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 NPY4R 0 genome.wustl.edu 37 10 47087136 47087136 + Missense_Mutation SNP C C A TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 10 47087136 47087136 C A SNP NPY4R ENST00000374312 human ensembl 74_37 +1 known missense c.353 p.A118D 0.979 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPY4R HGNC ENSG00000204174 tier1 - - 41 0 0.00 33 8 19.51 147 0 0.00 51 8 13.56 RELN 0 genome.wustl.edu 37 7 103183203 103183203 + Nonsense_Mutation SNP G G A TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 7 103183203 103183203 G A SNP RELN ENST00000424685 human ensembl 74_37 -1 known nonsense c.6646 p.R2216* 0.991 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 tier1 - - 58 0 0.00 44 20 31.25 150 1 0.66 98 45 31.47 FGD5 0 genome.wustl.edu 37 3 14960294 14960294 + Missense_Mutation SNP G G T TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 3 14960294 14960294 G T SNP FGD5 ENST00000285046 human ensembl 74_37 +1 known missense c.3523 p.A1175S 0.530 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 tier1 - - 95 0 0.00 35 79 69.30 85 0 0.00 31 59 65.56 ZNF740 0 genome.wustl.edu 37 12 53580211 53580211 + Missense_Mutation SNP G G A TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 12 53580211 53580211 G A SNP ZNF740 ENST00000416904 human ensembl 74_37 +1 known missense c.410 p.R137H 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF740 HGNC ENSG00000139651 tier1 - - 53 0 0.00 56 14 20.00 90 0 0.00 67 9 11.84 INPP5D 0 genome.wustl.edu 37 2 234072418 234072418 + Missense_Mutation SNP G G A TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 2 234072418 234072418 G A SNP INPP5D ENST00000359570 human ensembl 74_37 +1 known missense c.1270 p.D424N 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2 - no_errors INPP5D HGNC ENSG00000168918 tier1 - - 59 0 0.00 70 14 16.67 108 0 0.00 91 25 21.37 CCDC27 0 genome.wustl.edu 37 1 3679935 3679935 + Silent SNP G G A TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 1 3679935 3679935 G A SNP CCDC27 ENST00000294600 human ensembl 74_37 +1 known silent c.1218 p.S406 0.000 NULL superfamily_Prefoldin - no_errors CCDC27 HGNC ENSG00000162592 tier1 rs201495912 GMAF=0.0005 61 0 0.00 78 24 23.53 116 0 0.00 100 17 14.53 TDRD1 0 genome.wustl.edu 37 10 115962849 115962849 + Missense_Mutation SNP G G A TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 10 115962849 115962849 G A SNP TDRD1 ENST00000251864 human ensembl 74_37 +1 known missense c.715 p.V239I 0.262 NULL pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC ENSG00000095627 tier1 - - 66 0 0.00 62 40 39.22 95 0 0.00 59 30 33.71 ZNF645 0 genome.wustl.edu 37 X 22291373 22291373 + Missense_Mutation SNP G G A TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 X 22291373 22291373 G A SNP ZNF645 ENST00000323684 human ensembl 74_37 +1 known missense c.265 p.G89R 0.002 pfscan_Znf_RING pfscan_Znf_RING,pfscan_Znf_C2H2 - no_errors ZNF645 HGNC ENSG00000175809 tier1 - - 68 0 0.00 83 13 13.40 90 0 0.00 97 20 17.09 FAM204A 0 genome.wustl.edu 37 10 120070202 120070202 + R SNP C C G TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 10 120070202 120070202 C G SNP FAM204A ENST00000491416 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors FAM204A HGNC ENSG00000165669 tier1 - - 11 0 0.00 12 4 25.00 26 0 0.00 14 2 12.50 FSCB 0 genome.wustl.edu 37 14 44976108 44976108 + Missense_Mutation SNP G G A TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 14 44976108 44976108 G A SNP FSCB ENST00000340446 human ensembl 74_37 -1 known missense c.83 p.T28I 0.003 NULL NULL - no_errors FSCB HGNC ENSG00000189139 tier1 - - 67 0 0.00 91 26 22.22 117 0 0.00 74 20 21.05 LOC100130331 0 genome.wustl.edu 37 1 238090237 238090237 + R SNP G G T TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 1 238090237 238090237 G T SNP LOC100130331 ENST00000450451 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-193H5.1 Clone_based_vega_gene ENSG00000237250 tier1 - - 17 0 0.00 17 8 32.00 26 0 0.00 14 4 22.22 PRPF31 0 genome.wustl.edu 37 19 54625279 54625279 + Silent SNP C C T TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 19 54625279 54625279 C T SNP PRPF31 ENST00000321030 human ensembl 74_37 +1 known silent c.279 p.I93 0.904 pfam_NOSIC,smart_NOSIC pfam_Nop_dom,pfam_Prp31_C,pfam_NOSIC,smart_NOSIC - no_errors PRPF31 HGNC ENSG00000105618 tier1 - - 29 0 0.00 39 11 22.00 43 0 0.00 60 17 22.08 SCTR 0 genome.wustl.edu 37 2 120209612 120209612 + Missense_Mutation SNP G G A TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 2 120209612 120209612 G A SNP SCTR ENST00000019103 human ensembl 74_37 -1 known missense c.895 p.R299C 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_secretin_rcpt,prints_GPCR_2_VIP_rcpt_1 - no_errors SCTR HGNC ENSG00000080293 tier1 rs144810736 - 41 0 0.00 29 16 35.56 96 0 0.00 60 18 23.08 ANGPTL4 0 genome.wustl.edu 37 19 8430863 8430863 + Missense_Mutation SNP G G A TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 19 8430863 8430863 G A SNP ANGPTL4 ENST00000301455 human ensembl 74_37 +1 known missense c.344 p.R115K 1.000 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL4 HGNC ENSG00000167772 tier1 - - 49 0 0.00 54 42 43.30 116 0 0.00 89 112 55.45 TNFRSF21 0 genome.wustl.edu 37 6 47200704 47200704 + Missense_Mutation SNP C C T TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 6 47200704 47200704 C T SNP TNFRSF21 ENST00000296861 human ensembl 74_37 -1 known missense c.1765 p.V589I 1.000 superfamily_DEATH-like_dom pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_21 - no_errors TNFRSF21 HGNC ENSG00000146072 tier1 - - 40 0 0.00 15 22 59.46 83 0 0.00 14 27 65.85 TRIM64C 0 genome.wustl.edu 37 11 49075541 49075541 + Missense_Mutation SNP C C A TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 11 49075541 49075541 C A SNP TRIM64C ENST00000530230 human ensembl 74_37 -1 known missense c.1069 p.D357Y 0.014 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM64C HGNC ENSG00000214891 tier1 - - 103 1 0.96 62 37 37.37 43 0 0.00 19 13 40.62 ENSG00000231486 0 genome.wustl.edu 37 2 89156778 89156778 + R SNP C C A TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 2 89156778 89156778 C A SNP ENSG00000231486 ENST00000430694 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC096579.7 Clone_based_vega_gene ENSG00000231486 tier1 - - 12 0 0.00 6 6 50.00 51 0 0.00 29 15 34.09 NELL1 0 genome.wustl.edu 37 11 20939733 20939733 + Silent SNP C C T TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 11 20939733 20939733 C T SNP NELL1 ENST00000357134 human ensembl 74_37 +1 known silent c.609 p.I203 0.991 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL1 HGNC ENSG00000165973 tier1 - - 64 0 0.00 45 8 15.09 105 0 0.00 75 11 12.64 ENSG00000255622 0 genome.wustl.edu 37 5 140536443 140536443 + Silent SNP C C A TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 5 140536443 140536443 C A SNP ENSG00000255622 ENST00000539533 human ensembl 74_37 +1 known silent c.867 p.I289 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB17 Uniprot_gn ENSG00000255622 tier1 - - 45 0 0.00 47 24 33.80 110 0 0.00 90 34 27.42 FBN3 0 genome.wustl.edu 37 19 8197971 8197971 + Silent SNP G G A TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 19 8197971 8197971 G A SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known silent c.1611 p.T537 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 tier1 - - 74 0 0.00 76 92 54.76 38 0 0.00 31 20 39.22 IGDCC3 0 genome.wustl.edu 37 15 65621813 65621813 + Missense_Mutation SNP C C T TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 15 65621813 65621813 C T SNP IGDCC3 ENST00000327987 human ensembl 74_37 -1 known missense c.2120 p.R707Q 0.003 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGDCC3 HGNC ENSG00000174498 tier1 - - 70 0 0.00 108 27 20.00 15 0 0.00 23 3 11.54 PASD1 0 genome.wustl.edu 37 X 150840783 150840783 + Missense_Mutation SNP G G C TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 X 150840783 150840783 G C SNP PASD1 ENST00000370357 human ensembl 74_37 +1 known missense c.1566 p.Q522H 0.004 NULL superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PASD1 HGNC ENSG00000166049 tier1 - - 48 0 0.00 26 11 29.73 76 0 0.00 59 18 23.38 COL7A1 0 genome.wustl.edu 37 3 48622990 48622990 + Silent SNP C C T TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 3 48622990 48622990 C T SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known silent c.3894 p.R1298 1.000 pfam_Collagen pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 tier1 - - 57 0 0.00 70 13 15.48 42 0 0.00 50 19 27.54 EVI5L 0 genome.wustl.edu 37 19 7916385 7916385 + Silent SNP G G A TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 19 7916385 7916385 G A SNP EVI5L ENST00000538904 human ensembl 74_37 +1 known silent c.819 p.S273 0.046 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5L HGNC ENSG00000142459 tier1 - - 58 0 0.00 101 42 29.37 107 0 0.00 139 49 26.06 PDE1C 0 genome.wustl.edu 37 7 32109993 32109993 + Missense_Mutation SNP T T C TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 7 32109993 32109993 T C SNP PDE1C ENST00000321453 human ensembl 74_37 -1 known missense c.13 p.T5A 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 tier1 - - 63 0 0.00 110 39 26.17 88 0 0.00 80 31 27.93 ARAP2 0 genome.wustl.edu 37 4 36212251 36212251 + Silent SNP T T G TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 4 36212251 36212251 T G SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known silent c.1248 p.S416 0.988 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 tier1 - - 69 0 0.00 40 10 20.00 126 1 0.79 59 31 34.44 DSCAM 0 genome.wustl.edu 37 21 41496170 41496170 + Silent SNP G G A TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 21 41496170 41496170 G A SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known silent c.3648 p.N1216 0.975 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 tier1 rs201137339 GMAF=0.0005 98 0 0.00 85 26 23.21 130 0 0.00 81 18 18.18 EGFL8 0 genome.wustl.edu 37 6 32134340 32134340 + Missense_Mutation SNP C C T TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 6 32134340 32134340 C T SNP EGFL8 ENST00000333845 human ensembl 74_37 +1 known missense c.167 p.P56L 0.997 pfam_EMI_domain,pfscan_EMI_domain pfam_EMI_domain,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors EGFL8 HGNC ENSG00000241404 tier1 - - 55 0 0.00 27 24 47.06 101 0 0.00 38 56 59.57 SLC12A5 0 genome.wustl.edu 37 20 44669254 44669254 + Splice_Site SNP G G A TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 20 44669254 44669254 G A SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known splice_site c.923+1 e7+1 1.000 - - - no_errors SLC12A5 HGNC ENSG00000124140 tier1 rs142641765 - 20 0 0.00 38 17 30.91 79 0 0.00 65 26 28.57 USH2A 0 genome.wustl.edu 37 1 216500945 216500945 + Missense_Mutation SNP G G T TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 1 216500945 216500945 G T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.836 p.A279E 1.000 superfamily_ConA-like_lec_gl_sf,smart_LamG-like,smart_Laminin_N,pfscan_Laminin_N pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 58 0 0.00 41 22 34.92 139 0 0.00 75 19 20.00 GIMAP8 0 genome.wustl.edu 37 7 150174830 150174830 + Missense_Mutation SNP G G A TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 7 150174830 150174830 G A SNP GIMAP8 ENST00000307271 human ensembl 74_37 +1 known missense c.1960 p.E654K 0.000 pfam_AIG1 pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP8 HGNC ENSG00000171115 tier1 - - 131 0 0.00 124 82 39.61 193 0 0.00 108 99 47.83 OR8D1 0 genome.wustl.edu 37 11 124179847 124179847 + Missense_Mutation SNP C C A TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 11 124179847 124179847 C A SNP OR8D1 ENST00000357821 human ensembl 74_37 -1 known missense c.816 p.K272N 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D1 HGNC ENSG00000196341 tier1 - - 79 0 0.00 46 24 34.29 171 0 0.00 61 28 31.46 ASTN2 0 genome.wustl.edu 37 9 119204815 119204815 + Missense_Mutation SNP A A G TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 9 119204815 119204815 A G SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.3515 p.V1172A 1.000 superfamily_Fibronectin_type3 pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 tier1 - - 47 0 0.00 82 10 10.87 67 0 0.00 67 8 10.67 PTGIR 0 genome.wustl.edu 37 19 47124905 47124905 + Missense_Mutation SNP C C T TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 19 47124905 47124905 C T SNP PTGIR ENST00000291294 human ensembl 74_37 -1 known missense c.793 p.A265T 0.008 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_IP_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_IP_rcpt,prints_Prostanoid_rcpt,prints_Thbox_rcpt - no_errors PTGIR HGNC ENSG00000160013 tier1 rs200508770 - 59 0 0.00 93 13 12.15 73 0 0.00 86 10 10.20 EPOR 0 genome.wustl.edu 37 19 11489388 11489388 + Silent SNP G G A TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 19 11489388 11489388 G A SNP EPOR ENST00000222139 human ensembl 74_37 -1 known silent c.894 p.T298 1.000 pirsf_Erythropoietin_rcpt pirsf_Erythropoietin_rcpt,pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors EPOR HGNC ENSG00000187266 tier1 - - 52 0 0.00 85 22 20.56 98 1 1.01 131 41 23.84 SOX30 0 genome.wustl.edu 37 5 157065660 157065660 + Missense_Mutation SNP C C A TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 5 157065660 157065660 C A SNP SOX30 ENST00000265007 human ensembl 74_37 -1 known missense c.1458 p.Q486H 0.997 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX30 HGNC ENSG00000039600 tier1 - - 41 0 0.00 86 18 17.31 90 0 0.00 99 12 10.81 PGM5 0 genome.wustl.edu 37 9 71080114 71080114 + Missense_Mutation SNP C C A TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 9 71080114 71080114 C A SNP PGM5 ENST00000396396 human ensembl 74_37 +1 known missense c.1149 p.S383R 1.000 pfam_A-D-PHexomutase_a/b/a-III,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 tier1 - - 50 0 0.00 37 22 37.29 103 0 0.00 67 41 37.96 HDAC5 0 genome.wustl.edu 37 17 42158226 42158226 + Missense_Mutation SNP G G C TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 17 42158226 42158226 G C SNP HDAC5 ENST00000225983 human ensembl 74_37 -1 known missense c.2635 p.Q879E 1.000 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC5 HGNC ENSG00000108840 tier1 - - 65 0 0.00 75 15 16.67 95 0 0.00 71 28 28.28 GPR114 0 genome.wustl.edu 37 16 57609003 57609003 + Silent SNP C C T TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 16 57609003 57609003 C T SNP GPR114 ENST00000340339 human ensembl 74_37 +1 known silent c.1485 p.Y495 0.931 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR114 HGNC ENSG00000159618 tier1 - - 40 0 0.00 28 8 22.22 54 0 0.00 40 11 21.57 ZNF12 0 genome.wustl.edu 37 7 6732294 6732294 + Silent SNP C C T TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 7 6732294 6732294 C T SNP ZNF12 ENST00000405858 human ensembl 74_37 -1 known silent c.279 p.Q93 0.000 NULL 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 ZNF12 HGNC ENSG00000164631 tier1 - - 48 0 0.00 78 8 9.30 132 0 0.00 122 22 15.28 TP53 0 genome.wustl.edu 37 17 7577074 7577075 + Frame_Shift_Ins INS - - TTCTC TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 - - - TTCTC - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 17 7577074 7577075 - TTCTC INS TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_ins c.864_863 p.N288fs 0.990:0.994 pfam_p53_D-bd pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 121 0 0.00 68 72 51.43 121 0 0.00 68 72 51.43 LINC00577 0 genome.wustl.edu 37 6 105388066 105388084 + R DEL GTTCGGAATGATGTCCAGG GTTCGGAATGATGTCCAGG - TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 GTTCGGAATGATGTCCAGG GTTCGGAATGATGTCCAGG GTTCGGAATGATGTCCAGG - GTTCGGAATGATGTCCAGG GTTCGGAATGATGTCCAGG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 6 105388066 105388084 GTTCGGAATGATGTCCAGG - DEL LINC00577 ENST00000369123 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.000:0.000:0.005:0.004:0.004:0.005:0.001:0.001:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000 - - - no_errors LINC00577 HGNC ENSG00000203809 tier1 99 0 0.00 45 9 16.67 99 0 0.00 45 9 16.67 PIP5K1B 0 genome.wustl.edu 37 9 71437582 71437583 + Frame_Shift_Ins INS - - A TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 9 71437582 71437583 - A INS PIP5K1B ENST00000478500 human ensembl 74_37 +1 known frame_shift_ins c.52_53 p.T20fs 1.000:1.000 NULL pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1B HGNC ENSG00000107242 tier1 56 0 0.00 51 27 34.62 125 0 0.00 70 28 28.57 ENSG00000259479 0 genome.wustl.edu 37 15 45123755 45123756 + R INS - - C TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 - - - C - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 15 45123755 45123756 - C INS ENSG00000259479 ENST00000561384 human ensembl 74_37 -1 putative rna NULL NULL 0.632:0.983 - - - no_errors CTD-2008A1.2 Clone_based_vega_gene ENSG00000259479 tier1 47 0 0.00 29 5 14.71 11 0 0.00 9 2 18.18 P2RY4 0 genome.wustl.edu 37 X 69479428 69479428 + Missense_Mutation SNP G G T TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 X 69479428 69479428 G T SNP P2RY4 ENST00000374519 human ensembl 74_37 -1 known missense c.47 p.P16Q 0.001 prints_P2Y4_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y4_rcpt,prints_GPCR_Rhodpsn,prints_P2Y2_rcpt - no_errors P2RY4 HGNC ENSG00000186912 tier1 - - 70 0 0.00 124 12 8.82 84 0 0.00 170 18 9.42 PLK1S1 0 genome.wustl.edu 37 20 21142511 21142511 + Splice_Site SNP G G A TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 20 21142511 21142511 G A SNP PLK1S1 ENST00000246027 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.991 - - - no_errors PLK1S1 HGNC ENSG00000088970 tier1 - - 79 0 0.00 77 11 12.50 93 0 0.00 72 8 9.76 TPTE 0 genome.wustl.edu 37 21 11020842 11020842 + R SNP A A T TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 21 11020842 11020842 A T SNP TPTE ENST00000415664 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TPTE HGNC ENSG00000166157 tier1 - - 219 1 0.45 245 22 8.24 107 0 0.00 88 7 7.37 THSD7A 0 genome.wustl.edu 37 7 11633081 11633081 + Silent SNP G G T TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 7 11633081 11633081 G T SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known silent c.1071 p.I357 0.422 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 tier1 - - 23 0 0.00 38 8 17.39 115 0 0.00 114 11 8.80 RHBG 0 genome.wustl.edu 37 1 156354347 156354348 + Frame_Shift_Ins INS - - C TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 - - - C - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 1 156354347 156354348 - C INS RHBG ENST00000400992 human ensembl 74_37 +1 known frame_shift_ins c.1168_1169 p.R393fs 0.006:0.723 superfamily_NH4_transpt_AmtB-like_dom pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHBG HGNC ENSG00000132677 tier1 71 0 0.00 97 21 17.80 114 2 1.72 91 18 16.51 LPIN1 0 genome.wustl.edu 37 2 11955338 11955338 + Missense_Mutation SNP C C T TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 2 11955338 11955338 C T SNP LPIN1 ENST00000449576 human ensembl 74_37 +1 known missense c.2521 p.P841S 1.000 pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2 pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2 - no_errors LPIN1 HGNC ENSG00000134324 tier1 - - 33 0 0.00 32 4 11.11 9 0 0.00 4 0 0.00 ENSG00000215941 0 genome.wustl.edu 37 3 38948824 38948843 + R DEL TGTGTGTGTGTATATATCTA TGTGTGTGTGTATATATCTA - TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 TGTGTGTGTGTATATATCTA TGTGTGTGTGTATATATCTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 3 38948824 38948843 TGTGTGTGTGTATATATCTA - DEL ENSG00000215941 ENST00000401122 human ensembl 74_37 +1 novel rna NULL NULL 0.137:0.126:0.125:0.119:0.107:0.069:0.062:0.049:0.028:0.020:0.007:0.002:0.001:0.001:0.002:0.002:0.002:0.001:0.001:0.001 - - - no_errors AC116038.1 Clone_based_ensembl_gene ENSG00000215941 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 ENSG00000221664 0 genome.wustl.edu 37 1 77857160 77857161 + R INS - - TGTGTA TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 1 77857160 77857161 - TGTGTA INS ENSG00000221664 ENST00000408737 human ensembl 74_37 -1 novel rna NULL NULL 0.993:0.992 - - - no_errors AC095030.1 Clone_based_ensembl_gene ENSG00000221664 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 GALNT6 0 genome.wustl.edu 37 12 51785401 51785402 + R INS - - AGCCGC TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 12 51785401 51785402 - AGCCGC INS GALNT6 ENST00000603203 human ensembl 74_37 -1 known rna NULL NULL 0.021:0.127 - - - no_errors GALNT6 HGNC ENSG00000139629 tier1 0 0 0.00 2 1 33.33 0 0 0.00 2 1 33.33 GOLGA8I 0 genome.wustl.edu 37 15 23259867 23259867 + Missense_Mutation SNP G G T TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 15 23259867 23259867 G T SNP GOLGA8I ENST00000450802 human ensembl 74_37 +1 known missense c.537 p.E179D 0.696 NULL NULL - no_errors GOLGA8I HGNC ENSG00000153666 tier1 - - 111 0 0.00 137 37 21.26 0 0 0.00 0 0 0.00 RGPD3 0 genome.wustl.edu 37 2 107069174 107069174 + Missense_Mutation SNP G G A TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8 784eea3d-4146-483c-baf7-ceb206185ee1 2 107069174 107069174 G A SNP RGPD3 ENST00000304514 human ensembl 74_37 -1 known missense c.614 p.S205L 0.946 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 tier1 - - 27 0 0.00 45 13 22.41 0 0 0.00 0 0 0.00