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 SLC9B1P2 0 genome.wustl.edu 37 2 92102188 92102188 + R SNP T T A TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 2 92102188 92102188 T A SNP SLC9B1P2 ENST00000606405 human ensembl 74_37 -1 known rna NULL NULL 0.854 - - - no_errors SLC9B1P2 HGNC ENSG00000214329 tier1 - - 315 1 0.32 390 101 20.53 36 0 0.00 26 3 10.34 TRDN 0 genome.wustl.edu 37 6 123824870 123824870 + Missense_Mutation SNP G G C TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 6 123824870 123824870 G C SNP TRDN ENST00000398178 human ensembl 74_37 -1 known missense c.787 p.Q263E 1.000 pfam_Asp-B-hydro/Triadin_dom pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC ENSG00000186439 tier1 - - 47 0 0.00 31 57 64.77 76 0 0.00 22 66 75.00 LILRP2 0 genome.wustl.edu 37 19 55220578 55220578 + R SNP T T A TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 19 55220578 55220578 T A SNP LILRP2 ENST00000413439 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors LILRP2 HGNC ENSG00000170858 tier1 - - 61 0 0.00 21 42 66.67 115 0 0.00 33 41 54.67 ENSG00000226716 0 genome.wustl.edu 37 1 152097427 152097427 + R SNP C C T TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 1 152097427 152097427 C T SNP ENSG00000226716 ENST00000429230 human ensembl 74_37 +1 known rna NULL NULL 0.250 - - - no_errors AL589986.2 Clone_based_vega_gene ENSG00000226716 tier1 - - 22 0 0.00 26 18 40.91 98 0 0.00 61 96 60.76 IL12RB2 0 genome.wustl.edu 37 1 67787498 67787498 + Missense_Mutation SNP C C T TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 1 67787498 67787498 C T SNP IL12RB2 ENST00000262345 human ensembl 74_37 +1 known missense c.290 p.T97I 0.385 pfam_IgC2-like_lig-bd pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB2 HGNC ENSG00000081985 tier1 - - 54 0 0.00 63 17 21.25 120 0 0.00 90 23 20.35 SLIT2 0 genome.wustl.edu 37 4 20611715 20611715 + Missense_Mutation SNP G G A TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 4 20611715 20611715 G A SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.3772 p.G1258S 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 tier1 - - 71 0 0.00 38 30 44.12 130 0 0.00 49 49 50.00 STK17B 0 genome.wustl.edu 37 2 197028100 197028100 + Missense_Mutation SNP C C T TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 2 197028100 197028100 C T SNP STK17B ENST00000263955 human ensembl 74_37 -1 known missense c.8 p.R3K 0.982 NULL pfam_Prot_kinase_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_dom - no_errors STK17B HGNC ENSG00000081320 tier1 - - 125 0 0.00 129 44 25.43 132 0 0.00 90 24 20.87 OR2F1 0 genome.wustl.edu 37 7 143658017 143658017 + Nonstop_Mutation SNP A A G TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 7 143658017 143658017 A G SNP OR2F1 ENST00000392899 human ensembl 74_37 +1 known nonstop c.954 p.*318W 0.360 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2F1 HGNC ENSG00000213215 tier1 - - 51 0 0.00 36 20 35.71 86 0 0.00 27 35 56.45 INSL4 0 genome.wustl.edu 37 9 5233767 5233767 + Missense_Mutation SNP T T A TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 9 5233767 5233767 T A SNP INSL4 ENST00000239316 human ensembl 74_37 +1 known missense c.310 p.L104M 0.001 superfamily_Insulin-like superfamily_Insulin-like,prints_Placentin,prints_Relaxin - no_errors INSL4 HGNC ENSG00000120211 tier1 - - 63 0 0.00 34 35 50.72 147 1 0.68 46 43 47.78 ELL2 0 genome.wustl.edu 37 5 95249513 95249513 + Missense_Mutation SNP C C G TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 5 95249513 95249513 C G SNP ELL2 ENST00000237853 human ensembl 74_37 -1 known missense c.443 p.R148P 1.000 pfam_R_pol_II_elong_fac_ELL pfam_R_pol_II_elong_fac_ELL,pfam_Occludin_Rpol2_elong_fac_ELL - no_errors ELL2 HGNC ENSG00000118985 tier1 - - 52 0 0.00 31 27 46.55 50 0 0.00 17 16 48.48 ENSG00000206567 0 genome.wustl.edu 37 3 10049212 10049212 + R SNP G G A TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 3 10049212 10049212 G A SNP ENSG00000206567 ENST00000383808 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors AC022007.5 Clone_based_vega_gene ENSG00000206567 tier1 - - 44 0 0.00 30 21 41.18 53 0 0.00 11 14 56.00 PDE4DIP 0 genome.wustl.edu 37 1 144853254 144853254 + R SNP A A G TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 1 144853254 144853254 A G SNP PDE4DIP ENST00000526182 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PDE4DIP HGNC ENSG00000178104 tier1 - - 122 1 0.81 126 43 25.44 96 0 0.00 63 33 34.38 ZFC3H1 0 genome.wustl.edu 37 12 72038834 72038834 + Missense_Mutation SNP C C G TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 12 72038834 72038834 C G SNP ZFC3H1 ENST00000378743 human ensembl 74_37 -1 known missense c.1102 p.E368Q 1.000 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ENSG00000133858 tier1 - - 64 0 0.00 73 20 21.51 110 0 0.00 93 15 13.89 PIDD 0 genome.wustl.edu 37 11 803282 803282 + Missense_Mutation SNP G G C TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 11 803282 803282 G C SNP PIDD ENST00000347755 human ensembl 74_37 -1 known missense c.601 p.L201V 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Peptidase_S68_pidd,pfam_Death_domain,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5 - no_errors PIDD HGNC ENSG00000177595 tier1 - - 59 0 0.00 37 16 30.19 33 0 0.00 15 3 16.67 PPARGC1A 0 genome.wustl.edu 37 4 23833358 23833358 + Missense_Mutation SNP T T A TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 4 23833358 23833358 T A SNP PPARGC1A ENST00000264867 human ensembl 74_37 -1 known missense c.251 p.N84I 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1A HGNC ENSG00000109819 tier1 - - 39 0 0.00 33 16 32.65 76 0 0.00 24 25 51.02 SNORD3A 0 genome.wustl.edu 37 17 19091345 19091345 + R SNP G G A TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 17 19091345 19091345 G A SNP SNORD3A ENST00000365494 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORD3A HGNC ENSG00000263934 tier1 - - 176 0 0.00 65 54 45.38 149 0 0.00 34 12 26.09 PASK 0 genome.wustl.edu 37 2 242062177 242062177 + Nonsense_Mutation SNP C C T TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 2 242062177 242062177 C T SNP PASK ENST00000358649 human ensembl 74_37 -1 known nonsense c.3042 p.W1014* 1.000 pfam_Prot_kinase_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_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,superfamily_PAS,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_dom,tigrfam_PAS - no_errors PASK HGNC ENSG00000115687 tier1 - - 36 0 0.00 42 54 56.25 93 0 0.00 53 42 44.21 SYT8 0 genome.wustl.edu 37 11 1852913 1852913 + Missense_Mutation SNP G G C TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 11 1852913 1852913 G C SNP SYT8 ENST00000535046 human ensembl 74_37 +1 known missense c.231 p.E77D 0.004 NULL NULL - no_errors SYT8 HGNC ENSG00000149043 tier1 - - 83 0 0.00 76 27 26.21 51 0 0.00 14 5 26.32 LCE6A 0 genome.wustl.edu 37 1 152816161 152816161 + Missense_Mutation SNP G G C TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 1 152816161 152816161 G C SNP LCE6A ENST00000431011 human ensembl 74_37 +1 known missense c.165 p.R55S 0.000 NULL NULL - no_errors LCE6A HGNC ENSG00000235942 tier1 - - 51 0 0.00 98 10 9.26 92 0 0.00 108 22 16.92 HSD17B11 0 genome.wustl.edu 37 4 88303510 88303510 + Missense_Mutation SNP C C T TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 4 88303510 88303510 C T SNP HSD17B11 ENST00000358290 human ensembl 74_37 -1 known missense c.215 p.G72E 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B11 HGNC ENSG00000198189 tier1 - - 85 0 0.00 75 7 8.54 119 0 0.00 73 10 12.05 PRKDC 0 genome.wustl.edu 37 8 48765289 48765289 + Missense_Mutation SNP G G C TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 8 48765289 48765289 G C SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.6947 p.A2316G 1.000 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 tier1 - - 48 0 0.00 58 19 24.68 69 0 0.00 49 6 10.91 TIPARP 0 genome.wustl.edu 37 3 156396350 156396350 + Silent SNP C C T TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 3 156396350 156396350 C T SNP TIPARP ENST00000295924 human ensembl 74_37 +1 known silent c.864 p.H288 1.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors TIPARP HGNC ENSG00000163659 tier1 - - 51 0 0.00 15 15 50.00 129 1 0.76 43 47 52.22 PI4KB 0 genome.wustl.edu 37 1 151288732 151288732 + Nonsense_Mutation SNP C C A TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 1 151288732 151288732 C A SNP PI4KB ENST00000271657 human ensembl 74_37 -1 known nonsense c.262 p.E88* 0.991 NULL pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KB HGNC ENSG00000143393 tier1 - - 27 0 0.00 27 6 18.18 73 0 0.00 104 13 11.02 CCDC27 0 genome.wustl.edu 37 1 3683994 3683994 + Missense_Mutation SNP G G C TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 1 3683994 3683994 G C SNP CCDC27 ENST00000294600 human ensembl 74_37 +1 known missense c.1728 p.E576D 0.288 NULL superfamily_Prefoldin - no_errors CCDC27 HGNC ENSG00000162592 tier1 - - 28 0 0.00 16 16 50.00 46 0 0.00 20 15 42.86 ENSG00000268823 0 genome.wustl.edu 37 19 22786189 22786189 + R SNP C C T TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 19 22786189 22786189 C T SNP ENSG00000268823 ENST00000599738 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CTC-457E21.6 Clone_based_vega_gene ENSG00000268823 tier1 - - 38 0 0.00 50 22 30.56 48 0 0.00 31 8 20.51 CNGB1 0 genome.wustl.edu 37 16 57954314 57954314 + Missense_Mutation SNP G G T TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 16 57954314 57954314 G T SNP CNGB1 ENST00000251102 human ensembl 74_37 -1 known missense c.1778 p.S593Y 1.000 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 tier1 - - 57 0 0.00 40 29 42.03 82 0 0.00 35 29 45.31 C9orf139 0 genome.wustl.edu 37 9 139927527 139927527 + Silent SNP G G T TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 9 139927527 139927527 G T SNP C9orf139 ENST00000314330 human ensembl 74_37 +1 known silent c.12 p.R4 0.006 NULL NULL - no_errors C9orf139 HGNC ENSG00000180539 tier1 - - 36 0 0.00 38 7 15.56 27 0 0.00 18 6 25.00 ABT1 0 genome.wustl.edu 37 6 26597314 26597314 + Missense_Mutation SNP C C T TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 6 26597314 26597314 C T SNP ABT1 ENST00000274849 human ensembl 74_37 +1 known missense c.104 p.A35V 0.001 NULL NULL - no_errors ABT1 HGNC ENSG00000146109 tier1 - - 33 0 0.00 46 27 36.99 29 0 0.00 40 8 16.33 SLC4A1 0 genome.wustl.edu 37 17 42327873 42327873 + Nonsense_Mutation SNP C C A TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 17 42327873 42327873 C A SNP SLC4A1 ENST00000262418 human ensembl 74_37 -1 known nonsense c.2689 p.E897* 1.000 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk - no_errors SLC4A1 HGNC ENSG00000004939 tier1 - - 53 0 0.00 36 17 32.08 69 0 0.00 28 21 42.86 CTCF 0 genome.wustl.edu 37 16 67644737 67644737 + Missense_Mutation SNP T T C TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 16 67644737 67644737 T C SNP CTCF ENST00000264010 human ensembl 74_37 +1 known missense c.2 p.M1T 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC ENSG00000102974 tier1 - - 99 0 0.00 64 54 45.76 92 0 0.00 47 36 42.86 LRRK2 0 genome.wustl.edu 37 12 40688653 40688653 + Missense_Mutation SNP A A G TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 12 40688653 40688653 A G SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.2815 p.I939V 0.303 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 tier1 - - 118 0 0.00 40 48 54.55 64 0 0.00 17 40 70.18 CKLF 0 genome.wustl.edu 37 16 66597032 66597032 + Missense_Mutation SNP T T A TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 16 66597032 66597032 T A SNP CKLF ENST00000264001 human ensembl 74_37 +1 known missense c.245 p.I82N 1.000 NULL NULL - no_errors CKLF HGNC ENSG00000217555 tier1 - - 71 0 0.00 46 33 41.77 105 0 0.00 52 37 41.57 SYNE2 0 genome.wustl.edu 37 14 64465047 64465047 + Splice_Site SNP G G A TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 14 64465047 64465047 G A SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known splice_site c.3353+1 e25+1 1.000 - - - no_errors SYNE2 HGNC ENSG00000054654 tier1 - - 79 0 0.00 92 8 8.00 126 0 0.00 89 12 11.88 RNF219 0 genome.wustl.edu 37 13 79190272 79190272 + Missense_Mutation SNP C C G TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 13 79190272 79190272 C G SNP RNF219 ENST00000282003 human ensembl 74_37 -1 known missense c.1624 p.D542H 1.000 NULL pfscan_Znf_RING - no_errors RNF219 HGNC ENSG00000152193 tier1 - - 39 0 0.00 21 10 32.26 137 1 0.72 62 26 29.55 KC3 0 genome.wustl.edu 37 1 111215812 111215812 + Silent SNP G G A TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 1 111215812 111215812 G A SNP KC3 ENST00000369769 human ensembl 74_37 -1 known silent c.1620 p.S540 0.998 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KC3 HGNC ENSG00000177272 tier1 - - 64 0 0.00 41 35 45.45 141 0 0.00 57 40 41.24 NOL10 0 genome.wustl.edu 37 2 10811749 10811749 + Missense_Mutation SNP C C G TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 2 10811749 10811749 C G SNP NOL10 ENST00000381685 human ensembl 74_37 -1 known missense c.395 p.R132T 1.000 superfamily_WD40_repeat_dom pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors NOL10 HGNC ENSG00000115761 tier1 - - 81 0 0.00 63 44 41.12 115 0 0.00 72 37 33.94 LRRIQ3 0 genome.wustl.edu 37 1 74549765 74549765 + R SNP C C A TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 1 74549765 74549765 C A SNP LRRIQ3 ENST00000468759 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors LRRIQ3 HGNC ENSG00000162620 tier1 - - 37 0 0.00 30 11 26.83 102 0 0.00 55 18 24.66 PIDD 0 genome.wustl.edu 37 11 803302 803302 + Missense_Mutation SNP G G T TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 11 803302 803302 G T SNP PIDD ENST00000347755 human ensembl 74_37 -1 known missense c.581 p.S194Y 0.000 smart_Leu-rich_rpt_typical-subtyp pfam_Peptidase_S68_pidd,pfam_Death_domain,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5 - no_errors PIDD HGNC ENSG00000177595 tier1 - - 65 0 0.00 39 20 33.90 31 0 0.00 16 3 15.79 MKL2 0 genome.wustl.edu 37 16 14340547 14340547 + Missense_Mutation SNP C C T TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 16 14340547 14340547 C T SNP MKL2 ENST00000341243 human ensembl 74_37 +1 known missense c.1397 p.S466L 0.090 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL2 HGNC ENSG00000186260 tier1 - - 58 0 0.00 35 37 51.39 94 0 0.00 39 28 41.79 HOXC8 0 genome.wustl.edu 37 12 54403298 54403298 + Missense_Mutation SNP G G T TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 12 54403298 54403298 G T SNP HOXC8 ENST00000040584 human ensembl 74_37 +1 known missense c.230 p.C77F 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif - no_errors HOXC8 HGNC ENSG00000037965 tier1 - - 67 0 0.00 50 24 32.00 31 0 0.00 19 3 13.64 MTHFS 0 genome.wustl.edu 37 15 80181626 80181626 + Missense_Mutation SNP T T C TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 15 80181626 80181626 T C SNP MTHFS ENST00000258874 human ensembl 74_37 -1 known missense c.188 p.E63G 0.994 pfam_FTHF_cligase,pirsf_FTHF_cligase,tigrfam_FTHF_cligase pfam_FTHF_cligase,pirsf_FTHF_cligase,tigrfam_FTHF_cligase - no_errors MTHFS HGNC ENSG00000136371 tier1 - - 89 0 0.00 45 41 47.67 69 0 0.00 23 22 48.89 PASK 0 genome.wustl.edu 37 2 242062301 242062301 + Missense_Mutation SNP C C T TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 2 242062301 242062301 C T SNP PASK ENST00000358649 human ensembl 74_37 -1 known missense c.2918 p.R973K 0.010 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,superfamily_PAS,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_dom,tigrfam_PAS - no_errors PASK HGNC ENSG00000115687 tier1 - - 32 0 0.00 40 38 48.72 65 0 0.00 57 29 33.72 VCP 0 genome.wustl.edu 37 9 35060455 35060455 + Missense_Mutation SNP T T C TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 9 35060455 35060455 T C SNP VCP ENST00000358901 human ensembl 74_37 -1 known missense c.1550 p.Y517C 1.000 pfam_ATPase_AAA_core,pfam_D_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48 pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_D_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48 - no_errors VCP HGNC ENSG00000165280 tier1 - - 48 0 0.00 45 28 38.36 132 0 0.00 52 53 50.48 STK17B 0 genome.wustl.edu 37 2 197028089 197028089 + Missense_Mutation SNP C C G TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 2 197028089 197028089 C G SNP STK17B ENST00000263955 human ensembl 74_37 -1 known missense c.19 p.D7H 1.000 NULL pfam_Prot_kinase_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_dom - no_errors STK17B HGNC ENSG00000081320 tier1 - - 118 0 0.00 126 41 24.55 134 1 0.74 89 24 21.24 CALCB 0 genome.wustl.edu 37 11 15098923 15098923 + Missense_Mutation SNP A A T TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 11 15098923 15098923 A T SNP CALCB ENST00000324229 human ensembl 74_37 +1 known missense c.316 p.S106C 1.000 pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Calcitonin_gene-rel_peptide,prints_Pro-islet_amyloid_polypep pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Calcitonin_gene-rel_peptide,prints_Pro-islet_amyloid_polypep - no_errors CALCB HGNC ENSG00000175868 tier1 - - 27 0 0.00 7 33 82.50 14 0 0.00 3 3 50.00 CTR9 0 genome.wustl.edu 37 11 10772978 10772978 + Missense_Mutation SNP G G C TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 11 10772978 10772978 G C SNP CTR9 ENST00000361367 human ensembl 74_37 +1 known missense c.19 p.E7Q 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CTR9 HGNC ENSG00000198730 tier1 - - 45 0 0.00 38 8 17.39 36 0 0.00 9 2 18.18 MYH3 0 genome.wustl.edu 37 17 10533415 10533415 + Silent SNP C C T TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 17 10533415 10533415 C T SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known silent c.5556 p.T1852 0.172 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 tier1 - - 63 0 0.00 1 41 97.62 123 0 0.00 7 50 87.72 NRDE2 0 genome.wustl.edu 37 14 90798307 90798307 + R SNP G G T TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 14 90798307 90798307 G T SNP NRDE2 ENST00000557106 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NRDE2 HGNC ENSG00000119720 tier1 - - 26 0 0.00 28 11 28.21 11 0 0.00 9 4 30.77 ZSWIM4 0 genome.wustl.edu 37 19 13915823 13915823 + Frame_Shift_Del DEL G G - TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 19 13915823 13915823 G - DEL ZSWIM4 ENST00000254323 human ensembl 74_37 +1 known frame_shift_del c.573 p.L192fs 0.091 NULL pfscan_Znf_SWIM - no_errors ZSWIM4 HGNC ENSG00000132003 tier1 26 0 0.00 13 4 23.53 21 0 0.00 6 5 45.45 F8 0 genome.wustl.edu 37 X 154159234 154159234 + Missense_Mutation SNP T T G TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 X 154159234 154159234 T G SNP F8 ENST00000360256 human ensembl 74_37 -1 known missense c.2831 p.K944T 0.028 NULL 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 - - 28 0 0.00 35 4 10.26 121 1 0.82 64 5 7.25 GPHN 0 genome.wustl.edu 37 14 67647600 67647600 + Silent SNP C C T TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 14 67647600 67647600 C T SNP GPHN ENST00000478722 human ensembl 74_37 +1 known silent c.2256 p.Y752 0.174 pfam_MoeA_C_domain_IV,superfamily_MoeA_C_domain_IV pfam_Mopterin-bd_dom,pfam_MoeA_linker/N,pfam_MoeA_C_domain_IV,superfamily_MoeA_linker/N,superfamily_Mopterin-bd_dom,superfamily_MoeA_C_domain_IV,smart_Mopterin-bd_dom,tigrfam_Mo_cofactor_synthesis - no_errors GPHN HGNC ENSG00000171723 tier1 - - 50 0 0.00 65 10 13.33 114 0 0.00 96 7 6.80 FAT1 0 genome.wustl.edu 37 4 187629366 187629366 + Missense_Mutation SNP C C T TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 4 187629366 187629366 C T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.1616 p.R539H 0.973 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 tier1 - - 39 0 0.00 35 8 18.60 150 0 0.00 86 7 7.53 LRP8 0 genome.wustl.edu 37 1 53728180 53728180 + Missense_Mutation SNP T T C TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 1 53728180 53728180 T C SNP LRP8 ENST00000306052 human ensembl 74_37 -1 known missense c.1712 p.N571S 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP8 HGNC ENSG00000157193 tier1 rs201950519 - 85 0 0.00 60 49 44.95 141 2 1.40 59 62 51.24 ENSG00000265803 0 genome.wustl.edu 37 6 158596076 158596077 + R INS - - TGTGTATATATGTGTGTGTGTGTGTGTGTGTGTA TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 6 158596076 158596077 - TGTGTATATATGTGTGTGTGTGTGTGTGTGTGTA INS ENSG00000265803 ENST00000580588 human ensembl 74_37 +1 novel rna NULL NULL 0.000:0.000 - - - no_errors AL590703.1 Clone_based_ensembl_gene ENSG00000265803 tier1 22 0 0.00 5 0 0.00 22 0 0.00 5 0 0.00 MFHAS1 0 genome.wustl.edu 37 8 8748843 8748843 + Missense_Mutation SNP C C T TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 8 8748843 8748843 C T SNP MFHAS1 ENST00000276282 human ensembl 74_37 -1 known missense c.1726 p.V576M 1.000 superfamily_P-loop_NTPase pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_typical-subtyp - no_errors MFHAS1 HGNC ENSG00000147324 tier1 - - 43 0 0.00 35 4 10.26 22 0 0.00 6 0 0.00 MT-CO2 0 genome.wustl.edu 37 MT 8264 8264 + Silent SNP C C T TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 MT 8264 8264 C T SNP MT-CO2 ENST00000361739 human ensembl 74_37 +1 known silent c.679 p.L227 NULL NULL 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 - - 89 0 0.00 14 2 12.50 6 0 0.00 0 0 0.00 PIDD 0 genome.wustl.edu 37 11 803545 803545 + Missense_Mutation SNP G G T TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 11 803545 803545 G T SNP PIDD ENST00000347755 human ensembl 74_37 -1 known missense c.338 p.A113D 0.888 NULL pfam_Peptidase_S68_pidd,pfam_Death_domain,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5 - no_errors PIDD HGNC ENSG00000177595 tier1 - - 35 0 0.00 19 4 17.39 30 0 0.00 2 1 33.33 ENSG00000221280 0 genome.wustl.edu 37 12 118604652 118604653 + R INS - - ACACAC TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 12 118604652 118604653 - ACACAC INS ENSG00000221280 ENST00000408353 human ensembl 74_37 +1 novel rna NULL NULL 0.002:0.000 - - - no_errors AC026366.1 Clone_based_ensembl_gene ENSG00000221280 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 LCE2B 0 genome.wustl.edu 37 1 152659563 152659563 + Missense_Mutation SNP C C A TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 1 152659563 152659563 C A SNP LCE2B ENST00000368780 human ensembl 74_37 +1 known missense c.244 p.H82N 0.004 NULL NULL - no_errors LCE2B HGNC ENSG00000159455 tier1 - - 67 0 0.00 160 18 10.11 1 0 0.00 2 1 33.33 LCE2B 0 genome.wustl.edu 37 1 152659592 152659592 + Silent SNP C C T TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 1 152659592 152659592 C T SNP LCE2B ENST00000368780 human ensembl 74_37 +1 known silent c.273 p.C91 0.532 NULL NULL - no_errors LCE2B HGNC ENSG00000159455 tier1 - - 87 0 0.00 187 27 12.62 1 0 0.00 3 1 25.00 ZXDA 0 genome.wustl.edu 37 X 57936796 57936798 + In_Frame_Del DEL CCG CCG - TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 CCG CCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 X 57936796 57936798 CCG - DEL ZXDA ENST00000358697 human ensembl 74_37 -1 known in_frame_del c.59_57 p.G20in_frame_del 0.010:0.009:0.008 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDA HGNC ENSG00000198205 tier1 16 0 0.00 10 2 16.67 1 0 0.00 3 0 0.00 DSE 0 genome.wustl.edu 37 6 116757666 116757666 + Missense_Mutation SNP G G A TCGA-SG-A6Z7-01A-12D-A32I-09 TCGA-SG-A6Z7-11A-21D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7 150e85f0-08f1-445f-86af-41a5bb0f3590 6 116757666 116757666 G A SNP DSE ENST00000537543 human ensembl 74_37 +1 known missense c.2092 p.D698N 0.998 NULL superfamily_Chondroitin_lyas - no_errors DSE HGNC ENSG00000111817 tier1 - - 33 0 0.00 73 7 8.75 19 0 0.00 21 2 8.70