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 ADCY4 0 genome.wustl.edu 37 14 24800227 24800228 + Frame_Shift_Ins INS - - AC TCGA-A8-A0A4-01A-11W-A019-09 TCGA-A8-A0A4-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fc4d542-86ac-42bc-9fbb-272c23e6aa72 db493df5-6038-4dc3-8bc7-eab44d4d9dcb 14 24800227 24800228 - AC INS ADCY4 ENST00000310677 human ensembl 69_37n -1 known frame_shift_ins c.927_926 p.K310fs 0.998:1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY4 HGNC ENSG00000129467 42 0 0.00 20 1249 98.42 - - - ANGPTL7 0 genome.wustl.edu 37 1 11254592 11254592 + Silent SNP C C T TCGA-A8-A0A4-01A-11W-A019-09 TCGA-A8-A0A4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fc4d542-86ac-42bc-9fbb-272c23e6aa72 db493df5-6038-4dc3-8bc7-eab44d4d9dcb 1 11254592 11254592 C T SNP ANGPTL7 ENST00000376819 human ensembl 69_37n +1 known silent c.747 p.L249 1.000 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPTL7 HGNC ENSG00000171819 119 0 0.00 96 46 32.39 - - - C10orf120 0 genome.wustl.edu 37 10 124457723 124457723 + Silent SNP T T A TCGA-A8-A0A4-01A-11W-A019-09 TCGA-A8-A0A4-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fc4d542-86ac-42bc-9fbb-272c23e6aa72 db493df5-6038-4dc3-8bc7-eab44d4d9dcb 10 124457723 124457723 T A SNP C10orf120 ENST00000329446 human ensembl 69_37n -1 known silent c.534 p.G178 0.000 NULL NULL - no_errors C10orf120 HGNC ENSG00000183559 212 0 0.00 143 64 30.48 - - - C12orf56 0 genome.wustl.edu 37 12 64746720 64746720 + Missense_Mutation SNP C C A TCGA-A8-A0A4-01A-11W-A019-09 TCGA-A8-A0A4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fc4d542-86ac-42bc-9fbb-272c23e6aa72 db493df5-6038-4dc3-8bc7-eab44d4d9dcb 12 64746720 64746720 C A SNP C12orf56 ENST00000333722 human ensembl 69_37n -1 known missense c.369 p.R123S 0.836 NULL NULL - no_errors C12orf56 HGNC ENSG00000185306 82 0 0.00 115 49 29.88 - - - CDH1 0 genome.wustl.edu 37 16 68862203 68862204 + Frame_Shift_Ins INS - - C TCGA-A8-A0A4-01A-11W-A019-09 TCGA-A8-A0A4-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fc4d542-86ac-42bc-9fbb-272c23e6aa72 db493df5-6038-4dc3-8bc7-eab44d4d9dcb 16 68862203 68862204 - C INS CDH1 ENST00000261769 human ensembl 69_37n +1 known frame_shift_ins c.2291_2292 p.Q765fs 1.000:1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 122 0 0.00 110 72 39.56 - - - CIITA 0 genome.wustl.edu 37 16 10996535 10996535 + Silent SNP T T C TCGA-A8-A0A4-01A-11W-A019-09 TCGA-A8-A0A4-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fc4d542-86ac-42bc-9fbb-272c23e6aa72 db493df5-6038-4dc3-8bc7-eab44d4d9dcb 16 10996535 10996535 T C SNP CIITA ENST00000324288 human ensembl 69_37n +1 known silent c.649 p.L217 0.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC ENSG00000179583 118 0 0.00 77 34 30.63 - - - COMMD5 0 genome.wustl.edu 37 8 146076339 146076339 + Frame_Shift_Del DEL C C - TCGA-A8-A0A4-01A-11W-A019-09 TCGA-A8-A0A4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fc4d542-86ac-42bc-9fbb-272c23e6aa72 db493df5-6038-4dc3-8bc7-eab44d4d9dcb 8 146076339 146076339 C - DEL COMMD5 ENST00000450361 human ensembl 69_37n -1 known frame_shift_del c.385 p.V129fs 0.720 pfam_HCaRG pfam_HCaRG - no_errors COMMD5 HGNC ENSG00000170619 9 0 0.00 5 4 40.00 - - - DOCK3 0 genome.wustl.edu 37 3 51417603 51417604 + Frame_Shift_Ins INS - - C TCGA-A8-A0A4-01A-11W-A019-09 TCGA-A8-A0A4-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fc4d542-86ac-42bc-9fbb-272c23e6aa72 db493df5-6038-4dc3-8bc7-eab44d4d9dcb 3 51417603 51417604 - C INS DOCK3 ENST00000266037 human ensembl 69_37n +1 known frame_shift_ins c.5548_5549 p.A1853fs 0.453:0.115 NULL pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 16 0 0.00 3 2 40.00 - - - ESR2 0 genome.wustl.edu 37 14 64727440 64727440 + Missense_Mutation SNP G G A TCGA-A8-A0A4-01A-11W-A019-09 TCGA-A8-A0A4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fc4d542-86ac-42bc-9fbb-272c23e6aa72 db493df5-6038-4dc3-8bc7-eab44d4d9dcb 14 64727440 64727440 G A SNP ESR2 ENST00000341099 human ensembl 69_37n -1 known missense c.679 p.R227C 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Estrogen_rcpt_beta_N,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt - no_errors ESR2 HGNC ENSG00000140009 64 0 0.00 52 19 26.76 - - - FAM129A 0 genome.wustl.edu 37 1 184853799 184853799 + Frame_Shift_Del DEL A A - TCGA-A8-A0A4-01A-11W-A019-09 TCGA-A8-A0A4-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fc4d542-86ac-42bc-9fbb-272c23e6aa72 db493df5-6038-4dc3-8bc7-eab44d4d9dcb 1 184853799 184853799 A - DEL FAM129A ENST00000367511 human ensembl 69_37n -1 known frame_shift_del c.569 p.L190fs 0.063 NULL NULL - no_errors FAM129A HGNC ENSG00000135842 104 0 0.00 146 117 41.64 - - - IRF3 0 genome.wustl.edu 37 19 50165439 50165439 + Frame_Shift_Del DEL T T - TCGA-A8-A0A4-01A-11W-A019-09 TCGA-A8-A0A4-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fc4d542-86ac-42bc-9fbb-272c23e6aa72 db493df5-6038-4dc3-8bc7-eab44d4d9dcb 19 50165439 50165439 T - DEL IRF3 ENST00000309877 human ensembl 69_37n -1 known frame_shift_del c.748 p.M250fs 0.000 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF3 HGNC ENSG00000126456 65 0 0.00 47 37 44.05 - - - IRF3 0 genome.wustl.edu 37 19 50165449 50165449 + Frame_Shift_Del DEL T T - TCGA-A8-A0A4-01A-11W-A019-09 TCGA-A8-A0A4-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fc4d542-86ac-42bc-9fbb-272c23e6aa72 db493df5-6038-4dc3-8bc7-eab44d4d9dcb 19 50165449 50165449 T - DEL IRF3 ENST00000309877 human ensembl 69_37n -1 known frame_shift_del c.738 p.D247fs 0.945 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF3 HGNC ENSG00000126456 63 0 0.00 44 37 45.68 - - - IRF3 0 genome.wustl.edu 37 19 50165454 50165455 + Frame_Shift_Del DEL GT GT - TCGA-A8-A0A4-01A-11W-A019-09 TCGA-A8-A0A4-10A-01W-A021-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fc4d542-86ac-42bc-9fbb-272c23e6aa72 db493df5-6038-4dc3-8bc7-eab44d4d9dcb 19 50165454 50165455 GT - DEL IRF3 ENST00000309877 human ensembl 69_37n -1 known frame_shift_del c.733_732 p.L245fs 0.918:0.003 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF3 HGNC ENSG00000126456 61 0 0.00 45 37 45.12 - - - ITGA11 0 genome.wustl.edu 37 15 68624257 68624257 + Silent SNP G G A TCGA-A8-A0A4-01A-11W-A019-09 TCGA-A8-A0A4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fc4d542-86ac-42bc-9fbb-272c23e6aa72 db493df5-6038-4dc3-8bc7-eab44d4d9dcb 15 68624257 68624257 G A SNP ITGA11 ENST00000315757 human ensembl 69_37n -1 known silent c.1710 p.H570 0.985 pfam_FG-GAP,smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA11 HGNC ENSG00000137809 38 0 0.00 68 31 31.31 - - - LPAR4 0 genome.wustl.edu 37 X 78011420 78011420 + Nonsense_Mutation SNP G G T TCGA-A8-A0A4-01A-11W-A019-09 TCGA-A8-A0A4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fc4d542-86ac-42bc-9fbb-272c23e6aa72 db493df5-6038-4dc3-8bc7-eab44d4d9dcb X 78011420 78011420 G T SNP LPAR4 ENST00000373301 human ensembl 69_37n +1 known nonsense c.1054 p.E352* 1.000 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2Y5_purnocptor,prints_P2_purnocptor - no_errors LPAR4 HGNC ENSG00000147145 331 0 0.00 242 44 15.38 - - - LSS 0 genome.wustl.edu 37 21 47626622 47626623 + Frame_Shift_Ins INS - - C TCGA-A8-A0A4-01A-11W-A019-09 TCGA-A8-A0A4-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fc4d542-86ac-42bc-9fbb-272c23e6aa72 db493df5-6038-4dc3-8bc7-eab44d4d9dcb 21 47626622 47626623 - C INS LSS ENST00000356396 human ensembl 69_37n -1 known frame_shift_ins c.1528_1527 p.H509fs 0.000:0.000 superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase - no_errors LSS HGNC ENSG00000160285 28 0 0.00 15 2 11.76 - - - MAN2C1 0 genome.wustl.edu 37 15 75649184 75649184 + Silent SNP G G A TCGA-A8-A0A4-01A-11W-A019-09 TCGA-A8-A0A4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fc4d542-86ac-42bc-9fbb-272c23e6aa72 db493df5-6038-4dc3-8bc7-eab44d4d9dcb 15 75649184 75649184 G A SNP MAN2C1 ENST00000267978 human ensembl 69_37n -1 known silent c.2607 p.N869 0.978 pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2C1 HGNC ENSG00000140400 36 0 0.00 21 8 27.59 - - - MBD1 0 genome.wustl.edu 37 18 47796443 47796443 + Missense_Mutation SNP G G C TCGA-A8-A0A4-01A-11W-A019-09 TCGA-A8-A0A4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fc4d542-86ac-42bc-9fbb-272c23e6aa72 db493df5-6038-4dc3-8bc7-eab44d4d9dcb 18 47796443 47796443 G C SNP MBD1 ENST00000339998 human ensembl 69_37n -1 known missense c.1591 p.Q531E 0.001 NULL pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC - no_errors MBD1 HGNC ENSG00000141644 257 0 0.00 107 44 29.14 - - - NHSL2 0 genome.wustl.edu 37 X 71359816 71359816 + Silent SNP C C T TCGA-A8-A0A4-01A-11W-A019-09 TCGA-A8-A0A4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fc4d542-86ac-42bc-9fbb-272c23e6aa72 db493df5-6038-4dc3-8bc7-eab44d4d9dcb X 71359816 71359816 C T SNP NHSL2 ENST00000540800 human ensembl 69_37n +1 known silent c.2418 p.G806 0.005 NULL NULL - no_errors NHSL2 HGNC ENSG00000204131 84 0 0.00 44 20 31.25 - - - OR2L2 0 genome.wustl.edu 37 1 248202361 248202361 + Silent SNP G G A TCGA-A8-A0A4-01A-11W-A019-09 TCGA-A8-A0A4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fc4d542-86ac-42bc-9fbb-272c23e6aa72 db493df5-6038-4dc3-8bc7-eab44d4d9dcb 1 248202361 248202361 G A SNP OR2L2 ENST00000366479 human ensembl 69_37n +1 known silent c.792 p.L264 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR2L2 HGNC ENSG00000203663 441 0 0.00 254 124 32.72 - - - OSCP1 0 genome.wustl.edu 37 1 36887790 36887790 + Missense_Mutation SNP A A C TCGA-A8-A0A4-01A-11W-A019-09 TCGA-A8-A0A4-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fc4d542-86ac-42bc-9fbb-272c23e6aa72 db493df5-6038-4dc3-8bc7-eab44d4d9dcb 1 36887790 36887790 A C SNP OSCP1 ENST00000235532 human ensembl 69_37n -1 known missense c.780 p.H260Q 0.882 NULL pfam_OSCP1 - no_errors OSCP1 HGNC ENSG00000116885 64 0 0.00 97 35 26.52 - - - PLEKHG4B 0 genome.wustl.edu 37 5 163330 163331 + Frame_Shift_Del DEL CC CC - TCGA-A8-A0A4-01A-11W-A019-09 TCGA-A8-A0A4-10A-01W-A021-09 CC CC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fc4d542-86ac-42bc-9fbb-272c23e6aa72 db493df5-6038-4dc3-8bc7-eab44d4d9dcb 5 163330 163331 CC - DEL PLEKHG4B ENST00000283426 human ensembl 69_37n +1 known frame_shift_del c.2075_2076 p.A692fs 0.036:0.030 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4B HGNC ENSG00000153404 14 0 0.00 11 15 46.88 - - - PLXDC1 0 genome.wustl.edu 37 17 37235707 37235707 + RNA DEL G G - TCGA-A8-A0A4-01A-11W-A019-09 TCGA-A8-A0A4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fc4d542-86ac-42bc-9fbb-272c23e6aa72 db493df5-6038-4dc3-8bc7-eab44d4d9dcb 17 37235707 37235707 G - DEL PLXDC1 ENST00000493200 human ensembl 69_37n -1 known rna NULL NULL 0.002 - - - no_errors PLXDC1 HGNC ENSG00000161381 8 0 0.00 6 12 63.16 - - - PXDN 0 genome.wustl.edu 37 2 1653225 1653226 + Frame_Shift_Ins INS - - G TCGA-A8-A0A4-01A-11W-A019-09 TCGA-A8-A0A4-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fc4d542-86ac-42bc-9fbb-272c23e6aa72 db493df5-6038-4dc3-8bc7-eab44d4d9dcb 2 1653225 1653226 - G INS PXDN ENST00000252804 human ensembl 69_37n -1 known frame_shift_ins c.2327_2326 p.N776fs 1.000:1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like - no_errors PXDN HGNC ENSG00000130508 63 0 0.00 28 86 75.44 - - - SLC6A17 0 genome.wustl.edu 37 1 110740813 110740815 + In_Frame_Del DEL TCT TCT - TCGA-A8-A0A4-01A-11W-A019-09 TCGA-A8-A0A4-10A-01W-A021-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fc4d542-86ac-42bc-9fbb-272c23e6aa72 db493df5-6038-4dc3-8bc7-eab44d4d9dcb 1 110740813 110740815 TCT - DEL SLC6A17 ENST00000331565 human ensembl 69_37n +1 known in_frame_del c.1931_1933 p.LS644in_frame_delP 0.999:0.774:0.915 pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A17 HGNC ENSG00000197106 40 0 0.00 24 14 36.84 - - - SLK 0 genome.wustl.edu 37 10 105727649 105727650 + Frame_Shift_Ins INS - - T TCGA-A8-A0A4-01A-11W-A019-09 TCGA-A8-A0A4-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fc4d542-86ac-42bc-9fbb-272c23e6aa72 db493df5-6038-4dc3-8bc7-eab44d4d9dcb 10 105727649 105727650 - T INS SLK ENST00000369755 human ensembl 69_37n +1 known frame_shift_ins c.146_147 p.K50fs 1.000:1.000 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_PKK,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_UVR_dom,pfscan_Prot_kinase_cat_dom - no_errors SLK HGNC ENSG00000065613 71 0 0.00 15 17 53.12 - - - TBX3 0 genome.wustl.edu 37 12 115118894 115118895 + Frame_Shift_Ins INS - - T TCGA-A8-A0A4-01A-11W-A019-09 TCGA-A8-A0A4-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fc4d542-86ac-42bc-9fbb-272c23e6aa72 db493df5-6038-4dc3-8bc7-eab44d4d9dcb 12 115118894 115118895 - T INS TBX3 ENST00000257566 human ensembl 69_37n -1 known frame_shift_ins c.447_446 p.Y149fs 0.891:1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX3 HGNC ENSG00000135111 325 0 0.00 93 42 31.11 - - - THSD7B 0 genome.wustl.edu 37 2 137814797 137814797 + Missense_Mutation SNP T T C TCGA-A8-A0A4-01A-11W-A019-09 TCGA-A8-A0A4-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fc4d542-86ac-42bc-9fbb-272c23e6aa72 db493df5-6038-4dc3-8bc7-eab44d4d9dcb 2 137814797 137814797 T C SNP THSD7B ENST00000272643 human ensembl 69_37n +1 known missense c.947 p.L316S 1.000 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 160 0 0.00 44 19 30.16 - - - TLN2 0 genome.wustl.edu 37 15 63029121 63029121 + Nonsense_Mutation SNP C C T TCGA-A8-A0A4-01A-11W-A019-09 TCGA-A8-A0A4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fc4d542-86ac-42bc-9fbb-272c23e6aa72 db493df5-6038-4dc3-8bc7-eab44d4d9dcb 15 63029121 63029121 C T SNP TLN2 ENST00000306829 human ensembl 69_37n +1 known nonsense c.3403 p.Q1135* 1.000 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_ILWEQ,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ - no_errors TLN2 HGNC ENSG00000171914 48 0 0.00 43 78 64.46 - - - TNK1 0 genome.wustl.edu 37 17 7291812 7291812 + Frame_Shift_Del DEL G G - TCGA-A8-A0A4-01A-11W-A019-09 TCGA-A8-A0A4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fc4d542-86ac-42bc-9fbb-272c23e6aa72 db493df5-6038-4dc3-8bc7-eab44d4d9dcb 17 7291812 7291812 G - DEL TNK1 ENST00000576812 human ensembl 69_37n +1 known frame_shift_del c.1580 p.R527fs 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TNK1 HGNC ENSG00000174292 70 0 0.00 7 7 50.00 - - - TTC21B 0 genome.wustl.edu 37 2 166786867 166786867 + Missense_Mutation SNP C C T TCGA-A8-A0A4-01A-11W-A019-09 TCGA-A8-A0A4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fc4d542-86ac-42bc-9fbb-272c23e6aa72 db493df5-6038-4dc3-8bc7-eab44d4d9dcb 2 166786867 166786867 C T SNP TTC21B ENST00000243344 human ensembl 69_37n -1 known missense c.902 p.R301H 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21B HGNC ENSG00000123607 146 0 0.00 97 40 29.20 - - - TTN 0 genome.wustl.edu 37 2 179434772 179434772 + Missense_Mutation SNP G G A TCGA-A8-A0A4-01A-11W-A019-09 TCGA-A8-A0A4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fc4d542-86ac-42bc-9fbb-272c23e6aa72 db493df5-6038-4dc3-8bc7-eab44d4d9dcb 2 179434772 179434772 G A SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.68383 p.R22795C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 138 0 0.00 92 49 34.75 - - - UGGT1 0 genome.wustl.edu 37 2 128884987 128884987 + Missense_Mutation SNP A A G TCGA-A8-A0A4-01A-11W-A019-09 TCGA-A8-A0A4-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fc4d542-86ac-42bc-9fbb-272c23e6aa72 db493df5-6038-4dc3-8bc7-eab44d4d9dcb 2 128884987 128884987 A G SNP UGGT1 ENST00000259253 human ensembl 69_37n +1 known missense c.1187 p.N396S 1.000 NULL pfam_UDP-g_GGtrans - no_errors UGGT1 HGNC ENSG00000136731 69 0 0.00 49 32 39.51 - - - WNK2 0 genome.wustl.edu 37 9 96080102 96080102 + Frame_Shift_Del DEL A A - TCGA-A8-A0A4-01A-11W-A019-09 TCGA-A8-A0A4-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fc4d542-86ac-42bc-9fbb-272c23e6aa72 db493df5-6038-4dc3-8bc7-eab44d4d9dcb 9 96080102 96080102 A - DEL WNK2 ENST00000411624 human ensembl 69_37n +1 putative frame_shift_del c.5291 p.H1764fs 0.000 NULL pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region WNK2 HGNC ENSG00000165238 16 0 0.00 8 18 69.23 - - - WNK2 0 genome.wustl.edu 37 9 96080105 96080106 + Frame_Shift_Ins INS - - A TCGA-A8-A0A4-01A-11W-A019-09 TCGA-A8-A0A4-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1fc4d542-86ac-42bc-9fbb-272c23e6aa72 db493df5-6038-4dc3-8bc7-eab44d4d9dcb 9 96080105 96080106 - A INS WNK2 ENST00000411624 human ensembl 69_37n +1 putative frame_shift_ins c.5294_5295 p.W1766fs 0.001:0.004 NULL pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region WNK2 HGNC ENSG00000165238 16 0 0.00 7 18 72.00 - - -