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 COIL 0 genome.wustl.edu 37 17 55028339 55028339 + Silent SNP T T C TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d 17 55028339 55028339 T C SNP COIL ENST00000240316 human ensembl 74_37 -1 known silent c.264 p.R88 0.004 NULL NULL - no_errors COIL HGNC ENSG00000121058 tier1 - - 29 0 0.00 17 18 51.43 45 0 0.00 25 21 45.65 ACTN4 0 genome.wustl.edu 37 19 39195638 39195638 + Silent SNP C C T TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d 19 39195638 39195638 C T SNP ACTN4 ENST00000252699 human ensembl 74_37 +1 known silent c.462 p.A154 1.000 superfamily_CH-domain,pfscan_CH-domain pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN4 HGNC ENSG00000130402 tier1 - - 80 0 0.00 35 33 48.53 97 1 1.02 56 22 28.21 NUP210P1 0 genome.wustl.edu 37 3 126382250 126382250 + R SNP C C T TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d 3 126382250 126382250 C T SNP NUP210P1 ENST00000357061 human ensembl 74_37 +1 known rna NULL NULL 0.424 - - - no_errors NUP210P1 HGNC ENSG00000198284 tier1 - - 38 0 0.00 19 27 58.70 40 0 0.00 33 28 45.90 BNC2 0 genome.wustl.edu 37 9 16552635 16552635 + Missense_Mutation SNP T T A TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d 9 16552635 16552635 T A SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known missense c.562 p.I188F 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 tier1 - - 45 0 0.00 36 22 37.93 70 0 0.00 43 29 40.28 RCC1 0 genome.wustl.edu 37 1 28858479 28858479 + Missense_Mutation SNP G G T TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d 1 28858479 28858479 G T SNP RCC1 ENST00000373831 human ensembl 74_37 +1 known missense c.331 p.V111L 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCC1 HGNC ENSG00000180198 tier1 - - 63 0 0.00 38 25 39.68 70 0 0.00 34 28 45.16 SLFN12L 0 genome.wustl.edu 37 17 33806526 33806526 + Nonsense_Mutation SNP G G A TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d 17 33806526 33806526 G A SNP SLFN12L ENST00000449046 human ensembl 74_37 -1 known nonsense c.796 p.R266* 0.000 pfam_ATPase_AAA-4 pfam_ATPase_AAA-4 - no_errors SLFN12L HGNC ENSG00000205045 tier1 - - 62 0 0.00 44 42 48.84 132 0 0.00 58 45 43.69 LRRFIP2 0 genome.wustl.edu 37 3 37096646 37096646 + Silent SNP A A G TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d 3 37096646 37096646 A G SNP LRRFIP2 ENST00000336686 human ensembl 74_37 -1 known silent c.1881 p.N627 0.995 pfam_Leu-rich_rep_flightless-int_pr,superfamily_Prefoldin pfam_Leu-rich_rep_flightless-int_pr,superfamily_bHLH_dom,superfamily_Prefoldin - no_errors LRRFIP2 HGNC ENSG00000093167 tier1 rs201693185 - 30 0 0.00 28 19 40.43 91 0 0.00 41 35 46.05 NRXN1 0 genome.wustl.edu 37 2 50148734 50148734 + R SNP G G T TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d 2 50148734 50148734 G T SNP NRXN1 ENST00000484192 human ensembl 74_37 -1 known rna NULL NULL 0.985 - - - no_errors NRXN1 HGNC ENSG00000179915 tier1 - - 93 0 0.00 59 42 41.58 168 0 0.00 45 55 55.00 LOXL2 0 genome.wustl.edu 37 8 23225664 23225664 + Silent SNP G G A TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d 8 23225664 23225664 G A SNP LOXL2 ENST00000389131 human ensembl 74_37 -1 known silent c.201 p.H67 1.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL2 HGNC ENSG00000134013 tier1 - - 62 0 0.00 39 36 48.00 60 0 0.00 26 8 23.53 KCNJ2 0 genome.wustl.edu 37 17 68172115 68172115 + Missense_Mutation SNP G G A TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d 17 68172115 68172115 G A SNP KCNJ2 ENST00000243457 human ensembl 74_37 +1 known missense c.935 p.R312H 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.1 - no_errors KCNJ2 HGNC ENSG00000123700 tier1 - - 56 0 0.00 29 23 44.23 66 0 0.00 30 34 53.12 FBN2 0 genome.wustl.edu 37 5 127713448 127713448 + Missense_Mutation SNP C C T TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d 5 127713448 127713448 C T SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.1846 p.V616I 1.000 pirsf_FBN,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 tier1 - - 70 0 0.00 47 28 37.33 121 0 0.00 63 64 49.61 GPR110 0 genome.wustl.edu 37 6 46991854 46991854 + Missense_Mutation SNP G G A TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d 6 46991854 46991854 G A SNP GPR110 ENST00000371253 human ensembl 74_37 -1 known missense c.377 p.T126M 0.001 NULL pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR110 HGNC ENSG00000153292 tier1 rs200254260 GMAF=0.0005 57 0 0.00 37 27 42.19 108 0 0.00 59 53 47.32 TAF1 0 genome.wustl.edu 37 X 70587351 70587351 + Missense_Mutation SNP A A T TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d X 70587351 70587351 A T SNP TAF1 ENST00000449580 human ensembl 74_37 +1 known missense c.183 p.E61D 0.997 pirsf_TAF1_animal,pfam_TAF_II_230-bd,superfamily_TAF_II_230-bd pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 tier1 - - 60 0 0.00 44 17 27.87 138 0 0.00 80 59 42.45 COL20A1 0 genome.wustl.edu 37 20 61952385 61952385 + Silent SNP C C T TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d 20 61952385 61952385 C T SNP COL20A1 ENST00000326996 human ensembl 74_37 +1 known silent c.3174 p.P1058 0.008 NULL pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC ENSG00000101203 tier1 - - 146 1 0.68 81 82 50.31 63 0 0.00 25 30 53.57 YEATS2 0 genome.wustl.edu 37 3 183495458 183495458 + Missense_Mutation SNP C C G TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d 3 183495458 183495458 C G SNP YEATS2 ENST00000305135 human ensembl 74_37 +1 known missense c.2706 p.I902M 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC ENSG00000163872 tier1 - - 73 0 0.00 42 37 46.84 167 0 0.00 74 55 42.31 ZNF114 0 genome.wustl.edu 37 19 48789076 48789076 + Missense_Mutation SNP A A T TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d 19 48789076 48789076 A T SNP ZNF114 ENST00000315849 human ensembl 74_37 +1 known missense c.195 p.K65N 0.000 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 ZNF114 HGNC ENSG00000178150 tier1 - - 59 0 0.00 36 40 52.63 145 0 0.00 60 63 50.00 SF1 0 genome.wustl.edu 37 11 64544038 64544038 + Missense_Mutation SNP G G A TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d 11 64544038 64544038 G A SNP SF1 ENST00000377390 human ensembl 74_37 -1 known missense c.92 p.T31I 0.998 NULL pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1 - no_errors SF1 HGNC ENSG00000168066 tier1 - - 64 0 0.00 31 32 50.79 105 0 0.00 47 35 42.68 OR5AS1 0 genome.wustl.edu 37 11 55798441 55798441 + Missense_Mutation SNP C C A TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d 11 55798441 55798441 C A SNP OR5AS1 ENST00000313555 human ensembl 74_37 +1 known missense c.547 p.P183T 0.576 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AS1 HGNC ENSG00000181785 tier1 - - 12 0 0.00 16 15 48.39 98 0 0.00 39 30 43.48 STXBP5L 0 genome.wustl.edu 37 3 120941941 120941941 + Missense_Mutation SNP G G T TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d 3 120941941 120941941 G T SNP STXBP5L ENST00000273666 human ensembl 74_37 +1 known missense c.1048 p.V350L 1.000 pfam_LLGL2,superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5L HGNC ENSG00000145087 tier1 - - 35 0 0.00 24 23 48.94 153 0 0.00 71 53 42.74 ACSL4 0 genome.wustl.edu 37 X 108904872 108904872 + Missense_Mutation SNP G G A TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d X 108904872 108904872 G A SNP ACSL4 ENST00000340800 human ensembl 74_37 -1 known missense c.1708 p.R570C 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL4 HGNC ENSG00000068366 tier1 - - 39 0 0.00 29 25 46.30 108 0 0.00 43 38 46.91 ASPM 0 genome.wustl.edu 37 1 197071130 197071130 + Missense_Mutation SNP C C A TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d 1 197071130 197071130 C A SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.7251 p.R2417S 0.022 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 tier1 - - 54 0 0.00 25 54 68.35 134 0 0.00 67 129 65.82 TTN 0 genome.wustl.edu 37 2 179416435 179416435 + Missense_Mutation SNP G G C TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d 2 179416435 179416435 G C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.83488 p.R27830G 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 62 0 0.00 35 32 47.76 207 0 0.00 76 53 40.77 MORC2 0 genome.wustl.edu 37 22 31328907 31328907 + Missense_Mutation SNP C C T TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d 22 31328907 31328907 C T SNP MORC2 ENST00000397641 human ensembl 74_37 -1 known missense c.2491 p.V831M 1.000 NULL pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Carb-bd_dom,pfscan_Znf_CW - no_errors MORC2 HGNC ENSG00000133422 tier1 - - 49 0 0.00 41 26 38.81 110 0 0.00 52 40 43.48 PRADC1 0 genome.wustl.edu 37 2 73455974 73455974 + Missense_Mutation SNP C C G TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d 2 73455974 73455974 C G SNP PRADC1 ENST00000258083 human ensembl 74_37 -1 known missense c.395 p.S132T 1.000 pfam_Protease-assoc_domain pfam_Protease-assoc_domain - no_errors PRADC1 HGNC ENSG00000135617 tier1 - - 53 0 0.00 35 28 44.44 70 0 0.00 31 30 49.18 CFP 0 genome.wustl.edu 37 X 47486725 47486725 + Missense_Mutation SNP C C T TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d X 47486725 47486725 C T SNP CFP ENST00000247153 human ensembl 74_37 -1 known missense c.581 p.G194E 1.000 superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors CFP HGNC ENSG00000126759 tier1 - - 89 0 0.00 58 32 35.56 33 0 0.00 14 15 51.72 LUC7L3 0 genome.wustl.edu 37 17 48827881 48827881 + Missense_Mutation SNP T T G TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d 17 48827881 48827881 T G SNP LUC7L3 ENST00000240304 human ensembl 74_37 +1 known missense c.1158 p.D386E 1.000 NULL pfam_Luc7-rel - no_errors LUC7L3 HGNC ENSG00000108848 tier1 - - 41 0 0.00 32 18 36.00 83 0 0.00 45 62 57.94 BTBD11 0 genome.wustl.edu 37 12 108004005 108004005 + Missense_Mutation SNP C C T TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d 12 108004005 108004005 C T SNP BTBD11 ENST00000280758 human ensembl 74_37 +1 known missense c.1682 p.A561V 1.000 NULL pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 tier1 - - 40 0 0.00 23 29 55.77 124 1 0.80 39 48 55.17 MLC1 0 genome.wustl.edu 37 22 50518372 50518372 + Missense_Mutation SNP A A G TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d 22 50518372 50518372 A G SNP MLC1 ENST00000311597 human ensembl 74_37 -1 known missense c.398 p.L133P 0.997 NULL NULL - no_errors MLC1 HGNC ENSG00000100427 tier1 - - 69 0 0.00 48 37 43.53 186 1 0.53 73 59 44.70 KCNG4 0 genome.wustl.edu 37 16 84256307 84256307 + Missense_Mutation SNP G G T TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d 16 84256307 84256307 G T SNP KCNG4 ENST00000308251 human ensembl 74_37 -1 known missense c.1076 p.T359K 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG4 HGNC ENSG00000168418 tier1 - - 24 0 0.00 25 4 13.79 10 0 0.00 9 0 0.00 POU4F3 0 genome.wustl.edu 37 5 145719326 145719326 + Silent SNP C C T TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d 5 145719326 145719326 C T SNP POU4F3 ENST00000230732 human ensembl 74_37 +1 known silent c.336 p.H112 1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F3 HGNC ENSG00000091010 tier1 - - 40 0 0.00 18 21 53.85 27 0 0.00 9 1 10.00 R5-8SP6 0 genome.wustl.edu 37 Y 10037819 10037819 + R SNP T T G TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d Y 10037819 10037819 T G SNP R5-8SP6 ENST00000515896 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors R5-8SP6 HGNC ENSG00000251705 tier1 - - 61 0 0.00 75 7 8.54 6 0 0.00 3 0 0.00 CXCL5 0 genome.wustl.edu 37 4 74864215 74864217 + In_Frame_Del DEL CAG CAG - TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d 4 74864215 74864217 CAG - DEL CXCL5 ENST00000296027 human ensembl 74_37 -1 known in_frame_del c.84_82 p.L28in_frame_del 0.072:0.215:0.363 superfamily_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC - no_errors CXCL5 HGNC ENSG00000163735 tier1 34 0 0.00 19 4 17.39 4 0 0.00 1 0 0.00 ENSG00000216102 0 genome.wustl.edu 37 19 9931256 9931261 + R DEL ATACAC ATACAC - TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 ATACAC ATACAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d 19 9931256 9931261 ATACAC - DEL ENSG00000216102 ENST00000401283 human ensembl 74_37 +1 novel rna NULL NULL 0.001:0.002:0.004:0.003:0.003:0.001 - - - no_errors AC008752.1 Clone_based_ensembl_gene ENSG00000216102 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 EOMES 0 genome.wustl.edu 37 3 27763427 27763428 + In_Frame_Ins INS - - CGGCGC TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d 3 27763427 27763428 - CGGCGC INS EOMES ENST00000449599 human ensembl 74_37 -1 known in_frame_ins c.359_358 p.120in_frame_insGA 0.116:0.075 NULL pfam_TF_T-box,superfamily_p53-like_TF_D-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors EOMES HGNC ENSG00000163508 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 FOXD4L5 0 genome.wustl.edu 37 9 70177160 70177160 + Missense_Mutation SNP G G A TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d 9 70177160 70177160 G A SNP FOXD4L5 ENST00000377420 human ensembl 74_37 -1 known missense c.824 p.A275V 0.999 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L5 HGNC ENSG00000204779 tier1 - - 104 1 0.95 112 21 15.79 0 0 0.00 0 0 0.00 LINC00200 0 genome.wustl.edu 37 10 1205736 1205736 + R SNP A A G TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d 10 1205736 1205736 A G SNP LINC00200 ENST00000425630 human ensembl 74_37 +1 known rna NULL NULL 0.155 - - - no_errors LINC00200 HGNC ENSG00000229205 tier1 rs60415666 - 26 0 0.00 12 4 25.00 0 0 0.00 3 0 0.00 PRAMEF5 0 genome.wustl.edu 37 1 13366043 13366043 + Missense_Mutation SNP T T C TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d 1 13366043 13366043 T C SNP PRAMEF5 ENST00000376168 human ensembl 74_37 +1 known missense c.487 p.Y163H 0.002 NULL NULL - no_errors PRAMEF5 HGNC ENSG00000204502 tier1 - - 19 0 0.00 9 3 25.00 0 0 0.00 0 0 0.00 R5-8SP6 0 genome.wustl.edu 37 Y 10037863 10037863 + R DEL C C - TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d Y 10037863 10037863 C - DEL R5-8SP6 ENST00000515896 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors R5-8SP6 HGNC ENSG00000251705 tier1 42 0 0.00 56 6 9.68 3 0 0.00 2 0 0.00 CYP11B1 0 genome.wustl.edu 37 8 143961100 143961100 + Missense_Mutation SNP G G A TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d 8 143961100 143961100 G A SNP CYP11B1 ENST00000292427 human ensembl 74_37 -1 known missense c.130 p.R44C 0.099 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC ENSG00000160882 tier1 - - 41 0 0.00 22 20 47.62 3 0 0.00 1 2 66.67 MT-CO2 0 genome.wustl.edu 37 MT 8091 8091 + Missense_Mutation SNP G G C TCGA-FX-A8OO-01A-11D-A36J-09 TCGA-FX-A8OO-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3def8194-e7e6-4872-be76-50bedf6b1339 bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d MT 8091 8091 G C SNP MT-CO2 ENST00000361739 human ensembl 74_37 +1 known missense c.506 p.G169A NULL pfam_Cyt_c_oxidase_su2_C,superfamily_Cupredoxin,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 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 - - 117 0 0.00 3 83 96.51 0 0 0.00 0 3 100.00