00000367425 human ensembl 69_37n +1 known missense c.721 p.P241S 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR3 HGNC ENSG00000116785 178 1 0.56 81 24 22.86 - - - CWF19L2 0 genome.wustl.edu 37 11 107300004 107300005 + Frame_Shift_Ins INS - - T TCGA-AO-A12A-01A-21D-A10Y-09 TCGA-AO-A12A-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 77e7b41a-d4c8-42ee-ae6e-da15ea3634d9 b6e9d2a3-6c63-406b-b101-c4ee350b90df 11 107300004 107300005 - T INS CWF19L2 ENST00000282251 human ensembl 69_37n -1 known frame_shift_ins c.954_953 p.Y318fs 0.000:0.057 NULL pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L2 HGNC ENSG00000152404 350 0 0.00 268 47 14.92 - - - ERBB3 0 genome.wustl.edu 37 12 56479001 56479001 + Nonsense_Mutation SNP C C T TCGA-AO-A12A-01A-21D-A10Y-09 TCGA-AO-A12A-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 77e7b41a-d4c8-42ee-ae6e-da15ea3634d9 b6e9d2a3-6c63-406b-b101-c4ee350b90df 12 56479001 56479001 C T SNP ERBB3 ENST00000411731 human ensembl 69_37n +1 known nonsense c.457 p.Q153* 0.299 NULL pfam_EGF_rcpt_L - no_errors ERBB3 HGNC ENSG00000065361 51 0 0.00 48 6 11.11 - - - FLRT2 0 genome.wustl.edu 37 14 86089046 86089046 + Silent SNP G G A TCGA-AO-A12A-01A-21D-A10Y-09 TCGA-AO-A12A-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 77e7b41a-d4c8-42ee-ae6e-da15ea3634d9 b6e9d2a3-6c63-406b-b101-c4ee350b90df 14 86089046 86089046 G A SNP FLRT2 ENST00000330753 human ensembl 69_37n +1 known silent c.1188 p.T396 0.000 NULL pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 89 0 0.00 92 11 10.68 - - - GATA3 0 genome.wustl.edu 37 10 8111433 8111434 + Splice_Site DEL CA CA - TCGA-AO-A12A-01A-21D-A10Y-09 TCGA-AO-A12A-10A-01D-A110-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 77e7b41a-d4c8-42ee-ae6e-da15ea3634d9 b6e9d2a3-6c63-406b-b101-c4ee350b90df 10 8111433 8111434 CA - DEL GATA3 ENST00000379328 human ensembl 69_37n +1 known splice_site_del c.925-3_925-2 e4-2 1.000:1.000 - - - no_errors GATA3 HGNC ENSG00000107485 84 0 0 59 24 28.92 - - - GRIA1 0 genome.wustl.edu 37 5 153056565 153056565 + Silent SNP G G A TCGA-AO-A12A-01A-21D-A10Y-09 TCGA-AO-A12A-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 77e7b41a-d4c8-42ee-ae6e-da15ea3634d9 b6e9d2a3-6c63-406b-b101-c4ee350b90df 5 153056565 153056565 G A SNP GRIA1 ENST00000448073 human ensembl 69_37n +1 known silent c.903 p.A301 0.889 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 55 0 0.00 56 9 13.85 - - - KDM6A 0 genome.wustl.edu 37 X 44942776 44942776 + Missense_Mutation SNP T T C TCGA-AO-A12A-01A-21D-A10Y-09 TCGA-AO-A12A-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 77e7b41a-d4c8-42ee-ae6e-da15ea3634d9 b6e9d2a3-6c63-406b-b101-c4ee350b90df X 44942776 44942776 T C SNP KDM6A ENST00000382899 human ensembl 69_37n +1 known missense c.3377 p.L1126P 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC ENSG00000147050 192 0 0.00 134 50 27.17 - - - KRTAP10-4 0 genome.wustl.edu 37 21 45993851 45993851 + Silent SNP C C T TCGA-AO-A12A-01A-21D-A10Y-09 TCGA-AO-A12A-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 77e7b41a-d4c8-42ee-ae6e-da15ea3634d9 b6e9d2a3-6c63-406b-b101-c4ee350b90df 21 45993851 45993851 C T SNP KRTAP10-4 ENST00000400374 human ensembl 69_37n +1 known silent c.216 p.C72 0.141 NULL NULL - no_errors KRTAP10-4 HGNC ENSG00000215454 14 0 0.00 31 10 24.39 - - - MUC12 0 genome.wustl.edu 37 7 100647276 100647276 + Missense_Mutation SNP C C A TCGA-AO-A12A-01A-21D-A10Y-09 TCGA-AO-A12A-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 77e7b41a-d4c8-42ee-ae6e-da15ea3634d9 b6e9d2a3-6c63-406b-b101-c4ee350b90df 7 100647276 100647276 C A SNP MUC12 ENST00000379442 human ensembl 69_37n +1 known missense c.13861 p.P4621T 0.001 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 112 0 0.00 118 15 11.28 - - - OR2T2 0 genome.wustl.edu 37 1 248616883 248616883 + Missense_Mutation SNP T T A TCGA-AO-A12A-01A-21D-A10Y-09 TCGA-AO-A12A-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 77e7b41a-d4c8-42ee-ae6e-da15ea3634d9 b6e9d2a3-6c63-406b-b101-c4ee350b90df 1 248616883 248616883 T A SNP OR2T2 ENST00000342927 human ensembl 69_37n +1 known missense c.785 p.L262Q 0.339 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2T2 HGNC ENSG00000196240 34 0 0.00 122 18 12.86 - - - OTOGL 0 genome.wustl.edu 37 12 80750196 80750196 + Missense_Mutation SNP G G T TCGA-AO-A12A-01A-21D-A10Y-09 TCGA-AO-A12A-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 77e7b41a-d4c8-42ee-ae6e-da15ea3634d9 b6e9d2a3-6c63-406b-b101-c4ee350b90df 12 80750196 80750196 G T SNP OTOGL ENST00000458043 human ensembl 69_37n +1 known missense c.5780 p.G1927V 0.982 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 129 0 0.00 54 13 19.40 - - - PIK3CA 0 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-AO-A12A-01A-21D-A10Y-09 TCGA-AO-A12A-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 77e7b41a-d4c8-42ee-ae6e-da15ea3634d9 b6e9d2a3-6c63-406b-b101-c4ee350b90df 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_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 162 0 0.00 69 41 36.94 - - - POLH 0 genome.wustl.edu 37 6 43571740 43571740 + Silent SNP G G A TCGA-AO-A12A-01A-21D-A10Y-09 TCGA-AO-A12A-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 77e7b41a-d4c8-42ee-ae6e-da15ea3634d9 b6e9d2a3-6c63-406b-b101-c4ee350b90df 6 43571740 43571740 G A SNP POLH ENST00000372236 human ensembl 69_37n +1 known silent c.876 p.E292 0.884 pfam_DNA_pol_Y-fam_little_finger,pirsf_DNA_pol_eta pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger,pirsf_DNA_pol_eta,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLH HGNC ENSG00000170734 209 0 0.00 144 18 11.11 - - - SRRM5 0 genome.wustl.edu 37 19 44117260 44117260 + Missense_Mutation SNP C C A TCGA-AO-A12A-01A-21D-A10Y-09 TCGA-AO-A12A-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 77e7b41a-d4c8-42ee-ae6e-da15ea3634d9 b6e9d2a3-6c63-406b-b101-c4ee350b90df 19 44117260 44117260 C A SNP SRRM5 ENST00000526798 human ensembl 69_37n +1 known missense c.1032 p.H344Q 0.001 NULL NULL - no_errors SRRM5 HGNC ENSG00000226763 58 0 0.00 63 7 10.00 - - - ZNF93 0 genome.wustl.edu 37 19 20026206 20026206 + Missense_Mutation SNP G G A TCGA-AO-A12A-01A-21D-A10Y-09 TCGA-AO-A12A-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 77e7b41a-d4c8-42ee-ae6e-da15ea3634d9 b6e9d2a3-6c63-406b-b101-c4ee350b90df 19 20026206 20026206 G A SNP ZNF93 ENST00000343769 human ensembl 69_37n +1 known missense c.121 p.V41I 0.898 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF93 HGNC ENSG00000184635 403 0 0.00 211 27 11.34 - - -