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 SORT1 0 genome.wustl.edu 37 1 109870142 109870142 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 1 109870142 109870142 C T SNP SORT1 ENST00000256637 human ensembl 74_37 -1 known missense c.1453 p.V485I 0.980 smart_VPS10 pfam_BNR_rpt,smart_VPS10 - no_errors SORT1 HGNC ENSG00000134243 66 0 0 50 9 15.2542 HNRNPCL1 0 genome.wustl.edu 37 1 12907938 12907938 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 1 12907938 12907938 C T SNP HNRNPCL1 ENST00000317869 human ensembl 74_37 -1 known missense c.205 p.G69R 1.000 pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors HNRNPCL1 HGNC ENSG00000179172 256 0 0 175 29 14.2157 ABL2 0 genome.wustl.edu 37 1 179077710 179077710 + Nonsense_Mutation SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 1 179077710 179077710 G A SNP ABL2 ENST00000502732 human ensembl 74_37 -1 known nonsense c.2692 p.R898* 0.941 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac-type,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL2 HGNC ENSG00000143322 84 0 0 56 10 15.1515 LHX4 0 genome.wustl.edu 37 1 180241097 180241097 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 1 180241097 180241097 C T SNP LHX4 ENST00000263726 human ensembl 74_37 +1 known missense c.734 p.S245F 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 LHX4 HGNC ENSG00000121454 71 0 0 51 22 30.137 RGL1 0 genome.wustl.edu 37 1 183891428 183891428 + Missense_Mutation SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 1 183891428 183891428 G A SNP RGL1 ENST00000304685 human ensembl 74_37 +1 known missense c.2182 p.A728T 0.968 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc 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 RGL1 HGNC ENSG00000143344 24 0 0 42 10 19.2308 PROX1 0 genome.wustl.edu 37 1 214171517 214171517 + Missense_Mutation SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 1 214171517 214171517 G A SNP PROX1 ENST00000261454 human ensembl 74_37 +1 known missense c.1639 p.A547T 1.000 pfam_Homeo_prospero_dom pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 163 0 0 105 36 25.5319 USH2A 0 genome.wustl.edu 37 1 215802319 215802319 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 1 215802319 215802319 C T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.15428 p.R5143Q 0.011 NULL pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 203 0 0 121 48 28.4024 OBSCN 0 genome.wustl.edu 37 1 228404826 228404826 + Missense_Mutation SNP G G C TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 1 228404826 228404826 G C SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.2490 p.W830C 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 112 0 0 74 22 22.9167 OR2T6 0 genome.wustl.edu 37 1 248551682 248551682 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 1 248551682 248551682 C T SNP OR2T6 ENST00000355728 human ensembl 74_37 +1 known missense c.773 p.T258M 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2T6 HGNC ENSG00000198104 130 1 0.763359 77 23 23 KIAA0754 0 genome.wustl.edu 37 1 39878876 39878876 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 1 39878876 39878876 C T SNP KIAA0754 ENST00000530275 human ensembl 74_37 +1 known missense c.2531 p.T844I 0.010 NULL NULL - no_errors KIAA0754 HGNC ENSG00000255103 27 0 0 32 3 8.57143 MSH4 0 genome.wustl.edu 37 1 76282161 76282161 + Nonsense_Mutation SNP G G T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 1 76282161 76282161 G T SNP MSH4 ENST00000263187 human ensembl 74_37 +1 known nonsense c.919 p.E307* 1.000 pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mmatch_repair_MutS_con_dom pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH4 HGNC ENSG00000057468 51 0 0 28 10 26.3158 PDCD11 0 genome.wustl.edu 37 10 105202030 105202030 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 10 105202030 105202030 C T SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known missense c.4768 p.R1590C 0.996 NULL pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 178 1 0.558659 84 68 44.7368 NET1 0 genome.wustl.edu 37 10 5498109 5498109 + Silent SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 10 5498109 5498109 C T SNP NET1 ENST00000355029 human ensembl 74_37 +1 known silent c.1257 p.N419 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors NET1 HGNC ENSG00000173848 131 0 0 79 19 19.3878 PTEN 0 genome.wustl.edu 37 10 89692905 89692905 + Missense_Mutation SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 10 89692905 89692905 G A SNP PTEN ENST00000371953 human ensembl 74_37 +1 known missense c.389 p.R130Q 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 133 0 0 76 28 26.9231 ANO3 0 genome.wustl.edu 37 11 26619976 26619976 + Silent SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 11 26619976 26619976 C T SNP ANO3 ENST00000256737 human ensembl 74_37 +1 known silent c.1512 p.I504 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO3 HGNC ENSG00000134343 105 0 0 64 29 31.1828 CRY2 0 genome.wustl.edu 37 11 45892066 45892066 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 11 45892066 45892066 C T SNP CRY2 ENST00000443527 human ensembl 74_37 +1 known missense c.1595 p.S532L 1.000 NULL pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N - no_errors CRY2 HGNC ENSG00000121671 66 0 0 40 6 13.0435 DENND5A 0 genome.wustl.edu 37 11 9167339 9167339 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 11 9167339 9167339 C T SNP DENND5A ENST00000328194 human ensembl 74_37 -1 known missense c.2881 p.V961I 0.997 superfamily_Lipase_LipOase,pfscan_PLAT/LH2_dom pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run - no_errors DENND5A HGNC ENSG00000184014 401 0 0 302 67 18.1572 TAS2R7 0 genome.wustl.edu 37 12 10954759 10954759 + Silent SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 12 10954759 10954759 G A SNP TAS2R7 ENST00000240687 human ensembl 74_37 -1 known silent c.411 p.C137 0.000 pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R7 HGNC ENSG00000121377 46 0 0 19 7 26.9231 SLCO1B3 0 genome.wustl.edu 37 12 21068976 21068976 + Missense_Mutation SNP C C A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 12 21068976 21068976 C A SNP SLCO1B3 ENST00000261196 human ensembl 74_37 +1 known missense c.1904 p.P635Q 0.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 47 0 0 33 10 23.2558 TIMELESS 0 genome.wustl.edu 37 12 56824049 56824049 + Missense_Mutation SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 12 56824049 56824049 G A SNP TIMELESS ENST00000553532 human ensembl 74_37 -1 known missense c.926 p.S309L 0.996 NULL pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 73 0 0 60 21 25.9259 RASSF9 0 genome.wustl.edu 37 12 86199380 86199380 + Silent SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 12 86199380 86199380 G A SNP RASSF9 ENST00000361228 human ensembl 74_37 -1 known silent c.408 p.N136 0.721 NULL smart_Ras-assoc,pfscan_Ras-assoc - no_errors RASSF9 HGNC ENSG00000198774 314 0 0 231 81 25.9615 UPF3A 0 genome.wustl.edu 37 13 115047559 115047559 + Silent SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 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 9 0 0 11 3 21.4286 N4BP2L2 0 genome.wustl.edu 37 13 33109952 33109952 + Missense_Mutation SNP T T A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 13 33109952 33109952 T A SNP N4BP2L2 ENST00000267068 human ensembl 74_37 -1 known missense c.1213 p.I405F 0.997 pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase - no_errors N4BP2L2 HGNC ENSG00000244754 101 0 0 68 6 8.10811 THBS1 0 genome.wustl.edu 37 15 39877765 39877765 + Splice_Site SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 15 39877765 39877765 G A SNP THBS1 ENST00000260356 human ensembl 74_37 +1 known splice_site c.1120+1 e6+1 1.000 - - - no_errors THBS1 HGNC ENSG00000137801 54 0 0 29 15 34.0909 AP3B2 0 genome.wustl.edu 37 15 83346895 83346895 + Missense_Mutation SNP T T C TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 15 83346895 83346895 T C SNP AP3B2 ENST00000261722 human ensembl 74_37 -1 known missense c.1207 p.N403D 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta - no_errors AP3B2 HGNC ENSG00000103723 51 0 0 35 8 18.6047 PLCG2 0 genome.wustl.edu 37 16 81916924 81916924 + Missense_Mutation SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 16 81916924 81916924 G A SNP PLCG2 ENST00000359376 human ensembl 74_37 +1 known missense c.743 p.R248K 1.000 pfam_PLipase_C_EF-hand-like,pirsf_PLC-gamma pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC ENSG00000197943 69 0 0 37 24 39.3443 MYH2 0 genome.wustl.edu 37 17 10424715 10424715 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 17 10424715 10424715 C T SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.5708 p.R1903H 1.000 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 193 0 0 128 46 26.4368 SLC46A1 0 genome.wustl.edu 37 17 26731940 26731940 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 17 26731940 26731940 C T SNP SLC46A1 ENST00000440501 human ensembl 74_37 -1 known missense c.775 p.A259T 0.003 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC46A1 HGNC ENSG00000076351 147 0 0 141 35 19.8864 GRB2 0 genome.wustl.edu 37 17 73317845 73317845 + Missense_Mutation SNP C C A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 17 73317845 73317845 C A SNP GRB2 ENST00000316804 human ensembl 74_37 -1 known missense c.363 p.W121C 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH3_domain,pfam_SH3_2,pfam_SH2,pfam_SH3-like_bac-type,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain,prints_p67phox - no_errors GRB2 HGNC ENSG00000177885 65 0 0 69 4 5.47945 NETO1 0 genome.wustl.edu 37 18 70532826 70532826 + Missense_Mutation SNP C C G TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 18 70532826 70532826 C G SNP NETO1 ENST00000299430 human ensembl 74_37 -1 known missense c.7 p.A3P 0.000 NULL pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt - no_errors NETO1 HGNC ENSG00000166342 33 0 0 19 5 20.8333 ZNF569 0 genome.wustl.edu 37 19 37904164 37904164 + Missense_Mutation SNP A A G TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 19 37904164 37904164 A G SNP ZNF569 ENST00000316950 human ensembl 74_37 -1 known missense c.1396 p.Y466H 0.992 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 ZNF569 HGNC ENSG00000196437 61 0 0 49 15 23.4375 PSG11 0 genome.wustl.edu 37 19 43519445 43519445 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 19 43519445 43519445 C T SNP PSG11 ENST00000320078 human ensembl 74_37 -1 known missense c.787 p.A263T 0.001 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG11 HGNC ENSG00000243130 256 0 0 218 21 8.78661 ZNF235 0 genome.wustl.edu 37 19 44791904 44791904 + Nonsense_Mutation SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 19 44791904 44791904 G A SNP ZNF235 ENST00000291182 human ensembl 74_37 -1 known nonsense c.1684 p.Q562* 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF235 HGNC ENSG00000159917 108 0 0 77 16 17.2043 LRP1B 0 genome.wustl.edu 37 2 141283858 141283858 + Silent SNP T T C TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 2 141283858 141283858 T C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.7824 p.A2608 0.998 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 90 0 0 49 18 26.8657 CPS1 0 genome.wustl.edu 37 2 211512631 211512631 + Missense_Mutation SNP C C A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 2 211512631 211512631 C A SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known missense c.3204 p.N1068K 1.000 pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 105 0 0 77 19 19.7917 SLC23A3 0 genome.wustl.edu 37 2 220032699 220032699 + Missense_Mutation SNP T T A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 2 220032699 220032699 T A SNP SLC23A3 ENST00000455516 human ensembl 74_37 -1 known missense c.890 p.E297V 0.311 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A3 HGNC ENSG00000213901 97 0 0 71 23 24.4681 KIF1A 0 genome.wustl.edu 37 2 241710462 241710462 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 2 241710462 241710462 C T SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known missense c.1267 p.A423T 0.991 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 117 0 0 67 22 24.7191 CCDC88A 0 genome.wustl.edu 37 2 55523480 55523480 + Missense_Mutation SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 2 55523480 55523480 G A SNP CCDC88A ENST00000436346 human ensembl 74_37 -1 known missense c.5005 p.H1669Y 0.964 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 99 0 0 58 16 21.6216 TIA1 0 genome.wustl.edu 37 2 70443986 70443986 + Nonsense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 2 70443986 70443986 C T SNP TIA1 ENST00000416149 human ensembl 74_37 -1 putative nonsense c.615 p.W205* 0.998 NULL pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors TIA1 HGNC ENSG00000116001 319 0 0 234 67 22.2591 TSHZ2 0 genome.wustl.edu 37 20 51872642 51872642 + Missense_Mutation SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 20 51872642 51872642 G A SNP TSHZ2 ENST00000371497 human ensembl 74_37 +1 known missense c.2645 p.R882H 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 90 0 0 88 21 19.2661 SCRT2 0 genome.wustl.edu 37 20 644940 644940 + Missense_Mutation SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 20 644940 644940 G A SNP SCRT2 ENST00000246104 human ensembl 74_37 -1 known missense c.299 p.A100V 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SCRT2 HGNC ENSG00000215397 15 0 0 17 7 29.1667 ENSG00000161103 0 genome.wustl.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 22 18844888 18844888 A G SNP ENSG00000161103 ENST00000412938 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AC008132.13 Clone_based_vega_gene ENSG00000161103 111 0 0 88 7 7.36842 PRAME 0 genome.wustl.edu 37 22 22892267 22892267 + Silent SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 22 22892267 22892267 C T SNP PRAME ENST00000398741 human ensembl 74_37 -1 known silent c.834 p.P278 0.000 NULL NULL - no_errors PRAME HGNC ENSG00000185686 142 0 0 98 28 22.2222 ATP2B2 0 genome.wustl.edu 37 3 10401792 10401792 + Missense_Mutation SNP C C A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 3 10401792 10401792 C A SNP ATP2B2 ENST00000352432 human ensembl 74_37 -1 known missense c.1675 p.G559C 1.000 superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_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_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B2 HGNC ENSG00000157087 75 0 0 48 15 23.8095 EPHB1 0 genome.wustl.edu 37 3 134851683 134851683 + Silent SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 3 134851683 134851683 C T SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known silent c.1089 p.C363 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 54 0 0 38 13 25.4902 CNTN6 0 genome.wustl.edu 37 3 1424860 1424860 + Missense_Mutation SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 3 1424860 1424860 G A SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known missense c.2401 p.E801K 1.000 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 119 0 0 87 20 18.6916 SLITRK3 0 genome.wustl.edu 37 3 164905876 164905876 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 3 164905876 164905876 C T SNP SLITRK3 ENST00000241274 human ensembl 74_37 -1 known missense c.2743 p.V915M 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC ENSG00000121871 155 0 0 116 9 7.2 PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 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 74 0 0 50 41 45.0549 KIF9-AS1 0 genome.wustl.edu 37 3 47287569 47287569 + RNA SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 3 47287569 47287569 C T SNP KIF9-AS1 ENST00000429315 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors KIF9-AS1 HGNC ENSG00000227398 11 0 0 8 6 42.8571 DKK2 0 genome.wustl.edu 37 4 107847019 107847019 + Missense_Mutation SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 4 107847019 107847019 G A SNP DKK2 ENST00000285311 human ensembl 74_37 -1 novel missense c.310 p.R104W 1.000 pfam_Dickkopf_N,superfamily_Zn2-C6_fun-type_DNA-bd pfam_Dickkopf_N,superfamily_Zn2-C6_fun-type_DNA-bd - no_errors DKK2 HGNC ENSG00000155011 168 0 0 114 44 27.8481 INTU 0 genome.wustl.edu 37 4 128628065 128628065 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 4 128628065 128628065 C T SNP INTU ENST00000335251 human ensembl 74_37 +1 known missense c.2212 p.R738W 0.019 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors INTU HGNC ENSG00000164066 288 0 0 186 60 24.3902 FRAS1 0 genome.wustl.edu 37 4 79229315 79229315 + Nonsense_Mutation SNP G G T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 4 79229315 79229315 G T SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known nonsense c.1630 p.E544* 0.000 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 34 0 0 42 5 10.6383 PCDHA12 0 genome.wustl.edu 37 5 140256419 140256419 + Silent SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 5 140256419 140256419 G A SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known silent c.1362 p.A454 0.000 superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 165 0 0 144 34 19.1011 PCDHB7 0 genome.wustl.edu 37 5 140553577 140553577 + Silent SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 5 140553577 140553577 C T SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known silent c.1161 p.D387 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 58 0 0 57 16 21.9178 LARP1 0 genome.wustl.edu 37 5 154172296 154172296 + Nonsense_Mutation SNP G G T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 5 154172296 154172296 G T SNP LARP1 ENST00000336314 human ensembl 74_37 +1 known nonsense c.448 p.E150* 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC ENSG00000155506 162 0 0 120 13 9.77444 FGFR4 0 genome.wustl.edu 37 5 176517537 176517537 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 5 176517537 176517537 C T SNP FGFR4 ENST00000292408 human ensembl 74_37 +1 known missense c.238 p.R80W 1.000 pirsf_FGF_rcpt_fam,smart_Ig_sub,smart_Ig_sub2 pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR4 HGNC ENSG00000160867 86 0 0 85 16 15.8416 PRDM9 0 genome.wustl.edu 37 5 23521145 23521145 + Missense_Mutation SNP C C A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 5 23521145 23521145 C A SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known missense c.365 p.A122E 0.000 NULL pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 66 0 0 37 13 26 MAP1B 0 genome.wustl.edu 37 5 71495207 71495207 + Nonsense_Mutation SNP G G T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 5 71495207 71495207 G T SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known nonsense c.6025 p.E2009* 1.000 pfam_MAP1B_neuraxin pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 295 0 0 208 60 22.3881 RNF217 0 genome.wustl.edu 37 6 125366470 125366470 + Nonsense_Mutation SNP C C G TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 6 125366470 125366470 C G SNP RNF217 ENST00000560949 human ensembl 74_37 +1 known nonsense c.291 p.Y97* 1.000 smart_Znf_C6HC pfam_Znf_C6HC,smart_Znf_C6HC - no_errors RNF217 HGNC ENSG00000146373 74 0 0 50 3 5.66038 SLC22A1 0 genome.wustl.edu 37 6 160557340 160557340 + Missense_Mutation SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 6 160557340 160557340 G A SNP SLC22A1 ENST00000366963 human ensembl 74_37 +1 known missense c.928 p.G310R 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A1 HGNC ENSG00000175003 122 0 0 77 20 20.6186 HSPA1L 0 genome.wustl.edu 37 6 31779555 31779555 + Silent SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 6 31779555 31779555 G A SNP HSPA1L ENST00000375654 human ensembl 74_37 -1 known silent c.195 p.P65 1.000 pfam_Hsp_70_fam,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1L HGNC ENSG00000204390 174 0 0 127 25 16.4474 KCNK16 0 genome.wustl.edu 37 6 39285601 39285601 + Silent SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 6 39285601 39285601 G A SNP KCNK16 ENST00000425054 human ensembl 74_37 -1 known silent c.456 p.A152 0.004 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl - no_errors KCNK16 HGNC ENSG00000095981 23 0 0 30 5 14.2857 LAMB4 0 genome.wustl.edu 37 7 107677848 107677848 + Missense_Mutation SNP T T C TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 7 107677848 107677848 T C SNP LAMB4 ENST00000205386 human ensembl 74_37 -1 known missense c.4664 p.K1555R 0.000 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 217 0 0 164 52 24.0741 FLNC 0 genome.wustl.edu 37 7 128494220 128494220 + Missense_Mutation SNP T T C TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 7 128494220 128494220 T C SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.6677 p.L2226P 1.000 smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 33 0 0 28 10 26.3158 CARD11 0 genome.wustl.edu 37 7 2954991 2954991 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 7 2954991 2954991 C T SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known missense c.2719 p.E907K 0.997 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 71 0 0 47 17 26.5625 HECW1 0 genome.wustl.edu 37 7 43477748 43477748 + RNA SNP A A T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 7 43477748 43477748 A T SNP HECW1 ENST00000471043 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors HECW1 HGNC ENSG00000002746 89 0 0 64 17 20.9877 SEPT14 0 genome.wustl.edu 37 7 55914311 55914311 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 7 55914311 55914311 C T SNP SEPT14 ENST00000388975 human ensembl 74_37 -1 known missense c.74 p.R25H 0.061 NULL pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT14 HGNC ENSG00000154997 92 0 0 65 24 26.9663 DAGLB 0 genome.wustl.edu 37 7 6449475 6449475 + Missense_Mutation SNP A A G TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 7 6449475 6449475 A G SNP DAGLB ENST00000297056 human ensembl 74_37 -1 known missense c.2012 p.V671A 0.000 NULL pfam_Lipase_3 - no_errors DAGLB HGNC ENSG00000164535 57 0 0 29 11 27.5 RIMS2 0 genome.wustl.edu 37 8 105105703 105105703 + Missense_Mutation SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 8 105105703 105105703 G A SNP RIMS2 ENST00000436393 human ensembl 74_37 +1 novel missense c.2726 p.R909Q 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 194 0 0 240 44 15.493 CYP11B1 0 genome.wustl.edu 37 8 143959174 143959174 + Missense_Mutation SNP T T C TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 8 143959174 143959174 T C SNP CYP11B1 ENST00000377675 human ensembl 74_37 -1 novel missense c.607 p.R203G 0.000 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC ENSG00000160882 56 0 0 84 8 8.69565 NAT2 0 genome.wustl.edu 37 8 18258091 18258091 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 8 18258091 18258091 C T SNP NAT2 ENST00000286479 human ensembl 74_37 +1 known missense c.578 p.T193M 0.998 pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase - no_errors NAT2 HGNC ENSG00000156006 132 0 0 115 61 34.6591 ENTPD4 0 genome.wustl.edu 37 8 23291882 23291882 + Missense_Mutation SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 8 23291882 23291882 C T SNP ENTPD4 ENST00000358689 human ensembl 74_37 -1 known missense c.1570 p.V524I 1.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD4 HGNC ENSG00000197217 140 0 0 125 18 12.5874 TRIM35 0 genome.wustl.edu 37 8 27156046 27156046 + Missense_Mutation SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 8 27156046 27156046 G A SNP TRIM35 ENST00000305364 human ensembl 74_37 -1 known missense c.466 p.R156W 0.952 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM35 HGNC ENSG00000104228 124 0 0 125 68 35.2332 SNTG1 0 genome.wustl.edu 37 8 51664620 51664620 + Missense_Mutation SNP C C A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 8 51664620 51664620 C A SNP SNTG1 ENST00000518864 human ensembl 74_37 +1 known missense c.1344 p.S448R 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTG1 HGNC ENSG00000147481 176 0 0 156 46 22.7723 MUSK 0 genome.wustl.edu 37 9 113563100 113563100 + Silent SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 9 113563100 113563100 C T SNP MUSK ENST00000374448 human ensembl 74_37 +1 known silent c.2442 p.Y814 0.990 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_Ig_I-set,pfam_Prot_kinase_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MUSK HGNC ENSG00000030304 73 0 0 52 14 21.2121 WWC3 0 genome.wustl.edu 37 X 10058913 10058913 + Silent SNP C C T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 X 10058913 10058913 C T SNP WWC3 ENST00000380861 human ensembl 74_37 +1 known silent c.480 p.G160 1.000 NULL superfamily_C2_dom - no_errors WWC3 HGNC ENSG00000047644 52 0 0 49 4 7.54717 SLITRK2 0 genome.wustl.edu 37 X 144905746 144905746 + Silent SNP G G T TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 X 144905746 144905746 G T SNP SLITRK2 ENST00000370490 human ensembl 74_37 +1 known silent c.1803 p.S601 0.003 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC ENSG00000185985 55 0 0 57 3 5 BCOR 0 genome.wustl.edu 37 X 39923059 39923059 + Nonsense_Mutation SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 X 39923059 39923059 G A SNP BCOR ENST00000378444 human ensembl 74_37 -1 known nonsense c.3649 p.R1217* 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 60 0 0 32 39 54.9296 MAGED2 0 genome.wustl.edu 37 X 54836552 54836552 + Missense_Mutation SNP C C G TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 X 54836552 54836552 C G SNP MAGED2 ENST00000218439 human ensembl 74_37 +1 known missense c.443 p.A148G 0.153 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGED2 HGNC ENSG00000102316 20 0 0 5 5 50 NLGN4X 0 genome.wustl.edu 37 X 5821174 5821174 + Silent SNP G G A TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 X 5821174 5821174 G A SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known silent c.1605 p.N535 0.757 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 58 0 0 22 22 50 ARID1A 0 genome.wustl.edu 37 1 27101593 27101593 + Frame_Shift_Del DEL A A - TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 1 27101593 27101593 A - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.4875 p.I1625fs 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 137 0 0 76 45 37.1901 ENSG00000266535 0 genome.wustl.edu 37 17 31439098 31439099 + RNA DEL AG AG - TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 17 31439098 31439099 AG - DEL ENSG00000266535 ENST00000584688 human ensembl 74_37 +1 known rna NULL NULL 0.563:0.970 - - - no_errors RP11-40A13.1 Clone_based_vega_gene ENSG00000266535 26 0 0 18 3 14.2857 AKAP12 0 genome.wustl.edu 37 6 151674836 151674837 + Frame_Shift_Del DEL AG AG - TCGA-BR-6707-01A-11D-1882-08 TCGA-BR-6707-10A-01D-1882-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f40887e2-d046-43db-b163-23289154966d f115f32a-fbd4-4f02-afc8-1f7f0d5a3842 6 151674836 151674837 AG - DEL AKAP12 ENST00000253332 human ensembl 74_37 +1 known frame_shift_del c.5310_5311 p.E1773fs 0.001:0.215 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 22 0 0 15 4 21.0526