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 AIP 0 genome.wustl.edu 37 11 67254510 67254510 + Missense_Mutation SNP G G A TCGA-C8-A12O-01A-11D-A10Y-09 TCGA-C8-A12O-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51dbda2a-106b-4597-aa49-609b677866c8 5d34bbb4-54c8-4a35-baee-80c72548ca34 11 67254510 67254510 G A SNP AIP ENST00000279146 human ensembl 69_37n +1 known missense c.133 p.D45N 0.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors AIP HGNC ENSG00000110711 34 0 0.00 80 11 12.09 - - - ASH1L-AS1 0 genome.wustl.edu 37 1 155531968 155531968 + RNA SNP C C T TCGA-C8-A12O-01A-11D-A10Y-09 TCGA-C8-A12O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51dbda2a-106b-4597-aa49-609b677866c8 5d34bbb4-54c8-4a35-baee-80c72548ca34 1 155531968 155531968 C T SNP ASH1L-AS1 ENST00000452809 human ensembl 69_37n +1 known rna NULL NULL 0.995 - - - no_errors ASH1L-AS1 HGNC ENSG00000235919 23 0 0.00 18 21 53.85 - - - ATP2A1 0 genome.wustl.edu 37 16 28913639 28913640 + Frame_Shift_Ins INS - - C TCGA-C8-A12O-01A-11D-A10Y-09 TCGA-C8-A12O-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51dbda2a-106b-4597-aa49-609b677866c8 5d34bbb4-54c8-4a35-baee-80c72548ca34 16 28913639 28913640 - C INS ATP2A1 ENST00000357084 human ensembl 69_37n +1 known frame_shift_ins c.2456_2457 p.R822fs 0.996:0.957 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2A1 HGNC ENSG00000196296 29 0 0.00 33 6 15.38 - - - ATP2B1 0 genome.wustl.edu 37 12 89998003 89998003 + Missense_Mutation SNP A A G TCGA-C8-A12O-01A-11D-A10Y-09 TCGA-C8-A12O-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51dbda2a-106b-4597-aa49-609b677866c8 5d34bbb4-54c8-4a35-baee-80c72548ca34 12 89998003 89998003 A G SNP ATP2B1 ENST00000261173 human ensembl 69_37n -1 known missense c.2563 p.F855L 1.000 tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B1 HGNC ENSG00000070961 172 0 0.00 190 97 33.80 - - - C16orf3 0 genome.wustl.edu 37 16 90095596 90095596 + Missense_Mutation SNP A A G TCGA-C8-A12O-01A-11D-A10Y-09 TCGA-C8-A12O-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51dbda2a-106b-4597-aa49-609b677866c8 5d34bbb4-54c8-4a35-baee-80c72548ca34 16 90095596 90095596 A G SNP C16orf3 ENST00000408886 human ensembl 69_37n -1 known missense c.155 p.I52T 0.000 NULL NULL - no_errors C16orf3 HGNC ENSG00000221819 12 0 0.00 20 12 37.50 - - - C5orf42 0 genome.wustl.edu 37 5 37158402 37158402 + Missense_Mutation SNP T T A TCGA-C8-A12O-01A-11D-A10Y-09 TCGA-C8-A12O-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51dbda2a-106b-4597-aa49-609b677866c8 5d34bbb4-54c8-4a35-baee-80c72548ca34 5 37158402 37158402 T A SNP C5orf42 ENST00000425232 human ensembl 69_37n -1 known missense c.7736 p.Y2579F 0.404 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 273 0 0.00 256 84 24.71 - - - C5orf42 0 genome.wustl.edu 37 5 37169279 37169279 + Missense_Mutation SNP G G A TCGA-C8-A12O-01A-11D-A10Y-09 TCGA-C8-A12O-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51dbda2a-106b-4597-aa49-609b677866c8 5d34bbb4-54c8-4a35-baee-80c72548ca34 5 37169279 37169279 G A SNP C5orf42 ENST00000425232 human ensembl 69_37n -1 known missense c.6847 p.H2283Y 0.020 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 165 0 0.00 178 73 29.08 - - - CDH4 0 genome.wustl.edu 37 20 60419757 60419757 + Missense_Mutation SNP C C T TCGA-C8-A12O-01A-11D-A10Y-09 TCGA-C8-A12O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51dbda2a-106b-4597-aa49-609b677866c8 5d34bbb4-54c8-4a35-baee-80c72548ca34 20 60419757 60419757 C T SNP CDH4 ENST00000360469 human ensembl 69_37n +1 known missense c.610 p.R204W 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin - no_errors CDH4 HGNC ENSG00000179242 40 0 0.00 36 20 35.71 - - - DAB2IP 0 genome.wustl.edu 37 9 124528882 124528882 + Missense_Mutation SNP C C T TCGA-C8-A12O-01A-11D-A10Y-09 TCGA-C8-A12O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51dbda2a-106b-4597-aa49-609b677866c8 5d34bbb4-54c8-4a35-baee-80c72548ca34 9 124528882 124528882 C T SNP DAB2IP ENST00000408936 human ensembl 69_37n +1 known missense c.1570 p.R524C 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 46 0 0.00 51 8 13.56 - - - DNAH17 0 genome.wustl.edu 37 17 76487632 76487632 + Nonsense_Mutation SNP G G A TCGA-C8-A12O-01A-11D-A10Y-09 TCGA-C8-A12O-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51dbda2a-106b-4597-aa49-609b677866c8 5d34bbb4-54c8-4a35-baee-80c72548ca34 17 76487632 76487632 G A SNP DNAH17 ENST00000389840 human ensembl 69_37n -1 known nonsense c.6520 p.R2174* 1.000 pfam_ATPase_dyneun-rel_AAA pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 110 0 0.00 152 64 29.63 - - - DNAJB13 0 genome.wustl.edu 37 11 73680349 73680349 + Missense_Mutation SNP C C G TCGA-C8-A12O-01A-11D-A10Y-09 TCGA-C8-A12O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51dbda2a-106b-4597-aa49-609b677866c8 5d34bbb4-54c8-4a35-baee-80c72548ca34 11 73680349 73680349 C G SNP DNAJB13 ENST00000339764 human ensembl 69_37n +1 known missense c.779 p.P260R 1.000 pfam_DnaJ_C,superfamily_HSP40/DnaJ_pept-bd pfam_DnaJ_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_N,prints_Hsp_DnaJ,pfscan_DnaJ_N - no_errors DNAJB13 HGNC ENSG00000187726 79 0 0.00 67 14 17.28 - - - FLVCR1 0 genome.wustl.edu 37 1 213037133 213037133 + Missense_Mutation SNP C C T TCGA-C8-A12O-01A-11D-A10Y-09 TCGA-C8-A12O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51dbda2a-106b-4597-aa49-609b677866c8 5d34bbb4-54c8-4a35-baee-80c72548ca34 1 213037133 213037133 C T SNP FLVCR1 ENST00000366971 human ensembl 69_37n +1 known missense c.805 p.L269F 0.039 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors FLVCR1 HGNC ENSG00000162769 322 0 0.00 348 53 13.22 - - - GAGE2B 0 genome.wustl.edu 37 X 49236865 49236865 + Missense_Mutation SNP G G C TCGA-C8-A12O-01A-11D-A10Y-09 TCGA-C8-A12O-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51dbda2a-106b-4597-aa49-609b677866c8 5d34bbb4-54c8-4a35-baee-80c72548ca34 X 49236865 49236865 G C SNP GAGE2B ENST00000381725 human ensembl 69_37n +1 known missense c.35 p.R12T 0.002 pfam_GAGE pfam_GAGE - no_errors GAGE2B HGNC ENSG00000231850 525 0 0.00 405 103 20.28 - - - GREB1 0 genome.wustl.edu 37 2 11772121 11772121 + Silent SNP C C T TCGA-C8-A12O-01A-11D-A10Y-09 TCGA-C8-A12O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51dbda2a-106b-4597-aa49-609b677866c8 5d34bbb4-54c8-4a35-baee-80c72548ca34 2 11772121 11772121 C T SNP GREB1 ENST00000234142 human ensembl 69_37n +1 known silent c.4698 p.D1566 0.241 NULL NULL - no_errors GREB1 HGNC ENSG00000196208 93 0 0.00 97 18 15.65 - - - HSPD1 0 genome.wustl.edu 37 2 198353857 198353857 + Missense_Mutation SNP C C A TCGA-C8-A12O-01A-11D-A10Y-09 TCGA-C8-A12O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51dbda2a-106b-4597-aa49-609b677866c8 5d34bbb4-54c8-4a35-baee-80c72548ca34 2 198353857 198353857 C A SNP HSPD1 ENST00000345042 human ensembl 69_37n -1 known missense c.1084 p.G362C 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chaprnin_Cpn60 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaprnin_Cpn60,prints_Chaperone_TCP-1,tigrfam_Chaprnin_Cpn60 - no_errors HSPD1 HGNC ENSG00000144381 147 0 0.00 108 13 10.74 - - - INPP4B 0 genome.wustl.edu 37 4 143114276 143114276 + Missense_Mutation SNP C C T TCGA-C8-A12O-01A-11D-A10Y-09 TCGA-C8-A12O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51dbda2a-106b-4597-aa49-609b677866c8 5d34bbb4-54c8-4a35-baee-80c72548ca34 4 143114276 143114276 C T SNP INPP4B ENST00000509777 human ensembl 69_37n -1 known missense c.1145 p.R382Q 1.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors INPP4B HGNC ENSG00000109452 253 0 0.00 208 33 13.69 - - - KIAA1755 0 genome.wustl.edu 37 20 36874487 36874487 + Silent SNP C C T TCGA-C8-A12O-01A-11D-A10Y-09 TCGA-C8-A12O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51dbda2a-106b-4597-aa49-609b677866c8 5d34bbb4-54c8-4a35-baee-80c72548ca34 20 36874487 36874487 C T SNP KIAA1755 ENST00000279024 human ensembl 69_37n -1 known silent c.45 p.A15 0.072 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 36 0 0.00 53 17 24.29 - - - MASTL 0 genome.wustl.edu 37 10 27459378 27459378 + Missense_Mutation SNP A A G TCGA-C8-A12O-01A-11D-A10Y-09 TCGA-C8-A12O-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51dbda2a-106b-4597-aa49-609b677866c8 5d34bbb4-54c8-4a35-baee-80c72548ca34 10 27459378 27459378 A G SNP MASTL ENST00000375940 human ensembl 69_37n +1 known missense c.1490 p.K497R 0.005 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom 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 - no_errors MASTL HGNC ENSG00000120539 86 0 0.00 75 42 35.90 - - - MCOLN2 0 genome.wustl.edu 37 1 85403443 85403443 + Missense_Mutation SNP C C T TCGA-C8-A12O-01A-11D-A10Y-09 TCGA-C8-A12O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51dbda2a-106b-4597-aa49-609b677866c8 5d34bbb4-54c8-4a35-baee-80c72548ca34 1 85403443 85403443 C T SNP MCOLN2 ENST00000370608 human ensembl 69_37n -1 known missense c.1330 p.D444N 1.000 pfam_PKD1_2_channel pfam_PKD1_2_channel - no_errors MCOLN2 HGNC ENSG00000153898 88 0 0.00 71 37 34.26 - - - MEX3B 0 genome.wustl.edu 37 15 82336479 82336479 + Silent SNP G G A TCGA-C8-A12O-01A-11D-A10Y-09 TCGA-C8-A12O-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51dbda2a-106b-4597-aa49-609b677866c8 5d34bbb4-54c8-4a35-baee-80c72548ca34 15 82336479 82336479 G A SNP MEX3B ENST00000329713 human ensembl 69_37n -1 known silent c.732 p.N244 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3B HGNC ENSG00000183496 15 0 0.00 21 5 19.23 - - - MFF 0 genome.wustl.edu 37 2 228194484 228194484 + Missense_Mutation SNP A A T TCGA-C8-A12O-01A-11D-A10Y-09 TCGA-C8-A12O-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51dbda2a-106b-4597-aa49-609b677866c8 5d34bbb4-54c8-4a35-baee-80c72548ca34 2 228194484 228194484 A T SNP MFF ENST00000353339 human ensembl 69_37n +1 known missense c.23 p.D8V 1.000 NULL pfam_FATE/Miff/Tango-11 - no_errors MFF HGNC ENSG00000168958 162 0 0.00 172 34 16.50 - - - MYCBP2 0 genome.wustl.edu 37 13 77644827 77644827 + Missense_Mutation SNP A A G TCGA-C8-A12O-01A-11D-A10Y-09 TCGA-C8-A12O-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51dbda2a-106b-4597-aa49-609b677866c8 5d34bbb4-54c8-4a35-baee-80c72548ca34 13 77644827 77644827 A G SNP MYCBP2 ENST00000407578 human ensembl 69_37n -1 known missense c.11843 p.L3948P 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,prints_Reg_chr_condens,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 169 0 0.00 82 86 51.19 - - - MYH8 0 genome.wustl.edu 37 17 10303960 10303960 + Missense_Mutation SNP G G T TCGA-C8-A12O-01A-11D-A10Y-09 TCGA-C8-A12O-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51dbda2a-106b-4597-aa49-609b677866c8 5d34bbb4-54c8-4a35-baee-80c72548ca34 17 10303960 10303960 G T SNP MYH8 ENST00000403437 human ensembl 69_37n -1 known missense c.3482 p.S1161Y 0.883 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 93 0 0.00 52 15 22.39 - - - PHRF1 0 genome.wustl.edu 37 11 610989 610991 + In_Frame_Del DEL GGA GGA - TCGA-C8-A12O-01A-11D-A10Y-09 TCGA-C8-A12O-10A-01D-A110-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51dbda2a-106b-4597-aa49-609b677866c8 5d34bbb4-54c8-4a35-baee-80c72548ca34 11 610989 610991 GGA - DEL PHRF1 ENST00000264555 human ensembl 69_37n +1 known in_frame_del c.4713_4715 p.E1573in_frame_del 1.000:1.000:1.000 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 83 0 0.00 119 37 23.27 - - - PKD1L3 0 genome.wustl.edu 37 16 72032228 72032228 + RNA SNP G G A TCGA-C8-A12O-01A-11D-A10Y-09 TCGA-C8-A12O-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51dbda2a-106b-4597-aa49-609b677866c8 5d34bbb4-54c8-4a35-baee-80c72548ca34 16 72032228 72032228 G A SNP PKD1L3 ENST00000335106 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors PKD1L3 HGNC ENSG00000187008 142 0 0.00 124 51 29.14 - - - POFUT1 0 genome.wustl.edu 37 20 30816166 30816166 + Missense_Mutation SNP T T A TCGA-C8-A12O-01A-11D-A10Y-09 TCGA-C8-A12O-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51dbda2a-106b-4597-aa49-609b677866c8 5d34bbb4-54c8-4a35-baee-80c72548ca34 20 30816166 30816166 T A SNP POFUT1 ENST00000375749 human ensembl 69_37n +1 known missense c.643 p.S215T 1.000 pfam_GDP-Fuc_O-FucTrfase pfam_GDP-Fuc_O-FucTrfase - no_errors POFUT1 HGNC ENSG00000101346 64 0 0.00 106 29 21.32 - - - RUNX1 0 genome.wustl.edu 37 21 36252860 36252860 + Missense_Mutation SNP C C G TCGA-C8-A12O-01A-11D-A10Y-09 TCGA-C8-A12O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51dbda2a-106b-4597-aa49-609b677866c8 5d34bbb4-54c8-4a35-baee-80c72548ca34 21 36252860 36252860 C G SNP RUNX1 ENST00000300305 human ensembl 69_37n -1 known missense c.502 p.G168R 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 134 0 0.00 92 53 36.55 - - - SLC9A1 0 genome.wustl.edu 37 1 27429181 27429181 + Silent SNP G G A TCGA-C8-A12O-01A-11D-A10Y-09 TCGA-C8-A12O-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51dbda2a-106b-4597-aa49-609b677866c8 5d34bbb4-54c8-4a35-baee-80c72548ca34 1 27429181 27429181 G A SNP SLC9A1 ENST00000263980 human ensembl 69_37n -1 known silent c.1629 p.H543 1.000 tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A1 HGNC ENSG00000090020 40 0 0.00 37 9 19.57 - - - TP53 0 genome.wustl.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T TCGA-C8-A12O-01A-11D-A10Y-09 TCGA-C8-A12O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51dbda2a-106b-4597-aa49-609b677866c8 5d34bbb4-54c8-4a35-baee-80c72548ca34 17 7577120 7577120 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.818 p.R273H 0.864 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor 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 96 0 0.00 85 32 27.35 - - - TRIM17 0 genome.wustl.edu 37 1 228596209 228596209 + Missense_Mutation SNP C C T TCGA-C8-A12O-01A-11D-A10Y-09 TCGA-C8-A12O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51dbda2a-106b-4597-aa49-609b677866c8 5d34bbb4-54c8-4a35-baee-80c72548ca34 1 228596209 228596209 C T SNP TRIM17 ENST00000295033 human ensembl 69_37n -1 known missense c.1127 p.R376Q 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM17 HGNC ENSG00000162931 54 0 0.00 61 17 21.79 - - - TSHR 0 genome.wustl.edu 37 14 81609772 81609772 + Missense_Mutation SNP C C A TCGA-C8-A12O-01A-11D-A10Y-09 TCGA-C8-A12O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51dbda2a-106b-4597-aa49-609b677866c8 5d34bbb4-54c8-4a35-baee-80c72548ca34 14 81609772 81609772 C A SNP TSHR ENST00000298171 human ensembl 69_37n +1 known missense c.1370 p.A457D 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_TSH_rcpt,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt - no_errors TSHR HGNC ENSG00000165409 571 0 0.00 725 335 31.57 - - - ZNF814 0 genome.wustl.edu 37 19 58384420 58384420 + Missense_Mutation SNP A A G TCGA-C8-A12O-01A-11D-A10Y-09 TCGA-C8-A12O-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51dbda2a-106b-4597-aa49-609b677866c8 5d34bbb4-54c8-4a35-baee-80c72548ca34 19 58384420 58384420 A G SNP ZNF814 ENST00000435989 human ensembl 69_37n -1 known missense c.2338 p.S780P 0.024 pfam_Znf_C2H2,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 ZNF814 HGNC ENSG00000204514 207 0 0.00 146 57 28.08 - - -