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 STXBP3 0 genome.wustl.edu 37 1 109336246 109336246 + Missense_Mutation SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 1 109336246 109336246 C T SNP STXBP3 ENST00000370008 human ensembl 74_37 +1 known missense c.1006 p.H336Y 0.997 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP3 HGNC ENSG00000116266 90 0 0 46 11 19.2982 MAGI3 0 genome.wustl.edu 37 1 114196495 114196495 + Silent SNP A A G TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 1 114196495 114196495 A G SNP MAGI3 ENST00000369611 human ensembl 74_37 +1 known silent c.2484 p.T828 0.232 superfamily_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI3 HGNC ENSG00000081026 299 1 0.333333 188 30 13.7615 VPS13D 0 genome.wustl.edu 37 1 12317070 12317070 + Missense_Mutation SNP C C A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 1 12317070 12317070 C A SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.867 p.F289L 0.999 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 144 1 0.689655 96 24 20 HRNR 0 genome.wustl.edu 37 1 152192292 152192292 + Missense_Mutation SNP C C G TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 1 152192292 152192292 C G SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.1813 p.G605R 0.018 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 467 0 0 245 138 36.0313 CD1C 0 genome.wustl.edu 37 1 158261017 158261017 + Missense_Mutation SNP A A T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 1 158261017 158261017 A T SNP CD1C ENST00000368170 human ensembl 74_37 +1 known missense c.155 p.E52V 0.001 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1C HGNC ENSG00000158481 99 0 0 42 21 33.3333 OR10K2 0 genome.wustl.edu 37 1 158390365 158390365 + Missense_Mutation SNP C C A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 1 158390365 158390365 C A SNP OR10K2 ENST00000314902 human ensembl 74_37 -1 known missense c.292 p.A98S 0.993 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10K2 HGNC ENSG00000180708 179 1 0.555556 83 63 43.1507 OR6N1 0 genome.wustl.edu 37 1 158736147 158736147 + Missense_Mutation SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 1 158736147 158736147 G A SNP OR6N1 ENST00000335094 human ensembl 74_37 -1 known missense c.326 p.A109V 0.272 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 OR6N1 HGNC ENSG00000197403 50 0 0 41 14 25.4545 PVRL4 0 genome.wustl.edu 37 1 161049643 161049643 + Missense_Mutation SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 1 161049643 161049643 C T SNP PVRL4 ENST00000368012 human ensembl 74_37 -1 known missense c.176 p.G59D 0.003 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PVRL4 HGNC ENSG00000143217 108 0 0 51 32 38.5542 LRRC52 0 genome.wustl.edu 37 1 165514100 165514100 + Silent SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 1 165514100 165514100 C T SNP LRRC52 ENST00000294818 human ensembl 74_37 +1 known silent c.567 p.N189 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC52 HGNC ENSG00000162763 175 0 0 127 28 18.0645 CROCCP2 0 genome.wustl.edu 37 1 16946434 16946434 + RNA SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 1 16946434 16946434 C T SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 0.987 - - - no_errors CROCCP2 HGNC ENSG00000215908 19 0 0 18 4 18.1818 SCYL3 0 genome.wustl.edu 37 1 169823652 169823652 + Missense_Mutation SNP T T G TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 1 169823652 169823652 T G SNP SCYL3 ENST00000367770 human ensembl 74_37 -1 known missense c.1928 p.Q643P 0.923 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom - no_errors SCYL3 HGNC ENSG00000000457 135 0 0 79 24 23.301 PAPPA2 0 genome.wustl.edu 37 1 176740108 176740108 + Missense_Mutation SNP A A G TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 1 176740108 176740108 A G SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.4507 p.S1503G 0.998 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 73 0 0 37 36 49.3151 SHCBP1L 0 genome.wustl.edu 37 1 182908441 182908441 + Missense_Mutation SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 1 182908441 182908441 C T SNP SHCBP1L ENST00000367547 human ensembl 74_37 -1 known missense c.946 p.E316K 0.986 NULL superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 - no_errors SHCBP1L HGNC ENSG00000157060 83 0 0 69 8 10.3896 BRINP3 0 genome.wustl.edu 37 1 190195400 190195400 + Missense_Mutation SNP G G T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 1 190195400 190195400 G T SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known missense c.773 p.A258E 1.000 smart_MACPF pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 72 0 0 40 9 18.3673 UBR4 0 genome.wustl.edu 37 1 19465681 19465681 + Missense_Mutation SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 1 19465681 19465681 G A SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.8627 p.A2876V 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 125 0 0 107 29 21.3235 WNT4 0 genome.wustl.edu 37 1 22446680 22446680 + Missense_Mutation SNP C C G TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 1 22446680 22446680 C G SNP WNT4 ENST00000290167 human ensembl 74_37 -1 known missense c.919 p.E307Q 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt4 - no_errors WNT4 HGNC ENSG00000162552 34 0 0 19 8 29.6296 AHDC1 0 genome.wustl.edu 37 1 27876849 27876849 + Missense_Mutation SNP T T C TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 1 27876849 27876849 T C SNP AHDC1 ENST00000247087 human ensembl 74_37 -1 known missense c.1778 p.K593R 1.000 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 203 0 0 101 20 16.5289 STK40 0 genome.wustl.edu 37 1 36826900 36826900 + Missense_Mutation SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 1 36826900 36826900 C T SNP STK40 ENST00000373130 human ensembl 74_37 -1 known missense c.34 p.E12K 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK40 HGNC ENSG00000196182 157 1 0.632911 86 28 24.5614 AJAP1 0 genome.wustl.edu 37 1 4832493 4832493 + Silent SNP T T C TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 1 4832493 4832493 T C SNP AJAP1 ENST00000378190 human ensembl 74_37 +1 known silent c.1071 p.S357 0.007 NULL NULL - no_errors AJAP1 HGNC ENSG00000196581 59 0 0 27 9 25 TNFRSF9 0 genome.wustl.edu 37 1 7993258 7993258 + Missense_Mutation SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 1 7993258 7993258 G A SNP TNFRSF9 ENST00000377507 human ensembl 74_37 -1 known missense c.643 p.R215W 0.000 prints_TNFR_9 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_9 - no_errors TNFRSF9 HGNC ENSG00000049249 68 0 0 23 8 25.8065 SLC44A3 0 genome.wustl.edu 37 1 95330312 95330312 + Missense_Mutation SNP C C G TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 1 95330312 95330312 C G SNP SLC44A3 ENST00000271227 human ensembl 74_37 +1 known missense c.1252 p.P418A 0.997 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A3 HGNC ENSG00000143036 173 0 0 103 27 20.7692 MRPL43 0 genome.wustl.edu 37 10 102747079 102747079 + Missense_Mutation SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 10 102747079 102747079 C T SNP MRPL43 ENST00000370242 human ensembl 74_37 -1 known missense c.122 p.R41H 1.000 superfamily_Thioredoxin-like_fold,smart_Ribosome/NADH_DH pfam_Ribosome/NADH_DH,superfamily_Thioredoxin-like_fold,smart_Ribosome/NADH_DH - no_errors MRPL43 HGNC ENSG00000055950 60 0 0 26 6 18.75 PNLIPRP1 0 genome.wustl.edu 37 10 118363625 118363625 + Missense_Mutation SNP A A T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 10 118363625 118363625 A T SNP PNLIPRP1 ENST00000358834 human ensembl 74_37 +1 known missense c.1147 p.N383Y 0.996 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_panc,prints_Lipase - no_errors PNLIPRP1 HGNC ENSG00000187021 57 0 0 41 10 19.6078 CUBN 0 genome.wustl.edu 37 10 16911742 16911742 + Missense_Mutation SNP T T A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 10 16911742 16911742 T A SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.9347 p.K3116M 0.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 161 0 0 164 23 12.2995 APBB1IP 0 genome.wustl.edu 37 10 26830559 26830559 + Missense_Mutation SNP T T C TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 10 26830559 26830559 T C SNP APBB1IP ENST00000376236 human ensembl 74_37 +1 known missense c.1093 p.Y365H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc - no_errors APBB1IP HGNC ENSG00000077420 48 0 0 39 11 22 MYPN 0 genome.wustl.edu 37 10 69881710 69881710 + Missense_Mutation SNP G G C TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 10 69881710 69881710 G C SNP MYPN ENST00000358913 human ensembl 74_37 +1 known missense c.515 p.R172T 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MYPN HGNC ENSG00000138347 73 0 0 71 6 7.79221 ZSWIM8 0 genome.wustl.edu 37 10 75548519 75548519 + Silent SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 10 75548519 75548519 G A SNP ZSWIM8 ENST00000398706 human ensembl 74_37 +1 known silent c.300 p.V100 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM8 HGNC ENSG00000214655 42 0 0 40 5 11.1111 EIF5AL1 0 genome.wustl.edu 37 10 81272670 81272670 + Missense_Mutation SNP T T C TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 10 81272670 81272670 T C SNP EIF5AL1 ENST00000520547 human ensembl 74_37 +1 known missense c.265 p.F89L 1.000 pfam_Transl_elong_IF5A_C,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A pfam_Transl_elong_IF5A_C,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A - no_errors EIF5AL1 HGNC ENSG00000253626 75 0 0 45 7 13.4615 LRIT1 0 genome.wustl.edu 37 10 85994113 85994113 + Missense_Mutation SNP G G T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 10 85994113 85994113 G T SNP LRIT1 ENST00000372105 human ensembl 74_37 -1 known missense c.611 p.A204E 0.877 smart_Cys-rich_flank_reg_C pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,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 LRIT1 HGNC ENSG00000148602 154 0 0 61 10 14.0845 TNKS2 0 genome.wustl.edu 37 10 93582083 93582083 + Silent SNP T T G TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 10 93582083 93582083 T G SNP TNKS2 ENST00000371627 human ensembl 74_37 +1 known silent c.759 p.S253 0.997 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS2 HGNC ENSG00000107854 154 0 0 93 31 25 ZNF518A 0 genome.wustl.edu 37 10 97918525 97918525 + RNA SNP T T A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 10 97918525 97918525 T A SNP ZNF518A ENST00000316045 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors ZNF518A HGNC ENSG00000177853 50 0 0 41 11 21.1538 HTR3B 0 genome.wustl.edu 37 11 113780172 113780172 + Missense_Mutation SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 11 113780172 113780172 G A SNP HTR3B ENST00000260191 human ensembl 74_37 +1 known missense c.208 p.D70N 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_B,prints_5HT3_rcpt,prints_Neur_channel,prints_5HT3_rcpt_A,tigrfam_Neur_channel - no_errors HTR3B HGNC ENSG00000149305 43 0 0 20 16 44.4444 OR8H1 0 genome.wustl.edu 37 11 56057747 56057747 + Silent SNP A A G TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 11 56057747 56057747 A G SNP OR8H1 ENST00000313022 human ensembl 74_37 -1 known silent c.792 p.S264 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H1 HGNC ENSG00000181693 106 0 0 33 36 52.1739 MALAT1 0 genome.wustl.edu 37 11 65266460 65266460 + RNA SNP T T G TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 11 65266460 65266460 T G SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 145 0 0 109 31 22.1429 RPLP2 0 genome.wustl.edu 37 11 812594 812594 + Missense_Mutation SNP G G T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 11 812594 812594 G T SNP RPLP2 ENST00000321153 human ensembl 74_37 +1 known missense c.232 p.G78C 0.738 pfam_Ribosomal_L10/L12 pfam_Ribosomal_L10/L12 - no_errors RPLP2 HGNC ENSG00000177600 65 0 0 38 6 13.6364 DRAM1 0 genome.wustl.edu 37 12 102295137 102295137 + Missense_Mutation SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 12 102295137 102295137 C T SNP DRAM1 ENST00000258534 human ensembl 74_37 +1 known missense c.268 p.P90S 0.745 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 - no_errors DRAM1 HGNC ENSG00000136048 89 0 0 37 15 28.8462 TAS2R43 0 genome.wustl.edu 37 12 11244166 11244166 + Silent SNP G G C TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 12 11244166 11244166 G C SNP TAS2R43 ENST00000531678 human ensembl 74_37 -1 known silent c.663 p.T221 0.185 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R43 HGNC ENSG00000255374 33 0 0 49 6 10.9091 TAS2R43 0 genome.wustl.edu 37 12 11244194 11244194 + Missense_Mutation SNP T T C TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 12 11244194 11244194 T C SNP TAS2R43 ENST00000531678 human ensembl 74_37 -1 known missense c.635 p.H212R 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R43 HGNC ENSG00000255374 13 0 0 30 4 11.7647 PXN 0 genome.wustl.edu 37 12 120660701 120660701 + Missense_Mutation SNP T T A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 12 120660701 120660701 T A SNP PXN ENST00000267257 human ensembl 74_37 -1 known missense c.458 p.N153I 1.000 prints_Paxillin pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM,prints_Paxillin - no_errors PXN HGNC ENSG00000089159 38 0 0 47 20 29.8507 BCL2L14 0 genome.wustl.edu 37 12 12247709 12247709 + Missense_Mutation SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 12 12247709 12247709 G A SNP BCL2L14 ENST00000308721 human ensembl 74_37 +1 known missense c.790 p.E264K 0.978 NULL pfscan_Bcl2-like - no_errors BCL2L14 HGNC ENSG00000121380 179 0 0 91 20 18.018 GYS2 0 genome.wustl.edu 37 12 21689968 21689968 + Missense_Mutation SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 12 21689968 21689968 G A SNP GYS2 ENST00000261195 human ensembl 74_37 -1 known missense c.2032 p.R678W 0.993 NULL pfam_Glycogen_synth,pfam_Glyco_trans_1 - no_errors GYS2 HGNC ENSG00000111713 109 0 0 72 15 17.2414 RACGAP1 0 genome.wustl.edu 37 12 50384086 50384086 + Missense_Mutation SNP G G T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 12 50384086 50384086 G T SNP RACGAP1 ENST00000312377 human ensembl 74_37 -1 known missense c.1864 p.Q622K 1.000 NULL pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,superfamily_Regulat_G_prot_signal_superfam,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors RACGAP1 HGNC ENSG00000161800 102 0 0 46 13 22.0339 IKZF4 0 genome.wustl.edu 37 12 56428613 56428613 + Missense_Mutation SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 12 56428613 56428613 G A SNP IKZF4 ENST00000262032 human ensembl 74_37 +1 known missense c.1256 p.R419Q 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF4 HGNC ENSG00000123411 31 0 0 42 5 10.6383 FAM19A2 0 genome.wustl.edu 37 12 62104163 62104163 + Missense_Mutation SNP G G C TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 12 62104163 62104163 G C SNP FAM19A2 ENST00000551449 human ensembl 74_37 -1 putative missense c.142 p.Q48E 0.997 NULL NULL - no_errors FAM19A2 HGNC ENSG00000198673 167 0 0 101 26 20.4724 CARS2 0 genome.wustl.edu 37 13 111329399 111329399 + Missense_Mutation SNP T T A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 13 111329399 111329399 T A SNP CARS2 ENST00000257347 human ensembl 74_37 -1 known missense c.707 p.K236I 0.993 pfam_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,superfamily_tRNAsynth_1a_anticodon-bd,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase - no_errors CARS2 HGNC ENSG00000134905 78 0 0 30 36 54.5455 ENSG00000121388 0 genome.wustl.edu 37 13 19761310 19761310 + Missense_Mutation SNP A A C TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 13 19761310 19761310 A C SNP ENSG00000121388 ENST00000382988 human ensembl 74_37 +1 putative missense c.84 p.K28N 1.000 NULL NULL - no_errors RP11-408E5.4 Clone_based_vega_gene ENSG00000121388 28 0 0 21 13 38.2353 MTUS2 0 genome.wustl.edu 37 13 29933476 29933476 + Missense_Mutation SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 13 29933476 29933476 C T SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.3013 p.R1005W 0.994 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 26 0 0 22 15 40.5405 CCDC169-SOHLH2 0 genome.wustl.edu 37 13 36748935 36748935 + Missense_Mutation SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 13 36748935 36748935 G A SNP CCDC169-SOHLH2 ENST00000511166 human ensembl 74_37 -1 known missense c.944 p.A315V 0.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors CCDC169-SOHLH2 HGNC ENSG00000250709 94 0 0 27 48 64 CRIP2 0 genome.wustl.edu 37 14 105945789 105945789 + Missense_Mutation SNP A A G TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 14 105945789 105945789 A G SNP CRIP2 ENST00000329146 human ensembl 74_37 +1 known missense c.518 p.Y173C 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors CRIP2 HGNC ENSG00000182809 156 0 0 123 14 10.219 ADAM21P1 0 genome.wustl.edu 37 14 70713708 70713708 + RNA SNP A A G TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 14 70713708 70713708 A G SNP ADAM21P1 ENST00000530196 human ensembl 74_37 -1 known rna NULL NULL 0.057 - - - no_errors ADAM21P1 HGNC ENSG00000235812 126 0 0 108 18 14.2857 SIPA1L1 0 genome.wustl.edu 37 14 72054702 72054702 + Missense_Mutation SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 14 72054702 72054702 G A SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.113 p.R38H 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 160 0 0 105 22 17.3228 FLRT2 0 genome.wustl.edu 37 14 86089570 86089570 + Missense_Mutation SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 14 86089570 86089570 G A SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known missense c.1712 p.R571H 1.000 NULL pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 181 0 0 115 25 17.8571 SERPINA10 0 genome.wustl.edu 37 14 94756415 94756415 + Silent SNP A A G TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 14 94756415 94756415 A G SNP SERPINA10 ENST00000261994 human ensembl 74_37 -1 known silent c.516 p.F172 0.007 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA10 HGNC ENSG00000140093 134 0 0 84 21 20 NPAP1 0 genome.wustl.edu 37 15 24922516 24922516 + Missense_Mutation SNP C C G TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 15 24922516 24922516 C G SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.1502 p.P501R 0.004 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 302 0 0 105 60 36.3636 LTK 0 genome.wustl.edu 37 15 41805064 41805064 + Missense_Mutation SNP G G T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 15 41805064 41805064 G T SNP LTK ENST00000263800 human ensembl 74_37 -1 known missense c.200 p.S67Y 0.005 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LTK HGNC ENSG00000062524 62 0 0 27 6 18.1818 SLC12A1 0 genome.wustl.edu 37 15 48521412 48521412 + Missense_Mutation SNP A A C TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 15 48521412 48521412 A C SNP SLC12A1 ENST00000380993 human ensembl 74_37 +1 known missense c.751 p.S251R 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A1 HGNC ENSG00000074803 10 0 0 4 3 42.8571 FBN1 0 genome.wustl.edu 37 15 48766498 48766498 + Missense_Mutation SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 15 48766498 48766498 G A SNP FBN1 ENST00000537463 human ensembl 74_37 -1 known missense c.836 p.A279V 1.000 NULL superfamily_TB_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 34 0 0 28 8 22.2222 ENSG00000259285 0 genome.wustl.edu 37 15 58357679 58357679 + RNA SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 15 58357679 58357679 G A SNP ENSG00000259285 ENST00000559684 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2330J20.2 Clone_based_vega_gene ENSG00000259285 63 0 0 32 11 25.5814 PDXDC1 0 genome.wustl.edu 37 16 15122811 15122811 + Silent SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 16 15122811 15122811 G A SNP PDXDC1 ENST00000396410 human ensembl 74_37 +1 known silent c.1281 p.A427 0.002 superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors PDXDC1 HGNC ENSG00000179889 42 0 0 24 17 41.4634 DPEP1 0 genome.wustl.edu 37 16 89702385 89702385 + Silent SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 16 89702385 89702385 G A SNP DPEP1 ENST00000261615 human ensembl 74_37 +1 known silent c.174 p.L58 0.423 pfam_Peptidase_M19 pfam_Peptidase_M19 - no_errors DPEP1 HGNC ENSG00000015413 34 0 0 37 5 11.9048 MC1R 0 genome.wustl.edu 37 16 89986303 89986303 + Missense_Mutation SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 16 89986303 89986303 C T SNP MC1R ENST00000555147 human ensembl 74_37 +1 known missense c.637 p.R213W 0.721 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MSH_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MSH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC1R HGNC ENSG00000258839 41 0 0 31 3 8.82353 DNAH9 0 genome.wustl.edu 37 17 11554622 11554622 + Silent SNP T T G TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 17 11554622 11554622 T G SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known silent c.2334 p.T778 0.565 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 76 0 0 25 51 67.1053 CCL8 0 genome.wustl.edu 37 17 32647376 32647376 + Silent SNP C C A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 17 32647376 32647376 C A SNP CCL8 ENST00000394620 human ensembl 74_37 +1 known silent c.165 p.T55 0.667 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL8 HGNC ENSG00000108700 58 0 0 32 9 21.9512 KRT25 0 genome.wustl.edu 37 17 38907471 38907471 + Silent SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 17 38907471 38907471 G A SNP KRT25 ENST00000312150 human ensembl 74_37 -1 known silent c.777 p.Y259 1.000 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT25 HGNC ENSG00000204897 79 0 0 125 46 26.9006 KRT26 0 genome.wustl.edu 37 17 38927474 38927474 + Silent SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 17 38927474 38927474 G A SNP KRT26 ENST00000335552 human ensembl 74_37 -1 known silent c.456 p.T152 0.044 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT26 HGNC ENSG00000186393 29 0 0 80 9 10.1124 ZZEF1 0 genome.wustl.edu 37 17 3921227 3921227 + Missense_Mutation SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 17 3921227 3921227 C T SNP ZZEF1 ENST00000381638 human ensembl 74_37 -1 known missense c.7544 p.R2515Q 1.000 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 87 0 0 83 9 9.78261 MLX 0 genome.wustl.edu 37 17 40721585 40721585 + Missense_Mutation SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 17 40721585 40721585 C T SNP MLX ENST00000246912 human ensembl 74_37 +1 known missense c.599 p.T200M 0.991 superfamily_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLX HGNC ENSG00000108788 68 0 0 131 20 13.245 RABEP1 0 genome.wustl.edu 37 17 5264577 5264577 + Silent SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 17 5264577 5264577 C T SNP RABEP1 ENST00000262477 human ensembl 74_37 +1 known silent c.1170 p.F390 1.000 NULL pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin - no_errors RABEP1 HGNC ENSG00000029725 73 0 0 59 4 6.34921 TMEM104 0 genome.wustl.edu 37 17 72784932 72784932 + Missense_Mutation SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 17 72784932 72784932 G A SNP TMEM104 ENST00000335464 human ensembl 74_37 +1 known missense c.172 p.V58M 0.702 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors TMEM104 HGNC ENSG00000109066 65 0 0 47 5 9.61538 TP53 0 genome.wustl.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 17 7577094 7577094 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.844 p.R282W 0.997 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 43 0 0 13 40 75.4717 KCNAB3 0 genome.wustl.edu 37 17 7829022 7829022 + Missense_Mutation SNP T T C TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 17 7829022 7829022 T C SNP KCNAB3 ENST00000303790 human ensembl 74_37 -1 known missense c.517 p.S173G 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,tigrfam_K_chnl_volt-dep_bsu_KCNAB pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB3,prints_K_chnl_volt-dep_bsu_KCNAB1,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB3 HGNC ENSG00000170049 253 0 0 283 37 11.5625 CXADRP3 0 genome.wustl.edu 37 18 14479143 14479143 + RNA SNP T T C TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 18 14479143 14479143 T C SNP CXADRP3 ENST00000581457 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CXADRP3 HGNC ENSG00000265766 40 0 0 17 14 45.1613 DSG4 0 genome.wustl.edu 37 18 28980860 28980860 + Missense_Mutation SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 18 28980860 28980860 G A SNP DSG4 ENST00000359747 human ensembl 74_37 +1 known missense c.1294 p.D432N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG4 HGNC ENSG00000175065 97 0 0 83 17 17 CCDC151 0 genome.wustl.edu 37 19 11531515 11531515 + Silent SNP A A C TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 19 11531515 11531515 A C SNP CCDC151 ENST00000356392 human ensembl 74_37 -1 known silent c.1776 p.S592 0.000 NULL NULL - no_errors CCDC151 HGNC ENSG00000198003 87 0 0 96 8 7.69231 CHERP 0 genome.wustl.edu 37 19 16641681 16641681 + Nonsense_Mutation SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 19 16641681 16641681 G A SNP CHERP ENST00000546361 human ensembl 74_37 -1 known nonsense c.685 p.Q229* 1.000 pfam_RNA_pol_II-bd,superfamily_ENTH_VHS pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors CHERP HGNC ENSG00000085872 49 0 0 51 12 19.0476 NWD1 0 genome.wustl.edu 37 19 16884108 16884108 + Missense_Mutation SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 19 16884108 16884108 G A SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known missense c.2582 p.R861Q 0.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 59 0 0 42 12 22.2222 DOT1L 0 genome.wustl.edu 37 19 2210445 2210445 + Missense_Mutation SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 19 2210445 2210445 G A SNP DOT1L ENST00000398665 human ensembl 74_37 +1 known missense c.1052 p.S351N 1.000 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 9 0 0 38 2 5 LINGO3 0 genome.wustl.edu 37 19 2290977 2290977 + Missense_Mutation SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 19 2290977 2290977 G A SNP LINGO3 ENST00000404279 human ensembl 74_37 -1 known missense c.799 p.R267W 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO3 HGNC ENSG00000220008 39 0 0 70 13 15.6627 FBXO46 0 genome.wustl.edu 37 19 46215503 46215503 + Silent SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 19 46215503 46215503 G A SNP FBXO46 ENST00000317683 human ensembl 74_37 -1 known silent c.1251 p.D417 0.044 NULL superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO46 HGNC ENSG00000177051 33 0 0 95 9 8.65385 CCDC114 0 genome.wustl.edu 37 19 48806095 48806095 + Missense_Mutation SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 19 48806095 48806095 G A SNP CCDC114 ENST00000315396 human ensembl 74_37 -1 known missense c.985 p.R329C 0.001 NULL NULL - no_errors CCDC114 HGNC ENSG00000105479 141 0 0 92 18 16.3636 KLK8 0 genome.wustl.edu 37 19 51501058 51501058 + Silent SNP G G T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 19 51501058 51501058 G T SNP KLK8 ENST00000391806 human ensembl 74_37 -1 known silent c.711 p.I237 0.480 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK8 HGNC ENSG00000129455 115 0 0 61 19 23.75 TPM3P9 0 genome.wustl.edu 37 19 53945679 53945679 + RNA SNP T T G TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 19 53945679 53945679 T G SNP TPM3P9 ENST00000424846 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TPM3P9 HGNC ENSG00000241015 56 0 0 44 3 6.38298 KIR2DL4 0 genome.wustl.edu 37 19 55324712 55324712 + Missense_Mutation SNP A A C TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 19 55324712 55324712 A C SNP KIR2DL4 ENST00000396284 human ensembl 74_37 +1 known missense c.833 p.N278T 0.000 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL4 HGNC ENSG00000189013 33 0 0 33 8 19.5122 MUC16 0 genome.wustl.edu 37 19 9003640 9003640 + Missense_Mutation SNP G G T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 19 9003640 9003640 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.40000 p.L13334M 0.315 pfam_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 244 0 0 138 87 38.6667 MUC16 0 genome.wustl.edu 37 19 9059771 9059771 + Missense_Mutation SNP C C A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 19 9059771 9059771 C A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.27675 p.M9225I 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 89 0 0 88 35 28.4553 BUB1 0 genome.wustl.edu 37 2 111415164 111415164 + Silent SNP A A T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 2 111415164 111415164 A T SNP BUB1 ENST00000302759 human ensembl 74_37 -1 known silent c.1575 p.S525 1.000 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors BUB1 HGNC ENSG00000169679 83 0 0 49 14 22.2222 LRP1B 0 genome.wustl.edu 37 2 141004675 141004675 + Missense_Mutation SNP T T G TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 2 141004675 141004675 T G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.13304 p.K4435T 0.998 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 62 0 0 31 10 24.3902 NEB 0 genome.wustl.edu 37 2 152529051 152529051 + Silent SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 2 152529051 152529051 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.4131 p.T1377 0.999 pfam_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 91 0 0 73 6 7.59494 NBAS 0 genome.wustl.edu 37 2 15542374 15542374 + Missense_Mutation SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 2 15542374 15542374 C T SNP NBAS ENST00000281513 human ensembl 74_37 -1 known missense c.2989 p.E997K 0.971 pfam_Sec39 pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 99 0 0 143 31 17.8161 ANKRD44 0 genome.wustl.edu 37 2 197865188 197865188 + Missense_Mutation SNP C C A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 2 197865188 197865188 C A SNP ANKRD44 ENST00000328737 human ensembl 74_37 -1 known missense c.2399 p.G800V 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD44 HGNC ENSG00000065413 77 0 0 67 9 11.8421 ALS2CR12 0 genome.wustl.edu 37 2 202216070 202216070 + Missense_Mutation SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 2 202216070 202216070 G A SNP ALS2CR12 ENST00000286190 human ensembl 74_37 -1 known missense c.58 p.R20W 0.838 NULL superfamily_t-SNARE - no_errors ALS2CR12 HGNC ENSG00000155749 70 0 0 42 48 53.3333 GDF7 0 genome.wustl.edu 37 2 20871023 20871023 + Silent SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 2 20871023 20871023 C T SNP GDF7 ENST00000272224 human ensembl 74_37 +1 known silent c.1191 p.I397 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF7 HGNC ENSG00000143869 53 0 0 36 20 35.7143 VWC2L 0 genome.wustl.edu 37 2 215279303 215279303 + Missense_Mutation SNP T T A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 2 215279303 215279303 T A SNP VWC2L ENST00000312504 human ensembl 74_37 +1 known missense c.386 p.F129Y 1.000 smart_VWF_C,pfscan_VWF_C smart_VWF_C,pfscan_VWF_C - no_errors VWC2L HGNC ENSG00000174453 24 0 0 22 4 15.3846 ASB1 0 genome.wustl.edu 37 2 239353036 239353036 + Missense_Mutation SNP G G T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 2 239353036 239353036 G T SNP ASB1 ENST00000264607 human ensembl 74_37 +1 known missense c.548 p.R183L 0.031 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB1 HGNC ENSG00000065802 49 0 0 59 29 32.9545 ITSN2 0 genome.wustl.edu 37 2 24480916 24480916 + Missense_Mutation SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 2 24480916 24480916 G A SNP ITSN2 ENST00000355123 human ensembl 74_37 -1 known missense c.2729 p.T910I 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 108 0 0 100 15 13.0435 FAM179A 0 genome.wustl.edu 37 2 29246051 29246051 + Silent SNP T T C TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 2 29246051 29246051 T C SNP FAM179A ENST00000379558 human ensembl 74_37 +1 known silent c.1611 p.T537 0.004 pfam_CLASP_N_dom,superfamily_ARM-type_fold pfam_CLASP_N_dom,superfamily_ARM-type_fold - no_errors FAM179A HGNC ENSG00000189350 16 0 0 9 3 25 FAM161A 0 genome.wustl.edu 37 2 62066655 62066655 + Missense_Mutation SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 2 62066655 62066655 C T SNP FAM161A ENST00000405894 human ensembl 74_37 -1 known missense c.1484 p.R495H 0.000 pfam_UPF0564 pfam_UPF0564 - no_errors FAM161A HGNC ENSG00000170264 109 0 0 70 23 24.7312 CD8B 0 genome.wustl.edu 37 2 87085225 87085225 + Missense_Mutation SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 2 87085225 87085225 C T SNP CD8B ENST00000331469 human ensembl 74_37 -1 known missense c.358 p.G120R 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CD8B HGNC ENSG00000172116 188 0 0 184 27 12.7962 MITD1 0 genome.wustl.edu 37 2 99797402 99797402 + Missense_Mutation SNP C C A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 2 99797402 99797402 C A SNP MITD1 ENST00000289359 human ensembl 74_37 -1 known missense c.43 p.A15S 0.981 pfam_MIT,smart_MIT pfam_MIT,smart_MIT - no_errors MITD1 HGNC ENSG00000158411 86 0 0 60 10 14.2857 C20orf26 0 genome.wustl.edu 37 20 20243713 20243713 + Silent SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 20 20243713 20243713 C T SNP C20orf26 ENST00000245957 human ensembl 74_37 +1 known silent c.2442 p.N814 0.041 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 126 0 0 99 71 41.7647 TSHZ2 0 genome.wustl.edu 37 20 51870644 51870644 + Missense_Mutation SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 20 51870644 51870644 G A SNP TSHZ2 ENST00000371497 human ensembl 74_37 +1 known missense c.647 p.R216Q 1.000 smart_Znf_C2H2-like superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 61 0 0 35 24 40.678 DIDO1 0 genome.wustl.edu 37 20 61512623 61512623 + Missense_Mutation SNP T T A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 20 61512623 61512623 T A SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.4685 p.Q1562L 1.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 74 0 0 86 14 14 DGCR14 0 genome.wustl.edu 37 22 19130142 19130142 + Silent SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 22 19130142 19130142 C T SNP DGCR14 ENST00000252137 human ensembl 74_37 -1 known silent c.309 p.V103 1.000 pfam_Nuclear_protein_DGCR14 pfam_Nuclear_protein_DGCR14 - no_errors DGCR14 HGNC ENSG00000100056 137 0 0 51 43 45.7447 DMC1 0 genome.wustl.edu 37 22 38962648 38962648 + Missense_Mutation SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 22 38962648 38962648 C T SNP DMC1 ENST00000216024 human ensembl 74_37 -1 known missense c.190 p.G64R 1.000 superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like,tigrfam_DMC1_rcmbase pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,pfam_Circ_KaiC/RadA,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,pfscan_RecA_monomer-monomer_interface,tigrfam_DMC1_rcmbase - no_errors DMC1 HGNC ENSG00000100206 61 0 0 17 15 46.875 SEMA5B 0 genome.wustl.edu 37 3 122630793 122630793 + Missense_Mutation SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 3 122630793 122630793 C T SNP SEMA5B ENST00000451055 human ensembl 74_37 -1 known missense c.3182 p.R1061H 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 33 0 0 11 13 54.1667 GYG1 0 genome.wustl.edu 37 3 148742051 148742051 + Missense_Mutation SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 3 148742051 148742051 G A SNP GYG1 ENST00000345003 human ensembl 74_37 +1 known missense c.820 p.V274I 0.000 NULL pfam_Glyco_trans_8 - no_errors GYG1 HGNC ENSG00000163754 93 0 0 32 53 62.3529 TNIK 0 genome.wustl.edu 37 3 170805248 170805248 + Silent SNP A A G TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 3 170805248 170805248 A G SNP TNIK ENST00000436636 human ensembl 74_37 -1 known silent c.2769 p.F923 0.087 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors TNIK HGNC ENSG00000154310 152 0 0 219 17 7.20339 ROBO2 0 genome.wustl.edu 37 3 77666773 77666773 + Nonsense_Mutation SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 3 77666773 77666773 C T SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known nonsense c.3403 p.R1135* 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 125 0 0 39 36 48 ANK2 0 genome.wustl.edu 37 4 114204000 114204000 + Missense_Mutation SNP A A G TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 4 114204000 114204000 A G SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.2051 p.K684R 0.999 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 70 0 0 31 23 42.5926 NPY2R 0 genome.wustl.edu 37 4 156135406 156135406 + Silent SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 4 156135406 156135406 G A SNP NPY2R ENST00000329476 human ensembl 74_37 +1 known silent c.315 p.P105 0.846 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPFF_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors NPY2R HGNC ENSG00000185149 73 0 0 24 21 46.6667 PDGFC 0 genome.wustl.edu 37 4 157771437 157771437 + Missense_Mutation SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 4 157771437 157771437 C T SNP PDGFC ENST00000502773 human ensembl 74_37 -1 known missense c.250 p.V84I 0.082 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_PDGF/VEGF_dom,superfamily_CUB_dom,smart_CUB_dom,smart_PDGF/VEGF_dom,pfscan_CUB_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFC HGNC ENSG00000145431 59 0 0 36 8 18.1818 MSMO1 0 genome.wustl.edu 37 4 166258981 166258981 + Missense_Mutation SNP A A G TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 4 166258981 166258981 A G SNP MSMO1 ENST00000261507 human ensembl 74_37 +1 known missense c.296 p.K99R 1.000 NULL pfam_Fatty_acid_hydroxylase - no_errors MSMO1 HGNC ENSG00000052802 93 0 0 55 4 6.77966 GPM6A 0 genome.wustl.edu 37 4 176622915 176622915 + Missense_Mutation SNP C C A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 4 176622915 176622915 C A SNP GPM6A ENST00000280187 human ensembl 74_37 -1 known missense c.41 p.C14F 1.000 pfam_Myelin_PLP pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP - no_errors GPM6A HGNC ENSG00000150625 112 0 0 36 11 23.4043 SHISA3 0 genome.wustl.edu 37 4 42403249 42403249 + Silent SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 4 42403249 42403249 G A SNP SHISA3 ENST00000319234 human ensembl 74_37 +1 known silent c.498 p.T166 1.000 NULL NULL - no_errors SHISA3 HGNC ENSG00000178343 176 0 0 60 63 51.2195 KCTD8 0 genome.wustl.edu 37 4 44449773 44449773 + Silent SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 4 44449773 44449773 G A SNP KCTD8 ENST00000360029 human ensembl 74_37 -1 known silent c.768 p.R256 0.993 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD8 HGNC ENSG00000183783 32 0 0 16 7 30.4348 CWH43 0 genome.wustl.edu 37 4 48993570 48993570 + Missense_Mutation SNP G G T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 4 48993570 48993570 G T SNP CWH43 ENST00000226432 human ensembl 74_37 +1 known missense c.335 p.W112L 1.000 NULL superfamily_Endo/exonuclease/phosphatase - no_errors CWH43 HGNC ENSG00000109182 147 1 0.675676 32 58 64.4444 DCUN1D4 0 genome.wustl.edu 37 4 52779533 52779533 + Silent SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 4 52779533 52779533 C T SNP DCUN1D4 ENST00000451288 human ensembl 74_37 +1 known silent c.930 p.L310 1.000 pfam_PONY_dom pfam_PONY_dom - no_errors DCUN1D4 HGNC ENSG00000109184 56 0 0 20 12 37.5 EPHA5 0 genome.wustl.edu 37 4 66356300 66356300 + Silent SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 4 66356300 66356300 G A SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known silent c.1197 p.N399 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 81 0 0 37 7 15.9091 APBB3 0 genome.wustl.edu 37 5 139940666 139940666 + Missense_Mutation SNP T T G TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 5 139940666 139940666 T G SNP APBB3 ENST00000356738 human ensembl 74_37 -1 known missense c.868 p.S290R 1.000 NULL pfam_PTB/PI_dom,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom - no_errors APBB3 HGNC ENSG00000113108 363 0 0 113 114 50.2203 PCDHB6 0 genome.wustl.edu 37 5 140531624 140531624 + Missense_Mutation SNP C C A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 5 140531624 140531624 C A SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.1786 p.Q596K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 112 0 0 35 42 54.5455 TRIM7 0 genome.wustl.edu 37 5 180622459 180622459 + Missense_Mutation SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 5 180622459 180622459 G A SNP TRIM7 ENST00000274773 human ensembl 74_37 -1 known missense c.1243 p.R415C 0.799 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM7 HGNC ENSG00000146054 23 0 0 13 5 27.7778 SPEF2 0 genome.wustl.edu 37 5 35667221 35667221 + Silent SNP A A G TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 5 35667221 35667221 A G SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known silent c.1215 p.K405 0.987 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 41 0 0 13 55 80.8824 GDNF 0 genome.wustl.edu 37 5 37834836 37834836 + Silent SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 5 37834836 37834836 C T SNP GDNF ENST00000326524 human ensembl 74_37 -1 known silent c.63 p.P21 1.000 pirsf_GDNF pfam_TGF-b_C,smart_TGF-b_C,pirsf_GDNF - no_errors GDNF HGNC ENSG00000168621 53 0 0 127 22 14.7651 EGFLAM 0 genome.wustl.edu 37 5 38258870 38258870 + Missense_Mutation SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 5 38258870 38258870 G A SNP EGFLAM ENST00000354891 human ensembl 74_37 +1 known missense c.14 p.R5Q 0.003 NULL pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 41 0 0 42 3 6.66667 ADAMTS16 0 genome.wustl.edu 37 5 5186212 5186212 + Missense_Mutation SNP T T A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 5 5186212 5186212 T A SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known missense c.811 p.Y271N 1.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 207 0 0 135 41 23.2955 SKIV2L2 0 genome.wustl.edu 37 5 54649063 54649063 + Missense_Mutation SNP A A G TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 5 54649063 54649063 A G SNP SKIV2L2 ENST00000230640 human ensembl 74_37 +1 known missense c.1499 p.N500S 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_C pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L2 HGNC ENSG00000039123 106 0 0 71 17 19.3182 SIM1 0 genome.wustl.edu 37 6 100897520 100897520 + Missense_Mutation SNP T T A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 6 100897520 100897520 T A SNP SIM1 ENST00000262901 human ensembl 74_37 -1 known missense c.404 p.E135V 1.000 pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors SIM1 HGNC ENSG00000112246 93 0 0 54 29 34.9398 RNF217 0 genome.wustl.edu 37 6 125402621 125402621 + Missense_Mutation SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 6 125402621 125402621 G A SNP RNF217 ENST00000560949 human ensembl 74_37 +1 known missense c.818 p.G273E 1.000 NULL pfam_Znf_C6HC,smart_Znf_C6HC - no_errors RNF217 HGNC ENSG00000146373 34 0 0 41 11 21.1538 ENPP1 0 genome.wustl.edu 37 6 132194115 132194115 + Missense_Mutation SNP A A C TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 6 132194115 132194115 A C SNP ENPP1 ENST00000360971 human ensembl 74_37 +1 known missense c.1490 p.K497T 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP1 HGNC ENSG00000197594 214 0 0 154 115 42.7509 SGK1 0 genome.wustl.edu 37 6 134494621 134494621 + Silent SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 6 134494621 134494621 G A SNP SGK1 ENST00000367858 human ensembl 74_37 -1 known silent c.597 p.I199 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors SGK1 HGNC ENSG00000118515 61 0 0 139 17 10.8974 TDRD6 0 genome.wustl.edu 37 6 46657611 46657611 + Silent SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 6 46657611 46657611 C T SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known silent c.1746 p.D582 0.009 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 176 0 0 179 14 7.25389 ACHE 0 genome.wustl.edu 37 7 100490818 100490818 + Missense_Mutation SNP G G T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 7 100490818 100490818 G T SNP ACHE ENST00000302913 human ensembl 74_37 -1 known missense c.1036 p.L346I 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors ACHE HGNC ENSG00000087085 42 0 0 57 4 6.55738 MUC17 0 genome.wustl.edu 37 7 100677488 100677488 + Missense_Mutation SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 7 100677488 100677488 G A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.2791 p.D931N 0.004 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 942 0 0 1005 87 7.96703 PSMC2 0 genome.wustl.edu 37 7 102994396 102994396 + Missense_Mutation SNP G G C TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 7 102994396 102994396 G C SNP PSMC2 ENST00000292644 human ensembl 74_37 +1 known missense c.99 p.L33F 1.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC2 HGNC ENSG00000161057 53 0 0 16 11 40.7407 ZNF777 0 genome.wustl.edu 37 7 149129715 149129715 + Missense_Mutation SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 7 149129715 149129715 C T SNP ZNF777 ENST00000247930 human ensembl 74_37 -1 known missense c.1648 p.E550K 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF777 HGNC ENSG00000196453 32 0 0 10 4 28.5714 TRIL 0 genome.wustl.edu 37 7 28996249 28996249 + RNA SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 7 28996249 28996249 C T SNP TRIL ENST00000322982 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors TRIL HGNC ENSG00000176734 34 0 0 36 6 14.2857 CCDC129 0 genome.wustl.edu 37 7 31690769 31690769 + Missense_Mutation SNP A A T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 7 31690769 31690769 A T SNP CCDC129 ENST00000451887 human ensembl 74_37 +1 known missense c.2675 p.E892V 0.926 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 105 0 0 116 25 17.7305 BMPER 0 genome.wustl.edu 37 7 34118544 34118544 + Missense_Mutation SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 7 34118544 34118544 C T SNP BMPER ENST00000297161 human ensembl 74_37 +1 known missense c.1154 p.T385M 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C - no_errors BMPER HGNC ENSG00000164619 174 0 0 136 52 27.6596 STARD3NL 0 genome.wustl.edu 37 7 38247172 38247172 + Missense_Mutation SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 7 38247172 38247172 C T SNP STARD3NL ENST00000009041 human ensembl 74_37 +1 known missense c.67 p.R23C 0.352 NULL pfam_MENTAL - no_errors STARD3NL HGNC ENSG00000010270 97 0 0 102 19 15.7025 SDK1 0 genome.wustl.edu 37 7 4002413 4002413 + Silent SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 7 4002413 4002413 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known silent c.1359 p.S453 0.543 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 40 0 0 28 13 31.7073 POLR2J4 0 genome.wustl.edu 37 7 43992390 43992390 + RNA SNP G G A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 7 43992390 43992390 G A SNP POLR2J4 ENST00000427076 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors POLR2J4 HGNC ENSG00000214783 29 0 0 24 6 20 TRPS1 0 genome.wustl.edu 37 8 116631899 116631899 + Missense_Mutation SNP T T G TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 8 116631899 116631899 T G SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.426 p.Q142H 0.996 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 91 0 0 79 27 25.4717 GPIHBP1 0 genome.wustl.edu 37 8 144297360 144297360 + Silent SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 8 144297360 144297360 C T SNP GPIHBP1 ENST00000330824 human ensembl 74_37 +1 known silent c.522 p.A174 0.000 NULL pfam_LY6_UPAR - no_errors GPIHBP1 HGNC ENSG00000182851 21 0 0 36 6 14.2857 HR 0 genome.wustl.edu 37 8 21983209 21983209 + Missense_Mutation SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 8 21983209 21983209 C T SNP HR ENST00000381418 human ensembl 74_37 -1 known missense c.1442 p.G481E 0.364 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HR HGNC ENSG00000168453 34 0 0 10 5 33.3333 PREX2 0 genome.wustl.edu 37 8 68939478 68939478 + Missense_Mutation SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 8 68939478 68939478 C T SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.463 p.R155W 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 109 0 0 73 55 42.9688 PI15 0 genome.wustl.edu 37 8 75737570 75737570 + Missense_Mutation SNP A A T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 8 75737570 75737570 A T SNP PI15 ENST00000260113 human ensembl 74_37 +1 known missense c.86 p.D29V 1.000 NULL pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors PI15 HGNC ENSG00000137558 188 0 0 111 126 53.1646 ZNF618 0 genome.wustl.edu 37 9 116811236 116811236 + Missense_Mutation SNP A A C TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 9 116811236 116811236 A C SNP ZNF618 ENST00000374126 human ensembl 74_37 +1 known missense c.1654 p.T552P 1.000 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF618 HGNC ENSG00000157657 16 0 0 15 4 21.0526 FAM129B 0 genome.wustl.edu 37 9 130279138 130279138 + Missense_Mutation SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 9 130279138 130279138 C T SNP FAM129B ENST00000373312 human ensembl 74_37 -1 known missense c.971 p.R324Q 1.000 NULL pfscan_Pleckstrin_homology - no_errors FAM129B HGNC ENSG00000136830 453 0 0 257 143 35.75 PPP1R26 0 genome.wustl.edu 37 9 138377878 138377878 + Missense_Mutation SNP G G T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 9 138377878 138377878 G T SNP PPP1R26 ENST00000356818 human ensembl 74_37 +1 known missense c.1522 p.A508S 0.000 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 97 0 0 74 24 24.4898 IFNA5 0 genome.wustl.edu 37 9 21304767 21304767 + Silent SNP T T A TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 9 21304767 21304767 T A SNP IFNA5 ENST00000259555 human ensembl 74_37 -1 known silent c.489 p.A163 1.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA5 HGNC ENSG00000147873 354 0 0 133 133 50 FRMD3 0 genome.wustl.edu 37 9 85863158 85863158 + Missense_Mutation SNP T T G TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 9 85863158 85863158 T G SNP FRMD3 ENST00000304195 human ensembl 74_37 -1 known missense c.1469 p.E490A 1.000 NULL pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FRMD3 HGNC ENSG00000172159 193 0 0 124 21 14.4828 DOCK11 0 genome.wustl.edu 37 X 117752692 117752692 + Splice_Site SNP G G C TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 X 117752692 117752692 G C SNP DOCK11 ENST00000276202 human ensembl 74_37 +1 known splice_site c.3471+1 e31+1 1.000 - - - no_errors DOCK11 HGNC ENSG00000147251 70 0 0 68 11 13.9241 MAGEA3 0 genome.wustl.edu 37 X 151935401 151935401 + Missense_Mutation SNP G G C TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 X 151935401 151935401 G C SNP MAGEA3 ENST00000370278 human ensembl 74_37 -1 known missense c.766 p.L256V 0.002 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA3 HGNC ENSG00000221867 271 0 0 207 27 11.5385 MXRA5 0 genome.wustl.edu 37 X 3239828 3239828 + Missense_Mutation SNP T T C TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 X 3239828 3239828 T C SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.3898 p.R1300G 0.001 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 181 0 0 75 5 6.25 MSN 0 genome.wustl.edu 37 X 64957071 64957071 + Missense_Mutation SNP A A C TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 X 64957071 64957071 A C SNP MSN ENST00000360270 human ensembl 74_37 +1 known missense c.1122 p.E374D 1.000 pirsf_ERM,pfam_ERM_C_dom pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors MSN HGNC ENSG00000147065 30 0 0 7 12 63.1579 VCX3B 0 genome.wustl.edu 37 X 8433819 8433819 + Missense_Mutation SNP C C T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 X 8433819 8433819 C T SNP VCX3B ENST00000444481 human ensembl 74_37 +1 known missense c.136 p.R46C 0.000 NULL NULL - no_errors VCX3B HGNC ENSG00000205642 12 0 0 3 5 62.5 DISP1 0 genome.wustl.edu 37 1 223178997 223178998 + Frame_Shift_Del DEL AG AG - TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 1 223178997 223178998 AG - DEL DISP1 ENST00000284476 human ensembl 74_37 +1 novel frame_shift_del c.4258_4259 p.D1421fs 0.006:0.778 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 121 0 0 82 30 26.7857 SENP1 0 genome.wustl.edu 37 12 48458896 48458896 + Frame_Shift_Del DEL T T - TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 12 48458896 48458896 T - DEL SENP1 ENST00000004980 human ensembl 74_37 -1 known frame_shift_del c.1227 p.G410fs 0.206 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP1 HGNC ENSG00000079387 41 0 0 21 9 30 SGK494 0 genome.wustl.edu 37 17 26940497 26940498 + Frame_Shift_Del DEL CT CT - TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 17 26940497 26940498 CT - DEL SGK494 ENST00000301037 human ensembl 74_37 -1 known frame_shift_del c.285_284 p.E95fs 0.992:1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors SGK494 Clone_based_vega_gene ENSG00000167524 113 0 0 52 45 46.3918 ENSG00000266156 0 genome.wustl.edu 37 19 20988370 20988370 + RNA DEL T T - TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 19 20988370 20988370 T - DEL ENSG00000266156 ENST00000582722 human ensembl 74_37 +1 novel rna NULL NULL 0.001 - - - no_errors AC010329.1 Clone_based_ensembl_gene ENSG00000266156 13 0 0 8 5 38.4615 CENPO 0 genome.wustl.edu 37 2 25038399 25038410 + In_Frame_Del DEL GTGTCTGCATCA GTGTCTGCATCA - TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 GTGTCTGCATCA GTGTCTGCATCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 2 25038399 25038410 GTGTCTGCATCA - DEL CENPO ENST00000260662 human ensembl 74_37 +1 known in_frame_del c.368_379 p.VCIS124in_frame_del 0.990:0.414:0.474:0.900:0.903:0.995:1.000:1.000:1.000:1.000:1.000:1.000 pfam_CENP-O pfam_CENP-O - no_errors CENPO HGNC ENSG00000138092 119 0 0 120 41 25.4658 TNIK 0 genome.wustl.edu 37 3 170912366 170912366 + Frame_Shift_Del DEL C C - TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 3 170912366 170912366 C - DEL TNIK ENST00000436636 human ensembl 74_37 -1 known frame_shift_del c.365 p.G122fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors TNIK HGNC ENSG00000154310 242 0 0 451 35 7.20165 PARK2 0 genome.wustl.edu 37 6 161990446 161990447 + Frame_Shift_Ins INS - - T TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 6 161990446 161990447 - T INS PARK2 ENST00000366898 human ensembl 74_37 -1 known frame_shift_ins c.874_873 p.G291fs 1.000:1.000 pirsf_Parkin pfam_Ubiquitin_dom,pfam_Znf_C6HC,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin - no_errors PARK2 HGNC ENSG00000185345 90 0 0 36 25 40.9836 PRSS3P2 0 genome.wustl.edu 37 7 142482280 142482280 + RNA DEL T T - TCGA-BR-A4QI-01A-12D-A25D-08 TCGA-BR-A4QI-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 699db1f3-e03d-4f08-89c9-40a77a78c2f1 9e553223-b1fc-43e1-b357-3f22bc1e89f5 7 142482280 142482280 T - DEL PRSS3P2 ENST00000603901 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PRSS3P2 HGNC ENSG00000250606 60 0 0 17 2 10.5263