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 RAB13 0 genome.wustl.edu 37 1 153954550 153954550 + RNA SNP G G A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 1 153954550 153954550 G A SNP RAB13 ENST00000462680 human ensembl 74_37 -1 known rna NULL NULL 0.052 - - - no_errors RAB13 HGNC ENSG00000143545 31 0 0 30 4 11.7647 HSPA6 0 genome.wustl.edu 37 1 161495404 161495404 + Missense_Mutation SNP T T G TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 1 161495404 161495404 T G SNP HSPA6 ENST00000309758 human ensembl 74_37 +1 known missense c.956 p.V319G 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA6 HGNC ENSG00000173110 18 0 0 21 3 12.5 RPL11 0 genome.wustl.edu 37 1 24018320 24018320 + Splice_Site SNP G G T TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 1 24018320 24018320 G T SNP RPL11 ENST00000374550 human ensembl 74_37 +1 known splice_site c.6+1 e1+1 1.000 - - - no_errors RPL11 HGNC ENSG00000142676 64 0 0 64 17 20.9877 PAQR7 0 genome.wustl.edu 37 1 26189730 26189730 + Silent SNP G G A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 1 26189730 26189730 G A SNP PAQR7 ENST00000374296 human ensembl 74_37 -1 known silent c.601 p.L201 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR7 HGNC ENSG00000182749 33 0 0 36 4 10 WDR65 0 genome.wustl.edu 37 1 43647330 43647330 + Missense_Mutation SNP C C T TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 1 43647330 43647330 C T SNP WDR65 ENST00000528956 human ensembl 74_37 +1 known missense c.283 p.R95W 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR65 HGNC ENSG00000243710 48 0 0 50 6 10.7143 ATP6V0B 0 genome.wustl.edu 37 1 44442011 44442011 + Nonsense_Mutation SNP G G T TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 1 44442011 44442011 G T SNP ATP6V0B ENST00000472174 human ensembl 74_37 +1 known nonsense c.238 p.G80* 1.000 pfam_ATPase_proteolipid_c_like_dom,superfamily_ATPase_proteolipid_c_like_dom,prints_ATPase_proteolipid_csu pfam_ATPase_proteolipid_c_like_dom,superfamily_ATPase_proteolipid_c_like_dom,prints_ATPase_proteolipid_csu - no_errors ATP6V0B HGNC ENSG00000117410 32 0 0 31 2 6.06061 PTGFR 0 genome.wustl.edu 37 1 78958499 78958499 + Missense_Mutation SNP C C T TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 1 78958499 78958499 C T SNP PTGFR ENST00000370757 human ensembl 74_37 +1 known missense c.71 p.T24M 0.996 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_PglndnF_rcpt,prints_Prostanoid_rcpt,prints_Thbox_rcpt,prints_GPCR_Rhodpsn - no_errors PTGFR HGNC ENSG00000122420 36 0 0 38 6 13.6364 RPL5 0 genome.wustl.edu 37 1 93301861 93301861 + Missense_Mutation SNP G G C TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 1 93301861 93301861 G C SNP RPL5 ENST00000370321 human ensembl 74_37 +1 known missense c.439 p.D147H 1.000 pfam_Ribosomal_L18/L5,prints_Rbsml_L5_euk/L18_arc pfam_Ribosomal_L18/L5,prints_Rbsml_L5_euk/L18_arc - no_errors RPL5 HGNC ENSG00000122406 66 0 0 59 4 6.34921 C10orf90 0 genome.wustl.edu 37 10 128147749 128147749 + Missense_Mutation SNP C C T TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 10 128147749 128147749 C T SNP C10orf90 ENST00000544758 human ensembl 74_37 -1 known missense c.2048 p.R683H 1.000 NULL NULL - no_errors C10orf90 HGNC ENSG00000154493 41 0 0 40 5 11.1111 DDX21 0 genome.wustl.edu 37 10 70716038 70716038 + Silent SNP A A G TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 10 70716038 70716038 A G SNP DDX21 ENST00000354185 human ensembl 74_37 +1 known silent c.57 p.K19 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX21 HGNC ENSG00000165732 21 0 0 30 6 16.6667 PRF1 0 genome.wustl.edu 37 10 72360571 72360571 + Missense_Mutation SNP C C G TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 10 72360571 72360571 C G SNP PRF1 ENST00000373209 human ensembl 74_37 -1 known missense c.88 p.E30Q 0.987 NULL pfam_MACPF,pfam_C2_dom,superfamily_C2_dom,smart_MACPF,smart_C2_dom,pfscan_C2_dom - no_errors PRF1 HGNC ENSG00000180644 21 0 0 17 5 22.7273 SIK3 0 genome.wustl.edu 37 11 116730231 116730231 + Missense_Mutation SNP C C T TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 11 116730231 116730231 C T SNP SIK3 ENST00000375300 human ensembl 74_37 -1 known missense c.2371 p.V791M 0.253 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SIK3 HGNC ENSG00000160584 66 0 0 40 6 13.0435 OR51G2 0 genome.wustl.edu 37 11 4936743 4936743 + Missense_Mutation SNP G G C TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 11 4936743 4936743 G C SNP OR51G2 ENST00000322013 human ensembl 74_37 -1 known missense c.151 p.L51V 0.023 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51G2 HGNC ENSG00000176893 43 0 0 55 3 5.17241 OR4C15 0 genome.wustl.edu 37 11 55321938 55321938 + Missense_Mutation SNP G G C TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 11 55321938 55321938 G C SNP OR4C15 ENST00000314644 human ensembl 74_37 +1 known missense c.156 p.L52F 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 53 0 0 51 7 12.069 SHANK2 0 genome.wustl.edu 37 11 70332306 70332306 + Silent SNP G G C TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 11 70332306 70332306 G C SNP SHANK2 ENST00000338508 human ensembl 74_37 -1 known silent c.4095 p.A1365 0.733 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 34 0 0 46 5 9.80392 PCF11 0 genome.wustl.edu 37 11 82868552 82868552 + Nonsense_Mutation SNP C C G TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 11 82868552 82868552 C G SNP PCF11 ENST00000298281 human ensembl 74_37 +1 known nonsense c.71 p.S24* 1.000 superfamily_ENTH_VHS,smart_CID_dom pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors PCF11 HGNC ENSG00000165494 66 0 0 57 25 30.4878 PCF11 0 genome.wustl.edu 37 11 82868584 82868584 + Missense_Mutation SNP C C G TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 11 82868584 82868584 C G SNP PCF11 ENST00000298281 human ensembl 74_37 +1 known missense c.103 p.P35A 1.000 superfamily_ENTH_VHS,smart_CID_dom pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors PCF11 HGNC ENSG00000165494 72 0 0 70 29 29.2929 PCF11 0 genome.wustl.edu 37 11 82868592 82868592 + Silent SNP C C T TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 11 82868592 82868592 C T SNP PCF11 ENST00000298281 human ensembl 74_37 +1 known silent c.111 p.I37 1.000 superfamily_ENTH_VHS,smart_CID_dom pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors PCF11 HGNC ENSG00000165494 72 0 0 68 31 31.3131 DENND5A 0 genome.wustl.edu 37 11 9225374 9225374 + Missense_Mutation SNP T T G TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 11 9225374 9225374 T G SNP DENND5A ENST00000328194 human ensembl 74_37 -1 known missense c.782 p.K261T 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_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 61 0 0 63 10 13.6986 OAS1 0 genome.wustl.edu 37 12 113348870 113348870 + Missense_Mutation SNP G G A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 12 113348870 113348870 G A SNP OAS1 ENST00000445409 human ensembl 74_37 +1 known missense c.484 p.G162S 0.000 NULL pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS1 HGNC ENSG00000089127 17 0 0 24 30 55.5556 VWF 0 genome.wustl.edu 37 12 6128084 6128084 + Silent SNP C C T TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 12 6128084 6128084 C T SNP VWF ENST00000261405 human ensembl 74_37 -1 known silent c.4500 p.A1500 0.484 pirsf_VWF,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 14 0 0 21 3 12.5 FREM2 0 genome.wustl.edu 37 13 39264487 39264487 + Silent SNP G G A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 13 39264487 39264487 G A SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known silent c.3006 p.E1002 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 57 0 0 68 15 18.0723 MIS18BP1 0 genome.wustl.edu 37 14 45693557 45693557 + Missense_Mutation SNP T T C TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 14 45693557 45693557 T C SNP MIS18BP1 ENST00000310806 human ensembl 74_37 -1 known missense c.2233 p.T745A 0.008 NULL pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 26 0 0 14 6 30 NDUFB1 0 genome.wustl.edu 37 14 92583890 92583890 + Missense_Mutation SNP C C A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 14 92583890 92583890 C A SNP NDUFB1 ENST00000329559 human ensembl 74_37 -1 known missense c.233 p.S78I 0.970 pfam_NADH_UbQ_OxRdtase_MNLL_su pfam_NADH_UbQ_OxRdtase_MNLL_su - no_errors NDUFB1 HGNC ENSG00000183648 24 0 0 32 3 8.57143 ALDH1A3 0 genome.wustl.edu 37 15 101447328 101447328 + Missense_Mutation SNP T T G TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 15 101447328 101447328 T G SNP ALDH1A3 ENST00000329841 human ensembl 74_37 +1 known missense c.1236 p.I412M 0.989 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A3 HGNC ENSG00000184254 25 0 0 29 8 21.6216 TRPM7 0 genome.wustl.edu 37 15 50902160 50902160 + Splice_Site SNP T T A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 15 50902160 50902160 T A SNP TRPM7 ENST00000313478 human ensembl 74_37 -1 known splice_site c.2281-2 e18-2 1.000 - - - no_errors TRPM7 HGNC ENSG00000092439 18 0 0 19 2 9.52381 SMAD3 0 genome.wustl.edu 37 15 67479784 67479784 + Missense_Mutation SNP A A G TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 15 67479784 67479784 A G SNP SMAD3 ENST00000327367 human ensembl 74_37 +1 known missense c.1091 p.Y364C 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,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD3 HGNC ENSG00000166949 62 0 0 52 11 17.4603 HAPLN3 0 genome.wustl.edu 37 15 89421430 89421430 + Missense_Mutation SNP G G A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 15 89421430 89421430 G A SNP HAPLN3 ENST00000359595 human ensembl 74_37 -1 known missense c.854 p.A285V 1.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN3 HGNC ENSG00000140511 101 0 0 130 21 13.9073 SLC7A6 0 genome.wustl.edu 37 16 68330347 68330347 + Missense_Mutation SNP C C A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 16 68330347 68330347 C A SNP SLC7A6 ENST00000219343 human ensembl 74_37 +1 known missense c.1200 p.F400L 0.888 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A6 HGNC ENSG00000103064 45 0 0 64 8 11.1111 CDH1 0 genome.wustl.edu 37 16 68844172 68844172 + Missense_Mutation SNP G G T TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 16 68844172 68844172 G T SNP CDH1 ENST00000261769 human ensembl 74_37 +1 known missense c.760 p.D254Y 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_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 77 0 0 55 22 28.5714 GAN 0 genome.wustl.edu 37 16 81399030 81399030 + Silent SNP G G A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 16 81399030 81399030 G A SNP GAN ENST00000568107 human ensembl 74_37 +1 known silent c.1449 p.Q483 0.993 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors GAN HGNC ENSG00000261609 86 0 0 97 6 5.82524 KRTAP9-3 0 genome.wustl.edu 37 17 39388890 39388890 + Missense_Mutation SNP G G C TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 17 39388890 39388890 G C SNP KRTAP9-3 ENST00000411528 human ensembl 74_37 +1 known missense c.137 p.C46S 0.995 NULL NULL - no_errors KRTAP9-3 HGNC ENSG00000204873 53 0 0 51 14 21.5385 ALOX15 0 genome.wustl.edu 37 17 4542725 4542725 + Missense_Mutation SNP C C T TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 17 4542725 4542725 C T SNP ALOX15 ENST00000545513 human ensembl 74_37 -1 known missense c.403 p.G135S 1.000 superfamily_LipOase_C,pfscan_PLAT/LH2_dom pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX15 HGNC ENSG00000161905 46 0 0 37 5 11.9048 RGS9 0 genome.wustl.edu 37 17 63221598 63221598 + Missense_Mutation SNP T T C TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 17 63221598 63221598 T C SNP RGS9 ENST00000262406 human ensembl 74_37 +1 known missense c.1886 p.V629A 0.009 NULL pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS9 HGNC ENSG00000108370 59 0 0 70 4 5.40541 SLC13A5 0 genome.wustl.edu 37 17 6607292 6607292 + Missense_Mutation SNP A A T TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 17 6607292 6607292 A T SNP SLC13A5 ENST00000433363 human ensembl 74_37 -1 known missense c.452 p.I151N 0.999 pfam_Na/sul_symport,pfam_Cit_transptr-like_dom pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A5 HGNC ENSG00000141485 26 0 0 28 6 17.6471 DCC 0 genome.wustl.edu 37 18 50592506 50592506 + Missense_Mutation SNP A A G TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 18 50592506 50592506 A G SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.1231 p.T411A 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,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 DCC HGNC ENSG00000187323 40 0 0 25 10 28.5714 ZNF93 0 genome.wustl.edu 37 19 20045214 20045214 + Missense_Mutation SNP G G A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 19 20045214 20045214 G A SNP ZNF93 ENST00000343769 human ensembl 74_37 +1 known missense c.1450 p.E484K 0.207 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 ZNF93 HGNC ENSG00000184635 29 0 0 35 10 22.2222 RBM42 0 genome.wustl.edu 37 19 36128216 36128216 + Missense_Mutation SNP A A G TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 19 36128216 36128216 A G SNP RBM42 ENST00000262633 human ensembl 74_37 +1 known missense c.1292 p.D431G 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM42 HGNC ENSG00000126254 60 0 0 78 9 10.3448 EEF2 0 genome.wustl.edu 37 19 3982022 3982022 + Missense_Mutation SNP T T C TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 19 3982022 3982022 T C SNP EEF2 ENST00000309311 human ensembl 74_37 -1 known missense c.820 p.S274G 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC ENSG00000167658 65 0 0 74 7 8.64198 MAP3K10 0 genome.wustl.edu 37 19 40711185 40711185 + Missense_Mutation SNP C C A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 19 40711185 40711185 C A SNP MAP3K10 ENST00000253055 human ensembl 74_37 +1 known missense c.1170 p.D390E 1.000 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K10 HGNC ENSG00000130758 37 0 0 35 4 10.2564 SPOPL 0 genome.wustl.edu 37 2 139308612 139308612 + Missense_Mutation SNP A A G TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 2 139308612 139308612 A G SNP SPOPL ENST00000280098 human ensembl 74_37 +1 known missense c.340 p.T114A 1.000 pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH - no_errors SPOPL HGNC ENSG00000144228 33 0 0 23 2 8 SCN7A 0 genome.wustl.edu 37 2 167262220 167262220 + Missense_Mutation SNP C C T TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 2 167262220 167262220 C T SNP SCN7A ENST00000409855 human ensembl 74_37 -1 known missense c.4919 p.R1640H 0.956 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 70 0 0 55 18 24.6575 SOCS5 0 genome.wustl.edu 37 2 46985771 46985771 + Silent SNP C C T TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 2 46985771 46985771 C T SNP SOCS5 ENST00000306503 human ensembl 74_37 +1 known silent c.102 p.S34 0.992 NULL pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS5 HGNC ENSG00000171150 32 0 0 33 2 5.71429 FRG1B 0 genome.wustl.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 20 29625877 29625877 G A SNP FRG1B ENST00000278882 human ensembl 74_37 +1 known missense c.121 p.A41T 1.000 pfam_FRG1,superfamily_Actin_cross-linking pfam_FRG1,superfamily_Actin_cross-linking - no_errors FRG1B HGNC ENSG00000149531 51 0 0 54 4 6.89655 MYH9 0 genome.wustl.edu 37 22 36681289 36681289 + Missense_Mutation SNP G G T TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 22 36681289 36681289 G T SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.5361 p.N1787K 1.000 pfam_Myosin_tail,superfamily_Regulat_G_prot_signal_superfam pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 72 0 0 66 9 12 ELFN2 0 genome.wustl.edu 37 22 37771219 37771219 + Missense_Mutation SNP G G A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 22 37771219 37771219 G A SNP ELFN2 ENST00000402918 human ensembl 74_37 -1 known missense c.356 p.T119M 1.000 smart_Leu-rich_rpt_typical-subtyp superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor - no_errors ELFN2 HGNC ENSG00000166897 66 0 0 75 6 7.40741 CARD10 0 genome.wustl.edu 37 22 37903838 37903838 + Missense_Mutation SNP G G C TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 22 37903838 37903838 G C SNP CARD10 ENST00000251973 human ensembl 74_37 -1 known missense c.1189 p.Q397E 1.000 NULL pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD10 HGNC ENSG00000100065 106 0 0 101 7 6.48148 HDAC10 0 genome.wustl.edu 37 22 50686482 50686482 + Missense_Mutation SNP C C A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 22 50686482 50686482 C A SNP HDAC10 ENST00000216271 human ensembl 74_37 -1 known missense c.1174 p.A392S 0.000 NULL pfam_His_deacetylse_dom,prints_His_deacetylse - no_errors HDAC10 HGNC ENSG00000100429 36 0 0 22 4 15.3846 ACAD11 0 genome.wustl.edu 37 3 132350306 132350306 + Silent SNP C C T TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 3 132350306 132350306 C T SNP ACAD11 ENST00000264990 human ensembl 74_37 -1 known silent c.720 p.V240 0.897 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom - no_errors ACAD11 HGNC ENSG00000240303 25 0 0 34 4 10.5263 MME 0 genome.wustl.edu 37 3 154858007 154858007 + Missense_Mutation SNP G G T TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 3 154858007 154858007 G T SNP MME ENST00000360490 human ensembl 74_37 +1 known missense c.883 p.D295Y 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MME HGNC ENSG00000196549 31 0 0 20 2 9.09091 AP3S1 0 genome.wustl.edu 37 5 115238635 115238635 + Silent SNP T T C TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 5 115238635 115238635 T C SNP AP3S1 ENST00000316788 human ensembl 74_37 +1 known silent c.399 p.N133 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP3S1 HGNC ENSG00000177879 27 0 0 44 6 12 CDHR2 0 genome.wustl.edu 37 5 176017146 176017146 + Missense_Mutation SNP C C T TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 5 176017146 176017146 C T SNP CDHR2 ENST00000261944 human ensembl 74_37 +1 known missense c.3274 p.R1092W 0.073 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 177 0 0 179 33 15.566 PDE4D 0 genome.wustl.edu 37 5 58273028 58273028 + Missense_Mutation SNP A A G TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 5 58273028 58273028 A G SNP PDE4D ENST00000340635 human ensembl 74_37 -1 known missense c.1697 p.V566A 1.000 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,prints_PDEase - no_errors PDE4D HGNC ENSG00000113448 28 0 0 44 5 10.2041 F2R 0 genome.wustl.edu 37 5 76029103 76029103 + Missense_Mutation SNP T T A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 5 76029103 76029103 T A SNP F2R ENST00000319211 human ensembl 74_37 +1 known missense c.1053 p.F351L 0.957 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thrmbn_rcpt,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors F2R HGNC ENSG00000181104 52 0 0 67 5 6.94444 HLA-A 0 genome.wustl.edu 37 6 29910693 29910693 + Missense_Mutation SNP A A G TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 6 29910693 29910693 A G SNP HLA-A ENST00000376806 human ensembl 74_37 +1 known missense c.233 p.Q78R 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-A HGNC ENSG00000206503 27 0 0 33 6 15.3846 IRF4 0 genome.wustl.edu 37 6 401655 401655 + Missense_Mutation SNP C C T TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 6 401655 401655 C T SNP IRF4 ENST00000380956 human ensembl 74_37 +1 known missense c.977 p.A326V 1.000 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF4 HGNC ENSG00000137265 32 0 0 32 4 11.1111 ORC3 0 genome.wustl.edu 37 6 88318928 88318928 + Missense_Mutation SNP G G C TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 6 88318928 88318928 G C SNP ORC3 ENST00000257789 human ensembl 74_37 +1 known missense c.694 p.D232H 1.000 pfam_ORC3 pfam_ORC3 - no_errors ORC3 HGNC ENSG00000135336 25 0 0 37 6 13.9535 PLXNA4 0 genome.wustl.edu 37 7 131883272 131883272 + Missense_Mutation SNP A A C TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 7 131883272 131883272 A C SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.2710 p.L904V 0.011 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 15 0 0 23 3 11.5385 MGAM 0 genome.wustl.edu 37 7 141759274 141759274 + Silent SNP T T C TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 7 141759274 141759274 T C SNP MGAM ENST00000549489 human ensembl 74_37 +1 known silent c.3822 p.D1274 0.847 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 10 0 0 8 6 42.8571 SSPO 0 genome.wustl.edu 37 7 149498906 149498906 + RNA SNP C C A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 7 149498906 149498906 C A SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.024 - - - no_errors SSPO HGNC ENSG00000197558 18 0 0 19 4 17.3913 ZNF572 0 genome.wustl.edu 37 8 125989941 125989941 + Silent SNP C C T TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 8 125989941 125989941 C T SNP ZNF572 ENST00000319286 human ensembl 74_37 +1 known silent c.1431 p.F477 0.999 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF572 HGNC ENSG00000180938 81 0 0 104 12 10.3448 PENK 0 genome.wustl.edu 37 8 57354302 57354302 + Missense_Mutation SNP C C A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 8 57354302 57354302 C A SNP PENK ENST00000314922 human ensembl 74_37 -1 known missense c.333 p.M111I 1.000 NULL pfam_Opioid_neupept,prints_Proenkphlin_A,prints_Opioid_neupept - no_errors PENK HGNC ENSG00000181195 46 0 0 55 7 11.2903 SULF1 0 genome.wustl.edu 37 8 70488242 70488242 + Missense_Mutation SNP G G A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 8 70488242 70488242 G A SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known missense c.210 p.M70I 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 20 0 0 15 5 25 CPNE3 0 genome.wustl.edu 37 8 87540876 87540876 + Missense_Mutation SNP T T A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 8 87540876 87540876 T A SNP CPNE3 ENST00000198765 human ensembl 74_37 +1 known missense c.103 p.L35M 0.995 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE3 HGNC ENSG00000085719 15 0 0 15 2 11.7647 MLLT3 0 genome.wustl.edu 37 9 20346483 20346483 + Silent SNP G G A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 9 20346483 20346483 G A SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known silent c.1665 p.V555 0.985 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 25 0 0 30 4 11.7647 TOPORS 0 genome.wustl.edu 37 9 32543727 32543727 + Missense_Mutation SNP C C G TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 9 32543727 32543727 C G SNP TOPORS ENST00000360538 human ensembl 74_37 -1 known missense c.796 p.G266R 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors TOPORS HGNC ENSG00000197579 37 0 0 36 6 14.2857 FMR1 0 genome.wustl.edu 37 X 147007065 147007065 + Missense_Mutation SNP C C G TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 X 147007065 147007065 C G SNP FMR1 ENST00000370475 human ensembl 74_37 +1 known missense c.112 p.P38A 1.000 NULL pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FMR1 HGNC ENSG00000102081 41 0 0 39 5 11.3636 CLCN5 0 genome.wustl.edu 37 X 49834605 49834605 + Missense_Mutation SNP C C A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 X 49834605 49834605 C A SNP CLCN5 ENST00000376088 human ensembl 74_37 +1 known missense c.235 p.P79T 1.000 NULL pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-5 - no_errors CLCN5 HGNC ENSG00000171365 24 0 0 22 5 18.5185 MAGED1 0 genome.wustl.edu 37 X 51640687 51640687 + Missense_Mutation SNP G G A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 X 51640687 51640687 G A SNP MAGED1 ENST00000375695 human ensembl 74_37 +1 known missense c.1699 p.E567K 1.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGED1 HGNC ENSG00000179222 52 0 0 45 5 10 ATRX 0 genome.wustl.edu 37 X 76937284 76937284 + Nonsense_Mutation SNP G G C TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 X 76937284 76937284 G C SNP ATRX ENST00000373344 human ensembl 74_37 -1 known nonsense c.3464 p.S1155* 0.997 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 47 0 0 43 3 6.52174 NOTCH2 0 genome.wustl.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 1 120612003 120612004 GG - DEL NOTCH2 ENST00000256646 human ensembl 74_37 -1 known frame_shift_del c.18_17 p.P6fs 0.101:0.700 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 10 0 0 15 7 31.8182