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 SIGLEC6 0 genome.wustl.edu 37 19 52031508 52031508 + Splice_Site SNP C C T TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99dea98b-737e-44b4-a5fb-a73056d907f0 41d65688-6a36-465c-956a-66bfbb244ba2 19 52031508 52031508 C T SNP SIGLEC6 ENST00000425629 human ensembl 74_37 -1 known splice_site c.1013-1 e6-1 0.015 - - - no_errors SIGLEC6 HGNC ENSG00000105492 tier1 - - 53 0 0.00 50 33 39.76 79 0 0.00 50 31 38.27 VPS13B 0 genome.wustl.edu 37 8 100711854 100711854 + Missense_Mutation SNP A A G TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99dea98b-737e-44b4-a5fb-a73056d907f0 41d65688-6a36-465c-956a-66bfbb244ba2 8 100711854 100711854 A G SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.6223 p.S2075G 0.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 tier1 - - 47 0 0.00 34 20 37.04 100 0 0.00 43 35 44.87 PNPLA6 0 genome.wustl.edu 37 19 7622127 7622127 + Silent SNP C C T TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99dea98b-737e-44b4-a5fb-a73056d907f0 41d65688-6a36-465c-956a-66bfbb244ba2 19 7622127 7622127 C T SNP PNPLA6 ENST00000414982 human ensembl 74_37 +1 known silent c.3384 p.D1128 0.970 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC ENSG00000032444 tier1 - - 156 0 0.00 84 78 48.15 25 0 0.00 14 7 33.33 PAIP1 0 genome.wustl.edu 37 5 43535014 43535014 + Missense_Mutation SNP C C G TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99dea98b-737e-44b4-a5fb-a73056d907f0 41d65688-6a36-465c-956a-66bfbb244ba2 5 43535014 43535014 C G SNP PAIP1 ENST00000306846 human ensembl 74_37 -1 known missense c.1138 p.V380L 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Ataxin-2_C,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors PAIP1 HGNC ENSG00000172239 tier1 - - 113 0 0.00 66 50 43.10 115 0 0.00 32 35 52.24 OBSL1 0 genome.wustl.edu 37 2 220435173 220435173 + Missense_Mutation SNP T T C TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99dea98b-737e-44b4-a5fb-a73056d907f0 41d65688-6a36-465c-956a-66bfbb244ba2 2 220435173 220435173 T C SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.782 p.K261R 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 tier1 - - 31 0 0.00 21 24 53.33 25 0 0.00 12 11 47.83 FAM71E2 0 genome.wustl.edu 37 19 55870230 55870230 + Missense_Mutation SNP C C T TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99dea98b-737e-44b4-a5fb-a73056d907f0 41d65688-6a36-465c-956a-66bfbb244ba2 19 55870230 55870230 C T SNP FAM71E2 ENST00000424985 human ensembl 74_37 -1 novel missense c.2006 p.R669Q 0.001 NULL pfam_DUF3699 - no_errors FAM71E2 HGNC ENSG00000180043 tier1 - - 37 0 0.00 34 25 42.37 42 0 0.00 21 19 47.50 GRIN1 0 genome.wustl.edu 37 9 140036529 140036529 + Missense_Mutation SNP C C T TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99dea98b-737e-44b4-a5fb-a73056d907f0 41d65688-6a36-465c-956a-66bfbb244ba2 9 140036529 140036529 C T SNP GRIN1 ENST00000371561 human ensembl 74_37 +1 known missense c.323 p.S108F 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_CaM-bd_C0_NMDA_rcpt_NR1,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN1 HGNC ENSG00000176884 tier1 - - 72 0 0.00 41 24 36.92 112 0 0.00 44 32 42.11 GAB1 0 genome.wustl.edu 37 4 144387374 144387374 + Missense_Mutation SNP G G A TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99dea98b-737e-44b4-a5fb-a73056d907f0 41d65688-6a36-465c-956a-66bfbb244ba2 4 144387374 144387374 G A SNP GAB1 ENST00000262995 human ensembl 74_37 +1 known missense c.2012 p.R671H 0.999 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB1 HGNC ENSG00000109458 tier1 - - 70 0 0.00 44 53 54.08 101 0 0.00 49 43 46.74 IFT172 0 genome.wustl.edu 37 2 27684174 27684174 + Missense_Mutation SNP T T C TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99dea98b-737e-44b4-a5fb-a73056d907f0 41d65688-6a36-465c-956a-66bfbb244ba2 2 27684174 27684174 T C SNP IFT172 ENST00000260570 human ensembl 74_37 -1 known missense c.2404 p.I802V 1.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 tier1 - - 73 0 0.00 40 32 44.44 139 0 0.00 57 41 41.84 SMAD3 0 genome.wustl.edu 37 15 67473711 67473711 + Missense_Mutation SNP C C T TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99dea98b-737e-44b4-a5fb-a73056d907f0 41d65688-6a36-465c-956a-66bfbb244ba2 15 67473711 67473711 C T SNP SMAD3 ENST00000327367 human ensembl 74_37 +1 known missense c.791 p.S264F 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD3 HGNC ENSG00000166949 tier1 - - 66 0 0.00 31 21 40.38 34 0 0.00 17 8 32.00 TG 0 genome.wustl.edu 37 8 134042071 134042071 + Missense_Mutation SNP G G A TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99dea98b-737e-44b4-a5fb-a73056d907f0 41d65688-6a36-465c-956a-66bfbb244ba2 8 134042071 134042071 G A SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.7042 p.G2348R 0.000 pfam_CarbesteraseB,pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 tier1 - - 97 0 0.00 41 42 50.60 167 0 0.00 83 56 40.29 MFSD5 0 genome.wustl.edu 37 12 53647129 53647129 + Silent SNP C C G TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99dea98b-737e-44b4-a5fb-a73056d907f0 41d65688-6a36-465c-956a-66bfbb244ba2 12 53647129 53647129 C G SNP MFSD5 ENST00000534842 human ensembl 74_37 +1 known silent c.831 p.T277 0.988 pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD5 HGNC ENSG00000182544 tier1 - - 42 0 0.00 82 19 18.81 66 0 0.00 59 27 31.40 BAZ2A 0 genome.wustl.edu 37 12 56993005 56993005 + Silent SNP T T G TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99dea98b-737e-44b4-a5fb-a73056d907f0 41d65688-6a36-465c-956a-66bfbb244ba2 12 56993005 56993005 T G SNP BAZ2A ENST00000551812 human ensembl 74_37 -1 known silent c.5316 p.A1772 0.000 superfamily_Bromodomain pfam_Bromodomain,pfam_Methyl_CpG_D-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_D-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_D-bd,smart_AT_hook_D-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_D-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC ENSG00000076108 tier1 - - 47 0 0.00 54 21 28.00 32 0 0.00 32 9 21.95 ATP5O 0 genome.wustl.edu 37 21 35284619 35284619 + Missense_Mutation SNP C C A TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99dea98b-737e-44b4-a5fb-a73056d907f0 41d65688-6a36-465c-956a-66bfbb244ba2 21 35284619 35284619 C A SNP ATP5O ENST00000290299 human ensembl 74_37 -1 known missense c.172 p.V58L 1.000 pfam_ATPase_F1-cplx_OSCP/dsu,superfamily_ATPase_OSCP/delta_N,tigrfam_ATPase_F1-cplx_OSCP/dsu pfam_ATPase_F1-cplx_OSCP/dsu,superfamily_ATPase_OSCP/delta_N,prints_ATPase_F1-cplx_OSCP/dsu,tigrfam_ATPase_F1-cplx_OSCP/dsu - no_errors ATP5O HGNC ENSG00000241837 tier1 - - 76 0 0.00 45 25 35.71 116 0 0.00 58 54 48.21 DZIP3 0 genome.wustl.edu 37 3 108361310 108361310 + Missense_Mutation SNP A A G TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99dea98b-737e-44b4-a5fb-a73056d907f0 41d65688-6a36-465c-956a-66bfbb244ba2 3 108361310 108361310 A G SNP DZIP3 ENST00000361582 human ensembl 74_37 +1 known missense c.1090 p.I364V 0.597 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC ENSG00000198919 tier1 - - 59 0 0.00 31 28 46.67 81 0 0.00 33 31 48.44 SPAG11B 0 genome.wustl.edu 37 8 7320316 7320316 + Missense_Mutation SNP C C A TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99dea98b-737e-44b4-a5fb-a73056d907f0 41d65688-6a36-465c-956a-66bfbb244ba2 8 7320316 7320316 C A SNP SPAG11B ENST00000398462 human ensembl 74_37 -1 known missense c.127 p.A43S 0.000 pfam_Sperm_Ag_HE2 pfam_Sperm_Ag_HE2,pfam_Defensin_beta-typ - no_errors SPAG11B HGNC ENSG00000164871 tier1 - - 86 0 0.00 85 19 18.27 90 0 0.00 67 14 17.28 GPRIN3 0 genome.wustl.edu 37 4 90169766 90169766 + Missense_Mutation SNP G G A TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99dea98b-737e-44b4-a5fb-a73056d907f0 41d65688-6a36-465c-956a-66bfbb244ba2 4 90169766 90169766 G A SNP GPRIN3 ENST00000333209 human ensembl 74_37 -1 known missense c.1496 p.T499M 0.000 NULL NULL - no_errors GPRIN3 HGNC ENSG00000185477 tier1 - - 28 0 0.00 19 19 50.00 131 0 0.00 56 56 50.00 COL19A1 0 genome.wustl.edu 37 6 70637883 70637883 + Missense_Mutation SNP T T C TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99dea98b-737e-44b4-a5fb-a73056d907f0 41d65688-6a36-465c-956a-66bfbb244ba2 6 70637883 70637883 T C SNP COL19A1 ENST00000322773 human ensembl 74_37 +1 known missense c.349 p.W117R 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 tier1 - - 102 1 0.97 91 9 8.82 128 0 0.00 122 15 10.95 PDE3B 0 genome.wustl.edu 37 11 14891131 14891131 + Missense_Mutation SNP A A T TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99dea98b-737e-44b4-a5fb-a73056d907f0 41d65688-6a36-465c-956a-66bfbb244ba2 11 14891131 14891131 A T SNP PDE3B ENST00000282096 human ensembl 74_37 +1 known missense c.3264 p.K1088N 0.998 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3B HGNC ENSG00000152270 tier1 - - 70 0 0.00 36 26 41.94 96 0 0.00 44 21 32.31 SF3B1 0 genome.wustl.edu 37 2 198266834 198266834 + Missense_Mutation SNP T T C TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99dea98b-737e-44b4-a5fb-a73056d907f0 41d65688-6a36-465c-956a-66bfbb244ba2 2 198266834 198266834 T C SNP SF3B1 ENST00000335508 human ensembl 74_37 -1 known missense c.2098 p.K700E 1.000 superfamily_ARM-type_fold pfam_SF3b_su1,superfamily_ARM-type_fold - no_errors SF3B1 HGNC ENSG00000115524 tier1 - - 31 0 0.00 20 13 39.39 71 0 0.00 43 30 41.10 MMGT1 0 genome.wustl.edu 37 X 135047288 135047288 + Silent SNP A A T TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99dea98b-737e-44b4-a5fb-a73056d907f0 41d65688-6a36-465c-956a-66bfbb244ba2 X 135047288 135047288 A T SNP MMGT1 ENST00000433339 human ensembl 74_37 -1 known silent c.486 p.G162 1.000 pfam_Magnesium_transport pfam_Magnesium_transport - no_errors MMGT1 HGNC ENSG00000169446 tier1 - - 35 0 0.00 34 25 42.37 170 0 0.00 71 61 45.86 TMEM255A 0 genome.wustl.edu 37 X 119425116 119425116 + Missense_Mutation SNP G G A TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99dea98b-737e-44b4-a5fb-a73056d907f0 41d65688-6a36-465c-956a-66bfbb244ba2 X 119425116 119425116 G A SNP TMEM255A ENST00000309720 human ensembl 74_37 -1 known missense c.344 p.A115V 1.000 NULL NULL - no_errors TMEM255A HGNC ENSG00000125355 tier1 - - 68 0 0.00 39 26 40.00 156 0 0.00 75 61 44.85 NCOA1 0 genome.wustl.edu 37 2 24985627 24985627 + Silent SNP A A C TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99dea98b-737e-44b4-a5fb-a73056d907f0 41d65688-6a36-465c-956a-66bfbb244ba2 2 24985627 24985627 A C SNP NCOA1 ENST00000348332 human ensembl 74_37 +1 known silent c.4137 p.T1379 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA1 HGNC ENSG00000084676 tier1 - - 42 0 0.00 34 32 48.48 96 0 0.00 43 32 42.67 EXOSC2 0 genome.wustl.edu 37 9 133576449 133576449 + R SNP C C T TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99dea98b-737e-44b4-a5fb-a73056d907f0 41d65688-6a36-465c-956a-66bfbb244ba2 9 133576449 133576449 C T SNP EXOSC2 ENST00000467138 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors EXOSC2 HGNC ENSG00000130713 tier1 - - 19 0 0.00 14 7 33.33 148 1 0.67 90 69 43.12 CREBBP 0 genome.wustl.edu 37 16 3900553 3900553 + Frame_Shift_Del DEL A A - TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99dea98b-737e-44b4-a5fb-a73056d907f0 41d65688-6a36-465c-956a-66bfbb244ba2 16 3900553 3900553 A - DEL CREBBP ENST00000262367 human ensembl 74_37 -1 known frame_shift_del c.543 p.F181fs 0.764 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 tier1 60 0 0.00 44 36 45.00 88 0 0.00 42 30 41.67 A25 0 genome.wustl.edu 37 12 112512476 112512477 + Splice_Site INS - - A TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99dea98b-737e-44b4-a5fb-a73056d907f0 41d65688-6a36-465c-956a-66bfbb244ba2 12 112512476 112512477 - A INS A25 ENST00000261745 human ensembl 74_37 -1 known splice_site_ins c.866+2_866+1 e9+2 1.000:1.000 - - - no_errors A25 HGNC ENSG00000111300 tier1 22 0 0.00 37 9 19.57 91 0 0.00 102 30 22.73 NFE2L3 0 genome.wustl.edu 37 7 26224911 26224914 + Frame_Shift_Del DEL AGAT AGAT - TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 AGAT AGAT AGAT - AGAT AGAT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99dea98b-737e-44b4-a5fb-a73056d907f0 41d65688-6a36-465c-956a-66bfbb244ba2 7 26224911 26224914 AGAT - DEL NFE2L3 ENST00000056233 human ensembl 74_37 +1 known frame_shift_del c.1593_1596 p.D532fs 0.001:0.001:0.000:0.000 NULL pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_D-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L3 HGNC ENSG00000050344 tier1 112 0 0.00 62 25 28.74 74 0 0.00 22 14 38.89 ADCK4 0 genome.wustl.edu 37 19 41208580 41208580 + Missense_Mutation SNP C C G TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99dea98b-737e-44b4-a5fb-a73056d907f0 41d65688-6a36-465c-956a-66bfbb244ba2 19 41208580 41208580 C G SNP ADCK4 ENST00000324464 human ensembl 74_37 -1 known missense c.818 p.S273T 0.937 pfam_UbiB_dom,superfamily_Kinase-like_dom pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK4 HGNC ENSG00000123815 tier1 - - 71 0 0.00 42 33 44.00 18 0 0.00 4 9 69.23 CORO1B 0 genome.wustl.edu 37 11 67209168 67209168 + Frame_Shift_Del DEL G G - TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99dea98b-737e-44b4-a5fb-a73056d907f0 41d65688-6a36-465c-956a-66bfbb244ba2 11 67209168 67209168 G - DEL CORO1B ENST00000545016 human ensembl 74_37 -1 known frame_shift_del c.490 p.H164fs 0.000 NULL pfam_DUF1899,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1B HGNC ENSG00000172725 tier1 43 0 0.00 45 4 8.16 9 0 0.00 7 0 0.00 DCAF12L1 0 genome.wustl.edu 37 X 125686013 125686013 + Missense_Mutation SNP G G T TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99dea98b-737e-44b4-a5fb-a73056d907f0 41d65688-6a36-465c-956a-66bfbb244ba2 X 125686013 125686013 G T SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known missense c.579 p.H193Q 0.994 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 tier1 - - 238 0 0.00 101 92 47.67 9 0 0.00 2 0 0.00 MAP7D1 0 genome.wustl.edu 37 1 36643568 36643568 + Missense_Mutation SNP C C A TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99dea98b-737e-44b4-a5fb-a73056d907f0 41d65688-6a36-465c-956a-66bfbb244ba2 1 36643568 36643568 C A SNP MAP7D1 ENST00000373151 human ensembl 74_37 +1 known missense c.1474 p.P492T 1.000 NULL pfam_MAP7 - no_errors MAP7D1 HGNC ENSG00000116871 tier1 - - 38 0 0.00 23 19 45.24 8 0 0.00 3 1 25.00 PAFAH1B1 0 genome.wustl.edu 37 17 2584923 2584923 + R DEL T T - TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99dea98b-737e-44b4-a5fb-a73056d907f0 41d65688-6a36-465c-956a-66bfbb244ba2 17 2584923 2584923 T - DEL PAFAH1B1 ENST00000574213 human ensembl 74_37 +1 putative rna NULL NULL 0.125 - - - no_errors PAFAH1B1 HGNC ENSG00000007168 tier1 17 0 0.00 14 3 17.65 0 0 0.00 0 0 0.00 ADRM1 0 genome.wustl.edu 37 20 60878005 60878005 + R SNP C C T TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99dea98b-737e-44b4-a5fb-a73056d907f0 41d65688-6a36-465c-956a-66bfbb244ba2 20 60878005 60878005 C T SNP ADRM1 ENST00000491935 human ensembl 74_37 +1 known rna NULL NULL 0.016 - - - no_errors ADRM1 HGNC ENSG00000130706 tier1 - - 26 0 0.00 12 9 37.50 3 0 0.00 1 2 66.67 CHKB-AS1 0 genome.wustl.edu 37 22 51021601 51021601 + R SNP G G A TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99dea98b-737e-44b4-a5fb-a73056d907f0 41d65688-6a36-465c-956a-66bfbb244ba2 22 51021601 51021601 G A SNP CHKB-AS1 ENST00000380711 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CHKB-AS1 HGNC ENSG00000205559 tier1 - - 26 0 0.00 11 6 35.29 4 0 0.00 1 2 66.67 CHKB-AS1 0 genome.wustl.edu 37 22 51021602 51021602 + R SNP C C A TCGA-DX-AB2J-01A-11D-A387-09 TCGA-DX-AB2J-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99dea98b-737e-44b4-a5fb-a73056d907f0 41d65688-6a36-465c-956a-66bfbb244ba2 22 51021602 51021602 C A SNP CHKB-AS1 ENST00000380711 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CHKB-AS1 HGNC ENSG00000205559 tier1 - - 26 0 0.00 11 6 35.29 4 0 0.00 1 2 66.67