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 PCDH15 0 genome.wustl.edu 37 10 55581545 55581545 + R SNP G G A TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 10 55581545 55581545 G A SNP PCDH15 ENST00000463095 human ensembl 74_37 -1 known rna NULL NULL 0.158 - - - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 48 0 0.00 18 7 28.00 91 0 0.00 25 27 51.92 LPL 0 genome.wustl.edu 37 8 19811678 19811678 + Missense_Mutation SNP C C T TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 8 19811678 19811678 C T SNP LPL ENST00000311322 human ensembl 74_37 +1 known missense c.589 p.R197C 0.989 pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,tigrfam_Lipo_Lipase pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_Lipo_Lipase,prints_Lipase,pfscan_PLAT/LH2_dom,tigrfam_Lipo_Lipase - no_errors LPL HGNC ENSG00000175445 tier1 - - 87 0 0.00 43 22 33.85 78 0 0.00 66 35 34.65 FLJ41200 0 genome.wustl.edu 37 9 13408345 13408345 + R SNP C C T TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 9 13408345 13408345 C T SNP FLJ41200 ENST00000604724 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-536O18.2 Clone_based_vega_gene ENSG00000270547 tier1 - - 64 0 0.00 32 8 20.00 95 0 0.00 92 14 13.08 MS4A14 0 genome.wustl.edu 37 11 60172032 60172032 + Missense_Mutation SNP T T G TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 11 60172032 60172032 T G SNP MS4A14 ENST00000525397 human ensembl 74_37 +1 known missense c.482 p.L161R 0.003 NULL pfam_CD20-like - no_errors MS4A14 HGNC ENSG00000166928 tier1 - - 105 0 0.00 45 8 15.09 105 0 0.00 95 21 18.10 ACTL7B 0 genome.wustl.edu 37 9 111617550 111617550 + Missense_Mutation SNP G G A TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 9 111617550 111617550 G A SNP ACTL7B ENST00000374667 human ensembl 74_37 -1 known missense c.661 p.R221C 0.808 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL7B HGNC ENSG00000148156 tier1 - - 25 0 0.00 7 8 53.33 19 0 0.00 19 7 26.92 PRTG 0 genome.wustl.edu 37 15 55965592 55965592 + Missense_Mutation SNP G G A TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 15 55965592 55965592 G A SNP PRTG ENST00000389286 human ensembl 74_37 -1 known missense c.1829 p.T610M 1.000 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors PRTG HGNC ENSG00000166450 tier1 - - 42 0 0.00 21 7 25.00 78 0 0.00 80 26 24.53 SEC16A 0 genome.wustl.edu 37 9 139336249 139336249 + Missense_Mutation SNP C C G TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 9 139336249 139336249 C G SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known missense c.7032 p.R2344S 0.046 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 tier1 - - 32 0 0.00 11 12 52.17 44 0 0.00 17 25 59.52 MARCH7 0 genome.wustl.edu 37 2 160604560 160604560 + Missense_Mutation SNP C C G TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 2 160604560 160604560 C G SNP MARCH7 ENST00000259050 human ensembl 74_37 +1 known missense c.759 p.I253M 0.655 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH7 HGNC ENSG00000136536 tier1 - - 74 0 0.00 22 8 26.67 69 0 0.00 38 28 42.42 CUBN 0 genome.wustl.edu 37 10 16942707 16942707 + Missense_Mutation SNP G G T TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 10 16942707 16942707 G T SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.8327 p.S2776Y 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_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 CUBN HGNC ENSG00000107611 tier1 - - 78 0 0.00 19 15 44.12 84 0 0.00 43 37 46.25 BRF1 0 genome.wustl.edu 37 14 105678473 105678473 + Missense_Mutation SNP C C T TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 14 105678473 105678473 C T SNP BRF1 ENST00000546474 human ensembl 74_37 -1 known missense c.1801 p.A601T 0.033 NULL pfam_TFIIB_cyclin,pfam_BRF1_TBP-bd,pfam_Znf_TFIIB,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB - no_errors BRF1 HGNC ENSG00000185024 tier1 - - 80 0 0.00 51 21 28.77 68 0 0.00 38 8 17.39 PRIM2 0 genome.wustl.edu 37 6 57498984 57498984 + R SNP G G T TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 6 57498984 57498984 G T SNP PRIM2 ENST00000389488 human ensembl 74_37 +1 known rna NULL NULL 0.983 - - - no_errors PRIM2 HGNC ENSG00000146143 tier1 - - 165 0 0.00 106 18 14.52 211 1 0.47 141 21 12.96 MAPKAP1 0 genome.wustl.edu 37 9 128434681 128434681 + Missense_Mutation SNP T T G TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 9 128434681 128434681 T G SNP MAPKAP1 ENST00000265960 human ensembl 74_37 -1 known missense c.173 p.N58T 0.988 pfam_SIN1 pfam_SIN1 - no_errors MAPKAP1 HGNC ENSG00000119487 tier1 - - 50 0 0.00 35 17 32.69 71 0 0.00 76 16 17.39 B3GNTL1 0 genome.wustl.edu 37 17 80919003 80919003 + Missense_Mutation SNP C C T TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 17 80919003 80919003 C T SNP B3GNTL1 ENST00000320865 human ensembl 74_37 -1 known missense c.655 p.V219I 0.056 NULL pfam_Glyco_trans_2 - no_errors B3GNTL1 HGNC ENSG00000175711 tier1 - - 30 0 0.00 20 7 25.93 26 0 0.00 21 5 19.23 MUC16 0 genome.wustl.edu 37 19 9087836 9087836 + Missense_Mutation SNP T T C TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 19 9087836 9087836 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.3979 p.T1327A 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 62 0 0.00 46 7 13.21 95 0 0.00 119 34 22.22 E2F7 0 genome.wustl.edu 37 12 77440013 77440013 + Missense_Mutation SNP G G A TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 12 77440013 77440013 G A SNP E2F7 ENST00000322886 human ensembl 74_37 -1 known missense c.634 p.R212W 1.000 NULL pfam_E2F_TDP - no_errors E2F7 HGNC ENSG00000165891 tier1 - - 31 0 0.00 14 9 39.13 68 0 0.00 34 25 41.67 OTOA 0 genome.wustl.edu 37 16 21716518 21716518 + Missense_Mutation SNP G G A TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 16 21716518 21716518 G A SNP OTOA ENST00000286149 human ensembl 74_37 +1 known missense c.1051 p.D351N 1.000 NULL NULL - no_errors OTOA HGNC ENSG00000155719 tier1 - - 69 0 0.00 54 5 8.47 73 0 0.00 62 9 12.50 SPP2 0 genome.wustl.edu 37 2 234959657 234959657 + Missense_Mutation SNP C C T TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 2 234959657 234959657 C T SNP SPP2 ENST00000168148 human ensembl 74_37 +1 known missense c.128 p.A43V 0.383 pfam_Prot_inh_cystat pfam_Spp-24,pfam_Prot_inh_cystat - no_errors SPP2 HGNC ENSG00000072080 tier1 - - 39 0 0.00 27 9 25.00 79 0 0.00 51 28 35.44 RAG2 0 genome.wustl.edu 37 11 36615530 36615530 + Silent SNP A A T TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 11 36615530 36615530 A T SNP RAG2 ENST00000311485 human ensembl 74_37 -1 known silent c.189 p.S63 0.411 pfam_RAG2,superfamily_Gal_Oxase/kelch_b-propeller pfam_RAG2,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_Znf_FYVE_PHD - no_errors RAG2 HGNC ENSG00000175097 tier1 - - 96 0 0.00 23 26 53.06 117 0 0.00 55 33 37.08 SYTL3 0 genome.wustl.edu 37 6 159178331 159178331 + Missense_Mutation SNP G G A TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 6 159178331 159178331 G A SNP SYTL3 ENST00000297239 human ensembl 74_37 +1 known missense c.1226 p.G409E 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ - no_errors SYTL3 HGNC ENSG00000164674 tier1 - - 80 0 0.00 35 19 35.19 25 0 0.00 15 9 37.50 LOC100129345 0 genome.wustl.edu 37 14 98099864 98099864 + R SNP A A T TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 14 98099864 98099864 A T SNP LOC100129345 ENST00000355909 human ensembl 74_37 -1 known rna NULL NULL 0.482 - - - no_errors RP11-76E12.1 Clone_based_vega_gene ENSG00000197176 tier1 - - 64 0 0.00 75 16 17.58 89 0 0.00 83 12 12.63 LPCAT2 0 genome.wustl.edu 37 16 55559550 55559550 + Missense_Mutation SNP G G T TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 16 55559550 55559550 G T SNP LPCAT2 ENST00000262134 human ensembl 74_37 +1 known missense c.302 p.G101V 0.986 NULL pfam_EF_hand_dom,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors LPCAT2 HGNC ENSG00000087253 tier1 - - 82 0 0.00 26 21 44.68 99 0 0.00 51 22 30.14 KRT121P 0 genome.wustl.edu 37 12 52648079 52648079 + R SNP C C T TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 12 52648079 52648079 C T SNP KRT121P ENST00000529785 human ensembl 74_37 -1 known rna NULL NULL 0.834 - - - no_errors KRT121P HGNC ENSG00000135477 tier1 - - 105 0 0.00 39 27 40.91 45 0 0.00 32 17 34.69 SCN1A 0 genome.wustl.edu 37 2 166854568 166854568 + Missense_Mutation SNP A A T TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 2 166854568 166854568 A T SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.4456 p.F1486I 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 tier1 - - 142 0 0.00 18 42 70.00 104 0 0.00 22 56 70.89 CBR3 0 genome.wustl.edu 37 21 37518768 37518768 + Silent SNP A A T TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 21 37518768 37518768 A T SNP CBR3 ENST00000290354 human ensembl 74_37 +1 known silent c.792 p.P264 0.996 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors CBR3 HGNC ENSG00000159231 tier1 - - 48 0 0.00 37 7 15.91 80 0 0.00 73 17 18.68 RB1 0 genome.wustl.edu 37 13 49037972 49037972 + Splice_Site SNP G G A TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 13 49037972 49037972 G A SNP RB1 ENST00000267163 human ensembl 74_37 +1 known splice_site c.2211+1 e21+1 1.000 - - - no_errors RB1 HGNC ENSG00000139687 tier1 - - 32 0 0.00 13 16 55.17 85 0 0.00 28 24 46.15 CCDC18 0 genome.wustl.edu 37 1 93730316 93730316 + Missense_Mutation SNP C C T TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 1 93730316 93730316 C T SNP CCDC18 ENST00000557479 human ensembl 74_37 +1 known missense c.4097 p.S1366F 0.998 superfamily_tR-bd_arm superfamily_Prefoldin,superfamily_tR-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 tier1 - - 78 0 0.00 37 10 21.28 87 0 0.00 58 26 30.95 TTC1 0 genome.wustl.edu 37 5 159492027 159492027 + Silent SNP C C G TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 5 159492027 159492027 C G SNP TTC1 ENST00000231238 human ensembl 74_37 +1 known silent c.834 p.G278 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC1 HGNC ENSG00000113312 tier1 - - 51 0 0.00 9 17 65.38 141 0 0.00 59 86 59.31 GPR34 0 genome.wustl.edu 37 X 41555919 41555919 + Nonsense_Mutation SNP C C T TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 X 41555919 41555919 C T SNP GPR34 ENST00000378138 human ensembl 74_37 +1 known nonsense c.1033 p.R345* 0.933 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR34 HGNC ENSG00000171659 tier1 - - 28 0 0.00 3 28 90.32 67 1 1.47 10 95 90.48 SIDT1 0 genome.wustl.edu 37 3 113325932 113325932 + Silent SNP C C T TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 3 113325932 113325932 C T SNP SIDT1 ENST00000393830 human ensembl 74_37 +1 known silent c.1449 p.F483 1.000 NULL NULL - no_errors SIDT1 HGNC ENSG00000072858 tier1 - - 104 0 0.00 44 13 22.81 134 0 0.00 108 40 27.03 CCDC40 0 genome.wustl.edu 37 17 78073483 78073483 + Missense_Mutation SNP G G A TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 17 78073483 78073483 G A SNP CCDC40 ENST00000397545 human ensembl 74_37 +1 known missense c.3338 p.R1113H 0.107 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 tier1 - - 76 0 0.00 37 15 28.85 22 0 0.00 22 6 21.43 CYP4A11 0 genome.wustl.edu 37 1 47400674 47400674 + Missense_Mutation SNP G G C TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 1 47400674 47400674 G C SNP CYP4A11 ENST00000371904 human ensembl 74_37 -1 known missense c.788 p.T263R 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV - no_errors CYP4A11 HGNC ENSG00000187048 tier1 - - 56 0 0.00 38 4 9.52 20 0 0.00 14 3 17.65 ARHGAP31 0 genome.wustl.edu 37 3 119133384 119133384 + Missense_Mutation SNP A A T TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 3 119133384 119133384 A T SNP ARHGAP31 ENST00000264245 human ensembl 74_37 +1 known missense c.2608 p.I870F 0.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 tier1 - - 71 0 0.00 31 25 44.64 99 0 0.00 61 79 55.63 PPP1R13B 0 genome.wustl.edu 37 14 104202499 104202499 + Missense_Mutation SNP C C T TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 14 104202499 104202499 C T SNP PPP1R13B ENST00000423488 human ensembl 74_37 -1 known missense c.1162 p.V388I 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R13B HGNC ENSG00000088808 tier1 - - 80 0 0.00 32 21 39.62 82 1 1.20 39 45 53.57 ITGAV 0 genome.wustl.edu 37 2 187529902 187529902 + Missense_Mutation SNP A A C TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 2 187529902 187529902 A C SNP ITGAV ENST00000261023 human ensembl 74_37 +1 known missense c.2123 p.Q708P 0.990 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ENSG00000138448 tier1 - - 74 0 0.00 35 5 12.50 86 1 1.15 43 29 40.28 ADCYAP1R1 0 genome.wustl.edu 37 7 31124408 31124408 + Silent SNP C C G TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 7 31124408 31124408 C G SNP ADCYAP1R1 ENST00000304166 human ensembl 74_37 +1 known silent c.495 p.L165 0.304 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like - no_errors ADCYAP1R1 HGNC ENSG00000078549 tier1 - - 76 0 0.00 54 13 19.40 92 0 0.00 98 20 16.95 OR5AC2 0 genome.wustl.edu 37 3 97806244 97806244 + Silent SNP A A C TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 3 97806244 97806244 A C SNP OR5AC2 ENST00000358642 human ensembl 74_37 +1 known silent c.228 p.S76 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AC2 HGNC ENSG00000196578 tier1 - - 60 0 0.00 46 8 14.81 110 0 0.00 98 24 19.67 BTG4 0 genome.wustl.edu 37 11 111369380 111369380 + Missense_Mutation SNP G G C TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 11 111369380 111369380 G C SNP BTG4 ENST00000356018 human ensembl 74_37 -1 known missense c.122 p.T41R 0.974 pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn - no_errors BTG4 HGNC ENSG00000137707 tier1 - - 68 0 0.00 38 5 11.63 54 0 0.00 42 11 20.37 KAT7 0 genome.wustl.edu 37 17 47869337 47869337 + Silent SNP A A C TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 17 47869337 47869337 A C SNP KAT7 ENST00000259021 human ensembl 74_37 +1 known silent c.105 p.T35 0.112 NULL pfam_MOZ_SAS,pfam_Znf_C2HC,superfamily_Acyl_CoA_acyltransferase - no_errors KAT7 HGNC ENSG00000136504 tier1 - - 101 0 0.00 50 15 23.08 56 0 0.00 42 21 33.33 HS3ST1 0 genome.wustl.edu 37 4 11401252 11401252 + Silent SNP C C T TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 4 11401252 11401252 C T SNP HS3ST1 ENST00000002596 human ensembl 74_37 -1 known silent c.378 p.S126 0.988 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST1 HGNC ENSG00000002587 tier1 - - 68 0 0.00 26 10 27.78 42 0 0.00 54 19 26.03 ABCA4 0 genome.wustl.edu 37 1 94497568 94497568 + Silent SNP G G A TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 1 94497568 94497568 G A SNP ABCA4 ENST00000370225 human ensembl 74_37 -1 known silent c.3894 p.N1298 0.000 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 tier1 - - 111 0 0.00 30 46 60.53 50 0 0.00 27 35 56.45 CAPN8 0 genome.wustl.edu 37 1 223718162 223718162 + Silent SNP G G A TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 1 223718162 223718162 G A SNP CAPN8 ENST00000366872 human ensembl 74_37 -1 known silent c.1818 p.H606 0.534 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN8 HGNC ENSG00000203697 tier1 - - 89 0 0.00 44 15 25.42 68 0 0.00 43 16 27.12 TKTL1 0 genome.wustl.edu 37 X 153537746 153537746 + Missense_Mutation SNP G G T TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 X 153537746 153537746 G T SNP TKTL1 ENST00000369915 human ensembl 74_37 +1 known missense c.302 p.G101V 0.998 pfam_Transketolase_N,pfam_DH_E1 pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL1 HGNC ENSG00000007350 tier1 - - 47 0 0.00 5 25 83.33 52 0 0.00 12 33 73.33 ZNF688 0 genome.wustl.edu 37 16 30582409 30582409 + Missense_Mutation SNP T T C TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 16 30582409 30582409 T C SNP ZNF688 ENST00000223459 human ensembl 74_37 -1 known missense c.232 p.M78V 1.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF688 HGNC ENSG00000229809 tier1 - - 156 0 0.00 72 25 25.77 54 1 1.82 56 12 17.65 LINC00577 0 genome.wustl.edu 37 6 105388262 105388262 + R SNP G G A TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 6 105388262 105388262 G A SNP LINC00577 ENST00000369123 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors LINC00577 HGNC ENSG00000203809 tier1 - - 60 0 0.00 17 18 51.43 8 0 0.00 11 5 31.25 LPCAT2 0 genome.wustl.edu 37 16 55559549 55559549 + Missense_Mutation SNP G G T TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 16 55559549 55559549 G T SNP LPCAT2 ENST00000262134 human ensembl 74_37 +1 known missense c.301 p.G101C 0.969 NULL pfam_EF_hand_dom,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors LPCAT2 HGNC ENSG00000087253 tier1 - - 82 0 0.00 26 21 44.68 99 0 0.00 50 22 30.56 PPP2R5B 0 genome.wustl.edu 37 11 64695300 64695300 + Silent SNP G G A TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 11 64695300 64695300 G A SNP PPP2R5B ENST00000164133 human ensembl 74_37 +1 known silent c.423 p.L141 0.968 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5B HGNC ENSG00000068971 tier1 - - 75 0 0.00 43 16 27.12 90 0 0.00 68 20 22.47 CATSPER1 0 genome.wustl.edu 37 11 65788571 65788571 + Missense_Mutation SNP A A C TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 11 65788571 65788571 A C SNP CATSPER1 ENST00000312106 human ensembl 74_37 -1 known missense c.1777 p.C593G 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER1 HGNC ENSG00000175294 tier1 - - 244 0 0.00 93 95 50.53 37 0 0.00 15 26 63.41 OR11L1 0 genome.wustl.edu 37 1 248005032 248005032 + Missense_Mutation SNP T T C TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 1 248005032 248005032 T C SNP OR11L1 ENST00000355784 human ensembl 74_37 -1 known missense c.167 p.H56R 0.663 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11L1 HGNC ENSG00000197591 tier1 - - 74 0 0.00 29 12 29.27 72 0 0.00 67 14 17.28 TTC3 0 genome.wustl.edu 37 21 38461127 38461127 + Missense_Mutation SNP A A G TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 21 38461127 38461127 A G SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known missense c.367 p.K123E 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 tier1 - - 84 0 0.00 53 22 29.33 29 0 0.00 20 12 37.50 RB1 0 genome.wustl.edu 37 13 49037932 49037933 + Frame_Shift_Del DEL TG TG - TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 TG TG TG - TG TG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 13 49037932 49037933 TG - DEL RB1 ENST00000267163 human ensembl 74_37 +1 known frame_shift_del c.2172_2173 p.V725fs 0.997:1.000 pfam_RB_B,superfamily_Cyclin-like,smart_Cyclin-like pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 tier1 34 0 0.00 19 7 26.92 93 0 0.00 44 9 16.98 CELSR3 0 genome.wustl.edu 37 3 48700023 48700023 + Silent SNP C C A TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 3 48700023 48700023 C A SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known silent c.45 p.S15 0.009 NULL pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,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 CELSR3 HGNC ENSG00000008300 tier1 - - 22 0 0.00 11 7 38.89 6 0 0.00 5 3 37.50 DH9 0 genome.wustl.edu 37 17 11833231 11833231 + Missense_Mutation SNP G G C TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 17 11833231 11833231 G C SNP DH9 ENST00000262442 human ensembl 74_37 +1 known missense c.11926 p.E3976Q 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH9 HGNC ENSG00000007174 tier1 - - 55 0 0.00 130 15 10.34 77 0 0.00 232 25 9.73 ODF3 0 genome.wustl.edu 37 11 198465 198465 + Frame_Shift_Del DEL C C - TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 11 198465 198465 C - DEL ODF3 ENST00000325113 human ensembl 74_37 +1 known frame_shift_del c.414 p.A140fs 0.960 NULL pfam_SHIPPO-rpt - no_errors ODF3 HGNC ENSG00000177947 tier1 63 0 0.00 16 2 11.11 11 0 0.00 4 0 0.00 ZMYND19 0 genome.wustl.edu 37 9 140481430 140481430 + Frame_Shift_Del DEL G G - TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 9 140481430 140481430 G - DEL ZMYND19 ENST00000298585 human ensembl 74_37 -1 known frame_shift_del c.348 p.S117fs 1.000 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND19 HGNC ENSG00000165724 tier1 96 0 0.00 19 3 13.64 20 0 0.00 6 0 0.00 BRINP2 0 genome.wustl.edu 37 1 177250848 177250848 + R SNP G G A TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 1 177250848 177250848 G A SNP BRINP2 ENST00000478325 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors BRINP2 HGNC ENSG00000198797 tier1 - - 54 0 0.00 27 8 22.86 2 0 0.00 6 0 0.00 MN1 0 genome.wustl.edu 37 22 28194934 28194936 + In_Frame_Del DEL TGC TGC - TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 TGC TGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 22 28194934 28194936 TGC - DEL MN1 ENST00000302326 human ensembl 74_37 -1 known in_frame_del c.1598_1596 p.Q536in_frame_del 1.000:1.000:0.998 NULL NULL - no_errors MN1 HGNC ENSG00000169184 tier1 51 0 0.00 30 3 9.09 1 0 0.00 5 0 0.00 OR7E14P 0 genome.wustl.edu 37 11 17073884 17073884 + R SNP G G A TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 11 17073884 17073884 G A SNP OR7E14P ENST00000530490 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors OR7E14P HGNC ENSG00000184669 tier1 - - 100 1 0.99 67 7 9.46 0 0 0.00 2 0 0.00 PBX2P1 0 genome.wustl.edu 37 3 142897154 142897154 + R SNP A A T TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 3 142897154 142897154 A T SNP PBX2P1 ENST00000560287 human ensembl 74_37 +1 known rna NULL NULL 0.993 - - - no_errors PBX2P1 HGNC ENSG00000244171 tier1 - - 122 0 0.00 82 8 8.89 0 0 0.00 1 0 0.00 PDCD6 0 genome.wustl.edu 37 5 271858 271869 + In_Frame_Del DEL CCGGCCCTGGGG CCGGCCCTGGGG - TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 CCGGCCCTGGGG CCGGCCCTGGGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 5 271858 271869 CCGGCCCTGGGG - DEL PDCD6 ENST00000264933 human ensembl 74_37 +1 known in_frame_del c.23_34 p.AGPG12in_frame_del 0.730:0.549:0.748:0.757:0.746:0.751:0.779:0.760:0.906:0.916:0.892:0.925 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors PDCD6 HGNC ENSG00000249915 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 TBCA 0 genome.wustl.edu 37 5 77072041 77072041 + Missense_Mutation SNP C C T TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 5 77072041 77072041 C T SNP TBCA ENST00000380377 human ensembl 74_37 -1 known missense c.41 p.G14D 1.000 pfam_CofA_tubulin-bd,superfamily_CofA_tubulin-bd pfam_CofA_tubulin-bd,superfamily_CofA_tubulin-bd - no_errors TBCA HGNC ENSG00000171530 tier1 - - 54 0 0.00 37 4 9.76 0 0 0.00 5 0 0.00 THOC3 0 genome.wustl.edu 37 5 175395009 175395009 + Missense_Mutation SNP C C T TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 5 175395009 175395009 C T SNP THOC3 ENST00000265097 human ensembl 74_37 -1 known missense c.203 p.R68H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TIF_beta_prop-like,pfam_PD40,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors THOC3 HGNC ENSG00000051596 tier1 - - 64 0 0.00 29 4 12.12 1 0 0.00 5 0 0.00 UFL1 0 genome.wustl.edu 37 6 96969559 96969578 + R DEL AACCCCCAGCGCCGCGGTAC AACCCCCAGCGCCGCGGTAC - TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 AACCCCCAGCGCCGCGGTAC AACCCCCAGCGCCGCGGTAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 6 96969559 96969578 AACCCCCAGCGCCGCGGTAC - DEL UFL1 ENST00000461673 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000:0.000:0.000:0.001:0.001:0.000:0.001:0.001:0.003:0.006:0.006:0.002:0.000:0.000:0.000:0.000:0.000:0.000 - - - no_errors UFL1 HGNC ENSG00000014123 tier1 2 0 0.00 2 0 0.00 2 0 0.00 2 0 0.00 LPCAT1 0 genome.wustl.edu 37 5 1461841 1461842 + R INS - - T TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 5 1461841 1461842 - T INS LPCAT1 ENST00000503252 human ensembl 74_37 -1 known rna NULL NULL 0.665:0.773 - - - no_errors LPCAT1 HGNC ENSG00000153395 tier1 90 0 0.00 45 4 8.16 114 0 0.00 119 3 2.46 GALC 0 genome.wustl.edu 37 14 88454869 88454870 + Splice_Site INS - - A TCGA-DX-A7EM-01A-11D-A36J-09 TCGA-DX-A7EM-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq de108904-cf45-4b19-9a45-e00f2a196711 da54443c-60f6-47cc-972a-f0a18afcf190 14 88454869 88454870 - A INS GALC ENST00000261304 human ensembl 74_37 -1 known splice_site_ins c.196-3_196-2 e2-2 1.000:0.945 - - - no_errors GALC HGNC ENSG00000054983 tier1 29 0 0.00 20 4 16.67 70 0 0.00 62 2 3.12