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 UBE4B 0 genome.wustl.edu 37 1 10179613 10179613 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 1 10179613 10179613 C T SNP UBE4B ENST00000343090 human ensembl 74_37 +1 known missense c.1381 p.R461C 1.000 NULL pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 73 0 0 81 21 20.5882 SLC16A4 0 genome.wustl.edu 37 1 110925531 110925531 + Nonsense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 1 110925531 110925531 G A SNP SLC16A4 ENST00000369779 human ensembl 74_37 -1 known nonsense c.145 p.Q49* 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A4 HGNC ENSG00000168679 129 0 0 158 34 17.7083 ATP1A4 0 genome.wustl.edu 37 1 160143992 160143992 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 1 160143992 160143992 G A SNP ATP1A4 ENST00000368081 human ensembl 74_37 +1 known missense c.2083 p.V695M 1.000 pfam_HAD-like_dom,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 77 0 0 113 19 14.3939 TNN 0 genome.wustl.edu 37 1 175046955 175046955 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 1 175046955 175046955 G A SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.401 p.G134E 1.000 NULL 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 TNN HGNC ENSG00000120332 36 0 0 44 14 24.1379 LHX9 0 genome.wustl.edu 37 1 197890498 197890498 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 1 197890498 197890498 C T SNP LHX9 ENST00000367387 human ensembl 74_37 +1 known missense c.442 p.R148C 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX9 HGNC ENSG00000143355 70 0 0 106 22 17.1875 HHAT 0 genome.wustl.edu 37 1 210761322 210761322 + Missense_Mutation SNP T T C TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 1 210761322 210761322 T C SNP HHAT ENST00000391905 human ensembl 74_37 +1 known missense c.1124 p.V375A 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors HHAT HGNC ENSG00000054392 83 0 0 110 15 12 TGFB2 0 genome.wustl.edu 37 1 218614600 218614600 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 1 218614600 218614600 G A SNP TGFB2 ENST00000366929 human ensembl 74_37 +1 known missense c.1225 p.V409M 1.000 pirsf_TGF-beta,pfam_TGF-b_C,smart_TGF-b_C pirsf_TGF-beta,pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_TGFb2,prints_TGF-beta - no_errors TGFB2 HGNC ENSG00000092969 133 0 0 186 62 25 RPS6KA1 0 genome.wustl.edu 37 1 26888152 26888152 + Missense_Mutation SNP G G C TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 1 26888152 26888152 G C SNP RPS6KA1 ENST00000531382 human ensembl 74_37 +1 known missense c.1615 p.G539R 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RPS6KA1 HGNC ENSG00000117676 115 0 0 91 22 19.469 ERMAP 0 genome.wustl.edu 37 1 43296183 43296183 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 1 43296183 43296183 C T SNP ERMAP ENST00000372514 human ensembl 74_37 +1 known missense c.64 p.R22W 0.888 pfscan_Ig-like_dom pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin - no_errors ERMAP HGNC ENSG00000164010 121 0 0 80 51 38.9313 ZNF691 0 genome.wustl.edu 37 1 43317331 43317331 + Silent SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 1 43317331 43317331 C T SNP ZNF691 ENST00000397044 human ensembl 74_37 +1 known silent c.795 p.S265 0.741 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF691 HGNC ENSG00000164011 103 0 0 88 27 23.4783 TIE1 0 genome.wustl.edu 37 1 43778103 43778103 + Silent SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 1 43778103 43778103 C T SNP TIE1 ENST00000372476 human ensembl 74_37 +1 known silent c.1758 p.D586 0.031 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 66 0 0 67 38 36.1905 SPATA6 0 genome.wustl.edu 37 1 48865100 48865100 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 1 48865100 48865100 G A SNP SPATA6 ENST00000371847 human ensembl 74_37 -1 known missense c.703 p.R235W 1.000 NULL NULL - no_errors SPATA6 HGNC ENSG00000132122 241 0 0 198 69 25.8427 C1orf141 0 genome.wustl.edu 37 1 67558906 67558906 + Missense_Mutation SNP C C A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 1 67558906 67558906 C A SNP C1orf141 ENST00000371006 human ensembl 74_37 -1 known missense c.985 p.V329L 0.000 NULL NULL - no_errors C1orf141 HGNC ENSG00000203963 153 1 0.649351 109 57 34.3373 LPPR5 0 genome.wustl.edu 37 1 99470147 99470147 + Silent SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 1 99470147 99470147 C T SNP LPPR5 ENST00000263177 human ensembl 74_37 -1 known silent c.81 p.A27 0.976 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR5 Uniprot_gn ENSG00000117598 59 0 0 48 49 50.5155 ENTPD7 0 genome.wustl.edu 37 10 101464232 101464232 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 10 101464232 101464232 G A SNP ENTPD7 ENST00000370489 human ensembl 74_37 +1 known missense c.1607 p.R536Q 1.000 NULL pfam_GDA1_CD39_NTPase - no_errors ENTPD7 HGNC ENSG00000198018 119 0 0 137 21 13.2911 TECTB 0 genome.wustl.edu 37 10 114059304 114059304 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 10 114059304 114059304 G A SNP TECTB ENST00000369422 human ensembl 74_37 +1 known missense c.889 p.V297M 0.982 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors TECTB HGNC ENSG00000119913 85 0 0 86 21 19.6262 ZDHHC6 0 genome.wustl.edu 37 10 114200363 114200363 + Missense_Mutation SNP C C G TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 10 114200363 114200363 C G SNP ZDHHC6 ENST00000369405 human ensembl 74_37 -1 known missense c.610 p.A204P 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfam_SH3_2,superfamily_SH3_domain,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC6 HGNC ENSG00000023041 163 1 0.609756 148 62 29.5238 CUBN 0 genome.wustl.edu 37 10 16911646 16911646 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 10 16911646 16911646 C T SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.9443 p.R3148Q 0.042 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 231 0 0 289 43 12.9518 OGDHL 0 genome.wustl.edu 37 10 50953852 50953852 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 10 50953852 50953852 C T SNP OGDHL ENST00000374103 human ensembl 74_37 -1 known missense c.1468 p.V490M 0.940 pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 49 0 0 52 11 17.4603 PLCE1 0 genome.wustl.edu 37 10 96066442 96066442 + Nonsense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 10 96066442 96066442 C T SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known nonsense c.5881 p.R1961* 0.519 superfamily_C2_dom,smart_C2_dom,prints_Pinositol_PLipase_C pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 31 0 0 27 12 30.7692 ENSG00000254506 0 genome.wustl.edu 37 11 101464816 101464816 + RNA SNP G G T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 11 101464816 101464816 G T SNP ENSG00000254506 ENST00000527374 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors RP11-748H22.1 Clone_based_vega_gene ENSG00000254506 27 0 0 21 9 30 BUD13 0 genome.wustl.edu 37 11 116631555 116631555 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 11 116631555 116631555 G A SNP BUD13 ENST00000260210 human ensembl 74_37 -1 known missense c.1150 p.R384W 0.000 NULL pfam_Bud13 - no_errors BUD13 HGNC ENSG00000137656 151 1 0.657895 79 65 45.1389 CXCR5 0 genome.wustl.edu 37 11 118764855 118764855 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 11 118764855 118764855 G A SNP CXCR5 ENST00000292174 human ensembl 74_37 +1 known missense c.602 p.R201H 0.013 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR5 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR5,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_ATII_rcpt - no_errors CXCR5 HGNC ENSG00000160683 76 0 0 68 7 9.33333 DKK3 0 genome.wustl.edu 37 11 11987447 11987447 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 11 11987447 11987447 G A SNP DKK3 ENST00000326932 human ensembl 74_37 -1 known missense c.739 p.R247W 1.000 NULL pfam_Dickkopf_N - no_errors DKK3 HGNC ENSG00000050165 63 0 0 37 30 44.7761 PTPRJ 0 genome.wustl.edu 37 11 48171647 48171647 + Splice_Site SNP G G T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 11 48171647 48171647 G T SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known splice_site c.3051-1 e18-1 1.000 - - - no_errors PTPRJ HGNC ENSG00000149177 92 0 0 66 55 45.4545 OR4A5 0 genome.wustl.edu 37 11 51411489 51411489 + Missense_Mutation SNP A A C TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 11 51411489 51411489 A C SNP OR4A5 ENST00000319760 human ensembl 74_37 -1 known missense c.907 p.L303V 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A5 HGNC ENSG00000221840 19 0 0 14 6 30 OR4A5 0 genome.wustl.edu 37 11 51411502 51411502 + Silent SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 11 51411502 51411502 G A SNP OR4A5 ENST00000319760 human ensembl 74_37 -1 known silent c.894 p.L298 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A5 HGNC ENSG00000221840 28 0 0 25 10 28.5714 OR5D16 0 genome.wustl.edu 37 11 55606944 55606944 + Silent SNP C C A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 11 55606944 55606944 C A SNP OR5D16 ENST00000378396 human ensembl 74_37 +1 known silent c.717 p.V239 0.124 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 OR5D16 HGNC ENSG00000205029 145 0 0 152 24 13.6364 CTTN 0 genome.wustl.edu 37 11 70279321 70279321 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 11 70279321 70279321 G A SNP CTTN ENST00000301843 human ensembl 74_37 +1 known missense c.1381 p.G461S 0.985 superfamily_SH3_domain pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors CTTN HGNC ENSG00000085733 52 0 0 44 19 30.1587 PDE2A 0 genome.wustl.edu 37 11 72295734 72295734 + Silent SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 11 72295734 72295734 C T SNP PDE2A ENST00000334456 human ensembl 74_37 -1 known silent c.1398 p.A466 0.570 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE2A HGNC ENSG00000186642 48 0 0 53 15 22.0588 SBF2-AS1 0 genome.wustl.edu 37 11 9829473 9829473 + RNA SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 11 9829473 9829473 C T SNP SBF2-AS1 ENST00000498905 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SBF2-AS1 HGNC ENSG00000246273 12 0 0 16 6 27.2727 TBX5 0 genome.wustl.edu 37 12 114837435 114837435 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 12 114837435 114837435 C T SNP TBX5 ENST00000310346 human ensembl 74_37 -1 known missense c.245 p.R82Q 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX5 HGNC ENSG00000089225 177 0 0 158 26 14.1304 DNAH10 0 genome.wustl.edu 37 12 124382427 124382427 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 12 124382427 124382427 C T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.9037 p.R3013C 0.999 superfamily_P-loop_NTPase 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 81 0 0 51 37 42.0455 KIAA1467 0 genome.wustl.edu 37 12 13215850 13215850 + Missense_Mutation SNP C C A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 12 13215850 13215850 C A SNP KIAA1467 ENST00000197268 human ensembl 74_37 +1 known missense c.793 p.P265T 1.000 superfamily_Quinonprotein_ADH-like_supfam superfamily_Quinonprotein_ADH-like_supfam - no_errors KIAA1467 HGNC ENSG00000084444 378 0 0 271 176 39.3736 FKBP4 0 genome.wustl.edu 37 12 2912353 2912353 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 12 2912353 2912353 G A SNP FKBP4 ENST00000001008 human ensembl 74_37 +1 known missense c.1309 p.D437N 0.118 NULL pfam_PPIase_FKBP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP4 HGNC ENSG00000004478 11 0 0 9 11 55 TMTC1 0 genome.wustl.edu 37 12 29665041 29665041 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 12 29665041 29665041 C T SNP TMTC1 ENST00000256062 human ensembl 74_37 -1 known missense c.2119 p.A707T 0.982 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC1 HGNC ENSG00000133687 226 0 0 195 76 28.0443 MIP 0 genome.wustl.edu 37 12 56845179 56845179 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 12 56845179 56845179 C T SNP MIP ENST00000257979 human ensembl 74_37 -1 known missense c.677 p.R226Q 1.000 superfamily_Aquaporin-like pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP - no_errors MIP HGNC ENSG00000135517 132 0 0 80 59 42.446 NAB2 0 genome.wustl.edu 37 12 57487217 57487217 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 12 57487217 57487217 C T SNP NAB2 ENST00000300131 human ensembl 74_37 +1 known missense c.1304 p.P435L 1.000 NULL pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed - no_errors NAB2 HGNC ENSG00000166886 18 0 0 8 5 38.4615 PLEKHG6 0 genome.wustl.edu 37 12 6436922 6436922 + Missense_Mutation SNP G G C TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 12 6436922 6436922 G C SNP PLEKHG6 ENST00000011684 human ensembl 74_37 +1 known missense c.2173 p.A725P 0.001 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG6 HGNC ENSG00000008323 32 0 0 28 17 37.7778 NUP107 0 genome.wustl.edu 37 12 69128509 69128509 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 12 69128509 69128509 G A SNP NUP107 ENST00000229179 human ensembl 74_37 +1 known missense c.2284 p.E762K 1.000 pfam_Nup84_Nup100 pfam_Nup84_Nup100 - no_errors NUP107 HGNC ENSG00000111581 75 0 0 46 41 47.1264 BEST3 0 genome.wustl.edu 37 12 70071027 70071027 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 12 70071027 70071027 C T SNP BEST3 ENST00000330891 human ensembl 74_37 -1 known missense c.647 p.R216Q 0.335 pfam_Bestrophin/UPF0187 pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC ENSG00000127325 17 0 0 13 8 38.0952 TPTE2 0 genome.wustl.edu 37 13 19997247 19997247 + Missense_Mutation SNP A A C TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 13 19997247 19997247 A C SNP TPTE2 ENST00000382977 human ensembl 74_37 -1 known missense c.1524 p.I508M 0.629 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 84 0 0 101 18 15.1261 SLITRK6 0 genome.wustl.edu 37 13 86369596 86369596 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 13 86369596 86369596 G A SNP SLITRK6 ENST00000400286 human ensembl 74_37 -1 known missense c.1048 p.R350C 0.951 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 161 0 0 195 19 8.8785 GPC5 0 genome.wustl.edu 37 13 92797214 92797214 + Missense_Mutation SNP A A C TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 13 92797214 92797214 A C SNP GPC5 ENST00000377067 human ensembl 74_37 +1 known missense c.1533 p.E511D 1.000 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 113 0 0 136 23 14.4654 OR4M1 0 genome.wustl.edu 37 14 20249146 20249146 + Missense_Mutation SNP T T C TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 14 20249146 20249146 T C SNP OR4M1 ENST00000315957 human ensembl 74_37 +1 known missense c.665 p.L222P 0.697 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M1 HGNC ENSG00000176299 408 0 0 400 47 10.5145 SLC22A17 0 genome.wustl.edu 37 14 23818627 23818627 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 14 23818627 23818627 C T SNP SLC22A17 ENST00000206544 human ensembl 74_37 -1 known missense c.380 p.R127H 0.997 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A17 HGNC ENSG00000092096 25 0 0 29 12 29.2683 JPH4 0 genome.wustl.edu 37 14 24040633 24040633 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 14 24040633 24040633 G A SNP JPH4 ENST00000356300 human ensembl 74_37 -1 known missense c.1307 p.T436M 0.999 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH4 HGNC ENSG00000092051 61 0 0 45 30 40 NKX2-1 0 genome.wustl.edu 37 14 36987176 36987176 + Silent SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 14 36987176 36987176 G A SNP NKX2-1 ENST00000354822 human ensembl 74_37 -1 known silent c.513 p.G171 1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-1 HGNC ENSG00000136352 29 0 0 25 14 35.8974 PTGER2 0 genome.wustl.edu 37 14 52781961 52781961 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 14 52781961 52781961 G A SNP PTGER2 ENST00000245457 human ensembl 74_37 +1 known missense c.695 p.S232N 0.028 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP2_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP2_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn - no_errors PTGER2 HGNC ENSG00000125384 31 0 0 39 14 26.4151 TIMM9 0 genome.wustl.edu 37 14 58875881 58875881 + Silent SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 14 58875881 58875881 G A SNP TIMM9 ENST00000395159 human ensembl 74_37 -1 known silent c.141 p.T47 1.000 pfam_Tim10/DDP_fam_Znf,superfamily_Tim10/DDP_fam_Znf pfam_Tim10/DDP_fam_Znf,superfamily_Tim10/DDP_fam_Znf - no_errors TIMM9 HGNC ENSG00000100575 53 0 0 66 4 5.71429 PPP4R4 0 genome.wustl.edu 37 14 94674856 94674856 + Nonsense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 14 94674856 94674856 C T SNP PPP4R4 ENST00000304338 human ensembl 74_37 +1 known nonsense c.247 p.R83* 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R4 HGNC ENSG00000119698 42 0 0 35 26 42.623 ADAMTS17 0 genome.wustl.edu 37 15 100692874 100692874 + Silent SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 15 100692874 100692874 G A SNP ADAMTS17 ENST00000268070 human ensembl 74_37 -1 known silent c.1416 p.A472 0.834 smart_ADAM_Cys-rich pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS17 HGNC ENSG00000140470 94 0 0 118 29 19.7279 MKRN3 0 genome.wustl.edu 37 15 23812297 23812297 + Missense_Mutation SNP G G T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 15 23812297 23812297 G T SNP MKRN3 ENST00000314520 human ensembl 74_37 +1 known missense c.1368 p.M456I 0.198 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 126 0 0 100 36 26.4706 APBA2 0 genome.wustl.edu 37 15 29346159 29346159 + Silent SNP T T A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 15 29346159 29346159 T A SNP APBA2 ENST00000558259 human ensembl 74_37 +1 known silent c.72 p.P24 0.474 NULL pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA2 HGNC ENSG00000034053 70 0 0 56 19 25.3333 RYR3 0 genome.wustl.edu 37 15 33936554 33936554 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 15 33936554 33936554 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.3599 p.R1200H 1.000 pfam_SPRY_rcpt,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 17 0 0 24 11 31.4286 UNC13C 0 genome.wustl.edu 37 15 54592538 54592538 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 15 54592538 54592538 G A SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.4235 p.R1412H 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 14 0 0 10 4 28.5714 FOXB1 0 genome.wustl.edu 37 15 60297453 60297453 + Silent SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 15 60297453 60297453 C T SNP FOXB1 ENST00000396057 human ensembl 74_37 +1 known silent c.291 p.F97 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXB1 HGNC ENSG00000171956 69 0 0 76 34 30.9091 ARID3B 0 genome.wustl.edu 37 15 74836809 74836809 + Silent SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 15 74836809 74836809 C T SNP ARID3B ENST00000346246 human ensembl 74_37 +1 known silent c.532 p.L178 0.994 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3B HGNC ENSG00000179361 64 0 0 59 15 20.2703 FSD2 0 genome.wustl.edu 37 15 83440851 83440851 + Missense_Mutation SNP T T G TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 15 83440851 83440851 T G SNP FSD2 ENST00000334574 human ensembl 74_37 -1 known missense c.1241 p.D414A 0.889 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin - no_errors FSD2 HGNC ENSG00000186628 18 0 0 17 9 34.6154 BTBD1 0 genome.wustl.edu 37 15 83735774 83735774 + Missense_Mutation SNP G G C TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 15 83735774 83735774 G C SNP BTBD1 ENST00000261721 human ensembl 74_37 -1 known missense c.130 p.P44A 1.000 superfamily_BTB/POZ_fold pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD1 HGNC ENSG00000064726 37 0 0 40 8 16.6667 RRN3P2 0 genome.wustl.edu 37 16 29110458 29110458 + RNA SNP T T C TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 16 29110458 29110458 T C SNP RRN3P2 ENST00000427965 human ensembl 74_37 +1 known rna NULL NULL 0.991 - - - no_errors RRN3P2 HGNC ENSG00000103472 42 0 0 51 3 5.55556 ABCC11 0 genome.wustl.edu 37 16 48234327 48234327 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 16 48234327 48234327 C T SNP ABCC11 ENST00000356608 human ensembl 74_37 -1 known missense c.1942 p.V648I 0.742 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like 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 - no_errors ABCC11 HGNC ENSG00000121270 58 0 0 51 35 40.6977 CARHSP1 0 genome.wustl.edu 37 16 8949149 8949149 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 16 8949149 8949149 C T SNP CARHSP1 ENST00000311052 human ensembl 74_37 -1 known missense c.316 p.E106K 1.000 pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot - no_errors CARHSP1 HGNC ENSG00000153048 62 0 0 60 23 27.7108 DNAH9 0 genome.wustl.edu 37 17 11687773 11687773 + Nonsense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 17 11687773 11687773 C T SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known nonsense c.7978 p.Q2660* 1.000 superfamily_P-loop_NTPase 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 231 0 0 213 67 23.9286 TOM1L2 0 genome.wustl.edu 37 17 17797056 17797056 + Silent SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 17 17797056 17797056 G A SNP TOM1L2 ENST00000379504 human ensembl 74_37 -1 known silent c.285 p.I95 0.136 pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_VHS pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1L2 HGNC ENSG00000175662 91 0 0 70 42 37.5 NUFIP2 0 genome.wustl.edu 37 17 27620876 27620876 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 17 27620876 27620876 C T SNP NUFIP2 ENST00000225388 human ensembl 74_37 -1 known missense c.202 p.A68T 1.000 NULL NULL - no_errors NUFIP2 HGNC ENSG00000108256 233 0 0 177 128 41.9672 NF1 0 genome.wustl.edu 37 17 29533378 29533378 + Nonsense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 17 29533378 29533378 C T SNP NF1 ENST00000358273 human ensembl 74_37 +1 known nonsense c.1381 p.R461* 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 150 0 0 94 84 47.191 NF1 0 genome.wustl.edu 37 17 29685544 29685544 + Nonsense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 17 29685544 29685544 C T SNP NF1 ENST00000358273 human ensembl 74_37 +1 known nonsense c.8017 p.Q2673* 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 60 0 0 50 30 37.5 GGNBP2 0 genome.wustl.edu 37 17 34923606 34923606 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 17 34923606 34923606 G A SNP GGNBP2 ENST00000304718 human ensembl 74_37 +1 known missense c.632 p.R211Q 1.000 NULL NULL - no_errors GGNBP2 HGNC ENSG00000005955 85 0 0 69 52 42.9752 ICAM2 0 genome.wustl.edu 37 17 62081258 62081258 + Missense_Mutation SNP A A G TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 17 62081258 62081258 A G SNP ICAM2 ENST00000412356 human ensembl 74_37 -1 known missense c.395 p.I132T 0.803 prints_ICAM_VCAM_N,prints_ICAM pfam_ICAM_N,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM2 HGNC ENSG00000108622 55 0 0 26 21 44.6809 SEC14L1 0 genome.wustl.edu 37 17 75209494 75209494 + Silent SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 17 75209494 75209494 C T SNP SEC14L1 ENST00000392476 human ensembl 74_37 +1 known silent c.1962 p.D654 0.998 superfamily_GOLD,pfscan_GOLD pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1 - no_errors SEC14L1 HGNC ENSG00000129657 40 0 0 41 6 12.766 SLC14A2 0 genome.wustl.edu 37 18 43204733 43204733 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 18 43204733 43204733 C T SNP SLC14A2 ENST00000255226 human ensembl 74_37 +1 known missense c.104 p.P35L 1.000 NULL pfam_Urea_transporter - no_errors SLC14A2 HGNC ENSG00000132874 125 0 0 66 80 54.7945 SMAD2 0 genome.wustl.edu 37 18 45368211 45368211 + Nonsense_Mutation SNP G G C TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 18 45368211 45368211 G C SNP SMAD2 ENST00000262160 human ensembl 74_37 -1 known nonsense c.1391 p.S464* 1.000 pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD2 HGNC ENSG00000175387 80 0 0 62 19 23.4568 SERPINB12 0 genome.wustl.edu 37 18 61232706 61232706 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 18 61232706 61232706 C T SNP SERPINB12 ENST00000269491 human ensembl 74_37 +1 known missense c.674 p.T225M 0.037 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB12 HGNC ENSG00000166634 136 0 0 68 105 60.6936 EIF3G 0 genome.wustl.edu 37 19 10226419 10226419 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 19 10226419 10226419 G A SNP EIF3G ENST00000253108 human ensembl 74_37 -1 known missense c.781 p.P261S 1.000 pfam_RRM_dom,smart_RRM_dom,pirsf_eIF3_g,pfscan_RRM_dom pfam_eIF3g_N,pfam_RRM_dom,smart_RRM_dom,pirsf_eIF3_g,pfscan_RRM_dom - no_errors EIF3G HGNC ENSG00000130811 171 0 0 178 70 28.2258 CACNA1A 0 genome.wustl.edu 37 19 13323247 13323247 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 19 13323247 13323247 G A SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known missense c.6140 p.P2047L 0.997 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 21 0 0 22 24 52.1739 ZNF729 0 genome.wustl.edu 37 19 22498765 22498765 + Missense_Mutation SNP A A G TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 19 22498765 22498765 A G SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel missense c.2546 p.K849R 1.000 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 82 0 0 106 16 13.1148 TJP3 0 genome.wustl.edu 37 19 3746572 3746572 + Silent SNP C C A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 19 3746572 3746572 C A SNP TJP3 ENST00000262968 human ensembl 74_37 +1 known silent c.2199 p.P733 0.054 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_PDZ,pfam_SH3_2,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS3,prints_ZonOcculdens - no_errors TJP3 HGNC ENSG00000105289 46 0 0 66 4 5.71429 ZBTB7A 0 genome.wustl.edu 37 19 4048234 4048234 + Missense_Mutation SNP T T G TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 19 4048234 4048234 T G SNP ZBTB7A ENST00000322357 human ensembl 74_37 -1 known missense c.1271 p.K424T 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7A HGNC ENSG00000178951 37 0 0 46 28 37.8378 HIPK4 0 genome.wustl.edu 37 19 40890034 40890034 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 19 40890034 40890034 C T SNP HIPK4 ENST00000291823 human ensembl 74_37 -1 known missense c.478 p.G160R 0.966 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK4 HGNC ENSG00000160396 113 0 0 131 30 18.6335 GPR4 0 genome.wustl.edu 37 19 46095082 46095082 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 19 46095082 46095082 C T SNP GPR4 ENST00000323040 human ensembl 74_37 -1 known missense c.43 p.V15M 0.674 prints_GPR4_orph pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPR4_orph,prints_GPCR_Rhodpsn,prints_Psych_rcpt - no_errors GPR4 HGNC ENSG00000177464 73 0 0 101 22 17.8862 SLC17A7 0 genome.wustl.edu 37 19 49939974 49939974 + Silent SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 19 49939974 49939974 C T SNP SLC17A7 ENST00000221485 human ensembl 74_37 -1 known silent c.147 p.P49 1.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A7 HGNC ENSG00000104888 120 0 0 147 39 20.9677 SIGLEC5 0 genome.wustl.edu 37 19 52115642 52115642 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 19 52115642 52115642 C T SNP SIGLEC5 ENST00000222107 human ensembl 74_37 -1 known missense c.1498 p.G500R 0.000 NULL pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC5 HGNC ENSG00000105501 180 0 0 231 48 17.2043 LILRA2 0 genome.wustl.edu 37 19 55098716 55098716 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 19 55098716 55098716 G A SNP LILRA2 ENST00000251377 human ensembl 74_37 +1 known missense c.1355 p.R452H 0.004 pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA2 HGNC ENSG00000239998 91 0 0 99 48 32.6531 NLRP4 0 genome.wustl.edu 37 19 56369488 56369488 + Silent SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 19 56369488 56369488 C T SNP NLRP4 ENST00000301295 human ensembl 74_37 +1 known silent c.729 p.P243 0.000 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC ENSG00000160505 145 0 0 151 68 31.0502 AZU1 0 genome.wustl.edu 37 19 829667 829667 + Silent SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 19 829667 829667 C T SNP AZU1 ENST00000233997 human ensembl 74_37 +1 known silent c.321 p.Y107 0.095 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 AZU1 HGNC ENSG00000172232 95 0 0 92 54 36.9863 ADAMTS10 0 genome.wustl.edu 37 19 8654436 8654436 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 19 8654436 8654436 G A SNP ADAMTS10 ENST00000270328 human ensembl 74_37 -1 known missense c.1934 p.A645V 1.000 NULL pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,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 ADAMTS10 HGNC ENSG00000142303 102 0 0 115 31 21.2329 MUC16 0 genome.wustl.edu 37 19 9068980 9068980 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 19 9068980 9068980 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.18466 p.A6156T 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 80 0 0 87 45 34.0909 ZNF317 0 genome.wustl.edu 37 19 9272049 9272049 + Silent SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 19 9272049 9272049 C T SNP ZNF317 ENST00000247956 human ensembl 74_37 +1 known silent c.1728 p.H576 0.543 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 ZNF317 HGNC ENSG00000130803 93 0 0 116 20 14.7059 AFF3 0 genome.wustl.edu 37 2 100170900 100170900 + Silent SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 2 100170900 100170900 C T SNP AFF3 ENST00000356421 human ensembl 74_37 -1 known silent c.3507 p.P1169 0.006 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 108 0 0 116 24 17.1429 FBLN7 0 genome.wustl.edu 37 2 112944852 112944852 + Silent SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 2 112944852 112944852 C T SNP FBLN7 ENST00000331203 human ensembl 74_37 +1 known silent c.1089 p.P363 0.041 NULL pfam_EGF-like_Ca-bd_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP - no_errors FBLN7 HGNC ENSG00000144152 182 0 0 186 48 20.5128 SCN2A 0 genome.wustl.edu 37 2 166245404 166245404 + Silent SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 2 166245404 166245404 C T SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known silent c.5088 p.N1696 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 279 0 0 306 37 10.7872 XIRP2 0 genome.wustl.edu 37 2 168102549 168102549 + Silent SNP C C A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 2 168102549 168102549 C A SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known silent c.4647 p.G1549 0.998 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 100 0 0 83 37 30.8333 ABCB11 0 genome.wustl.edu 37 2 169792824 169792824 + Silent SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 2 169792824 169792824 G A SNP ABCB11 ENST00000263817 human ensembl 74_37 -1 known silent c.2730 p.F910 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom 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 - no_errors ABCB11 HGNC ENSG00000073734 81 0 0 83 19 18.6275 LRP2 0 genome.wustl.edu 37 2 170030521 170030521 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 2 170030521 170030521 C T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.10922 p.R3641Q 0.328 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,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 LRP2 HGNC ENSG00000081479 109 0 0 62 47 43.1193 TLK1 0 genome.wustl.edu 37 2 171850340 171850340 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 2 171850340 171850340 C T SNP TLK1 ENST00000431350 human ensembl 74_37 -1 known missense c.2251 p.G751R 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 TLK1 HGNC ENSG00000198586 201 0 0 185 47 20.2586 TTN 0 genome.wustl.edu 37 2 179471823 179471823 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 2 179471823 179471823 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.45802 p.R15268C 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 221 0 0 201 48 19.2771 COL5A2 0 genome.wustl.edu 37 2 189899824 189899824 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 2 189899824 189899824 G A SNP COL5A2 ENST00000374866 human ensembl 74_37 -1 known missense c.4171 p.R1391C 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 105 0 0 76 32 29.6296 CRYGC 0 genome.wustl.edu 37 2 208992950 208992950 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 2 208992950 208992950 G A SNP CRYGC ENST00000282141 human ensembl 74_37 -1 known missense c.502 p.R168W 0.811 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGC HGNC ENSG00000163254 191 0 0 156 61 28.1106 EPHA4 0 genome.wustl.edu 37 2 222428898 222428898 + Missense_Mutation SNP A A G TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 2 222428898 222428898 A G SNP EPHA4 ENST00000281821 human ensembl 74_37 -1 known missense c.376 p.Y126H 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,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,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA4 HGNC ENSG00000116106 211 0 0 185 48 20.6009 POMC 0 genome.wustl.edu 37 2 25387531 25387531 + Silent SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 2 25387531 25387531 G A SNP POMC ENST00000264708 human ensembl 74_37 -1 known silent c.111 p.L37 1.000 pfam_Melanocortin_N pfam_Mcrtin_ACTH_cent,pfam_Melanocortin_N,pfam_Opioid_neuropept,prints_Mcortin_ACTH - no_errors POMC HGNC ENSG00000115138 107 0 0 140 9 6.04027 KCNG3 0 genome.wustl.edu 37 2 42720508 42720508 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 2 42720508 42720508 C T SNP KCNG3 ENST00000306078 human ensembl 74_37 -1 known missense c.134 p.R45H 0.999 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv6 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG3 HGNC ENSG00000171126 10 0 0 12 7 36.8421 NRXN1 0 genome.wustl.edu 37 2 50850746 50850746 + Silent SNP T T C TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 2 50850746 50850746 T C SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known silent c.840 p.E280 1.000 superfamily_ConA-like_lec_gl_sf pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 56 0 0 34 15 30.6122 EMX1 0 genome.wustl.edu 37 2 73151516 73151516 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 2 73151516 73151516 C T SNP EMX1 ENST00000258106 human ensembl 74_37 +1 known missense c.599 p.S200L 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors EMX1 HGNC ENSG00000135638 12 0 0 12 4 25 CCDC142 0 genome.wustl.edu 37 2 74701728 74701728 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 2 74701728 74701728 C T SNP CCDC142 ENST00000393965 human ensembl 74_37 -1 known missense c.2198 p.R733Q 0.000 NULL NULL - no_errors CCDC142 HGNC ENSG00000135637 27 0 0 33 30 47.619 RNF103 0 genome.wustl.edu 37 2 86849918 86849918 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 2 86849918 86849918 C T SNP RNF103 ENST00000237455 human ensembl 74_37 -1 known missense c.92 p.G31D 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF103 HGNC ENSG00000239305 86 0 0 90 13 12.6214 MGME1 0 genome.wustl.edu 37 20 17956474 17956474 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 20 17956474 17956474 G A SNP MGME1 ENST00000377710 human ensembl 74_37 +1 known missense c.659 p.R220Q 0.970 NULL superfamily_Restrct_endonuc-II-like - no_errors MGME1 HGNC ENSG00000125871 109 0 0 191 37 16.2281 SAMHD1 0 genome.wustl.edu 37 20 35555600 35555600 + Silent SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 20 35555600 35555600 C T SNP SAMHD1 ENST00000262878 human ensembl 74_37 -1 known silent c.681 p.P227 0.735 pfam_HD_domain,smart_HD/PDEase_dom pfam_HD_domain,pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,smart_HD/PDEase_dom,pfscan_SAM - no_errors SAMHD1 HGNC ENSG00000101347 141 1 0.704225 231 24 9.41176 KCNB1 0 genome.wustl.edu 37 20 47991216 47991216 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 20 47991216 47991216 C T SNP KCNB1 ENST00000371741 human ensembl 74_37 -1 known missense c.881 p.R294H 1.000 pfam_Ion_trans_dom pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB1 HGNC ENSG00000158445 117 1 0.847458 165 48 22.5352 SYCP2 0 genome.wustl.edu 37 20 58467645 58467645 + Silent SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 20 58467645 58467645 C T SNP SYCP2 ENST00000357552 human ensembl 74_37 -1 known silent c.1905 p.S635 0.019 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 86 0 0 130 12 8.4507 LAMA5 0 genome.wustl.edu 37 20 60887486 60887486 + Silent SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 20 60887486 60887486 G A SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known silent c.9330 p.G3110 0.313 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 23 0 0 26 4 13.3333 BIRC7 0 genome.wustl.edu 37 20 61870941 61870941 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 20 61870941 61870941 G A SNP BIRC7 ENST00000217169 human ensembl 74_37 +1 known missense c.881 p.R294H 1.000 NULL pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC7 HGNC ENSG00000101197 25 0 0 44 9 16.9811 PTK6 0 genome.wustl.edu 37 20 62164956 62164956 + Silent SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 20 62164956 62164956 G A SNP PTK6 ENST00000217185 human ensembl 74_37 -1 known silent c.618 p.F206 0.917 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors PTK6 HGNC ENSG00000101213 139 0 0 245 80 24.6154 HELZ2 0 genome.wustl.edu 37 20 62193017 62193017 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 20 62193017 62193017 C T SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known missense c.6773 p.R2258H 0.062 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 173 0 0 224 21 8.57143 MRPL39 0 genome.wustl.edu 37 21 26972169 26972169 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 21 26972169 26972169 C T SNP MRPL39 ENST00000307301 human ensembl 74_37 -1 known missense c.530 p.G177D 1.000 superfamily_Thr/Ala-tRNA-synth_IIc_edit superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_TGS-like - no_errors MRPL39 HGNC ENSG00000154719 75 0 0 81 19 19 KRTAP11-1 0 genome.wustl.edu 37 21 32253626 32253626 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 21 32253626 32253626 C T SNP KRTAP11-1 ENST00000332378 human ensembl 74_37 -1 known missense c.218 p.R73Q 0.001 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP11-1 HGNC ENSG00000182591 91 0 0 50 41 45.0549 BRWD1 0 genome.wustl.edu 37 21 40559053 40559053 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 21 40559053 40559053 C T SNP BRWD1 ENST00000333229 human ensembl 74_37 -1 known missense c.6862 p.D2288N 0.999 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 138 0 0 75 57 43.1818 SEZ6L 0 genome.wustl.edu 37 22 26706696 26706696 + Silent SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 22 26706696 26706696 C T SNP SEZ6L ENST00000248933 human ensembl 74_37 +1 known silent c.1575 p.T525 0.033 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC ENSG00000100095 163 0 0 126 79 38.5366 SLC5A1 0 genome.wustl.edu 37 22 32479091 32479091 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 22 32479091 32479091 C T SNP SLC5A1 ENST00000266088 human ensembl 74_37 +1 known missense c.614 p.T205I 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A1 HGNC ENSG00000100170 66 0 0 58 15 20.5479 BPIFC 0 genome.wustl.edu 37 22 32831745 32831745 + Silent SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 22 32831745 32831745 C T SNP BPIFC ENST00000300399 human ensembl 74_37 -1 known silent c.870 p.A290 0.015 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFC HGNC ENSG00000184459 80 0 0 59 19 24.359 SEC61A1 0 genome.wustl.edu 37 3 127779501 127779501 + Nonsense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 3 127779501 127779501 C T SNP SEC61A1 ENST00000243253 human ensembl 74_37 +1 known nonsense c.613 p.R205* 1.000 pfam_SecY/SEC61-alpha,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha - no_errors SEC61A1 HGNC ENSG00000058262 48 0 0 58 24 29.2683 ZIC1 0 genome.wustl.edu 37 3 147128283 147128283 + Silent SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 3 147128283 147128283 C T SNP ZIC1 ENST00000282928 human ensembl 74_37 +1 known silent c.384 p.F128 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC1 HGNC ENSG00000152977 30 0 0 34 7 17.0732 PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 63 0 0 61 20 24.6914 PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 86 0 0 102 20 16.3934 NME6 0 genome.wustl.edu 37 3 48339990 48339990 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 3 48339990 48339990 C T SNP NME6 ENST00000421967 human ensembl 74_37 -1 known missense c.41 p.R14Q 0.654 NULL pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase - no_errors NME6 HGNC ENSG00000172113 30 0 0 34 3 8.10811 COL7A1 0 genome.wustl.edu 37 3 48618351 48618351 + Silent SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 3 48618351 48618351 C T SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known silent c.4944 p.P1648 0.993 NULL pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 56 0 0 44 20 31.25 PRICKLE2 0 genome.wustl.edu 37 3 64132808 64132808 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 3 64132808 64132808 G A SNP PRICKLE2 ENST00000295902 human ensembl 74_37 -1 known missense c.1358 p.S453L 1.000 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE2 HGNC ENSG00000163637 197 1 0.505051 185 35 15.9091 FAM86DP 0 genome.wustl.edu 37 3 75471367 75471367 + RNA SNP C C G TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 3 75471367 75471367 C G SNP FAM86DP ENST00000459803 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors FAM86DP HGNC ENSG00000244026 31 0 0 28 3 9.67742 MTHFD2P1 0 genome.wustl.edu 37 3 95373850 95373850 + RNA SNP T T G TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 3 95373850 95373850 T G SNP MTHFD2P1 ENST00000494840 human ensembl 74_37 -1 known rna NULL NULL 0.955 - - - no_errors MTHFD2P1 HGNC ENSG00000244681 13 0 0 8 10 55.5556 OR5H14 0 genome.wustl.edu 37 3 97868558 97868558 + Missense_Mutation SNP C C A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 3 97868558 97868558 C A SNP OR5H14 ENST00000437310 human ensembl 74_37 +1 known missense c.329 p.T110K 0.179 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H14 HGNC ENSG00000236032 253 2 0.784314 168 90 34.8837 PITX2 0 genome.wustl.edu 37 4 111539829 111539829 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 4 111539829 111539829 G A SNP PITX2 ENST00000306732 human ensembl 74_37 -1 known missense c.427 p.R143C 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors PITX2 HGNC ENSG00000164093 138 1 0.719424 159 36 18.4615 PCDH18 0 genome.wustl.edu 37 4 138442509 138442509 + Nonsense_Mutation SNP C C A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 4 138442509 138442509 C A SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known nonsense c.3082 p.E1028* 0.998 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 95 0 0 53 36 40.4494 RNF150 0 genome.wustl.edu 37 4 141888924 141888924 + Silent SNP T T C TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 4 141888924 141888924 T C SNP RNF150 ENST00000515673 human ensembl 74_37 -1 known silent c.588 p.G196 0.009 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF150 HGNC ENSG00000170153 201 0 0 233 66 22.0736 FBXW7 0 genome.wustl.edu 37 4 153247167 153247167 + Nonsense_Mutation SNP A A C TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 4 153247167 153247167 A C SNP FBXW7 ENST00000281708 human ensembl 74_37 -1 known nonsense c.1635 p.Y545* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 167 0 0 128 88 40.7407 NPY2R 0 genome.wustl.edu 37 4 156135406 156135406 + Silent SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 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 85 0 0 43 35 44.8718 POLR2B 0 genome.wustl.edu 37 4 57877199 57877199 + Missense_Mutation SNP A A T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 4 57877199 57877199 A T SNP POLR2B ENST00000314595 human ensembl 74_37 +1 known missense c.1733 p.K578I 1.000 pfam_RNA_pol_Rpb2_4 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5 - no_errors POLR2B HGNC ENSG00000047315 65 0 0 72 16 18.1818 DRD5 0 genome.wustl.edu 37 4 9783809 9783809 + Missense_Mutation SNP C C G TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 4 9783809 9783809 C G SNP DRD5 ENST00000304374 human ensembl 74_37 +1 known missense c.156 p.I52M 1.000 prints_GPCR_Rhodpsn,prints_Dopamine_D5_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_D5_rcpt,prints_Dopamine_rcpt - no_errors DRD5 HGNC ENSG00000169676 31 0 0 29 10 25.641 PCDHA1 0 genome.wustl.edu 37 5 140168105 140168105 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 5 140168105 140168105 G A SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known missense c.2230 p.A744T 0.004 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 58 0 0 45 13 22.4138 PCDHGA5 0 genome.wustl.edu 37 5 140744135 140744135 + Nonsense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 5 140744135 140744135 C T SNP PCDHGA5 ENST00000518069 human ensembl 74_37 +1 known nonsense c.238 p.R80* 0.001 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC ENSG00000253485 148 0 0 165 29 14.9485 PCDHGA6 0 genome.wustl.edu 37 5 140754857 140754857 + Nonsense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 5 140754857 140754857 C T SNP PCDHGA6 ENST00000517434 human ensembl 74_37 +1 known nonsense c.1207 p.R403* 0.056 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 PCDHGA6 HGNC ENSG00000253731 92 0 0 93 18 16.2162 NDST1 0 genome.wustl.edu 37 5 149932953 149932953 + RNA SNP T T A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 5 149932953 149932953 T A SNP NDST1 ENST00000521752 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors NDST1 HGNC ENSG00000070614 243 0 0 163 140 46.2046 FAM71B 0 genome.wustl.edu 37 5 156590250 156590250 + Missense_Mutation SNP G G T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 5 156590250 156590250 G T SNP FAM71B ENST00000302938 human ensembl 74_37 -1 known missense c.1026 p.S342R 0.000 NULL pfam_DUF3699 - no_errors FAM71B HGNC ENSG00000170613 165 0 0 114 22 16.1765 DOCK2 0 genome.wustl.edu 37 5 169469088 169469088 + Silent SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 5 169469088 169469088 G A SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known silent c.3828 p.L1276 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 39 0 0 32 11 25.5814 DOCK2 0 genome.wustl.edu 37 5 169494638 169494638 + Missense_Mutation SNP T T C TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 5 169494638 169494638 T C SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.4592 p.L1531P 1.000 pfam_DOCK_C pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 145 0 0 141 36 20.339 DOCK2 0 genome.wustl.edu 37 5 169504824 169504824 + Missense_Mutation SNP C C A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 5 169504824 169504824 C A SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.4977 p.S1659R 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 67 0 0 53 26 32.9114 CPEB4 0 genome.wustl.edu 37 5 173378844 173378844 + Missense_Mutation SNP G G T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 5 173378844 173378844 G T SNP CPEB4 ENST00000265085 human ensembl 74_37 +1 known missense c.1683 p.W561C 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB4 HGNC ENSG00000113742 76 0 0 43 33 43.4211 ZFP2 0 genome.wustl.edu 37 5 178359618 178359618 + Missense_Mutation SNP A A G TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 5 178359618 178359618 A G SNP ZFP2 ENST00000361362 human ensembl 74_37 +1 known missense c.1304 p.E435G 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP2 HGNC ENSG00000198939 99 0 0 58 43 42.5743 TBC1D9B 0 genome.wustl.edu 37 5 179315209 179315209 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 5 179315209 179315209 C T SNP TBC1D9B ENST00000356834 human ensembl 74_37 -1 known missense c.1148 p.R383H 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9B HGNC ENSG00000197226 231 0 0 151 116 43.4457 ADAMTS12 0 genome.wustl.edu 37 5 33577248 33577248 + Silent SNP A A G TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 5 33577248 33577248 A G SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known silent c.2883 p.G961 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 157 0 0 152 8 5 SLC1A3 0 genome.wustl.edu 37 5 36684095 36684095 + Missense_Mutation SNP G G T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 5 36684095 36684095 G T SNP SLC1A3 ENST00000265113 human ensembl 74_37 +1 known missense c.1419 p.W473C 1.000 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A3 HGNC ENSG00000079215 158 0 0 110 61 35.6725 HCN1 0 genome.wustl.edu 37 5 45262221 45262221 + Silent SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 5 45262221 45262221 C T SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known silent c.2475 p.T825 0.006 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 70 0 0 51 21 29.1667 MAP1B 0 genome.wustl.edu 37 5 71493006 71493006 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 5 71493006 71493006 G A SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known missense c.3824 p.R1275H 0.999 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 89 0 0 60 41 40.5941 ZNF366 0 genome.wustl.edu 37 5 71756781 71756781 + Silent SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 5 71756781 71756781 G A SNP ZNF366 ENST00000318442 human ensembl 74_37 -1 known silent c.543 p.H181 0.995 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF366 HGNC ENSG00000178175 214 0 0 206 39 15.9184 PARK2 0 genome.wustl.edu 37 6 162394349 162394349 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 6 162394349 162394349 G A SNP PARK2 ENST00000366898 human ensembl 74_37 -1 known missense c.719 p.T240M 0.715 pirsf_Parkin,prints_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 91 0 0 83 7 7.77778 SMOC2 0 genome.wustl.edu 37 6 168927051 168927051 + Missense_Mutation SNP G G C TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 6 168927051 168927051 G C SNP SMOC2 ENST00000354536 human ensembl 74_37 +1 known missense c.282 p.R94S 1.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_EF_hand_dom,pfscan_Thyroglobulin_1 - no_errors SMOC2 HGNC ENSG00000112562 72 0 0 107 16 13.0081 LRCH4 0 genome.wustl.edu 37 7 100172852 100172852 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 7 100172852 100172852 G A SNP LRCH4 ENST00000310300 human ensembl 74_37 -1 known missense c.1930 p.R644W 0.746 smart_CH-domain pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH4 HGNC ENSG00000077454 16 0 0 8 7 46.6667 RELN 0 genome.wustl.edu 37 7 103234860 103234860 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 7 103234860 103234860 C T SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.3619 p.E1207K 1.000 superfamily_Growth_fac_rcpt_N_dom pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 350 0 0 223 257 53.5417 PIK3CG 0 genome.wustl.edu 37 7 106545598 106545598 + Silent SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 7 106545598 106545598 C T SNP PIK3CG ENST00000359195 human ensembl 74_37 +1 known silent c.3075 p.N1025 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC ENSG00000105851 230 0 0 308 37 10.7246 MIR490 0 genome.wustl.edu 37 7 136587920 136587920 + RNA SNP C C A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 7 136587920 136587920 C A SNP MIR490 ENST00000384865 human ensembl 74_37 +1 known rna NULL NULL 0.422 - - - no_errors MIR490 HGNC ENSG00000207597 154 1 0.645161 175 69 28.2787 CHRM2 0 genome.wustl.edu 37 7 136699991 136699991 + Missense_Mutation SNP A A G TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 7 136699991 136699991 A G SNP CHRM2 ENST00000320658 human ensembl 74_37 +1 known missense c.379 p.K127E 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 172 0 0 177 38 17.6744 HECW1 0 genome.wustl.edu 37 7 43351573 43351573 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 7 43351573 43351573 C T SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known missense c.239 p.T80M 1.000 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 103 0 0 61 78 56.1151 PCLO 0 genome.wustl.edu 37 7 82584626 82584626 + Silent SNP T T C TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 7 82584626 82584626 T C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.5643 p.Q1881 0.964 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 72 0 0 80 9 10.1124 TRRAP 0 genome.wustl.edu 37 7 98522858 98522858 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 7 98522858 98522858 G A SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.2947 p.A983T 0.976 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 133 0 0 188 83 30.6273 RIMS2 0 genome.wustl.edu 37 8 104955138 104955138 + Silent SNP A A G TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 8 104955138 104955138 A G SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known silent c.2685 p.P895 0.907 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 82 0 0 146 17 10.4294 C8orf31 0 genome.wustl.edu 37 8 144126205 144126205 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 8 144126205 144126205 C T SNP C8orf31 ENST00000395172 human ensembl 74_37 +1 known missense c.326 p.A109V 0.003 NULL NULL - no_errors C8orf31 HGNC ENSG00000177335 36 0 0 81 12 12.9032 SCRT1 0 genome.wustl.edu 37 8 145557341 145557341 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 8 145557341 145557341 C T SNP SCRT1 ENST00000332135 human ensembl 74_37 -1 known missense c.553 p.A185T 0.850 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SCRT1 HGNC ENSG00000170616 11 0 0 14 5 26.3158 TEX15 0 genome.wustl.edu 37 8 30699870 30699870 + Missense_Mutation SNP C C A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 8 30699870 30699870 C A SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known missense c.6664 p.D2222Y 1.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 178 0 0 246 44 15.1724 ADAM32 0 genome.wustl.edu 37 8 39080734 39080734 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 8 39080734 39080734 G A SNP ADAM32 ENST00000379907 human ensembl 74_37 +1 known missense c.1502 p.R501H 0.000 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM32 HGNC ENSG00000197140 20 0 0 21 14 40 RP1 0 genome.wustl.edu 37 8 55540977 55540977 + Missense_Mutation SNP A A C TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 8 55540977 55540977 A C SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.4535 p.K1512T 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 74 0 0 115 43 27.2152 CHD7 0 genome.wustl.edu 37 8 61778367 61778367 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 8 61778367 61778367 G A SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known missense c.8869 p.D2957N 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 45 0 0 38 22 36.6667 PREX2 0 genome.wustl.edu 37 8 69002885 69002885 + Nonsense_Mutation SNP A A T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 8 69002885 69002885 A T SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known nonsense c.2185 p.K729* 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ 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 112 0 0 82 129 61.1374 TRPA1 0 genome.wustl.edu 37 8 72959382 72959382 + Splice_Site SNP C C A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 8 72959382 72959382 C A SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known splice_site c.1965+1 e16+1 1.000 - - - no_errors TRPA1 HGNC ENSG00000104321 68 0 0 158 22 12.2222 ZNF704 0 genome.wustl.edu 37 8 81553607 81553607 + Silent SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 8 81553607 81553607 G A SNP ZNF704 ENST00000327835 human ensembl 74_37 -1 known silent c.1233 p.L411 0.123 NULL pfscan_Znf_C2H2 - no_errors ZNF704 HGNC ENSG00000164684 27 0 0 47 9 16.0714 COL15A1 0 genome.wustl.edu 37 9 101706323 101706323 + RNA SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 9 101706323 101706323 G A SNP COL15A1 ENST00000467052 human ensembl 74_37 +1 putative rna NULL NULL 0.070 - - - no_errors COL15A1 HGNC ENSG00000204291 68 0 0 61 15 19.7368 ASTN2 0 genome.wustl.edu 37 9 119858332 119858332 + Missense_Mutation SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 9 119858332 119858332 G A SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.1267 p.R423C 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 81 0 0 72 41 36.2832 LAMC3 0 genome.wustl.edu 37 9 133936523 133936523 + Missense_Mutation SNP C C A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 9 133936523 133936523 C A SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known missense c.2260 p.P754T 1.000 smart_EG-like_dom,pfscan_EGF_laminin 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 38 0 0 31 19 38 RALGDS 0 genome.wustl.edu 37 9 135978249 135978249 + Silent SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 9 135978249 135978249 C T SNP RALGDS ENST00000542690 human ensembl 74_37 -1 known silent c.2043 p.S681 0.546 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RALGDS HGNC ENSG00000160271 34 0 0 31 22 41.5094 COL5A1 0 genome.wustl.edu 37 9 137734065 137734065 + Silent SNP C C A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 9 137734065 137734065 C A SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known silent c.5433 p.P1811 0.993 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 74 0 0 88 18 16.9811 GRHPR 0 genome.wustl.edu 37 9 37422818 37422818 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 9 37422818 37422818 C T SNP GRHPR ENST00000318158 human ensembl 74_37 +1 known missense c.71 p.A24V 0.822 pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd - no_errors GRHPR HGNC ENSG00000137106 13 0 0 10 8 44.4444 DOCK11 0 genome.wustl.edu 37 X 117748655 117748655 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 X 117748655 117748655 C T SNP DOCK11 ENST00000276202 human ensembl 74_37 +1 known missense c.3097 p.R1033C 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 166 0 0 181 73 28.7402 IGSF1 0 genome.wustl.edu 37 X 130419221 130419221 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 X 130419221 130419221 C T SNP IGSF1 ENST00000370903 human ensembl 74_37 -1 known missense c.599 p.R200H 1.000 smart_Ig_sub,smart_Ig_sub2 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF1 HGNC ENSG00000147255 204 0 0 156 98 38.5827 CDKL5 0 genome.wustl.edu 37 X 18671592 18671592 + Silent SNP G G T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 X 18671592 18671592 G T SNP CDKL5 ENST00000379989 human ensembl 74_37 +1 known silent c.3021 p.L1007 0.000 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 CDKL5 HGNC ENSG00000008086 55 0 0 68 15 18.0723 MAGEB6 0 genome.wustl.edu 37 X 26212639 26212639 + Missense_Mutation SNP C C T TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 X 26212639 26212639 C T SNP MAGEB6 ENST00000379034 human ensembl 74_37 +1 known missense c.676 p.R226C 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB6 HGNC ENSG00000176746 119 0 0 68 92 57.5 ZNF81 0 genome.wustl.edu 37 X 47775487 47775487 + Missense_Mutation SNP C C A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 X 47775487 47775487 C A SNP ZNF81 ENST00000338637 human ensembl 74_37 +1 known missense c.1442 p.S481Y 0.980 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 ZNF81 HGNC ENSG00000197779 113 0 0 118 40 25.3165 ENSG00000232593 0 genome.wustl.edu 37 X 53171977 53171977 + RNA SNP G G A TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 X 53171977 53171977 G A SNP ENSG00000232593 ENST00000604849 human ensembl 74_37 +1 known rna NULL NULL 0.200 - - - no_errors RP11-258C19.5 Clone_based_vega_gene ENSG00000232593 23 0 0 40 7 14.8936 TRIM51HP 0 genome.wustl.edu 37 11 55065032 55065032 + RNA DEL T T - TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 11 55065032 55065032 T - DEL TRIM51HP ENST00000526016 human ensembl 74_37 -1 putative rna NULL NULL 0.010 - - - no_errors TRIM51HP HGNC ENSG00000166007 64 0 0 68 14 17.0732 PODXL 0 genome.wustl.edu 37 7 131241030 131241035 + In_Frame_Del DEL GGCGAC GGCGAC - TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 GGCGAC GGCGAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 7 131241030 131241035 GGCGAC - DEL PODXL ENST00000541194 human ensembl 74_37 -1 known in_frame_del c.89_84 p.PS30in_frame_del 0.003:0.005:0.005:0.006:0.006:0.006 pirsf_Podocalyxin-like_p1 pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1 - no_errors PODXL HGNC ENSG00000128567 8 0 0 9 6 40 PTGDS 0 genome.wustl.edu 37 9 139875318 139875319 + RNA INS - - CATT TCGA-BR-4371-01A-01D-1158-08 TCGA-BR-4371-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 959629fa-0d96-4774-a99c-c5103a42d8d8 158777de-8f13-42b8-847c-a5951a7246a2 9 139875318 139875319 - CATT INS PTGDS ENST00000462514 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors PTGDS HGNC ENSG00000107317 24 0 0 30 7 18.9189