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 SLAMF9 0 genome.wustl.edu 37 1 159923305 159923305 + Missense_Mutation SNP G G C TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 1 159923305 159923305 G C SNP SLAMF9 ENST00000368093 human ensembl 74_37 -1 known missense c.185 p.A62G 0.182 pfam_Ig_V-set pfam_Ig_V-set,pfscan_Ig-like_dom - no_errors SLAMF9 HGNC ENSG00000162723 129 0 0 115 12 9.44882 HMCN1 0 genome.wustl.edu 37 1 185976303 185976303 + Missense_Mutation SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 1 185976303 185976303 G A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.4519 p.G1507R 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 98 0 0 137 25 15.4321 HMCN1 0 genome.wustl.edu 37 1 186147734 186147734 + Missense_Mutation SNP C C A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 1 186147734 186147734 C A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.16130 p.P5377H 1.000 superfamily_Growth_fac_rcpt_N_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 343 0 0 359 58 13.9089 FAIM3 0 genome.wustl.edu 37 1 207085193 207085193 + Missense_Mutation SNP C C T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 1 207085193 207085193 C T SNP FAIM3 ENST00000367091 human ensembl 74_37 -1 known missense c.592 p.G198S 0.000 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub - no_errors FAIM3 HGNC ENSG00000162894 83 0 0 77 15 16.3043 OR2T12 0 genome.wustl.edu 37 1 248458297 248458297 + Missense_Mutation SNP T T G TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 1 248458297 248458297 T G SNP OR2T12 ENST00000317996 human ensembl 74_37 -1 known missense c.584 p.N195T 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T12 HGNC ENSG00000177201 108 0 0 112 11 8.94309 TIE1 0 genome.wustl.edu 37 1 43777368 43777368 + Missense_Mutation SNP C C T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 1 43777368 43777368 C T SNP TIE1 ENST00000372476 human ensembl 74_37 +1 known missense c.1360 p.R454W 0.353 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 135 0 0 135 13 8.78378 SLC1A7 0 genome.wustl.edu 37 1 53580580 53580580 + Missense_Mutation SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 1 53580580 53580580 G A SNP SLC1A7 ENST00000371494 human ensembl 74_37 -1 known missense c.281 p.A94V 1.000 pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A7 HGNC ENSG00000162383 74 0 0 57 7 10.9375 KCNAB2 0 genome.wustl.edu 37 1 6100663 6100663 + Missense_Mutation SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 1 6100663 6100663 G A SNP KCNAB2 ENST00000164247 human ensembl 74_37 +1 known missense c.35 p.R12Q 1.000 prints_K_chnl_volt-dep_bsu_KCNAB2 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB2,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB2 HGNC ENSG00000069424 86 0 0 94 13 12.1495 RPF1 0 genome.wustl.edu 37 1 84961055 84961055 + Splice_Site SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 1 84961055 84961055 G A SNP RPF1 ENST00000370654 human ensembl 74_37 +1 known splice_site c.617-1 e6-1 1.000 - - - no_errors RPF1 HGNC ENSG00000117133 25 0 0 43 11 20.3704 PAX2 0 genome.wustl.edu 37 10 102509565 102509565 + Missense_Mutation SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 10 102509565 102509565 G A SNP PAX2 ENST00000370296 human ensembl 74_37 +1 known missense c.106 p.V36M 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX2 HGNC ENSG00000075891 101 0 0 76 15 16.4835 GPR26 0 genome.wustl.edu 37 10 125434390 125434390 + Missense_Mutation SNP A A C TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 10 125434390 125434390 A C SNP GPR26 ENST00000284674 human ensembl 74_37 +1 known missense c.725 p.K242T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR26 HGNC ENSG00000154478 59 0 0 75 7 8.53659 ZNF248 0 genome.wustl.edu 37 10 38121917 38121917 + Silent SNP A A C TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 10 38121917 38121917 A C SNP ZNF248 ENST00000357328 human ensembl 74_37 -1 known silent c.366 p.T122 0.005 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF248 HGNC ENSG00000198105 56 0 0 92 17 15.5963 LRRTM3 0 genome.wustl.edu 37 10 68686999 68686999 + Missense_Mutation SNP C C T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 10 68686999 68686999 C T SNP LRRTM3 ENST00000361320 human ensembl 74_37 +1 known missense c.325 p.R109C 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM3 HGNC ENSG00000198739 120 0 0 216 55 20.2952 SYT7 0 genome.wustl.edu 37 11 61318865 61318865 + Missense_Mutation SNP T T G TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 11 61318865 61318865 T G SNP SYT7 ENST00000263846 human ensembl 74_37 -1 known missense c.206 p.K69T 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT7 HGNC ENSG00000011347 163 0 0 141 12 7.84314 VPS51 0 genome.wustl.edu 37 11 64876215 64876215 + Silent SNP C C T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 11 64876215 64876215 C T SNP VPS51 ENST00000279281 human ensembl 74_37 +1 known silent c.1272 p.D424 0.992 NULL pfam_COG8,pfam_Vacuolar_sorting-assoc_54,pfam_COG_su2_N,pfam_RZZ-complex_Zw10,superfamily_Cullin_repeat-like_dom - no_errors VPS51 HGNC ENSG00000149823 41 0 0 37 3 7.5 DLG2 0 genome.wustl.edu 37 11 83676442 83676442 + Missense_Mutation SNP C C A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 11 83676442 83676442 C A SNP DLG2 ENST00000376104 human ensembl 74_37 -1 known missense c.1126 p.V376L 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG2 HGNC ENSG00000150672 109 0 0 212 18 7.82609 UTP20 0 genome.wustl.edu 37 12 101776959 101776959 + Silent SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 12 101776959 101776959 G A SNP UTP20 ENST00000261637 human ensembl 74_37 +1 known silent c.7797 p.A2599 0.000 NULL pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 55 0 0 80 9 10.1124 TAS2R13 0 genome.wustl.edu 37 12 11061014 11061014 + Missense_Mutation SNP A A C TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 12 11061014 11061014 A C SNP TAS2R13 ENST00000390677 human ensembl 74_37 -1 known missense c.884 p.V295G 0.019 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R13 HGNC ENSG00000212128 81 0 0 113 17 13.0769 RAB35 0 genome.wustl.edu 37 12 120534926 120534926 + Missense_Mutation SNP C C T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 12 120534926 120534926 C T SNP RAB35 ENST00000432953 human ensembl 74_37 -1 known missense c.124 p.V42I 0.997 NULL NULL - no_errors RAB35 HGNC ENSG00000111737 24 0 0 19 4 17.3913 DAZAP2 0 genome.wustl.edu 37 12 51636252 51636252 + Missense_Mutation SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 12 51636252 51636252 G A SNP DAZAP2 ENST00000549555 human ensembl 74_37 +1 known missense c.440 p.G147D 0.999 NULL pfam_DAZ_assoc-2 - no_errors DAZAP2 HGNC ENSG00000183283 173 0 0 146 32 17.9775 MLF2 0 genome.wustl.edu 37 12 6858088 6858088 + Missense_Mutation SNP C C T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 12 6858088 6858088 C T SNP MLF2 ENST00000203630 human ensembl 74_37 -1 known missense c.620 p.R207H 0.999 NULL pfam_Myeloid_leukemia_factor - no_errors MLF2 HGNC ENSG00000089693 33 0 0 33 3 8.33333 UPF3A 0 genome.wustl.edu 37 13 115047559 115047559 + Silent SNP C C T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 13 115047559 115047559 C T SNP UPF3A ENST00000375299 human ensembl 74_37 +1 known silent c.271 p.L91 1.000 pfam_Nonsense_mediated_decay_UPF3 pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3A HGNC ENSG00000169062 15 0 0 16 4 20 FNDC3A 0 genome.wustl.edu 37 13 49777299 49777299 + Missense_Mutation SNP A A G TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 13 49777299 49777299 A G SNP FNDC3A ENST00000492622 human ensembl 74_37 +1 known missense c.3161 p.K1054R 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3A HGNC ENSG00000102531 34 0 0 55 15 21.4286 CEP170B 0 genome.wustl.edu 37 14 105353089 105353089 + Missense_Mutation SNP T T G TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 14 105353089 105353089 T G SNP CEP170B ENST00000453495 human ensembl 74_37 +1 known missense c.2516 p.V839G 0.094 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170B HGNC ENSG00000099814 100 0 0 100 9 8.25688 JAG2 0 genome.wustl.edu 37 14 105613026 105613026 + Missense_Mutation SNP C C T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 14 105613026 105613026 C T SNP JAG2 ENST00000331782 human ensembl 74_37 -1 known missense c.2515 p.G839R 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C - no_errors JAG2 HGNC ENSG00000184916 46 0 0 60 9 13.0435 CTSG 0 genome.wustl.edu 37 14 25043976 25043976 + Missense_Mutation SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 14 25043976 25043976 G A SNP CTSG ENST00000216336 human ensembl 74_37 -1 known missense c.244 p.R82W 0.000 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 CTSG HGNC ENSG00000100448 117 0 0 144 16 10 DNM1P47 0 genome.wustl.edu 37 15 102304883 102304883 + RNA SNP C C G TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 15 102304883 102304883 C G SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 31 0 0 35 4 10.2564 SCAMP5 0 genome.wustl.edu 37 15 75310759 75310759 + Silent SNP C C T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 15 75310759 75310759 C T SNP SCAMP5 ENST00000562212 human ensembl 74_37 +1 known silent c.420 p.S140 0.958 pfam_SCAMP pfam_SCAMP - no_errors SCAMP5 HGNC ENSG00000198794 201 0 0 251 42 14.3345 ISL2 0 genome.wustl.edu 37 15 76629257 76629257 + Silent SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 15 76629257 76629257 G A SNP ISL2 ENST00000290759 human ensembl 74_37 +1 known silent c.33 p.L11 1.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors ISL2 HGNC ENSG00000159556 337 0 0 424 45 9.59488 ADAMTS7 0 genome.wustl.edu 37 15 79051843 79051843 + Missense_Mutation SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 15 79051843 79051843 G A SNP ADAMTS7 ENST00000388820 human ensembl 74_37 -1 known missense c.4981 p.R1661C 0.993 pfscan_PLAC pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 22 0 0 33 3 8.33333 OTOA 0 genome.wustl.edu 37 16 21693073 21693073 + Missense_Mutation SNP C C T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 16 21693073 21693073 C T SNP OTOA ENST00000286149 human ensembl 74_37 +1 known missense c.194 p.T65M 0.958 NULL NULL - no_errors OTOA HGNC ENSG00000155719 77 0 0 73 8 9.87654 PLK1 0 genome.wustl.edu 37 16 23700042 23700042 + Missense_Mutation SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 16 23700042 23700042 G A SNP PLK1 ENST00000300093 human ensembl 74_37 +1 known missense c.1246 p.D416N 1.000 NULL pfam_Prot_kinase_dom,pfam_POLO_box_duplicated_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_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK1 HGNC ENSG00000166851 138 0 0 134 19 12.4183 RRN3P2 0 genome.wustl.edu 37 16 29110458 29110458 + RNA SNP T T C TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 16 29110458 29110458 T C SNP RRN3P2 ENST00000427965 human ensembl 74_37 +1 known rna NULL NULL 0.991 - - - no_errors RRN3P2 HGNC ENSG00000103472 47 0 0 68 4 5.55556 TOX3 0 genome.wustl.edu 37 16 52473872 52473872 + Silent SNP A A G TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 16 52473872 52473872 A G SNP TOX3 ENST00000219746 human ensembl 74_37 -1 known silent c.996 p.A332 0.723 superfamily_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX3 HGNC ENSG00000103460 87 0 0 70 11 13.5802 STUB1 0 genome.wustl.edu 37 16 731247 731247 + Silent SNP C C T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 16 731247 731247 C T SNP STUB1 ENST00000219548 human ensembl 74_37 +1 known silent c.255 p.R85 0.850 pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_Ubox_domain,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ubox_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors STUB1 HGNC ENSG00000103266 47 0 0 31 5 13.8889 PKD1L2 0 genome.wustl.edu 37 16 81134713 81134713 + RNA SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 16 81134713 81134713 G A SNP PKD1L2 ENST00000534142 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors PKD1L2 HGNC ENSG00000166473 103 0 0 93 14 13.0841 MYH2 0 genome.wustl.edu 37 17 10432167 10432167 + Missense_Mutation SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 17 10432167 10432167 G A SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.3584 p.A1195V 0.998 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 177 1 0.561798 248 40 13.8889 TAF15 0 genome.wustl.edu 37 17 34173908 34173908 + Splice_Site SNP A A T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 17 34173908 34173908 A T SNP TAF15 ENST00000588240 human ensembl 74_37 +1 known splice_site c.1740-2 e16-2 1.000 - - - no_errors TAF15 HGNC ENSG00000172660 64 0 0 85 18 17.4757 ALOXE3 0 genome.wustl.edu 37 17 8018980 8018980 + Missense_Mutation SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 17 8018980 8018980 G A SNP ALOXE3 ENST00000318227 human ensembl 74_37 -1 known missense c.775 p.P259S 1.000 superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C - no_errors ALOXE3 HGNC ENSG00000179148 100 0 0 104 7 6.30631 ASXL3 0 genome.wustl.edu 37 18 31322975 31322975 + Missense_Mutation SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 18 31322975 31322975 G A SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.3163 p.A1055T 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 42 0 0 36 9 20 MC4R 0 genome.wustl.edu 37 18 58038852 58038852 + Missense_Mutation SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 18 58038852 58038852 G A SNP MC4R ENST00000299766 human ensembl 74_37 -1 known missense c.731 p.A244V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_GPCR_Rhodpsn,prints_Melancort_rcpt,prints_Cnbnoid_rcpt - no_errors MC4R HGNC ENSG00000166603 88 0 0 113 12 9.6 ZCCHC2 0 genome.wustl.edu 37 18 60241908 60241908 + Missense_Mutation SNP C C T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 18 60241908 60241908 C T SNP ZCCHC2 ENST00000269499 human ensembl 74_37 +1 known missense c.2594 p.T865M 1.000 NULL pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC2 HGNC ENSG00000141664 163 1 0.609756 170 30 15 SERPINB3 0 genome.wustl.edu 37 18 61326660 61326660 + Silent SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 18 61326660 61326660 G A SNP SERPINB3 ENST00000283752 human ensembl 74_37 -1 known silent c.324 p.F108 0.050 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB3 HGNC ENSG00000057149 113 0 0 208 20 8.77193 ZNF236 0 genome.wustl.edu 37 18 74627680 74627680 + Missense_Mutation SNP C C A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 18 74627680 74627680 C A SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known missense c.3133 p.H1045N 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 114 1 0.869565 106 15 12.3967 HMHA1 0 genome.wustl.edu 37 19 1073169 1073169 + Missense_Mutation SNP C C T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 19 1073169 1073169 C T SNP HMHA1 ENST00000313093 human ensembl 74_37 +1 known missense c.443 p.P148L 0.992 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors HMHA1 HGNC ENSG00000180448 204 0 0 165 26 13.6126 ZNF568 0 genome.wustl.edu 37 19 37440540 37440540 + Missense_Mutation SNP T T G TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 19 37440540 37440540 T G SNP ZNF568 ENST00000333987 human ensembl 74_37 +1 known missense c.485 p.F162C 0.003 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF568 HGNC ENSG00000198453 70 0 0 101 21 17.2131 PRX 0 genome.wustl.edu 37 19 40899953 40899953 + Missense_Mutation SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 19 40899953 40899953 G A SNP PRX ENST00000324001 human ensembl 74_37 -1 known missense c.4306 p.R1436W 0.995 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 110 0 0 109 11 9.16667 NLRP4 0 genome.wustl.edu 37 19 56392864 56392864 + Missense_Mutation SNP A A G TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 19 56392864 56392864 A G SNP NLRP4 ENST00000301295 human ensembl 74_37 +1 known missense c.2896 p.T966A 0.175 NULL 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 34 0 0 59 5 7.8125 ZNF787 0 genome.wustl.edu 37 19 56599506 56599506 + Silent SNP C C T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 19 56599506 56599506 C T SNP ZNF787 ENST00000270459 human ensembl 74_37 -1 known silent c.1035 p.S345 0.033 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF787 HGNC ENSG00000142409 28 0 0 27 6 18.1818 ZNF446 0 genome.wustl.edu 37 19 58991586 58991586 + Missense_Mutation SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 19 58991586 58991586 G A SNP ZNF446 ENST00000335841 human ensembl 74_37 +1 putative missense c.761 p.R254H 0.001 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN - no_errors ZNF446 HGNC ENSG00000083838 19 0 0 30 6 16.6667 RALB 0 genome.wustl.edu 37 2 121036307 121036307 + Missense_Mutation SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 2 121036307 121036307 G A SNP RALB ENST00000474855 human ensembl 74_37 +1 known missense c.133 p.G45R 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RALB HGNC ENSG00000144118 77 0 0 65 11 14.4737 LRP2 0 genome.wustl.edu 37 2 170038826 170038826 + Missense_Mutation SNP C C A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 2 170038826 170038826 C A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.9849 p.K3283N 0.905 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_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 121 0 0 160 20 11.1111 HOXD10 0 genome.wustl.edu 37 2 176981590 176981590 + Missense_Mutation SNP C C A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 2 176981590 176981590 C A SNP HOXD10 ENST00000249501 human ensembl 74_37 +1 known missense c.29 p.A10D 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXD10 HGNC ENSG00000128710 150 1 0.662252 177 26 12.8079 TTN 0 genome.wustl.edu 37 2 179455043 179455043 + Missense_Mutation SNP A A G TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 2 179455043 179455043 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.53705 p.I17902T 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 104 0 0 145 29 16.6667 CASP8 0 genome.wustl.edu 37 2 202150039 202150039 + Nonsense_Mutation SNP C C T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 2 202150039 202150039 C T SNP CASP8 ENST00000358485 human ensembl 74_37 +1 known nonsense c.1480 p.R494* 0.956 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10 pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP8 HGNC ENSG00000064012 105 0 0 121 18 12.9496 RQCD1 0 genome.wustl.edu 37 2 219458966 219458966 + Silent SNP C C T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 2 219458966 219458966 C T SNP RQCD1 ENST00000509807 human ensembl 74_37 +1 known silent c.963 p.T321 0.201 NULL pfam_Rcd1,superfamily_ARM-type_fold - no_errors RQCD1 HGNC ENSG00000144580 40 0 0 25 11 30.5556 FAM161A 0 genome.wustl.edu 37 2 62066680 62066680 + Missense_Mutation SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 2 62066680 62066680 G A SNP FAM161A ENST00000405894 human ensembl 74_37 -1 known missense c.1459 p.R487C 0.998 pfam_UPF0564 pfam_UPF0564 - no_errors FAM161A HGNC ENSG00000170264 78 0 0 74 21 22.1053 AFTPH 0 genome.wustl.edu 37 2 64778716 64778716 + Missense_Mutation SNP A A C TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 2 64778716 64778716 A C SNP AFTPH ENST00000422803 human ensembl 74_37 +1 known missense c.108 p.E36D 1.000 NULL NULL - no_errors AFTPH HGNC ENSG00000119844 165 0 0 245 38 13.4276 FRG1B 0 genome.wustl.edu 37 20 29625934 29625934 + Missense_Mutation SNP C C T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 20 29625934 29625934 C T SNP FRG1B ENST00000278882 human ensembl 74_37 +1 known missense c.178 p.H60Y 1.000 pfam_FRG1,superfamily_Actin_cross-linking pfam_FRG1,superfamily_Actin_cross-linking - no_errors FRG1B HGNC ENSG00000149531 112 1 0.884956 213 15 6.57895 HCK 0 genome.wustl.edu 37 20 30686878 30686878 + Missense_Mutation SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 20 30686878 30686878 G A SNP HCK ENST00000375852 human ensembl 74_37 +1 known missense c.1318 p.V440I 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,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 HCK HGNC ENSG00000101336 276 0 0 356 41 10.3275 ARFGEF2 0 genome.wustl.edu 37 20 47645175 47645175 + Missense_Mutation SNP C C T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 20 47645175 47645175 C T SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known missense c.5033 p.S1678F 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 48 0 0 62 7 10.1449 C20orf195 0 genome.wustl.edu 37 20 62187047 62187047 + Missense_Mutation SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 20 62187047 62187047 G A SNP C20orf195 ENST00000370097 human ensembl 74_37 +1 known missense c.31 p.D11N 0.228 NULL superfamily_Fibronectin_type3 - no_errors C20orf195 HGNC ENSG00000125531 54 0 0 37 6 13.9535 BMS1P20 0 genome.wustl.edu 37 22 22663087 22663087 + RNA SNP A A G TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 22 22663087 22663087 A G SNP BMS1P20 ENST00000426066 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors BMS1P20 HGNC ENSG00000236850 32 0 0 53 7 11.6667 RASD2 0 genome.wustl.edu 37 22 35942983 35942983 + Missense_Mutation SNP C C T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 22 35942983 35942983 C T SNP RASD2 ENST00000216127 human ensembl 74_37 +1 known missense c.127 p.R43C 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RASD2 HGNC ENSG00000100302 39 0 0 40 10 20 TCF20 0 genome.wustl.edu 37 22 42610498 42610498 + Missense_Mutation SNP A A T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 22 42610498 42610498 A T SNP TCF20 ENST00000359486 human ensembl 74_37 -1 known missense c.814 p.Y272N 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 175 0 0 236 34 12.5926 DENND6B 0 genome.wustl.edu 37 22 50752640 50752640 + Missense_Mutation SNP C C A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 22 50752640 50752640 C A SNP DENND6B ENST00000413817 human ensembl 74_37 -1 known missense c.1134 p.K378N 0.997 pfam_Afi1_N pfam_Afi1_N,pfam_DENN_dom,pfam_ABL9/DENND6_dom - no_errors DENND6B HGNC ENSG00000205593 55 0 0 32 5 13.5135 CIDECP 0 genome.wustl.edu 37 3 10065217 10065217 + RNA SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 3 10065217 10065217 G A SNP CIDECP ENST00000335507 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors CIDECP HGNC ENSG00000186162 41 0 0 34 7 17.0732 SLC6A1 0 genome.wustl.edu 37 3 11078556 11078556 + Missense_Mutation SNP A A C TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 3 11078556 11078556 A C SNP SLC6A1 ENST00000287766 human ensembl 74_37 +1 known missense c.1704 p.Q568H 1.000 NULL pfam_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT1,pfscan_Na/ntran_symport - no_errors SLC6A1 HGNC ENSG00000157103 97 0 0 111 14 11.2 TMEM108 0 genome.wustl.edu 37 3 132948168 132948168 + Missense_Mutation SNP T T G TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 3 132948168 132948168 T G SNP TMEM108 ENST00000321871 human ensembl 74_37 +1 known missense c.13 p.L5V 1.000 NULL NULL - no_errors TMEM108 HGNC ENSG00000144868 72 0 0 115 18 13.5338 PIK3CB 0 genome.wustl.edu 37 3 138426123 138426123 + Missense_Mutation SNP C C T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 3 138426123 138426123 C T SNP PIK3CB ENST00000289153 human ensembl 74_37 -1 known missense c.1408 p.E470K 1.000 pfam_PI3K_C2_dom,superfamily_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,superfamily_ARM-type_fold,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 PIK3CB HGNC ENSG00000051382 19 0 0 47 9 16.0714 IGSF10 0 genome.wustl.edu 37 3 151165563 151165563 + Missense_Mutation SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 3 151165563 151165563 G A SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.2206 p.R736C 0.001 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 61 0 0 73 9 10.9756 VPS8 0 genome.wustl.edu 37 3 184675267 184675267 + Silent SNP T T C TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 3 184675267 184675267 T C SNP VPS8 ENST00000287546 human ensembl 74_37 +1 known silent c.3141 p.T1047 0.001 superfamily_Quinonprotein_ADH-like_supfam superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors VPS8 HGNC ENSG00000156931 23 0 0 32 5 13.5135 SCN10A 0 genome.wustl.edu 37 3 38753882 38753882 + Missense_Mutation SNP C C T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 3 38753882 38753882 C T SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.3859 p.V1287I 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 202 0 0 206 26 11.2069 NKTR 0 genome.wustl.edu 37 3 42679964 42679964 + Missense_Mutation SNP G G T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 3 42679964 42679964 G T SNP NKTR ENST00000232978 human ensembl 74_37 +1 known missense c.2768 p.S923I 0.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 68 0 0 77 13 14.4444 BOD1L1 0 genome.wustl.edu 37 4 13617045 13617045 + Silent SNP C C T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 4 13617045 13617045 C T SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known silent c.450 p.Q150 1.000 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 131 0 0 160 29 15.3439 HHIP 0 genome.wustl.edu 37 4 145568031 145568031 + Silent SNP G G T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 4 145568031 145568031 G T SNP HHIP ENST00000296575 human ensembl 74_37 +1 known silent c.204 p.L68 0.997 pfam_Folate_rcpt-like pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HHIP HGNC ENSG00000164161 77 0 0 78 9 10.3448 SLIT2 0 genome.wustl.edu 37 4 20555436 20555436 + Missense_Mutation SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 4 20555436 20555436 G A SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.2570 p.G857E 1.000 NULL pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 62 0 0 115 20 14.8148 GABRB1 0 genome.wustl.edu 37 4 47427730 47427730 + Missense_Mutation SNP A A C TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 4 47427730 47427730 A C SNP GABRB1 ENST00000295454 human ensembl 74_37 +1 known missense c.1120 p.I374L 0.623 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB1 HGNC ENSG00000163288 171 0 0 158 24 13.1868 FRYL 0 genome.wustl.edu 37 4 48636414 48636414 + Missense_Mutation SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 4 48636414 48636414 G A SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.14 p.T5M 1.000 NULL superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 78 0 0 113 15 11.7188 UGT2A1 0 genome.wustl.edu 37 4 70513344 70513344 + Silent SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 4 70513344 70513344 G A SNP UGT2A1 ENST00000503640 human ensembl 74_37 -1 known silent c.19 p.L7 0.006 NULL pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2A1 HGNC ENSG00000173610 24 0 0 32 13 28.8889 PCDHA12 0 genome.wustl.edu 37 5 140255189 140255189 + Silent SNP C C T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 5 140255189 140255189 C T SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known silent c.132 p.F44 0.206 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 151 0 0 161 21 11.5385 PCDHGB7 0 genome.wustl.edu 37 5 140797832 140797832 + Missense_Mutation SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 5 140797832 140797832 G A SNP PCDHGB7 ENST00000398594 human ensembl 74_37 +1 known missense c.406 p.D136N 0.002 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 115 0 0 134 27 16.7702 PCDH1 0 genome.wustl.edu 37 5 141244950 141244950 + Missense_Mutation SNP C C T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 5 141244950 141244950 C T SNP PCDH1 ENST00000287008 human ensembl 74_37 -1 known missense c.946 p.E316K 0.989 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 160 0 0 151 29 16.1111 TRIO 0 genome.wustl.edu 37 5 14358426 14358426 + Missense_Mutation SNP A A C TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 5 14358426 14358426 A C SNP TRIO ENST00000344204 human ensembl 74_37 +1 known missense c.2186 p.K729T 1.000 smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 173 0 0 132 13 8.96552 LARS 0 genome.wustl.edu 37 5 145532787 145532787 + Silent SNP A A G TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 5 145532787 145532787 A G SNP LARS ENST00000394434 human ensembl 74_37 -1 known silent c.1234 p.L412 0.927 pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk - no_errors LARS HGNC ENSG00000133706 73 0 0 105 6 5.40541 IRX1 0 genome.wustl.edu 37 5 3596470 3596470 + Missense_Mutation SNP C C T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 5 3596470 3596470 C T SNP IRX1 ENST00000302006 human ensembl 74_37 +1 known missense c.251 p.A84V 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX1 HGNC ENSG00000170549 12 0 0 20 6 23.0769 FAM174A 0 genome.wustl.edu 37 5 99871538 99871538 + Nonsense_Mutation SNP G G T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 5 99871538 99871538 G T SNP FAM174A ENST00000312637 human ensembl 74_37 +1 known nonsense c.304 p.E102* 0.031 pfam_DUF1180 pfam_DUF1180 - no_errors FAM174A HGNC ENSG00000174132 36 0 0 45 6 11.7647 SOGA3 0 genome.wustl.edu 37 6 127837076 127837076 + Silent SNP T T C TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 6 127837076 127837076 T C SNP SOGA3 ENST00000368268 human ensembl 74_37 -1 known silent c.684 p.G228 0.004 NULL pfam_SOGA - no_errors SOGA3 HGNC ENSG00000214338 46 0 0 55 10 15.3846 TXLNB 0 genome.wustl.edu 37 6 139583902 139583902 + Silent SNP C C T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 6 139583902 139583902 C T SNP TXLNB ENST00000358430 human ensembl 74_37 -1 known silent c.696 p.A232 0.445 pfam_Taxilin_fam pfam_Taxilin_fam - no_errors TXLNB HGNC ENSG00000164440 70 0 0 78 14 15.2174 BTN1A1 0 genome.wustl.edu 37 6 26509108 26509108 + Missense_Mutation SNP A A C TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 6 26509108 26509108 A C SNP BTN1A1 ENST00000244513 human ensembl 74_37 +1 known missense c.1287 p.E429D 0.003 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-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 BTN1A1 HGNC ENSG00000124557 61 0 0 53 17 24.2857 PPP1R10 0 genome.wustl.edu 37 6 30570080 30570080 + Silent SNP G G T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 6 30570080 30570080 G T SNP PPP1R10 ENST00000376511 human ensembl 74_37 -1 known silent c.2346 p.R782 0.862 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 363 0 0 298 44 12.8655 PPP1R10 0 genome.wustl.edu 37 6 30570172 30570172 + Missense_Mutation SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 6 30570172 30570172 G A SNP PPP1R10 ENST00000376511 human ensembl 74_37 -1 known missense c.2254 p.R752C 0.055 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 278 0 0 274 48 14.9068 TJAP1 0 genome.wustl.edu 37 6 43473500 43473500 + Silent SNP C C T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 6 43473500 43473500 C T SNP TJAP1 ENST00000372445 human ensembl 74_37 +1 known silent c.1581 p.R527 0.275 NULL NULL - no_errors TJAP1 HGNC ENSG00000137221 30 0 0 10 4 28.5714 TBX18 0 genome.wustl.edu 37 6 85448240 85448240 + Missense_Mutation SNP T T A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 6 85448240 85448240 T A SNP TBX18 ENST00000369663 human ensembl 74_37 -1 known missense c.1074 p.E358D 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX18 HGNC ENSG00000112837 289 0 0 383 52 11.954 RELN 0 genome.wustl.edu 37 7 103151360 103151360 + Missense_Mutation SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 7 103151360 103151360 G A SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.8212 p.R2738W 1.000 superfamily_Sialidases 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 43 0 0 61 9 12.8571 DNAJB9 0 genome.wustl.edu 37 7 108212273 108212273 + Missense_Mutation SNP A A G TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 7 108212273 108212273 A G SNP DNAJB9 ENST00000249356 human ensembl 74_37 +1 known missense c.103 p.K35E 1.000 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB9 HGNC ENSG00000128590 172 0 0 279 29 9.41558 MKLN1 0 genome.wustl.edu 37 7 131148071 131148071 + Missense_Mutation SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 7 131148071 131148071 G A SNP MKLN1 ENST00000352689 human ensembl 74_37 +1 known missense c.1621 p.E541K 1.000 NULL pfam_Muskelin_N,pfam_Kelch_1,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_LisH_dimerisation,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors MKLN1 HGNC ENSG00000128585 105 0 0 194 27 12.2172 ZNF777 0 genome.wustl.edu 37 7 149129362 149129362 + Silent SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 7 149129362 149129362 G A SNP ZNF777 ENST00000247930 human ensembl 74_37 -1 known silent c.2001 p.P667 0.710 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF777 HGNC ENSG00000196453 273 0 0 249 86 25.6716 SCRN1 0 genome.wustl.edu 37 7 29983686 29983686 + Missense_Mutation SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 7 29983686 29983686 G A SNP SCRN1 ENST00000434476 human ensembl 74_37 -1 known missense c.511 p.H171Y 1.000 pfam_Peptidase_C69 pfam_Peptidase_C69 - no_errors SCRN1 HGNC ENSG00000136193 116 0 0 162 16 8.98876 HECW1 0 genome.wustl.edu 37 7 43436443 43436443 + Missense_Mutation SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 7 43436443 43436443 G A SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known missense c.586 p.V196I 0.002 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 97 0 0 102 39 27.6596 RIMS2 0 genome.wustl.edu 37 8 104922645 104922645 + Missense_Mutation SNP G G T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 8 104922645 104922645 G T SNP RIMS2 ENST00000262231 human ensembl 74_37 +1 known missense c.1145 p.G382V 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors RIMS2 HGNC ENSG00000176406 115 0 0 170 29 14.5729 DOCK5 0 genome.wustl.edu 37 8 25266394 25266394 + Missense_Mutation SNP C C T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 8 25266394 25266394 C T SNP DOCK5 ENST00000276440 human ensembl 74_37 +1 known missense c.5342 p.S1781L 0.073 NULL pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 79 0 0 102 10 8.92857 ADAM2 0 genome.wustl.edu 37 8 39695695 39695695 + Missense_Mutation SNP C C T TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 8 39695695 39695695 C T SNP ADAM2 ENST00000265708 human ensembl 74_37 -1 known missense c.10 p.V4I 0.000 NULL 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_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM2 HGNC ENSG00000104755 86 0 0 83 11 11.7021 XKR9 0 genome.wustl.edu 37 8 71593358 71593358 + Missense_Mutation SNP T T C TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 8 71593358 71593358 T C SNP XKR9 ENST00000408926 human ensembl 74_37 +1 known missense c.65 p.L22S 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR9 HGNC ENSG00000221947 115 0 0 219 37 14.4531 PDP1 0 genome.wustl.edu 37 8 94934649 94934649 + Missense_Mutation SNP C C G TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 8 94934649 94934649 C G SNP PDP1 ENST00000396200 human ensembl 74_37 +1 known missense c.437 p.A146G 1.000 superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PDP1 HGNC ENSG00000164951 173 0 0 181 22 10.8374 TEK 0 genome.wustl.edu 37 9 27185587 27185587 + Silent SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 9 27185587 27185587 G A SNP TEK ENST00000380036 human ensembl 74_37 +1 known silent c.1287 p.V429 0.999 pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 82 0 0 116 20 14.7059 FBXO10 0 genome.wustl.edu 37 9 37541712 37541712 + Missense_Mutation SNP C C A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 9 37541712 37541712 C A SNP FBXO10 ENST00000432825 human ensembl 74_37 -1 known missense c.54 p.L18F 1.000 pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,pfscan_F-box_dom,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO10 HGNC ENSG00000147912 68 0 0 86 14 14 ARMCX2 0 genome.wustl.edu 37 X 100912607 100912607 + RNA SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 X 100912607 100912607 G A SNP ARMCX2 ENST00000467416 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ARMCX2 HGNC ENSG00000184867 94 0 0 132 15 10.2041 BEX4 0 genome.wustl.edu 37 X 102471359 102471359 + Missense_Mutation SNP A A G TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 X 102471359 102471359 A G SNP BEX4 ENST00000372691 human ensembl 74_37 +1 known missense c.278 p.K93R 0.022 pfam_TF_A-like/BEX-like,pirsf_BEX pfam_TF_A-like/BEX-like,pirsf_BEX - no_errors BEX4 HGNC ENSG00000102409 178 0 0 198 32 13.913 GPR112 0 genome.wustl.edu 37 X 135445660 135445660 + Silent SNP A A G TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 X 135445660 135445660 A G SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known silent c.7302 p.K2434 0.998 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 81 0 0 125 22 14.966 ABCD1 0 genome.wustl.edu 37 X 153001826 153001826 + Silent SNP C C A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 X 153001826 153001826 C A SNP ABCD1 ENST00000218104 human ensembl 74_37 +1 known silent c.1252 p.R418 1.000 superfamily_ABC1_TM_dom,tigrfam_FA_transporter pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_FA_transporter - no_errors ABCD1 HGNC ENSG00000101986 115 0 0 92 19 17.1171 HCFC1 0 genome.wustl.edu 37 X 153219978 153219978 + Missense_Mutation SNP T T C TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 X 153219978 153219978 T C SNP HCFC1 ENST00000310441 human ensembl 74_37 -1 known missense c.3872 p.N1291S 1.000 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 253 0 0 196 46 19.0083 REPS2 0 genome.wustl.edu 37 X 17073008 17073008 + Missense_Mutation SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 X 17073008 17073008 G A SNP REPS2 ENST00000357277 human ensembl 74_37 +1 known missense c.1049 p.R350Q 1.000 smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors REPS2 HGNC ENSG00000169891 95 0 0 70 26 27.0833 TBC1D25 0 genome.wustl.edu 37 X 48403295 48403295 + Missense_Mutation SNP G G A TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 X 48403295 48403295 G A SNP TBC1D25 ENST00000376771 human ensembl 74_37 +1 known missense c.272 p.R91Q 0.569 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D25 HGNC ENSG00000068354 106 0 0 102 7 6.42202 PHTF1 0 genome.wustl.edu 37 1 114248779 114248780 + In_Frame_Ins INS - - TTGACC TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 1 114248779 114248780 - TTGACC INS PHTF1 ENST00000369604 human ensembl 74_37 -1 known in_frame_ins c.1404_1403 p.468in_frame_insKV 0.988:0.998 NULL pfam_TF_homeodomain_male - no_errors PHTF1 HGNC ENSG00000116793 89 0 0 117 9 7.14286 IKZF5 0 genome.wustl.edu 37 10 124753769 124753769 + Frame_Shift_Del DEL A A - TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 10 124753769 124753769 A - DEL IKZF5 ENST00000368886 human ensembl 74_37 -1 known frame_shift_del c.787 p.S263fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF5 HGNC ENSG00000095574 152 0 0 177 21 10.6061 IRF2 0 genome.wustl.edu 37 4 185310092 185310092 + Frame_Shift_Del DEL G G - TCGA-BR-8285-01A-11D-2340-08 TCGA-BR-8285-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29638769-0fdb-4267-a661-269681bb2e2e 3efce1fa-de52-4f33-baa4-d93fbe974918 4 185310092 185310092 G - DEL IRF2 ENST00000393593 human ensembl 74_37 -1 known frame_shift_del c.870 p.T291fs 1.000 pirsf_Interferon_reg_fac-1/2 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF2 HGNC ENSG00000168310 187 0 0 195 39 16.6667