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 AGXT2 0 genome.wustl.edu 37 5 35039475 35039475 + Missense_Mutation SNP C C A TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 5 35039475 35039475 C A SNP AGXT2 ENST00000231420 human ensembl 69_37n -1 known missense c.316 p.D106Y 1.000 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors AGXT2 HGNC ENSG00000113492 96 0 0.00 80 13 13.98 - - - BEND3 0 genome.wustl.edu 37 6 107390228 107390228 + Missense_Mutation SNP C C T TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 6 107390228 107390228 C T SNP BEND3 ENST00000369042 human ensembl 69_37n -1 known missense c.2167 p.D723N 1.000 NULL pfam_BEN_domain - no_errors BEND3 HGNC ENSG00000178409 42 0 0.00 28 5 15.15 - - - BOD1L1 0 genome.wustl.edu 37 4 13605938 13605938 + Silent SNP G G A TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 4 13605938 13605938 G A SNP BOD1L1 ENST00000040738 human ensembl 69_37n -1 known silent c.2586 p.I862 0.000 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 350 1 0.28 214 39 15.42 - - - CUX2 0 genome.wustl.edu 37 12 111785675 111785675 + Missense_Mutation SNP C C T TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 12 111785675 111785675 C T SNP CUX2 ENST00000261726 human ensembl 69_37n +1 known missense c.4007 p.P1336L 0.000 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 55 0 0.00 48 10 17.24 - - - CYTH3 0 genome.wustl.edu 37 7 6210581 6210581 + Silent SNP G G A TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 7 6210581 6210581 G A SNP CYTH3 ENST00000350796 human ensembl 69_37n -1 known silent c.591 p.I197 1.000 pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7 pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7 - no_errors CYTH3 HGNC ENSG00000008256 123 0 0.00 154 18 10.47 - - - DCAF12 0 genome.wustl.edu 37 9 34125232 34125232 + Missense_Mutation SNP G G A TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 9 34125232 34125232 G A SNP DCAF12 ENST00000361264 human ensembl 69_37n -1 known missense c.122 p.P41L 0.974 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12 HGNC ENSG00000198876 95 0 0.00 82 33 28.70 - - - EPDR1 0 genome.wustl.edu 37 7 37960275 37960275 + Missense_Mutation SNP C C A TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 7 37960275 37960275 C A SNP EPDR1 ENST00000559325 human ensembl 69_37n +1 known missense c.94 p.Q32K 0.095 NULL pfam_Ependymin,smart_Ependymin,prints_Ependymin - no_errors EPDR1 HGNC ENSG00000086289 28 0 0.00 25 4 13.79 - - - EPHA6 0 genome.wustl.edu 37 3 97185269 97185269 + Missense_Mutation SNP C C G TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 3 97185269 97185269 C G SNP EPHA6 ENST00000502694 human ensembl 69_37n +1 known missense c.13 p.P5A 0.001 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 297 0 0.00 169 20 10.58 - - - EXOC4 0 genome.wustl.edu 37 7 132937919 132937919 + Missense_Mutation SNP C C T TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 7 132937919 132937919 C T SNP EXOC4 ENST00000253861 human ensembl 69_37n +1 known missense c.62 p.S21L 1.000 NULL pfam_Sec8_exocyst - no_errors EXOC4 HGNC ENSG00000131558 86 0 0.00 59 8 11.76 - - - FAM192A 0 genome.wustl.edu 37 16 57188235 57188235 + Missense_Mutation SNP G G A TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 16 57188235 57188235 G A SNP FAM192A ENST00000565956 human ensembl 69_37n -1 novel missense c.430 p.L144F 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FAM192A HGNC ENSG00000172775 116 0 0.00 59 10 14.49 - - - FAM196B 0 genome.wustl.edu 37 5 169310560 169310560 + Missense_Mutation SNP G G A TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 5 169310560 169310560 G A SNP FAM196B ENST00000377365 human ensembl 69_37n -1 known missense c.343 p.L115F 0.999 NULL NULL - no_errors FAM196B HGNC ENSG00000204767 167 0 0.00 105 20 16.00 - - - FXR1 0 genome.wustl.edu 37 3 180687950 180687950 + Nonsense_Mutation SNP C C G TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 3 180687950 180687950 C G SNP FXR1 ENST00000482125 human ensembl 69_37n +1 novel nonsense c.209 p.S70* 1.000 pfam_Frag_X_MRP_fam pfam_Frag_X_MRP_fam - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FXR1 HGNC ENSG00000114416 117 0 0.00 57 25 30.49 - - - GBP5 0 genome.wustl.edu 37 1 89732775 89732775 + Missense_Mutation SNP C C G TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 1 89732775 89732775 C G SNP GBP5 ENST00000343435 human ensembl 69_37n -1 known missense c.490 p.E164Q 0.156 pfam_Guanylate-bd_N pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors GBP5 HGNC ENSG00000154451 139 0 0.00 77 14 15.38 - - - GFM1 0 genome.wustl.edu 37 3 158376754 158376754 + Missense_Mutation SNP G G A TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 3 158376754 158376754 G A SNP GFM1 ENST00000486715 human ensembl 69_37n +1 known missense c.1127 p.G376E 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,tigrfam_Transl_elong_EFG/EF2 pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_ProtSyn_GTP-bd,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom - no_errors GFM1 HGNC ENSG00000168827 199 0 0.00 138 21 13.21 - - - GLRB 0 genome.wustl.edu 37 4 158065056 158065056 + Silent SNP C C T TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 4 158065056 158065056 C T SNP GLRB ENST00000264428 human ensembl 69_37n +1 known silent c.849 p.L283 0.751 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRB HGNC ENSG00000109738 302 0 0.00 147 24 14.04 - - - GREB1L 0 genome.wustl.edu 37 18 19019528 19019528 + Nonsense_Mutation SNP C C T TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 18 19019528 19019528 C T SNP GREB1L ENST00000579454 human ensembl 69_37n +1 putative nonsense c.400 p.Q134* 0.656 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region GREB1L HGNC ENSG00000141449 255 0 0.00 103 20 16.26 - - - HIVEP2 0 genome.wustl.edu 37 6 143091478 143091478 + Silent SNP G G A TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 6 143091478 143091478 G A SNP HIVEP2 ENST00000012134 human ensembl 69_37n -1 known silent c.4398 p.Y1466 0.147 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 442 0 0.00 197 43 17.92 - - - KAT6B 0 genome.wustl.edu 37 10 76603067 76603067 + Missense_Mutation SNP G G A TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 10 76603067 76603067 G A SNP KAT6B ENST00000287239 human ensembl 69_37n +1 known missense c.452 p.R151Q 1.000 pfam_Histone_H1/H5,smart_Histone_H1/H5 pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 111 0 0.00 62 26 29.55 - - - MST1P9 0 genome.wustl.edu 37 1 17085995 17085996 + Frame_Shift_Ins INS - - C TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 1 17085995 17085996 - C INS MST1P9 ENST00000334998 human ensembl 69_37n -1 known frame_shift_ins c.902_901 p.A301fs 0.980:0.979 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors MST1P9 HGNC ENSG00000186715 12 0 0.00 10 5 33.33 - - - NYAP1 0 genome.wustl.edu 37 7 100088184 100088184 + Missense_Mutation SNP C C T TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 7 100088184 100088184 C T SNP NYAP1 ENST00000423930 human ensembl 69_37n +1 known missense c.1993 p.P665S 0.995 NULL NULL - no_errors NYAP1 HGNC ENSG00000166924 32 0 0.00 18 6 25.00 - - - ODZ1 0 genome.wustl.edu 37 X 123518516 123518516 + Missense_Mutation SNP C C T TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 X 123518516 123518516 C T SNP ODZ1 ENST00000422452 human ensembl 69_37n -1 known missense c.6265 p.V2089I 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD - no_errors ODZ1 HGNC ENSG00000009694 336 0 0.00 127 64 33.51 - - - PCDHA5 0 genome.wustl.edu 37 5 140203377 140203377 + Missense_Mutation SNP C C A TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 5 140203377 140203377 C A SNP PCDHA5 ENST00000529859 human ensembl 69_37n +1 known missense c.2017 p.Q673K 0.073 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 26 0 0.00 30 8 21.05 - - - PDGFRA 0 genome.wustl.edu 37 4 55141065 55141065 + Missense_Mutation SNP G G A TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 4 55141065 55141065 G A SNP PDGFRA ENST00000257290 human ensembl 69_37n +1 known missense c.1711 p.E571K 1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors PDGFRA HGNC ENSG00000134853 123 0 0.00 78 25 24.27 - - - PIEZO1 0 genome.wustl.edu 37 16 88799821 88799821 + Missense_Mutation SNP G G A TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 16 88799821 88799821 G A SNP PIEZO1 ENST00000451779 human ensembl 69_37n -1 putative missense c.1076 p.S359L 0.994 NULL pfam_DUF3595 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PIEZO1 HGNC ENSG00000103335 13 0 0.00 16 5 23.81 - - - PLCG1 0 genome.wustl.edu 37 20 39802138 39802138 + Missense_Mutation SNP G G A TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 20 39802138 39802138 G A SNP PLCG1 ENST00000244007 human ensembl 69_37n +1 known missense c.3358 p.E1120K 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_C2_membr_targeting pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2 - no_errors PLCG1 HGNC ENSG00000124181 209 0 0.00 143 18 11.18 - - - PRKRIR 0 genome.wustl.edu 37 11 76062204 76062204 + Missense_Mutation SNP C C T TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 11 76062204 76062204 C T SNP PRKRIR ENST00000260045 human ensembl 69_37n -1 known missense c.1990 p.E664K 1.000 pfam_HATC,superfamily_RNaseH-like_dom pfam_Znf_C2CH,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors PRKRIR HGNC ENSG00000137492 231 0 0.00 152 25 14.12 - - - SEC31B 0 genome.wustl.edu 37 10 102255183 102255183 + Missense_Mutation SNP C C G TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 10 102255183 102255183 C G SNP SEC31B ENST00000370345 human ensembl 69_37n -1 known missense c.2431 p.E811Q 0.283 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31B HGNC ENSG00000075826 121 0 0.00 98 15 13.27 - - - SLCO5A1 0 genome.wustl.edu 37 8 70591657 70591657 + Missense_Mutation SNP G G T TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 8 70591657 70591657 G T SNP SLCO5A1 ENST00000260126 human ensembl 69_37n -1 known missense c.1980 p.F660L 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC ENSG00000137571 307 0 0.00 322 38 10.53 - - - TGFBR1 0 genome.wustl.edu 37 9 101900249 101900249 + Missense_Mutation SNP A A T TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 9 101900249 101900249 A T SNP TGFBR1 ENST00000374994 human ensembl 69_37n +1 known missense c.683 p.E228V 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,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,superfamily_Quinolinate_PRibosylTrfase_C,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TGFBR1 HGNC ENSG00000106799 267 0 0.00 243 53 17.85 - - - TP53 0 genome.wustl.edu 37 17 7577558 7577558 + Frame_Shift_Del DEL G G - TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 17 7577558 7577558 G - DEL TP53 ENST00000269305 human ensembl 69_37n -1 known frame_shift_del c.723 p.C242fs 1.000 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 138 0 0.00 53 23 30.26 - - - TPO 0 genome.wustl.edu 37 2 1500429 1500429 + Missense_Mutation SNP G G A TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 2 1500429 1500429 G A SNP TPO ENST00000329066 human ensembl 69_37n +1 known missense c.2278 p.G760R 0.793 superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 211 0 0.00 147 23 13.53 - - - TRIM55 0 genome.wustl.edu 37 8 67040682 67040682 + Silent SNP C C A TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 8 67040682 67040682 C A SNP TRIM55 ENST00000315962 human ensembl 69_37n +1 known silent c.312 p.I104 1.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM55 HGNC ENSG00000147573 181 0 0.00 145 17 10.49 - - - UPK2 0 genome.wustl.edu 37 11 118828354 118828354 + Missense_Mutation SNP G G C TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 11 118828354 118828354 G C SNP UPK2 ENST00000264031 human ensembl 69_37n +1 known missense c.394 p.E132Q 0.316 pfam_Uroplakin_II,pirsf_Uroplakin_II pfam_Uroplakin_II,pirsf_Uroplakin_II - no_errors UPK2 HGNC ENSG00000110375 201 0 0.00 170 23 11.92 - - - VPS33A 0 genome.wustl.edu 37 12 122716807 122716807 + Missense_Mutation SNP C C G TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 12 122716807 122716807 C G SNP VPS33A ENST00000267199 human ensembl 69_37n -1 known missense c.1777 p.E593Q 1.000 superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS33A HGNC ENSG00000139719 250 1 0.40 219 29 11.69 - - - ZNF157 0 genome.wustl.edu 37 X 47270116 47270116 + Missense_Mutation SNP G G C TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 X 47270116 47270116 G C SNP ZNF157 ENST00000377073 human ensembl 69_37n +1 known missense c.237 p.L79F 1.000 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 ZNF157 HGNC ENSG00000147117 167 0 0.00 134 22 14.10 - - - ZNF41 0 genome.wustl.edu 37 X 47307056 47307056 + Missense_Mutation SNP G G A TCGA-AO-A12D-01A-11D-A10Y-09 TCGA-AO-A12D-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3065cfe-3067-4f08-8c82-46f10c1ec279 d1f36155-9a05-4343-9a9a-c25286291304 X 47307056 47307056 G A SNP ZNF41 ENST00000397050 human ensembl 69_37n -1 known missense c.2143 p.R715C 0.021 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 ZNF41 HGNC ENSG00000147124 223 0 0.00 195 31 13.66 - - -