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 ensembl_gene_id tier dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val LILRB1 0 genome.wustl.edu 37 19 55147089 55147089 + R SNP A A G TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 19 55147089 55147089 A G SNP LILRB1 ENST00000462628 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LILRB1 HGNC ENSG00000104972 tier1 - - 49 0 0.00 70 12 14.63 15 0 0.00 17 2 10.53 CPA2 0 genome.wustl.edu 37 7 129908843 129908843 + Missense_Mutation SNP A A T TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 7 129908843 129908843 A T SNP CPA2 ENST00000222481 human ensembl 74_37 +1 known missense c.146 p.H49L 0.996 pfam_Prot_inh_M14A,superfamily_Prot_inh_propept pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA2 HGNC ENSG00000158516 tier1 - - 59 0 0.00 44 12 21.43 103 0 0.00 85 45 34.62 CELSR1 0 genome.wustl.edu 37 22 46835181 46835181 + Missense_Mutation SNP C C A TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 22 46835181 46835181 C A SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.4311 p.R1437S 0.997 superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 tier1 - - 81 0 0.00 58 34 36.56 23 0 0.00 20 13 39.39 MAGEB16 0 genome.wustl.edu 37 X 35821013 35821013 + Missense_Mutation SNP G G T TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 X 35821013 35821013 G T SNP MAGEB16 ENST00000399992 human ensembl 74_37 +1 known missense c.796 p.V266L 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB16 HGNC ENSG00000189023 tier1 - - 16 0 0.00 12 20 62.50 32 0 0.00 29 17 36.96 ARHGEF28 0 genome.wustl.edu 37 5 73045768 73045768 + Missense_Mutation SNP C C T TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 5 73045768 73045768 C T SNP ARHGEF28 ENST00000545377 human ensembl 74_37 +1 known missense c.140 p.A47V 0.946 NULL 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 tier1 - - 25 0 0.00 40 12 23.08 75 0 0.00 85 15 15.00 PRAMEF12 0 genome.wustl.edu 37 1 12837633 12837633 + Missense_Mutation SNP T T A TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 1 12837633 12837633 T A SNP PRAMEF12 ENST00000357726 human ensembl 74_37 +1 known missense c.1343 p.I448N 0.000 NULL NULL - no_errors PRAMEF12 HGNC ENSG00000116726 tier1 - - 73 0 0.00 63 14 18.18 18 0 0.00 21 4 16.00 KIF16B 0 genome.wustl.edu 37 20 16385512 16385512 + Missense_Mutation SNP G G A TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 20 16385512 16385512 G A SNP KIF16B ENST00000408042 human ensembl 74_37 -1 known missense c.1730 p.T577I 0.998 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 tier1 - - 32 0 0.00 18 19 51.35 42 0 0.00 22 25 53.19 CEP170 0 genome.wustl.edu 37 1 243289697 243289697 + R SNP T T A TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 1 243289697 243289697 T A SNP CEP170 ENST00000466495 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CEP170 HGNC ENSG00000143702 tier1 - - 36 0 0.00 26 5 16.13 102 0 0.00 73 16 17.98 VIPAS39 0 genome.wustl.edu 37 14 77919693 77919693 + Missense_Mutation SNP C C T TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 14 77919693 77919693 C T SNP VIPAS39 ENST00000343765 human ensembl 74_37 -1 known missense c.145 p.D49N 1.000 pfam_Golgin_subfamily_A_member_5 pfam_Golgin_subfamily_A_member_5 - no_errors VIPAS39 HGNC ENSG00000151445 tier1 - - 53 0 0.00 42 14 25.00 65 0 0.00 52 18 25.71 GPR116 0 genome.wustl.edu 37 6 46832779 46832779 + Missense_Mutation SNP C C A TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 6 46832779 46832779 C A SNP GPR116 ENST00000265417 human ensembl 74_37 -1 known missense c.1990 p.G664W 1.000 NULL pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like - no_errors GPR116 HGNC ENSG00000069122 tier1 - - 54 0 0.00 51 15 22.73 102 0 0.00 59 28 32.18 CCPG1 0 genome.wustl.edu 37 15 55677813 55677813 + Nonsense_Mutation SNP G G A TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 15 55677813 55677813 G A SNP CCPG1 ENST00000310958 human ensembl 74_37 -1 known nonsense c.160 p.Q54* 0.004 NULL NULL - no_errors CCPG1 HGNC ENSG00000260916 tier1 - - 67 0 0.00 38 12 24.00 38 0 0.00 36 7 16.28 ECE2 0 genome.wustl.edu 37 3 184002758 184002758 + Missense_Mutation SNP C C T TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 3 184002758 184002758 C T SNP ECE2 ENST00000402825 human ensembl 74_37 +1 known missense c.1367 p.A456V 0.891 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C - no_errors ECE2 HGNC ENSG00000145194 tier1 - - 44 0 0.00 32 5 13.51 78 0 0.00 46 18 28.12 ITPK1 0 genome.wustl.edu 37 14 93408170 93408170 + Missense_Mutation SNP C C T TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 14 93408170 93408170 C T SNP ITPK1 ENST00000267615 human ensembl 74_37 -1 known missense c.981 p.M327I 0.000 NULL pfam_Inositol_tetrakis-P_1-kinase - no_errors ITPK1 HGNC ENSG00000100605 tier1 - - 22 0 0.00 19 82 80.39 23 0 0.00 12 38 76.00 EEA1 0 genome.wustl.edu 37 12 93171868 93171868 + Missense_Mutation SNP C C T TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 12 93171868 93171868 C T SNP EEA1 ENST00000322349 human ensembl 74_37 -1 known missense c.3742 p.E1248K 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors EEA1 HGNC ENSG00000102189 tier1 - - 46 0 0.00 45 10 18.18 76 0 0.00 56 17 23.29 PHKA2 0 genome.wustl.edu 37 X 18959720 18959720 + Missense_Mutation SNP G G A TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 X 18959720 18959720 G A SNP PHKA2 ENST00000379942 human ensembl 74_37 -1 known missense c.791 p.S264F 1.000 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 tier1 - - 27 0 0.00 28 5 15.15 46 0 0.00 35 6 14.29 GABRB2 0 genome.wustl.edu 37 5 160761819 160761819 + Missense_Mutation SNP T T A TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 5 160761819 160761819 T A SNP GABRB2 ENST00000274547 human ensembl 74_37 -1 known missense c.772 p.I258F 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel - no_errors GABRB2 HGNC ENSG00000145864 tier1 - - 78 0 0.00 42 12 22.22 111 0 0.00 46 12 20.69 ITGAD 0 genome.wustl.edu 37 16 31429830 31429830 + Missense_Mutation SNP G G C TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 16 31429830 31429830 G C SNP ITGAD ENST00000389202 human ensembl 74_37 +1 known missense c.2725 p.A909P 0.194 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAD HGNC ENSG00000156886 tier1 - - 27 0 0.00 17 6 26.09 68 0 0.00 35 19 35.19 CECR2 0 genome.wustl.edu 37 22 17978464 17978464 + Missense_Mutation SNP G G A TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 22 17978464 17978464 G A SNP CECR2 ENST00000400573 human ensembl 74_37 +1 novel missense c.362 p.R121H 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 tier1 - - 31 0 0.00 14 22 61.11 148 1 0.67 36 53 59.55 WDR83 0 genome.wustl.edu 37 19 12784098 12784098 + Missense_Mutation SNP G G A TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 19 12784098 12784098 G A SNP WDR83 ENST00000242796 human ensembl 74_37 +1 known missense c.766 p.D256N 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR83 HGNC ENSG00000123154 tier1 - - 16 0 0.00 13 7 35.00 84 0 0.00 54 9 14.29 FBXO5 0 genome.wustl.edu 37 6 153293621 153293621 + R SNP G G T TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 6 153293621 153293621 G T SNP FBXO5 ENST00000477822 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors FBXO5 HGNC ENSG00000112029 tier1 - - 13 0 0.00 70 24 25.53 79 0 0.00 258 84 24.56 MAL 0 genome.wustl.edu 37 2 95719133 95719133 + Missense_Mutation SNP C C T TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 2 95719133 95719133 C T SNP MAL ENST00000309988 human ensembl 74_37 +1 known missense c.395 p.S132F 0.144 pfam_Marvel,prints_MAL pfam_Marvel,prints_MAL - no_errors MAL HGNC ENSG00000172005 tier1 - - 62 0 0.00 50 33 39.76 107 0 0.00 101 41 28.87 OR4K5 0 genome.wustl.edu 37 14 20388807 20388807 + Silent SNP G G T TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 14 20388807 20388807 G T SNP OR4K5 ENST00000315915 human ensembl 74_37 +1 known silent c.42 p.L14 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K5 HGNC ENSG00000176281 tier1 - - 40 0 0.00 54 5 8.47 111 0 0.00 103 18 14.88 RP1 0 genome.wustl.edu 37 8 55537592 55537592 + Missense_Mutation SNP G G A TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 8 55537592 55537592 G A SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.1150 p.A384T 0.003 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 tier1 - - 43 0 0.00 45 7 13.46 67 1 1.47 42 18 30.00 ZNF605 0 genome.wustl.edu 37 12 133502016 133502016 + Silent SNP C C A TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 12 133502016 133502016 C A SNP ZNF605 ENST00000360187 human ensembl 74_37 -1 known silent c.1869 p.G623 0.445 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF605 HGNC ENSG00000196458 tier1 - - 47 0 0.00 23 8 25.81 70 0 0.00 34 6 15.00 FUK 0 genome.wustl.edu 37 16 70503093 70503093 + Silent SNP G G A TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 16 70503093 70503093 G A SNP FUK ENST00000378912 human ensembl 74_37 +1 known silent c.918 p.E306 0.796 pfam_Fucokinase pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase - no_errors FUK HGNC ENSG00000157353 tier1 - - 18 0 0.00 24 15 38.46 74 1 1.33 56 21 27.27 MCM3 0 genome.wustl.edu 37 6 52142390 52142390 + Missense_Mutation SNP C C T TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 6 52142390 52142390 C T SNP MCM3 ENST00000596288 human ensembl 74_37 -1 known missense c.1111 p.E371K 1.000 pfam_MCM_D-dep_ATPase,superfamily_P-loop_NTPase,smart_MCM_D-dep_ATPase,pfscan_MCM_D-dep_ATPase pfam_MCM_D-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_D-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_D-dep_ATPase,prints_MCM_D-dep_ATPase,prints_Mcm3 - no_errors MCM3 HGNC ENSG00000112118 tier1 - - 75 0 0.00 54 19 26.03 61 0 0.00 51 20 28.17 SLC17A8 0 genome.wustl.edu 37 12 100811922 100811922 + Missense_Mutation SNP G G C TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 12 100811922 100811922 G C SNP SLC17A8 ENST00000323346 human ensembl 74_37 +1 known missense c.1413 p.M471I 1.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A8 HGNC ENSG00000179520 tier1 - - 34 0 0.00 18 11 37.93 110 0 0.00 75 23 23.47 OVOL1 0 genome.wustl.edu 37 11 65562102 65562102 + Nonsense_Mutation SNP A A T TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 11 65562102 65562102 A T SNP OVOL1 ENST00000335987 human ensembl 74_37 +1 known nonsense c.412 p.K138* 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OVOL1 HGNC ENSG00000172818 tier1 - - 29 0 0.00 16 4 20.00 64 0 0.00 49 12 19.67 VIPAS39 0 genome.wustl.edu 37 14 77920424 77920424 + Missense_Mutation SNP C C T TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 14 77920424 77920424 C T SNP VIPAS39 ENST00000343765 human ensembl 74_37 -1 known missense c.22 p.E8K 1.000 NULL pfam_Golgin_subfamily_A_member_5 - no_errors VIPAS39 HGNC ENSG00000151445 tier1 - - 57 0 0.00 59 11 15.71 119 0 0.00 117 21 15.22 ANKRD18B 0 genome.wustl.edu 37 9 33566235 33566235 + Missense_Mutation SNP G G A TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 9 33566235 33566235 G A SNP ANKRD18B ENST00000290943 human ensembl 74_37 +1 known missense c.2293 p.E765K 0.000 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD18B HGNC ENSG00000230453 tier1 - - 78 0 0.00 86 21 19.63 21 0 0.00 13 7 35.00 PALLD 0 genome.wustl.edu 37 4 169846211 169846211 + Missense_Mutation SNP G G T TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 4 169846211 169846211 G T SNP PALLD ENST00000261509 human ensembl 74_37 +1 known missense c.3289 p.A1097S 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PALLD HGNC ENSG00000129116 tier1 - - 51 0 0.00 100 11 9.91 77 0 0.00 155 28 15.30 ATRX 0 genome.wustl.edu 37 X 76931772 76931772 + Nonsense_Mutation SNP G G C TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 X 76931772 76931772 G C SNP ATRX ENST00000373344 human ensembl 74_37 -1 known nonsense c.3758 p.S1253* 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 tier1 - - 17 0 0.00 6 12 66.67 47 0 0.00 17 23 57.50 DBT 0 genome.wustl.edu 37 1 100671856 100671856 + Missense_Mutation SNP A A G TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 1 100671856 100671856 A G SNP DBT ENST00000370132 human ensembl 74_37 -1 known missense c.1211 p.I404T 1.000 pfam_2-oxoacid_DH_actylTfrase pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl - no_errors DBT HGNC ENSG00000137992 tier1 - - 90 0 0.00 52 23 30.67 35 0 0.00 25 15 37.50 CORIN 0 genome.wustl.edu 37 4 47625635 47625635 + Silent SNP G G A TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 4 47625635 47625635 G A SNP CORIN ENST00000273857 human ensembl 74_37 -1 known silent c.2493 p.V831 0.992 pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors CORIN HGNC ENSG00000145244 tier1 - - 39 0 0.00 63 8 11.11 90 0 0.00 110 14 11.29 MUC16 0 genome.wustl.edu 37 19 9080536 9080536 + Silent SNP C C A TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 19 9080536 9080536 C A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.9495 p.V3165 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 75 0 0.00 102 13 11.30 63 0 0.00 89 16 15.24 LMNB1 0 genome.wustl.edu 37 5 126154807 126154807 + Missense_Mutation SNP G G A TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 5 126154807 126154807 G A SNP LMNB1 ENST00000261366 human ensembl 74_37 +1 known missense c.1133 p.R378K 1.000 pfam_IF pfam_IF,pfam_Lamin_tail_dom - no_errors LMNB1 HGNC ENSG00000113368 tier1 - - 21 0 0.00 15 25 62.50 94 0 0.00 66 75 53.19 COL4A6 0 genome.wustl.edu 37 X 107415762 107415762 + Missense_Mutation SNP C C A TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 X 107415762 107415762 C A SNP COL4A6 ENST00000372216 human ensembl 74_37 -1 known missense c.3142 p.G1048C 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 tier1 - - 29 0 0.00 20 11 35.48 46 0 0.00 41 18 30.51 CFHR4 0 genome.wustl.edu 37 1 196876137 196876137 + Missense_Mutation SNP G G A TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 1 196876137 196876137 G A SNP CFHR4 ENST00000367416 human ensembl 74_37 +1 known missense c.583 p.D195N 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR4 HGNC ENSG00000134365 tier1 - - 102 0 0.00 103 22 17.60 59 0 0.00 74 13 14.94 ZNF284 0 genome.wustl.edu 37 19 44590253 44590254 + Frame_Shift_Ins INS - - G TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 - - - G - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 19 44590253 44590254 - G INS ZNF284 ENST00000421176 human ensembl 74_37 +1 known frame_shift_ins c.622_623 p.C208fs 0.992:1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF284 HGNC ENSG00000186026 tier1 29 0 0.00 28 4 12.50 81 0 0.00 64 17 20.99 NTM 0 genome.wustl.edu 37 11 132206330 132206330 + R SNP G G A TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 11 132206330 132206330 G A SNP NTM ENST00000474900 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NTM HGNC ENSG00000182667 tier1 - - 14 0 0.00 7 6 46.15 26 0 0.00 9 2 18.18 RRN3 0 genome.wustl.edu 37 16 15188050 15188050 + Missense_Mutation SNP G G C TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 16 15188050 15188050 G C SNP RRN3 ENST00000198767 human ensembl 74_37 -1 known missense c.41 p.A14G 0.021 NULL pfam_R_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold - no_errors RRN3 HGNC ENSG00000085721 tier1 - - 67 0 0.00 58 32 35.56 9 0 0.00 7 6 46.15 AGAP2 0 genome.wustl.edu 37 12 58131125 58131125 + Missense_Mutation SNP G G A TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 12 58131125 58131125 G A SNP AGAP2 ENST00000547588 human ensembl 74_37 -1 known missense c.905 p.A302V 0.002 NULL pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP2 HGNC ENSG00000135439 tier1 - - 126 0 0.00 1492 168 10.10 12 0 0.00 212 10 4.50 KRBA1 0 genome.wustl.edu 37 7 149422472 149422472 + Missense_Mutation SNP G G T TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 7 149422472 149422472 G T SNP KRBA1 ENST00000255992 human ensembl 74_37 +1 known missense c.1193 p.G398V 0.000 NULL NULL - no_errors KRBA1 HGNC ENSG00000133619 tier1 - - 40 0 0.00 29 8 21.62 121 0 0.00 75 8 9.64 DAB2 0 genome.wustl.edu 37 5 39394370 39394370 + Missense_Mutation SNP G G C TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 5 39394370 39394370 G C SNP DAB2 ENST00000320816 human ensembl 74_37 -1 known missense c.53 p.A18G 0.995 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB2 HGNC ENSG00000153071 tier1 - - 35 0 0.00 85 13 13.27 61 0 0.00 97 7 6.73 ANKRD31 0 genome.wustl.edu 37 5 74400097 74400097 + Nonsense_Mutation SNP C C A TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 5 74400097 74400097 C A SNP ANKRD31 ENST00000274361 human ensembl 74_37 -1 known nonsense c.5116 p.G1706* 0.997 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD31 HGNC ENSG00000145700 tier1 - - 70 0 0.00 86 16 15.69 55 0 0.00 61 4 6.15 AGAP2 0 genome.wustl.edu 37 12 58131104 58131104 + Missense_Mutation SNP G G A TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 12 58131104 58131104 G A SNP AGAP2 ENST00000547588 human ensembl 74_37 -1 known missense c.926 p.S309F 0.951 NULL pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP2 HGNC ENSG00000135439 tier1 - - 109 0 0.00 1307 163 11.09 11 0 0.00 204 9 4.21 DCSTAMP 0 genome.wustl.edu 37 8 105367287 105367287 + Silent SNP G G A TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 8 105367287 105367287 G A SNP DCSTAMP ENST00000297581 human ensembl 74_37 +1 known silent c.1212 p.V404 0.997 pfam_DC_STAMP-like,superfamily_ABC1_TM_dom pfam_DC_STAMP-like,superfamily_ABC1_TM_dom - no_errors DCSTAMP HGNC ENSG00000164935 tier1 - - 48 0 0.00 41 11 21.15 68 0 0.00 83 8 8.79 PNPLA4 0 genome.wustl.edu 37 X 7894060 7894060 + Missense_Mutation SNP T T G TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 X 7894060 7894060 T G SNP PNPLA4 ENST00000381042 human ensembl 74_37 -1 known missense c.101 p.K34T 0.128 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA4 HGNC ENSG00000006757 tier1 - - 21 0 0.00 19 5 20.83 35 0 0.00 69 6 8.00 CTGF 0 genome.wustl.edu 37 6 132271222 132271222 + Missense_Mutation SNP C C T TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 6 132271222 132271222 C T SNP CTGF ENST00000367976 human ensembl 74_37 -1 known missense c.620 p.S207N 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pirsf_IGFBP_CNN,pfscan_Thrombospondin_1_rpt pfam_Cys_knot,pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors CTGF HGNC ENSG00000118523 tier1 - - 39 0 0.00 69 9 11.54 124 0 0.00 219 16 6.81 RAET1G 0 genome.wustl.edu 37 6 150240213 150240213 + Missense_Mutation SNP C C A TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 6 150240213 150240213 C A SNP RAET1G ENST00000367360 human ensembl 74_37 -1 known missense c.597 p.M199I 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors RAET1G HGNC ENSG00000203722 tier1 - - 52 0 0.00 86 12 12.24 67 0 0.00 112 10 8.20 BGLAP 0 genome.wustl.edu 37 1 156212062 156212062 + Missense_Mutation SNP G G A TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 1 156212062 156212062 G A SNP BGLAP ENST00000368272 human ensembl 74_37 +1 known missense c.40 p.A14T 0.003 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_Osteocalcin/MGP - no_errors BGLAP HGNC ENSG00000242252 tier1 - - 16 0 0.00 17 18 51.43 6 0 0.00 3 0 0.00 FAM228A 0 genome.wustl.edu 37 2 24423529 24423530 + Frame_Shift_Del DEL AA AA - TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 2 24423529 24423530 AA - DEL FAM228A ENST00000415196 human ensembl 74_37 +1 novel frame_shift_del c.327_328 p.R111fs 0.000:0.011 NULL NULL - no_errors FAM228A HGNC ENSG00000186453 tier1 25 0 0.00 22 7 24.14 10 0 0.00 7 0 0.00 R5-8SP6 0 genome.wustl.edu 37 Y 10037819 10037819 + R SNP T T G TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 Y 10037819 10037819 T G SNP R5-8SP6 ENST00000515896 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors R5-8SP6 HGNC ENSG00000251705 tier1 - - 85 0 0.00 51 5 8.93 8 0 0.00 4 0 0.00 R5-8SP6 0 genome.wustl.edu 37 Y 10037835 10037835 + R SNP T T C TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 Y 10037835 10037835 T C SNP R5-8SP6 ENST00000515896 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors R5-8SP6 HGNC ENSG00000251705 tier1 - - 85 0 0.00 52 5 8.77 5 0 0.00 6 0 0.00 DCAF8L2 0 genome.wustl.edu 37 X 27765613 27765613 + Missense_Mutation SNP C C A TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 X 27765613 27765613 C A SNP DCAF8L2 ENST00000451261 human ensembl 74_37 +1 known missense c.601 p.R201S 0.003 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L2 HGNC ENSG00000189186 tier1 - - 23 0 0.00 10 22 68.75 3 0 0.00 3 1 25.00 ENSG00000221664 0 genome.wustl.edu 37 1 77857162 77857163 + R INS - - TGTA TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 1 77857162 77857163 - TGTA INS ENSG00000221664 ENST00000408737 human ensembl 74_37 -1 novel rna NULL NULL 0.991:0.991 - - - no_errors AC095030.1 Clone_based_ensembl_gene ENSG00000221664 tier1 30 0 0.00 25 5 16.67 0 0 0.00 0 0 0.00 ENSG00000227175 0 genome.wustl.edu 37 10 13570570 13570584 + R DEL GCGGCAGCGGCGGCA GCGGCAGCGGCGGCA - TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 GCGGCAGCGGCGGCA GCGGCAGCGGCGGCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 10 13570570 13570584 GCGGCAGCGGCGGCA - DEL ENSG00000227175 ENST00000438431 human ensembl 74_37 +1 known rna NULL NULL 0.005:0.008:0.010:0.011:0.013:0.013:0.014:0.014:0.013:0.013:0.012:0.010:0.008:0.006:0.003 - - - no_errors RP11-214D15.2 Clone_based_vega_gene ENSG00000227175 tier1 0 0 0.00 0 1 100.00 0 0 0.00 0 1 100.00 LILRB5 0 genome.wustl.edu 37 19 54759174 54759174 + Silent SNP G G A TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 19 54759174 54759174 G A SNP LILRB5 ENST00000450632 human ensembl 74_37 -1 known silent c.900 p.S300 0.822 smart_Ig_sub smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB5 HGNC ENSG00000105609 tier1 - - 125 1 0.79 130 25 16.13 2 0 0.00 0 1 100.00 MT-CO2 0 genome.wustl.edu 37 MT 7595 7595 + Missense_Mutation SNP G G A TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 MT 7595 7595 G A SNP MT-CO2 ENST00000361739 human ensembl 74_37 +1 known missense c.10 p.A4T NULL pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 - no_errors MT-CO2 HGNC ENSG00000198712 tier1 - - 418 0 0.00 614 67 9.84 2 0 0.00 1 0 0.00 NOTCH3 0 genome.wustl.edu 37 19 15285085 15285085 + Silent SNP G G A TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 19 15285085 15285085 G A SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known silent c.4530 p.R1510 0.171 pirsf_Notch,pfam_Notch_NOD_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 tier1 - - 37 0 0.00 31 6 16.22 1 0 0.00 2 0 0.00 R5-8SP6 0 genome.wustl.edu 37 Y 10037863 10037863 + R DEL C C - TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 Y 10037863 10037863 C - DEL R5-8SP6 ENST00000515896 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors R5-8SP6 HGNC ENSG00000251705 tier1 80 0 0.00 44 5 10.20 4 0 0.00 4 0 0.00 R5-8SP6 0 genome.wustl.edu 37 Y 10037867 10037867 + R SNP C C T TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 Y 10037867 10037867 C T SNP R5-8SP6 ENST00000515896 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors R5-8SP6 HGNC ENSG00000251705 tier1 - - 78 0 0.00 36 11 23.40 4 0 0.00 4 0 0.00 TRIM48 0 genome.wustl.edu 37 11 55036763 55036763 + Silent SNP G G A TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 11 55036763 55036763 G A SNP TRIM48 ENST00000417545 human ensembl 74_37 +1 known silent c.624 p.A208 0.036 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM48 HGNC ENSG00000150244 tier1 rs201463527 - 171 0 0.00 118 42 26.25 0 0 0.00 0 0 0.00 XKRX 0 genome.wustl.edu 37 X 100182986 100182986 + Missense_Mutation SNP T T G TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 X 100182986 100182986 T G SNP XKRX ENST00000328526 human ensembl 74_37 -1 known missense c.347 p.H116P 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKRX HGNC ENSG00000182489 tier1 - - 51 0 0.00 75 7 8.54 71 0 0.00 53 3 5.36 UBE3B 0 genome.wustl.edu 37 12 109949045 109949045 + Silent SNP C C T TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 12 109949045 109949045 C T SNP UBE3B ENST00000342494 human ensembl 74_37 +1 known silent c.1893 p.D631 1.000 NULL pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 tier1 - - 39 0 0.00 37 4 9.76 106 0 0.00 96 2 2.02 F8 0 genome.wustl.edu 37 X 154197706 154197706 + Silent SNP C C T TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ac8e72b9-4469-4d80-a5a0-df3fc36380ff 25e4da82-09d2-4931-b4ca-50d5f74599d1 X 154197706 154197706 C T SNP F8 ENST00000360256 human ensembl 74_37 -1 known silent c.909 p.A303 0.891 superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 tier1 - - 27 0 0.00 22 4 14.81 57 0 0.00 48 2 4.00