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 LRRK1 0 genome.wustl.edu 37 15 101554526 101554526 + Silent SNP C C T TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 15 101554526 101554526 C T SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known silent c.1425 p.L475 0.999 smart_Leu-rich_rpt_typical-subtyp pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors LRRK1 HGNC ENSG00000154237 tier1 - - 34 0 0.00 27 7 20.59 73 0 0.00 58 13 18.31 GRAMD4 0 genome.wustl.edu 37 22 47059047 47059047 + Missense_Mutation SNP G G A TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 22 47059047 47059047 G A SNP GRAMD4 ENST00000361034 human ensembl 74_37 +1 known missense c.577 p.E193K 0.999 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD4 HGNC ENSG00000075240 tier1 - - 86 0 0.00 64 13 16.88 105 0 0.00 44 19 30.16 CENPC 0 genome.wustl.edu 37 4 68357896 68357896 + Splice_Site SNP A A C TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 4 68357896 68357896 A C SNP CENPC ENST00000273853 human ensembl 74_37 -1 known splice_site c.2515+2 e16+2 1.000 - - - no_errors CENPC HGNC ENSG00000145241 tier1 - - 78 0 0.00 57 32 35.96 39 0 0.00 34 16 32.00 SETX 0 genome.wustl.edu 37 9 135137998 135137998 + R SNP C C T TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 9 135137998 135137998 C T SNP SETX ENST00000477049 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SETX HGNC ENSG00000107290 tier1 - - 37 0 0.00 24 7 22.58 80 0 0.00 27 20 42.55 CR2 0 genome.wustl.edu 37 1 207649750 207649750 + Missense_Mutation SNP C C G TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 1 207649750 207649750 C G SNP CR2 ENST00000367057 human ensembl 74_37 +1 known missense c.2888 p.A963G 0.106 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 tier1 - - 77 0 0.00 33 14 29.79 82 0 0.00 60 32 34.78 HAUS7 0 genome.wustl.edu 37 X 152721042 152721042 + Missense_Mutation SNP G G A TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 X 152721042 152721042 G A SNP HAUS7 ENST00000421080 human ensembl 74_37 -1 known missense c.383 p.P128L 0.936 NULL NULL - no_errors HAUS7 HGNC ENSG00000213397 tier1 - - 118 0 0.00 67 31 31.31 51 0 0.00 27 17 38.64 LRRC42 0 genome.wustl.edu 37 1 54427720 54427720 + Silent SNP C C T TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 1 54427720 54427720 C T SNP LRRC42 ENST00000319223 human ensembl 74_37 +1 known silent c.738 p.I246 1.000 NULL NULL - no_errors LRRC42 HGNC ENSG00000116212 tier1 - - 90 0 0.00 108 40 27.03 130 0 0.00 90 40 30.77 LRRC42 0 genome.wustl.edu 37 1 54427946 54427946 + R SNP C C G TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 1 54427946 54427946 C G SNP LRRC42 ENST00000477905 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors LRRC42 HGNC ENSG00000116212 tier1 - - 78 0 0.00 102 35 25.55 124 0 0.00 95 52 35.14 DMBT1 0 genome.wustl.edu 37 10 124336090 124336090 + Silent SNP A A G TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 10 124336090 124336090 A G SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known silent c.459 p.G153 0.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 tier1 - - 219 1 0.45 27 55 67.07 31 0 0.00 10 13 56.52 TEX13B 0 genome.wustl.edu 37 X 107224536 107224536 + Missense_Mutation SNP G G T TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 X 107224536 107224536 G T SNP TEX13B ENST00000302917 human ensembl 74_37 -1 known missense c.713 p.A238E 0.090 NULL NULL - no_errors TEX13B HGNC ENSG00000170925 tier1 - - 52 0 0.00 24 14 35.90 83 0 0.00 41 22 34.92 PRRX1 0 genome.wustl.edu 37 1 170705412 170705412 + R SNP G G T TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 1 170705412 170705412 G T SNP PRRX1 ENST00000476867 human ensembl 74_37 +1 known rna NULL NULL 0.550 - - - no_errors PRRX1 HGNC ENSG00000116132 tier1 - - 56 0 0.00 55 32 36.78 65 0 0.00 34 30 46.88 CDH6 0 genome.wustl.edu 37 5 31323298 31323298 + Silent SNP G G A TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 5 31323298 31323298 G A SNP CDH6 ENST00000265071 human ensembl 74_37 +1 known silent c.2256 p.S752 0.985 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH6 HGNC ENSG00000113361 tier1 - - 56 0 0.00 32 35 52.24 59 0 0.00 33 34 50.75 CHL1 0 genome.wustl.edu 37 3 369953 369953 + Missense_Mutation SNP T T A TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 3 369953 369953 T A SNP CHL1 ENST00000256509 human ensembl 74_37 +1 known missense c.301 p.S101T 0.037 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CHL1 HGNC ENSG00000134121 tier1 - - 78 0 0.00 42 24 36.36 137 0 0.00 95 52 34.90 SP110 0 genome.wustl.edu 37 2 231036818 231036818 + Missense_Mutation SNP C C G TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 2 231036818 231036818 C G SNP SP110 ENST00000258381 human ensembl 74_37 -1 known missense c.1779 p.K593N 0.004 superfamily_Bromodomain pfam_Sp100,pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP110 HGNC ENSG00000135899 tier1 - - 45 0 0.00 30 11 26.83 81 0 0.00 49 36 42.35 OR51E1 0 genome.wustl.edu 37 11 4673791 4673791 + Missense_Mutation SNP C C A TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 11 4673791 4673791 C A SNP OR51E1 ENST00000396952 human ensembl 74_37 +1 known missense c.35 p.A12D 0.749 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51E1 HGNC ENSG00000180785 tier1 - - 67 0 0.00 39 21 35.00 137 0 0.00 69 32 31.37 SERPINF2 0 genome.wustl.edu 37 17 1657573 1657573 + Silent SNP C C T TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 17 1657573 1657573 C T SNP SERPINF2 ENST00000324015 human ensembl 74_37 +1 known silent c.1221 p.S407 0.066 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINF2 HGNC ENSG00000167711 tier1 - - 63 0 0.00 8 25 75.76 65 0 0.00 11 23 67.65 TMCO4 0 genome.wustl.edu 37 1 20027301 20027301 + Missense_Mutation SNP G G A TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 1 20027301 20027301 G A SNP TMCO4 ENST00000294543 human ensembl 74_37 -1 known missense c.1342 p.R448W 1.000 pfam_DUF726,pfam_DUF900_hydrolase pfam_DUF726,pfam_DUF900_hydrolase - no_errors TMCO4 HGNC ENSG00000162542 tier1 rs144254063 - 65 0 0.00 44 15 25.42 85 0 0.00 88 26 22.81 SPTBN4 0 genome.wustl.edu 37 19 40978532 40978532 + Missense_Mutation SNP G G A TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 19 40978532 40978532 G A SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.4 p.A2T 1.000 pirsf_Spectrin_bsu 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 ENSG00000160460 tier1 - - 93 0 0.00 13 16 55.17 145 0 0.00 19 49 72.06 TEC 0 genome.wustl.edu 37 4 48165756 48165756 + Missense_Mutation SNP C C T TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 4 48165756 48165756 C T SNP TEC ENST00000381501 human ensembl 74_37 -1 known missense c.700 p.V234I 1.000 pfam_SH3_2,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif - no_errors TEC HGNC ENSG00000135605 tier1 - - 93 0 0.00 64 31 32.63 99 0 0.00 50 27 35.06 MLF1IP 0 genome.wustl.edu 37 4 185637744 185637744 + Missense_Mutation SNP A A G TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 4 185637744 185637744 A G SNP MLF1IP ENST00000281453 human ensembl 74_37 -1 known missense c.425 p.I142T 0.000 NULL NULL - no_errors MLF1IP HGNC ENSG00000151725 tier1 - - 81 0 0.00 49 22 30.99 95 0 0.00 59 20 25.32 IL17A 0 genome.wustl.edu 37 6 52053855 52053855 + Missense_Mutation SNP G G A TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 6 52053855 52053855 G A SNP IL17A ENST00000340057 human ensembl 74_37 +1 known missense c.233 p.R78H 0.024 pfam_IL-17_fam,prints_IL-17_chr pfam_IL-17_fam,prints_IL-17_chr - no_errors IL17A HGNC ENSG00000112115 tier1 - - 50 0 0.00 18 14 43.75 86 0 0.00 56 36 39.13 BNC1 0 genome.wustl.edu 37 15 83935620 83935620 + Missense_Mutation SNP G G T TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 15 83935620 83935620 G T SNP BNC1 ENST00000345382 human ensembl 74_37 -1 known missense c.403 p.L135I 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 tier1 - - 76 0 0.00 61 26 29.89 91 0 0.00 92 18 16.36 OGDH 0 genome.wustl.edu 37 7 44695959 44695959 + Missense_Mutation SNP G G C TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 7 44695959 44695959 G C SNP OGDH ENST00000543843 human ensembl 74_37 +1 known missense c.368 p.G123A 1.000 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDH HGNC ENSG00000105953 tier1 - - 106 0 0.00 34 26 43.33 88 0 0.00 52 23 30.67 HS3ST1 0 genome.wustl.edu 37 4 11401038 11401038 + Missense_Mutation SNP C C T TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 4 11401038 11401038 C T SNP HS3ST1 ENST00000002596 human ensembl 74_37 -1 known missense c.592 p.V198M 0.949 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST1 HGNC ENSG00000002587 tier1 rs202015819 GMAF=0 14 0 0.00 7 7 50.00 63 0 0.00 28 28 50.00 STARD4 0 genome.wustl.edu 37 5 110837715 110837715 + Missense_Mutation SNP C C T TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 5 110837715 110837715 C T SNP STARD4 ENST00000296632 human ensembl 74_37 -1 known missense c.227 p.R76H 1.000 pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors STARD4 HGNC ENSG00000164211 tier1 rs143239767 GMAF=0.0005 72 0 0.00 60 70 53.85 118 0 0.00 43 75 63.56 ANGPT4 0 genome.wustl.edu 37 20 896733 896733 + Missense_Mutation SNP T T G TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 20 896733 896733 T G SNP ANGPT4 ENST00000381922 human ensembl 74_37 -1 known missense c.125 p.H42P 1.000 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT4 HGNC ENSG00000101280 tier1 - - 36 0 0.00 10 7 41.18 56 0 0.00 36 12 24.49 CLN6 0 genome.wustl.edu 37 15 68504112 68504112 + Silent SNP C C T TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 15 68504112 68504112 C T SNP CLN6 ENST00000249806 human ensembl 74_37 -1 known silent c.387 p.V129 1.000 NULL NULL - no_errors CLN6 HGNC ENSG00000128973 tier1 - - 40 0 0.00 30 5 14.29 56 0 0.00 36 10 21.74 PPRC1 0 genome.wustl.edu 37 10 103898382 103898382 + Missense_Mutation SNP T T A TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 10 103898382 103898382 T A SNP PPRC1 ENST00000278070 human ensembl 74_37 +1 known missense c.349 p.L117I 0.354 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC ENSG00000148840 tier1 - - 51 0 0.00 12 14 53.85 109 0 0.00 27 26 49.06 DH7 0 genome.wustl.edu 37 2 196849355 196849355 + Splice_Site SNP C C A TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 2 196849355 196849355 C A SNP DH7 ENST00000312428 human ensembl 74_37 -1 known splice_site c.1833+1 e15+1 1.000 - - - no_errors DH7 HGNC ENSG00000118997 tier1 - - 57 0 0.00 39 29 42.65 117 0 0.00 39 19 32.76 PPP1R26 0 genome.wustl.edu 37 9 138377398 138377398 + Missense_Mutation SNP A A G TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 9 138377398 138377398 A G SNP PPP1R26 ENST00000356818 human ensembl 74_37 +1 known missense c.1042 p.K348E 0.000 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 tier1 - - 58 0 0.00 34 16 32.00 39 0 0.00 27 14 34.15 FREM2 0 genome.wustl.edu 37 13 39454452 39454452 + Missense_Mutation SNP C C T TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 13 39454452 39454452 C T SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.9038 p.T3013M 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 tier1 rs114400765 GMAF=0 63 0 0.00 8 24 75.00 70 0 0.00 12 23 65.71 LARP1 0 genome.wustl.edu 37 5 154181828 154181828 + Missense_Mutation SNP G G T TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 5 154181828 154181828 G T SNP LARP1 ENST00000336314 human ensembl 74_37 +1 known missense c.1747 p.D583Y 1.000 NULL pfam_Lupus_La_R-bd,smart_Lupus_La_R-bd,smart_DM15,pfscan_Lupus_La_R-bd - no_errors LARP1 HGNC ENSG00000155506 tier1 - - 46 0 0.00 15 15 48.39 50 0 0.00 21 27 56.25 FRK 0 genome.wustl.edu 37 6 116289823 116289823 + Silent SNP G G T TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 6 116289823 116289823 G T SNP FRK ENST00000606080 human ensembl 74_37 -1 known silent c.546 p.I182 0.017 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FRK HGNC ENSG00000111816 tier1 - - 138 0 0.00 77 36 31.86 119 0 0.00 80 33 28.70 PWWP2B 0 genome.wustl.edu 37 10 134219604 134219604 + Missense_Mutation SNP C C T TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 10 134219604 134219604 C T SNP PWWP2B ENST00000305233 human ensembl 74_37 +1 known missense c.1600 p.P534S 1.000 pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors PWWP2B HGNC ENSG00000171813 tier1 - - 96 0 0.00 17 21 55.26 123 0 0.00 21 45 68.18 EPHA5 0 genome.wustl.edu 37 4 66230840 66230840 + Missense_Mutation SNP C C A TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 4 66230840 66230840 C A SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known missense c.2131 p.V711L 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 tier1 - - 112 0 0.00 29 24 45.28 86 0 0.00 75 40 34.78 KYNU 0 genome.wustl.edu 37 2 143743591 143743591 + Splice_Site SNP G G C TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 2 143743591 143743591 G C SNP KYNU ENST00000264170 human ensembl 74_37 +1 known splice_site c.902+1 e9+1 1.000 - - - no_errors KYNU HGNC ENSG00000115919 tier1 - - 63 0 0.00 42 24 36.36 103 0 0.00 82 44 34.92 MYBPH 0 genome.wustl.edu 37 1 203144809 203144809 + Silent SNP G G A TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 1 203144809 203144809 G A SNP MYBPH ENST00000255416 human ensembl 74_37 -1 known silent c.75 p.P25 0.670 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPH HGNC ENSG00000133055 tier1 - - 157 0 0.00 60 31 34.07 45 0 0.00 27 11 28.95 CELSR1 0 genome.wustl.edu 37 22 46776812 46776812 + Missense_Mutation SNP T T C TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 22 46776812 46776812 T C SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.7129 p.T2377A 0.003 pfam_DUF3497 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 32 15 31.91 22 0 0.00 13 3 18.75 ZFPM2 0 genome.wustl.edu 37 8 106815148 106815148 + Missense_Mutation SNP T T G TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 8 106815148 106815148 T G SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known missense c.2838 p.S946R 0.499 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 tier1 - - 40 0 0.00 22 13 37.14 86 0 0.00 61 42 40.38 ENSG00000185710 0 genome.wustl.edu 37 16 21896551 21896551 + R SNP A A T TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 16 21896551 21896551 A T SNP ENSG00000185710 ENST00000380598 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-645C24.2 Clone_based_vega_gene ENSG00000185710 tier1 - - 172 0 0.00 65 44 40.37 7 0 0.00 10 2 16.67 ZAP70 0 genome.wustl.edu 37 2 98351033 98351033 + Missense_Mutation SNP G G A TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 2 98351033 98351033 G A SNP ZAP70 ENST00000264972 human ensembl 74_37 +1 known missense c.940 p.V314M 0.786 superfamily_Kinase-like_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ZAP70 HGNC ENSG00000115085 tier1 rs200679935 - 45 0 0.00 41 11 20.75 33 0 0.00 21 11 34.38 SLC7A14 0 genome.wustl.edu 37 3 170198390 170198390 + Missense_Mutation SNP T T C TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 3 170198390 170198390 T C SNP SLC7A14 ENST00000231706 human ensembl 74_37 -1 known missense c.1681 p.T561A 0.994 NULL pfam_AA-permease/SLC12A_dom - no_errors SLC7A14 HGNC ENSG00000013293 tier1 - - 41 0 0.00 13 19 59.38 44 0 0.00 21 20 48.78 ANGPT4 0 genome.wustl.edu 37 20 896734 896734 + Missense_Mutation SNP G G T TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 20 896734 896734 G T SNP ANGPT4 ENST00000381922 human ensembl 74_37 -1 known missense c.124 p.H42N 1.000 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT4 HGNC ENSG00000101280 tier1 - - 36 0 0.00 10 7 41.18 56 0 0.00 37 12 24.49 OR5M10 0 genome.wustl.edu 37 11 56344488 56344488 + Missense_Mutation SNP G G A TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 11 56344488 56344488 G A SNP OR5M10 ENST00000526812 human ensembl 74_37 -1 known missense c.710 p.A237V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M10 HGNC ENSG00000254834 tier1 - - 53 0 0.00 31 24 42.86 49 0 0.00 24 11 31.43 SLC5A1 0 genome.wustl.edu 37 22 32480510 32480510 + Missense_Mutation SNP C C T TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 22 32480510 32480510 C T SNP SLC5A1 ENST00000266088 human ensembl 74_37 +1 known missense c.749 p.T250I 0.027 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A1 HGNC ENSG00000100170 tier1 - - 49 0 0.00 16 14 46.67 136 0 0.00 80 22 21.57 SCUBE1 0 genome.wustl.edu 37 22 43614417 43614417 + Missense_Mutation SNP G G T TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 22 43614417 43614417 G T SNP SCUBE1 ENST00000360835 human ensembl 74_37 -1 known missense c.1735 p.Q579K 1.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE1 HGNC ENSG00000159307 tier1 - - 59 0 0.00 26 18 40.91 49 0 0.00 13 12 48.00 CD300LB 0 genome.wustl.edu 37 17 72527588 72527588 + Missense_Mutation SNP A A C TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 17 72527588 72527588 A C SNP CD300LB ENST00000392621 human ensembl 74_37 -1 known missense c.13 p.C5G 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300LB HGNC ENSG00000178789 tier1 - - 91 0 0.00 34 6 15.00 79 0 0.00 76 17 18.09 C9orf3 0 genome.wustl.edu 37 9 97522615 97522615 + Missense_Mutation SNP A A G TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 9 97522615 97522615 A G SNP C9orf3 ENST00000375315 human ensembl 74_37 +1 known missense c.550 p.R184G 0.998 NULL pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold - no_errors C9orf3 HGNC ENSG00000148120 tier1 - - 49 0 0.00 28 18 39.13 117 0 0.00 60 49 44.95 SLC27A6 0 genome.wustl.edu 37 5 128368839 128368839 + Missense_Mutation SNP A A G TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 5 128368839 128368839 A G SNP SLC27A6 ENST00000262462 human ensembl 74_37 +1 known missense c.1724 p.H575R 0.615 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A6 HGNC ENSG00000113396 tier1 - - 69 0 0.00 113 29 20.42 94 0 0.00 98 37 27.21 SACS 0 genome.wustl.edu 37 13 23910319 23910319 + Missense_Mutation SNP C C T TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 13 23910319 23910319 C T SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.7696 p.D2566N 1.000 superfamily_HATPase_ATP-bd pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 tier1 - - 75 0 0.00 11 18 62.07 70 0 0.00 27 38 58.46 HP 0 genome.wustl.edu 37 16 72093029 72093029 + Missense_Mutation SNP C C A TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 16 72093029 72093029 C A SNP HP ENST00000355906 human ensembl 74_37 +1 known missense c.384 p.N128K 0.879 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HP HGNC ENSG00000257017 tier1 - - 107 0 0.00 58 22 27.50 101 0 0.00 68 23 25.27 ZHX2 0 genome.wustl.edu 37 8 123965961 123965961 + Silent SNP C C T TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 8 123965961 123965961 C T SNP ZHX2 ENST00000314393 human ensembl 74_37 +1 known silent c.2211 p.L737 0.990 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZHX2 HGNC ENSG00000178764 tier1 - - 44 0 0.00 25 9 26.47 119 0 0.00 72 47 39.50 MKNK1 0 genome.wustl.edu 37 1 47051606 47051606 + Silent SNP G G A TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 1 47051606 47051606 G A SNP MKNK1 ENST00000474868 human ensembl 74_37 -1 known silent c.75 p.V25 0.611 NULL NULL - no_errors MKNK1 HGNC ENSG00000079277 tier1 - - 70 0 0.00 56 26 31.71 146 0 0.00 89 27 23.28 ANKRD24 0 genome.wustl.edu 37 19 4216723 4216723 + Silent SNP G G A TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 19 4216723 4216723 G A SNP ANKRD24 ENST00000318934 human ensembl 74_37 +1 known silent c.1566 p.E522 0.015 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD24 HGNC ENSG00000089847 tier1 - - 27 0 0.00 14 9 39.13 33 0 0.00 14 9 39.13 KCNB2 0 genome.wustl.edu 37 8 73480416 73480416 + Missense_Mutation SNP C C A TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 8 73480416 73480416 C A SNP KCNB2 ENST00000523207 human ensembl 74_37 +1 known missense c.447 p.N149K 0.175 NULL pfam_K_chnl_volt-dep_Kv2,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_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 tier1 - - 46 0 0.00 39 33 45.83 90 0 0.00 38 26 40.62 LRRK1 0 genome.wustl.edu 37 15 101554525 101554525 + Missense_Mutation SNP T T A TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 15 101554525 101554525 T A SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known missense c.1424 p.L475H 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors LRRK1 HGNC ENSG00000154237 tier1 - - 35 0 0.00 27 7 20.59 72 0 0.00 58 12 17.14 ZCCHC6 0 genome.wustl.edu 37 9 88937339 88937339 + Frame_Shift_Del DEL C C - TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 9 88937339 88937339 C - DEL ZCCHC6 ENST00000375963 human ensembl 74_37 -1 known frame_shift_del c.2929 p.D977fs 1.000 pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ENSG00000083223 tier1 96 0 0.00 44 30 40.54 118 0 0.00 72 29 28.71 TP53 0 genome.wustl.edu 37 17 7578369 7578369 + Splice_Site DEL A A - TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 17 7578369 7578369 A - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known splice_site_del c.559+2 e4+2 1.000 - - - no_errors TP53 HGNC ENSG00000141510 tier1 37 0 0.00 13 13 50.00 61 0 0.00 12 26 68.42 CNTP5 0 genome.wustl.edu 37 2 125504848 125504848 + Frame_Shift_Del DEL G G - TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 2 125504848 125504848 G - DEL CNTP5 ENST00000431078 human ensembl 74_37 +1 known frame_shift_del c.2117 p.R706fs 0.007 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTP5 HGNC ENSG00000155052 tier1 62 0 0.00 30 22 42.31 127 0 0.00 66 38 36.54 PHKB 0 genome.wustl.edu 37 16 47545604 47545606 + In_Frame_Del DEL CAA CAA - TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 CAA CAA CAA - CAA CAA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 16 47545604 47545606 CAA - DEL PHKB ENST00000299167 human ensembl 74_37 +1 known in_frame_del c.434_436 p.T147in_frame_del 1.000:0.977:0.982 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKB HGNC ENSG00000102893 tier1 66 0 0.00 27 13 32.50 101 0 0.00 56 47 45.63 FRK 0 genome.wustl.edu 37 6 116289819 116289819 + Frame_Shift_Del DEL A A - TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 6 116289819 116289819 A - DEL FRK ENST00000606080 human ensembl 74_37 -1 known frame_shift_del c.550 p.S184fs 0.020 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FRK HGNC ENSG00000111816 tier1 143 0 0.00 77 34 30.63 121 1 0.82 84 31 26.96 COL22A1 0 genome.wustl.edu 37 8 139707070 139707070 + Frame_Shift_Del DEL G G - TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 8 139707070 139707070 G - DEL COL22A1 ENST00000303045 human ensembl 74_37 -1 known frame_shift_del c.2645 p.P882fs 0.770 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 tier1 56 0 0.00 22 5 18.52 66 0 0.00 38 14 26.92 ABCD1 0 genome.wustl.edu 37 X 153008509 153008509 + Missense_Mutation SNP C C G TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 X 153008509 153008509 C G SNP ABCD1 ENST00000218104 human ensembl 74_37 +1 known missense c.1849 p.R617G 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_FA_transporter pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_FA_transporter - no_errors ABCD1 HGNC ENSG00000101986 tier1 - - 168 0 0.00 80 48 37.21 18 0 0.00 7 3 30.00 HECTD2 0 genome.wustl.edu 37 10 93245134 93245134 + R SNP A A T TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 10 93245134 93245134 A T SNP HECTD2 ENST00000498446 human ensembl 74_37 +1 known rna NULL NULL 0.013 - - - no_errors HECTD2 HGNC ENSG00000165338 tier1 - - 47 0 0.00 11 19 63.33 62 0 0.00 1 33 97.06 URB2 0 genome.wustl.edu 37 1 229787011 229787011 + Missense_Mutation SNP G G T TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 1 229787011 229787011 G T SNP URB2 ENST00000258243 human ensembl 74_37 +1 known missense c.4179 p.L1393F 0.998 pfam_Urb2/Npa2_C pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 tier1 - - 100 0 0.00 76 7 8.43 108 0 0.00 116 4 3.33 OTOP3 0 genome.wustl.edu 37 17 72943417 72943417 + Missense_Mutation SNP G G T TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 17 72943417 72943417 G T SNP OTOP3 ENST00000328801 human ensembl 74_37 +1 known missense c.1467 p.Q489H 0.000 NULL pfam_Otopetrin - no_errors OTOP3 HGNC ENSG00000182938 tier1 - - 62 0 0.00 29 4 12.12 11 0 0.00 9 0 0.00 RGPD2 0 genome.wustl.edu 37 2 88071786 88071786 + Frame_Shift_Del DEL A A - TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 2 88071786 88071786 A - DEL RGPD2 ENST00000398146 human ensembl 74_37 -1 known frame_shift_del c.5138 p.L1713fs 1.000 pfam_GRIP,superfamily_GRIP,smart_GRIP,pfscan_GRIP pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_2,pfam_TPR_1,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD2 HGNC ENSG00000185304 tier1 20 0 0.00 10 17 62.96 0 0 0.00 0 0 0.00 TRIOBP 0 genome.wustl.edu 37 22 38122497 38122497 + Missense_Mutation SNP G G A TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 22 38122497 38122497 G A SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known missense c.3934 p.G1312R 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 tier1 - - 11 0 0.00 6 7 53.85 2 0 0.00 0 0 0.00 ZNF733P 0 genome.wustl.edu 37 7 62752019 62752019 + R SNP G G A TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 7 62752019 62752019 G A SNP ZNF733P ENST00000331425 human ensembl 74_37 -1 known rna NULL NULL 0.954 - - - no_errors ZNF733P HGNC ENSG00000185037 tier1 - - 54 0 0.00 52 19 26.76 0 0 0.00 0 0 0.00 ESPL1 0 genome.wustl.edu 37 12 53683327 53683327 + Missense_Mutation SNP C C T TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 12 53683327 53683327 C T SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known missense c.5062 p.P1688S 1.000 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 tier1 - - 68 0 0.00 23 7 23.33 101 0 0.00 45 3 6.25 DCAF7 0 genome.wustl.edu 37 17 61667286 61667286 + R SNP G G T TCGA-3B-A9HQ-01A-11D-A387-09 TCGA-3B-A9HQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a338e82-a3d9-4fde-a778-541bd843cd68 ec67e62a-ddd3-4fce-babd-48da624ff7d0 17 61667286 61667286 G T SNP DCAF7 ENST00000577702 human ensembl 74_37 +1 known rna NULL NULL 0.543 - - - no_errors DCAF7 HGNC ENSG00000136485 tier1 - - 27 0 0.00 36 4 10.00 107 0 0.00 117 2 1.68