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 title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF PRAMEF10 0 genome.wustl.edu 37 1 12954419 12954419 + Silent SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 1 12954419 12954419 G A SNP PRAMEF10 ENST00000235347 human ensembl 74_37 -1 known silent c.864 p.L288 0.620 NULL NULL - no_errors PRAMEF10 HGNC ENSG00000187545 114 0 0 71 32 31.068 FLG 0 genome.wustl.edu 37 1 152280076 152280076 + Missense_Mutation SNP C C T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 1 152280076 152280076 C T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.7286 p.G2429E 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 540 0 0 421 153 26.6551 FLG 0 genome.wustl.edu 37 1 152281163 152281163 + Missense_Mutation SNP G G T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 1 152281163 152281163 G T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.6199 p.P2067T 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 513 1 0.194553 583 60 9.33126 DARC 0 genome.wustl.edu 37 1 159175316 159175316 + Silent SNP C C A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 1 159175316 159175316 C A SNP DARC ENST00000368121 human ensembl 74_37 +1 known silent c.93 p.S31 0.000 NULL prints_Duffy_chemokine_rcpt - no_errors DARC HGNC ENSG00000213088 119 0 0 74 34 31.4815 KIAA1614 0 genome.wustl.edu 37 1 180885845 180885845 + Silent SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 1 180885845 180885845 G A SNP KIAA1614 ENST00000367588 human ensembl 74_37 +1 known silent c.606 p.L202 0.000 NULL NULL - no_errors KIAA1614 HGNC ENSG00000135835 196 1 0.507614 139 53 27.6042 NT5C2 0 genome.wustl.edu 37 10 104859733 104859733 + Missense_Mutation SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 10 104859733 104859733 G A SNP NT5C2 ENST00000343289 human ensembl 74_37 -1 known missense c.583 p.R195W 1.000 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5C2 HGNC ENSG00000076685 210 0 0 212 56 20.8955 TCERG1L 0 genome.wustl.edu 37 10 132944909 132944909 + Missense_Mutation SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 10 132944909 132944909 G A SNP TCERG1L ENST00000368642 human ensembl 74_37 -1 known missense c.1049 p.T350M 1.000 pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1L HGNC ENSG00000176769 75 0 0 73 15 17.0455 YME1L1 0 genome.wustl.edu 37 10 27400956 27400956 + Missense_Mutation SNP C C G TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 10 27400956 27400956 C G SNP YME1L1 ENST00000326799 human ensembl 74_37 -1 known missense c.2272 p.A758P 1.000 pfam_Peptidase_M41,tigrfam_FtsH pfam_Peptidase_M41,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH - no_errors YME1L1 HGNC ENSG00000136758 217 0 0 131 33 20.122 CWF19L2 0 genome.wustl.edu 37 11 107299860 107299860 + Silent SNP A A G TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 11 107299860 107299860 A G SNP CWF19L2 ENST00000282251 human ensembl 74_37 -1 known silent c.1098 p.A366 0.146 NULL pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L2 HGNC ENSG00000152404 190 0 0 136 34 20 SIDT2 0 genome.wustl.edu 37 11 117059426 117059426 + Missense_Mutation SNP C C T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 11 117059426 117059426 C T SNP SIDT2 ENST00000278951 human ensembl 74_37 +1 known missense c.1225 p.R409C 1.000 NULL NULL - no_errors SIDT2 HGNC ENSG00000149577 83 0 0 75 5 6.25 OR4S1 0 genome.wustl.edu 37 11 48328184 48328184 + Missense_Mutation SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 11 48328184 48328184 G A SNP OR4S1 ENST00000319988 human ensembl 74_37 +1 known missense c.410 p.R137Q 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4S1 HGNC ENSG00000176555 163 0 0 124 28 18.4211 KDM4D 0 genome.wustl.edu 37 11 94731792 94731792 + Missense_Mutation SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 11 94731792 94731792 G A SNP KDM4D ENST00000335080 human ensembl 74_37 +1 known missense c.1256 p.R419Q 0.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4D HGNC ENSG00000186280 119 1 0.833333 129 7 5.14706 TDG 0 genome.wustl.edu 37 12 104378526 104378526 + Splice_Site SNP G G T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 12 104378526 104378526 G T SNP TDG ENST00000392872 human ensembl 74_37 +1 known splice_site c.793-1 e8-1 1.000 - - - no_errors TDG HGNC ENSG00000139372 93 0 0 82 5 5.74713 CUX2 0 genome.wustl.edu 37 12 111785892 111785892 + Missense_Mutation SNP G G T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 12 111785892 111785892 G T SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known missense c.4224 p.M1408I 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 84 0 0 77 5 6.09756 PDZRN4 0 genome.wustl.edu 37 12 41967067 41967067 + Missense_Mutation SNP A A T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 12 41967067 41967067 A T SNP PDZRN4 ENST00000402685 human ensembl 74_37 +1 known missense c.2486 p.Y829F 1.000 NULL pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 274 0 0 278 27 8.85246 TESPA1 0 genome.wustl.edu 37 12 55356738 55356738 + Missense_Mutation SNP A A C TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 12 55356738 55356738 A C SNP TESPA1 ENST00000316577 human ensembl 74_37 -1 known missense c.944 p.V315G 1.000 NULL NULL - no_errors TESPA1 HGNC ENSG00000135426 87 0 0 60 25 29.4118 TBC1D4 0 genome.wustl.edu 37 13 75923398 75923398 + Missense_Mutation SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 13 75923398 75923398 G A SNP TBC1D4 ENST00000377636 human ensembl 74_37 -1 known missense c.1316 p.T439M 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 95 0 0 88 8 8.33333 DLK1 0 genome.wustl.edu 37 14 101193435 101193435 + Silent SNP C C T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 14 101193435 101193435 C T SNP DLK1 ENST00000341267 human ensembl 74_37 +1 known silent c.30 p.V10 1.000 NULL pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DLK1 HGNC ENSG00000185559 9 0 0 11 6 35.2941 TTLL5 0 genome.wustl.edu 37 14 76245989 76245989 + Missense_Mutation SNP C C A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 14 76245989 76245989 C A SNP TTLL5 ENST00000298832 human ensembl 74_37 +1 known missense c.2459 p.T820N 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL5 HGNC ENSG00000119685 157 0 0 105 23 17.9688 OTUD7A 0 genome.wustl.edu 37 15 31776401 31776401 + Missense_Mutation SNP C C A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 15 31776401 31776401 C A SNP OTUD7A ENST00000382902 human ensembl 74_37 -1 known missense c.1898 p.R633L 1.000 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7A HGNC ENSG00000169918 21 0 0 17 3 15 TTBK2 0 genome.wustl.edu 37 15 43067923 43067923 + Splice_Site SNP T T C TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 15 43067923 43067923 T C SNP TTBK2 ENST00000267890 human ensembl 74_37 -1 known splice_site c.1410-2 e12-2 1.000 - - - no_errors TTBK2 HGNC ENSG00000128881 98 0 0 62 30 32.6087 FBN1 0 genome.wustl.edu 37 15 48788332 48788332 + Missense_Mutation SNP C C T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 15 48788332 48788332 C T SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.2384 p.G795E 1.000 pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 142 0 0 173 11 5.97826 ERN2 0 genome.wustl.edu 37 16 23706580 23706580 + Missense_Mutation SNP C C T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 16 23706580 23706580 C T SNP ERN2 ENST00000256797 human ensembl 74_37 -1 known missense c.1885 p.E629K 1.000 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_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom - no_errors ERN2 HGNC ENSG00000134398 74 0 0 58 13 18.3099 PPL 0 genome.wustl.edu 37 16 4934484 4934484 + Missense_Mutation SNP C C T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 16 4934484 4934484 C T SNP PPL ENST00000345988 human ensembl 74_37 -1 known missense c.4172 p.R1391Q 0.123 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 152 0 0 81 46 36.2205 FBXO47 0 genome.wustl.edu 37 17 37107867 37107867 + Missense_Mutation SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 17 37107867 37107867 G A SNP FBXO47 ENST00000378079 human ensembl 74_37 -1 known missense c.583 p.R195C 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO47 HGNC ENSG00000204952 113 0 0 95 55 36.6667 LINC00482 0 genome.wustl.edu 37 17 79278703 79278703 + RNA SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 17 79278703 79278703 G A SNP LINC00482 ENST00000332012 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00482 HGNC ENSG00000185168 11 0 0 11 3 21.4286 SERPINB8 0 genome.wustl.edu 37 18 61649024 61649024 + Nonsense_Mutation SNP G G T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 18 61649024 61649024 G T SNP SERPINB8 ENST00000353706 human ensembl 74_37 +1 known nonsense c.376 p.E126* 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB8 HGNC ENSG00000166401 286 0 0 195 85 30.3571 DPF1 0 genome.wustl.edu 37 19 38709248 38709248 + Missense_Mutation SNP C C T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 19 38709248 38709248 C T SNP DPF1 ENST00000355526 human ensembl 74_37 -1 known missense c.562 p.D188N 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_C2H2-like,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2 - no_errors DPF1 HGNC ENSG00000011332 142 0 0 76 61 44.5255 TRPM4 0 genome.wustl.edu 37 19 49671854 49671854 + Missense_Mutation SNP C C T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 19 49671854 49671854 C T SNP TRPM4 ENST00000598502 human ensembl 74_37 +1 known missense c.476 p.T159M 0.000 NULL NULL - no_errors TRPM4 HGNC ENSG00000130529 89 0 0 48 3 5.88235 LRP1B 0 genome.wustl.edu 37 2 141283892 141283892 + Missense_Mutation SNP C C T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 2 141283892 141283892 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.7790 p.R2597H 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 90 0 0 72 15 17.2414 SCN9A 0 genome.wustl.edu 37 2 167055546 167055546 + Missense_Mutation SNP A A C TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 2 167055546 167055546 A C SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.5606 p.M1869R 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 242 0 0 200 16 7.40741 TTN 0 genome.wustl.edu 37 2 179654210 179654210 + Silent SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 2 179654210 179654210 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.1953 p.A651 0.999 pfam_Titin_Z,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 167 0 0 119 50 29.5858 SP110 0 genome.wustl.edu 37 2 231067427 231067427 + Missense_Mutation SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 2 231067427 231067427 G A SNP SP110 ENST00000258381 human ensembl 74_37 -1 known missense c.916 p.H306Y 0.000 NULL pfam_Sp100,pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP110 HGNC ENSG00000135899 301 0 0 252 91 26.5306 FSHR 0 genome.wustl.edu 37 2 49295370 49295370 + Missense_Mutation SNP T T C TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 2 49295370 49295370 T C SNP FSHR ENST00000406846 human ensembl 74_37 -1 known missense c.212 p.D71G 1.000 prints_FSH_rcpt,prints_TSH_rcpt pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 183 1 0.543478 151 10 6.21118 CCDC85A 0 genome.wustl.edu 37 2 56420153 56420153 + Missense_Mutation SNP C C G TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 2 56420153 56420153 C G SNP CCDC85A ENST00000407595 human ensembl 74_37 +1 known missense c.818 p.A273G 0.985 NULL pfam_DUF2216_coiled-coil - no_errors CCDC85A HGNC ENSG00000055813 80 0 0 50 9 15.2542 UBE2V1 0 genome.wustl.edu 37 20 48732031 48732031 + Missense_Mutation SNP G G T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 20 48732031 48732031 G T SNP UBE2V1 ENST00000340309 human ensembl 74_37 -1 known missense c.82 p.H28N 0.001 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2V1 HGNC ENSG00000244687 69 0 0 147 14 8.69565 TSHZ2 0 genome.wustl.edu 37 20 51872060 51872060 + Missense_Mutation SNP C C A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 20 51872060 51872060 C A SNP TSHZ2 ENST00000371497 human ensembl 74_37 +1 known missense c.2063 p.A688D 0.819 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 55 0 0 136 10 6.84932 TIAM1 0 genome.wustl.edu 37 21 32617948 32617948 + Silent SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 21 32617948 32617948 G A SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known silent c.1440 p.D480 0.300 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 60 0 0 27 13 32.5 TTC3 0 genome.wustl.edu 37 21 38538093 38538093 + Missense_Mutation SNP G G C TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 21 38538093 38538093 G C SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known missense c.3577 p.E1193Q 0.383 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 222 0 0 210 23 9.87124 GTPBP1 0 genome.wustl.edu 37 22 39122390 39122390 + Missense_Mutation SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 22 39122390 39122390 G A SNP GTPBP1 ENST00000216044 human ensembl 74_37 +1 known missense c.1346 p.R449H 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel - no_errors GTPBP1 HGNC ENSG00000100226 86 0 0 57 3 5 SLC15A2 0 genome.wustl.edu 37 3 121648191 121648191 + Missense_Mutation SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 3 121648191 121648191 G A SNP SLC15A2 ENST00000489711 human ensembl 74_37 +1 known missense c.1549 p.V517M 0.000 tigrfam_Oligopep_transport pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport - no_errors SLC15A2 HGNC ENSG00000163406 144 0 0 147 19 11.4458 NAALADL2 0 genome.wustl.edu 37 3 175473204 175473204 + Silent SNP T T C TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 3 175473204 175473204 T C SNP NAALADL2 ENST00000454872 human ensembl 74_37 +1 known silent c.2187 p.Y729 0.996 superfamily_TFR-like_dimer_dom superfamily_TFR-like_dimer_dom - no_errors NAALADL2 HGNC ENSG00000177694 18 0 0 20 6 23.0769 CACNA2D3 0 genome.wustl.edu 37 3 55107475 55107475 + Silent SNP C C G TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 3 55107475 55107475 C G SNP CACNA2D3 ENST00000288197 human ensembl 74_37 +1 known silent c.2991 p.S997 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 96 0 0 69 24 25.8065 UBE2D3 0 genome.wustl.edu 37 4 103747782 103747782 + RNA SNP A A T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 4 103747782 103747782 A T SNP UBE2D3 ENST00000513098 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors UBE2D3 HGNC ENSG00000109332 60 0 0 35 6 14.6341 PDHA2 0 genome.wustl.edu 37 4 96761832 96761832 + Silent SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 4 96761832 96761832 G A SNP PDHA2 ENST00000295266 human ensembl 74_37 +1 known silent c.531 p.L177 1.000 pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA2 HGNC ENSG00000163114 128 0 0 99 13 11.6071 EPB41L4A 0 genome.wustl.edu 37 5 111601943 111601943 + Silent SNP C C T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 5 111601943 111601943 C T SNP EPB41L4A ENST00000261486 human ensembl 74_37 -1 known silent c.420 p.A140 0.002 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4A HGNC ENSG00000129595 24 0 0 22 23 51.1111 AFF4 0 genome.wustl.edu 37 5 132272875 132272875 + Missense_Mutation SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 5 132272875 132272875 G A SNP AFF4 ENST00000265343 human ensembl 74_37 -1 known missense c.7 p.R3C 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF4 HGNC ENSG00000072364 74 0 0 68 15 18.0723 NR3C1 0 genome.wustl.edu 37 5 142689712 142689712 + Missense_Mutation SNP C C A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 5 142689712 142689712 C A SNP NR3C1 ENST00000231509 human ensembl 74_37 -1 known missense c.1421 p.C474F 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Glcrtcd_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Glcrtcd_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR3C1 HGNC ENSG00000113580 112 0 0 111 14 11.2 SAP30L 0 genome.wustl.edu 37 5 153833058 153833058 + Missense_Mutation SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 5 153833058 153833058 G A SNP SAP30L ENST00000297109 human ensembl 74_37 +1 known missense c.421 p.E141K 1.000 NULL NULL - no_errors SAP30L HGNC ENSG00000164576 105 0 0 63 24 27.5862 FBXW11 0 genome.wustl.edu 37 5 171305130 171305130 + Missense_Mutation SNP A A G TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 5 171305130 171305130 A G SNP FBXW11 ENST00000265094 human ensembl 74_37 -1 known missense c.793 p.W265R 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW11 HGNC ENSG00000072803 101 0 0 64 17 20.9877 CRHBP 0 genome.wustl.edu 37 5 76249963 76249963 + Silent SNP C C T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 5 76249963 76249963 C T SNP CRHBP ENST00000274368 human ensembl 74_37 +1 known silent c.285 p.I95 0.974 pfam_CRF-bd,superfamily_CUB_dom,pirsf_CRF-bd pfam_CRF-bd,superfamily_CUB_dom,pirsf_CRF-bd - no_errors CRHBP HGNC ENSG00000145708 67 0 0 154 27 14.9171 MSH5 0 genome.wustl.edu 37 6 31729612 31729612 + Silent SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 6 31729612 31729612 G A SNP MSH5 ENST00000375742 human ensembl 74_37 +1 known silent c.2250 p.E750 1.000 pfam_DNA_mismatch_repair_MutS_C,superfamily_P-loop_NTPase,smart_DNA_mismatch_repair_MutS_C pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH5 HGNC ENSG00000204410 386 1 0.258398 439 37 7.77311 PTPRZ1 0 genome.wustl.edu 37 7 121608163 121608163 + Missense_Mutation SNP A A C TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 7 121608163 121608163 A C SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.283 p.I95L 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 228 0 0 179 11 5.78947 MAGI2 0 genome.wustl.edu 37 7 77998505 77998505 + Silent SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 7 77998505 77998505 G A SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known silent c.1071 p.I357 1.000 pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI2 HGNC ENSG00000187391 73 0 0 39 18 31.5789 KRIT1 0 genome.wustl.edu 37 7 91864762 91864762 + Silent SNP A A G TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 7 91864762 91864762 A G SNP KRIT1 ENST00000340022 human ensembl 74_37 -1 known silent c.684 p.C228 1.000 NULL pfam_FERM_central,superfamily_Ankyrin_rpt-contain_dom,superfamily_FERM_central,smart_Ankyrin_rpt,smart_Band_41_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_FERM_domain - no_errors KRIT1 HGNC ENSG00000001631 217 0 0 185 17 8.41584 PILRB 0 genome.wustl.edu 37 7 99956991 99956991 + Nonsense_Mutation SNP C C T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 7 99956991 99956991 C T SNP PILRB ENST00000448382 human ensembl 74_37 +1 known nonsense c.643 p.Q215* 0.028 NULL NULL - no_errors PILRB HGNC ENSG00000121716 104 0 0 82 6 6.81818 PINX1 0 genome.wustl.edu 37 8 10623284 10623284 + Missense_Mutation SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 8 10623284 10623284 G A SNP PINX1 ENST00000314787 human ensembl 74_37 -1 known missense c.614 p.T205M 0.004 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors PINX1 HGNC ENSG00000254093 425 0 0 333 20 5.66572 TRPS1 0 genome.wustl.edu 37 8 116426974 116426974 + Missense_Mutation SNP A A C TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 8 116426974 116426974 A C SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.3162 p.S1054R 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 240 1 0.414938 264 17 6.04982 PNPLA7 0 genome.wustl.edu 37 9 140437210 140437210 + Missense_Mutation SNP T T G TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 9 140437210 140437210 T G SNP PNPLA7 ENST00000406427 human ensembl 74_37 -1 known missense c.550 p.K184Q 1.000 superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom 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 PNPLA7 HGNC ENSG00000130653 101 0 0 83 6 6.74157 PTPRD 0 genome.wustl.edu 37 9 8518230 8518230 + Silent SNP C C T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 9 8518230 8518230 C T SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known silent c.1161 p.S387 0.032 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 298 0 0 202 43 17.551 SEPT6 0 genome.wustl.edu 37 X 118767373 118767373 + Missense_Mutation SNP C C T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d X 118767373 118767373 C T SNP SEPT6 ENST00000394617 human ensembl 74_37 -1 known missense c.1129 p.V377I 1.000 pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT6 HGNC ENSG00000125354 308 0 0 188 137 42.1538 GLUD2 0 genome.wustl.edu 37 X 120182259 120182259 + Missense_Mutation SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d X 120182259 120182259 G A SNP GLUD2 ENST00000328078 human ensembl 74_37 +1 known missense c.721 p.A241T 1.000 pfam_Glu/Leu/Phe/Val_DH_dimer_dom pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD2 HGNC ENSG00000182890 134 1 0.740741 91 20 18.018 ASMT 0 genome.wustl.edu 37 X 1743214 1743214 + Silent SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d X 1743214 1743214 G A SNP ASMT ENST00000381241 human ensembl 74_37 +1 known silent c.297 p.P99 0.990 pfam_O_MeTrfase_2,pirsf_COMT pfam_O_MeTrfase_2,pirsf_COMT - no_errors ASMT HGNC ENSG00000196433 285 0 0 129 65 33.5052 HEPH 0 genome.wustl.edu 37 X 65476001 65476001 + Nonsense_Mutation SNP G G T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d X 65476001 65476001 G T SNP HEPH ENST00000519389 human ensembl 74_37 +1 known nonsense c.2887 p.E963* 0.025 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 75 0 0 57 5 8.06452 AR 0 genome.wustl.edu 37 X 66941727 66941727 + Missense_Mutation SNP C C A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d X 66941727 66941727 C A SNP AR ENST00000374690 human ensembl 74_37 +1 known missense c.2371 p.L791I 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 77 0 0 70 4 5.40541 PYGO2 0 genome.wustl.edu 37 1 154932096 154932097 + Frame_Shift_Ins INS - - G TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 1 154932096 154932097 - G INS PYGO2 ENST00000368457 human ensembl 74_37 -1 known frame_shift_ins c.380_379 p.Q127fs 1.000:1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PYGO2 HGNC ENSG00000163348 39 0 0 33 8 19.5122 KIAA0754 0 genome.wustl.edu 37 1 39877376 39877377 + Frame_Shift_Ins INS - - A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 1 39877376 39877377 - A INS KIAA0754 ENST00000530275 human ensembl 74_37 +1 known frame_shift_ins c.1031_1032 p.T345fs 0.099:0.001 NULL NULL - no_errors KIAA0754 HGNC ENSG00000255103 165 0 0 145 57 28.2178 TP53 0 genome.wustl.edu 37 17 7577594 7577595 + Frame_Shift_Del DEL AC AC - TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 17 7577594 7577595 AC - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.687_686 p.C229fs 0.879:0.864 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 65 0 0 26 16 38.0952 SPINK5 0 genome.wustl.edu 37 5 147475439 147475440 + Frame_Shift_Ins INS - - A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d 5 147475439 147475440 - A INS SPINK5 ENST00000359874 human ensembl 74_37 +1 known frame_shift_ins c.853_854 p.T287fs 0.350:0.284 NULL pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK5 HGNC ENSG00000133710 119 0 0 80 18 18.3673