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 AATF 0 genome.wustl.edu 37 17 35307703 35307703 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 17 35307703 35307703 C T SNP AATF ENST00000225402 human ensembl 74_37 +1 known missense c.281 p.S94F 1.000 NULL pfam_AATF_C - no_errors AATF HGNC ENSG00000108270 tier1 - - 36 0 0.00 38 14 26.92 ABHD17A 0 genome.wustl.edu 37 19 1881418 1881418 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 19 1881418 1881418 C T SNP ABHD17A ENST00000250974 human ensembl 74_37 -1 known missense c.148 p.A50T 0.000 NULL pfam_Dienelactn_hydro - no_errors ABHD17A HGNC ENSG00000129968 tier1 rs200761633 - 49 0 0.00 44 6 12.00 ACPT 0 genome.wustl.edu 37 19 51293714 51293716 + In_Frame_Del DEL CTG CTG - TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 19 51293714 51293716 CTG - DEL ACPT ENST00000270594 human ensembl 74_37 +1 known in_frame_del c.43_45 p.L18in_frame_del 0.109:0.102:0.077 NULL pfam_His_Pase_superF_clade-2 - no_errors ACPT HGNC ENSG00000142513 tier1 16 0 0.00 16 2 11.11 AGA 0 genome.wustl.edu 37 4 178354372 178354372 + Missense_Mutation SNP A A C TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 4 178354372 178354372 A C SNP AGA ENST00000264595 human ensembl 74_37 -1 known missense c.936 p.S312R 0.998 pfam_Peptidase_T2 pfam_Peptidase_T2 - no_errors AGA HGNC ENSG00000038002 tier1 - - 167 0 0.00 183 35 16.06 AKNA 0 genome.wustl.edu 37 9 117139520 117139520 + Silent SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 9 117139520 117139520 G A SNP AKNA ENST00000307564 human ensembl 74_37 -1 known silent c.567 p.V189 0.094 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 tier1 - - 148 0 0.00 131 14 9.66 APC 0 genome.wustl.edu 37 5 112179026 112179026 + Nonsense_Mutation SNP G G T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 5 112179026 112179026 G T SNP APC ENST00000257430 human ensembl 74_37 +1 known nonsense c.7735 p.E2579* 1.000 pfam_APC_basic_dom pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 tier1 - - 94 0 0.00 68 37 35.24 ARSK 0 genome.wustl.edu 37 5 94922272 94922272 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 5 94922272 94922272 C T SNP ARSK ENST00000380009 human ensembl 74_37 +1 known missense c.706 p.H236Y 0.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSK HGNC ENSG00000164291 tier1 - - 57 0 0.00 65 5 6.94 ARSK 0 genome.wustl.edu 37 5 94922283 94922283 + Missense_Mutation SNP C C G TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 5 94922283 94922283 C G SNP ARSK ENST00000380009 human ensembl 74_37 +1 known missense c.717 p.I239M 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSK HGNC ENSG00000164291 tier1 - - 60 0 0.00 78 7 8.24 ARSK 0 genome.wustl.edu 37 5 94922300 94922300 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 5 94922300 94922300 C T SNP ARSK ENST00000380009 human ensembl 74_37 +1 known missense c.734 p.S245L 0.012 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSK HGNC ENSG00000164291 tier1 - - 73 0 0.00 86 8 8.51 ASAH2 0 genome.wustl.edu 37 10 51994237 51994237 + Missense_Mutation SNP T T A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 10 51994237 51994237 T A SNP ASAH2 ENST00000395526 human ensembl 74_37 -1 known missense c.763 p.I255F 0.998 pfam_Ceramidase_alk pfam_Ceramidase_alk - no_errors ASAH2 HGNC ENSG00000188611 tier1 - - 23 0 0.00 12 6 33.33 ASGR2 0 genome.wustl.edu 37 17 7010448 7010448 + Silent SNP G G T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 17 7010448 7010448 G T SNP ASGR2 ENST00000355035 human ensembl 74_37 -1 known silent c.534 p.P178 0.004 superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors ASGR2 HGNC ENSG00000161944 tier1 - - 132 0 0.00 179 11 5.79 ASPH 0 genome.wustl.edu 37 8 62479859 62479859 + Missense_Mutation SNP C C G TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 8 62479859 62479859 C G SNP ASPH ENST00000379454 human ensembl 74_37 -1 known missense c.1168 p.E390Q 1.000 pfscan_TPR-contain_dom pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ASPH HGNC ENSG00000198363 tier1 - - 113 0 0.00 126 13 9.35 ATF7IP2 0 genome.wustl.edu 37 16 10524630 10524630 + Missense_Mutation SNP G G C TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 16 10524630 10524630 G C SNP ATF7IP2 ENST00000356427 human ensembl 74_37 +1 known missense c.153 p.Q51H 0.954 NULL superfamily_Fibronectin_type3 - no_errors ATF7IP2 HGNC ENSG00000166669 tier1 - - 41 0 0.00 52 26 33.33 ATF7IP2 0 genome.wustl.edu 37 16 10525117 10525117 + Missense_Mutation SNP C C G TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 16 10525117 10525117 C G SNP ATF7IP2 ENST00000356427 human ensembl 74_37 +1 known missense c.640 p.Q214E 0.012 NULL superfamily_Fibronectin_type3 - no_errors ATF7IP2 HGNC ENSG00000166669 tier1 - - 72 0 0.00 59 20 25.32 ATP11B 0 genome.wustl.edu 37 3 182597335 182597335 + Missense_Mutation SNP C C A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 3 182597335 182597335 C A SNP ATP11B ENST00000323116 human ensembl 74_37 +1 known missense c.2304 p.S768R 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11B HGNC ENSG00000058063 tier1 - - 67 0 0.00 92 7 7.07 B3GALNT2 0 genome.wustl.edu 37 1 235613579 235613579 + Missense_Mutation SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 1 235613579 235613579 G A SNP B3GALNT2 ENST00000366600 human ensembl 74_37 -1 known missense c.1445 p.T482M 0.000 NULL pfam_Glyco_trans_31 - no_errors B3GALNT2 HGNC ENSG00000162885 tier1 - - 98 0 0.00 111 13 10.48 BAG6 0 genome.wustl.edu 37 6 31608982 31608982 + Missense_Mutation SNP G G C TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 6 31608982 31608982 G C SNP BAG6 ENST00000404765 human ensembl 74_37 -1 known missense c.2686 p.L896V 0.998 NULL pfam_DUF3538,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors BAG6 HGNC ENSG00000204463 tier1 - - 167 0 0.00 215 12 5.29 BCORL1 0 genome.wustl.edu 37 X 129149180 129149180 + Frame_Shift_Del DEL C C - TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac X 129149180 129149180 C - DEL BCORL1 ENST00000303743 human ensembl 74_37 +1 known frame_shift_del c.2432 p.A811fs 0.793 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 tier1 63 0 0.00 50 47 48.45 BRD2 0 genome.wustl.edu 37 6 32947863 32947863 + Missense_Mutation SNP G G T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 6 32947863 32947863 G T SNP BRD2 ENST00000395289 human ensembl 74_37 +1 known missense c.2205 p.E735D 0.999 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD2 HGNC ENSG00000204256 tier1 - - 71 0 0.00 86 19 18.10 CARM1 0 genome.wustl.edu 37 19 11032393 11032393 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 19 11032393 11032393 C T SNP CARM1 ENST00000327064 human ensembl 74_37 +1 known missense c.1787 p.P596L 1.000 NULL pfam_Histone-Arg_MeTrfase_N,pfam_Arg_MeTrfase,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_mo5U34_MeTrfas-like,pfam_Methyltransf_11 - no_errors CARM1 HGNC ENSG00000142453 tier1 - - 212 0 0.00 123 54 30.51 CARS 0 genome.wustl.edu 37 11 3069156 3069156 + Missense_Mutation SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 11 3069156 3069156 G A SNP CARS ENST00000380525 human ensembl 74_37 -1 known missense c.101 p.T34M 1.000 superfamily_Glutathione-S-Trfase_C-like pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase - no_errors CARS HGNC ENSG00000110619 tier1 - - 49 0 0.00 59 5 7.81 CCDC116 0 genome.wustl.edu 37 22 21989386 21989386 + Missense_Mutation SNP A A G TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 22 21989386 21989386 A G SNP CCDC116 ENST00000292779 human ensembl 74_37 +1 known missense c.1034 p.D345G 0.000 NULL NULL - no_errors CCDC116 HGNC ENSG00000161180 tier1 - - 71 0 0.00 57 19 25.00 CD1C 0 genome.wustl.edu 37 1 158262648 158262648 + Missense_Mutation SNP C C A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 1 158262648 158262648 C A SNP CD1C ENST00000368170 human ensembl 74_37 +1 known missense c.873 p.D291E 0.014 NULL pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1C HGNC ENSG00000158481 tier1 - - 38 0 0.00 72 22 23.40 CDC5L 0 genome.wustl.edu 37 6 44374102 44374103 + Frame_Shift_Ins INS - - A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 6 44374102 44374103 - A INS CDC5L ENST00000371477 human ensembl 74_37 +1 known frame_shift_ins c.801_802 p.R268fs 1.000:1.000 NULL pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors CDC5L HGNC ENSG00000096401 tier1 53 0 0.00 77 13 14.44 CNTFR 0 genome.wustl.edu 37 9 34556384 34556384 + Missense_Mutation SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 9 34556384 34556384 G A SNP CNTFR ENST00000351266 human ensembl 74_37 -1 known missense c.637 p.R213W 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTFR HGNC ENSG00000122756 tier1 - - 82 0 0.00 76 10 11.63 CNTNAP1 0 genome.wustl.edu 37 17 40843909 40843911 + In_Frame_Del DEL CTT CTT - TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 17 40843909 40843911 CTT - DEL CNTNAP1 ENST00000264638 human ensembl 74_37 +1 known in_frame_del c.2430_2432 p.F811in_frame_del 0.995:1.000:1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 tier1 445 0 0.00 543 84 13.40 CUX2 0 genome.wustl.edu 37 12 111729305 111729305 + Nonsense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 12 111729305 111729305 C T SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known nonsense c.385 p.R129* 0.518 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 tier1 - - 100 0 0.00 80 32 28.57 DAGLA 0 genome.wustl.edu 37 11 61511441 61511441 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 11 61511441 61511441 C T SNP DAGLA ENST00000257215 human ensembl 74_37 +1 known missense c.2609 p.P870L 0.998 NULL pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 tier1 - - 164 0 0.00 173 77 30.80 DIRAS2 0 genome.wustl.edu 37 9 93375739 93375739 + Missense_Mutation SNP T T C TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 9 93375739 93375739 T C SNP DIRAS2 ENST00000375765 human ensembl 74_37 -1 known missense c.371 p.D124G 0.998 pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors DIRAS2 HGNC ENSG00000165023 tier1 - - 116 0 0.00 114 20 14.93 DLG3 0 genome.wustl.edu 37 X 69719108 69719108 + Silent SNP A A G TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac X 69719108 69719108 A G SNP DLG3 ENST00000194900 human ensembl 74_37 +1 known silent c.2049 p.K683 0.998 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG3 HGNC ENSG00000082458 tier1 - - 27 0 0.00 17 22 56.41 DPF3 0 genome.wustl.edu 37 14 73159912 73159912 + Frame_Shift_Del DEL T T - TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 14 73159912 73159912 T - DEL DPF3 ENST00000366353 human ensembl 74_37 -1 known frame_shift_del c.779 p.K260fs 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DPF3 HGNC ENSG00000205683 tier1 60 0 0.00 63 14 18.18 DPM1 0 genome.wustl.edu 37 20 49562398 49562398 + Missense_Mutation SNP C C A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 20 49562398 49562398 C A SNP DPM1 ENST00000371582 human ensembl 74_37 -1 known missense c.358 p.D120Y 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2 - no_errors DPM1 HGNC ENSG00000000419 tier1 - - 57 0 0.00 94 58 38.16 DUOX1 0 genome.wustl.edu 37 15 45439841 45439841 + Missense_Mutation SNP G G T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 15 45439841 45439841 G T SNP DUOX1 ENST00000321429 human ensembl 74_37 +1 known missense c.2533 p.V845L 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 tier1 - - 32 0 0.00 20 5 20.00 EHBP1L1 0 genome.wustl.edu 37 11 65350794 65350794 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 11 65350794 65350794 C T SNP EHBP1L1 ENST00000309295 human ensembl 74_37 +1 known missense c.2651 p.S884L 0.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1L1 HGNC ENSG00000173442 tier1 - - 47 0 0.00 35 35 50.00 EMILIN2 0 genome.wustl.edu 37 18 2892089 2892089 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 18 2892089 2892089 C T SNP EMILIN2 ENST00000254528 human ensembl 74_37 +1 known missense c.1964 p.T655I 0.001 NULL pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN2 HGNC ENSG00000132205 tier1 - - 61 0 0.00 102 10 8.93 ENSG00000205325 0 genome.wustl.edu 37 17 14683200 14683200 + RNA SNP A A G TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 17 14683200 14683200 A G SNP ENSG00000205325 ENST00000379640 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC005863.1 Clone_based_vega_gene ENSG00000205325 tier1 - - 125 0 0.00 105 20 16.00 ENSG00000266999 0 genome.wustl.edu 37 17 34233903 34233903 + RNA SNP G G C TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 17 34233903 34233903 G C SNP ENSG00000266999 ENST00000587132 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors AC015849.16 Clone_based_vega_gene ENSG00000266999 tier1 - - 38 0 0.00 23 19 45.24 ENSG00000272191 0 genome.wustl.edu 37 17 35300494 35300495 + RNA INS - - A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 17 35300494 35300495 - A INS ENSG00000272191 ENST00000607336 human ensembl 74_37 -1 known rna NULL NULL 0.094:0.027 - - - no_errors RP11-445F12.2 Clone_based_vega_gene ENSG00000272191 tier1 11 0 0.00 10 7 41.18 FCRL5 0 genome.wustl.edu 37 1 157504568 157504568 + Missense_Mutation SNP T T C TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 1 157504568 157504568 T C SNP FCRL5 ENST00000356953 human ensembl 74_37 -1 known missense c.1517 p.Q506R 0.001 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL5 HGNC ENSG00000143297 tier1 - - 51 0 0.00 57 6 9.52 FLG2 0 genome.wustl.edu 37 1 152324997 152324997 + Missense_Mutation SNP T T G TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 1 152324997 152324997 T G SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.5265 p.Q1755H 0.968 prints_Filaggrin pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 tier1 - - 299 0 0.00 490 28 5.41 FLJ36000 0 genome.wustl.edu 37 17 21906507 21906507 + RNA SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 17 21906507 21906507 G A SNP FLJ36000 ENST00000581223 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors RP11-744K17.9 Clone_based_vega_gene ENSG00000266795 tier1 - - 17 0 0.00 14 4 22.22 FSCN3 0 genome.wustl.edu 37 7 127235723 127235723 + Silent SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 7 127235723 127235723 C T SNP FSCN3 ENST00000265825 human ensembl 74_37 +1 known silent c.507 p.D169 0.195 superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN3 HGNC ENSG00000106328 tier1 - - 117 0 0.00 94 23 19.66 FUBP1 0 genome.wustl.edu 37 1 78426185 78426185 + RNA DEL A A - TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 1 78426185 78426185 A - DEL FUBP1 ENST00000470287 human ensembl 74_37 -1 known rna NULL NULL 0.567 - - - no_errors FUBP1 HGNC ENSG00000162613 tier1 24 0 0.00 21 3 12.50 GEM 0 genome.wustl.edu 37 8 95272701 95272701 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 8 95272701 95272701 C T SNP GEM ENST00000297596 human ensembl 74_37 -1 known missense c.31 p.G11S 1.000 pirsf_Small_GTPase_GEM/REM/Rad pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors GEM HGNC ENSG00000164949 tier1 - - 41 0 0.00 47 17 26.56 GIMAP1 0 genome.wustl.edu 37 7 150417808 150417808 + Missense_Mutation SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 7 150417808 150417808 G A SNP GIMAP1 ENST00000307194 human ensembl 74_37 +1 known missense c.716 p.R239Q 0.000 NULL pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP1 HGNC ENSG00000213203 9 0 0.00 13 3 18.75 GPATCH8 0 genome.wustl.edu 37 17 42477178 42477178 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 17 42477178 42477178 C T SNP GPATCH8 ENST00000591680 human ensembl 74_37 -1 known missense c.2267 p.R756Q 1.000 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 tier1 - - 70 0 0.00 90 29 24.37 GPR56 0 genome.wustl.edu 37 16 57697363 57697363 + Splice_Site SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 16 57697363 57697363 G A SNP GPR56 ENST00000379696 human ensembl 74_37 +1 known splice_site c.1952-1 e13-1 1.000 - - - no_errors GPR56 HGNC ENSG00000205336 tier1 - - 64 0 0.00 56 26 31.71 GRIP1 0 genome.wustl.edu 37 12 66909423 66909423 + Missense_Mutation SNP T T C TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 12 66909423 66909423 T C SNP GRIP1 ENST00000359742 human ensembl 74_37 -1 known missense c.700 p.I234V 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 tier1 - - 218 0 0.00 264 54 16.98 GTPBP1 0 genome.wustl.edu 37 22 39122319 39122319 + Silent SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 22 39122319 39122319 C T SNP GTPBP1 ENST00000216044 human ensembl 74_37 +1 known silent c.1275 p.D425 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 tier1 - - 55 0 0.00 51 6 10.34 HERC2 0 genome.wustl.edu 37 15 28483903 28483903 + Missense_Mutation SNP C C A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 15 28483903 28483903 C A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.3593 p.G1198V 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 54 0 0.00 52 8 13.33 HNRNPDL 0 genome.wustl.edu 37 4 83349437 83349438 + Frame_Shift_Ins INS - - AC TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 4 83349437 83349438 0 AC INS HNRNPDL ENST00000295470 human ensembl 74_37 -1 known frame_shift_ins c.606_605 p.D203fs 0.946:1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPDL HGNC ENSG00000152795 175 0 0.00 157 16 9.25 HRH4 0 genome.wustl.edu 37 18 22056961 22056961 + Missense_Mutation SNP A A C TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 18 22056961 22056961 A C SNP HRH4 ENST00000256906 human ensembl 74_37 +1 known missense c.608 p.K203T 0.997 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H4_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H4_rcpt,prints_GPCR_Rhodpsn - no_errors HRH4 HGNC ENSG00000134489 tier1 - - 135 0 0.00 175 51 22.47 HYDIN 0 genome.wustl.edu 37 16 71163620 71163620 + Missense_Mutation SNP T T G TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 16 71163620 71163620 T G SNP HYDIN ENST00000448089 human ensembl 74_37 -1 known missense c.1150 p.T384P 0.688 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 - - 28 0 0.00 34 7 17.07 IFIH1 0 genome.wustl.edu 37 2 163130429 163130429 + Missense_Mutation SNP T T C TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 2 163130429 163130429 T C SNP IFIH1 ENST00000263642 human ensembl 74_37 -1 known missense c.2330 p.K777R 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_CARD,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors IFIH1 HGNC ENSG00000115267 tier1 - - 30 0 0.00 52 21 28.77 IL4R 0 genome.wustl.edu 37 16 27374880 27374880 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 16 27374880 27374880 C T SNP IL4R ENST00000170630 human ensembl 74_37 +1 known missense c.2207 p.T736I 0.003 NULL pfam_IL-4_rcpt-alpha_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL4R HGNC ENSG00000077238 tier1 - - 116 0 0.00 117 11 8.59 INTS8 0 genome.wustl.edu 37 8 95888354 95888354 + Missense_Mutation SNP A A C TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 8 95888354 95888354 A C SNP INTS8 ENST00000523731 human ensembl 74_37 +1 known missense c.2741 p.K914T 1.000 NULL NULL - no_errors INTS8 HGNC ENSG00000164941 tier1 - - 80 0 0.00 162 10 5.81 KCNG1 0 genome.wustl.edu 37 20 49620924 49620924 + Silent SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 20 49620924 49620924 G A SNP KCNG1 ENST00000371571 human ensembl 74_37 -1 known silent c.1194 p.I398 0.990 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 tier1 - - 55 0 0.00 79 15 15.96 KIAA2022 0 genome.wustl.edu 37 X 73960055 73960055 + Missense_Mutation SNP T T C TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac X 73960055 73960055 T C SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.4337 p.K1446R 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 tier1 - - 50 0 0.00 40 52 56.52 KLF15 0 genome.wustl.edu 37 3 126071070 126071070 + Silent SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 3 126071070 126071070 C T SNP KLF15 ENST00000296233 human ensembl 74_37 -1 known silent c.696 p.S232 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF15 HGNC ENSG00000163884 tier1 - - 11 0 0.00 9 7 43.75 LAMA5 0 genome.wustl.edu 37 20 60889871 60889871 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 20 60889871 60889871 C T SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.8180 p.R2727Q 0.999 pfam_Laminin_II pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 tier1 - - 279 0 0.00 440 24 5.17 LOC283683 0 genome.wustl.edu 37 15 23108730 23108730 + RNA SNP A A G TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 15 23108730 23108730 A G SNP LOC283683 ENST00000561063 human ensembl 74_37 -1 known rna NULL NULL 0.859 - - - no_errors RP11-566K19.6 Clone_based_vega_gene ENSG00000259344 tier1 rs1056969 - 13 0 0.00 10 4 28.57 LRIG3 0 genome.wustl.edu 37 12 59274368 59274368 + Missense_Mutation SNP A A C TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 12 59274368 59274368 A C SNP LRIG3 ENST00000320743 human ensembl 74_37 -1 known missense c.1796 p.V599G 0.999 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG3 HGNC ENSG00000139263 tier1 - - 41 0 0.00 54 5 8.47 LRRC1 0 genome.wustl.edu 37 6 53785554 53785554 + Missense_Mutation SNP G G C TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 6 53785554 53785554 G C SNP LRRC1 ENST00000370888 human ensembl 74_37 +1 known missense c.1411 p.E471Q 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC1 HGNC ENSG00000137269 tier1 - - 79 0 0.00 58 16 21.62 LRRN1 0 genome.wustl.edu 37 3 3888191 3888191 + Missense_Mutation SNP C C A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 3 3888191 3888191 C A SNP LRRN1 ENST00000319331 human ensembl 74_37 +1 known missense c.1866 p.D622E 0.997 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN1 HGNC ENSG00000175928 tier1 - - 87 0 0.00 92 16 14.81 LRRN3 0 genome.wustl.edu 37 7 110763604 110763604 + Missense_Mutation SNP T T A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 7 110763604 110763604 T A SNP LRRN3 ENST00000308478 human ensembl 74_37 +1 known missense c.776 p.V259D 0.044 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN3 HGNC ENSG00000173114 tier1 - - 58 0 0.00 103 8 7.14 MBOAT7 0 genome.wustl.edu 37 19 54678033 54678033 + Missense_Mutation SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 19 54678033 54678033 G A SNP MBOAT7 ENST00000245615 human ensembl 74_37 -1 known missense c.1124 p.A375V 0.997 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors MBOAT7 HGNC ENSG00000125505 tier1 - - 170 0 0.00 198 27 11.95 ME1 0 genome.wustl.edu 37 6 83933650 83933650 + Silent SNP T T A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 6 83933650 83933650 T A SNP ME1 ENST00000369705 human ensembl 74_37 -1 known silent c.1278 p.G426 0.007 pfam_Malic_NAD-bd,smart_Malic_NAD-bd pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME1 HGNC ENSG00000065833 tier1 - - 54 0 0.00 61 5 7.58 MEF2D 0 genome.wustl.edu 37 1 156437998 156437998 + Silent SNP A A G TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 1 156437998 156437998 A G SNP MEF2D ENST00000348159 human ensembl 74_37 -1 known silent c.1341 p.R447 0.244 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2D HGNC ENSG00000116604 tier1 - - 121 0 0.00 211 16 7.05 MIR663B 0 genome.wustl.edu 37 2 133014557 133014557 + RNA SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 2 133014557 133014557 G A SNP MIR663B ENST00000408361 human ensembl 74_37 -1 known rna NULL NULL 0.067 - - - no_errors MIR663B HGNC ENSG00000221288 tier1 - - 44 0 0.00 57 6 9.52 MORC2 0 genome.wustl.edu 37 22 31345746 31345746 + Silent SNP C C A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 22 31345746 31345746 C A SNP MORC2 ENST00000397641 human ensembl 74_37 -1 known silent c.309 p.G103 0.994 pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Carb-bd_dom,pfscan_Znf_CW - no_errors MORC2 HGNC ENSG00000133422 tier1 - - 158 0 0.00 167 10 5.65 MRC2 0 genome.wustl.edu 37 17 60757798 60757798 + Silent SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 17 60757798 60757798 C T SNP MRC2 ENST00000303375 human ensembl 74_37 +1 known silent c.2457 p.P819 0.031 NULL pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC ENSG00000011028 tier1 - - 169 0 0.00 225 13 5.46 MUC16 0 genome.wustl.edu 37 19 9060140 9060140 + Frame_Shift_Del DEL A A - TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 19 9060140 9060140 A - DEL MUC16 ENST00000397910 human ensembl 74_37 -1 known frame_shift_del c.27306 p.F9102fs 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 102 0 0.00 75 32 29.91 MUC4 0 genome.wustl.edu 37 3 195518251 195518251 + Missense_Mutation SNP T T A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 3 195518251 195518251 T A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.200 p.N67I 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 - - 168 0 0.00 252 25 9.03 MYH10 0 genome.wustl.edu 37 17 8422059 8422059 + Silent SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 17 8422059 8422059 C T SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known silent c.2364 p.K788 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 tier1 - - 75 0 0.00 86 20 18.87 NARS2 0 genome.wustl.edu 37 11 78270607 78270607 + Missense_Mutation SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 11 78270607 78270607 G A SNP NARS2 ENST00000281038 human ensembl 74_37 -1 known missense c.572 p.A191V 1.000 pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Asn-tRNA-ligase pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asn-tRNA-ligase - no_errors NARS2 HGNC ENSG00000137513 tier1 - - 117 0 0.00 128 11 7.91 NDST1 0 genome.wustl.edu 37 5 149900873 149900873 + Silent SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 5 149900873 149900873 C T SNP NDST1 ENST00000261797 human ensembl 74_37 +1 known silent c.57 p.V19 0.992 NULL pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST1 HGNC ENSG00000070614 tier1 - - 155 0 0.00 171 12 6.56 NIPBL 0 genome.wustl.edu 37 5 37016206 37016206 + Silent SNP T T G TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 5 37016206 37016206 T G SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known silent c.4710 p.L1570 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 42 0 0.00 64 4 5.88 NSD1 0 genome.wustl.edu 37 5 176638107 176638107 + Missense_Mutation SNP C C A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 5 176638107 176638107 C A SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known missense c.2707 p.P903T 1.000 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 tier1 - - 77 0 0.00 99 13 11.61 NXPE3 0 genome.wustl.edu 37 3 101535732 101535732 + Missense_Mutation SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 3 101535732 101535732 G A SNP NXPE3 ENST00000273347 human ensembl 74_37 +1 known missense c.1016 p.R339H 1.000 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE3 HGNC ENSG00000144815 tier1 - - 139 0 0.00 138 36 20.57 OPN1SW 0 genome.wustl.edu 37 7 128415116 128415116 + Missense_Mutation SNP G G C TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 7 128415116 128415116 G C SNP OPN1SW ENST00000249389 human ensembl 74_37 -1 known missense c.445 p.H149D 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_blue,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1SW HGNC ENSG00000128617 tier1 - - 71 0 0.00 76 10 11.63 OR5AU1 0 genome.wustl.edu 37 14 21623339 21623339 + Silent SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 14 21623339 21623339 G A SNP OR5AU1 ENST00000304418 human ensembl 74_37 -1 known silent c.846 p.A282 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AU1 HGNC ENSG00000169327 tier1 - - 52 0 0.00 55 10 15.38 OR6B2 0 genome.wustl.edu 37 2 240969025 240969025 + Silent SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 2 240969025 240969025 G A SNP OR6B2 ENST00000402971 human ensembl 74_37 -1 known silent c.822 p.I274 0.390 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6B2 HGNC ENSG00000182083 tier1 - - 84 0 0.00 115 11 8.73 OTUD7B 0 genome.wustl.edu 37 1 149916776 149916776 + Silent SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 1 149916776 149916776 G A SNP OTUD7B ENST00000369135 human ensembl 74_37 -1 known silent c.1512 p.N504 1.000 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7B HGNC ENSG00000163113 tier1 - - 243 0 0.00 314 91 22.47 PCDHA12 0 genome.wustl.edu 37 5 140257079 140257079 + Missense_Mutation SNP G G T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 5 140257079 140257079 G T SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known missense c.2022 p.Q674H 0.163 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 tier1 - - 59 0 0.00 91 19 17.27 PCDHA5 0 genome.wustl.edu 37 5 140202678 140202678 + Missense_Mutation SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 5 140202678 140202678 G A SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known missense c.1318 p.V440M 0.049 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 tier1 - - 195 0 0.00 259 20 7.14 PDE6B 0 genome.wustl.edu 37 4 629696 629696 + Missense_Mutation SNP A A G TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 4 629696 629696 A G SNP PDE6B ENST00000496514 human ensembl 74_37 +1 known missense c.649 p.T217A 0.473 smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC ENSG00000133256 tier1 - - 66 0 0.00 60 9 13.04 PDS5A 0 genome.wustl.edu 37 4 39900144 39900145 + Frame_Shift_Ins INS - - T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 4 39900144 39900145 - T INS PDS5A ENST00000303538 human ensembl 74_37 -1 known frame_shift_ins c.1635_1634 p.N545fs 1.000:1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 tier1 14 0 0.00 12 6 33.33 PDZD8 0 genome.wustl.edu 37 10 119134140 119134140 + Missense_Mutation SNP C C G TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 10 119134140 119134140 C G SNP PDZD8 ENST00000334464 human ensembl 74_37 -1 known missense c.599 p.G200A 1.000 NULL pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PDZD8 HGNC ENSG00000165650 tier1 - - 14 0 0.00 9 5 35.71 PLA2G6 0 genome.wustl.edu 37 22 38565319 38565319 + Missense_Mutation SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 22 38565319 38565319 G A SNP PLA2G6 ENST00000332509 human ensembl 74_37 -1 known missense c.115 p.R39W 0.288 NULL pfam_Ankyrin_rpt,pfam_Patatin/PLipase_A2-rel,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PLA2G6 HGNC ENSG00000184381 tier1 - - 42 0 0.00 34 14 29.17 PTDSS1 0 genome.wustl.edu 37 8 97274448 97274448 + Splice_Site SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 8 97274448 97274448 G A SNP PTDSS1 ENST00000517309 human ensembl 74_37 +1 known splice_site c.179+1 e1+1 1.000 - - - no_errors PTDSS1 HGNC ENSG00000156471 tier1 - - 97 0 0.00 110 37 25.17 PTPN12 0 genome.wustl.edu 37 7 77268032 77268033 + Frame_Shift_Del DEL AG AG - TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 7 77268032 77268033 AG - DEL PTPN12 ENST00000248594 human ensembl 74_37 +1 known frame_shift_del c.2265_2266 p.E756fs 0.989:1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Ptpn_12,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN12 HGNC ENSG00000127947 tier1 125 0 0.00 103 18 14.88 PTPRM 0 genome.wustl.edu 37 18 8379327 8379327 + Missense_Mutation SNP G G T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 18 8379327 8379327 G T SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.3778 p.A1260S 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 tier1 - - 42 0 0.00 82 22 21.15 PTPRZ1 0 genome.wustl.edu 37 7 121623786 121623786 + Silent SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 7 121623786 121623786 C T SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known silent c.687 p.Y229 0.997 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 tier1 - - 133 0 0.00 167 19 10.22 RCVRN 0 genome.wustl.edu 37 17 9801300 9801301 + RNA DEL TG TG - TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 17 9801300 9801301 TG - DEL RCVRN ENST00000570909 human ensembl 74_37 -1 putative rna NULL NULL 0.001:0.002 - - - no_errors RCVRN HGNC ENSG00000109047 tier1 29 0 0.00 25 4 13.79 RFC3 0 genome.wustl.edu 37 13 34398062 34398063 + Frame_Shift_Ins INS - - A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 13 34398062 34398063 - A INS RFC3 ENST00000380071 human ensembl 74_37 +1 known frame_shift_ins c.234_235 p.I81fs 1.000:1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC3 HGNC ENSG00000133119 tier1 14 0 0.00 20 4 16.67 RGS22 0 genome.wustl.edu 37 8 101076146 101076146 + Missense_Mutation SNP C C A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 8 101076146 101076146 C A SNP RGS22 ENST00000360863 human ensembl 74_37 -1 known missense c.850 p.D284Y 0.977 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 tier1 - - 110 0 0.00 164 18 9.89 RRNAD1 0 genome.wustl.edu 37 1 156705475 156705475 + RNA SNP T T C TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 1 156705475 156705475 T C SNP RRNAD1 ENST00000497515 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors RRNAD1 HGNC ENSG00000143303 tier1 - - 72 0 0.00 124 14 10.14 SHQ1 0 genome.wustl.edu 37 3 72861859 72861859 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 3 72861859 72861859 C T SNP SHQ1 ENST00000325599 human ensembl 74_37 -1 known missense c.1023 p.M341I 0.021 pfam_SHQ1 pfam_SHQ1,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors SHQ1 HGNC ENSG00000144736 tier1 - - 129 0 0.00 157 10 5.99 SLC8A3 0 genome.wustl.edu 37 14 70512803 70512803 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 14 70512803 70512803 C T SNP SLC8A3 ENST00000381269 human ensembl 74_37 -1 known missense c.2645 p.R882Q 1.000 pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A3 HGNC ENSG00000100678 tier1 - - 40 0 0.00 50 5 9.09 SNRNP40 0 genome.wustl.edu 37 1 31766006 31766006 + RNA DEL A A - TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 1 31766006 31766006 A - DEL SNRNP40 ENST00000463988 human ensembl 74_37 -1 known rna NULL NULL 0.422 - - - no_errors SNRNP40 HGNC ENSG00000060688 tier1 22 0 0.00 19 4 17.39 SON 0 genome.wustl.edu 37 21 34924956 34924956 + Missense_Mutation SNP A A C TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 21 34924956 34924956 A C SNP SON ENST00000356577 human ensembl 74_37 +1 known missense c.3419 p.Y1140S 0.929 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom - no_errors SON HGNC ENSG00000159140 tier1 - - 175 0 0.00 198 41 17.15 SYCP2L 0 genome.wustl.edu 37 6 10924818 10924818 + Missense_Mutation SNP G G T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 6 10924818 10924818 G T SNP SYCP2L ENST00000283141 human ensembl 74_37 +1 known missense c.1162 p.D388Y 0.977 NULL NULL - no_errors SYCP2L HGNC ENSG00000153157 tier1 - - 63 0 0.00 43 14 24.56 SYNE2 0 genome.wustl.edu 37 14 64520291 64520291 + Silent SNP T T G TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 14 64520291 64520291 T G SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known silent c.9660 p.S3220 0.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 tier1 - - 50 0 0.00 68 14 17.07 TGS1 0 genome.wustl.edu 37 8 56717540 56717540 + Silent SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 8 56717540 56717540 C T SNP TGS1 ENST00000260129 human ensembl 74_37 +1 known silent c.2088 p.D696 0.998 pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TGS1 HGNC ENSG00000137574 tier1 - - 103 0 0.00 114 12 9.52 TIAM2 0 genome.wustl.edu 37 6 155469283 155469283 + Missense_Mutation SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 6 155469283 155469283 G A SNP TIAM2 ENST00000456144 human ensembl 74_37 +1 known missense c.1843 p.V615I 1.000 pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,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 TIAM2 HGNC ENSG00000146426 tier1 - - 183 0 0.00 179 67 27.24 TP53 0 genome.wustl.edu 37 17 7578554 7578554 + Missense_Mutation SNP A A C TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 17 7578554 7578554 A C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.376 p.Y126D 1.000 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 tier1 - - 49 0 0.00 41 20 32.79 TP63 0 genome.wustl.edu 37 3 189526151 189526151 + Missense_Mutation SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 3 189526151 189526151 G A SNP TP63 ENST00000264731 human ensembl 74_37 +1 known missense c.415 p.A139T 1.000 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP63 HGNC ENSG00000073282 tier1 - - 135 0 0.00 111 30 21.28 TPPP 0 genome.wustl.edu 37 5 665401 665401 + Missense_Mutation SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 5 665401 665401 G A SNP TPPP ENST00000360578 human ensembl 74_37 -1 known missense c.476 p.S159L 0.995 pfam_P25-alpha pfam_P25-alpha - no_errors TPPP HGNC ENSG00000171368 tier1 - - 45 0 0.00 19 12 38.71 TPRN 0 genome.wustl.edu 37 9 140093497 140093497 + Missense_Mutation SNP C C A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 9 140093497 140093497 C A SNP TPRN ENST00000409012 human ensembl 74_37 -1 known missense c.1667 p.G556V 1.000 NULL NULL - no_errors TPRN HGNC ENSG00000176058 tier1 - - 111 0 0.00 120 8 6.25 UBXN11 0 genome.wustl.edu 37 1 26608872 26608872 + Missense_Mutation SNP C C G TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 1 26608872 26608872 C G SNP UBXN11 ENST00000374221 human ensembl 74_37 -1 known missense c.1481 p.S494T 0.000 NULL pfam_SEP_domain,superfamily_SEP_domain,pfscan_UBX - no_errors UBXN11 HGNC ENSG00000158062 tier1 - - 54 0 0.00 89 7 7.29 UGT2B28 0 genome.wustl.edu 37 4 70152495 70152495 + Missense_Mutation SNP C C G TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 4 70152495 70152495 C G SNP UGT2B28 ENST00000335568 human ensembl 74_37 +1 known missense c.896 p.S299C 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B28 HGNC ENSG00000135226 tier1 - - 247 0 0.00 265 28 9.56 USP24 0 genome.wustl.edu 37 1 55563749 55563749 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 1 55563749 55563749 C T SNP USP24 ENST00000407756 human ensembl 74_37 -1 known missense c.4982 p.R1661H 1.000 pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 tier1 - - 22 0 0.00 17 11 39.29 USP34 0 genome.wustl.edu 37 2 61570966 61570966 + Missense_Mutation SNP A A T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 2 61570966 61570966 A T SNP USP34 ENST00000398571 human ensembl 74_37 -1 known missense c.2484 p.H828Q 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 tier1 - - 86 0 0.00 82 32 28.07 WDR20 0 genome.wustl.edu 37 14 102675609 102675609 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 14 102675609 102675609 C T SNP WDR20 ENST00000454394 human ensembl 74_37 +1 known missense c.1195 p.R399W 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR20 HGNC ENSG00000140153 tier1 - - 82 0 0.00 89 8 8.25 WRAP53 0 genome.wustl.edu 37 17 7592579 7592579 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 17 7592579 7592579 C T SNP WRAP53 ENST00000316024 human ensembl 74_37 +1 known missense c.469 p.L157F 0.998 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WRAP53 HGNC ENSG00000141499 tier1 - - 94 0 0.00 92 11 10.68 ZCCHC5 0 genome.wustl.edu 37 X 77913459 77913459 + Silent SNP G G T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac X 77913459 77913459 G T SNP ZCCHC5 ENST00000321110 human ensembl 74_37 -1 known silent c.459 p.P153 0.001 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC5 HGNC ENSG00000179300 tier1 - - 35 0 0.00 53 9 14.52 ZCCHC7 0 genome.wustl.edu 37 9 37126557 37126557 + Silent SNP C C A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 9 37126557 37126557 C A SNP ZCCHC7 ENST00000336755 human ensembl 74_37 +1 known silent c.228 p.V76 1.000 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC7 HGNC ENSG00000147905 tier1 - - 260 0 0.00 263 24 8.36 ZFP64 0 genome.wustl.edu 37 20 50704952 50704952 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 20 50704952 50704952 C T SNP ZFP64 ENST00000361387 human ensembl 74_37 -1 known missense c.1207 p.V403I 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 tier1 - - 178 0 0.00 258 69 21.10 ZNF507 0 genome.wustl.edu 37 19 32873807 32873807 + Nonsense_Mutation SNP G G T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 19 32873807 32873807 G T SNP ZNF507 ENST00000311921 human ensembl 74_37 +1 known nonsense c.2680 p.E894* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF507 HGNC ENSG00000168813 tier1 - - 50 0 0.00 123 10 7.52 ZNF507 0 genome.wustl.edu 37 19 32873839 32873839 + Missense_Mutation SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 19 32873839 32873839 G A SNP ZNF507 ENST00000311921 human ensembl 74_37 +1 known missense c.2712 p.M904I 0.999 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF507 HGNC ENSG00000168813 tier1 - - 41 0 0.00 123 13 9.56 ZNF507 0 genome.wustl.edu 37 19 32873909 32873909 + Missense_Mutation SNP G G T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 19 32873909 32873909 G T SNP ZNF507 ENST00000311921 human ensembl 74_37 +1 known missense c.2782 p.D928Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF507 HGNC ENSG00000168813 tier1 - - 45 0 0.00 106 13 10.92 ZNF507 0 genome.wustl.edu 37 19 32873917 32873917 + Missense_Mutation SNP G G T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 19 32873917 32873917 G T SNP ZNF507 ENST00000311921 human ensembl 74_37 +1 known missense c.2790 p.M930I 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF507 HGNC ENSG00000168813 tier1 - - 45 0 0.00 104 15 12.61 ZNF507 0 genome.wustl.edu 37 19 32873897 32873897 + Nonsense_Mutation SNP G G T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 19 32873897 32873897 G T SNP ZNF507 ENST00000311921 human ensembl 74_37 +1 known nonsense c.2770 p.E924* 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF507 HGNC ENSG00000168813 42 0 0.00 105 9 7.89 ZNF697 0 genome.wustl.edu 37 1 120165814 120165814 + Silent SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 1 120165814 120165814 G A SNP ZNF697 ENST00000421812 human ensembl 74_37 -1 known silent c.1152 p.G384 0.963 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF697 HGNC ENSG00000143067 tier1 - - 12 0 0.00 13 10 43.48 ZW10 0 genome.wustl.edu 37 11 113609953 113609953 + Missense_Mutation SNP G G T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 11 113609953 113609953 G T SNP ZW10 ENST00000200135 human ensembl 74_37 -1 known missense c.1735 p.P579T 1.000 pfam_RZZ-complex_Zw10 pfam_RZZ-complex_Zw10 - no_errors ZW10 HGNC ENSG00000086827 tier1 - - 71 0 0.00 70 8 10.26 ZNF697 0 genome.wustl.edu 37 1 120165814 120165814 + Silent SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 1 120165814 120165814 G A SNP ZNF697 ENST00000421812 human ensembl 74_37 -1 known silent c.1152 p.G384 0.963 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF697 HGNC ENSG00000143067 10 0 0 12 8 40 OTUD7B 0 genome.wustl.edu 37 1 149916776 149916776 + Silent SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 1 149916776 149916776 G A SNP OTUD7B ENST00000369135 human ensembl 74_37 -1 known silent c.1512 p.N504 1.000 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7B HGNC ENSG00000163113 218 0 0 279 85 23.3516 FLG2 0 genome.wustl.edu 37 1 152324997 152324997 + Missense_Mutation SNP T T G TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 1 152324997 152324997 T G SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.5265 p.Q1755H 0.968 prints_Filaggrin pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 270 0 0 451 27 5.64854 UBQLN4 0 genome.wustl.edu 37 1 156020264 156020264 + Missense_Mutation SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 1 156020264 156020264 G A SNP UBQLN4 ENST00000368309 human ensembl 74_37 -1 known missense c.559 p.R187W 1.000 NULL pfam_Ubiquitin_dom,pfam_UBA/Ts_N,pfam_Rad60/SUMO_like,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN4 HGNC ENSG00000160803 145 1 0.684932 149 94 38.6831 MEF2D 0 genome.wustl.edu 37 1 156437998 156437998 + Silent SNP A A G TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 1 156437998 156437998 A G SNP MEF2D ENST00000348159 human ensembl 74_37 -1 known silent c.1341 p.R447 0.244 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2D HGNC ENSG00000116604 111 0 0 186 13 6.53266 FCRL5 0 genome.wustl.edu 37 1 157504568 157504568 + Missense_Mutation SNP T T C TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 1 157504568 157504568 T C SNP FCRL5 ENST00000356953 human ensembl 74_37 -1 known missense c.1517 p.Q506R 0.001 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL5 HGNC ENSG00000143297 47 0 0 55 6 9.83607 CD1C 0 genome.wustl.edu 37 1 158262648 158262648 + Missense_Mutation SNP C C A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 1 158262648 158262648 C A SNP CD1C ENST00000368170 human ensembl 74_37 +1 known missense c.873 p.D291E 0.014 NULL pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1C HGNC ENSG00000158481 35 0 0 68 18 20.9302 B3GALNT2 0 genome.wustl.edu 37 1 235613579 235613579 + Missense_Mutation SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 1 235613579 235613579 G A SNP B3GALNT2 ENST00000366600 human ensembl 74_37 -1 known missense c.1445 p.T482M 0.000 NULL pfam_Glyco_trans_31 - no_errors B3GALNT2 HGNC ENSG00000162885 93 0 0 108 11 9.2437 USP24 0 genome.wustl.edu 37 1 55563749 55563749 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 1 55563749 55563749 C T SNP USP24 ENST00000407756 human ensembl 74_37 -1 known missense c.4982 p.R1661H 1.000 pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 20 0 0 17 10 37.037 PDZD8 0 genome.wustl.edu 37 10 119134140 119134140 + Missense_Mutation SNP C C G TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 10 119134140 119134140 C G SNP PDZD8 ENST00000334464 human ensembl 74_37 -1 known missense c.599 p.G200A 1.000 NULL pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PDZD8 HGNC ENSG00000165650 14 0 0 9 4 30.7692 ZW10 0 genome.wustl.edu 37 11 113609953 113609953 + Missense_Mutation SNP G G T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 11 113609953 113609953 G T SNP ZW10 ENST00000200135 human ensembl 74_37 -1 known missense c.1735 p.P579T 1.000 pfam_RZZ-complex_Zw10 pfam_RZZ-complex_Zw10 - no_errors ZW10 HGNC ENSG00000086827 69 0 0 64 8 11.1111 CARS 0 genome.wustl.edu 37 11 3069156 3069156 + Missense_Mutation SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 11 3069156 3069156 G A SNP CARS ENST00000380525 human ensembl 74_37 -1 known missense c.101 p.T34M 1.000 superfamily_Glutathione-S-Trfase_C-like pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase - no_errors CARS HGNC ENSG00000110619 46 0 0 56 5 8.19672 TRIM51HP 0 genome.wustl.edu 37 11 55063024 55063024 + RNA SNP G G T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 11 55063024 55063024 G T SNP TRIM51HP ENST00000526016 human ensembl 74_37 -1 putative rna NULL NULL 0.149 - - - no_errors TRIM51HP HGNC ENSG00000166007 54 0 0 67 7 9.45946 DAGLA 0 genome.wustl.edu 37 11 61511441 61511441 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 11 61511441 61511441 C T SNP DAGLA ENST00000257215 human ensembl 74_37 +1 known missense c.2609 p.P870L 0.998 NULL pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 159 0 0 170 75 30.6122 EHBP1L1 0 genome.wustl.edu 37 11 65350794 65350794 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 11 65350794 65350794 C T SNP EHBP1L1 ENST00000309295 human ensembl 74_37 +1 known missense c.2651 p.S884L 0.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1L1 HGNC ENSG00000173442 43 0 0 32 30 48.3871 NARS2 0 genome.wustl.edu 37 11 78270607 78270607 + Missense_Mutation SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 11 78270607 78270607 G A SNP NARS2 ENST00000281038 human ensembl 74_37 -1 known missense c.572 p.A191V 1.000 pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Asn-tRNA-ligase pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asn-tRNA-ligase - no_errors NARS2 HGNC ENSG00000137513 104 0 0 117 8 6.4 CUX2 0 genome.wustl.edu 37 12 111729305 111729305 + Nonsense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 12 111729305 111729305 C T SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known nonsense c.385 p.R129* 0.518 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 95 0 0 75 32 29.9065 SRRM4 0 genome.wustl.edu 37 12 119594447 119594447 + Missense_Mutation SNP A A C TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 12 119594447 119594447 A C SNP SRRM4 ENST00000267260 human ensembl 74_37 +1 known missense c.1680 p.R560S 0.001 NULL NULL - no_errors SRRM4 HGNC ENSG00000139767 11 0 0 17 5 22.7273 LRIG3 0 genome.wustl.edu 37 12 59274368 59274368 + Missense_Mutation SNP A A C TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 12 59274368 59274368 A C SNP LRIG3 ENST00000320743 human ensembl 74_37 -1 known missense c.1796 p.V599G 0.999 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG3 HGNC ENSG00000139263 40 0 0 50 4 7.40741 GRIP1 0 genome.wustl.edu 37 12 66909423 66909423 + Missense_Mutation SNP T T C TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 12 66909423 66909423 T C SNP GRIP1 ENST00000359742 human ensembl 74_37 -1 known missense c.700 p.I234V 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 194 0 0 232 48 17.1429 WDR20 0 genome.wustl.edu 37 14 102675609 102675609 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 14 102675609 102675609 C T SNP WDR20 ENST00000454394 human ensembl 74_37 +1 known missense c.1195 p.R399W 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR20 HGNC ENSG00000140153 79 0 0 82 8 8.88889 OR5AU1 0 genome.wustl.edu 37 14 21623339 21623339 + Silent SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 14 21623339 21623339 G A SNP OR5AU1 ENST00000304418 human ensembl 74_37 -1 known silent c.846 p.A282 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AU1 HGNC ENSG00000169327 46 0 0 47 10 17.5439 SYNE2 0 genome.wustl.edu 37 14 64520291 64520291 + Silent SNP T T G TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 14 64520291 64520291 T G SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known silent c.9660 p.S3220 0.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 49 0 0 63 13 17.1053 SLC8A3 0 genome.wustl.edu 37 14 70512803 70512803 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 14 70512803 70512803 C T SNP SLC8A3 ENST00000381269 human ensembl 74_37 -1 known missense c.2645 p.R882Q 1.000 pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A3 HGNC ENSG00000100678 34 0 0 46 3 6.12245 DUOX1 0 genome.wustl.edu 37 15 45439841 45439841 + Missense_Mutation SNP G G T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 15 45439841 45439841 G T SNP DUOX1 ENST00000321429 human ensembl 74_37 +1 known missense c.2533 p.V845L 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 29 0 0 17 5 22.7273 LDHAL6B 0 genome.wustl.edu 37 15 59500193 59500193 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 15 59500193 59500193 C T SNP LDHAL6B ENST00000307144 human ensembl 74_37 +1 known missense c.1054 p.L352F 0.001 pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHAL6B HGNC ENSG00000171989 124 0 0 155 24 13.4078 ATF7IP2 0 genome.wustl.edu 37 16 10524630 10524630 + Missense_Mutation SNP G G C TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 16 10524630 10524630 G C SNP ATF7IP2 ENST00000356427 human ensembl 74_37 +1 known missense c.153 p.Q51H 0.954 NULL superfamily_Fibronectin_type3 - no_errors ATF7IP2 HGNC ENSG00000166669 41 0 0 50 26 34.2105 ATF7IP2 0 genome.wustl.edu 37 16 10525117 10525117 + Missense_Mutation SNP C C G TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 16 10525117 10525117 C G SNP ATF7IP2 ENST00000356427 human ensembl 74_37 +1 known missense c.640 p.Q214E 0.012 NULL superfamily_Fibronectin_type3 - no_errors ATF7IP2 HGNC ENSG00000166669 65 0 0 50 19 27.5362 IL4R 0 genome.wustl.edu 37 16 27374880 27374880 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 16 27374880 27374880 C T SNP IL4R ENST00000170630 human ensembl 74_37 +1 known missense c.2207 p.T736I 0.003 NULL pfam_IL-4_rcpt-alpha_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL4R HGNC ENSG00000077238 97 0 0 99 10 9.17431 GPR56 0 genome.wustl.edu 37 16 57697363 57697363 + Splice_Site SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 16 57697363 57697363 G A SNP GPR56 ENST00000379696 human ensembl 74_37 +1 known splice_site c.1952-1 e13-1 1.000 - - - no_errors GPR56 HGNC ENSG00000205336 63 0 0 55 24 30.3797 GNG13 0 genome.wustl.edu 37 16 849007 849007 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 16 849007 849007 C T SNP GNG13 ENST00000248150 human ensembl 74_37 -1 known missense c.71 p.R24Q 1.000 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNG13 HGNC ENSG00000127588 59 0 0 34 24 41.3793 ENSG00000205325 0 genome.wustl.edu 37 17 14683200 14683200 + RNA SNP A A G TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 17 14683200 14683200 A G SNP ENSG00000205325 ENST00000379640 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC005863.1 Clone_based_vega_gene ENSG00000205325 108 0 0 93 17 15.4545 ENSG00000266999 0 genome.wustl.edu 37 17 34233903 34233903 + RNA SNP G G C TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 17 34233903 34233903 G C SNP ENSG00000266999 ENST00000587132 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors AC015849.16 Clone_based_vega_gene ENSG00000266999 36 0 0 22 18 45 AATF 0 genome.wustl.edu 37 17 35307703 35307703 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 17 35307703 35307703 C T SNP AATF ENST00000225402 human ensembl 74_37 +1 known missense c.281 p.S94F 1.000 NULL pfam_AATF_C - no_errors AATF HGNC ENSG00000108270 34 0 0 34 14 29.1667 GPATCH8 0 genome.wustl.edu 37 17 42477178 42477178 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 17 42477178 42477178 C T SNP GPATCH8 ENST00000591680 human ensembl 74_37 -1 known missense c.2267 p.R756Q 1.000 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 68 0 0 86 28 24.5614 MRC2 0 genome.wustl.edu 37 17 60757798 60757798 + Silent SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 17 60757798 60757798 C T SNP MRC2 ENST00000303375 human ensembl 74_37 +1 known silent c.2457 p.P819 0.031 NULL pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC ENSG00000011028 141 0 0 186 13 6.53266 ASGR2 0 genome.wustl.edu 37 17 7010448 7010448 + Silent SNP G G T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 17 7010448 7010448 G T SNP ASGR2 ENST00000355035 human ensembl 74_37 -1 known silent c.534 p.P178 0.004 superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors ASGR2 HGNC ENSG00000161944 110 0 0 150 9 5.66038 TP53 0 genome.wustl.edu 37 17 7578554 7578554 + Missense_Mutation SNP A A C TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 17 7578554 7578554 A C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.376 p.Y126D 1.000 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 45 0 0 40 19 32.2034 WRAP53 0 genome.wustl.edu 37 17 7592579 7592579 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 17 7592579 7592579 C T SNP WRAP53 ENST00000316024 human ensembl 74_37 +1 known missense c.469 p.L157F 0.998 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WRAP53 HGNC ENSG00000141499 80 0 0 77 9 10.4651 MYH10 0 genome.wustl.edu 37 17 8422059 8422059 + Silent SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 17 8422059 8422059 C T SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known silent c.2364 p.K788 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 67 0 0 75 18 19.3548 HRH4 0 genome.wustl.edu 37 18 22056961 22056961 + Missense_Mutation SNP A A C TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 18 22056961 22056961 A C SNP HRH4 ENST00000256906 human ensembl 74_37 +1 known missense c.608 p.K203T 0.997 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H4_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H4_rcpt,prints_GPCR_Rhodpsn - no_errors HRH4 HGNC ENSG00000134489 126 0 0 165 47 22.1698 EMILIN2 0 genome.wustl.edu 37 18 2892089 2892089 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 18 2892089 2892089 C T SNP EMILIN2 ENST00000254528 human ensembl 74_37 +1 known missense c.1964 p.T655I 0.001 NULL pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN2 HGNC ENSG00000132205 59 0 0 98 10 9.25926 PTPRM 0 genome.wustl.edu 37 18 8379327 8379327 + Missense_Mutation SNP G G T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 18 8379327 8379327 G T SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.3778 p.A1260S 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 41 0 0 71 21 22.8261 KEAP1 0 genome.wustl.edu 37 19 10610458 10610458 + Missense_Mutation SNP C C G TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 19 10610458 10610458 C G SNP KEAP1 ENST00000171111 human ensembl 74_37 -1 known missense c.252 p.K84N 0.998 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KEAP1 HGNC ENSG00000079999 63 0 0 63 7 10 CARM1 0 genome.wustl.edu 37 19 11032393 11032393 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 19 11032393 11032393 C T SNP CARM1 ENST00000327064 human ensembl 74_37 +1 known missense c.1787 p.P596L 1.000 NULL pfam_Histone-Arg_MeTrfase_N,pfam_Arg_MeTrfase,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_mo5U34_MeTrfas-like,pfam_Methyltransf_11 - no_errors CARM1 HGNC ENSG00000142453 188 0 0 106 49 31.6129 ZNF507 0 genome.wustl.edu 37 19 32873807 32873807 + Nonsense_Mutation SNP G G T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 19 32873807 32873807 G T SNP ZNF507 ENST00000311921 human ensembl 74_37 +1 known nonsense c.2680 p.E894* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF507 HGNC ENSG00000168813 46 0 0 115 9 7.25806 ZNF507 0 genome.wustl.edu 37 19 32873839 32873839 + Missense_Mutation SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 19 32873839 32873839 G A SNP ZNF507 ENST00000311921 human ensembl 74_37 +1 known missense c.2712 p.M904I 0.999 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF507 HGNC ENSG00000168813 38 0 0 115 13 10.1562 ZNF507 0 genome.wustl.edu 37 19 32873909 32873909 + Missense_Mutation SNP G G T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 19 32873909 32873909 G T SNP ZNF507 ENST00000311921 human ensembl 74_37 +1 known missense c.2782 p.D928Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF507 HGNC ENSG00000168813 42 0 0 98 12 10.9091 ZNF507 0 genome.wustl.edu 37 19 32873917 32873917 + Missense_Mutation SNP G G T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 19 32873917 32873917 G T SNP ZNF507 ENST00000311921 human ensembl 74_37 +1 known missense c.2790 p.M930I 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF507 HGNC ENSG00000168813 41 0 0 96 15 13.5135 ZNF223 0 genome.wustl.edu 37 19 44571260 44571260 + Missense_Mutation SNP C C A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 19 44571260 44571260 C A SNP ZNF223 ENST00000591793 human ensembl 74_37 +1 known missense c.1609 p.P537T 0.003 pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF223 Uniprot_gn ENSG00000267022 124 0 0 138 57 29.2308 GLTSCR2 0 genome.wustl.edu 37 19 48248918 48248918 + Silent SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 19 48248918 48248918 G A SNP GLTSCR2 ENST00000246802 human ensembl 74_37 +1 known silent c.102 p.L34 1.000 pirsf_Gltscr2 pfam_P60-like,pirsf_Gltscr2 - no_errors GLTSCR2 HGNC ENSG00000105373 153 0 0 170 17 9.09091 MBOAT7 0 genome.wustl.edu 37 19 54678033 54678033 + Missense_Mutation SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 19 54678033 54678033 G A SNP MBOAT7 ENST00000245615 human ensembl 74_37 -1 known missense c.1124 p.A375V 0.997 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors MBOAT7 HGNC ENSG00000125505 164 0 0 187 26 12.2066 IFIH1 0 genome.wustl.edu 37 2 163130429 163130429 + Missense_Mutation SNP T T C TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 2 163130429 163130429 T C SNP IFIH1 ENST00000263642 human ensembl 74_37 -1 known missense c.2330 p.K777R 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_CARD,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors IFIH1 HGNC ENSG00000115267 28 0 0 47 21 30.8824 TTN 0 genome.wustl.edu 37 2 179654102 179654102 + Silent SNP T T C TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 2 179654102 179654102 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.2061 p.Q687 0.955 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 100 0 0 103 29 21.9697 OR6B2 0 genome.wustl.edu 37 2 240969025 240969025 + Silent SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 2 240969025 240969025 G A SNP OR6B2 ENST00000402971 human ensembl 74_37 -1 known silent c.822 p.I274 0.390 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6B2 HGNC ENSG00000182083 80 0 0 107 10 8.54701 USP34 0 genome.wustl.edu 37 2 61570966 61570966 + Missense_Mutation SNP A A T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 2 61570966 61570966 A T SNP USP34 ENST00000398571 human ensembl 74_37 -1 known missense c.2484 p.H828Q 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 72 0 0 72 28 28 MRPL53 0 genome.wustl.edu 37 2 74699777 74699777 + Missense_Mutation SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 2 74699777 74699777 G A SNP MRPL53 ENST00000258105 human ensembl 74_37 -1 known missense c.11 p.A4V 0.066 NULL pfam_Ribosomal_L53_mit,superfamily_Thioredoxin-like_fold - no_errors MRPL53 HGNC ENSG00000204822 69 0 0 122 15 10.9489 DPM1 0 genome.wustl.edu 37 20 49562398 49562398 + Missense_Mutation SNP C C A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 20 49562398 49562398 C A SNP DPM1 ENST00000371582 human ensembl 74_37 -1 known missense c.358 p.D120Y 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2 - no_errors DPM1 HGNC ENSG00000000419 52 0 0 80 57 41.6058 KCNG1 0 genome.wustl.edu 37 20 49620924 49620924 + Silent SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 20 49620924 49620924 G A SNP KCNG1 ENST00000371571 human ensembl 74_37 -1 known silent c.1194 p.I398 0.990 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 53 0 0 76 14 15.5556 ZFP64 0 genome.wustl.edu 37 20 50704952 50704952 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 20 50704952 50704952 C T SNP ZFP64 ENST00000361387 human ensembl 74_37 -1 known missense c.1207 p.V403I 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 159 0 0 220 62 21.9858 SON 0 genome.wustl.edu 37 21 34924956 34924956 + Missense_Mutation SNP A A C TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 21 34924956 34924956 A C SNP SON ENST00000356577 human ensembl 74_37 +1 known missense c.3419 p.Y1140S 0.929 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom - no_errors SON HGNC ENSG00000159140 153 0 0 174 35 16.7464 CCDC116 0 genome.wustl.edu 37 22 21989386 21989386 + Missense_Mutation SNP A A G TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 22 21989386 21989386 A G SNP CCDC116 ENST00000292779 human ensembl 74_37 +1 known missense c.1034 p.D345G 0.000 NULL NULL - no_errors CCDC116 HGNC ENSG00000161180 63 0 0 52 18 25.7143 MORC2 0 genome.wustl.edu 37 22 31345746 31345746 + Silent SNP C C A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 22 31345746 31345746 C A SNP MORC2 ENST00000397641 human ensembl 74_37 -1 known silent c.309 p.G103 0.994 pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Carb-bd_dom,pfscan_Znf_CW - no_errors MORC2 HGNC ENSG00000133422 137 0 0 141 8 5.36913 PLA2G6 0 genome.wustl.edu 37 22 38565319 38565319 + Missense_Mutation SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 22 38565319 38565319 G A SNP PLA2G6 ENST00000332509 human ensembl 74_37 -1 known missense c.115 p.R39W 0.288 NULL pfam_Ankyrin_rpt,pfam_Patatin/PLipase_A2-rel,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PLA2G6 HGNC ENSG00000184381 40 0 0 32 13 28.8889 GTPBP1 0 genome.wustl.edu 37 22 39122319 39122319 + Silent SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 22 39122319 39122319 C T SNP GTPBP1 ENST00000216044 human ensembl 74_37 +1 known silent c.1275 p.D425 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 54 0 0 47 6 11.3208 NXPE3 0 genome.wustl.edu 37 3 101535732 101535732 + Missense_Mutation SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 3 101535732 101535732 G A SNP NXPE3 ENST00000273347 human ensembl 74_37 +1 known missense c.1016 p.R339H 1.000 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE3 HGNC ENSG00000144815 128 0 0 135 35 20.5882 KLF15 0 genome.wustl.edu 37 3 126071070 126071070 + Silent SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 3 126071070 126071070 C T SNP KLF15 ENST00000296233 human ensembl 74_37 -1 known silent c.696 p.S232 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF15 HGNC ENSG00000163884 11 0 0 8 7 46.6667 MSL2 0 genome.wustl.edu 37 3 135870265 135870265 + Silent SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 3 135870265 135870265 G A SNP MSL2 ENST00000309993 human ensembl 74_37 -1 known silent c.1458 p.N486 1.000 NULL pfscan_Znf_RING - no_errors MSL2 HGNC ENSG00000174579 31 0 0 40 3 6.97674 ATP11B 0 genome.wustl.edu 37 3 182597335 182597335 + Missense_Mutation SNP C C A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 3 182597335 182597335 C A SNP ATP11B ENST00000323116 human ensembl 74_37 +1 known missense c.2304 p.S768R 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11B HGNC ENSG00000058063 57 0 0 82 5 5.74713 TP63 0 genome.wustl.edu 37 3 189526151 189526151 + Missense_Mutation SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 3 189526151 189526151 G A SNP TP63 ENST00000264731 human ensembl 74_37 +1 known missense c.415 p.A139T 1.000 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP63 HGNC ENSG00000073282 123 0 0 106 28 20.8955 MUC4 0 genome.wustl.edu 37 3 195518251 195518251 + Missense_Mutation SNP T T A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 3 195518251 195518251 T A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.200 p.N67I 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 157 0 0 241 22 8.36502 LRRN1 0 genome.wustl.edu 37 3 3888191 3888191 + Missense_Mutation SNP C C A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 3 3888191 3888191 C A SNP LRRN1 ENST00000319331 human ensembl 74_37 +1 known missense c.1866 p.D622E 0.997 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN1 HGNC ENSG00000175928 82 0 0 86 16 15.6863 SHQ1 0 genome.wustl.edu 37 3 72861859 72861859 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 3 72861859 72861859 C T SNP SHQ1 ENST00000325599 human ensembl 74_37 -1 known missense c.1023 p.M341I 0.021 pfam_SHQ1 pfam_SHQ1,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors SHQ1 HGNC ENSG00000144736 109 0 0 135 10 6.89655 AGA 0 genome.wustl.edu 37 4 178354372 178354372 + Missense_Mutation SNP A A C TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 4 178354372 178354372 A C SNP AGA ENST00000264595 human ensembl 74_37 -1 known missense c.936 p.S312R 0.998 pfam_Peptidase_T2 pfam_Peptidase_T2 - no_errors AGA HGNC ENSG00000038002 147 0 0 159 28 14.9733 HGFAC 0 genome.wustl.edu 37 4 3449701 3449701 + Silent SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 4 3449701 3449701 C T SNP HGFAC ENST00000382774 human ensembl 74_37 +1 known silent c.1575 p.P525 0.006 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 14 0 0 11 4 26.6667 PDE6B 0 genome.wustl.edu 37 4 629696 629696 + Missense_Mutation SNP A A G TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 4 629696 629696 A G SNP PDE6B ENST00000496514 human ensembl 74_37 +1 known missense c.649 p.T217A 0.473 smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC ENSG00000133256 54 0 0 51 8 13.5593 UGT2B28 0 genome.wustl.edu 37 4 70152495 70152495 + Missense_Mutation SNP C C G TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 4 70152495 70152495 C G SNP UGT2B28 ENST00000335568 human ensembl 74_37 +1 known missense c.896 p.S299C 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B28 HGNC ENSG00000135226 220 0 0 227 23 9.2 AMBN 0 genome.wustl.edu 37 4 71472089 71472089 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 4 71472089 71472089 C T SNP AMBN ENST00000322937 human ensembl 74_37 +1 known missense c.986 p.P329L 0.000 pfam_Amelin,smart_Amelin pfam_Amelin,smart_Amelin - no_errors AMBN HGNC ENSG00000178522 37 0 0 47 9 16.0714 CPLX1 0 genome.wustl.edu 37 4 786246 786246 + Missense_Mutation SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 4 786246 786246 G A SNP CPLX1 ENST00000304062 human ensembl 74_37 -1 known missense c.182 p.A61V 0.993 pfam_Synaphin pfam_Synaphin - no_errors CPLX1 HGNC ENSG00000168993 23 0 0 22 4 15.3846 APC 0 genome.wustl.edu 37 5 112179026 112179026 + Nonsense_Mutation SNP G G T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 5 112179026 112179026 G T SNP APC ENST00000257430 human ensembl 74_37 +1 known nonsense c.7735 p.E2579* 1.000 pfam_APC_basic_dom pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 85 0 0 62 34 35.4167 PCDHA5 0 genome.wustl.edu 37 5 140202678 140202678 + Missense_Mutation SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 5 140202678 140202678 G A SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known missense c.1318 p.V440M 0.049 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 185 0 0 242 20 7.63359 PCDHA12 0 genome.wustl.edu 37 5 140257079 140257079 + Missense_Mutation SNP G G T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 5 140257079 140257079 G T SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known missense c.2022 p.Q674H 0.163 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 59 0 0 88 19 17.757 NDST1 0 genome.wustl.edu 37 5 149900873 149900873 + Silent SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 5 149900873 149900873 C T SNP NDST1 ENST00000261797 human ensembl 74_37 +1 known silent c.57 p.V19 0.992 NULL pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST1 HGNC ENSG00000070614 141 0 0 160 11 6.43275 NSD1 0 genome.wustl.edu 37 5 176638107 176638107 + Missense_Mutation SNP C C A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 5 176638107 176638107 C A SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known missense c.2707 p.P903T 1.000 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 68 0 0 84 13 13.4021 NIPBL 0 genome.wustl.edu 37 5 37016206 37016206 + Silent SNP T T G TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 5 37016206 37016206 T G SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known silent c.4710 p.L1570 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 40 0 0 60 4 6.25 TPPP 0 genome.wustl.edu 37 5 665401 665401 + Missense_Mutation SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 5 665401 665401 G A SNP TPPP ENST00000360578 human ensembl 74_37 -1 known missense c.476 p.S159L 0.995 pfam_P25-alpha pfam_P25-alpha - no_errors TPPP HGNC ENSG00000171368 42 0 0 18 12 40 ARSK 0 genome.wustl.edu 37 5 94922283 94922283 + Missense_Mutation SNP C C G TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 5 94922283 94922283 C G SNP ARSK ENST00000380009 human ensembl 74_37 +1 known missense c.717 p.I239M 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSK HGNC ENSG00000164291 56 0 0 68 6 8.10811 ARSK 0 genome.wustl.edu 37 5 94922300 94922300 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 5 94922300 94922300 C T SNP ARSK ENST00000380009 human ensembl 74_37 +1 known missense c.734 p.S245L 0.012 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSK HGNC ENSG00000164291 61 0 0 73 7 8.75 SYCP2L 0 genome.wustl.edu 37 6 10924818 10924818 + Missense_Mutation SNP G G T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 6 10924818 10924818 G T SNP SYCP2L ENST00000283141 human ensembl 74_37 +1 known missense c.1162 p.D388Y 0.977 NULL NULL - no_errors SYCP2L HGNC ENSG00000153157 54 0 0 40 13 24.5283 TIAM2 0 genome.wustl.edu 37 6 155469283 155469283 + Missense_Mutation SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 6 155469283 155469283 G A SNP TIAM2 ENST00000456144 human ensembl 74_37 +1 known missense c.1843 p.V615I 1.000 pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,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 TIAM2 HGNC ENSG00000146426 159 0 0 151 58 27.7512 BAG6 0 genome.wustl.edu 37 6 31608982 31608982 + Missense_Mutation SNP G G C TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 6 31608982 31608982 G C SNP BAG6 ENST00000404765 human ensembl 74_37 -1 known missense c.2686 p.L896V 0.998 NULL pfam_DUF3538,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors BAG6 HGNC ENSG00000204463 146 0 0 191 11 5.44554 BRD2 0 genome.wustl.edu 37 6 32947863 32947863 + Missense_Mutation SNP G G T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 6 32947863 32947863 G T SNP BRD2 ENST00000395289 human ensembl 74_37 +1 known missense c.2205 p.E735D 0.999 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD2 HGNC ENSG00000204256 60 0 0 73 19 20.6522 LRRC1 0 genome.wustl.edu 37 6 53785554 53785554 + Missense_Mutation SNP G G C TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 6 53785554 53785554 G C SNP LRRC1 ENST00000370888 human ensembl 74_37 +1 known missense c.1411 p.E471Q 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC1 HGNC ENSG00000137269 67 0 0 50 12 19.3548 LRRN3 0 genome.wustl.edu 37 7 110763604 110763604 + Missense_Mutation SNP T T A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 7 110763604 110763604 T A SNP LRRN3 ENST00000308478 human ensembl 74_37 +1 known missense c.776 p.V259D 0.044 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN3 HGNC ENSG00000173114 54 0 0 97 7 6.73077 PTPRZ1 0 genome.wustl.edu 37 7 121623786 121623786 + Silent SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 7 121623786 121623786 C T SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known silent c.687 p.Y229 0.997 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 126 0 0 149 19 11.3095 FSCN3 0 genome.wustl.edu 37 7 127235723 127235723 + Silent SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 7 127235723 127235723 C T SNP FSCN3 ENST00000265825 human ensembl 74_37 +1 known silent c.507 p.D169 0.195 superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN3 HGNC ENSG00000106328 110 0 0 84 23 21.4953 OPN1SW 0 genome.wustl.edu 37 7 128415116 128415116 + Missense_Mutation SNP G G C TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 7 128415116 128415116 G C SNP OPN1SW ENST00000249389 human ensembl 74_37 -1 known missense c.445 p.H149D 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_blue,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1SW HGNC ENSG00000128617 65 0 0 70 9 11.3924 ADCY1 0 genome.wustl.edu 37 7 45725561 45725561 + Missense_Mutation SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 7 45725561 45725561 G A SNP ADCY1 ENST00000297323 human ensembl 74_37 +1 known missense c.2074 p.V692M 1.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 38 0 0 50 4 7.40741 RGS22 0 genome.wustl.edu 37 8 101076146 101076146 + Missense_Mutation SNP C C A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 8 101076146 101076146 C A SNP RGS22 ENST00000360863 human ensembl 74_37 -1 known missense c.850 p.D284Y 0.977 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 108 0 0 159 18 10.1695 USP17L2 0 genome.wustl.edu 37 8 11995822 11995822 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 8 11995822 11995822 C T SNP USP17L2 ENST00000333796 human ensembl 74_37 -1 known missense c.448 p.A150T 0.128 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67 - no_errors USP17L2 HGNC ENSG00000223443 70 0 0 99 10 9.17431 TGS1 0 genome.wustl.edu 37 8 56717540 56717540 + Silent SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 8 56717540 56717540 C T SNP TGS1 ENST00000260129 human ensembl 74_37 +1 known silent c.2088 p.D696 0.998 pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TGS1 HGNC ENSG00000137574 95 0 0 100 11 9.90991 ASPH 0 genome.wustl.edu 37 8 62479859 62479859 + Missense_Mutation SNP C C G TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 8 62479859 62479859 C G SNP ASPH ENST00000379454 human ensembl 74_37 -1 known missense c.1168 p.E390Q 1.000 pfscan_TPR-contain_dom pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ASPH HGNC ENSG00000198363 97 0 0 106 12 10.1695 FABP12 0 genome.wustl.edu 37 8 82439346 82439346 + Missense_Mutation SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 8 82439346 82439346 G A SNP FABP12 ENST00000360464 human ensembl 74_37 -1 known missense c.257 p.T86I 0.970 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP12 HGNC ENSG00000197416 18 0 0 27 3 10 GEM 0 genome.wustl.edu 37 8 95272701 95272701 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 8 95272701 95272701 C T SNP GEM ENST00000297596 human ensembl 74_37 -1 known missense c.31 p.G11S 1.000 pirsf_Small_GTPase_GEM/REM/Rad pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors GEM HGNC ENSG00000164949 36 0 0 42 15 26.3158 INTS8 0 genome.wustl.edu 37 8 95888354 95888354 + Missense_Mutation SNP A A C TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 8 95888354 95888354 A C SNP INTS8 ENST00000523731 human ensembl 74_37 +1 known missense c.2741 p.K914T 1.000 NULL NULL - no_errors INTS8 HGNC ENSG00000164941 75 0 0 149 10 6.28931 PTDSS1 0 genome.wustl.edu 37 8 97274448 97274448 + Splice_Site SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 8 97274448 97274448 G A SNP PTDSS1 ENST00000517309 human ensembl 74_37 +1 known splice_site c.179+1 e1+1 1.000 - - - no_errors PTDSS1 HGNC ENSG00000156471 84 0 0 93 35 27.3438 AKNA 0 genome.wustl.edu 37 9 117139520 117139520 + Silent SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 9 117139520 117139520 G A SNP AKNA ENST00000307564 human ensembl 74_37 -1 known silent c.567 p.V189 0.094 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 123 0 0 107 10 8.54701 LRSAM1 0 genome.wustl.edu 37 9 130219654 130219654 + Silent SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 9 130219654 130219654 G A SNP LRSAM1 ENST00000300417 human ensembl 74_37 +1 known silent c.234 p.L78 1.000 NULL pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors LRSAM1 HGNC ENSG00000148356 40 0 0 75 4 5.06329 TPRN 0 genome.wustl.edu 37 9 140093497 140093497 + Missense_Mutation SNP C C A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 9 140093497 140093497 C A SNP TPRN ENST00000409012 human ensembl 74_37 -1 known missense c.1667 p.G556V 1.000 NULL NULL - no_errors TPRN HGNC ENSG00000176058 104 0 0 112 8 6.66667 CNTFR 0 genome.wustl.edu 37 9 34556384 34556384 + Missense_Mutation SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 9 34556384 34556384 G A SNP CNTFR ENST00000351266 human ensembl 74_37 -1 known missense c.637 p.R213W 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTFR HGNC ENSG00000122756 68 0 0 65 9 12.1622 ZCCHC7 0 genome.wustl.edu 37 9 37126557 37126557 + Silent SNP C C A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 9 37126557 37126557 C A SNP ZCCHC7 ENST00000336755 human ensembl 74_37 +1 known silent c.228 p.V76 1.000 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC7 HGNC ENSG00000147905 216 0 0 224 20 8.19672 DIRAS2 0 genome.wustl.edu 37 9 93375739 93375739 + Missense_Mutation SNP T T C TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 9 93375739 93375739 T C SNP DIRAS2 ENST00000375765 human ensembl 74_37 -1 known missense c.371 p.D124G 0.998 pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors DIRAS2 HGNC ENSG00000165023 104 0 0 102 17 14.2857 TEX13A 0 genome.wustl.edu 37 X 104464113 104464113 + Missense_Mutation SNP C C T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac X 104464113 104464113 C T SNP TEX13A ENST00000413579 human ensembl 74_37 -1 known missense c.763 p.E255K 0.000 NULL pfam_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors TEX13A HGNC ENSG00000133149 23 0 0 38 8 17.3913 SLC6A8 0 genome.wustl.edu 37 X 152960076 152960076 + Silent SNP G G A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac X 152960076 152960076 G A SNP SLC6A8 ENST00000253122 human ensembl 74_37 +1 known silent c.1584 p.P528 0.260 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_creatine - no_errors SLC6A8 HGNC ENSG00000130821 49 0 0 47 11 18.9655 DLG3 0 genome.wustl.edu 37 X 69719108 69719108 + Silent SNP A A G TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac X 69719108 69719108 A G SNP DLG3 ENST00000194900 human ensembl 74_37 +1 known silent c.2049 p.K683 0.998 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG3 HGNC ENSG00000082458 21 0 0 15 20 57.1429 KIAA2022 0 genome.wustl.edu 37 X 73960055 73960055 + Missense_Mutation SNP T T C TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac X 73960055 73960055 T C SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.4337 p.K1446R 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 45 0 0 36 49 57.6471 ZCCHC5 0 genome.wustl.edu 37 X 77913459 77913459 + Silent SNP G G T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac X 77913459 77913459 G T SNP ZCCHC5 ENST00000321110 human ensembl 74_37 -1 known silent c.459 p.P153 0.001 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC5 HGNC ENSG00000179300 29 0 0 49 8 14.0351 DPF3 0 genome.wustl.edu 37 14 73159912 73159912 + Frame_Shift_Del DEL T T - TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 14 73159912 73159912 T - DEL DPF3 ENST00000366353 human ensembl 74_37 -1 known frame_shift_del c.779 p.K260fs 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DPF3 HGNC ENSG00000205683 60 0 0 61 16 20.7792 CNTNAP1 0 genome.wustl.edu 37 17 40843909 40843911 + In_Frame_Del DEL CTT CTT - TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 17 40843909 40843911 CTT - DEL CNTNAP1 ENST00000264638 human ensembl 74_37 +1 known in_frame_del c.2430_2432 p.F811in_frame_del 0.995:1.000:1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 434 0 0 526 92 14.8867 MUC16 0 genome.wustl.edu 37 19 9060140 9060140 + Frame_Shift_Del DEL A A - TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 19 9060140 9060140 A - DEL MUC16 ENST00000397910 human ensembl 74_37 -1 known frame_shift_del c.27306 p.F9102fs 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 102 0 0 74 33 30.8411 PDS5A 0 genome.wustl.edu 37 4 39900144 39900145 + Frame_Shift_Ins INS - - T TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 4 39900144 39900145 - T INS PDS5A ENST00000303538 human ensembl 74_37 -1 known frame_shift_ins c.1635_1634 p.N545fs 1.000:1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 14 0 0 12 6 33.3333 OTOP1 0 genome.wustl.edu 37 4 4228274 4228282 + In_Frame_Del DEL CCACAGCAG CCACAGCAG - TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 CCACAGCAG CCACAGCAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 4 4228274 4228282 CCACAGCAG - DEL OTOP1 ENST00000296358 human ensembl 74_37 -1 known in_frame_del c.318_310 p.LLW104in_frame_del 1.000:1.000:1.000:0.995:0.999:0.998:0.998:1.000:1.000 NULL pfam_Otopetrin - no_errors OTOP1 HGNC ENSG00000163982 25 0 0 42 11 20.7547 HNRNPDL 0 genome.wustl.edu 37 4 83349437 83349438 + Frame_Shift_Ins INS - - AC TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 4 83349437 83349438 - AC INS HNRNPDL ENST00000295470 human ensembl 74_37 -1 known frame_shift_ins c.606_605 p.D203fs 0.946:1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPDL HGNC ENSG00000152795 176 0 0 160 13 7.51445 CDC5L 0 genome.wustl.edu 37 6 44374102 44374103 + Frame_Shift_Ins INS - - A TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 6 44374102 44374103 - A INS CDC5L ENST00000371477 human ensembl 74_37 +1 known frame_shift_ins c.801_802 p.R268fs 1.000:1.000 NULL pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors CDC5L HGNC ENSG00000096401 52 0 0 77 14 15.3846 PTPN12 0 genome.wustl.edu 37 7 77268032 77268033 + Frame_Shift_Del DEL AG AG - TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac 7 77268032 77268033 AG - DEL PTPN12 ENST00000248594 human ensembl 74_37 +1 known frame_shift_del c.2265_2266 p.E756fs 0.989:1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Ptpn_12,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN12 HGNC ENSG00000127947 122 0 0 99 20 16.8067 BCORL1 0 genome.wustl.edu 37 X 129149180 129149180 + Frame_Shift_Del DEL C C - TCGA-MX-A666-01A-11D-A31L-08 TCGA-MX-A666-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3e3d2664-71b5-4359-91dc-25e58b2059e8 b6f337a1-96c2-4052-ab28-cefc0d0cf3ac X 129149180 129149180 C - DEL BCORL1 ENST00000303743 human ensembl 74_37 +1 known frame_shift_del c.2432 p.A811fs 0.793 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 63 0 0 49 48 49.4845