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 OR13C5 0 genome.wustl.edu 37 9 107361256 107361256 + Missense_Mutation SNP C C T TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 9 107361256 107361256 C T SNP OR13C5 ENST00000374779 human ensembl 74_37 -1 known missense c.439 p.G147R 0.012 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C5 HGNC ENSG00000255800 tier1 - - 65 0 0.00 36 13 26.53 53 0 0.00 59 43 42.16 IL13RA2 0 genome.wustl.edu 37 X 114248419 114248419 + Missense_Mutation SNP C C T TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e X 114248419 114248419 C T SNP IL13RA2 ENST00000243213 human ensembl 74_37 -1 known missense c.434 p.C145Y 0.884 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors IL13RA2 HGNC ENSG00000123496 tier1 - - 80 0 0.00 18 23 56.10 141 0 0.00 46 76 62.30 SERPINB9 0 genome.wustl.edu 37 6 2890727 2890727 + Silent SNP A A G TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 6 2890727 2890727 A G SNP SERPINB9 ENST00000380698 human ensembl 74_37 -1 known silent c.801 p.V267 0.001 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin - no_errors SERPINB9 HGNC ENSG00000170542 tier1 - - 21 0 0.00 7 15 68.18 110 0 0.00 51 54 51.43 TRIM44 0 genome.wustl.edu 37 11 35828045 35828045 + R SNP C C T TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 11 35828045 35828045 C T SNP TRIM44 ENST00000532066 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TRIM44 HGNC ENSG00000166326 tier1 - - 73 0 0.00 42 18 30.00 79 0 0.00 108 34 23.94 PCDH15 0 genome.wustl.edu 37 10 56129015 56129015 + Silent SNP G G A TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 10 56129015 56129015 G A SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known silent c.339 p.S113 1.000 smart_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 59 0 0.00 23 16 41.03 70 0 0.00 22 39 63.93 CDK4 0 genome.wustl.edu 37 12 58145458 58145458 + Missense_Mutation SNP C C G TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 12 58145458 58145458 C G SNP CDK4 ENST00000257904 human ensembl 74_37 -1 known missense c.43 p.G15R 0.999 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK4 HGNC ENSG00000135446 tier1 - - 27 0 0.00 9 5 35.71 80 0 0.00 78 26 25.00 LINC01010 0 genome.wustl.edu 37 6 134824057 134824057 + R SNP A A G TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 6 134824057 134824057 A G SNP LINC01010 ENST00000431422 human ensembl 74_37 +1 known rna NULL NULL 0.013 - - - no_errors LINC01010 HGNC ENSG00000236700 tier1 - - 22 0 0.00 14 7 33.33 77 0 0.00 73 27 27.00 RGMB 0 genome.wustl.edu 37 5 98129279 98129279 + Missense_Mutation SNP C C A TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 5 98129279 98129279 C A SNP RGMB ENST00000308234 human ensembl 74_37 +1 known missense c.1259 p.T420N 1.000 pfam_RGM_C pfam_RGM_C,pfam_RGM_N - no_errors RGMB HGNC ENSG00000174136 tier1 - - 50 0 0.00 30 22 42.31 65 0 0.00 78 42 35.00 PIGC 0 genome.wustl.edu 37 1 172411323 172411323 + Missense_Mutation SNP T T A TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 1 172411323 172411323 T A SNP PIGC ENST00000258324 human ensembl 74_37 -1 known missense c.440 p.D147V 1.000 pfam_Plno_Glcc_GPI2,pirsf_Plno_Glcc_GPI2 pfam_Plno_Glcc_GPI2,pirsf_Plno_Glcc_GPI2 - no_errors PIGC HGNC ENSG00000135845 tier1 - - 16 0 0.00 10 8 44.44 52 0 0.00 62 43 40.95 C12orf55 0 genome.wustl.edu 37 12 97102550 97102550 + Silent SNP C C T TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 12 97102550 97102550 C T SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative silent c.6693 p.N2231 0.000 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 tier1 - - 16 0 0.00 20 14 41.18 127 0 0.00 114 48 29.63 CLCN2 0 genome.wustl.edu 37 3 184071063 184071063 + Missense_Mutation SNP G G A TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 3 184071063 184071063 G A SNP CLCN2 ENST00000265593 human ensembl 74_37 -1 known missense c.2003 p.T668I 0.990 NULL pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2 - no_errors CLCN2 HGNC ENSG00000114859 tier1 - - 60 0 0.00 15 35 34.31 33 0 0.00 16 36 33.64 P2RX2 0 genome.wustl.edu 37 12 133198160 133198160 + Missense_Mutation SNP G G A TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 12 133198160 133198160 G A SNP P2RX2 ENST00000343948 human ensembl 74_37 +1 known missense c.1096 p.G366R 0.000 NULL pfam_P2X_purnocptor,prints_P2X2_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX2 HGNC ENSG00000187848 tier1 rs199514327 - 43 0 0.00 23 14 37.84 42 0 0.00 58 38 39.58 OCIAD1 0 genome.wustl.edu 37 4 48835496 48835496 + Missense_Mutation SNP G G C TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 4 48835496 48835496 G C SNP OCIAD1 ENST00000264312 human ensembl 74_37 +1 known missense c.137 p.R46T 1.000 pfam_OCIA pfam_OCIA - no_errors OCIAD1 HGNC ENSG00000109180 tier1 - - 45 0 0.00 39 26 40.00 75 0 0.00 84 30 26.32 SPTA1 0 genome.wustl.edu 37 1 158581004 158581004 + R SNP T T C TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 1 158581004 158581004 T C SNP SPTA1 ENST00000485680 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SPTA1 HGNC ENSG00000163554 tier1 - - 32 0 0.00 17 10 37.04 106 0 0.00 123 75 37.31 ZNF729 0 genome.wustl.edu 37 19 22498491 22498491 + Missense_Mutation SNP C C T TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 19 22498491 22498491 C T SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel missense c.2272 p.H758Y 0.700 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 ZNF729 HGNC ENSG00000196350 tier1 - - 38 0 0.00 21 6 22.22 39 0 0.00 43 28 38.89 DARS 0 genome.wustl.edu 37 2 136742985 136742985 + Missense_Mutation SNP C C A TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 2 136742985 136742985 C A SNP DARS ENST00000264161 human ensembl 74_37 -1 known missense c.54 p.M18I 1.000 NULL pfam_aa-tR-synt_II,pfam_-bd_OB_tR,superfamily_-bd_OB-fold,pfscan_aa-tR-synth_II,prints_Asp/Asn-tR-synth_IIb,tigrfam_Asp-tR_synthase - no_errors DARS HGNC ENSG00000115866 tier1 - - 111 0 0.00 71 42 37.17 45 0 0.00 52 38 42.22 DISP2 0 genome.wustl.edu 37 15 40661057 40661057 + Missense_Mutation SNP C C T TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 15 40661057 40661057 C T SNP DISP2 ENST00000267889 human ensembl 74_37 +1 known missense c.2744 p.P915L 0.991 NULL pfscan_SSD - no_errors DISP2 HGNC ENSG00000140323 tier1 - - 55 0 0.00 35 18 33.96 72 0 0.00 74 41 35.65 NHS 0 genome.wustl.edu 37 X 17742527 17742527 + Missense_Mutation SNP C C T TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e X 17742527 17742527 C T SNP NHS ENST00000380060 human ensembl 74_37 +1 known missense c.1154 p.P385L 1.000 NULL NULL - no_errors NHS HGNC ENSG00000188158 tier1 - - 32 0 0.00 25 5 16.67 144 0 0.00 157 18 10.29 TEX14 0 genome.wustl.edu 37 17 56679184 56679184 + Missense_Mutation SNP A A G TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 17 56679184 56679184 A G SNP TEX14 ENST00000240361 human ensembl 74_37 -1 known missense c.1679 p.I560T 0.077 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors TEX14 HGNC ENSG00000121101 tier1 - - 34 0 0.00 23 12 34.29 101 0 0.00 118 69 36.90 ENSG00000184566 0 genome.wustl.edu 37 11 33902977 33902977 + Missense_Mutation SNP T T C TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 11 33902977 33902977 T C SNP ENSG00000184566 ENST00000330381 human ensembl 74_37 +1 known missense c.329 p.V110A 0.896 NULL NULL - no_errors AC132216.1 Clone_based_ensembl_gene ENSG00000184566 tier1 - - 19 0 0.00 9 7 43.75 130 0 0.00 117 81 40.91 TGM1 0 genome.wustl.edu 37 14 24727837 24727837 + Missense_Mutation SNP A A C TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 14 24727837 24727837 A C SNP TGM1 ENST00000206765 human ensembl 74_37 -1 known missense c.1202 p.F401C 1.000 pfam_Transglutaminase-like,smart_Transglutaminase-like pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM1 HGNC ENSG00000092295 tier1 - - 57 0 0.00 19 16 45.71 88 0 0.00 52 58 52.73 DLX1 0 genome.wustl.edu 37 2 172952850 172952850 + Silent SNP C C G TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 2 172952850 172952850 C G SNP DLX1 ENST00000361725 human ensembl 74_37 +1 known silent c.633 p.P211 0.001 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX1 HGNC ENSG00000144355 tier1 - - 47 0 0.00 23 9 28.12 64 0 0.00 56 32 35.56 CYP3A7 0 genome.wustl.edu 37 7 99314839 99314839 + Missense_Mutation SNP C C T TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 7 99314839 99314839 C T SNP CYP3A7 ENST00000336374 human ensembl 74_37 -1 known missense c.482 p.R161K 0.046 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP3A7 HGNC ENSG00000160870 tier1 - - 51 0 0.00 39 7 15.22 88 0 0.00 129 16 11.03 ANKRD27 0 genome.wustl.edu 37 19 33137460 33137460 + Missense_Mutation SNP A A G TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 19 33137460 33137460 A G SNP ANKRD27 ENST00000306065 human ensembl 74_37 -1 known missense c.275 p.V92A 1.000 NULL pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt - no_errors ANKRD27 HGNC ENSG00000105186 tier1 - - 24 0 0.00 17 7 29.17 117 0 0.00 130 24 15.58 SUGP2 0 genome.wustl.edu 37 19 19136447 19136447 + Missense_Mutation SNP G G C TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 19 19136447 19136447 G C SNP SUGP2 ENST00000337018 human ensembl 74_37 -1 known missense c.710 p.A237G 0.783 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP2 HGNC ENSG00000064607 tier1 - - 71 0 0.00 38 31 44.93 105 0 0.00 137 70 33.82 C10orf76 0 genome.wustl.edu 37 10 103783275 103783275 + Missense_Mutation SNP C C G TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 10 103783275 103783275 C G SNP C10orf76 ENST00000370033 human ensembl 74_37 -1 known missense c.628 p.V210L 1.000 superfamily_ARM-type_fold pfam_DUF1741,superfamily_ARM-type_fold - no_errors C10orf76 HGNC ENSG00000120029 tier1 - - 28 0 0.00 9 11 55.00 130 0 0.00 29 45 60.81 REPS1 0 genome.wustl.edu 37 6 139265676 139265676 + Missense_Mutation SNP G G T TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 6 139265676 139265676 G T SNP REPS1 ENST00000450536 human ensembl 74_37 -1 known missense c.712 p.P238T 1.000 NULL smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors REPS1 HGNC ENSG00000135597 tier1 - - 34 0 0.00 15 14 48.28 107 0 0.00 126 73 36.68 GMEB1 0 genome.wustl.edu 37 1 29041385 29041386 + R INS - - A TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 1 29041385 29041386 - A INS GMEB1 ENST00000480454 human ensembl 74_37 +1 known rna NULL NULL 0.437:0.252 - - - no_errors GMEB1 HGNC ENSG00000162419 tier1 21 0 0.00 24 3 11.11 61 0 0.00 124 14 10.14 MAP7D1 0 genome.wustl.edu 37 1 36644133 36644133 + Missense_Mutation SNP C C T TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 1 36644133 36644133 C T SNP MAP7D1 ENST00000373151 human ensembl 74_37 +1 known missense c.1822 p.R608C 1.000 pfam_MAP7 pfam_MAP7 - no_errors MAP7D1 HGNC ENSG00000116871 tier1 - - 50 0 0.00 12 26 68.42 6 0 0.00 8 16 66.67 DCAF7 0 genome.wustl.edu 37 17 61666515 61666515 + Missense_Mutation SNP T T C TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 17 61666515 61666515 T C SNP DCAF7 ENST00000310827 human ensembl 74_37 +1 known missense c.1010 p.L337P 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF7 HGNC ENSG00000136485 tier1 - - 40 0 0.00 43 4 8.51 78 0 0.00 110 5 4.35 CCT6A 0 genome.wustl.edu 37 7 56129482 56129482 + Missense_Mutation SNP G G T TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 7 56129482 56129482 G T SNP CCT6A ENST00000275603 human ensembl 74_37 +1 known missense c.1390 p.V464F 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6A HGNC ENSG00000146731 tier1 - - 42 0 0.00 49 7 12.50 24 0 0.00 51 4 7.27 ETV5 0 genome.wustl.edu 37 3 185797767 185797767 + Silent SNP G G A TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 3 185797767 185797767 G A SNP ETV5 ENST00000537818 human ensembl 74_37 -1 known silent c.615 p.A205 0.587 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV5 HGNC ENSG00000244405 tier1 - - 33 0 0.00 16 8 33.33 8 0 0.00 4 0 0.00 PNKP 0 genome.wustl.edu 37 19 50370442 50370442 + Frame_Shift_Del DEL G G - TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 19 50370442 50370442 G - DEL PNKP ENST00000322344 human ensembl 74_37 -1 known frame_shift_del c.20 p.P7fs 0.000 superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met pfam_PNK3P,superfamily_HAD-like_dom,superfamily_SMAD_FHA_domain,superfamily_P-loop_NTPase,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA - no_errors PNKP HGNC ENSG00000039650 tier1 11 0 0.00 11 2 15.38 6 0 0.00 6 0 0.00 ENSG00000216154 0 genome.wustl.edu 37 4 123928724 123928751 + R DEL TGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTG - TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 TGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 4 123928724 123928751 TGTGTGTGTGTGTGTGTGTGTGTGTGTG - DEL ENSG00000216154 ENST00000401335 human ensembl 74_37 -1 novel rna NULL NULL 0.008:0.004:0.004:0.003:0.003:0.003:0.005:0.006:0.007:0.007:0.007:0.006:0.005:0.003:0.004:0.003:0.005:0.006:0.012:0.017:0.021:0.026:0.029:0.032:0.035:0.037:0.038:0.039 - - - no_errors AC109357.1 Clone_based_ensembl_gene ENSG00000216154 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 ENSG00000230615 0 genome.wustl.edu 37 1 44570004 44570004 + R SNP T T G TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 1 44570004 44570004 T G SNP ENSG00000230615 ENST00000434244 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP5-1198O20.4 Clone_based_vega_gene ENSG00000230615 tier1 - - 29 0 0.00 19 4 17.39 1 0 0.00 1 0 0.00 ENSG00000270726 0 genome.wustl.edu 37 X 155252987 155252988 + R INS - - CAGCACCAC TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e X 155252987 155252988 - CAGCACCAC INS ENSG00000270726 ENST00000285718 human ensembl 74_37 +1 known rna NULL NULL 0.959:1.000 - - - no_errors AJ271736.10 Clone_based_vega_gene ENSG00000270726 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 LINC00200 0 genome.wustl.edu 37 10 1205801 1205801 + R SNP C C A TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 10 1205801 1205801 C A SNP LINC00200 ENST00000425630 human ensembl 74_37 +1 known rna NULL NULL 0.025 - - - no_errors LINC00200 HGNC ENSG00000229205 tier1 rs12763661 - 35 0 0.00 17 5 22.73 0 0 0.00 0 1 100.00 MIR3689B 0 genome.wustl.edu 37 9 137742013 137742013 + R SNP C C G TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 9 137742013 137742013 C G SNP MIR3689B ENST00000581772 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR3689B HGNC ENSG00000264163 tier1 rs71483239 - 41 0 0.00 25 7 21.88 0 0 0.00 1 0 0.00 RCVRN 0 genome.wustl.edu 37 17 9801316 9801317 + R INS - - GTGTGTGC TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 17 9801316 9801317 - GTGTGTGC INS RCVRN ENST00000570909 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.000 - - - no_errors RCVRN HGNC ENSG00000109047 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 CYP2S1 0 genome.wustl.edu 37 19 41712320 41712320 + Frame_Shift_Del DEL T T - TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef3ebd13-0657-488a-b94a-c92dcb425306 2acedeb3-0a0d-4d72-b763-176d68e55d0e 19 41712320 41712320 T - DEL CYP2S1 ENST00000310054 human ensembl 74_37 +1 known frame_shift_del c.1442 p.F482fs 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B - no_errors CYP2S1 HGNC ENSG00000167600 tier1 24 0 0.00 19 2 9.52 76 0 0.00 87 2 2.25