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 ADAM29 0 genome.wustl.edu 37 4 175897708 175897708 + Silent SNP G G A TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3be3972f-4125-44c3-94d6-0ddba2008fcf 6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb 4 175897708 175897708 G A SNP ADAM29 ENST00000359240 human ensembl 69_37n +1 known silent c.1032 p.E344 0.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM29 HGNC ENSG00000168594 38 0 0.00 31 60 65.93 - - - ALDOC 0 genome.wustl.edu 37 17 26901258 26901258 + Missense_Mutation SNP A A G TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3be3972f-4125-44c3-94d6-0ddba2008fcf 6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb 17 26901258 26901258 A G SNP ALDOC ENST00000226253 human ensembl 69_37n -1 known missense c.626 p.V209A 1.000 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOC HGNC ENSG00000109107 27 0 0.00 42 19 31.15 - - - CASP4 0 genome.wustl.edu 37 11 104825700 104825700 + Missense_Mutation SNP C C G TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3be3972f-4125-44c3-94d6-0ddba2008fcf 6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb 11 104825700 104825700 C G SNP CASP4 ENST00000444739 human ensembl 69_37n -1 known missense c.36 p.K12N 0.009 pfam_CARD,superfamily_DEATH-like,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP4 HGNC ENSG00000196954 56 0 0.00 40 31 43.66 - - - CNTRL 0 genome.wustl.edu 37 9 123930557 123930557 + Missense_Mutation SNP G G A TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3be3972f-4125-44c3-94d6-0ddba2008fcf 6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb 9 123930557 123930557 G A SNP CNTRL ENST00000238341 human ensembl 69_37n +1 known missense c.6028 p.E2010K 1.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 68 0 0.00 36 62 63.27 - - - CRIM1 0 genome.wustl.edu 37 2 36583699 36583699 + Missense_Mutation SNP G G C TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3be3972f-4125-44c3-94d6-0ddba2008fcf 6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb 2 36583699 36583699 G C SNP CRIM1 ENST00000428774 human ensembl 69_37n +1 putative missense c.86 p.C29S 1.000 NULL NULL - no_start_codon:no_stop_codon:bad_bp_length_for_coding_region CRIM1 HGNC ENSG00000150938 12 0 0.00 5 4 44.44 - - - DCAF7 0 genome.wustl.edu 37 17 61662631 61662631 + Missense_Mutation SNP G G A TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3be3972f-4125-44c3-94d6-0ddba2008fcf 6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb 17 61662631 61662631 G A SNP DCAF7 ENST00000310827 human ensembl 69_37n +1 known missense c.797 p.R266Q 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF7 HGNC ENSG00000136485 61 0 0.00 76 27 26.21 - - - DHX37 0 genome.wustl.edu 37 12 125448967 125448967 + Missense_Mutation SNP C C T TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3be3972f-4125-44c3-94d6-0ddba2008fcf 6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb 12 125448967 125448967 C T SNP DHX37 ENST00000308736 human ensembl 69_37n -1 known missense c.2018 p.G673E 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX37 HGNC ENSG00000150990 41 0 0.00 22 17 43.59 - - - FAM174A 0 genome.wustl.edu 37 5 99871633 99871633 + Silent SNP C C G TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3be3972f-4125-44c3-94d6-0ddba2008fcf 6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb 5 99871633 99871633 C G SNP FAM174A ENST00000312637 human ensembl 69_37n +1 known silent c.399 p.G133 1.000 pfam_DUF1180 pfam_DUF1180 - no_errors FAM174A HGNC ENSG00000174132 14 0 0.00 9 12 57.14 - - - GATA3 0 genome.wustl.edu 37 10 8115711 8115711 + Frame_Shift_Del DEL C C - TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3be3972f-4125-44c3-94d6-0ddba2008fcf 6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb 10 8115711 8115711 C - DEL GATA3 ENST00000379328 human ensembl 69_37n +1 known frame_shift_del c.1060 p.L355fs 1.000 smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 34 0 0.00 26 13 32.50 - - - IFT74 0 genome.wustl.edu 37 9 26988692 26988692 + Missense_Mutation SNP C C T TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3be3972f-4125-44c3-94d6-0ddba2008fcf 6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb 9 26988692 26988692 C T SNP IFT74 ENST00000380062 human ensembl 69_37n +1 known missense c.491 p.T164I 1.000 NULL NULL - no_errors IFT74 HGNC ENSG00000096872 17 0 0.00 24 18 42.86 - - - IREB2 0 genome.wustl.edu 37 15 78775776 78775776 + Silent SNP G G A TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3be3972f-4125-44c3-94d6-0ddba2008fcf 6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb 15 78775776 78775776 G A SNP IREB2 ENST00000258886 human ensembl 69_37n +1 known silent c.1413 p.K471 1.000 pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors IREB2 HGNC ENSG00000136381 87 0 0.00 59 34 36.17 - - - KALRN 0 genome.wustl.edu 37 3 124438238 124438238 + Missense_Mutation SNP G G A TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3be3972f-4125-44c3-94d6-0ddba2008fcf 6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb 3 124438238 124438238 G A SNP KALRN ENST00000360013 human ensembl 69_37n +1 known missense c.8882 p.R2961H 1.000 superfamily_Kinase-like_dom pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 19 0 0.00 5 7 58.33 - - - LGR6 0 genome.wustl.edu 37 1 202249911 202249911 + Missense_Mutation SNP A A T TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3be3972f-4125-44c3-94d6-0ddba2008fcf 6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb 1 202249911 202249911 A T SNP LGR6 ENST00000367278 human ensembl 69_37n +1 known missense c.647 p.H216L 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_7TM_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors LGR6 HGNC ENSG00000133067 65 0 0.00 65 143 68.75 - - - LINS 0 genome.wustl.edu 37 15 101115307 101115307 + Silent SNP A A T TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3be3972f-4125-44c3-94d6-0ddba2008fcf 6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb 15 101115307 101115307 A T SNP LINS ENST00000314742 human ensembl 69_37n -1 known silent c.516 p.A172 0.601 NULL NULL - no_errors LINS HGNC ENSG00000140471 53 0 0.00 33 23 41.07 - - - MLL3 0 genome.wustl.edu 37 7 151843775 151843776 + Frame_Shift_Del DEL TT TT - TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3be3972f-4125-44c3-94d6-0ddba2008fcf 6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb 7 151843775 151843776 TT - DEL MLL3 ENST00000355193 human ensembl 69_37n -1 known frame_shift_del c.14111_14110 p.K4704fs 0.004:0.003 pfam_FYrich_C,smart_FYrich_C pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 41 0 0.00 27 23 46.00 - - - MPHOSPH8 0 genome.wustl.edu 37 13 20237220 20237220 + Missense_Mutation SNP C C T TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3be3972f-4125-44c3-94d6-0ddba2008fcf 6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb 13 20237220 20237220 C T SNP MPHOSPH8 ENST00000414242 human ensembl 69_37n +1 known missense c.1973 p.A658V 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow - no_errors MPHOSPH8 HGNC ENSG00000196199 94 0 0.00 55 11 15.94 - - - MUC16 0 genome.wustl.edu 37 19 9085003 9085003 + Missense_Mutation SNP G G A TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3be3972f-4125-44c3-94d6-0ddba2008fcf 6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb 19 9085003 9085003 G A SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.6812 p.T2271I 0.026 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 51 0 0.00 44 21 32.31 - - - NEK8 0 genome.wustl.edu 37 17 27064381 27064381 + Missense_Mutation SNP C C T TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3be3972f-4125-44c3-94d6-0ddba2008fcf 6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb 17 27064381 27064381 C T SNP NEK8 ENST00000268766 human ensembl 69_37n +1 known missense c.676 p.R226W 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_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_cat_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK8 HGNC ENSG00000160602 42 0 0.00 44 12 21.43 - - - NOVA1 0 genome.wustl.edu 37 14 26939694 26939694 + Silent SNP C C T TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3be3972f-4125-44c3-94d6-0ddba2008fcf 6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb 14 26939694 26939694 C T SNP NOVA1 ENST00000344429 human ensembl 69_37n -1 known silent c.522 p.K174 0.001 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC ENSG00000139910 137 0 0.00 139 43 23.63 - - - OR8S1 0 genome.wustl.edu 37 12 48919779 48919779 + Missense_Mutation SNP G G A TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3be3972f-4125-44c3-94d6-0ddba2008fcf 6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb 12 48919779 48919779 G A SNP OR8S1 ENST00000310194 human ensembl 69_37n +1 known missense c.365 p.R122H 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR8S1 HGNC ENSG00000197376 91 0 0.00 94 33 25.98 - - - PCDHGB7 0 genome.wustl.edu 37 5 140798223 140798223 + Missense_Mutation SNP C C A TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3be3972f-4125-44c3-94d6-0ddba2008fcf 6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb 5 140798223 140798223 C A SNP PCDHGB7 ENST00000398594 human ensembl 69_37n +1 known missense c.797 p.A266D 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 29 0 0.00 19 4 17.39 - - - PLK2 0 genome.wustl.edu 37 5 57750566 57750568 + In_Frame_Del DEL GAT GAT - TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 GAT GAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3be3972f-4125-44c3-94d6-0ddba2008fcf 6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb 5 57750566 57750568 GAT - DEL PLK2 ENST00000274289 human ensembl 69_37n -1 known in_frame_del c.1902_1900 p.I634in_frame_del 1.000:1.000:1.000 pfam_POLO_box_duplicated_dom,pfscan_POLO_box_duplicated_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom - no_errors PLK2 HGNC ENSG00000145632 91 0 0.00 150 31 17.03 - - - POU3F4 0 genome.wustl.edu 37 X 82764246 82764246 + Missense_Mutation SNP C C T TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3be3972f-4125-44c3-94d6-0ddba2008fcf 6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb X 82764246 82764246 C T SNP POU3F4 ENST00000373200 human ensembl 69_37n +1 known missense c.914 p.A305V 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Transcription_factor_POU,pfscan_Homeodomain pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pirsf_Transcription_factor_POU,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU3F4 HGNC ENSG00000196767 27 0 0.00 17 8 32.00 - - - PSMD5 0 genome.wustl.edu 37 9 123593673 123593673 + Missense_Mutation SNP T T C TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3be3972f-4125-44c3-94d6-0ddba2008fcf 6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb 9 123593673 123593673 T C SNP PSMD5 ENST00000210313 human ensembl 69_37n -1 known missense c.497 p.N166S 1.000 pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold - no_errors PSMD5 HGNC ENSG00000095261 74 0 0.00 112 55 32.93 - - - RNF148 0 genome.wustl.edu 37 7 122342439 122342439 + Missense_Mutation SNP C C A TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3be3972f-4125-44c3-94d6-0ddba2008fcf 6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb 7 122342439 122342439 C A SNP RNF148 ENST00000434824 human ensembl 69_37n -1 known missense c.366 p.K122N 0.997 pfam_Protease-assoc_domain pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF148 HGNC ENSG00000235631 56 0 0.00 50 32 39.02 - - - RYR2 0 genome.wustl.edu 37 1 237608772 237608772 + Silent SNP C C G TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3be3972f-4125-44c3-94d6-0ddba2008fcf 6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb 1 237608772 237608772 C G SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known silent c.1236 p.R412 0.566 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,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,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 113 0 0.00 221 36 14.01 - - - TFF2 0 genome.wustl.edu 37 21 43767728 43767728 + Silent SNP G G A TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3be3972f-4125-44c3-94d6-0ddba2008fcf 6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb 21 43767728 43767728 G A SNP TFF2 ENST00000291526 human ensembl 69_37n -1 known silent c.243 p.C81 0.632 pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,prints_P_trefoil_chordata - no_errors TFF2 HGNC ENSG00000160181 31 0 0.00 19 12 38.71 - - - TPP2 0 genome.wustl.edu 37 13 103301465 103301465 + Missense_Mutation SNP A A C TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3be3972f-4125-44c3-94d6-0ddba2008fcf 6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb 13 103301465 103301465 A C SNP TPP2 ENST00000376065 human ensembl 69_37n +1 known missense c.2837 p.N946T 0.998 pfam_Peptidase_S8A_TPPII pfam_Peptidase_S8/S53,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel - no_errors TPP2 HGNC ENSG00000134900 34 0 0.00 21 11 34.38 - - - TRPM4 0 genome.wustl.edu 37 19 49700060 49700061 + Frame_Shift_Ins INS - - T TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3be3972f-4125-44c3-94d6-0ddba2008fcf 6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb 19 49700060 49700061 - T INS TRPM4 ENST00000252826 human ensembl 69_37n +1 known frame_shift_ins c.2574_2575 p.Y858fs 0.967:1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 16 0 0.00 6 3 33.33 - - - VCPIP1 0 genome.wustl.edu 37 8 67578573 67578573 + Missense_Mutation SNP A A C TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3be3972f-4125-44c3-94d6-0ddba2008fcf 6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb 8 67578573 67578573 A C SNP VCPIP1 ENST00000310421 human ensembl 69_37n -1 known missense c.621 p.C207W 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 34 0 0.00 65 15 18.75 - - - WBSCR17 0 genome.wustl.edu 37 7 71142235 71142235 + Missense_Mutation SNP G G A TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3be3972f-4125-44c3-94d6-0ddba2008fcf 6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb 7 71142235 71142235 G A SNP WBSCR17 ENST00000333538 human ensembl 69_37n +1 known missense c.1444 p.G482R 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 61 0 0.00 46 38 45.24 - - - ZNF208 0 genome.wustl.edu 37 19 22156855 22156855 + Silent SNP G G A TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3be3972f-4125-44c3-94d6-0ddba2008fcf 6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb 19 22156855 22156855 G A SNP ZNF208 ENST00000397126 human ensembl 69_37n -1 known silent c.981 p.T327 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZNF208 HGNC ENSG00000160321 42 0 0.00 46 12 20.69 - - - ZNF609 0 genome.wustl.edu 37 15 64915230 64915230 + Missense_Mutation SNP G G C TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3be3972f-4125-44c3-94d6-0ddba2008fcf 6d5d4c16-d571-4ad1-b5d7-e8cbc3736afb 15 64915230 64915230 G C SNP ZNF609 ENST00000326648 human ensembl 69_37n +1 known missense c.952 p.V318L 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 47 0 0.00 38 15 28.30 - - -