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 NBPF9 0 genome.wustl.edu 37 1 144828599 144828599 + Missense_Mutation SNP G G A TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 1 144828599 144828599 G A SNP NBPF9 ENST00000281815 human ensembl 74_37 +1 known missense c.439 p.G147R 0.014 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF9 HGNC ENSG00000168614 121 0 0 90 7 7.21649 PDE4DIP 0 genome.wustl.edu 37 1 144892368 144892368 + RNA SNP A A T TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 1 144892368 144892368 A T SNP PDE4DIP ENST00000467859 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors PDE4DIP HGNC ENSG00000178104 8 0 0 3 4 57.1429 FCRL3 0 genome.wustl.edu 37 1 157667132 157667132 + Missense_Mutation SNP C C G TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 1 157667132 157667132 C G SNP FCRL3 ENST00000492769 human ensembl 74_37 -1 known missense c.642 p.Q214H 0.227 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 49 0 0 40 10 20 ESPNP 0 genome.wustl.edu 37 1 17023403 17023403 + RNA SNP G G A TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 1 17023403 17023403 G A SNP ESPNP ENST00000492551 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ESPNP HGNC ENSG00000268869 13 0 0 11 6 35.2941 MROH7-TTC4 0 genome.wustl.edu 37 1 55166016 55166016 + Missense_Mutation SNP G G A TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 1 55166016 55166016 G A SNP MROH7-TTC4 ENST00000414150 human ensembl 74_37 +1 known missense c.2987 p.R996H 0.689 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH7-TTC4 HGNC ENSG00000271723 14 0 0 15 3 16.6667 OPCML 0 genome.wustl.edu 37 11 132290138 132290138 + Silent SNP A A G TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 11 132290138 132290138 A G SNP OPCML ENST00000541867 human ensembl 74_37 -1 known silent c.1014 p.A338 0.986 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors OPCML HGNC ENSG00000183715 27 0 0 45 10 18.1818 OR51B5 0 genome.wustl.edu 37 11 5364208 5364208 + Missense_Mutation SNP T T A TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 11 5364208 5364208 T A SNP OR51B5 ENST00000300773 human ensembl 74_37 -1 known missense c.547 p.I183F 0.813 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51B5 HGNC ENSG00000242180 72 0 0 57 18 24 UTP20 0 genome.wustl.edu 37 12 101679619 101679619 + Missense_Mutation SNP C C G TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 12 101679619 101679619 C G SNP UTP20 ENST00000261637 human ensembl 74_37 +1 known missense c.286 p.L96V 1.000 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 22 0 0 33 6 15.3846 PAH 0 genome.wustl.edu 37 12 103249044 103249044 + Missense_Mutation SNP C C A TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 12 103249044 103249044 C A SNP PAH ENST00000553106 human ensembl 74_37 -1 known missense c.576 p.K192N 0.996 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Phe-4-hydroxylase_tetra pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Phe-4-hydroxylase_tetra - no_errors PAH HGNC ENSG00000171759 27 0 0 18 4 18.1818 SOX5 0 genome.wustl.edu 37 12 23893843 23893843 + Missense_Mutation SNP T T G TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 12 23893843 23893843 T G SNP SOX5 ENST00000451604 human ensembl 74_37 -1 known missense c.699 p.K233N 0.997 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX5 HGNC ENSG00000134532 28 0 0 26 4 13.3333 WNT10B 0 genome.wustl.edu 37 12 49361823 49361823 + Missense_Mutation SNP C C G TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 12 49361823 49361823 C G SNP WNT10B ENST00000301061 human ensembl 74_37 -1 known missense c.617 p.G206A 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt10 - no_errors WNT10B HGNC ENSG00000169884 24 0 0 22 5 18.5185 PTGES3 0 genome.wustl.edu 37 12 57066579 57066579 + Missense_Mutation SNP C C T TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 12 57066579 57066579 C T SNP PTGES3 ENST00000262033 human ensembl 74_37 -1 known missense c.131 p.S44N 1.000 pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors PTGES3 HGNC ENSG00000110958 18 0 0 8 3 27.2727 PTPRB 0 genome.wustl.edu 37 12 70918346 70918346 + Missense_Mutation SNP C C T TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 12 70918346 70918346 C T SNP PTPRB ENST00000334414 human ensembl 74_37 -1 known missense c.6530 p.C2177Y 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 27 0 0 18 3 14.2857 WASH3P 0 genome.wustl.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 15 102515299 102515299 G A SNP WASH3P ENST00000557932 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors WASH3P HGNC ENSG00000185596 18 0 0 9 3 25 INO80 0 genome.wustl.edu 37 15 41277579 41277579 + Missense_Mutation SNP C C A TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 15 41277579 41277579 C A SNP INO80 ENST00000361937 human ensembl 74_37 -1 known missense c.3878 p.R1293L 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors INO80 HGNC ENSG00000128908 38 0 0 25 3 10.7143 TRIM69 0 genome.wustl.edu 37 15 45047126 45047126 + Missense_Mutation SNP A A G TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 15 45047126 45047126 A G SNP TRIM69 ENST00000329464 human ensembl 74_37 +1 known missense c.35 p.D12G 0.000 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,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors TRIM69 HGNC ENSG00000185880 53 0 0 46 7 13.2075 ZP2 0 genome.wustl.edu 37 16 21215498 21215498 + Silent SNP G G T TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 16 21215498 21215498 G T SNP ZP2 ENST00000219593 human ensembl 74_37 -1 known silent c.825 p.L275 0.396 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP2 HGNC ENSG00000103310 39 0 0 33 2 5.71429 EIF3C 0 genome.wustl.edu 37 16 28734801 28734801 + Missense_Mutation SNP G G T TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 16 28734801 28734801 G T SNP EIF3C ENST00000331666 human ensembl 74_37 +1 known missense c.969 p.E323D 1.000 pfam_EIF3C_N_dom pfam_EIF3C_N_dom,pfam_PCI_dom,smart_PCI_dom - no_errors EIF3C HGNC ENSG00000184110 132 0 0 88 17 16.1905 NIP7 0 genome.wustl.edu 37 16 69374272 69374272 + Missense_Mutation SNP G G A TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 16 69374272 69374272 G A SNP NIP7 ENST00000569637 human ensembl 74_37 +1 putative missense c.319 p.E107K 0.000 NULL NULL - no_errors NIP7 HGNC ENSG00000132603 31 0 0 22 6 21.4286 SPACA3 0 genome.wustl.edu 37 17 31323950 31323950 + Missense_Mutation SNP A A C TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 17 31323950 31323950 A C SNP SPACA3 ENST00000269053 human ensembl 74_37 +1 known missense c.433 p.I145L 1.000 pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22 pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors SPACA3 HGNC ENSG00000141316 58 0 0 45 13 22.4138 RSAD1 0 genome.wustl.edu 37 17 48562190 48562190 + Nonsense_Mutation SNP C C T TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 17 48562190 48562190 C T SNP RSAD1 ENST00000258955 human ensembl 74_37 +1 known nonsense c.1297 p.Q433* 0.020 NULL pfam_HemN_C_dom,pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel - no_errors RSAD1 HGNC ENSG00000136444 13 0 0 7 4 36.3636 ABCA9 0 genome.wustl.edu 37 17 66980283 66980283 + Silent SNP C C T TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 17 66980283 66980283 C T SNP ABCA9 ENST00000340001 human ensembl 74_37 -1 known silent c.4413 p.E1471 0.009 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 40 0 0 34 4 10.5263 NPIPB1P 0 genome.wustl.edu 37 18 11619636 11619636 + RNA SNP C C G TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 18 11619636 11619636 C G SNP NPIPB1P ENST00000547442 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors NPIPB1P HGNC ENSG00000257513 25 0 0 15 4 21.0526 TSSK6 0 genome.wustl.edu 37 19 19625817 19625817 + Silent SNP G G A TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 19 19625817 19625817 G A SNP TSSK6 ENST00000360913 human ensembl 74_37 -1 known silent c.420 p.N140 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TSSK6 HGNC ENSG00000178093 49 0 0 33 6 15.3846 ZNF461 0 genome.wustl.edu 37 19 37130886 37130886 + Nonsense_Mutation SNP C C A TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 19 37130886 37130886 C A SNP ZNF461 ENST00000588268 human ensembl 74_37 -1 known nonsense c.361 p.E121* 0.201 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF461 HGNC ENSG00000197808 52 0 0 27 13 32.5 RYR1 0 genome.wustl.edu 37 19 38966037 38966037 + Missense_Mutation SNP G G A TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 19 38966037 38966037 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.4240 p.V1414M 0.999 pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 19 0 0 14 8 36.3636 EXOC3L2 0 genome.wustl.edu 37 19 45728123 45728123 + Silent SNP C C T TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 19 45728123 45728123 C T SNP EXOC3L2 ENST00000252482 human ensembl 74_37 -1 known silent c.453 p.P151 0.196 pfam_Sec6 pfam_Sec6,superfamily_Tet_transcr_reg_TetR-rel_C - no_errors EXOC3L2 HGNC ENSG00000130201 8 0 0 6 7 53.8462 NLRP2 0 genome.wustl.edu 37 19 55489171 55489171 + Missense_Mutation SNP G G A TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 19 55489171 55489171 G A SNP NLRP2 ENST00000448584 human ensembl 74_37 +1 known missense c.377 p.R126H 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP2 HGNC ENSG00000022556 36 0 0 16 5 23.8095 C2orf49 0 genome.wustl.edu 37 2 105959525 105959525 + Missense_Mutation SNP A A G TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 2 105959525 105959525 A G SNP C2orf49 ENST00000258457 human ensembl 74_37 +1 known missense c.487 p.K163E 0.997 NULL NULL - no_errors C2orf49 HGNC ENSG00000135974 46 0 0 31 4 11.4286 DHRS9 0 genome.wustl.edu 37 2 169938103 169938103 + Nonsense_Mutation SNP G G A TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 2 169938103 169938103 G A SNP DHRS9 ENST00000432060 human ensembl 74_37 +1 known nonsense c.192 p.W64* 0.003 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS9 HGNC ENSG00000073737 31 0 0 30 2 6.25 SPEG 0 genome.wustl.edu 37 2 220331910 220331910 + Missense_Mutation SNP C C T TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 2 220331910 220331910 C T SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.2896 p.R966W 1.000 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 83 0 0 50 17 25.3731 USP34 0 genome.wustl.edu 37 2 61415542 61415542 + Missense_Mutation SNP C C T TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 2 61415542 61415542 C T SNP USP34 ENST00000398571 human ensembl 74_37 -1 known missense c.10336 p.D3446N 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 40 0 0 35 2 5.40541 ACTR5 0 genome.wustl.edu 37 20 37400233 37400233 + Missense_Mutation SNP C C T TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 20 37400233 37400233 C T SNP ACTR5 ENST00000243903 human ensembl 74_37 +1 known missense c.1598 p.A533V 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR5 HGNC ENSG00000101442 41 0 0 32 2 5.88235 SLMO2 0 genome.wustl.edu 37 20 57613669 57613669 + Missense_Mutation SNP G G T TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 20 57613669 57613669 G T SNP SLMO2 ENST00000355937 human ensembl 74_37 -1 known missense c.53 p.T18K 0.891 pfam_PRELI/MSF1,pfscan_PRELI/MSF1 pfam_PRELI/MSF1,pfscan_PRELI/MSF1 - no_errors SLMO2 HGNC ENSG00000101166 58 0 0 47 12 20.339 KIAA0922 0 genome.wustl.edu 37 4 154514965 154514965 + Missense_Mutation SNP T T C TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 4 154514965 154514965 T C SNP KIAA0922 ENST00000409959 human ensembl 74_37 +1 known missense c.1937 p.M646T 0.988 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC ENSG00000121210 10 0 0 6 6 50 PURA 0 genome.wustl.edu 37 5 139494596 139494596 + Missense_Mutation SNP A A G TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 5 139494596 139494596 A G SNP PURA ENST00000331327 human ensembl 74_37 +1 known missense c.830 p.E277G 1.000 pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd - no_errors PURA HGNC ENSG00000185129 34 0 0 27 3 10 AKAP12 0 genome.wustl.edu 37 6 151671966 151671966 + Nonsense_Mutation SNP C C T TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 6 151671966 151671966 C T SNP AKAP12 ENST00000253332 human ensembl 74_37 +1 known nonsense c.2440 p.R814* 0.997 pfam_Pkinase-A_anch_WSK-motif pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 82 0 0 53 6 10.1695 TNXB 0 genome.wustl.edu 37 6 32010126 32010126 + Missense_Mutation SNP C C T TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 6 32010126 32010126 C T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.12218 p.R4073H 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 12 0 0 10 4 28.5714 TYW1B 0 genome.wustl.edu 37 7 72081809 72081809 + Missense_Mutation SNP T T C TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 7 72081809 72081809 T C SNP TYW1B ENST00000343721 human ensembl 74_37 -1 known missense c.511 p.R171G 1.000 pfam_tRNA_wybutosine-synth pfam_rSAM,pfam_tRNA_wybutosine-synth - no_errors TYW1B HGNC ENSG00000254184 34 0 0 28 4 12.5 ABCB4 0 genome.wustl.edu 37 7 87031414 87031414 + Nonstop_Mutation SNP A A G TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 7 87031414 87031414 A G SNP ABCB4 ENST00000265723 human ensembl 74_37 -1 known nonstop c.3859 p.*1287R 0.829 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB4 HGNC ENSG00000005471 43 0 0 24 9 27.2727 ZNF804B 0 genome.wustl.edu 37 7 88966144 88966144 + Missense_Mutation SNP T T G TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 7 88966144 88966144 T G SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.3848 p.L1283R 0.988 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 103 0 0 77 15 16.3043 CSMD1 0 genome.wustl.edu 37 8 3256967 3256967 + Missense_Mutation SNP C C A TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 8 3256967 3256967 C A SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.2354 p.C785F 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 30 0 0 22 5 18.5185 PTPLAD2 0 genome.wustl.edu 37 9 21007086 21007086 + Nonsense_Mutation SNP C C A TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 9 21007086 21007086 C A SNP PTPLAD2 ENST00000495827 human ensembl 74_37 -1 known nonsense c.649 p.E217* 1.000 pfam_Tyr_Pase-like_PTPLA pfam_Tyr_Pase-like_PTPLA - no_errors PTPLAD2 HGNC ENSG00000188921 28 0 0 21 2 8.69565 ATP7A 0 genome.wustl.edu 37 X 77298826 77298826 + Silent SNP G G A TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 X 77298826 77298826 G A SNP ATP7A ENST00000341514 human ensembl 74_37 +1 known silent c.4017 p.L1339 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,prints_HG_scavenger,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC ENSG00000165240 15 0 0 8 8 50 CEP55 0 genome.wustl.edu 37 10 95276744 95276744 + Frame_Shift_Del DEL A A - TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 10 95276744 95276744 A - DEL CEP55 ENST00000371485 human ensembl 74_37 +1 known frame_shift_del c.732 p.D247fs 0.967 NULL pfam_EABR - no_errors CEP55 HGNC ENSG00000138180 36 0 0 23 2 8 SLC24A1 0 genome.wustl.edu 37 15 65918177 65918179 + In_Frame_Del DEL CTG CTG - TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 15 65918177 65918179 CTG - DEL SLC24A1 ENST00000261892 human ensembl 74_37 +1 known in_frame_del c.1759_1761 p.L590in_frame_del 1.000:1.000:1.000 pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A1 HGNC ENSG00000074621 54 0 0 24 5 17.2414 DSTN 0 genome.wustl.edu 37 20 17581680 17581680 + Frame_Shift_Del DEL T T - TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 20 17581680 17581680 T - DEL DSTN ENST00000246069 human ensembl 74_37 +1 known frame_shift_del c.301 p.L103fs 1.000 pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin - no_errors DSTN HGNC ENSG00000125868 31 0 0 19 2 9.52381 SYCP2 0 genome.wustl.edu 37 20 58467047 58467047 + Frame_Shift_Del DEL T T - TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 20 58467047 58467047 T - DEL SYCP2 ENST00000357552 human ensembl 74_37 -1 known frame_shift_del c.2362 p.M788fs 0.029 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 17 0 0 14 3 17.6471 NDFIP1 0 genome.wustl.edu 37 5 141511526 141511526 + RNA DEL A A - TCGA-BR-8291-01A-11D-2340-08 TCGA-BR-8291-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8dddc2ef-25b3-4061-beb5-7a74560c354d 4ebd9f1e-b33c-40e7-a3ec-a898797b88b0 5 141511526 141511526 A - DEL NDFIP1 ENST00000509436 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NDFIP1 HGNC ENSG00000131507 10 0 0 12 4 25