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 AAK1 0 genome.wustl.edu 37 2 69870081 69870081 + Missense_Mutation SNP C C T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 2 69870081 69870081 C T SNP AAK1 ENST00000409085 human ensembl 69_37n -1 known missense c.92 p.G31D 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors AAK1 HGNC ENSG00000115977 28 0 0.00 14 8 34.78 - - - ADARB1 0 genome.wustl.edu 37 21 46596033 46596033 + Silent SNP G G A TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 21 46596033 46596033 G A SNP ADARB1 ENST00000360697 human ensembl 69_37n +1 known silent c.417 p.L139 1.000 pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd pfam_A_deamin,pfam_Ds-RNA-bd,superfamily_Cytokine_IL1-like,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin - no_errors ADARB1 HGNC ENSG00000197381 104 0 0.00 88 81 47.93 - - - ALKBH5 0 genome.wustl.edu 37 17 18088015 18088015 + Missense_Mutation SNP A A G TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 17 18088015 18088015 A G SNP ALKBH5 ENST00000399138 human ensembl 69_37n +1 known missense c.458 p.E153G 1.000 NULL NULL - no_errors ALKBH5 HGNC ENSG00000091542 17 0 0.00 16 9 36.00 - - - ANK3 0 genome.wustl.edu 37 10 61819102 61819102 + Missense_Mutation SNP C C T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 10 61819102 61819102 C T SNP ANK3 ENST00000280772 human ensembl 69_37n -1 known missense c.12682 p.D4228N 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 218 0 0.00 154 48 23.76 - - - ANP32E 0 genome.wustl.edu 37 1 150204143 150204143 + Missense_Mutation SNP C C T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 1 150204143 150204143 C T SNP ANP32E ENST00000314136 human ensembl 69_37n -1 known missense c.176 p.R59Q 0.911 NULL pfam_Leu-rich_rpt - no_errors ANP32E HGNC ENSG00000143401 133 0 0.00 240 37 13.31 - - - ARHGEF28 0 genome.wustl.edu 37 5 73178396 73178396 + Missense_Mutation SNP A A G TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 5 73178396 73178396 A G SNP ARHGEF28 ENST00000545377 human ensembl 69_37n +1 known missense c.2914 p.K972E 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,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 ARHGEF28 HGNC ENSG00000214944 47 0 0.00 30 13 30.23 - - - AUTS2 0 genome.wustl.edu 37 7 70255691 70255691 + Silent SNP G G A TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 7 70255691 70255691 G A SNP AUTS2 ENST00000342771 human ensembl 69_37n +1 known silent c.3489 p.E1163 1.000 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 36 0 0.00 28 20 41.67 - - - AZIN1 0 genome.wustl.edu 37 8 103841546 103841546 + Missense_Mutation SNP C C T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 8 103841546 103841546 C T SNP AZIN1 ENST00000337198 human ensembl 69_37n -1 known missense c.1189 p.D397N 0.998 pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn/DAP/Arg_de-COase pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase - no_errors AZIN1 HGNC ENSG00000155096 162 0 0.00 139 43 23.37 - - - BLK 0 genome.wustl.edu 37 8 11418950 11418950 + Missense_Mutation SNP C C T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 8 11418950 11418950 C T SNP BLK ENST00000259089 human ensembl 69_37n +1 known missense c.1169 p.T390M 0.911 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors BLK HGNC ENSG00000136573 109 0 0.00 28 22 44.00 - - - CD5L 0 genome.wustl.edu 37 1 157805906 157805906 + Missense_Mutation SNP C C T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 1 157805906 157805906 C T SNP CD5L ENST00000368174 human ensembl 69_37n -1 known missense c.95 p.R32H 0.807 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors CD5L HGNC ENSG00000073754 74 0 0.00 107 21 16.41 - - - CLDN10 0 genome.wustl.edu 37 13 96086159 96086159 + Silent SNP G G A TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 13 96086159 96086159 G A SNP CLDN10 ENST00000376873 human ensembl 69_37n +1 known silent c.72 p.T24 0.002 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin10 - no_errors CLDN10 HGNC ENSG00000134873 136 0 0.00 118 31 20.67 - - - COPS3 0 genome.wustl.edu 37 17 17163754 17163754 + Missense_Mutation SNP A A G TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 17 17163754 17163754 A G SNP COPS3 ENST00000268717 human ensembl 69_37n -1 known missense c.797 p.V266A 1.000 pfam_PCI_dom pfam_PCI_dom,smart_PCI_dom - no_errors COPS3 HGNC ENSG00000141030 353 0 0.00 240 134 35.64 - - - CRB2 0 genome.wustl.edu 37 9 126125420 126125420 + Missense_Mutation SNP G G A TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 9 126125420 126125420 G A SNP CRB2 ENST00000373631 human ensembl 69_37n +1 known missense c.371 p.R124H 0.325 pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_EGF-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB2 HGNC ENSG00000148204 23 0 0.00 9 6 40.00 - - - CXorf57 0 genome.wustl.edu 37 X 105855830 105855830 + Nonsense_Mutation SNP C C T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 X 105855830 105855830 C T SNP CXorf57 ENST00000372548 human ensembl 69_37n +1 known nonsense c.520 p.Q174* 0.000 superfamily_NA-bd_OB-fold-like superfamily_NA-bd_OB-fold-like - no_errors CXorf57 HGNC ENSG00000147231 41 0 0.00 42 19 31.15 - - - CYP4F24P 0 genome.wustl.edu 37 19 15872088 15872088 + RNA SNP C C T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 19 15872088 15872088 C T SNP CYP4F24P ENST00000589193 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors CYP4F24P HGNC ENSG00000267594 66 0 0.00 89 13 12.62 - - - DAOA 0 genome.wustl.edu 37 13 106142353 106142353 + Missense_Mutation SNP A A G TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 13 106142353 106142353 A G SNP DAOA ENST00000375936 human ensembl 69_37n +1 known missense c.385 p.M129V 0.005 NULL NULL - no_errors DAOA HGNC ENSG00000182346 100 0 0.00 75 32 29.91 - - - DLG3 0 genome.wustl.edu 37 X 69717042 69717042 + Missense_Mutation SNP C C A TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 X 69717042 69717042 C A SNP DLG3 ENST00000194900 human ensembl 69_37n +1 known missense c.1886 p.S629Y 1.000 superfamily_SH3_domain,pirsf_M-assoc_guanylate_kinase pfam_Guanylate_kin,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG3 HGNC ENSG00000082458 301 0 0.00 184 110 37.29 - - - DOCK9 0 genome.wustl.edu 37 13 99461377 99461377 + Silent SNP C C T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 13 99461377 99461377 C T SNP DOCK9 ENST00000376460 human ensembl 69_37n -1 known silent c.5373 p.A1791 1.000 NULL pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 75 0 0.00 35 12 25.53 - - - FAM166A 0 genome.wustl.edu 37 9 140142146 140142147 + Frame_Shift_Ins INS - - G TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 9 140142146 140142147 - G INS FAM166A ENST00000344774 human ensembl 69_37n -1 known frame_shift_ins c.22_21 p.D7fs 0.001:0.162 NULL pfam_UPF0573/UPF0605 - no_errors FAM166A HGNC ENSG00000188163 294 0 0.00 170 57 25.11 - - - FCHO2 0 genome.wustl.edu 37 5 72330517 72330517 + Missense_Mutation SNP G G T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 5 72330517 72330517 G T SNP FCHO2 ENST00000341845 human ensembl 69_37n +1 known missense c.830 p.S277I 1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_FCH,smart_FCH,pfscan_FCH - no_errors FCHO2 HGNC ENSG00000157107 144 0 0.00 101 34 25.19 - - - FRMD4B 0 genome.wustl.edu 37 3 69244205 69244205 + Missense_Mutation SNP T T G TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 3 69244205 69244205 T G SNP FRMD4B ENST00000398540 human ensembl 69_37n -1 known missense c.1456 p.K486Q 1.000 pfam_DUF3338 pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,pfscan_FERM_domain - no_errors FRMD4B HGNC ENSG00000114541 168 0 0.00 94 48 33.80 - - - GATA3 0 genome.wustl.edu 37 10 8111513 8111514 + Frame_Shift_Ins INS - - G TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 10 8111513 8111514 - G INS GATA3 ENST00000379328 human ensembl 69_37n +1 known frame_shift_ins c.1002_1003 p.D335fs 0.859:1.000 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 150 0 0.00 75 32 29.91 - - - GGT3P 0 genome.wustl.edu 37 22 18769201 18769201 + RNA SNP G G A TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 22 18769201 18769201 G A SNP GGT3P ENST00000412448 human ensembl 69_37n -1 known rna NULL NULL 0.098 - - - no_errors GGT3P HGNC ENSG00000197421 71 0 0.00 41 9 18.00 - - - GK2 0 genome.wustl.edu 37 4 80327945 80327945 + Silent SNP G G A TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 4 80327945 80327945 G A SNP GK2 ENST00000358842 human ensembl 69_37n -1 known silent c.1410 p.S470 0.000 tigrfam_Glycerol_kin pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin - no_errors GK2 HGNC ENSG00000196475 148 0 0.00 101 39 27.86 - - - GPC2 0 genome.wustl.edu 37 7 99773285 99773286 + Frame_Shift_Ins INS - - G TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 7 99773285 99773286 - G INS GPC2 ENST00000292377 human ensembl 69_37n -1 known frame_shift_ins c.558_557 p.D187fs 0.978:1.000 pfam_Glypican pfam_Glypican - no_errors GPC2 HGNC ENSG00000213420 55 0 0.00 40 16 28.57 - - - GPR126 0 genome.wustl.edu 37 6 142711398 142711398 + Missense_Mutation SNP G G A TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 6 142711398 142711398 G A SNP GPR126 ENST00000367609 human ensembl 69_37n +1 known missense c.1226 p.G409E 1.000 NULL pfam_GPCR_2_secretin-like,pfam_CUB,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB,superfamily_ConA-like_lec_gl,smart_CUB,smart_Pentaxin,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC ENSG00000112414 102 0 0.00 29 24 45.28 - - - GPR162 0 genome.wustl.edu 37 12 6936007 6936007 + Missense_Mutation SNP G G A TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 12 6936007 6936007 G A SNP GPR162 ENST00000311268 human ensembl 69_37n +1 known missense c.1405 p.E469K 0.089 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_GPCR_162,prints_GPCR_153/162 - no_errors GPR162 HGNC ENSG00000250510 83 0 0.00 53 21 28.38 - - - GRIN2A 0 genome.wustl.edu 37 16 9934570 9934570 + Missense_Mutation SNP C C A TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 16 9934570 9934570 C A SNP GRIN2A ENST00000330684 human ensembl 69_37n -1 known missense c.1585 p.V529L 1.000 pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 96 0 0.00 67 26 27.96 - - - GRIPAP1 0 genome.wustl.edu 37 X 48831588 48831588 + Silent SNP G G A TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 X 48831588 48831588 G A SNP GRIPAP1 ENST00000376441 human ensembl 69_37n -1 known silent c.2412 p.T804 1.000 NULL superfamily_Prefoldin - no_errors GRIPAP1 HGNC ENSG00000068400 109 0 0.00 55 14 20.29 - - - GRM4 0 genome.wustl.edu 37 6 34004103 34004103 + Missense_Mutation SNP G G A TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 6 34004103 34004103 G A SNP GRM4 ENST00000374181 human ensembl 69_37n -1 known missense c.1784 p.A595V 1.000 pfscan_GPCR_3_C 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_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B - no_errors GRM4 HGNC ENSG00000124493 41 0 0.00 25 15 37.50 - - - GRM6 0 genome.wustl.edu 37 5 178410025 178410025 + Silent SNP G G A TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 5 178410025 178410025 G A SNP GRM6 ENST00000231188 human ensembl 69_37n -1 known silent c.2322 p.G774 0.001 pfam_GPCR_3_C,prints_GPCR_3,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM6 HGNC ENSG00000113262 73 0 0.00 33 26 44.07 - - - HELT 0 genome.wustl.edu 37 4 185940105 185940105 + Missense_Mutation SNP G G T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 4 185940105 185940105 G T SNP HELT ENST00000338875 human ensembl 69_37n +1 known missense c.23 p.R8L 1.000 NULL pfam_HLH_DNA-bd,pfam_Orange,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_Orange,pfscan_HLH_DNA-bd - no_errors HELT HGNC ENSG00000187821 94 0 0.00 52 21 28.77 - - - HIST1H1E 0 genome.wustl.edu 37 6 26156678 26156680 + In_Frame_Del DEL GAA GAA - TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 6 26156678 26156680 GAA - DEL HIST1H1E ENST00000304218 human ensembl 69_37n +1 known in_frame_del c.60_62 p.K23in_frame_del 0.932:0.994:0.999 prints_Histone_H5 pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1E HGNC ENSG00000168298 17 0 0.00 6 5 45.45 - - - HS2ST1 0 genome.wustl.edu 37 1 87380793 87380793 + Missense_Mutation SNP T T G TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 1 87380793 87380793 T G SNP HS2ST1 ENST00000370550 human ensembl 69_37n +1 known missense c.74 p.L25R 1.000 NULL pfam_Sulfotransferase - no_errors HS2ST1 HGNC ENSG00000153936 122 1 0.81 67 28 29.17 - - - IRS4 0 genome.wustl.edu 37 X 107978764 107978764 + Missense_Mutation SNP C C T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 X 107978764 107978764 C T SNP IRS4 ENST00000372129 human ensembl 69_37n -1 known missense c.811 p.E271K 1.000 pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 52 0 0.00 30 15 33.33 - - - ITPR1 0 genome.wustl.edu 37 3 4699856 4699856 + Nonsense_Mutation SNP G G T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 3 4699856 4699856 G T SNP ITPR1 ENST00000302640 human ensembl 69_37n +1 known nonsense c.1000 p.E334* 1.000 pfam_MIR,superfamily_MIR,smart_MIR_motif,pfscan_MIR_motif pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 159 0 0.00 99 42 29.58 - - - KCNK13 0 genome.wustl.edu 37 14 90650490 90650490 + Nonsense_Mutation SNP A A T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 14 90650490 90650490 A T SNP KCNK13 ENST00000282146 human ensembl 69_37n +1 known nonsense c.370 p.K124* 1.000 pfam_Ion_trans_2,prints_2pore_dom_K_chnl pfam_Ion_trans_2,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK13 HGNC ENSG00000152315 164 0 0.00 132 46 25.84 - - - KIAA2022 0 genome.wustl.edu 37 X 73964215 73964215 + Missense_Mutation SNP C C T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 X 73964215 73964215 C T SNP KIAA2022 ENST00000055682 human ensembl 69_37n -1 known missense c.177 p.M59I 0.025 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 153 0 0.00 108 43 28.29 - - - KNDC1 0 genome.wustl.edu 37 10 135020748 135020748 + Silent SNP C C T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 10 135020748 135020748 C T SNP KNDC1 ENST00000368572 human ensembl 69_37n +1 known silent c.3693 p.S1231 0.999 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 25 0 0.00 16 8 33.33 - - - KRT18 0 genome.wustl.edu 37 12 53344579 53344579 + Silent SNP C C A TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 12 53344579 53344579 C A SNP KRT18 ENST00000388835 human ensembl 69_37n +1 known silent c.546 p.I182 0.970 pfam_F,prints_Keratin_I pfam_F,prints_Keratin_I - no_errors KRT18 HGNC ENSG00000111057 41 0 0.00 32 16 33.33 - - - KRT76 0 genome.wustl.edu 37 12 53167402 53167402 + Silent SNP G G A TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 12 53167402 53167402 G A SNP KRT76 ENST00000332411 human ensembl 69_37n -1 known silent c.840 p.R280 0.977 pfam_F,prints_Keratin_II pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT76 HGNC ENSG00000185069 168 0 0.00 87 43 32.82 - - - MAEL 0 genome.wustl.edu 37 1 166974325 166974325 + Missense_Mutation SNP A A G TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 1 166974325 166974325 A G SNP MAEL ENST00000367872 human ensembl 69_37n +1 known missense c.661 p.T221A 0.999 superfamily_CH-domain pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_CH-domain - no_errors MAEL HGNC ENSG00000143194 115 0 0.00 134 29 17.68 - - - MAGI2 0 genome.wustl.edu 37 7 77789453 77789453 + Missense_Mutation SNP C C T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 7 77789453 77789453 C T SNP MAGI2 ENST00000354212 human ensembl 69_37n -1 known missense c.2734 p.A912T 0.974 superfamily_PDZ pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI2 HGNC ENSG00000187391 155 0 0.00 118 51 30.18 - - - MAN2A1 0 genome.wustl.edu 37 5 109091068 109091068 + Missense_Mutation SNP G G T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 5 109091068 109091068 G T SNP MAN2A1 ENST00000261483 human ensembl 69_37n +1 known missense c.746 p.G249V 1.000 pfam_Glyco_hydro_38_core,superfamily_Glyco_hydro/deAcase_b/a-brl 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 MAN2A1 HGNC ENSG00000112893 276 0 0.00 149 71 32.27 - - - MFGE8 0 genome.wustl.edu 37 15 89449997 89449997 + Missense_Mutation SNP G G A TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 15 89449997 89449997 G A SNP MFGE8 ENST00000268150 human ensembl 69_37n -1 known missense c.400 p.R134W 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_EGF-like_dom,superfamily_Galactose-bd-like,smart_EGF-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors MFGE8 HGNC ENSG00000140545 76 0 0.00 35 26 42.62 - - - MLLT10 0 genome.wustl.edu 37 10 22016847 22016847 + Missense_Mutation SNP C C T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 10 22016847 22016847 C T SNP MLLT10 ENST00000307729 human ensembl 69_37n +1 known missense c.2053 p.L685F 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT10 HGNC ENSG00000078403 70 0 0.00 49 7 12.50 - - - MYCT1 0 genome.wustl.edu 37 6 153019117 153019117 + Frame_Shift_Del DEL T T - TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 6 153019117 153019117 T - DEL MYCT1 ENST00000367245 human ensembl 69_37n +1 known frame_shift_del c.80 p.F29fs 0.997 NULL NULL - no_errors MYCT1 HGNC ENSG00000120279 118 0 0.00 50 32 39.02 - - - NACC1 0 genome.wustl.edu 37 19 13248140 13248140 + Silent SNP C C T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 19 13248140 13248140 C T SNP NACC1 ENST00000292431 human ensembl 69_37n +1 known silent c.1176 p.G392 1.000 NULL pfam_BTB_POZ,pfam_BEN_domain,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors NACC1 HGNC ENSG00000160877 35 0 0.00 22 7 24.14 - - - NPAS3 0 genome.wustl.edu 37 14 34269516 34269516 + Missense_Mutation SNP C C T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 14 34269516 34269516 C T SNP NPAS3 ENST00000356141 human ensembl 69_37n +1 known missense c.2003 p.P668L 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pfscan_PAS,pfscan_HLH_DNA-bd - no_errors NPAS3 HGNC ENSG00000151322 19 0 0.00 10 7 41.18 - - - NUDT10 0 genome.wustl.edu 37 X 51076061 51076061 + Missense_Mutation SNP G G A TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 X 51076061 51076061 G A SNP NUDT10 ENST00000356450 human ensembl 69_37n +1 known missense c.244 p.V82I 0.502 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT10 HGNC ENSG00000122824 163 0 0.00 132 77 36.84 - - - NUP107 0 genome.wustl.edu 37 12 69082816 69082816 + Missense_Mutation SNP C C G TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 12 69082816 69082816 C G SNP NUP107 ENST00000229179 human ensembl 69_37n +1 known missense c.83 p.A28G 1.000 NULL pfam_Nup84_Nup100 - no_errors NUP107 HGNC ENSG00000111581 149 0 0.00 160 24 13.04 - - - OBSCN 0 genome.wustl.edu 37 1 228521466 228521466 + Missense_Mutation SNP C C T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 1 228521466 228521466 C T SNP OBSCN ENST00000422127 human ensembl 69_37n +1 known missense c.16039 p.R5347W 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 54 0 0.00 70 27 27.84 - - - OBSCN 0 genome.wustl.edu 37 1 228537694 228537695 + Frame_Shift_Ins INS - - T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 1 228537694 228537695 - T INS OBSCN ENST00000422127 human ensembl 69_37n +1 known frame_shift_ins c.18252_18253 p.Y6084fs 1.000:1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 46 0 0.00 49 9 15.52 - - - OR5AS1 0 genome.wustl.edu 37 11 55798416 55798416 + Silent SNP C C T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 11 55798416 55798416 C T SNP OR5AS1 ENST00000313555 human ensembl 69_37n +1 known silent c.522 p.V174 0.014 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 OR5AS1 HGNC ENSG00000181785 239 0 0.00 232 82 25.95 - - - PDE1B 0 genome.wustl.edu 37 12 54943667 54943667 + Missense_Mutation SNP C C T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 12 54943667 54943667 C T SNP PDE1B ENST00000243052 human ensembl 69_37n +1 known missense c.11 p.S4F 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1B HGNC ENSG00000123360 34 0 0.00 22 16 42.11 - - - PEAK1 0 genome.wustl.edu 37 15 77474189 77474189 + Missense_Mutation SNP T T C TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 15 77474189 77474189 T C SNP PEAK1 ENST00000312493 human ensembl 69_37n -1 known missense c.80 p.H27R 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors PEAK1 Clone_based_vega_gene ENSG00000173517 215 0 0.00 166 84 33.60 - - - PFKFB1 0 genome.wustl.edu 37 X 54978380 54978380 + Silent SNP G G A TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 X 54978380 54978380 G A SNP PFKFB1 ENST00000375006 human ensembl 69_37n -1 known silent c.804 p.G268 1.000 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Zeta_toxin_domain,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB1 HGNC ENSG00000158571 128 0 0.00 89 40 31.01 - - - PHKA1 0 genome.wustl.edu 37 X 71823050 71823050 + Silent SNP G G A TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 X 71823050 71823050 G A SNP PHKA1 ENST00000373539 human ensembl 69_37n -1 known silent c.2836 p.L946 1.000 NULL pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC ENSG00000067177 211 0 0.00 146 66 31.13 - - - PLEKHG3 0 genome.wustl.edu 37 14 65208367 65208367 + Missense_Mutation SNP C C T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 14 65208367 65208367 C T SNP PLEKHG3 ENST00000394691 human ensembl 69_37n +1 known missense c.2132 p.T711I 0.943 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC ENSG00000126822 11 0 0.00 7 7 50.00 - - - PPAPDC1A 0 genome.wustl.edu 37 10 122278379 122278379 + Nonsense_Mutation SNP C C A TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 10 122278379 122278379 C A SNP PPAPDC1A ENST00000398250 human ensembl 69_37n +1 known nonsense c.291 p.C97* 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAPDC1A HGNC ENSG00000203805 390 0 0.00 246 156 38.71 - - - PQLC2 0 genome.wustl.edu 37 1 19653907 19653907 + Splice_Site SNP G G A TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 1 19653907 19653907 G A SNP PQLC2 ENST00000375153 human ensembl 69_37n +1 known splice_site c.804+1 e6+1 0.998 - - - no_errors PQLC2 HGNC ENSG00000040487 19 0 0.00 11 9 45.00 - - - PRAMEF11 0 genome.wustl.edu 37 1 12887609 12887609 + Missense_Mutation SNP C C T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 1 12887609 12887609 C T SNP PRAMEF11 ENST00000535591 human ensembl 69_37n -1 known missense c.248 p.G83E 0.000 NULL NULL - no_errors PRAMEF11 HGNC ENSG00000204513 67 0 0.00 42 20 32.26 - - - RAB30 0 genome.wustl.edu 37 11 82708280 82708280 + Missense_Mutation SNP G G C TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 11 82708280 82708280 G C SNP RAB30 ENST00000260056 human ensembl 69_37n -1 known missense c.79 p.R27G 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB30 HGNC ENSG00000137502 179 0 0.00 96 105 51.98 - - - RAN 0 genome.wustl.edu 37 12 131359172 131359172 + Frame_Shift_Del DEL G G - TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 12 131359172 131359172 G - DEL RAN ENST00000392369 human ensembl 69_37n +1 known frame_shift_del c.329 p.R110fs 0.998 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAN HGNC ENSG00000132341 150 0 0.00 139 37 20.56 - - - RC3H2 0 genome.wustl.edu 37 9 125621114 125621114 + Missense_Mutation SNP T T C TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 9 125621114 125621114 T C SNP RC3H2 ENST00000357244 human ensembl 69_37n -1 known missense c.2117 p.Y706C 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H2 HGNC ENSG00000056586 137 0 0.00 97 41 29.71 - - - RP1 0 genome.wustl.edu 37 8 55537248 55537248 + Missense_Mutation SNP C C T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 8 55537248 55537248 C T SNP RP1 ENST00000220676 human ensembl 69_37n +1 known missense c.806 p.S269L 0.988 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 57 0 0.00 54 15 21.74 - - - RYR1 0 genome.wustl.edu 37 19 38993592 38993592 + Silent SNP C C T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 19 38993592 38993592 C T SNP RYR1 ENST00000359596 human ensembl 69_37n +1 known silent c.7908 p.F2636 0.988 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 61 0 0.00 25 15 36.59 - - - SEC13 0 genome.wustl.edu 37 3 10354321 10354321 + Nonsense_Mutation SNP C C T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 3 10354321 10354321 C T SNP SEC13 ENST00000350697 human ensembl 69_37n -1 known nonsense c.258 p.W86* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC13 HGNC ENSG00000157020 206 0 0.00 115 45 28.12 - - - SEC61A1 0 genome.wustl.edu 37 3 127788327 127788327 + Missense_Mutation SNP C C T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 3 127788327 127788327 C T SNP SEC61A1 ENST00000243253 human ensembl 69_37n +1 known missense c.1253 p.P418L 1.000 pfam_SecY,superfamily_SecY_su_dom,pirsf_SecY,tigrfam_SecY pfam_SecY,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY,tigrfam_SecY - no_errors SEC61A1 HGNC ENSG00000058262 27 0 0.00 6 16 72.73 - - - SIGLEC7 0 genome.wustl.edu 37 19 51647840 51647840 + Missense_Mutation SNP T T G TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 19 51647840 51647840 T G SNP SIGLEC7 ENST00000317643 human ensembl 69_37n +1 known missense c.611 p.L204R 0.142 smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC7 HGNC ENSG00000168995 55 0 0.00 39 21 35.00 - - - SLC12A6 0 genome.wustl.edu 37 15 34530451 34530451 + Missense_Mutation SNP G G C TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 15 34530451 34530451 G C SNP SLC12A6 ENST00000558589 human ensembl 69_37n -1 known missense c.2757 p.F919L 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A6 HGNC ENSG00000140199 204 2 0.97 119 87 42.23 - - - SLC20A1 0 genome.wustl.edu 37 2 113404906 113404906 + Missense_Mutation SNP G G T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 2 113404906 113404906 G T SNP SLC20A1 ENST00000272542 human ensembl 69_37n +1 known missense c.340 p.A114S 1.000 pfam_Phos_transporter pfam_Phos_transporter - no_errors SLC20A1 HGNC ENSG00000144136 304 0 0.00 184 95 34.05 - - - SLC22A25 0 genome.wustl.edu 37 11 62996956 62996956 + Missense_Mutation SNP C C A TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 11 62996956 62996956 C A SNP SLC22A25 ENST00000306494 human ensembl 69_37n -1 known missense c.169 p.D57Y 0.902 NULL pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A25 HGNC ENSG00000196600 233 0 0.00 135 83 37.90 - - - SLC25A53 0 genome.wustl.edu 37 X 103349790 103349790 + Missense_Mutation SNP C C T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 X 103349790 103349790 C T SNP SLC25A53 ENST00000357421 human ensembl 69_37n -1 known missense c.151 p.V51I 0.998 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A53 HGNC ENSG00000176274 87 0 0.00 63 7 10.00 - - - SLC26A9 0 genome.wustl.edu 37 1 205897095 205897095 + Missense_Mutation SNP C C T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 1 205897095 205897095 C T SNP SLC26A9 ENST00000340781 human ensembl 69_37n -1 known missense c.1036 p.V346I 1.000 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A9 HGNC ENSG00000174502 65 0 0.00 80 15 15.79 - - - SLC35B2 0 genome.wustl.edu 37 6 44224176 44224176 + Missense_Mutation SNP G G T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 6 44224176 44224176 G T SNP SLC35B2 ENST00000393812 human ensembl 69_37n -1 known missense c.263 p.A88D 0.983 NULL pfam_UAA,pfam_DMT - no_errors SLC35B2 HGNC ENSG00000157593 48 0 0.00 20 15 42.86 - - - SMARCA4 0 genome.wustl.edu 37 19 11113752 11113752 + Silent SNP C C T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 19 11113752 11113752 C T SNP SMARCA4 ENST00000358026 human ensembl 69_37n +1 known silent c.1860 p.I620 1.000 pfam_BRK_domain,smart_BRK_domain pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 75 0 0.00 36 21 36.84 - - - STAC2 0 genome.wustl.edu 37 17 37371076 37371076 + Missense_Mutation SNP G G T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 17 37371076 37371076 G T SNP STAC2 ENST00000333461 human ensembl 69_37n -1 known missense c.811 p.P271T 1.000 NULL pfam_SH3_2,pfam_SH3_domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_SH3_domain,prints_p67phox - no_errors STAC2 HGNC ENSG00000141750 98 0 0.00 141 28 16.57 - - - STARD9 0 genome.wustl.edu 37 15 42984495 42984495 + Silent SNP G G A TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 15 42984495 42984495 G A SNP STARD9 ENST00000290607 human ensembl 69_37n +1 known silent c.10719 p.T3573 0.000 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 41 0 0.00 16 10 38.46 - - - TBP 0 genome.wustl.edu 37 6 170871052 170871052 + Silent SNP G G A TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 6 170871052 170871052 G A SNP TBP ENST00000230354 human ensembl 69_37n +1 known silent c.228 p.Q76 0.994 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 38 0 0.00 25 10 27.78 - - - TIAM2 0 genome.wustl.edu 37 6 155561720 155561720 + Silent SNP C C T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 6 155561720 155561720 C T SNP TIAM2 ENST00000456144 human ensembl 69_37n +1 known silent c.3225 p.G1075 0.597 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC ENSG00000146426 68 0 0.00 29 17 36.96 - - - TMTC4 0 genome.wustl.edu 37 13 101278346 101278346 + Missense_Mutation SNP C C T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 13 101278346 101278346 C T SNP TMTC4 ENST00000342624 human ensembl 69_37n -1 known missense c.1565 p.R522K 0.967 pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC4 HGNC ENSG00000125247 145 0 0.00 68 36 34.62 - - - TRIM51HP 0 genome.wustl.edu 37 11 55064990 55064990 + RNA SNP G G T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 11 55064990 55064990 G T SNP TRIM51HP ENST00000526016 human ensembl 69_37n -1 putative rna NULL NULL 0.008 - - - no_errors TRIM51HP HGNC ENSG00000166007 137 0 0.00 85 18 17.48 - - - TSGA13 0 genome.wustl.edu 37 7 130357595 130357595 + Missense_Mutation SNP G G A TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 7 130357595 130357595 G A SNP TSGA13 ENST00000356588 human ensembl 69_37n -1 known missense c.509 p.S170F 0.002 NULL NULL - no_errors TSGA13 HGNC ENSG00000213265 276 0 0.00 241 28 10.41 - - - TTC25 0 genome.wustl.edu 37 17 40091945 40091945 + RNA SNP C C A TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 17 40091945 40091945 C A SNP TTC25 ENST00000377540 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors TTC25 HGNC ENSG00000204815 158 0 0.00 135 52 27.66 - - - ULK2 0 genome.wustl.edu 37 17 19685246 19685246 + Missense_Mutation SNP C C T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 17 19685246 19685246 C T SNP ULK2 ENST00000575432 human ensembl 69_37n -1 novel missense c.550 p.E184K 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon ULK2 HGNC ENSG00000083290 106 0 0.00 57 21 26.92 - - - VPS26A 0 genome.wustl.edu 37 10 70892783 70892783 + Missense_Mutation SNP G G A TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 10 70892783 70892783 G A SNP VPS26A ENST00000263559 human ensembl 69_37n +1 known missense c.133 p.G45R 1.000 pfam_VPS26 pfam_VPS26 - no_errors VPS26A HGNC ENSG00000122958 150 0 0.00 84 53 38.41 - - - YARS2 0 genome.wustl.edu 37 12 32908185 32908185 + Silent SNP G G A TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 12 32908185 32908185 G A SNP YARS2 ENST00000324868 human ensembl 69_37n -1 known silent c.624 p.L208 0.006 pfam_aa-tRNA-synth_Ic,tigrfam_Tyr-tRNA-synth pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-synth,tigrfam_Tyr-tRNA-synth - no_errors YARS2 HGNC ENSG00000139131 40 0 0.00 28 15 34.09 - - - ZFR2 0 genome.wustl.edu 37 19 3834981 3834981 + Silent SNP G G A TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 19 3834981 3834981 G A SNP ZFR2 ENST00000262961 human ensembl 69_37n -1 known silent c.54 p.S18 0.314 NULL pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR2 HGNC ENSG00000105278 21 0 0.00 9 13 59.09 - - - ZNF281 0 genome.wustl.edu 37 1 200378223 200378223 + Missense_Mutation SNP T T A TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 1 200378223 200378223 T A SNP ZNF281 ENST00000294740 human ensembl 69_37n -1 known missense c.611 p.D204V 0.912 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF281 HGNC ENSG00000162702 115 0 0.00 111 34 23.45 - - - ZNF347 0 genome.wustl.edu 37 19 53645625 53645625 + Nonsense_Mutation SNP G G T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 19 53645625 53645625 G T SNP ZNF347 ENST00000452676 human ensembl 69_37n -1 known nonsense c.459 p.Y153* 0.006 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 ZNF347 HGNC ENSG00000197937 141 0 0.00 102 60 37.04 - - - ZNF75A 0 genome.wustl.edu 37 16 3366955 3366955 + Missense_Mutation SNP G G T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 16 3366955 3366955 G T SNP ZNF75A ENST00000574298 human ensembl 69_37n +1 known missense c.144 p.E48D 1.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF75A HGNC ENSG00000162086 146 0 0.00 85 34 28.57 - - - ZP4 0 genome.wustl.edu 37 1 238051691 238051691 + Nonsense_Mutation SNP C C A TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 795f051e-01c4-4b49-b179-bd18ba24433c 3294b1ce-7e97-4973-86d3-71866f5a16c7 1 238051691 238051691 C A SNP ZP4 ENST00000366570 human ensembl 69_37n -1 known nonsense c.520 p.E174* 0.000 pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil pfam_Zona_pellucida_Endoglin/CD105,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors ZP4 HGNC ENSG00000116996 142 0 0.00 166 45 21.33 - - -