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 TP63 0 genome.wustl.edu 37 3 189604233 189604233 + Missense_Mutation SNP A A G TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 3 189604233 189604233 A G SNP TP63 ENST00000264731 human ensembl 74_37 +1 known missense c.1400 p.N467S 1.000 NULL pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_D-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP63 HGNC ENSG00000073282 tier1 - - 104 0 0.00 84 13 13.27 101 0 0.00 66 11 14.29 ST3GAL5 0 genome.wustl.edu 37 2 86090503 86090503 + Missense_Mutation SNP A A G TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 2 86090503 86090503 A G SNP ST3GAL5 ENST00000377332 human ensembl 74_37 -1 known missense c.188 p.L63S 0.979 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL5 HGNC ENSG00000115525 tier1 - - 116 0 0.00 78 44 35.77 116 0 0.00 69 26 27.08 TDRD7 0 genome.wustl.edu 37 9 100235889 100235889 + Missense_Mutation SNP A A G TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 9 100235889 100235889 A G SNP TDRD7 ENST00000355295 human ensembl 74_37 +1 known missense c.2060 p.E687G 1.000 pfam_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD7 HGNC ENSG00000196116 tier1 - - 77 0 0.00 87 20 18.69 137 0 0.00 91 26 22.22 SLC35G1 0 genome.wustl.edu 37 10 95658334 95658334 + Missense_Mutation SNP A A G TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 10 95658334 95658334 A G SNP SLC35G1 ENST00000427197 human ensembl 74_37 +1 known missense c.185 p.K62R 1.000 NULL pfam_DMT - no_errors SLC35G1 HGNC ENSG00000176273 tier1 - - 66 0 0.00 29 16 35.56 122 0 0.00 59 28 32.18 BPIFC 0 genome.wustl.edu 37 22 32843215 32843215 + Missense_Mutation SNP A A T TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 22 32843215 32843215 A T SNP BPIFC ENST00000300399 human ensembl 74_37 -1 known missense c.358 p.F120I 0.001 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFC HGNC ENSG00000184459 tier1 - - 91 0 0.00 56 33 37.08 130 0 0.00 78 31 28.44 C20orf112 0 genome.wustl.edu 37 20 31099150 31099150 + Missense_Mutation SNP C C G TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 20 31099150 31099150 C G SNP C20orf112 ENST00000201961 human ensembl 74_37 -1 known missense c.417 p.Q139H 1.000 NULL NULL - no_errors C20orf112 HGNC ENSG00000197183 tier1 - - 81 0 0.00 61 19 23.75 63 0 0.00 52 11 17.46 PRH2 0 genome.wustl.edu 37 12 11082885 11082885 + Missense_Mutation SNP G G A TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 12 11082885 11082885 G A SNP PRH2 ENST00000381847 human ensembl 74_37 +1 known missense c.82 p.V28I 0.000 NULL NULL - no_errors PRH2 HGNC ENSG00000134551 tier1 - - 77 0 0.00 40 13 24.53 46 0 0.00 23 9 28.12 KLHDC7B 0 genome.wustl.edu 37 22 50986680 50986680 + Missense_Mutation SNP C C T TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 22 50986680 50986680 C T SNP KLHDC7B ENST00000395676 human ensembl 74_37 +1 known missense c.85 p.P29S 0.004 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7B HGNC ENSG00000130487 tier1 - - 88 0 0.00 58 26 30.95 50 0 0.00 21 12 36.36 ZNF607 0 genome.wustl.edu 37 19 38189646 38189646 + Silent SNP T T C TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 19 38189646 38189646 T C SNP ZNF607 ENST00000355202 human ensembl 74_37 -1 known silent c.1386 p.S462 0.053 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF607 HGNC ENSG00000198182 tier1 - - 76 0 0.00 74 24 24.49 126 0 0.00 69 14 16.67 CEP290 0 genome.wustl.edu 37 12 88496697 88496697 + Missense_Mutation SNP T T C TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 12 88496697 88496697 T C SNP CEP290 ENST00000309041 human ensembl 74_37 -1 known missense c.2915 p.N972S 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 tier1 - - 88 0 0.00 51 25 32.89 113 0 0.00 54 27 33.33 ENSG00000262903 0 genome.wustl.edu 37 17 3560153 3560153 + R SNP T T C TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 17 3560153 3560153 T C SNP ENSG00000262903 ENST00000575741 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-235E17.6 Clone_based_vega_gene ENSG00000262903 tier1 - - 37 0 0.00 11 17 60.71 68 0 0.00 23 18 43.90 GBA 0 genome.wustl.edu 37 1 155206233 155206233 + Missense_Mutation SNP A A T TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 1 155206233 155206233 A T SNP GBA ENST00000327247 human ensembl 74_37 -1 known missense c.1027 p.Y343N 0.998 pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_30 - no_errors GBA HGNC ENSG00000177628 tier1 - - 113 0 0.00 63 27 30.00 60 0 0.00 27 15 35.71 GATA3 0 genome.wustl.edu 37 10 8105992 8105992 + Missense_Mutation SNP C C A TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 10 8105992 8105992 C A SNP GATA3 ENST00000379328 human ensembl 74_37 +1 known missense c.815 p.T272N 1.000 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 tier1 - - 98 0 0.00 25 24 48.98 78 0 0.00 24 35 59.32 F2R 0 genome.wustl.edu 37 5 76028937 76028937 + Missense_Mutation SNP G G T TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 5 76028937 76028937 G T SNP F2R ENST00000319211 human ensembl 74_37 +1 known missense c.887 p.C296F 0.757 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thrmbn_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thrmbn_rcpt,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors F2R HGNC ENSG00000181104 tier1 - - 57 0 0.00 59 27 31.40 62 0 0.00 54 8 12.90 OR6C1 0 genome.wustl.edu 37 12 55714741 55714741 + Missense_Mutation SNP C C T TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 12 55714741 55714741 C T SNP OR6C1 ENST00000379668 human ensembl 74_37 +1 known missense c.358 p.R120C 1.000 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 OR6C1 HGNC ENSG00000205330 tier1 rs143845104 - 92 0 0.00 63 32 33.68 52 0 0.00 22 6 21.43 CNN2 0 genome.wustl.edu 37 19 1036080 1036080 + Silent SNP G G C TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 19 1036080 1036080 G C SNP CNN2 ENST00000562958 human ensembl 74_37 +1 novel silent c.405 p.G135 0.002 superfamily_CH-domain pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin - no_errors CNN2 HGNC ENSG00000064666 tier1 - - 64 0 0.00 66 12 15.19 30 0 0.00 37 7 15.91 TJP1 0 genome.wustl.edu 37 15 29996494 29996494 + Missense_Mutation SNP C C G TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 15 29996494 29996494 C G SNP TJP1 ENST00000346128 human ensembl 74_37 -1 known missense c.5084 p.S1695T 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 tier1 - - 49 0 0.00 49 8 14.04 148 0 0.00 95 28 22.58 FGF5 0 genome.wustl.edu 37 4 81209881 81209881 + R SNP A A G TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 4 81209881 81209881 A G SNP FGF5 ENST00000503413 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors FGF5 HGNC ENSG00000138675 tier1 - - 24 0 0.00 13 8 38.10 102 0 0.00 37 19 33.93 MUC17 0 genome.wustl.edu 37 7 100677114 100677114 + Missense_Mutation SNP C C A TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 7 100677114 100677114 C A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.2417 p.P806H 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 110 0 0.00 77 32 29.36 46 0 0.00 25 5 16.67 KIAA1211 0 genome.wustl.edu 37 4 57180682 57180682 + Silent SNP C C T TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 4 57180682 57180682 C T SNP KIAA1211 ENST00000504228 human ensembl 74_37 +1 known silent c.1014 p.D338 0.000 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 tier1 - - 37 0 0.00 17 5 21.74 3 0 0.00 10 3 23.08 C1orf173 0 genome.wustl.edu 37 1 75037267 75037267 + Missense_Mutation SNP G G C TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 1 75037267 75037267 G C SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.4127 p.S1376C 0.005 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 tier1 - - 34 0 0.00 24 15 37.50 110 0 0.00 61 24 28.24 CTN2 0 genome.wustl.edu 37 2 80816439 80816439 + Missense_Mutation SNP C C T TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 2 80816439 80816439 C T SNP CTN2 ENST00000361291 human ensembl 74_37 +1 known missense c.2120 p.A707V 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTN2 HGNC ENSG00000066032 tier1 - - 103 0 0.00 33 21 38.89 123 0 0.00 22 38 63.33 DIP2A 0 genome.wustl.edu 37 21 47924314 47924314 + Silent SNP G G C TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 21 47924314 47924314 G C SNP DIP2A ENST00000318711 human ensembl 74_37 +1 known silent c.699 p.V233 0.036 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 tier1 - - 85 0 0.00 82 22 21.15 81 0 0.00 66 20 23.26 PRMT2 0 genome.wustl.edu 37 21 48083368 48083368 + Missense_Mutation SNP G G A TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 21 48083368 48083368 G A SNP PRMT2 ENST00000355680 human ensembl 74_37 +1 known missense c.1171 p.G391S 0.995 pfam_Arg_MeTrfase pfam_SH3_domain,pfam_Arg_MeTrfase,pfam_SH3_2,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_tR_Trfase_Trm5/Tyw2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors PRMT2 HGNC ENSG00000160310 tier1 - - 41 0 0.00 37 18 32.73 50 0 0.00 54 18 25.00 ATF6B 0 genome.wustl.edu 37 6 32095994 32095994 + R SNP C C T TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 6 32095994 32095994 C T SNP ATF6B ENST00000468502 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ATF6B HGNC ENSG00000213676 tier1 - - 69 0 0.00 76 20 20.83 57 0 0.00 36 13 26.53 LOC100507002 0 genome.wustl.edu 37 17 63097118 63097118 + R SNP C C A TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 17 63097118 63097118 C A SNP LOC100507002 ENST00000582940 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors RP11-160O5.1 Clone_based_vega_gene ENSG00000263470 tier1 - - 45 0 0.00 9 7 43.75 89 0 0.00 19 17 47.22 MAP1S 0 genome.wustl.edu 37 19 17838873 17838873 + Missense_Mutation SNP C C T TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 19 17838873 17838873 C T SNP MAP1S ENST00000324096 human ensembl 74_37 +1 known missense c.2680 p.R894C 0.070 NULL NULL - no_errors MAP1S HGNC ENSG00000130479 tier1 - - 63 0 0.00 107 19 15.08 11 0 0.00 15 3 16.67 SLCO1B1 0 genome.wustl.edu 37 12 21331641 21331641 + Missense_Mutation SNP T T C TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 12 21331641 21331641 T C SNP SLCO1B1 ENST00000256958 human ensembl 74_37 +1 known missense c.613 p.S205P 0.090 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B1 HGNC ENSG00000134538 tier1 - - 101 0 0.00 72 8 10.00 100 0 0.00 39 19 32.76 PDE4DIP 0 genome.wustl.edu 37 1 144856959 144856959 + Missense_Mutation SNP G G T TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 1 144856959 144856959 G T SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.6526 p.H2176N 0.985 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 tier1 - - 525 0 0.00 410 62 13.11 52 0 0.00 24 6 20.00 ANP32BP1 0 genome.wustl.edu 37 15 75614908 75614908 + R SNP G G A TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 15 75614908 75614908 G A SNP ANP32BP1 ENST00000564205 human ensembl 74_37 -1 known rna NULL NULL 0.170 - - - no_errors ANP32BP1 HGNC ENSG00000259790 tier1 - - 69 0 0.00 54 16 22.86 10 0 0.00 8 4 33.33 CORO7-PAM16 0 genome.wustl.edu 37 16 4411430 4411430 + Missense_Mutation SNP G G A TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 16 4411430 4411430 G A SNP CORO7-PAM16 ENST00000572467 human ensembl 74_37 -1 known missense c.1619 p.T540M 1.000 smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO7-PAM16 HGNC ENSG00000103426 tier1 rs200682379 GMAF=0.0005 133 0 0.00 75 40 34.78 12 0 0.00 6 2 25.00 NPAS3 0 genome.wustl.edu 37 14 34269971 34269971 + Missense_Mutation SNP G G A TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 14 34269971 34269971 G A SNP NPAS3 ENST00000356141 human ensembl 74_37 +1 known missense c.2458 p.A820T 0.998 NULL pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS3 HGNC ENSG00000151322 tier1 - - 22 0 0.00 21 5 19.23 5 0 0.00 4 2 33.33 PLEKHG5 0 genome.wustl.edu 37 1 6529183 6529188 + In_Frame_Del DEL TCCTCC TCCTCC - TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 TCCTCC TCCTCC TCCTCC - TCCTCC TCCTCC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 1 6529183 6529188 TCCTCC - DEL PLEKHG5 ENST00000537245 human ensembl 74_37 -1 known in_frame_del c.2405_2400 p.EE801in_frame_del 0.152:0.271:0.391:0.513:0.634:0.754 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG5 HGNC ENSG00000171680 tier1 5 0 0.00 5 4 44.44 5 0 0.00 5 4 44.44 TCIRG1 0 genome.wustl.edu 37 11 67818126 67818126 + Silent SNP G G A TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 11 67818126 67818126 G A SNP TCIRG1 ENST00000265686 human ensembl 74_37 +1 known silent c.2409 p.L803 1.000 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors TCIRG1 HGNC ENSG00000110719 tier1 - - 85 0 0.00 45 4 8.16 28 0 0.00 7 0 0.00 TNRC18 0 genome.wustl.edu 37 7 5430009 5430011 + In_Frame_Del DEL AAG AAG - TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 7 5430009 5430011 AAG - DEL TNRC18 ENST00000399434 human ensembl 74_37 -1 putative in_frame_del c.372_370 p.L124in_frame_del 0.694:0.670:0.633 NULL NULL - no_errors TNRC18 HGNC ENSG00000182095 tier1 29 0 0.00 32 4 11.11 5 0 0.00 0 0 0.00 EOMES 0 genome.wustl.edu 37 3 27763427 27763428 + In_Frame_Ins INS - - CGGCGC TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 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 ESPNP 0 genome.wustl.edu 37 1 17026022 17026024 + R DEL GGC GGC - TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 GGC GGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 1 17026022 17026024 GGC - DEL ESPNP ENST00000492551 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000:0.992 - - - no_errors ESPNP HGNC ENSG00000268869 tier1 19 0 0.00 21 2 8.70 0 0 0.00 0 0 0.00 MRPL42 0 genome.wustl.edu 37 12 93894747 93894748 + R INS - - A TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4355e545-4c5a-46c9-9bfa-a862afc22ae2 f3905e19-7e5a-43f6-8bd5-778ea63193c5 12 93894747 93894748 - A INS MRPL42 ENST00000552938 human ensembl 74_37 +1 putative rna NULL NULL 0.002:0.008 - - - no_errors MRPL42 HGNC ENSG00000198015 tier1 12 0 0.00 12 3 20.00 0 0 0.00 0 0 0.00