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 ABCB11 0 genome.wustl.edu 37 2 169842673 169842673 + Missense_Mutation SNP C C T TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 2 169842673 169842673 C T SNP ABCB11 ENST00000263817 human ensembl 69_37n -1 known missense c.1030 p.G344S 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB11 HGNC ENSG00000073734 327 0 0.00 193 70 26.62 - - - AKAP13 0 genome.wustl.edu 37 15 86123003 86123003 + Silent SNP G G A TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 15 86123003 86123003 G A SNP AKAP13 ENST00000361243 human ensembl 69_37n +1 known silent c.1704 p.T568 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 39 0 0.00 40 5 10.87 - - - ASIC4 0 genome.wustl.edu 37 2 220402756 220402756 + Silent SNP T T C TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 2 220402756 220402756 T C SNP ASIC4 ENST00000347842 human ensembl 69_37n +1 known silent c.1932 p.D644 1.000 NULL pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC4 HGNC ENSG00000072182 107 0 0.00 32 32 50.00 - - - CHRNA1 0 genome.wustl.edu 37 2 175624061 175624061 + Missense_Mutation SNP G G T TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 2 175624061 175624061 G T SNP CHRNA1 ENST00000261007 human ensembl 69_37n -1 known missense c.232 p.Q78K 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNA1 HGNC ENSG00000138435 143 0 0.00 51 42 45.16 - - - COL19A1 0 genome.wustl.edu 37 6 70639432 70639432 + Missense_Mutation SNP G G A TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 6 70639432 70639432 G A SNP COL19A1 ENST00000322773 human ensembl 69_37n +1 known missense c.506 p.R169H 1.000 superfamily_ConA-like_lec_gl,smart_Laminin_G pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 384 0 0.00 226 148 39.57 - - - CXorf40A 0 genome.wustl.edu 37 X 148627391 148627391 + Missense_Mutation SNP T T G TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 X 148627391 148627391 T G SNP CXorf40A ENST00000359293 human ensembl 69_37n +1 known missense c.215 p.L72R 0.008 superfamily_PUA-like_domain superfamily_PUA-like_domain - no_errors CXorf40A HGNC ENSG00000197620 37 0 0.00 12 18 60.00 - - - DCHS2 0 genome.wustl.edu 37 4 155180776 155180776 + Missense_Mutation SNP T T A TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 4 155180776 155180776 T A SNP DCHS2 ENST00000357232 human ensembl 69_37n -1 known missense c.5345 p.D1782V 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 299 0 0.00 110 93 45.59 - - - EIF5B 0 genome.wustl.edu 37 2 99993052 99993052 + Missense_Mutation SNP C C T TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 2 99993052 99993052 C T SNP EIF5B ENST00000289371 human ensembl 69_37n +1 known missense c.1795 p.R599W 1.000 NULL pfam_ProtSyn_GTP-bd,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_TIF_IF2_dom3,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 600 0 0.00 329 106 24.37 - - - FMN2 0 genome.wustl.edu 37 1 240371704 240371704 + Missense_Mutation SNP C C A TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 1 240371704 240371704 C A SNP FMN2 ENST00000319653 human ensembl 69_37n +1 known missense c.3592 p.P1198T 1.000 pfam_Formin_homology_1,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 26 0 0.00 12 21 63.64 - - - FNDC4 0 genome.wustl.edu 37 2 27717516 27717517 + Frame_Shift_Ins INS - - G TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 2 27717516 27717517 - G INS FNDC4 ENST00000264703 human ensembl 69_37n -1 known frame_shift_ins c.31_30 p.S10fs 0.989:0.915 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC4 HGNC ENSG00000115226 23 0 0.00 44 6 12.00 - - - GOLGA6L1 0 genome.wustl.edu 37 15 22742829 22742829 + Missense_Mutation SNP T T G TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 15 22742829 22742829 T G SNP GOLGA6L1 ENST00000316397 human ensembl 69_37n +1 known missense c.1214 p.I405R 0.161 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors GOLGA6L1 HGNC ENSG00000197414 42 0 0.00 14 6 30.00 - - - GPKOW 0 genome.wustl.edu 37 X 48972279 48972279 + Missense_Mutation SNP T T C TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 X 48972279 48972279 T C SNP GPKOW ENST00000156109 human ensembl 69_37n -1 known missense c.1106 p.N369S 0.863 NULL pfam_KOW,pfam_G_patch_dom,superfamily_Translation_prot_SH3-like,smart_G_patch_dom,smart_KOW,pfscan_G_patch_dom - no_errors GPKOW HGNC ENSG00000068394 109 0 0.00 57 76 57.14 - - - HSPA5 0 genome.wustl.edu 37 9 128001807 128001807 + Silent SNP G G A TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 9 128001807 128001807 G A SNP HSPA5 ENST00000324460 human ensembl 69_37n -1 known silent c.498 p.T166 0.959 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA5 HGNC ENSG00000044574 77 0 0.00 53 27 33.75 - - - INSL5 0 genome.wustl.edu 37 1 67266829 67266829 + Missense_Mutation SNP C C A TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 1 67266829 67266829 C A SNP INSL5 ENST00000304526 human ensembl 69_37n -1 known missense c.76 p.V26L 0.028 superfamily_Insulin-like,smart_Insulin-like pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like - no_errors INSL5 HGNC ENSG00000172410 182 0 0.00 263 80 23.32 - - - LILRA6 0 genome.wustl.edu 37 19 54745497 54745497 + Missense_Mutation SNP G G A TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 19 54745497 54745497 G A SNP LILRA6 ENST00000270464 human ensembl 69_37n -1 known missense c.613 p.R205W 0.022 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LILRA6 HGNC ENSG00000244482 15 0 0.00 10 6 37.50 - - - MBD6 0 genome.wustl.edu 37 12 57921731 57921732 + Frame_Shift_Ins INS - - G TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 12 57921731 57921732 - G INS MBD6 ENST00000355673 human ensembl 69_37n +1 known frame_shift_ins c.2337_2338 p.A782fs 1.000:1.000 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 8 0 0.00 14 3 17.65 - - - MDN1 0 genome.wustl.edu 37 6 90402292 90402292 + Missense_Mutation SNP C C G TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 6 90402292 90402292 C G SNP MDN1 ENST00000369393 human ensembl 69_37n -1 known missense c.10457 p.G3486A 0.234 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 52 0 0.00 60 43 41.75 - - - MST1P9 0 genome.wustl.edu 37 1 17083888 17083888 + Missense_Mutation SNP C C T TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 1 17083888 17083888 C T SNP MST1P9 ENST00000334998 human ensembl 69_37n -1 known missense c.1909 p.G637S 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 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 33 0 0.00 30 6 16.67 - - - MUC2 0 genome.wustl.edu 37 11 1090919 1090919 + Missense_Mutation SNP A A C TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 11 1090919 1090919 A C SNP MUC2 ENST00000441003 human ensembl 69_37n +1 known missense c.3814 p.T1272P 0.002 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 27 0 0.00 28 10 26.32 - - - NR4A3 0 genome.wustl.edu 37 9 102626006 102626006 + Missense_Mutation SNP G G A TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 9 102626006 102626006 G A SNP NR4A3 ENST00000330847 human ensembl 69_37n +1 known missense c.1771 p.E591K 0.977 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_NOR1_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NOR1_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors NR4A3 HGNC ENSG00000119508 194 0 0.00 142 72 33.64 - - - OR2T2 0 genome.wustl.edu 37 1 248616883 248616883 + Missense_Mutation SNP T T A TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 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 0.00 173 24 12.12 - - - OR6P1 0 genome.wustl.edu 37 1 158532693 158532693 + Silent SNP G G C TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 1 158532693 158532693 G C SNP OR6P1 ENST00000334632 human ensembl 69_37n -1 known silent c.702 p.R234 0.006 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6P1 HGNC ENSG00000186440 101 0 0.00 170 51 23.08 - - - ORM2 0 genome.wustl.edu 37 9 117092701 117092701 + Missense_Mutation SNP C C A TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 9 117092701 117092701 C A SNP ORM2 ENST00000412657 human ensembl 69_37n +1 known missense c.517 p.P173T 0.000 NULL NULL - no_errors ORM2 HGNC ENSG00000228278 71 0 0.00 58 12 17.14 - - - PIWIL1 0 genome.wustl.edu 37 12 130827144 130827144 + Missense_Mutation SNP G G A TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 12 130827144 130827144 G A SNP PIWIL1 ENST00000245255 human ensembl 69_37n +1 known missense c.8 p.G3E 1.000 pfam_GAGE pfam_Piwi,pfam_PAZ,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL1 HGNC ENSG00000125207 97 0 0.00 69 25 26.60 - - - PLAU 0 genome.wustl.edu 37 10 75673437 75673438 + Frame_Shift_Ins INS - - G TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 10 75673437 75673438 - G INS PLAU ENST00000372764 human ensembl 69_37n +1 known frame_shift_ins c.601_602 p.S204fs 0.156:0.201 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Kringle,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PLAU HGNC ENSG00000122861 24 0 0.00 23 3 11.54 - - - POC5 0 genome.wustl.edu 37 5 74998503 74998503 + Missense_Mutation SNP C C A TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 5 74998503 74998503 C A SNP POC5 ENST00000428202 human ensembl 69_37n -1 known missense c.440 p.S147I 0.000 NULL NULL - no_errors POC5 HGNC ENSG00000152359 292 0 0.00 168 127 43.05 - - - RIF1 0 genome.wustl.edu 37 2 152320145 152320145 + Missense_Mutation SNP A A T TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 2 152320145 152320145 A T SNP RIF1 ENST00000243326 human ensembl 69_37n +1 known missense c.4111 p.N1371Y 0.024 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 70 0 0.00 35 31 46.97 - - - RP1L1 0 genome.wustl.edu 37 8 10466220 10466220 + Silent SNP G G T TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 8 10466220 10466220 G T SNP RP1L1 ENST00000382483 human ensembl 69_37n -1 known silent c.5388 p.G1796 0.000 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 151 0 0.00 37 26 41.27 - - - SCAF1 0 genome.wustl.edu 37 19 50158041 50158042 + Frame_Shift_Ins INS - - C TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 19 50158041 50158042 - C INS SCAF1 ENST00000360565 human ensembl 69_37n +1 known frame_shift_ins c.3532_3533 p.T1181fs 0.839:0.934 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 34 0 0.00 38 6 13.64 - - - SERPINA1 0 genome.wustl.edu 37 14 94845800 94845800 + Splice_Site SNP C C T TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 14 94845800 94845800 C T SNP SERPINA1 ENST00000355814 human ensembl 69_37n -1 known splice_site c.1065+1 e3+1 1.000 - - - no_errors SERPINA1 HGNC ENSG00000197249 79 0 0.00 77 55 41.67 - - - SMARCC2 0 genome.wustl.edu 37 12 56559112 56559113 + Frame_Shift_Ins INS - - G TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 12 56559112 56559113 - G INS SMARCC2 ENST00000267064 human ensembl 69_37n -1 known frame_shift_ins c.3129_3128 p.G1044fs 1.000:1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 19 0 0.00 34 4 10.53 - - - SPATA22 0 genome.wustl.edu 37 17 3346557 3346557 + Missense_Mutation SNP C C A TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 17 3346557 3346557 C A SNP SPATA22 ENST00000397168 human ensembl 69_37n -1 known missense c.811 p.D271Y 0.994 NULL NULL - no_errors SPATA22 HGNC ENSG00000141255 99 0 0.00 48 17 26.15 - - - TUBBP5 0 genome.wustl.edu 37 9 141070909 141070909 + RNA SNP A A G TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 9 141070909 141070909 A G SNP TUBBP5 ENST00000290377 human ensembl 69_37n +1 known rna NULL NULL 0.988 - - - no_errors TUBBP5 HGNC ENSG00000159247 48 0 0.00 23 8 25.81 - - - ZNF324 0 genome.wustl.edu 37 19 58983206 58983206 + Silent SNP C C T TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 19 58983206 58983206 C T SNP ZNF324 ENST00000196482 human ensembl 69_37n +1 known silent c.1347 p.G449 0.023 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 ZNF324 HGNC ENSG00000083812 9 0 0.00 9 6 40.00 - - - ZNF420 0 genome.wustl.edu 37 19 37619086 37619086 + Missense_Mutation SNP A A G TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 19 37619086 37619086 A G SNP ZNF420 ENST00000337995 human ensembl 69_37n +1 known missense c.1193 p.K398R 0.995 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 ZNF420 HGNC ENSG00000197050 139 0 0.00 128 76 37.25 - - - ZNF443 0 genome.wustl.edu 37 19 12541421 12541421 + Missense_Mutation SNP T T C TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 19 12541421 12541421 T C SNP ZNF443 ENST00000301547 human ensembl 69_37n -1 known missense c.1565 p.H522R 0.452 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 ZNF443 HGNC ENSG00000180855 189 0 0.00 174 96 35.56 - - - ZNF606 0 genome.wustl.edu 37 19 58489891 58489891 + Missense_Mutation SNP C C G TCGA-BH-A0HU-01A-11W-A050-09 TCGA-BH-A0HU-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b46f2619-5937-4847-bb38-fe6022225ab9 630a5659-c666-4da0-bb90-969cf071fde3 19 58489891 58489891 C G SNP ZNF606 ENST00000341164 human ensembl 69_37n -1 known missense c.2157 p.E719D 0.999 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 ZNF606 HGNC ENSG00000166704 330 0 0.00 300 82 21.47 - - -