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 PDPN 0 genome.wustl.edu 37 1 13940872 13940872 + Missense_Mutation SNP G G A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 1 13940872 13940872 G A SNP PDPN ENST00000294489 human ensembl 74_37 +1 known missense c.676 p.V226I 0.000 pfam_Podoplanin pfam_Podoplanin - no_errors PDPN HGNC ENSG00000162493 92 0 0 50 14 21.875 USH2A 0 genome.wustl.edu 37 1 216348749 216348749 + Missense_Mutation SNP T T A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 1 216348749 216348749 T A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.4472 p.E1491V 0.029 superfamily_Fibronectin_type3 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 42 0 0 31 5 13.8889 BEST4 0 genome.wustl.edu 37 1 45250412 45250412 + Missense_Mutation SNP G G A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 1 45250412 45250412 G A SNP BEST4 ENST00000372207 human ensembl 74_37 -1 known missense c.1037 p.P346L 0.801 NULL pfam_Bestrophin/UPF0187 - no_errors BEST4 HGNC ENSG00000142959 59 0 0 58 8 12.1212 FAS 0 genome.wustl.edu 37 10 90774152 90774152 + Missense_Mutation SNP T T A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 10 90774152 90774152 T A SNP FAS ENST00000355740 human ensembl 74_37 +1 known missense c.953 p.I318N 0.000 superfamily_DEATH-like_dom pfam_Death_domain,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_Fas_rcpt - no_errors FAS HGNC ENSG00000026103 78 0 0 70 15 17.6471 SLC5A8 0 genome.wustl.edu 37 12 101603454 101603454 + Missense_Mutation SNP G G A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 12 101603454 101603454 G A SNP SLC5A8 ENST00000536262 human ensembl 74_37 -1 known missense c.173 p.A58V 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A8 HGNC ENSG00000256870 35 0 0 32 6 15.7895 CCDC60 0 genome.wustl.edu 37 12 119954427 119954427 + Splice_Site SNP G G T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 12 119954427 119954427 G T SNP CCDC60 ENST00000327554 human ensembl 74_37 +1 known splice_site c.884-1 e8-1 1.000 - - - no_errors CCDC60 HGNC ENSG00000183273 48 0 0 33 8 19.5122 TMEM132B 0 genome.wustl.edu 37 12 126137113 126137113 + Nonsense_Mutation SNP C C T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 12 126137113 126137113 C T SNP TMEM132B ENST00000299308 human ensembl 74_37 +1 known nonsense c.2026 p.R676* 0.845 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 87 0 0 58 11 15.942 LRRK2 0 genome.wustl.edu 37 12 40740652 40740652 + Silent SNP T T G TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 12 40740652 40740652 T G SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known silent c.6207 p.T2069 0.981 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 51 0 0 35 6 14.6341 NEDD1 0 genome.wustl.edu 37 12 97345236 97345236 + Missense_Mutation SNP A A T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 12 97345236 97345236 A T SNP NEDD1 ENST00000557644 human ensembl 74_37 +1 known missense c.1859 p.N620I 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NEDD1 HGNC ENSG00000139350 56 0 0 56 11 16.4179 ANKRD10 0 genome.wustl.edu 37 13 111532325 111532325 + Missense_Mutation SNP C C G TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 13 111532325 111532325 C G SNP ANKRD10 ENST00000267339 human ensembl 74_37 -1 known missense c.922 p.G308R 0.962 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD10 HGNC ENSG00000088448 68 0 0 64 12 15.7895 OR4K17 0 genome.wustl.edu 37 14 20586246 20586246 + Silent SNP G G A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 14 20586246 20586246 G A SNP OR4K17 ENST00000315543 human ensembl 74_37 +1 known silent c.681 p.Q227 0.017 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K17 HGNC ENSG00000176230 129 0 0 129 31 19.375 NDRG2 0 genome.wustl.edu 37 14 21490644 21490644 + Nonsense_Mutation SNP C C A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 14 21490644 21490644 C A SNP NDRG2 ENST00000298687 human ensembl 74_37 -1 known nonsense c.130 p.E44* 1.000 pfam_Ndr pfam_Ndr - no_errors NDRG2 HGNC ENSG00000165795 39 0 0 31 2 6.06061 BRMS1L 0 genome.wustl.edu 37 14 36302313 36302313 + Splice_Site SNP T T C TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 14 36302313 36302313 T C SNP BRMS1L ENST00000216807 human ensembl 74_37 +1 known splice_site c.361+2 e3+2 1.000 - - - no_errors BRMS1L HGNC ENSG00000100916 33 0 0 24 4 14.2857 SNHG14 0 genome.wustl.edu 37 15 25477429 25477429 + RNA SNP G G A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 15 25477429 25477429 G A SNP SNHG14 ENST00000453082 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 78 0 0 50 7 12.2807 OCA2 0 genome.wustl.edu 37 15 28096604 28096604 + Missense_Mutation SNP G G C TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 15 28096604 28096604 G C SNP OCA2 ENST00000354638 human ensembl 74_37 -1 known missense c.2262 p.N754K 1.000 pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 9 0 0 10 3 23.0769 DUOX2 0 genome.wustl.edu 37 15 45388106 45388106 + Missense_Mutation SNP G G A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 15 45388106 45388106 G A SNP DUOX2 ENST00000389039 human ensembl 74_37 -1 known missense c.4000 p.R1334W 1.000 pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 37 0 0 50 7 12.2807 CDH8 0 genome.wustl.edu 37 16 61687977 61687977 + Silent SNP C C T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 16 61687977 61687977 C T SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known silent c.1935 p.R645 0.997 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 71 0 0 57 10 14.9254 CDH1 0 genome.wustl.edu 37 16 68842728 68842728 + Missense_Mutation SNP A A G TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 16 68842728 68842728 A G SNP CDH1 ENST00000261769 human ensembl 74_37 +1 known missense c.664 p.R222G 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 54 0 0 36 10 21.7391 CDH1 0 genome.wustl.edu 37 16 68856129 68856129 + Splice_Site SNP G G T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 16 68856129 68856129 G T SNP CDH1 ENST00000261769 human ensembl 74_37 +1 known splice_site c.1936+1 e12+1 0.996 - - - no_errors CDH1 HGNC ENSG00000039068 62 0 0 45 11 19.6429 ADAMTS18 0 genome.wustl.edu 37 16 77393318 77393318 + Missense_Mutation SNP A A C TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 16 77393318 77393318 A C SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.1219 p.F407V 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 34 0 0 23 6 20.6897 SPPL2C 0 genome.wustl.edu 37 17 43923421 43923421 + Silent SNP G G T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 17 43923421 43923421 G T SNP SPPL2C ENST00000329196 human ensembl 74_37 +1 known silent c.1149 p.L383 1.000 pfam_Peptidase_A22B_SPP,smart_Preselin/SPP pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Preselin/SPP - no_errors SPPL2C HGNC ENSG00000185294 41 0 0 40 11 21.5686 TRIM25 0 genome.wustl.edu 37 17 54981760 54981760 + Silent SNP C C T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 17 54981760 54981760 C T SNP TRIM25 ENST00000316881 human ensembl 74_37 -1 known silent c.783 p.R261 0.024 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM25 HGNC ENSG00000121060 126 0 0 116 24 17.1429 KCNH6 0 genome.wustl.edu 37 17 61611421 61611421 + Missense_Mutation SNP G G A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 17 61611421 61611421 G A SNP KCNH6 ENST00000583023 human ensembl 74_37 +1 known missense c.850 p.D284N 0.999 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom - no_errors KCNH6 HGNC ENSG00000173826 105 0 0 110 20 15.3846 SMAD4 0 genome.wustl.edu 37 18 48591918 48591918 + Missense_Mutation SNP C C T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 18 48591918 48591918 C T SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known missense c.1081 p.R361C 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 65 0 0 41 11 21.1538 PTPRM 0 genome.wustl.edu 37 18 8394585 8394585 + Missense_Mutation SNP C C A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 18 8394585 8394585 C A SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.4323 p.N1441K 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 47 0 0 35 5 12.5 MED26 0 genome.wustl.edu 37 19 16688410 16688410 + Silent SNP C C T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 19 16688410 16688410 C T SNP MED26 ENST00000263390 human ensembl 74_37 -1 known silent c.231 p.L77 0.998 pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors MED26 HGNC ENSG00000105085 34 0 0 34 7 17.0732 GRWD1 0 genome.wustl.edu 37 19 48956279 48956279 + Silent SNP C C A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 19 48956279 48956279 C A SNP GRWD1 ENST00000253237 human ensembl 74_37 +1 known silent c.1338 p.V446 1.000 NULL pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors GRWD1 HGNC ENSG00000105447 41 0 0 31 3 8.82353 NAPSA 0 genome.wustl.edu 37 19 50864332 50864332 + Silent SNP G G A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 19 50864332 50864332 G A SNP NAPSA ENST00000253719 human ensembl 74_37 -1 known silent c.534 p.F178 0.288 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors NAPSA HGNC ENSG00000131400 134 0 0 92 21 18.5841 LILRA4 0 genome.wustl.edu 37 19 54848675 54848675 + Silent SNP G G A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 19 54848675 54848675 G A SNP LILRA4 ENST00000291759 human ensembl 74_37 -1 known silent c.948 p.I316 0.008 smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA4 HGNC ENSG00000239961 42 0 0 20 10 33.3333 USP29 0 genome.wustl.edu 37 19 57641825 57641825 + Silent SNP C C T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 19 57641825 57641825 C T SNP USP29 ENST00000254181 human ensembl 74_37 +1 known silent c.1782 p.P594 0.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP29 HGNC ENSG00000131864 77 0 0 64 13 16.8831 MUC16 0 genome.wustl.edu 37 19 9089753 9089753 + Missense_Mutation SNP A A G TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 19 9089753 9089753 A G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.2062 p.S688P 0.002 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 95 0 0 83 17 17 HS6ST1 0 genome.wustl.edu 37 2 129026419 129026419 + Nonsense_Mutation SNP G G A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 2 129026419 129026419 G A SNP HS6ST1 ENST00000259241 human ensembl 74_37 -1 known nonsense c.553 p.R185* 1.000 pfam_Sulfotransferase,superfamily_P-loop_NTPase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST1 HGNC ENSG00000136720 32 0 0 30 3 9.09091 LOC150776 0 genome.wustl.edu 37 2 132276254 132276254 + RNA SNP A A G TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 2 132276254 132276254 A G SNP LOC150776 ENST00000438378 human ensembl 74_37 +1 known rna NULL NULL 0.987 - - - no_errors AC093838.4 Clone_based_vega_gene ENSG00000152117 9 0 0 12 7 36.8421 B3GNT7 0 genome.wustl.edu 37 2 232263406 232263406 + Missense_Mutation SNP G G A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 2 232263406 232263406 G A SNP B3GNT7 ENST00000287590 human ensembl 74_37 +1 known missense c.976 p.D326N 1.000 pfam_Glyco_trans_31,pfam_Fringe-like pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT7 HGNC ENSG00000156966 16 0 0 22 7 24.1379 HELZ2 0 genome.wustl.edu 37 20 62196078 62196078 + Missense_Mutation SNP C C T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 20 62196078 62196078 C T SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known missense c.4097 p.C1366Y 0.079 NULL superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 15 0 0 12 5 29.4118 CDC45 0 genome.wustl.edu 37 22 19492984 19492984 + Silent SNP A A G TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 22 19492984 19492984 A G SNP CDC45 ENST00000437685 human ensembl 74_37 +1 known silent c.900 p.T300 0.439 pfam_CDC45 pfam_CDC45 - no_errors CDC45 HGNC ENSG00000093009 47 0 0 47 10 17.5439 CRELD2 0 genome.wustl.edu 37 22 50316016 50316016 + Missense_Mutation SNP G G A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 22 50316016 50316016 G A SNP CRELD2 ENST00000404488 human ensembl 74_37 +1 known missense c.664 p.A222T 0.000 superfamily_Growth_fac_rcpt_N_dom pfam_DUF3456,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_Furin_repeat,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors CRELD2 HGNC ENSG00000184164 15 0 0 17 3 15 DRD3 0 genome.wustl.edu 37 3 113858530 113858530 + Silent SNP G G T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 3 113858530 113858530 G T SNP DRD3 ENST00000383673 human ensembl 74_37 -1 known silent c.540 p.V180 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D3_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD3 HGNC ENSG00000151577 118 0 0 112 17 13.1783 SEMA5B 0 genome.wustl.edu 37 3 122680090 122680090 + Silent SNP C C T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 3 122680090 122680090 C T SNP SEMA5B ENST00000451055 human ensembl 74_37 -1 known silent c.183 p.P61 0.000 NULL pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 32 0 0 23 5 17.8571 ZBTB38 0 genome.wustl.edu 37 3 141161551 141161551 + Silent SNP C C T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 3 141161551 141161551 C T SNP ZBTB38 ENST00000321464 human ensembl 74_37 +1 known silent c.324 p.L108 0.087 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 45 0 0 63 10 13.6986 COL7A1 0 genome.wustl.edu 37 3 48621022 48621022 + Silent SNP G G A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 3 48621022 48621022 G A SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known silent c.4368 p.G1456 0.993 NULL pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 34 0 0 27 6 18.1818 RXFP1 0 genome.wustl.edu 37 4 159560437 159560437 + Missense_Mutation SNP A A G TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 4 159560437 159560437 A G SNP RXFP1 ENST00000307765 human ensembl 74_37 +1 known missense c.1069 p.N357D 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam - no_errors RXFP1 HGNC ENSG00000171509 36 0 0 34 5 12.8205 HSD17B4 0 genome.wustl.edu 37 5 118861675 118861675 + Missense_Mutation SNP A A G TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 5 118861675 118861675 A G SNP HSD17B4 ENST00000256216 human ensembl 74_37 +1 known missense c.1637 p.Q546R 0.998 pfam_MaoC_dom pfam_MaoC_dom,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC ENSG00000133835 89 0 0 85 18 17.4757 PCDHGA7 0 genome.wustl.edu 37 5 140764604 140764604 + Missense_Mutation SNP C C T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 5 140764604 140764604 C T SNP PCDHGA7 ENST00000518325 human ensembl 74_37 +1 known missense c.2138 p.A713V 0.546 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 62 0 0 63 13 17.1053 BDP1 0 genome.wustl.edu 37 5 70759924 70759924 + Silent SNP G G A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 5 70759924 70759924 G A SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known silent c.639 p.S213 0.001 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 46 0 0 36 4 10 ACOT12 0 genome.wustl.edu 37 5 80631636 80631636 + Missense_Mutation SNP G G A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 5 80631636 80631636 G A SNP ACOT12 ENST00000307624 human ensembl 74_37 -1 known missense c.1213 p.R405C 0.015 pfam_START_lipid-bd_dom,pfscan_START_lipid-bd_dom pfam_Thioestr_supf,pfam_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors ACOT12 HGNC ENSG00000172497 101 0 0 88 19 17.757 SYNE1 0 genome.wustl.edu 37 6 152631075 152631075 + Silent SNP G G A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 6 152631075 152631075 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.17097 p.P5699 0.026 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 25 0 0 30 6 16.6667 LPA 0 genome.wustl.edu 37 6 161015130 161015130 + Silent SNP G G A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 6 161015130 161015130 G A SNP LPA ENST00000316300 human ensembl 74_37 -1 known silent c.3489 p.P1163 0.268 superfamily_Kringle-like pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors LPA HGNC ENSG00000198670 99 0 0 95 20 17.3913 HSPA1L 0 genome.wustl.edu 37 6 31779057 31779057 + Silent SNP A A G TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 6 31779057 31779057 A G SNP HSPA1L ENST00000375654 human ensembl 74_37 -1 known silent c.693 p.G231 0.444 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1L HGNC ENSG00000204390 85 0 0 85 15 15 KIFC1 0 genome.wustl.edu 37 6 33372771 33372771 + Missense_Mutation SNP T T G TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 6 33372771 33372771 T G SNP KIFC1 ENST00000428849 human ensembl 74_37 +1 known missense c.899 p.L300R 0.986 superfamily_P-loop_NTPase pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC1 HGNC ENSG00000237649 74 0 0 63 10 13.6986 RIMS1 0 genome.wustl.edu 37 6 73102406 73102406 + Missense_Mutation SNP A A G TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 6 73102406 73102406 A G SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.4512 p.I1504M 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 56 0 0 34 12 26.087 TOP1MT 0 genome.wustl.edu 37 8 144400005 144400005 + Silent SNP C C T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 8 144400005 144400005 C T SNP TOP1MT ENST00000329245 human ensembl 74_37 -1 known silent c.1218 p.T406 0.002 pfam_TopoI_cat_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI - no_errors TOP1MT HGNC ENSG00000184428 25 0 0 19 5 20.8333 C8orf58 0 genome.wustl.edu 37 8 22458519 22458519 + Silent SNP C C T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 8 22458519 22458519 C T SNP C8orf58 ENST00000289989 human ensembl 74_37 +1 known silent c.165 p.V55 0.000 NULL NULL - no_errors C8orf58 HGNC ENSG00000241852 34 0 0 31 6 16.2162 ENTPD4 0 genome.wustl.edu 37 8 23305223 23305223 + Nonsense_Mutation SNP G G A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 8 23305223 23305223 G A SNP ENTPD4 ENST00000358689 human ensembl 74_37 -1 known nonsense c.382 p.R128* 1.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD4 HGNC ENSG00000197217 206 0 0 161 45 21.8447 KIF13B 0 genome.wustl.edu 37 8 28999695 28999695 + Silent SNP T T C TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 8 28999695 28999695 T C SNP KIF13B ENST00000524189 human ensembl 74_37 -1 known silent c.2313 p.K771 0.980 pfam_KIF1B pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 68 0 0 55 14 20.2899 AP3M2 0 genome.wustl.edu 37 8 42012282 42012282 + Missense_Mutation SNP G G A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 8 42012282 42012282 G A SNP AP3M2 ENST00000174653 human ensembl 74_37 +1 known missense c.77 p.R26H 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP3M2 HGNC ENSG00000070718 63 0 0 47 6 11.3208 PAPPA 0 genome.wustl.edu 37 9 118950313 118950313 + Silent SNP G G C TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 9 118950313 118950313 G C SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known silent c.1296 p.L432 1.000 pfam_Notch_dom,smart_Notch_dom pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 40 0 0 32 3 8.57143 GPSM1 0 genome.wustl.edu 37 9 139250955 139250955 + Missense_Mutation SNP C C A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 9 139250955 139250955 C A SNP GPSM1 ENST00000440944 human ensembl 74_37 +1 known missense c.1774 p.P592T 0.988 NULL pfam_GoLoco_motif,pfam_TPR_1,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GPSM1 HGNC ENSG00000160360 24 0 0 13 5 27.7778 CER1 0 genome.wustl.edu 37 9 14720137 14720137 + Missense_Mutation SNP A A G TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 9 14720137 14720137 A G SNP CER1 ENST00000380911 human ensembl 74_37 -1 known missense c.755 p.I252T 0.001 pfam_Cys_knot,pirsf_Cerberus pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Cerberus,pfscan_Cys_knot_C - no_errors CER1 HGNC ENSG00000147869 63 0 0 59 14 19.1781 PTENP1 0 genome.wustl.edu 37 9 33675588 33675588 + RNA SNP C C T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 9 33675588 33675588 C T SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.993 - - - no_errors PTENP1 HGNC ENSG00000237984 49 0 0 40 8 16.6667 AK3 0 genome.wustl.edu 37 9 4712977 4712977 + Nonstop_Mutation SNP C C G TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 9 4712977 4712977 C G SNP AK3 ENST00000381809 human ensembl 74_37 -1 known nonstop c.683 p.*228S 0.495 NULL pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub - no_errors AK3 HGNC ENSG00000147853 73 0 0 54 9 14.2857 LOC100996870 0 genome.wustl.edu 37 9 66465815 66465815 + RNA SNP C C T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 9 66465815 66465815 C T SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.146 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 14 0 0 14 5 26.3158 LOC100996870 0 genome.wustl.edu 37 9 66466197 66466197 + RNA SNP T T A TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 9 66466197 66466197 T A SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.165 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 32 0 0 43 3 6.52174 L1CAM 0 genome.wustl.edu 37 X 153129907 153129907 + Silent SNP C C T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a X 153129907 153129907 C T SNP L1CAM ENST00000543994 human ensembl 74_37 -1 known silent c.3198 p.S1066 0.000 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors L1CAM HGNC ENSG00000198910 55 0 0 51 26 33.7662 ASH1L 0 genome.wustl.edu 37 1 155451842 155451843 + Frame_Shift_Ins INS - - T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 1 155451842 155451843 - T INS ASH1L ENST00000368346 human ensembl 74_37 -1 known frame_shift_ins c.819_818 p.P274fs 0.944:0.998 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 105 0 0 82 20 19.6078 INPPL1 0 genome.wustl.edu 37 11 71948209 71948209 + Frame_Shift_Del DEL C C - TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 11 71948209 71948209 C - DEL INPPL1 ENST00000298229 human ensembl 74_37 +1 known frame_shift_del c.2921 p.P976fs 0.066 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 55 0 0 58 15 20.5479 MON2 0 genome.wustl.edu 37 12 62954432 62954433 + Frame_Shift_Del DEL GT GT - TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 12 62954432 62954433 GT - DEL MON2 ENST00000393630 human ensembl 74_37 +1 known frame_shift_del c.3574_3575 p.V1192fs 0.976:0.977 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold - no_errors MON2 HGNC ENSG00000061987 74 0 0 66 11 14.2857 SPATA3 0 genome.wustl.edu 37 2 231861033 231861059 + In_Frame_Del DEL CAGCAGCCTAGCCCTGAATCCACACCA CAGCAGCCTAGCCCTGAATCCACACCA - TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 CAGCAGCCTAGCCCTGAATCCACACCA CAGCAGCCTAGCCCTGAATCCACACCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 2 231861033 231861059 CAGCAGCCTAGCCCTGAATCCACACCA - DEL SPATA3 ENST00000424440 human ensembl 74_37 +1 known in_frame_del c.85_111 p.SPESTPQQP32in_frame_del 0.001:0.000:0.000:0.002:0.020:0.041:0.034:0.035:0.032:0.078:0.079:0.009:0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.001:0.002:0.000:0.000:0.000:0.000:0.002:0.000 NULL NULL - no_errors SPATA3 HGNC ENSG00000173699 16 0 0 15 13 46.4286 BRWD1 0 genome.wustl.edu 37 21 40587280 40587280 + Frame_Shift_Del DEL G G - TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 21 40587280 40587280 G - DEL BRWD1 ENST00000333229 human ensembl 74_37 -1 known frame_shift_del c.3668 p.S1223fs 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 68 0 0 80 6 6.97674 RRH 0 genome.wustl.edu 37 4 110756540 110756541 + Frame_Shift_Ins INS - - T TCGA-BR-4279-01A-01D-1126-08 TCGA-BR-4279-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee907395-2e2f-471b-8840-f8b261a8c8f6 39c01fd0-41e5-402a-9060-6052f32ea50a 4 110756540 110756541 - T INS RRH ENST00000317735 human ensembl 74_37 +1 known frame_shift_ins c.316_317 p.G109fs 1.000:1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin,prints_GPCR_Rhodpsn - no_errors RRH HGNC ENSG00000180245 78 0 0 91 5 5.20833