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 TAS1R3 0 genome.wustl.edu 37 1 1267838 1267838 + Silent SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 1 1267838 1267838 C T SNP TAS1R3 ENST00000339381 human ensembl 74_37 +1 known silent c.927 p.V309 0.009 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R3 HGNC ENSG00000169962 34 0 0 34 5 12.8205 ENSG00000203849 0 genome.wustl.edu 37 1 142713705 142713705 + RNA SNP C C G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 1 142713705 142713705 C G SNP ENSG00000203849 ENST00000369381 human ensembl 74_37 -1 known rna NULL NULL 0.038 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 19 0 0 53 11 17.1875 LCE2A 0 genome.wustl.edu 37 1 152671675 152671675 + Missense_Mutation SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 1 152671675 152671675 C T SNP LCE2A ENST00000368779 human ensembl 74_37 +1 known missense c.298 p.H100Y 0.001 NULL NULL - no_errors LCE2A HGNC ENSG00000187173 162 0 0 113 14 11.0236 FCRL3 0 genome.wustl.edu 37 1 157668421 157668421 + Splice_Site SNP T T G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 1 157668421 157668421 T G SNP FCRL3 ENST00000492769 human ensembl 74_37 -1 known splice_site c.53-2 e3-2 0.048 - - - no_errors FCRL3 HGNC ENSG00000160856 57 0 0 60 5 7.69231 CASP9 0 genome.wustl.edu 37 1 15831220 15831220 + Missense_Mutation SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 1 15831220 15831220 C T SNP CASP9 ENST00000333868 human ensembl 74_37 -1 known missense c.754 p.G252S 1.000 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20 pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP9 HGNC ENSG00000132906 92 0 0 92 11 10.6796 OR10X1 0 genome.wustl.edu 37 1 158549445 158549445 + Missense_Mutation SNP A A G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 1 158549445 158549445 A G SNP OR10X1 ENST00000368150 human ensembl 74_37 -1 known missense c.245 p.L82P 0.998 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 OR10X1 HGNC ENSG00000186400 74 0 0 73 18 19.7802 OR6N2 0 genome.wustl.edu 37 1 158746982 158746982 + Nonsense_Mutation SNP A A T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 1 158746982 158746982 A T SNP OR6N2 ENST00000339258 human ensembl 74_37 -1 known nonsense c.444 p.C148* 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6N2 HGNC ENSG00000188340 99 0 0 80 9 10.1124 ATP1A4 0 genome.wustl.edu 37 1 160136459 160136459 + Missense_Mutation SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 1 160136459 160136459 G A SNP ATP1A4 ENST00000368081 human ensembl 74_37 +1 known missense c.1189 p.A397T 1.000 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A4 HGNC ENSG00000132681 150 0 0 95 24 20.1681 SPEN 0 genome.wustl.edu 37 1 16262482 16262482 + Silent SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 1 16262482 16262482 C T SNP SPEN ENST00000375759 human ensembl 74_37 +1 known silent c.9747 p.P3249 0.005 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 41 0 0 19 33 63.4615 TNR 0 genome.wustl.edu 37 1 175334354 175334354 + Silent SNP A A G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 1 175334354 175334354 A G SNP TNR ENST00000263525 human ensembl 74_37 -1 known silent c.2379 p.T793 0.993 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 52 0 0 56 5 8.19672 LAMC1 0 genome.wustl.edu 37 1 183099510 183099510 + Silent SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 1 183099510 183099510 G A SNP LAMC1 ENST00000258341 human ensembl 74_37 +1 known silent c.3312 p.Q1104 1.000 NULL pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 95 0 0 81 15 15.625 BRINP3 0 genome.wustl.edu 37 1 190067640 190067640 + Silent SNP T T C TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 1 190067640 190067640 T C SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known silent c.1809 p.L603 0.878 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 256 0 0 296 29 8.92308 RPS10P7 0 genome.wustl.edu 37 1 201489416 201489416 + RNA SNP C C G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 1 201489416 201489416 C G SNP RPS10P7 ENST00000441932 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RPS10P7 HGNC ENSG00000223396 36 0 0 37 4 9.7561 RYR2 0 genome.wustl.edu 37 1 237993784 237993784 + RNA SNP T T G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 1 237993784 237993784 T G SNP RYR2 ENST00000462585 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RYR2 HGNC ENSG00000198626 50 0 0 59 9 13.2353 ZP4 0 genome.wustl.edu 37 1 238053765 238053765 + Silent SNP A A T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 1 238053765 238053765 A T SNP ZP4 ENST00000366570 human ensembl 74_37 -1 known silent c.171 p.A57 0.053 NULL pfam_ZP_dom,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP4 HGNC ENSG00000116996 71 0 0 53 5 8.62069 OR2L5 0 genome.wustl.edu 37 1 248185512 248185512 + Missense_Mutation SNP A A G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 1 248185512 248185512 A G SNP OR2L5 ENST00000355281 human ensembl 74_37 +1 known missense c.263 p.N88S 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L5 HGNC ENSG00000197454 159 0 0 193 24 11.0599 C1orf174 0 genome.wustl.edu 37 1 3807161 3807161 + Missense_Mutation SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 1 3807161 3807161 C T SNP C1orf174 ENST00000361605 human ensembl 74_37 -1 known missense c.590 p.R197Q 0.935 NULL NULL - no_errors C1orf174 HGNC ENSG00000198912 103 1 0.961538 55 58 51.3274 ERI3 0 genome.wustl.edu 37 1 44687311 44687311 + Silent SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 1 44687311 44687311 G A SNP ERI3 ENST00000372257 human ensembl 74_37 -1 known silent c.933 p.D311 1.000 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ERI3 HGNC ENSG00000117419 67 0 0 36 6 14.2857 ELAVL4 0 genome.wustl.edu 37 1 50659546 50659546 + Missense_Mutation SNP A A G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 1 50659546 50659546 A G SNP ELAVL4 ENST00000371821 human ensembl 74_37 +1 known missense c.479 p.Y160C 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL4 HGNC ENSG00000162374 153 0 0 155 9 5.4878 LPHN2 0 genome.wustl.edu 37 1 82456476 82456476 + Missense_Mutation SNP G G C TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 1 82456476 82456476 G C SNP LPHN2 ENST00000370717 human ensembl 74_37 +1 known missense c.4072 p.V1358L 1.000 pfam_GPCR_2_latrophilin_rcpt_C pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors LPHN2 HGNC ENSG00000117114 123 0 0 103 11 9.64912 TGFBR3 0 genome.wustl.edu 37 1 92195368 92195368 + Missense_Mutation SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 1 92195368 92195368 G A SNP TGFBR3 ENST00000212355 human ensembl 74_37 -1 known missense c.731 p.P244L 1.000 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors TGFBR3 HGNC ENSG00000069702 121 0 0 94 5 5.05051 PNLIPRP2 0 genome.wustl.edu 37 10 118385511 118385511 + Missense_Mutation SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 10 118385511 118385511 C T SNP PNLIPRP2 ENST00000537242 human ensembl 74_37 +1 known missense c.259 p.R87C 1.000 pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,prints_Lipase_panc,prints_Lipase pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_Lipase_panc,prints_Lipase,pfscan_PLAT/LH2_dom - no_errors PNLIPRP2 HGNC ENSG00000165862 44 0 0 41 5 10.8696 MCMBP 0 genome.wustl.edu 37 10 121617037 121617037 + RNA SNP T T G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 10 121617037 121617037 T G SNP MCMBP ENST00000495407 human ensembl 74_37 -1 known rna NULL NULL 0.359 - - - no_errors MCMBP HGNC ENSG00000197771 13 0 0 10 7 41.1765 C10orf90 0 genome.wustl.edu 37 10 128193306 128193306 + Missense_Mutation SNP C C A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 10 128193306 128193306 C A SNP C10orf90 ENST00000544758 human ensembl 74_37 -1 known missense c.754 p.V252L 0.003 NULL NULL - no_errors C10orf90 HGNC ENSG00000154493 156 0 0 74 4 5.12821 SKIDA1 0 genome.wustl.edu 37 10 21804403 21804403 + Silent SNP T T C TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 10 21804403 21804403 T C SNP SKIDA1 ENST00000449193 human ensembl 74_37 -1 known silent c.2349 p.T783 0.995 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors SKIDA1 HGNC ENSG00000180592 100 0 0 93 48 34.0426 PCDH15 0 genome.wustl.edu 37 10 55721560 55721560 + Missense_Mutation SNP T T A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 10 55721560 55721560 T A SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.2961 p.R987S 0.970 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 59 0 0 81 8 8.98876 ZNF365 0 genome.wustl.edu 37 10 64415333 64415333 + Silent SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 10 64415333 64415333 G A SNP ZNF365 ENST00000395251 human ensembl 74_37 +1 known silent c.333 p.S111 0.025 NULL NULL - no_errors ZNF365 HGNC ENSG00000138311 90 0 0 81 5 5.81395 STOX1 0 genome.wustl.edu 37 10 70645465 70645465 + Missense_Mutation SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 10 70645465 70645465 C T SNP STOX1 ENST00000298596 human ensembl 74_37 +1 known missense c.1913 p.P638L 0.000 NULL pfam_Storkhead-box_winged-helix - no_errors STOX1 HGNC ENSG00000165730 130 0 0 106 15 12.3967 CDH23 0 genome.wustl.edu 37 10 73269927 73269927 + Silent SNP T T C TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 10 73269927 73269927 T C SNP CDH23 ENST00000461841 human ensembl 74_37 +1 known silent c.369 p.F123 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 111 0 0 67 10 12.987 LRIT1 0 genome.wustl.edu 37 10 85991896 85991896 + Missense_Mutation SNP C C G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 10 85991896 85991896 C G SNP LRIT1 ENST00000372105 human ensembl 74_37 -1 known missense c.1659 p.Q553H 0.002 NULL 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 64 0 0 34 7 17.0732 GRID1 0 genome.wustl.edu 37 10 87966203 87966203 + Silent SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 10 87966203 87966203 G A SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known silent c.438 p.P146 0.004 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 114 0 0 33 28 45.9016 MYOF 0 genome.wustl.edu 37 10 95119649 95119649 + Nonsense_Mutation SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 10 95119649 95119649 G A SNP MYOF ENST00000359263 human ensembl 74_37 -1 known nonsense c.3061 p.R1021* 0.998 smart_Peroxin/Ferlin pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors MYOF HGNC ENSG00000138119 126 0 0 98 8 7.54717 IL18 0 genome.wustl.edu 37 11 112014479 112014479 + Missense_Mutation SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 11 112014479 112014479 C T SNP IL18 ENST00000280357 human ensembl 74_37 -1 known missense c.422 p.S141N 0.000 pfam_IL-1,superfamily_Cytokine_IL1-like,pirsf_IL-18 pfam_IL-1,superfamily_Cytokine_IL1-like,pirsf_IL-18,prints_IL-18 - no_errors IL18 HGNC ENSG00000150782 24 0 0 42 7 14.2857 OR8D2 0 genome.wustl.edu 37 11 124189480 124189480 + Missense_Mutation SNP A A C TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 11 124189480 124189480 A C SNP OR8D2 ENST00000357438 human ensembl 74_37 -1 known missense c.614 p.V205G 0.011 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D2 HGNC ENSG00000197263 71 0 0 111 9 7.5 ODF3 0 genome.wustl.edu 37 11 197612 197612 + Missense_Mutation SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 11 197612 197612 G A SNP ODF3 ENST00000325113 human ensembl 74_37 +1 known missense c.161 p.R54H 0.744 NULL pfam_SHIPPO-rpt - no_errors ODF3 HGNC ENSG00000177947 95 0 0 52 6 10.3448 SLC17A6 0 genome.wustl.edu 37 11 22391671 22391671 + Missense_Mutation SNP T T G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 11 22391671 22391671 T G SNP SLC17A6 ENST00000263160 human ensembl 74_37 +1 known missense c.978 p.F326L 0.992 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 36 0 0 42 12 22.2222 OR9G4 0 genome.wustl.edu 37 11 56511209 56511209 + Missense_Mutation SNP A A C TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 11 56511209 56511209 A C SNP OR9G4 ENST00000302957 human ensembl 74_37 -1 known missense c.79 p.F27V 0.978 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9G4 HGNC ENSG00000172457 83 0 0 94 5 5.05051 DLG2 0 genome.wustl.edu 37 11 83641522 83641522 + Missense_Mutation SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 11 83641522 83641522 G A SNP DLG2 ENST00000376104 human ensembl 74_37 -1 known missense c.1345 p.P449S 1.000 pfam_PDZ_assoc,pirsf_M-assoc_guanylate_kinase pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG2 HGNC ENSG00000150672 93 0 0 72 6 7.69231 DNAH10 0 genome.wustl.edu 37 12 124359954 124359954 + Silent SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 12 124359954 124359954 G A SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known silent c.7761 p.S2587 0.001 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 42 0 0 55 11 16.6667 COL4A1 0 genome.wustl.edu 37 13 110829307 110829307 + Missense_Mutation SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 13 110829307 110829307 G A SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known missense c.2794 p.P932S 0.964 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 101 0 0 81 8 8.98876 PCDH17 0 genome.wustl.edu 37 13 58207332 58207332 + Missense_Mutation SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 13 58207332 58207332 G A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.652 p.G218S 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 PCDH17 HGNC ENSG00000118946 82 0 0 65 7 9.72222 PCDH20 0 genome.wustl.edu 37 13 61987973 61987973 + Missense_Mutation SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 13 61987973 61987973 C T SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known missense c.259 p.E87K 0.147 pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 43 0 0 8 7 46.6667 MIR323B 0 genome.wustl.edu 37 14 101522556 101522556 + RNA SNP T T C TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 14 101522556 101522556 T C SNP MIR323B ENST00000385269 human ensembl 74_37 +1 known rna NULL NULL 0.109 - - - no_errors MIR323B HGNC ENSG00000208004 59 0 0 35 2 5.40541 MYH7 0 genome.wustl.edu 37 14 23899793 23899793 + Silent SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 14 23899793 23899793 G A SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known silent c.975 p.D325 0.867 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 38 0 0 15 8 34.7826 AKAP6 0 genome.wustl.edu 37 14 33046439 33046439 + Silent SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 14 33046439 33046439 G A SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known silent c.2460 p.E820 1.000 smart_Spectrin/alpha-actinin smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 116 0 0 108 13 10.7438 ENSG00000259596 0 genome.wustl.edu 37 15 22751806 22751806 + RNA SNP A A G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 15 22751806 22751806 A G SNP ENSG00000259596 ENST00000560026 human ensembl 74_37 -1 known rna NULL NULL 0.161 - - - no_errors RP11-566K19.3 Clone_based_vega_gene ENSG00000259596 73 0 0 41 18 30.5085 SEMA6D 0 genome.wustl.edu 37 15 48055278 48055278 + Missense_Mutation SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 15 48055278 48055278 G A SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known missense c.724 p.V242I 0.999 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6D HGNC ENSG00000137872 27 0 0 24 6 20 FBN1 0 genome.wustl.edu 37 15 48782113 48782113 + Missense_Mutation SNP T T C TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 15 48782113 48782113 T C SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.3017 p.E1006G 0.997 pfam_TB_dom,superfamily_TB_dom,pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 134 0 0 89 18 16.8224 PLEKHO2 0 genome.wustl.edu 37 15 65153690 65153690 + Silent SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 15 65153690 65153690 G A SNP PLEKHO2 ENST00000323544 human ensembl 74_37 +1 known silent c.399 p.K133 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHO2 HGNC ENSG00000241839 19 0 0 8 3 27.2727 LOC729739 0 genome.wustl.edu 37 15 74654248 74654248 + RNA SNP T T G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 15 74654248 74654248 T G SNP LOC729739 ENST00000562009 human ensembl 74_37 +1 known rna NULL NULL 0.863 - - - no_errors CTD-2311M21.2 Clone_based_vega_gene ENSG00000260266 94 0 0 96 21 17.9487 PHKG2 0 genome.wustl.edu 37 16 30768205 30768205 + Silent SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 16 30768205 30768205 G A SNP PHKG2 ENST00000563588 human ensembl 74_37 +1 known silent c.1008 p.L336 0.798 superfamily_Kinase-like_dom,prints_Phosph_kin_gamma 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,prints_Phosph_kin_gamma,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PHKG2 HGNC ENSG00000156873 207 0 0 102 38 27.1429 LPCAT2 0 genome.wustl.edu 37 16 55608610 55608610 + Missense_Mutation SNP A A T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 16 55608610 55608610 A T SNP LPCAT2 ENST00000262134 human ensembl 74_37 +1 known missense c.1283 p.N428I 1.000 pfscan_EF_hand_dom pfam_EF_hand_dom,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors LPCAT2 HGNC ENSG00000087253 100 0 0 64 13 16.8831 TMEM231 0 genome.wustl.edu 37 16 75574030 75574030 + Silent SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 16 75574030 75574030 C T SNP TMEM231 ENST00000568377 human ensembl 74_37 -1 known silent c.900 p.V300 1.000 pfam_TMEM231 pfam_TMEM231 - no_errors TMEM231 HGNC ENSG00000205084 29 0 0 33 3 8.33333 OR1D4 0 genome.wustl.edu 37 17 3144532 3144532 + RNA SNP C C A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 17 3144532 3144532 C A SNP OR1D4 ENST00000531680 human ensembl 74_37 +1 known rna NULL NULL 0.130 - - - no_errors OR1D4 HGNC ENSG00000255095 38 0 0 29 5 14.7059 DHX58 0 genome.wustl.edu 37 17 40257163 40257163 + Missense_Mutation SNP T T C TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 17 40257163 40257163 T C SNP DHX58 ENST00000251642 human ensembl 74_37 -1 known missense c.1274 p.Q425R 0.272 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX58 HGNC ENSG00000108771 42 0 0 35 3 7.89474 CDC27 0 genome.wustl.edu 37 17 45234367 45234367 + Missense_Mutation SNP A A T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 17 45234367 45234367 A T SNP CDC27 ENST00000531206 human ensembl 74_37 -1 known missense c.754 p.S252T 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC27 HGNC ENSG00000004897 57 0 0 59 4 6.34921 TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 17 7578406 7578406 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.524 p.R175H 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 132 1 0.75188 34 28 45.1613 CNTROB 0 genome.wustl.edu 37 17 7843053 7843053 + Silent SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 17 7843053 7843053 C T SNP CNTROB ENST00000380262 human ensembl 74_37 +1 known silent c.1150 p.L384 0.252 NULL NULL - no_errors CNTROB HGNC ENSG00000170037 84 0 0 46 5 9.80392 CCDC178 0 genome.wustl.edu 37 18 30926368 30926368 + Missense_Mutation SNP C C G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 18 30926368 30926368 C G SNP CCDC178 ENST00000406524 human ensembl 74_37 -1 known missense c.465 p.K155N 0.411 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 47 0 0 47 17 26.5625 ZNF625 0 genome.wustl.edu 37 19 12256938 12256938 + Missense_Mutation SNP C C A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 19 12256938 12256938 C A SNP ZNF625 ENST00000439556 human ensembl 74_37 -1 known missense c.293 p.R98L 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF625 HGNC ENSG00000257591 74 0 0 70 7 9.09091 ZNF208 0 genome.wustl.edu 37 19 22156673 22156673 + Missense_Mutation SNP T T G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 19 22156673 22156673 T G SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.1163 p.K388T 0.006 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 36 0 0 50 5 9.09091 ZNF729 0 genome.wustl.edu 37 19 22497988 22497988 + Missense_Mutation SNP A A G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 19 22497988 22497988 A G SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel missense c.1769 p.H590R 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF729 HGNC ENSG00000196350 13 0 0 23 8 25.8065 PSG11 0 genome.wustl.edu 37 19 43523024 43523024 + Missense_Mutation SNP A A G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 19 43523024 43523024 A G SNP PSG11 ENST00000320078 human ensembl 74_37 -1 known missense c.607 p.F203L 0.022 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG11 HGNC ENSG00000243130 464 0 0 446 45 9.16497 HAS1 0 genome.wustl.edu 37 19 52222534 52222534 + Silent SNP C C A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 19 52222534 52222534 C A SNP HAS1 ENST00000601714 human ensembl 74_37 -1 known silent c.648 p.A216 0.998 pfam_Glyco_trans_2 pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS1 HGNC ENSG00000105509 84 0 0 40 6 13.0435 ZNF845 0 genome.wustl.edu 37 19 53855529 53855529 + Missense_Mutation SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 19 53855529 53855529 G A SNP ZNF845 ENST00000458035 human ensembl 74_37 +1 known missense c.1601 p.R534Q 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF845 HGNC ENSG00000213799 68 0 0 77 9 10.4651 MUC16 0 genome.wustl.edu 37 19 9010988 9010988 + Missense_Mutation SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 19 9010988 9010988 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.38930 p.S12977F 0.003 smart_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 142 0 0 128 10 7.24638 DPP10 0 genome.wustl.edu 37 2 116538507 116538507 + Missense_Mutation SNP A A C TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 2 116538507 116538507 A C SNP DPP10 ENST00000393147 human ensembl 74_37 +1 known missense c.1431 p.E477D 0.972 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 37 0 0 79 5 5.95238 ACVR2A 0 genome.wustl.edu 37 2 148602741 148602741 + Nonsense_Mutation SNP T T A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 2 148602741 148602741 T A SNP ACVR2A ENST00000241416 human ensembl 74_37 +1 known nonsense c.20 p.L7* 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 124 0 0 44 23 34.3284 MAP2 0 genome.wustl.edu 37 2 210560980 210560980 + Silent SNP T T C TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 2 210560980 210560980 T C SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known silent c.4086 p.S1362 0.345 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 135 0 0 107 7 6.14035 WNT10A 0 genome.wustl.edu 37 2 219746932 219746932 + Missense_Mutation SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 2 219746932 219746932 C T SNP WNT10A ENST00000258411 human ensembl 74_37 +1 known missense c.163 p.L55F 1.000 NULL pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt10 - no_errors WNT10A HGNC ENSG00000135925 88 0 0 41 16 28.0702 POLR1A 0 genome.wustl.edu 37 2 86315780 86315780 + Silent SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 2 86315780 86315780 G A SNP POLR1A ENST00000263857 human ensembl 74_37 -1 known silent c.639 p.S213 0.008 pfam_RNA_pol_Rpb1_1 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 107 0 0 63 5 7.35294 PTCD3 0 genome.wustl.edu 37 2 86364655 86364655 + Silent SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 2 86364655 86364655 C T SNP PTCD3 ENST00000254630 human ensembl 74_37 +1 known silent c.2043 p.S681 0.762 NULL NULL - no_errors PTCD3 HGNC ENSG00000132300 58 0 0 59 5 7.8125 SIRPB2 0 genome.wustl.edu 37 20 1457910 1457910 + Missense_Mutation SNP C C A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 20 1457910 1457910 C A SNP SIRPB2 ENST00000537284 human ensembl 74_37 -1 known missense c.518 p.G173V 0.001 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors SIRPB2 HGNC ENSG00000196209 82 0 0 79 5 5.95238 ADRA1D 0 genome.wustl.edu 37 20 4228874 4228874 + Missense_Mutation SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 20 4228874 4228874 C T SNP ADRA1D ENST00000379453 human ensembl 74_37 -1 known missense c.731 p.R244H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_ADRA1D_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,pfscan_GPCR_Rhodpsn_7TM - no_errors ADRA1D HGNC ENSG00000171873 17 0 0 15 4 21.0526 SULF2 0 genome.wustl.edu 37 20 46290516 46290516 + Splice_Site SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 20 46290516 46290516 C T SNP SULF2 ENST00000359930 human ensembl 74_37 -1 known splice_site c.2494+1 e17+1 1.000 - - - no_errors SULF2 HGNC ENSG00000196562 157 0 0 177 15 7.8125 SULF2 0 genome.wustl.edu 37 20 46331299 46331299 + Silent SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 20 46331299 46331299 G A SNP SULF2 ENST00000359930 human ensembl 74_37 -1 known silent c.531 p.N177 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF2 HGNC ENSG00000196562 63 0 0 54 6 10 RBBP8NL 0 genome.wustl.edu 37 20 60989194 60989194 + Missense_Mutation SNP C C A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 20 60989194 60989194 C A SNP RBBP8NL ENST00000252998 human ensembl 74_37 -1 known missense c.1213 p.A405S 0.001 NULL pfam_CtIP_N - no_errors RBBP8NL HGNC ENSG00000130701 27 0 0 21 2 8.69565 HAO1 0 genome.wustl.edu 37 20 7915153 7915153 + Silent SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 20 7915153 7915153 G A SNP HAO1 ENST00000378789 human ensembl 74_37 -1 known silent c.267 p.D89 0.946 pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN pfam_FMN-dep_DH,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN - no_errors HAO1 HGNC ENSG00000101323 185 1 0.537634 141 9 6 KCNE1 0 genome.wustl.edu 37 21 35821821 35821821 + Missense_Mutation SNP T T C TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 21 35821821 35821821 T C SNP KCNE1 ENST00000337385 human ensembl 74_37 -1 known missense c.112 p.S38G 0.000 pfam_K_chnl_volt-dep_bsu_KCNE,prints_K_chnl_volt-dep_bsu_KCNE1 pfam_K_chnl_volt-dep_bsu_KCNE,prints_K_chnl_volt-dep_bsu_KCNE1,prints_K_chnl_volt-dep_bsu_KCNE - no_errors KCNE1 HGNC ENSG00000180509 105 1 0.943396 49 4 7.54717 ADARB1 0 genome.wustl.edu 37 21 46602544 46602544 + Missense_Mutation SNP A A G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 21 46602544 46602544 A G SNP ADARB1 ENST00000360697 human ensembl 74_37 +1 known missense c.1123 p.T375A 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,superfamily_Cytokine_IL1-like,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADARB1 HGNC ENSG00000197381 48 0 0 42 8 16 CACNA1I 0 genome.wustl.edu 37 22 40037148 40037148 + Missense_Mutation SNP C C A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 22 40037148 40037148 C A SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known missense c.1017 p.N339K 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 129 0 0 45 24 34.7826 TTLL12 0 genome.wustl.edu 37 22 43567876 43567876 + Silent SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 22 43567876 43567876 G A SNP TTLL12 ENST00000216129 human ensembl 74_37 -1 known silent c.1524 p.Y508 0.237 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL12 HGNC ENSG00000100304 55 0 0 32 3 8.57143 GPR149 0 genome.wustl.edu 37 3 154146457 154146457 + Silent SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 3 154146457 154146457 C T SNP GPR149 ENST00000389740 human ensembl 74_37 -1 known silent c.948 p.A316 0.038 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR149 HGNC ENSG00000174948 225 0 0 220 21 8.71369 FXR1 0 genome.wustl.edu 37 3 180666236 180666236 + Missense_Mutation SNP T T A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 3 180666236 180666236 T A SNP FXR1 ENST00000357559 human ensembl 74_37 +1 known missense c.372 p.N124K 1.000 NULL pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,superfamily_NA-bd_OB-fold,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR1 HGNC ENSG00000114416 40 0 0 66 5 7.04225 ZNF860 0 genome.wustl.edu 37 3 32031024 32031024 + Silent SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 3 32031024 32031024 C T SNP ZNF860 ENST00000360311 human ensembl 74_37 +1 known silent c.453 p.I151 0.722 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF860 HGNC ENSG00000197385 88 0 0 95 6 5.94059 SCLT1 0 genome.wustl.edu 37 4 129867285 129867285 + Missense_Mutation SNP T T C TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 4 129867285 129867285 T C SNP SCLT1 ENST00000281142 human ensembl 74_37 -1 known missense c.1316 p.N439S 0.994 NULL NULL - no_errors SCLT1 HGNC ENSG00000151466 22 0 0 33 5 13.1579 USP38 0 genome.wustl.edu 37 4 144106972 144106972 + Silent SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 4 144106972 144106972 C T SNP USP38 ENST00000307017 human ensembl 74_37 +1 known silent c.369 p.L123 0.948 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP38 HGNC ENSG00000170185 96 0 0 64 11 14.6667 BST1 0 genome.wustl.edu 37 4 15733454 15733454 + Silent SNP A A C TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 4 15733454 15733454 A C SNP BST1 ENST00000265016 human ensembl 74_37 +1 known silent c.943 p.R315 0.002 NULL pfam_ADP-ribosyl_cyclase - no_errors BST1 HGNC ENSG00000109743 25 0 0 24 3 11.1111 FRG1 0 genome.wustl.edu 37 4 190878577 190878577 + Missense_Mutation SNP A A G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 4 190878577 190878577 A G SNP FRG1 ENST00000226798 human ensembl 74_37 +1 known missense c.457 p.N153D 1.000 pfam_FRG1,superfamily_Actin_cross-linking pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FRG1 HGNC ENSG00000109536 36 0 0 49 5 9.25926 CWH43 0 genome.wustl.edu 37 4 49032878 49032878 + Missense_Mutation SNP C C G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 4 49032878 49032878 C G SNP CWH43 ENST00000226432 human ensembl 74_37 +1 known missense c.1409 p.S470C 1.000 superfamily_Endo/exonuclease/phosphatase superfamily_Endo/exonuclease/phosphatase - no_errors CWH43 HGNC ENSG00000109182 78 0 0 92 28 23.3333 CYFIP2 0 genome.wustl.edu 37 5 156753275 156753275 + Silent SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 5 156753275 156753275 G A SNP CYFIP2 ENST00000318218 human ensembl 74_37 +1 known silent c.2154 p.E718 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 99 0 0 84 13 13.4021 HK3 0 genome.wustl.edu 37 5 176308118 176308118 + Missense_Mutation SNP C C A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 5 176308118 176308118 C A SNP HK3 ENST00000292432 human ensembl 74_37 -1 known missense c.2728 p.V910F 1.000 pfam_Hexokinase_C,prints_Hexokinase pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK3 HGNC ENSG00000160883 77 0 0 23 6 20.6897 HTR1A 0 genome.wustl.edu 37 5 63256317 63256317 + Silent SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 5 63256317 63256317 C T SNP HTR1A ENST00000323865 human ensembl 74_37 -1 known silent c.1230 p.A410 0.003 prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 317 0 0 274 16 5.51724 ASCC3 0 genome.wustl.edu 37 6 101296227 101296227 + Missense_Mutation SNP G G T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 6 101296227 101296227 G T SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known missense c.598 p.L200M 0.998 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 51 0 0 76 5 6.17284 LAMA4 0 genome.wustl.edu 37 6 112528344 112528344 + Silent SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 6 112528344 112528344 G A SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known silent c.300 p.H100 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 72 0 0 67 6 8.21918 ROS1 0 genome.wustl.edu 37 6 117662377 117662377 + Missense_Mutation SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 6 117662377 117662377 G A SNP ROS1 ENST00000368508 human ensembl 74_37 -1 known missense c.5000 p.P1667L 0.991 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 49 0 0 89 6 6.31579 HIST1H3H 0 genome.wustl.edu 37 6 27778143 27778143 + Missense_Mutation SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 6 27778143 27778143 G A SNP HIST1H3H ENST00000369163 human ensembl 74_37 +1 known missense c.292 p.E98K 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3H HGNC ENSG00000203813 100 1 0.990099 54 11 16.9231 BAI3 0 genome.wustl.edu 37 6 69943236 69943236 + Missense_Mutation SNP T T G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 6 69943236 69943236 T G SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.2535 p.D845E 1.000 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 172 0 0 139 50 26.455 FHL5 0 genome.wustl.edu 37 6 97058574 97058574 + Missense_Mutation SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 6 97058574 97058574 G A SNP FHL5 ENST00000326771 human ensembl 74_37 +1 known missense c.631 p.V211M 0.004 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL5 HGNC ENSG00000112214 159 1 0.625 155 22 12.4294 CFTR 0 genome.wustl.edu 37 7 117232021 117232021 + Silent SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 7 117232021 117232021 G A SNP CFTR ENST00000003084 human ensembl 74_37 +1 known silent c.1800 p.R600 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 48 0 0 87 8 8.42105 KCND2 0 genome.wustl.edu 37 7 120373007 120373007 + Missense_Mutation SNP T T C TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 7 120373007 120373007 T C SNP KCND2 ENST00000331113 human ensembl 74_37 +1 known missense c.1166 p.I389T 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 77 0 0 70 12 14.6341 CHRM2 0 genome.wustl.edu 37 7 136699939 136699939 + Silent SNP C C G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 7 136699939 136699939 C G SNP CHRM2 ENST00000320658 human ensembl 74_37 +1 known silent c.327 p.A109 0.972 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 142 0 0 134 22 14.1026 DGKI 0 genome.wustl.edu 37 7 137075949 137075949 + RNA SNP T T G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 7 137075949 137075949 T G SNP DGKI ENST00000477835 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors DGKI HGNC ENSG00000157680 99 0 0 84 20 19.2308 KCNH2 0 genome.wustl.edu 37 7 150654535 150654535 + Silent SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 7 150654535 150654535 G A SNP KCNH2 ENST00000262186 human ensembl 74_37 -1 known silent c.972 p.L324 0.945 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH2 HGNC ENSG00000055118 63 0 0 26 6 18.75 SHH 0 genome.wustl.edu 37 7 155599103 155599103 + Missense_Mutation SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 7 155599103 155599103 G A SNP SHH ENST00000297261 human ensembl 74_37 -1 known missense c.449 p.T150M 1.000 pirsf_Hedgehog,pfam_Hedgehog_signaling_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,prints_Hedgehog pirsf_Hedgehog,pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,prints_Hedgehog,pfscan_Intein_splice_site - no_errors SHH HGNC ENSG00000164690 136 0 0 60 16 21.0526 POM121 0 genome.wustl.edu 37 7 72413896 72413896 + Missense_Mutation SNP A A G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 7 72413896 72413896 A G SNP POM121 ENST00000434423 human ensembl 74_37 +1 known missense c.3364 p.T1122A 0.152 NULL NULL - no_errors POM121 HGNC ENSG00000196313 42 0 0 24 4 14.2857 PCLO 0 genome.wustl.edu 37 7 82544523 82544523 + Missense_Mutation SNP A A C TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 7 82544523 82544523 A C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.12779 p.L4260R 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 18 0 0 20 3 13.0435 STAG3 0 genome.wustl.edu 37 7 99808776 99808776 + Silent SNP A A G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 7 99808776 99808776 A G SNP STAG3 ENST00000317296 human ensembl 74_37 +1 known silent c.3381 p.E1127 0.836 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG3 HGNC ENSG00000066923 112 0 0 62 9 12.6761 FBXO43 0 genome.wustl.edu 37 8 101149837 101149837 + Missense_Mutation SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 8 101149837 101149837 G A SNP FBXO43 ENST00000428847 human ensembl 74_37 -1 known missense c.1630 p.R544W 0.766 NULL pfam_Znf_C6HC,superfamily_F-box_dom,smart_Znf_C6HC - no_errors FBXO43 HGNC ENSG00000156509 27 0 0 30 11 26.8293 FAM86B2 0 genome.wustl.edu 37 8 12283473 12283473 + Missense_Mutation SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 8 12283473 12283473 C T SNP FAM86B2 ENST00000393715 human ensembl 74_37 -1 known missense c.376 p.G126R 0.000 NULL NULL - no_errors FAM86B2 HGNC ENSG00000145002 10 0 0 6 7 53.8462 RHOBTB2 0 genome.wustl.edu 37 8 22868070 22868070 + Missense_Mutation SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 8 22868070 22868070 G A SNP RHOBTB2 ENST00000251822 human ensembl 74_37 +1 known missense c.1640 p.S547N 0.998 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC ENSG00000008853 176 0 0 128 8 5.88235 XKR4 0 genome.wustl.edu 37 8 56270253 56270253 + Silent SNP A A T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 8 56270253 56270253 A T SNP XKR4 ENST00000327381 human ensembl 74_37 +1 known silent c.822 p.I274 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 70 0 0 62 10 13.8889 NIPAL2 0 genome.wustl.edu 37 8 99205172 99205172 + RNA SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 8 99205172 99205172 C T SNP NIPAL2 ENST00000520545 human ensembl 74_37 -1 known rna NULL NULL 0.023 - - - no_errors NIPAL2 HGNC ENSG00000104361 35 0 0 40 15 27.2727 LAMC3 0 genome.wustl.edu 37 9 133932371 133932371 + Silent SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 9 133932371 133932371 G A SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known silent c.1995 p.P665 0.000 pfam_Laminin_B_type_IV,smart_EGF_laminin,pfscan_Laminin_B_type_IV pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 200 0 0 93 18 16.2162 IFNA10 0 genome.wustl.edu 37 9 21206570 21206570 + Missense_Mutation SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 9 21206570 21206570 G A SNP IFNA10 ENST00000357374 human ensembl 74_37 -1 known missense c.527 p.S176L 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA10 HGNC ENSG00000186803 283 0 0 229 130 36.2117 SMARCA2 0 genome.wustl.edu 37 9 2123850 2123850 + Silent SNP A A G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 9 2123850 2123850 A G SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known silent c.3894 p.E1298 0.571 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 24 0 0 9 4 30.7692 KIF24 0 genome.wustl.edu 37 9 34257621 34257621 + Missense_Mutation SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 9 34257621 34257621 G A SNP KIF24 ENST00000379166 human ensembl 74_37 -1 known missense c.1984 p.P662S 0.000 NULL pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_P-loop_NTPase,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF24 HGNC ENSG00000186638 98 0 0 74 12 13.9535 FRMPD1 0 genome.wustl.edu 37 9 37745803 37745803 + Silent SNP A A G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 9 37745803 37745803 A G SNP FRMPD1 ENST00000377765 human ensembl 74_37 +1 known silent c.3774 p.E1258 0.000 NULL pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD1 HGNC ENSG00000070601 123 0 0 93 5 5.10204 SHC3 0 genome.wustl.edu 37 9 91657058 91657058 + Missense_Mutation SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 9 91657058 91657058 C T SNP SHC3 ENST00000375835 human ensembl 74_37 -1 known missense c.1243 p.V415M 0.000 NULL pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC3 HGNC ENSG00000148082 152 0 0 59 39 39.7959 DDX3X 0 genome.wustl.edu 37 X 41204467 41204467 + Missense_Mutation SNP G G T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 X 41204467 41204467 G T SNP DDX3X ENST00000399959 human ensembl 74_37 +1 known missense c.1060 p.D354Y 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX3X HGNC ENSG00000215301 76 0 0 34 45 56.962 HUWE1 0 genome.wustl.edu 37 X 53672407 53672407 + Silent SNP T T C TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 X 53672407 53672407 T C SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known silent c.360 p.T120 0.996 pfam_E3_Ub_ligase_DUF908,superfamily_ARM-type_fold pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 22 0 0 13 19 59.375 EDA2R 0 genome.wustl.edu 37 X 65835851 65835851 + Missense_Mutation SNP T T G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 X 65835851 65835851 T G SNP EDA2R ENST00000253392 human ensembl 74_37 -1 known missense c.12 p.Q4H 1.000 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_27 - no_errors EDA2R HGNC ENSG00000131080 14 0 0 16 3 15.7895 KIAA2022 0 genome.wustl.edu 37 X 73961095 73961095 + Missense_Mutation SNP T T A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 X 73961095 73961095 T A SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.3297 p.Q1099H 0.993 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 56 0 0 72 10 12.1951 FAM186B 0 genome.wustl.edu 37 12 49999123 49999123 + Frame_Shift_Del DEL C C - TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 12 49999123 49999123 C - DEL FAM186B ENST00000533372 human ensembl 74_37 -1 known frame_shift_del c.138 p.M47fs 0.300 NULL NULL - no_errors FAM186B HGNC ENSG00000135436 12 0 0 7 4 36.3636 FAXDC2 0 genome.wustl.edu 37 5 154202055 154202056 + Frame_Shift_Del DEL AG AG - TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 5 154202055 154202056 AG - DEL FAXDC2 ENST00000326080 human ensembl 74_37 -1 known frame_shift_del c.655_654 p.Y219fs 1.000:0.999 pfam_Fatty_acid_hydroxylase pfam_Fatty_acid_hydroxylase - no_errors FAXDC2 HGNC ENSG00000170271 221 0 0 160 10 5.88235 FAM115C 0 genome.wustl.edu 37 7 143417404 143417405 + Frame_Shift_Del DEL CT CT - TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 7 143417404 143417405 CT - DEL FAM115C ENST00000441159 human ensembl 74_37 +1 known frame_shift_del c.1252_1253 p.Q420fs 0.084:0.101 NULL NULL - no_errors FAM115C HGNC ENSG00000170379 109 0 0 93 5 5.10204