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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source AAED1 195827 genome.wustl.edu 37 9 99417103 99417103 + RNA SNP C C G TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 9 99417103 99417103 C G SNP AAED1 ENST00000464512 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AAED1 HGNC ABHD12B 145447 genome.wustl.edu 37 14 51371087 51371087 + RNA SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 14 51371087 51371087 C T SNP ABHD12B ENST00000554566 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ABHD12B HGNC ANGEL2 90806 genome.wustl.edu 37 1 213180441 213180442 + RNA INS - - A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 1 213180441 213180442 - A INS ANGEL2 ENST00000460337 human ensembl 70_37 -1 known rna NULL NULL 0.003:0.007 - - - no_errors ANGEL2 HGNC ANKRD13D 338692 genome.wustl.edu 37 11 67069645 67069645 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 11 67069645 67069645 C T SNP ANKRD13D ENST00000511455 human ensembl 70_37 +1 known missense c.1660 p.P554S 0.011 NULL pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13D HGNC ASGR1 432 genome.wustl.edu 37 17 7077286 7077286 + Missense_Mutation SNP C C A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 17 7077286 7077286 C A SNP ASGR1 ENST00000269299 human ensembl 70_37 -1 known missense c.695 p.G232V 0.995 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors ASGR1 HGNC ATP2B4 493 genome.wustl.edu 37 1 203708795 203708795 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 1 203708795 203708795 G A SNP ATP2B4 ENST00000357681 human ensembl 70_37 +1 known missense c.3431 p.R1144Q 0.938 pfam_ATP_Ca_trans_C pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B4 HGNC BPTF 2186 genome.wustl.edu 37 17 65907170 65907170 + Nonsense_Mutation SNP C C A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 17 65907170 65907170 C A SNP BPTF ENST00000321892 human ensembl 70_37 +1 known nonsense c.3548 p.S1183* 1.000 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC C19orf26 255057 genome.wustl.edu 37 19 1233483 1233483 + Missense_Mutation SNP G G C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 19 1233483 1233483 G C SNP C19orf26 ENST00000382477 human ensembl 70_37 -1 known missense c.981 p.F327L 1.000 NULL NULL - no_errors C19orf26 HGNC C8G 733 genome.wustl.edu 37 9 139840397 139840397 + Nonsense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 9 139840397 139840397 C T SNP C8G ENST00000224181 human ensembl 70_37 +1 known nonsense c.292 p.Q98* 0.330 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_A1-microglobln,prints_Lipocalin - no_errors C8G HGNC CMKLR1 1240 genome.wustl.edu 37 12 108685872 108685872 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 12 108685872 108685872 G A SNP CMKLR1 ENST00000312143 human ensembl 70_37 -1 known missense c.868 p.P290S 0.668 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_ATII_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt - no_errors CMKLR1 HGNC COL9A1 1297 genome.wustl.edu 37 6 71003986 71003986 + Missense_Mutation SNP G G C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 6 71003986 71003986 G C SNP COL9A1 ENST00000357250 human ensembl 70_37 -1 known missense c.580 p.L194V 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL9A1 HGNC COPE 11316 genome.wustl.edu 37 19 19021651 19021651 + RNA SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 19 19021651 19021651 G A SNP COPE ENST00000597646 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors COPE HGNC CPSF2 53981 genome.wustl.edu 37 14 92625343 92625343 + Nonsense_Mutation SNP C C G TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 14 92625343 92625343 C G SNP CPSF2 ENST00000298875 human ensembl 70_37 +1 known nonsense c.1838 p.S613* 1.000 NULL pfam_Beta_Casp,pfam_RMMBL,pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors CPSF2 HGNC CREB1 1385 genome.wustl.edu 37 2 208440097 208440097 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 2 208440097 208440097 C T SNP CREB1 ENST00000432329 human ensembl 70_37 +1 known missense c.649 p.P217S 1.000 NULL pfam_Coactivator_CBP_pKID,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_Coactivator_CBP_pKID,pfscan_bZIP,prints_Leuzip_CREB - no_errors CREB1 HGNC CSF2RB 1439 genome.wustl.edu 37 22 37334480 37334480 + Missense_Mutation SNP T T C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 22 37334480 37334480 T C SNP CSF2RB ENST00000262825 human ensembl 70_37 +1 known missense c.2648 p.L883P 1.000 pirsf_IL3_rcpt_beta pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_IL3_rcpt_beta,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC DCAF7 10238 genome.wustl.edu 37 17 61670999 61670999 + RNA SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 17 61670999 61670999 G A SNP DCAF7 ENST00000577702 human ensembl 70_37 +1 known rna NULL NULL 0.988 - - - no_errors DCAF7 HGNC DNAH1 25981 genome.wustl.edu 37 3 52397151 52397151 + Silent SNP C C G TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 3 52397151 52397151 C G SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known silent c.5235 p.L1745 0.970 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC DNAH10 196385 genome.wustl.edu 37 12 124256189 124256189 + Silent SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 12 124256189 124256189 C T SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known silent c.157 p.L53 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC DOT1L 84444 genome.wustl.edu 37 19 2225393 2225393 + Missense_Mutation SNP G G C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 19 2225393 2225393 G C SNP DOT1L ENST00000398665 human ensembl 70_37 +1 known missense c.3603 p.E1201D 1.000 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000221060 0 genome.wustl.edu 37 14 70270922 70270922 + RNA DEL T T - TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 14 70270922 70270922 T - DEL ENSG00000221060 ENST00000408133 human ensembl 70_37 -1 novel rna NULL NULL 0.003 - - - no_errors SNORA11 RFAM ENSG00000235999 0 genome.wustl.edu 37 1 149291295 149291295 + RNA SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 1 149291295 149291295 G A SNP ENSG00000235999 ENST00000433084 human ensembl 70_37 +1 known rna NULL NULL 0.029 - - - no_errors RP11-403I13.8 Clone_based_vega_gene ENSG00000251259 0 genome.wustl.edu 37 4 106058719 106058719 + RNA SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 4 106058719 106058719 C T SNP ENSG00000251259 ENST00000504082 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC004069.2 Clone_based_vega_gene ENSG00000255345 0 genome.wustl.edu 37 11 78807960 78807961 + RNA INS - - GC TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 11 78807960 78807961 - GC INS ENSG00000255345 ENST00000526091 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors CTD-2337I7.1 Clone_based_vega_gene EXD3 54932 genome.wustl.edu 37 9 140242526 140242526 + Silent SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 9 140242526 140242526 G A SNP EXD3 ENST00000340951 human ensembl 70_37 -1 known silent c.1995 p.A665 0.886 pfam_DUF82 pfam_DUF82,pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD3 HGNC FBXW7 55294 genome.wustl.edu 37 4 153247304 153247304 + Missense_Mutation SNP G G C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 4 153247304 153247304 G C SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known missense c.1498 p.H500D 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC FGD5 152273 genome.wustl.edu 37 3 14860691 14860691 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 3 14860691 14860691 G A SNP FGD5 ENST00000285046 human ensembl 70_37 +1 known missense c.113 p.R38Q 0.546 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC FGF9 2254 genome.wustl.edu 37 13 22275848 22275848 + RNA SNP A A G TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 13 22275848 22275848 A G SNP FGF9 ENST00000478546 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors FGF9 HGNC FOLR3 2352 genome.wustl.edu 37 11 71850074 71850074 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 11 71850074 71850074 C T SNP FOLR3 ENST00000456237 human ensembl 70_37 +1 known missense c.364 p.P122S 0.964 NULL pfam_Folate_rcpt-like - no_errors FOLR3 HGNC FRA10AC1 118924 genome.wustl.edu 37 10 95431876 95431876 + RNA SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 10 95431876 95431876 G A SNP FRA10AC1 ENST00000460752 human ensembl 70_37 -1 known rna NULL NULL 0.979 - - - no_errors FRA10AC1 HGNC FSIP2 401024 genome.wustl.edu 37 2 186672655 186672655 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 2 186672655 186672655 G A SNP FSIP2 ENST00000343098 human ensembl 70_37 +1 known missense c.18889 p.D6297N 0.965 NULL NULL - no_errors FSIP2 HGNC GANAB 23193 genome.wustl.edu 37 11 62398095 62398095 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 11 62398095 62398095 C T SNP GANAB ENST00000346178 human ensembl 70_37 -1 known missense c.1430 p.R477H 0.351 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd - no_errors GANAB HGNC GLI4 2738 genome.wustl.edu 37 8 144356975 144356975 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 8 144356975 144356975 G A SNP GLI4 ENST00000344692 human ensembl 70_37 +1 putative missense c.226 p.E76K 0.037 NULL NULL - no_errors GLI4 HGNC GRIA3 2892 genome.wustl.edu 37 X 122532563 122532563 + Missense_Mutation SNP A A G TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 X 122532563 122532563 A G SNP GRIA3 ENST00000264357 human ensembl 70_37 +1 known missense c.989 p.D330G 1.000 pfam_ANF_lig-bd_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA3 HGNC HELZ2 85441 genome.wustl.edu 37 20 62202620 62202620 + RNA SNP A A C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 20 62202620 62202620 A C SNP HELZ2 ENST00000479540 human ensembl 70_37 -1 known rna NULL NULL 0.503 - - - no_errors HELZ2 HGNC HIST1H2AL 8332 genome.wustl.edu 37 6 27833221 27833221 + Missense_Mutation SNP G G C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 6 27833221 27833221 G C SNP HIST1H2AL ENST00000357320 human ensembl 70_37 +1 known missense c.89 p.R30P 0.999 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AL HGNC KIAA1217 56243 genome.wustl.edu 37 10 24784015 24784015 + RNA DEL A A - TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 10 24784015 24784015 A - DEL KIAA1217 ENST00000460373 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors KIAA1217 HGNC KRT6B 3854 genome.wustl.edu 37 12 52844261 52844261 + Silent SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 12 52844261 52844261 G A SNP KRT6B ENST00000252252 human ensembl 70_37 -1 known silent c.684 p.I228 0.001 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC KRT6B 3854 genome.wustl.edu 37 12 52845362 52845362 + Missense_Mutation SNP G G C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 12 52845362 52845362 G C SNP KRT6B ENST00000252252 human ensembl 70_37 -1 known missense c.501 p.I167M 1.000 pfam_F,prints_Keratin_II pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC LAMA5 3911 genome.wustl.edu 37 20 60904023 60904023 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 20 60904023 60904023 C T SNP LAMA5 ENST00000252999 human ensembl 70_37 -1 known missense c.4324 p.E1442K 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC LAMA5 3911 genome.wustl.edu 37 20 60905569 60905569 + Silent SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 20 60905569 60905569 G A SNP LAMA5 ENST00000252999 human ensembl 70_37 -1 known silent c.3954 p.L1318 0.015 NULL pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC LOC100131726 100131726 genome.wustl.edu 37 8 124214648 124214648 + RNA SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 8 124214648 124214648 C T SNP LOC100131726 ENST00000517519 human ensembl 70_37 -1 known rna NULL NULL 0.099 - - - no_errors RP11-539E17.4 Clone_based_vega_gene LOC100996870 100996870 genome.wustl.edu 37 9 66466650 66466650 + RNA SNP G G C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 9 66466650 66466650 G C SNP LOC100996870 ENST00000424345 human ensembl 70_37 +1 known rna NULL NULL 0.105 - - - no_errors RP11-262H14.1 Clone_based_vega_gene LRP4 4038 genome.wustl.edu 37 11 46884233 46884233 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 11 46884233 46884233 C T SNP LRP4 ENST00000378623 human ensembl 70_37 -1 known missense c.5309 p.R1770Q 1.000 NULL pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP4 HGNC LRRC1 55227 genome.wustl.edu 37 6 53784277 53784277 + RNA SNP A A T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 6 53784277 53784277 A T SNP LRRC1 ENST00000490222 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LRRC1 HGNC MAP2K3 5606 genome.wustl.edu 37 17 21201725 21201725 + Missense_Mutation SNP G G C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 17 21201725 21201725 G C SNP MAP2K3 ENST00000342679 human ensembl 70_37 +1 known missense c.50 p.G17A 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,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP2K3 HGNC MIR205 406988 genome.wustl.edu 37 1 209605512 209605512 + RNA SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 1 209605512 209605512 C T SNP MIR205 ENST00000384891 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR205 HGNC MIR4477B 100616194 genome.wustl.edu 37 9 68415379 68415379 + RNA SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 9 68415379 68415379 G A SNP MIR4477B ENST00000581659 human ensembl 70_37 +1 known rna NULL NULL 0.197 - - - no_errors MIR4477B HGNC MKI67 4288 genome.wustl.edu 37 10 129913804 129913804 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 10 129913804 129913804 G A SNP MKI67 ENST00000368654 human ensembl 70_37 -1 known missense c.868 p.R290C 0.000 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC MON1B 22879 genome.wustl.edu 37 16 77228297 77228297 + Nonsense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 16 77228297 77228297 C T SNP MON1B ENST00000248248 human ensembl 70_37 +1 known nonsense c.541 p.Q181* 1.000 pfam_Vacuolar_fusion_protein_MON1 pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1 - no_errors MON1B HGNC MTL5 9633 genome.wustl.edu 37 11 68512505 68512505 + Silent SNP G G C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 11 68512505 68512505 G C SNP MTL5 ENST00000255087 human ensembl 70_37 -1 known silent c.705 p.L235 0.814 superfamily_Thionin pfam_CRC,superfamily_Thionin - no_errors MTL5 HGNC MUC16 94025 genome.wustl.edu 37 19 9049262 9049262 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 19 9049262 9049262 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.32369 p.S10790L 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MYO7B 4648 genome.wustl.edu 37 2 128388905 128388905 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 2 128388905 128388905 G A SNP MYO7B ENST00000389524 human ensembl 70_37 +1 known missense c.4984 p.D1662N 0.736 smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC NARFL 64428 genome.wustl.edu 37 16 780560 780560 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 16 780560 780560 C T SNP NARFL ENST00000251588 human ensembl 70_37 -1 known missense c.1288 p.E430K 0.000 pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARFL HGNC NARFL 64428 genome.wustl.edu 37 16 780648 780648 + Silent SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 16 780648 780648 C T SNP NARFL ENST00000251588 human ensembl 70_37 -1 known silent c.1200 p.L400 0.886 pfam_Fe_hydrogenase_lsu_C,superfamily_Fe_hydrogenase pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARFL HGNC NCR1 9437 genome.wustl.edu 37 19 55417656 55417656 + Splice_Site SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 19 55417656 55417656 G A SNP NCR1 ENST00000291890 human ensembl 70_37 +1 known splice_site c.35-1 e2-1 0.799 - - - no_errors NCR1 HGNC NLRP4 147945 genome.wustl.edu 37 19 56388409 56388409 + Missense_Mutation SNP C C G TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 19 56388409 56388409 C G SNP NLRP4 ENST00000301295 human ensembl 70_37 +1 known missense c.2573 p.S858C 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC NSD1 64324 genome.wustl.edu 37 5 176637274 176637274 + Missense_Mutation SNP G G C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 5 176637274 176637274 G C SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known missense c.1874 p.G625A 1.000 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC NSD1 64324 genome.wustl.edu 37 5 176637327 176637327 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 5 176637327 176637327 G A SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known missense c.1927 p.D643N 1.000 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC NSD1 64324 genome.wustl.edu 37 5 176637330 176637330 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 5 176637330 176637330 G A SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known missense c.1930 p.D644N 1.000 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC NSD1 64324 genome.wustl.edu 37 5 176637417 176637417 + Missense_Mutation SNP G G C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 5 176637417 176637417 G C SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known missense c.2017 p.E673Q 0.993 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC NSD1 64324 genome.wustl.edu 37 5 176637601 176637601 + Missense_Mutation SNP A A G TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 5 176637601 176637601 A G SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known missense c.2201 p.K734R 0.137 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC NSD1 64324 genome.wustl.edu 37 5 176637740 176637740 + Silent SNP G G C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 5 176637740 176637740 G C SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known silent c.2340 p.S780 0.035 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC NSD1 64324 genome.wustl.edu 37 5 176637930 176637930 + Frame_Shift_Del DEL G G - TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 5 176637930 176637930 G - DEL NSD1 ENST00000439151 human ensembl 70_37 +1 known frame_shift_del c.2530 p.E844fs 1.000 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC NSD1 64324 genome.wustl.edu 37 5 176637932 176637932 + Silent SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 5 176637932 176637932 G A SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known silent c.2532 p.E844 1.000 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC NSD1 64324 genome.wustl.edu 37 5 176637992 176637992 + Silent SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 5 176637992 176637992 G A SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known silent c.2592 p.L864 1.000 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC NSD1 64324 genome.wustl.edu 37 5 176638298 176638298 + Silent SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 5 176638298 176638298 G A SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known silent c.2898 p.E966 0.998 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC NUP98 4928 genome.wustl.edu 37 11 3781798 3781798 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 11 3781798 3781798 G A SNP NUP98 ENST00000324932 human ensembl 70_37 -1 known missense c.1145 p.S382L 1.000 NULL pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC OPN5 221391 genome.wustl.edu 37 6 47763151 47763151 + Missense_Mutation SNP T T C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 6 47763151 47763151 T C SNP OPN5 ENST00000371211 human ensembl 70_37 +1 known missense c.608 p.I203T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Peropsin - no_errors OPN5 HGNC PIK3C2A 5286 genome.wustl.edu 37 11 17191265 17191265 + Silent SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 11 17191265 17191265 G A SNP PIK3C2A ENST00000265970 human ensembl 70_37 -1 known silent c.24 p.S8 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_Ca-dep,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC PINX1 54984 genome.wustl.edu 37 8 10623045 10623045 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 8 10623045 10623045 C T SNP PINX1 ENST00000314787 human ensembl 70_37 -1 known missense c.853 p.E285K 0.000 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors PINX1 HGNC PKDCC 91461 genome.wustl.edu 37 2 42275816 42275816 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 2 42275816 42275816 C T SNP PKDCC ENST00000401498 human ensembl 70_37 +1 known missense c.335 p.A112V 1.000 NULL NULL - no_errors PKDCC HGNC PLCL2 23228 genome.wustl.edu 37 3 17052190 17052190 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 3 17052190 17052190 G A SNP PLCL2 ENST00000418129 human ensembl 70_37 +1 known missense c.974 p.R325Q 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL2 HGNC PLCZ1 89869 genome.wustl.edu 37 12 18836181 18836181 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 12 18836181 18836181 C T SNP PLCZ1 ENST00000266505 human ensembl 70_37 -1 known missense c.1819 p.V607I 0.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCZ1 HGNC PLSCR3 57048 genome.wustl.edu 37 17 7296132 7296132 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 17 7296132 7296132 C T SNP PLSCR3 ENST00000324822 human ensembl 70_37 -1 known missense c.647 p.C216Y 1.000 pfam_Scramblase,superfamily_Tubby_C-like pfam_Scramblase,superfamily_Tubby_C-like - no_errors PLSCR3 HGNC POLR2E 5434 genome.wustl.edu 37 19 1093795 1093795 + Silent SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 19 1093795 1093795 G A SNP POLR2E ENST00000591767 human ensembl 70_37 -1 known silent c.165 p.L55 0.005 NULL superfamily_RNA_pol_Rpb5_N - no_errors POLR2E HGNC POLR2E 5434 genome.wustl.edu 37 19 1093961 1093961 + Silent SNP G G T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 19 1093961 1093961 G T SNP POLR2E ENST00000215587 human ensembl 70_37 -1 known silent c.174 p.L58 0.986 pfam_RNA_pol_Rpb5_N,superfamily_RNA_pol_Rpb5_N,pirsf_DNA-dir_RNA_pol_RPB5_su pfam_RNA_pol_subH/Rpb5_C,pfam_RNA_pol_Rpb5_N,superfamily_RNA_pol_Rpb5_N,superfamily_RNA_pol_subH/Rpb5_C,pirsf_DNA-dir_RNA_pol_RPB5_su - no_errors POLR2E HGNC POLR2L 5441 genome.wustl.edu 37 11 842418 842418 + Missense_Mutation SNP C C G TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 11 842418 842418 C G SNP POLR2L ENST00000322028 human ensembl 70_37 -1 known missense c.91 p.E31Q 0.989 pfam_RNAP_N/Rpb10,superfamily_RNA_pol_su_RPB10,pirsf_RNAP_N/Rpb10 pfam_RNAP_N/Rpb10,superfamily_RNA_pol_su_RPB10,pirsf_RNAP_N/Rpb10 - no_errors POLR2L HGNC PROSER1 80209 genome.wustl.edu 37 13 39608335 39608336 + Splice_Site INS - - A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 13 39608335 39608336 - A INS PROSER1 ENST00000352251 human ensembl 70_37 -1 novel splice_site_ins c.46-3_46-2 e2-2 1.000:0.899 - - - no_errors PROSER1 HGNC PTPRK 5796 genome.wustl.edu 37 6 128643077 128643077 + Missense_Mutation SNP G G C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 6 128643077 128643077 G C SNP PTPRK ENST00000525459 human ensembl 70_37 -1 putative missense c.602 p.S201C 0.004 NULL pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom - no_errors PTPRK HGNC PTPRN2 5799 genome.wustl.edu 37 7 157387953 157387953 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 7 157387953 157387953 C T SNP PTPRN2 ENST00000404321 human ensembl 70_37 -1 known missense c.2542 p.A848T 0.581 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,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 PTPRN2 HGNC RAG1 5896 genome.wustl.edu 37 11 36595309 36595309 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 11 36595309 36595309 C T SNP RAG1 ENST00000299440 human ensembl 70_37 +1 known missense c.455 p.P152L 1.000 NULL pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING - no_errors RAG1 HGNC RAP1GAP2 23108 genome.wustl.edu 37 17 2808623 2808623 + Silent SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 17 2808623 2808623 G A SNP RAP1GAP2 ENST00000542807 human ensembl 70_37 +1 known silent c.126 p.R42 0.999 NULL pfam_Rap_GAP,pfscan_Rap_GAP - no_errors RAP1GAP2 HGNC RASA1 5921 genome.wustl.edu 37 5 86682684 86682684 + Missense_Mutation SNP C C G TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 5 86682684 86682684 C G SNP RASA1 ENST00000274376 human ensembl 70_37 +1 known missense c.2889 p.N963K 1.000 superfamily_Rho_GTPase_activation_prot,smart_RasGAP pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC RGS19 10287 genome.wustl.edu 37 20 62708283 62708283 + RNA SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 20 62708283 62708283 C T SNP RGS19 ENST00000493165 human ensembl 70_37 -1 known rna NULL NULL 0.027 - - - no_errors RGS19 HGNC RRBP1 6238 genome.wustl.edu 37 20 17622492 17622492 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 20 17622492 17622492 C T SNP RRBP1 ENST00000246043 human ensembl 70_37 -1 known missense c.2134 p.E712K 1.000 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC RTF1 23168 genome.wustl.edu 37 15 41750013 41750013 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 15 41750013 41750013 G A SNP RTF1 ENST00000389629 human ensembl 70_37 +1 known missense c.601 p.E201K 1.000 NULL pfam_Plus-3,smart_Plus3-dom_subgr - no_errors RTF1 HGNC RTF1 23168 genome.wustl.edu 37 15 41750014 41750014 + Missense_Mutation SNP A A T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 15 41750014 41750014 A T SNP RTF1 ENST00000389629 human ensembl 70_37 +1 known missense c.602 p.E201V 1.000 NULL pfam_Plus-3,smart_Plus3-dom_subgr - no_errors RTF1 HGNC RTF1 23168 genome.wustl.edu 37 15 41750066 41750066 + Missense_Mutation SNP G G C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 15 41750066 41750066 G C SNP RTF1 ENST00000389629 human ensembl 70_37 +1 known missense c.654 p.L218F 0.993 NULL pfam_Plus-3,smart_Plus3-dom_subgr - no_errors RTF1 HGNC RUSC2 9853 genome.wustl.edu 37 9 35548154 35548154 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 9 35548154 35548154 G A SNP RUSC2 ENST00000361226 human ensembl 70_37 +1 known missense c.1636 p.E546K 1.000 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC SCN1A 6323 genome.wustl.edu 37 2 166848733 166848733 + Silent SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 2 166848733 166848733 G A SNP SCN1A ENST00000303395 human ensembl 70_37 -1 known silent c.5052 p.Y1684 0.934 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC SIGLEC14 100049587 genome.wustl.edu 37 19 52149143 52149143 + Missense_Mutation SNP G G T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 19 52149143 52149143 G T SNP SIGLEC14 ENST00000360844 human ensembl 70_37 -1 known missense c.592 p.L198I 0.001 pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC14 HGNC SLC26A11 284129 genome.wustl.edu 37 17 78196986 78196986 + RNA SNP C C G TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 17 78196986 78196986 C G SNP SLC26A11 ENST00000571602 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC26A11 HGNC SLC45A1 50651 genome.wustl.edu 37 1 8390366 8390366 + Silent SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 1 8390366 8390366 C T SNP SLC45A1 ENST00000377479 human ensembl 70_37 +1 known silent c.915 p.L305 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A1 HGNC SMR3A 26952 genome.wustl.edu 37 4 71232574 71232574 + Missense_Mutation SNP C C G TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 4 71232574 71232574 C G SNP SMR3A ENST00000226460 human ensembl 70_37 +1 known missense c.268 p.Q90E 0.003 NULL NULL - no_errors SMR3A HGNC SNRK 54861 genome.wustl.edu 37 3 43388892 43388892 + Missense_Mutation SNP C C G TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 3 43388892 43388892 C G SNP SNRK ENST00000296088 human ensembl 70_37 +1 known missense c.1141 p.P381A 0.982 NULL 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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors SNRK HGNC SPTBN4 57731 genome.wustl.edu 37 19 41071420 41071420 + Nonsense_Mutation SNP G G T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 19 41071420 41071420 G T SNP SPTBN4 ENST00000352632 human ensembl 70_37 +1 known nonsense c.6007 p.E2003* 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC SPTLC1 10558 genome.wustl.edu 37 9 94821546 94821546 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 9 94821546 94821546 G A SNP SPTLC1 ENST00000262554 human ensembl 70_37 -1 known missense c.605 p.S202F 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SPTLC1 HGNC SULT6B1 391365 genome.wustl.edu 37 2 37398707 37398707 + Silent SNP A A T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 2 37398707 37398707 A T SNP SULT6B1 ENST00000535679 human ensembl 70_37 -1 known silent c.651 p.I217 0.002 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors SULT6B1 HGNC SYTL1 84958 genome.wustl.edu 37 1 27679598 27679598 + RNA SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 1 27679598 27679598 C T SNP SYTL1 ENST00000475199 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SYTL1 HGNC TANC2 26115 genome.wustl.edu 37 17 61432444 61432444 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 17 61432444 61432444 G A SNP TANC2 ENST00000424789 human ensembl 70_37 +1 known missense c.2053 p.E685K 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC TENM4 26011 genome.wustl.edu 37 11 78381249 78381249 + Silent SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 11 78381249 78381249 C T SNP TENM4 ENST00000278550 human ensembl 70_37 -1 known silent c.6141 p.Q2047 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC THADA 63892 genome.wustl.edu 37 2 43801659 43801659 + Silent SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 2 43801659 43801659 C T SNP THADA ENST00000405006 human ensembl 70_37 -1 known silent c.1545 p.E515 0.000 superfamily_ARM-type_fold pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC TLK2 11011 genome.wustl.edu 37 17 60683572 60683572 + Silent SNP G G T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 17 60683572 60683572 G T SNP TLK2 ENST00000326270 human ensembl 70_37 +1 known silent c.2007 p.V669 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TLK2 HGNC TMEM87A 25963 genome.wustl.edu 37 15 42531874 42531874 + Silent SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 15 42531874 42531874 C T SNP TMEM87A ENST00000389834 human ensembl 70_37 -1 known silent c.678 p.L226 0.996 pfam_TM_rcpt_euk pfam_TM_rcpt_euk - no_errors TMEM87A HGNC TMEM87A 25963 genome.wustl.edu 37 15 42531888 42531888 + Nonsense_Mutation SNP C C A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 15 42531888 42531888 C A SNP TMEM87A ENST00000389834 human ensembl 70_37 -1 known nonsense c.664 p.E222* 1.000 pfam_TM_rcpt_euk pfam_TM_rcpt_euk - no_errors TMEM87A HGNC TMEM87A 25963 genome.wustl.edu 37 15 42556395 42556395 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 15 42556395 42556395 C T SNP TMEM87A ENST00000389834 human ensembl 70_37 -1 known missense c.298 p.E100K 0.989 NULL pfam_TM_rcpt_euk - no_errors TMEM87A HGNC TNS1 7145 genome.wustl.edu 37 2 218712887 218712889 + In_Frame_Del DEL GCT GCT - TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 2 218712887 218712889 GCT - DEL TNS1 ENST00000171887 human ensembl 70_37 -1 known in_frame_del c.1978_1976 p.Q659in_frame_del 1.000:1.000:0.994 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC TRPM2 7226 genome.wustl.edu 37 21 45837900 45837900 + Silent SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 21 45837900 45837900 C T SNP TRPM2 ENST00000300482 human ensembl 70_37 +1 known silent c.3237 p.A1079 0.107 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC TRPM3 80036 genome.wustl.edu 37 9 73296452 73296452 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 9 73296452 73296452 C T SNP TRPM3 ENST00000423814 human ensembl 70_37 -1 known missense c.1396 p.D466N 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC TUBGCP4 27229 genome.wustl.edu 37 15 43695887 43695887 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 15 43695887 43695887 C T SNP TUBGCP4 ENST00000260383 human ensembl 70_37 +1 known missense c.1741 p.H581Y 1.000 NULL pfam_Spc97_Spc98 - no_errors TUBGCP4 HGNC TUBGCP4 27229 genome.wustl.edu 37 15 43695904 43695904 + Silent SNP C C A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 15 43695904 43695904 C A SNP TUBGCP4 ENST00000260383 human ensembl 70_37 +1 known silent c.1758 p.I586 1.000 NULL pfam_Spc97_Spc98 - no_errors TUBGCP4 HGNC UBE3B 89910 genome.wustl.edu 37 12 109948163 109948163 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 12 109948163 109948163 G A SNP UBE3B ENST00000342494 human ensembl 70_37 +1 known missense c.1756 p.E586K 1.000 NULL pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC UBL4B 164153 genome.wustl.edu 37 1 110655651 110655651 + Silent SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 1 110655651 110655651 G A SNP UBL4B ENST00000334179 human ensembl 70_37 +1 known silent c.495 p.E165 0.002 NULL pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors UBL4B HGNC UBOX5 22888 genome.wustl.edu 37 20 3102944 3102944 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 20 3102944 3102944 G A SNP UBOX5 ENST00000217173 human ensembl 70_37 -1 known missense c.341 p.A114V 0.063 NULL pfam_Ubox_domain,smart_Ubox_domain,pfscan_Znf_RING - no_errors UBOX5 HGNC USP6 9098 genome.wustl.edu 37 17 5032143 5032143 + RNA SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 17 5032143 5032143 C T SNP USP6 ENST00000572429 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors USP6 HGNC VWA5B1 127731 genome.wustl.edu 37 1 20664309 20664309 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 1 20664309 20664309 C T SNP VWA5B1 ENST00000375089 human ensembl 70_37 +1 known missense c.2113 p.R705W 0.000 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA5B1 HGNC WDR93 56964 genome.wustl.edu 37 15 90276274 90276274 + Silent SNP T T C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 15 90276274 90276274 T C SNP WDR93 ENST00000268130 human ensembl 70_37 +1 known silent c.1368 p.C456 0.010 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors WDR93 HGNC XPR1 9213 genome.wustl.edu 37 1 180849254 180849254 + Silent SNP G G C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 1 180849254 180849254 G C SNP XPR1 ENST00000367590 human ensembl 70_37 +1 known silent c.1851 p.L617 1.000 pfam_EXS_C pfam_EXS_C,pfam_SPX_N - no_errors XPR1 HGNC YIPF5 81555 genome.wustl.edu 37 5 143541826 143541826 + Silent SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 5 143541826 143541826 C T SNP YIPF5 ENST00000274496 human ensembl 70_37 -1 known silent c.567 p.L189 0.993 pfam_Yip1 pfam_Yip1 - no_errors YIPF5 HGNC ZBBX 79740 genome.wustl.edu 37 3 167090668 167090668 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 3 167090668 167090668 C T SNP ZBBX ENST00000307529 human ensembl 70_37 -1 known missense c.22 p.V8I 1.000 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ZBTB18 10472 genome.wustl.edu 37 1 244217341 244217341 + Missense_Mutation SNP G G C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 1 244217341 244217341 G C SNP ZNF238 ENST00000358704 human ensembl 70_37 +1 known missense c.265 p.E89Q 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF238 HGNC ZNF24 7572 genome.wustl.edu 37 18 32920460 32920460 + Missense_Mutation SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 18 32920460 32920460 C T SNP ZNF24 ENST00000261332 human ensembl 70_37 -1 known missense c.155 p.R52Q 0.908 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF24 HGNC ZNF260 339324 genome.wustl.edu 37 19 37004907 37004907 + Missense_Mutation SNP G G C TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 19 37004907 37004907 G C SNP ZNF260 ENST00000523638 human ensembl 70_37 -1 known missense c.1234 p.H412D 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF260 HGNC ZNF284 342909 genome.wustl.edu 37 19 44590140 44590140 + Nonsense_Mutation SNP C C G TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 19 44590140 44590140 C G SNP ZNF284 ENST00000421176 human ensembl 70_37 +1 known nonsense c.509 p.S170* 0.123 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 ZNF284 HGNC ZNF559 84527 genome.wustl.edu 37 19 9449914 9449914 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 19 9449914 9449914 G A SNP ZNF559 ENST00000393883 human ensembl 70_37 +1 known missense c.79 p.E27K 0.150 pfam_Krueppel-associated_box,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 ZNF559 HGNC ZXDA 7789 genome.wustl.edu 37 X 57935544 57935544 + Silent SNP C C T TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 581bfb7a-017b-4f4e-aa60-effcc1fefa0e e99dca04-ac4c-47f2-8375-e5b63f1e11b4 X 57935544 57935544 C T SNP ZXDA ENST00000358697 human ensembl 70_37 -1 known silent c.1311 p.L437 0.996 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDA HGNC