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 ABCA13 0 genome.wustl.edu 37 7 48431660 48431660 + Missense_Mutation SNP C C T TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 7 48431660 48431660 C T SNP ABCA13 ENST00000435803 human ensembl 69_37n +1 known missense c.11797 p.R3933W 0.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 77 0 0.00 49 10 16.95 - - - ABCA9 0 genome.wustl.edu 37 17 67023189 67023189 + Frame_Shift_Del DEL G G - TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 17 67023189 67023189 G - DEL ABCA9 ENST00000340001 human ensembl 69_37n -1 known frame_shift_del c.1978 p.L660fs 0.990 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 39 0 0.00 32 6 15.79 - - - ADSSL1 0 genome.wustl.edu 37 14 105207543 105207543 + Silent SNP G G A TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 14 105207543 105207543 G A SNP ADSSL1 ENST00000332972 human ensembl 69_37n +1 known silent c.885 p.V295 1.000 pfam_Adenylosuccinate_synthetase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase pfam_Adenylosuccinate_synthetase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase - no_errors ADSSL1 HGNC ENSG00000185100 82 0 0.00 62 12 16.22 - - - AFP 0 genome.wustl.edu 37 4 74321366 74321366 + Missense_Mutation SNP G G A TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 4 74321366 74321366 G A SNP AFP ENST00000226359 human ensembl 69_37n +1 putative missense c.1804 p.E602K 0.000 superfamily_Serum_albumin-like,pirsf_Serum_albumin_subgr pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr,prints_Alpha-fetoprotein,prints_Serum_albumin - no_errors AFP HGNC ENSG00000081051 75 0 0.00 84 15 15.15 - - - AFP 0 genome.wustl.edu 37 4 74321384 74321384 + Nonsense_Mutation SNP G G T TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 4 74321384 74321384 G T SNP AFP ENST00000226359 human ensembl 69_37n +1 putative nonsense c.1822 p.E608* 0.004 pirsf_Serum_albumin_subgr pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr,prints_Alpha-fetoprotein,prints_Serum_albumin - no_errors AFP HGNC ENSG00000081051 82 0 0.00 90 18 16.67 - - - ALDH16A1 0 genome.wustl.edu 37 19 49973687 49973687 + Missense_Mutation SNP C C T TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 19 49973687 49973687 C T SNP ALDH16A1 ENST00000293350 human ensembl 69_37n +1 known missense c.2372 p.A791V 0.993 pirsf_Aldehyde_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH - no_errors ALDH16A1 HGNC ENSG00000161618 50 0 0.00 80 19 19.19 - - - ANKRD65 0 genome.wustl.edu 37 1 1354749 1354749 + Missense_Mutation SNP G G A TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 1 1354749 1354749 G A SNP ANKRD65 ENST00000537107 human ensembl 69_37n -1 known missense c.931 p.R311W 0.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD65 HGNC ENSG00000235098 128 0 0.00 114 16 12.31 - - - C10orf90 0 genome.wustl.edu 37 10 128209867 128209867 + Splice_Site DEL C C - TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 10 128209867 128209867 C - DEL C10orf90 ENST00000284694 human ensembl 69_37n -1 known splice_site_del c.22+1 e1+1 0.998 - - - no_errors C10orf90 HGNC ENSG00000154493 49 0 0.00 38 7 15.56 - - - C17orf104 0 genome.wustl.edu 37 17 42751400 42751400 + Missense_Mutation SNP C C A TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 17 42751400 42751400 C A SNP C17orf104 ENST00000409122 human ensembl 69_37n +1 known missense c.2695 p.R899S 1.000 NULL NULL - no_errors C17orf104 HGNC ENSG00000180336 76 0 0.00 37 31 45.59 - - - C1orf127 0 genome.wustl.edu 37 1 11024262 11024262 + Missense_Mutation SNP G G A TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 1 11024262 11024262 G A SNP C1orf127 ENST00000377004 human ensembl 69_37n -1 known missense c.439 p.R147C 0.029 NULL superfamily_DNA-bd_dom_put - no_errors C1orf127 HGNC ENSG00000175262 111 0 0.00 70 19 21.35 - - - C4orf21 0 genome.wustl.edu 37 4 113508772 113508772 + Silent SNP C C T TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 4 113508772 113508772 C T SNP C4orf21 ENST00000505019 human ensembl 69_37n -1 known silent c.3441 p.L1147 1.000 NULL pfam_DUF2439,pfam_Znf_GRF - no_errors C4orf21 HGNC ENSG00000138658 34 0 0.00 25 8 24.24 - - - C9orf9 0 genome.wustl.edu 37 9 135759367 135759367 + Silent SNP C C T TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 9 135759367 135759367 C T SNP C9orf9 ENST00000356311 human ensembl 69_37n +1 known silent c.33 p.I11 0.140 NULL NULL - no_errors C9orf9 HGNC ENSG00000165698 60 0 0.00 34 4 10.53 - - - CARS 0 genome.wustl.edu 37 11 3059366 3059366 + Nonsense_Mutation SNP G G A TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 11 3059366 3059366 G A SNP CARS ENST00000380525 human ensembl 69_37n -1 known nonsense c.715 p.Q239* 0.004 pfam_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-synt pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-synt - no_errors CARS HGNC ENSG00000110619 76 0 0.00 61 7 10.29 - - - CCNB3 0 genome.wustl.edu 37 X 50053142 50053142 + Nonsense_Mutation SNP C C G TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b X 50053142 50053142 C G SNP CCNB3 ENST00000276014 human ensembl 69_37n +1 known nonsense c.1973 p.S658* 0.000 NULL pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 42 0 0.00 33 7 17.50 - - - CDH1 0 genome.wustl.edu 37 16 68842658 68842659 + Frame_Shift_Ins INS - - A TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 16 68842658 68842659 - A INS CDH1 ENST00000261769 human ensembl 69_37n +1 known frame_shift_ins c.594_595 p.T198fs 0.121:0.000 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 - no_errors CDH1 HGNC ENSG00000039068 55 0 0.00 9 6 40.00 - - - CELSR1 0 genome.wustl.edu 37 22 46930419 46930419 + Missense_Mutation SNP G G C TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 22 46930419 46930419 G C SNP CELSR1 ENST00000454637 human ensembl 69_37n -1 putative missense c.773 p.S258W 0.064 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_EGF-like_dom,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,pfscan_EG-like_dom,pfscan_Cadherin,prints_Cadherin - pseudogene:no_stop_codon:bad_bp_length_for_coding_region CELSR1 HGNC ENSG00000075275 223 0 0.00 111 15 11.90 - - - CENPO 0 genome.wustl.edu 37 2 25038422 25038422 + Missense_Mutation SNP G G C TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 2 25038422 25038422 G C SNP CENPO ENST00000260662 human ensembl 69_37n +1 known missense c.391 p.E131Q 1.000 pfam_Centromere_CenpO pfam_Centromere_CenpO - no_errors CENPO HGNC ENSG00000138092 112 0 0.00 72 19 20.88 - - - CNTNAP4 0 genome.wustl.edu 37 16 76592633 76592633 + RNA SNP G G A TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 16 76592633 76592633 G A SNP CNTNAP4 ENST00000469589 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors CNTNAP4 HGNC ENSG00000152910 36 0 0.00 22 3 12.00 - - - COBLL1 0 genome.wustl.edu 37 2 165542501 165542501 + Silent SNP T T C TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 2 165542501 165542501 T C SNP COBLL1 ENST00000194871 human ensembl 69_37n -1 known silent c.3657 p.S1219 0.535 NULL pfam_Cordon-bleu_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 52 0 0.00 36 4 10.00 - - - COL11A2 0 genome.wustl.edu 37 6 33133527 33133527 + Missense_Mutation SNP C C A TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 6 33133527 33133527 C A SNP COL11A2 ENST00000341947 human ensembl 69_37n -1 known missense c.4549 p.D1517Y 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 32 0 0.00 25 12 32.43 - - - DDIT4 0 genome.wustl.edu 37 10 74033832 74033832 + RNA SNP C C T TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 10 74033832 74033832 C T SNP DDIT4 ENST00000473155 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors DDIT4 HGNC ENSG00000168209 31 0 0.00 13 7 33.33 - - - DENND2D 0 genome.wustl.edu 37 1 111731934 111731934 + RNA SNP T T C TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 1 111731934 111731934 T C SNP DENND2D ENST00000468692 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors DENND2D HGNC ENSG00000162777 41 0 0.00 30 8 21.05 - - - DGKK 0 genome.wustl.edu 37 X 50129373 50129373 + RNA SNP A A G TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b X 50129373 50129373 A G SNP DGKK ENST00000376025 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors DGKK HGNC ENSG00000204466 131 0 0.00 54 30 35.71 - - - DHDH 0 genome.wustl.edu 37 19 49439288 49439288 + Splice_Site SNP G G C TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 19 49439288 49439288 G C SNP DHDH ENST00000221403 human ensembl 69_37n +1 known splice_site c.203-1 e3-1 1.000 - - - no_errors DHDH HGNC ENSG00000104808 105 0 0.00 106 30 22.06 - - - ELK4 0 genome.wustl.edu 37 1 205589824 205589824 + Missense_Mutation SNP G G T TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 1 205589824 205589824 G T SNP ELK4 ENST00000357992 human ensembl 69_37n -1 known missense c.350 p.S117Y 0.967 NULL pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ELK4 HGNC ENSG00000158711 56 0 0.00 46 11 19.30 - - - EPRS 0 genome.wustl.edu 37 1 220197789 220197789 + Missense_Mutation SNP C C T TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 1 220197789 220197789 C T SNP EPRS ENST00000366923 human ensembl 69_37n -1 known missense c.760 p.E254K 1.000 pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Glu-tRNA-synth_Ib_arc/euk pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_synth_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_synth_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-synth_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk - no_errors EPRS HGNC ENSG00000136628 41 0 0.00 60 13 17.81 - - - EXOG 0 genome.wustl.edu 37 3 38537966 38537966 + Silent SNP G G A TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 3 38537966 38537966 G A SNP EXOG ENST00000287675 human ensembl 69_37n +1 known silent c.108 p.L36 0.135 NULL pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A - no_errors EXOG HGNC ENSG00000157036 183 0 0.00 151 65 29.95 - - - FAM82A1 0 genome.wustl.edu 37 2 38201314 38201314 + Missense_Mutation SNP G G T TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 2 38201314 38201314 G T SNP FAM82A1 ENST00000234195 human ensembl 69_37n +1 known missense c.1118 p.G373V 0.001 NULL NULL - no_errors FAM82A1 HGNC ENSG00000115841 32 0 0.00 34 4 10.53 - - - FER1L4 0 genome.wustl.edu 37 20 34191783 34191783 + RNA SNP C C T TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 20 34191783 34191783 C T SNP FER1L4 ENST00000430275 human ensembl 69_37n -1 known rna NULL NULL 0.998 - - - no_errors FER1L4 HGNC ENSG00000088340 58 0 0.00 33 9 21.43 - - - FLG2 0 genome.wustl.edu 37 1 152325695 152325695 + Missense_Mutation SNP C C T TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 1 152325695 152325695 C T SNP FLG2 ENST00000388718 human ensembl 69_37n -1 known missense c.4567 p.G1523S 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 189 1 0.52 243 54 18.12 - - - FXYD5 0 genome.wustl.edu 37 19 35650472 35650473 + Frame_Shift_Ins INS - - T TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 19 35650472 35650473 - T INS FXYD5 ENST00000392218 human ensembl 69_37n +1 novel frame_shift_ins c.253_254 p.S86fs 0.001:0.001 NULL NULL - no_errors FXYD5 HGNC ENSG00000089327 83 0 0.00 46 16 25.81 - - - GRM7 0 genome.wustl.edu 37 3 7732913 7732913 + Silent SNP C C T TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 3 7732913 7732913 C T SNP GRM7 ENST00000389335 human ensembl 69_37n +1 known silent c.2715 p.L905 0.000 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 85 0 0.00 51 20 28.17 - - - GRM7 0 genome.wustl.edu 37 3 7735320 7735320 + Missense_Mutation SNP G G C TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 3 7735320 7735320 G C SNP GRM7 ENST00000389336 human ensembl 69_37n +1 known missense c.2699 p.S900T 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 51 0 0.00 33 7 17.07 - - - HACL1 0 genome.wustl.edu 37 3 15642907 15642907 + Nonsense_Mutation SNP G G A TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 3 15642907 15642907 G A SNP HACL1 ENST00000321169 human ensembl 69_37n -1 known nonsense c.64 p.Q22* 0.997 pfam_Thiamin_PyroP_enz_TPP-bd_dom pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_Thiamin_PyroP_enz_cen_dom,pfam_TPP_enzyme-bd_C,pfam_CO_DH_CoA_synth - no_errors HACL1 HGNC ENSG00000131373 88 0 0.00 53 7 11.67 - - - IL4I1 0 genome.wustl.edu 37 19 50397597 50397597 + Silent SNP C C T TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 19 50397597 50397597 C T SNP IL4I1 ENST00000341114 human ensembl 69_37n -1 known silent c.561 p.K187 0.948 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_AlaDH/PNT_NAD(H)-bd,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors IL4I1 HGNC ENSG00000104951 88 0 0.00 30 13 30.23 - - - JUNB 0 genome.wustl.edu 37 19 12902831 12902831 + Silent SNP C C T TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 19 12902831 12902831 C T SNP JUNB ENST00000302754 human ensembl 69_37n +1 known silent c.246 p.L82 0.979 pfam_JNK pfam_JNK,pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUNB HGNC ENSG00000171223 75 0 0.00 58 13 18.31 - - - KIAA0146 0 genome.wustl.edu 37 8 48353017 48353017 + Missense_Mutation SNP G G A TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 8 48353017 48353017 G A SNP KIAA0146 ENST00000297423 human ensembl 69_37n +1 known missense c.1010 p.G337E 0.000 NULL NULL - no_errors KIAA0146 HGNC ENSG00000164808 65 0 0.00 51 10 16.39 - - - KIAA0355 0 genome.wustl.edu 37 19 34832781 34832781 + Missense_Mutation SNP G G A TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 19 34832781 34832781 G A SNP KIAA0355 ENST00000299505 human ensembl 69_37n +1 known missense c.1942 p.E648K 1.000 NULL NULL - no_errors KIAA0355 HGNC ENSG00000166398 98 0 0.00 44 15 25.42 - - - KNTC1 0 genome.wustl.edu 37 12 123022922 123022922 + Missense_Mutation SNP G G A TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 12 123022922 123022922 G A SNP KNTC1 ENST00000333479 human ensembl 69_37n +1 known missense c.287 p.G96E 1.000 superfamily_WD40_repeat_dom pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 49 0 0.00 14 11 44.00 - - - KRT16P3 0 genome.wustl.edu 37 17 20405802 20405802 + RNA SNP T T C TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 17 20405802 20405802 T C SNP KRT16P3 ENST00000580621 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors KRT16P3 HGNC ENSG00000214822 32 0 0.00 51 7 12.07 - - - L1TD1 0 genome.wustl.edu 37 1 62676024 62676024 + Silent SNP C C T TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 1 62676024 62676024 C T SNP L1TD1 ENST00000498273 human ensembl 69_37n +1 known silent c.1578 p.H526 0.001 NULL pfam_Transposase_22,superfamily_STAT_TF_coiled-coil - no_errors L1TD1 HGNC ENSG00000240563 34 0 0.00 29 4 12.12 - - - LILRB1 0 genome.wustl.edu 37 19 55144014 55144014 + Missense_Mutation SNP G G A TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 19 55144014 55144014 G A SNP LILRB1 ENST00000324602 human ensembl 69_37n +1 known missense c.761 p.R254K 0.006 smart_Ig_sub,smart_Ig_sub2 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LILRB1 HGNC ENSG00000104972 120 0 0.00 123 44 26.35 - - - LTN1 0 genome.wustl.edu 37 21 30342948 30342948 + Silent SNP G G A TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 21 30342948 30342948 G A SNP LTN1 ENST00000361371 human ensembl 69_37n -1 known silent c.1101 p.I367 1.000 superfamily_ARM-type_fold pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 70 0 0.00 49 19 27.94 - - - MACC1 0 genome.wustl.edu 37 7 20193845 20193845 + Nonsense_Mutation SNP G G A TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 7 20193845 20193845 G A SNP MACC1 ENST00000332878 human ensembl 69_37n -1 known nonsense c.2317 p.R773* 0.648 NULL pfam_SH3_2,superfamily_DEATH-like - no_errors MACC1 HGNC ENSG00000183742 43 0 0.00 30 10 25.00 - - - MUC1 0 genome.wustl.edu 37 1 155162590 155162590 + Silent SNP G G A TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 1 155162590 155162590 G A SNP MUC1 ENST00000425082 human ensembl 69_37n -1 known silent c.45 p.L15 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC1 HGNC ENSG00000185499 88 0 0.00 68 14 17.07 - - - NAF1 0 genome.wustl.edu 37 4 164085408 164085408 + Missense_Mutation SNP C C G TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 4 164085408 164085408 C G SNP NAF1 ENST00000274054 human ensembl 69_37n -1 known missense c.501 p.K167N 1.000 NULL pfam_H/ACA_rnp_Gar1/Naf1,superfamily_Transl_elong_init/rib_B-barrel - no_errors NAF1 HGNC ENSG00000145414 24 0 0.00 24 5 17.24 - - - NBEAL2 0 genome.wustl.edu 37 3 47049023 47049023 + Missense_Mutation SNP G G A TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 3 47049023 47049023 G A SNP NBEAL2 ENST00000450053 human ensembl 69_37n +1 known missense c.7343 p.R2448Q 1.000 smart_WD40_repeat pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 34 0 0.00 31 4 11.43 - - - NEIL3 0 genome.wustl.edu 37 4 178274472 178274472 + Silent SNP C C T TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 4 178274472 178274472 C T SNP NEIL3 ENST00000264596 human ensembl 69_37n +1 known silent c.1050 p.L350 0.000 NULL pfam_Znf_GRF,pfam_DNA_glyclase/AP_lyase_DNA-bd,pfam_Znf_RanBP2,superfamily_Ribosomal_S13-like_H2TH,superfamily_DNA_glycosylase/AP_lyase_cat,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_Znf_DNA_glyclase/AP_lyase,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL3 HGNC ENSG00000109674 64 0 0.00 37 21 36.21 - - - NOTCH2 0 genome.wustl.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 GG GG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 1 120612003 120612004 GG - DEL NOTCH2 ENST00000256646 human ensembl 69_37n -1 known frame_shift_del c.18_17 p.P6fs 0.101:0.700 pirsf_Notch pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 43 0 0.00 78 19 19.39 - - - NTM 0 genome.wustl.edu 37 11 131781424 131781424 + Missense_Mutation SNP G G C TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 11 131781424 131781424 G C SNP NTM ENST00000374786 human ensembl 69_37n +1 known missense c.49 p.V17L 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors NTM HGNC ENSG00000182667 105 0 0.00 137 57 29.38 - - - NUP210 0 genome.wustl.edu 37 3 13378496 13378496 + RNA SNP C C T TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 3 13378496 13378496 C T SNP NUP210 ENST00000485755 human ensembl 69_37n -1 putative rna NULL NULL 0.000 - - - no_errors NUP210 HGNC ENSG00000132182 34 0 0.00 30 8 21.05 - - - OR8K5 0 genome.wustl.edu 37 11 55927147 55927147 + Missense_Mutation SNP A A T TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 11 55927147 55927147 A T SNP OR8K5 ENST00000313447 human ensembl 69_37n -1 known missense c.647 p.V216E 0.003 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 OR8K5 HGNC ENSG00000181752 41 0 0.00 34 15 30.61 - - - PDXDC1 0 genome.wustl.edu 37 16 15126771 15126771 + Frame_Shift_Del DEL A A - TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 16 15126771 15126771 A - DEL PDXDC1 ENST00000396410 human ensembl 69_37n +1 known frame_shift_del c.1625 p.N543fs 1.000 NULL pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors PDXDC1 HGNC ENSG00000179889 77 0 0.00 46 9 16.07 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 52 0 0.00 55 22 28.57 - - - PKP4 0 genome.wustl.edu 37 2 159481709 159481709 + Missense_Mutation SNP C C A TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 2 159481709 159481709 C A SNP PKP4 ENST00000389759 human ensembl 69_37n +1 known missense c.923 p.T308N 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP4 HGNC ENSG00000144283 29 0 0.00 25 15 37.50 - - - POMT1 0 genome.wustl.edu 37 9 134382847 134382847 + Nonsense_Mutation SNP G G T TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 9 134382847 134382847 G T SNP POMT1 ENST00000372228 human ensembl 69_37n +1 known nonsense c.373 p.E125* 1.000 pfam_Glyco_trans_39 pfam_Glyco_trans_39,pfam_MIR,superfamily_MIR,smart_MIR_motif,pfscan_MIR_motif - no_errors POMT1 HGNC ENSG00000130714 116 1 0.85 71 24 25.26 - - - POTEB 0 genome.wustl.edu 37 15 22077592 22077592 + Missense_Mutation SNP T T C TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 15 22077592 22077592 T C SNP POTEB ENST00000439682 human ensembl 69_37n -1 known missense c.638 p.E213G 0.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEB HGNC ENSG00000233917 9 0 0.00 11 7 38.89 - - - PRB2 0 genome.wustl.edu 37 12 11546686 11546686 + Missense_Mutation SNP C C T TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 12 11546686 11546686 C T SNP PRB2 ENST00000389362 human ensembl 69_37n -1 known missense c.326 p.R109Q 0.000 NULL NULL - no_errors PRB2 HGNC ENSG00000121335 85 0 0.00 142 17 10.69 - - - PRKAB1 0 genome.wustl.edu 37 12 120118061 120118061 + Silent SNP G G A TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 12 120118061 120118061 G A SNP PRKAB1 ENST00000229328 human ensembl 69_37n +1 known silent c.744 p.V248 1.000 pfam_AMP_prot_kin_bsu_interact-dom pfam_AMP_prot_kin_bsu_interact-dom,superfamily_Ig_E-set - no_errors PRKAB1 HGNC ENSG00000111725 79 0 0.00 17 7 29.17 - - - PTPN20A 0 genome.wustl.edu 37 10 46584514 46584514 + Silent SNP T T C TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 10 46584514 46584514 T C SNP PTPN20A ENST00000374339 human ensembl 69_37n -1 known silent c.501 p.E167 0.220 smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN20A HGNC ENSG00000204179 10 0 0.00 11 6 35.29 - - - PTPN20C 0 genome.wustl.edu 37 10 49291929 49291929 + Silent SNP T T C TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 10 49291929 49291929 T C SNP PTPN20C ENST00000316733 human ensembl 69_37n -1 known silent c.492 p.E164 0.490 smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_start_codon PTPN20C HGNC ENSG00000126542 42 0 0.00 49 6 10.91 - - - RBAK 0 genome.wustl.edu 37 7 5103887 5103887 + Missense_Mutation SNP G G T TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 7 5103887 5103887 G T SNP RBAK ENST00000353796 human ensembl 69_37n +1 known missense c.800 p.G267V 0.516 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 RBAK HGNC ENSG00000146587 31 0 0.00 25 8 24.24 - - - RGPD4 0 genome.wustl.edu 37 2 108499277 108499277 + Silent SNP G G A TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 2 108499277 108499277 G A SNP RGPD4 ENST00000354986 human ensembl 69_37n +1 known silent c.5214 p.T1738 0.990 pfam_GRIP,superfamily_GRIP,smart_GRIP,pfscan_GRIP pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 132 0 0.00 116 57 32.95 - - - RSPH1 0 genome.wustl.edu 37 21 43916278 43916278 + Missense_Mutation SNP C C G TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 21 43916278 43916278 C G SNP RSPH1 ENST00000291536 human ensembl 69_37n -1 known missense c.19 p.E7Q 1.000 NULL pfam_MORN,smart_MORN - no_errors RSPH1 HGNC ENSG00000160188 45 0 0.00 45 7 13.46 - - - SGCE 0 genome.wustl.edu 37 7 94257530 94257530 + Missense_Mutation SNP T T G TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 7 94257530 94257530 T G SNP SGCE ENST00000445866 human ensembl 69_37n -1 known missense c.374 p.K125T 1.000 pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg - no_errors SGCE HGNC ENSG00000127990 73 0 0.00 41 10 19.61 - - - SGSM1 0 genome.wustl.edu 37 22 25270489 25270489 + Missense_Mutation SNP G G A TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 22 25270489 25270489 G A SNP SGSM1 ENST00000400359 human ensembl 69_37n +1 known missense c.1399 p.E467K 0.907 NULL pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 79 0 0.00 30 14 31.82 - - - SLC26A2 0 genome.wustl.edu 37 5 149361212 149361212 + Frame_Shift_Del DEL T T - TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 5 149361212 149361212 T - DEL SLC26A2 ENST00000286298 human ensembl 69_37n +1 known frame_shift_del c.2056 p.C686fs 0.998 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A2 HGNC ENSG00000155850 53 0 0.00 28 5 14.71 - - - SLC35E1 0 genome.wustl.edu 37 19 16683056 16683056 + Silent SNP C C T TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 19 16683056 16683056 C T SNP SLC35E1 ENST00000409648 human ensembl 69_37n -1 known silent c.120 p.L40 1.000 NULL pfam_DUF250,pfam_DMT,pfam_UAA - no_errors SLC35E1 HGNC ENSG00000127526 33 0 0.00 71 19 21.11 - - - SLC35E1 0 genome.wustl.edu 37 19 16683100 16683100 + Missense_Mutation SNP C C T TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 19 16683100 16683100 C T SNP SLC35E1 ENST00000409648 human ensembl 69_37n -1 known missense c.76 p.E26K 1.000 NULL pfam_DUF250,pfam_DMT,pfam_UAA - no_errors SLC35E1 HGNC ENSG00000127526 16 0 0.00 35 14 28.57 - - - SLC39A3 0 genome.wustl.edu 37 19 2737421 2737421 + RNA DEL T T - TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 19 2737421 2737421 T - DEL SLC39A3 ENST00000590875 human ensembl 69_37n -1 known rna NULL NULL 0.018 - - - no_errors SLC39A3 HGNC ENSG00000141873 14 0 0.00 17 7 29.17 - - - SLC5A8 0 genome.wustl.edu 37 12 101581287 101581287 + Silent SNP G G C TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 12 101581287 101581287 G C SNP SLC5A8 ENST00000536262 human ensembl 69_37n -1 known silent c.840 p.L280 0.987 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A8 HGNC ENSG00000256870 32 0 0.00 12 5 29.41 - - - SLC6A10P 0 genome.wustl.edu 37 16 32890814 32890814 + RNA SNP C C T TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 16 32890814 32890814 C T SNP SLC6A10P ENST00000330048 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors SLC6A10P HGNC ENSG00000214617 167 0 0.00 165 42 20.29 - - - SMG1 0 genome.wustl.edu 37 16 18826809 18826809 + Silent SNP G G C TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 16 18826809 18826809 G C SNP SMG1 ENST00000389467 human ensembl 69_37n -1 known silent c.10470 p.L3490 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 61 0 0.00 31 13 29.55 - - - SNUPN 0 genome.wustl.edu 37 15 75913265 75913265 + Missense_Mutation SNP C C T TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 15 75913265 75913265 C T SNP SNUPN ENST00000371091 human ensembl 69_37n -1 known missense c.254 p.R85H 1.000 pfam_Snurportin-1_N,pirsf_Snurportin-1,pfscan_Importin-a_IBB pfam_Snurportin-1_N,pirsf_Snurportin-1,pfscan_Importin-a_IBB - no_errors SNUPN HGNC ENSG00000169371 53 0 0.00 49 8 14.04 - - - SNX27 0 genome.wustl.edu 37 1 151665018 151665018 + Silent SNP G G A TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 1 151665018 151665018 G A SNP SNX27 ENST00000368843 human ensembl 69_37n +1 known silent c.1347 p.T449 1.000 NULL pfam_Phox,pfam_PDZ,pfam_Ras-assoc,superfamily_Phox,superfamily_PDZ,smart_PDZ,smart_Phox,pfscan_PDZ,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX27 HGNC ENSG00000143376 88 0 0.00 66 19 22.35 - - - SPAM1 0 genome.wustl.edu 37 7 123599693 123599693 + Silent SNP C C G TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 7 123599693 123599693 C G SNP SPAM1 ENST00000340011 human ensembl 69_37n +1 known silent c.1200 p.L400 0.973 pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Glyco_hydro_56_PH20,prints_Hyaluronidase - no_errors SPAM1 HGNC ENSG00000106304 50 0 0.00 41 9 18.00 - - - SPANXN2 0 genome.wustl.edu 37 X 142795497 142795497 + Missense_Mutation SNP T T C TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b X 142795497 142795497 T C SNP SPANXN2 ENST00000370498 human ensembl 69_37n -1 known missense c.181 p.T61A 0.000 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXN2 HGNC ENSG00000203924 160 0 0.00 78 71 47.65 - - - SPATA13 0 genome.wustl.edu 37 13 24797937 24797937 + Missense_Mutation SNP G G A TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 13 24797937 24797937 G A SNP SPATA13 ENST00000382141 human ensembl 69_37n +1 known missense c.982 p.E328K 0.099 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SPATA13 HGNC ENSG00000182957 48 0 0.00 43 13 23.21 - - - TAS2R41 0 genome.wustl.edu 37 7 143175315 143175315 + Missense_Mutation SNP C C G TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 7 143175315 143175315 C G SNP TAS2R41 ENST00000408916 human ensembl 69_37n +1 known missense c.350 p.S117C 0.631 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R41 HGNC ENSG00000221855 62 0 0.00 60 23 27.71 - - - TK2 0 genome.wustl.edu 37 16 66547661 66547661 + Missense_Mutation SNP G G T TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 16 66547661 66547661 G T SNP TK2 ENST00000299697 human ensembl 69_37n -1 known missense c.798 p.S266R 0.002 pfam_Deoxynucleoside_kinase pfam_Deoxynucleoside_kinase - no_errors TK2 HGNC ENSG00000166548 41 0 0.00 25 5 16.67 - - - TMEM169 0 genome.wustl.edu 37 2 216965075 216965075 + Missense_Mutation SNP C C T TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 2 216965075 216965075 C T SNP TMEM169 ENST00000295658 human ensembl 69_37n +1 known missense c.704 p.S235L 1.000 NULL NULL - no_errors TMEM169 HGNC ENSG00000163449 64 0 0.00 51 12 19.05 - - - TNXB 0 genome.wustl.edu 37 6 32052279 32052279 + Missense_Mutation SNP G G A TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 6 32052279 32052279 G A SNP TNXB ENST00000375247 human ensembl 69_37n -1 known missense c.3356 p.S1119F 0.044 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 66 0 0.00 57 18 24.00 - - - TPST1 0 genome.wustl.edu 37 7 65705583 65705583 + Silent SNP C C A TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 7 65705583 65705583 C A SNP TPST1 ENST00000304842 human ensembl 69_37n +1 known silent c.171 p.L57 0.128 NULL pfam_Sulfotransferase_dom - no_errors TPST1 HGNC ENSG00000169902 67 0 0.00 29 19 39.58 - - - UCK2 0 genome.wustl.edu 37 1 165875181 165875181 + Silent SNP C C T TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 1 165875181 165875181 C T SNP UCK2 ENST00000367879 human ensembl 69_37n +1 known silent c.621 p.I207 0.958 pfam_PRK/URK,prints_Uridine_kinase,tigrfam_Uridine_kinase pfam_PRK/URK,pfam_Depp_CoAkinase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCK2 HGNC ENSG00000143179 125 0 0.00 109 37 25.34 - - - ZNF16 0 genome.wustl.edu 37 8 146157647 146157647 + Missense_Mutation SNP T T C TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 8 146157647 146157647 T C SNP ZNF16 ENST00000276816 human ensembl 69_37n -1 known missense c.526 p.T176A 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF16 HGNC ENSG00000170631 53 0 0.00 39 12 23.53 - - - ZNF202 0 genome.wustl.edu 37 11 123597676 123597676 + Missense_Mutation SNP C C T TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 11 123597676 123597676 C T SNP ZNF202 ENST00000336139 human ensembl 69_37n -1 known missense c.976 p.E326K 0.295 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF202 HGNC ENSG00000166261 37 0 0.00 23 6 20.69 - - - ZNF544 0 genome.wustl.edu 37 19 58772398 58772398 + Missense_Mutation SNP C C G TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 19 58772398 58772398 C G SNP ZNF544 ENST00000269829 human ensembl 69_37n +1 known missense c.426 p.F142L 0.001 NULL 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 ZNF544 HGNC ENSG00000198131 65 0 0.00 23 10 30.30 - - - ZNF544 0 genome.wustl.edu 37 19 58772895 58772895 + Missense_Mutation SNP C C A TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 19 58772895 58772895 C A SNP ZNF544 ENST00000269829 human ensembl 69_37n +1 known missense c.923 p.S308Y 0.001 NULL 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 ZNF544 HGNC ENSG00000198131 44 0 0.00 31 11 26.19 - - - ZNF544 0 genome.wustl.edu 37 19 58773563 58773563 + Nonsense_Mutation SNP C C T TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 19 58773563 58773563 C T SNP ZNF544 ENST00000269829 human ensembl 69_37n +1 known nonsense c.1591 p.Q531* 0.000 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 ZNF544 HGNC ENSG00000198131 32 0 0.00 26 9 25.71 - - - ZNF770 0 genome.wustl.edu 37 15 35273613 35273613 + Missense_Mutation SNP G G A TCGA-AC-A3W7-01A-11D-A228-09 TCGA-AC-A3W7-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d98bbae-0506-4428-99b1-c17109be2443 cfa4574d-c002-40e3-a7b5-f57a056ca98b 15 35273613 35273613 G A SNP ZNF770 ENST00000356321 human ensembl 69_37n -1 known missense c.2023 p.H675Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC ENSG00000198146 101 0 0.00 53 19 26.39 - - -