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 Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut NOP9 161424 broad.mit.edu 37 14 24774190 24774190 + Silent SNP G G T TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr14:24774190G>T ENST00000267425.3 + 10 1893 c.1800G>T c.(1798-1800)gtG>gtT p.V600V NOP9_ENST00000396802.3_3'UTR NM_174913.1 NP_777573.1 NOP9 nucleolar protein GCCACCATGTGGCTCGAAATG 0.552000 29 60 1.36615e-20 1.54434e-20 1 1 0 CPSF3 51692 broad.mit.edu 37 2 9570993 9570993 + Missense_Mutation SNP G G A TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr2:9570993G>A ENST00000460593.1 + 4 1352 c.214G>A c.(214-216)Gat>Aat p.D72N CPSF3_ENST00000238112.3_Missense_Mutation_p.D109N Q9UKF6 CPSF3_HUMAN cleavage and polyadenylation specific factor 3, 73kDa 109 histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex 5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308) all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644) GCTTCTTTCTGATTATGTCAA 0.348000 20 46 0 0 1 0 0 ZPBP 11055 broad.mit.edu 37 7 50057890 50057890 + Silent SNP T T C TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr7:50057890T>C ENST00000046087.2 - 6 798 c.729A>G c.(727-729)aaA>aaG p.K243K ZPBP_ENST00000419417.1_Silent_p.K242K|ZPBP_ENST00000491129.1_Intron NM_001159878.1|NM_007009.2 NP_001153350.1|NP_008940.2 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein 243 binding of sperm to zona pellucida extracellular region NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3) 29 Glioma(55;0.08)|all_neural(89;0.245) GCTTGGGTCCTTTTTCAGTGT 0.294000 3 55 0 0 1 0 0 DCP1A 55802 broad.mit.edu 37 3 53381536 53381536 + Silent SNP C C A TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr3:53381536C>A ENST00000607628.1 - 1 118 c.9G>T c.(7-9)gcG>gcT p.A3A DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000606822.1_Silent_p.A3A|DCP1A_ENST00000294241.6_Silent_p.A3A NM_018403.5 NP_060873.4 Q9NPI6 DCP1A_HUMAN decapping mRNA 1A 3 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic mRNA processing body|cytosol|nucleus hydrolase activity|protein binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647) CTCGACTCAGCGCCTCCATCT 0.617000 4 109 0.000602214 0.000602214 1 1 0 RBM47 54502 broad.mit.edu 37 4 40440487 40440487 + Missense_Mutation SNP G G A TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr4:40440487G>A ENST00000319592.4 - 4 1133 c.424C>T c.(424-426)Ctc>Ttc p.L142F RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.L142F|RBM47_ENST00000381793.2_Missense_Mutation_p.L142F|RBM47_ENST00000514014.1_Missense_Mutation_p.L104F|RBM47_ENST00000295971.7_Missense_Mutation_p.L142F A0AV96 RBM47_HUMAN RNA binding motif protein 47 142 RRM 1. nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 CACACGCCGAGCAGGCGGCCC 0.622000 3 63 0 0 1 0 0 CHST2 9435 broad.mit.edu 37 3 142841171 142841171 + Missense_Mutation SNP G G A TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr3:142841171G>A ENST00000309575.3 + 2 2897 c.1513G>A c.(1513-1515)Gtc>Atc p.V505I NM_004267.4 NP_004258.2 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 505 inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2) 22 GCCCATGGCCGTCCTGGGCTA 0.607000 4 93 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10714607 10714607 + Missense_Mutation SNP C C T TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr1:10714607C>T ENST00000377022.3 - 10 2024 c.1707G>A c.(1705-1707)atG>atA p.M569I CASZ1_ENST00000344008.5_Missense_Mutation_p.M569I NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 569 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) TCTCGTGGGTCATCACGTCAG 0.597000 6 286 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.527000 T MLL ALL 3 13 0 0 1 0 0 GOT1L1 137362 broad.mit.edu 37 8 37795175 37795175 + Silent SNP G G A TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr8:37795175G>A ENST00000307599.4 - 3 489 c.390C>T c.(388-390)taC>taT p.Y130Y NM_152413.2 NP_689626.2 Q8NHS2 AATC2_HUMAN glutamic-oxaloacetic transaminase 1-like 1 130 biosynthetic process|cellular amino acid metabolic process cytoplasm pyridoxal phosphate binding|transaminase activity central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1) 14 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;1.37e-11) AAGAGATGATGTAAACTATAC 0.498000 10 14 0 0 1 0 0 PGM5 5239 broad.mit.edu 37 9 70999448 70999448 + Missense_Mutation SNP A A G TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr9:70999448A>G ENST00000396396.1 + 3 788 c.559A>G c.(559-561)Aaa>Gaa p.K187E PGM5_ENST00000396392.1_Missense_Mutation_p.K187E|PGM5_ENST00000604870.2_3'UTR NM_021965.3 NP_068800.2 Q15124 PGM5_HUMAN phosphoglucomutase 5 187 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 34 AAACAAATTCAAACCATTCAG 0.378000 27 49 0 0 1 0 0 RAPGEF6 51735 broad.mit.edu 37 5 130769300 130769300 + Missense_Mutation SNP T T A TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr5:130769300T>A ENST00000509018.1 - 25 4002 c.3797A>T c.(3796-3798)cAt>cTt p.H1266L RAPGEF6_ENST00000507093.1_Missense_Mutation_p.H1274L|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.H1274L|FNIP1_ENST00000514667.1_Missense_Mutation_p.H1316L|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.H1279L NM_001164386.1|NM_016340.5 NP_001157858.1|NP_057424.3 Q8TEU7 RPGF6_HUMAN Rap guanine nucleotide exchange factor (GEF) 6 1266 Ser-rich. Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) AATCTCACTATGGCTGGAGTC 0.448000 32 62 0 0 1 0 0 RRN3P3 0 broad.mit.edu 37 16 22448704 22448704 + RNA SNP G G A TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr16:22448704G>A ENST00000551766.1 - 0 332 NR_027460.1 GCTTGGCCATGTCGTGTCGGG 0.716000 4 9 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 73012793 73012793 + Missense_Mutation SNP G G A TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr12:73012793G>A ENST00000261180.4 + 13 2405 c.2309G>A c.(2308-2310)cGc>cAc p.R770H NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 770 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 TTACTGGACCGCATGGAAAAC 0.333000 3 68 0 0 1 0 0 MUC13 56667 broad.mit.edu 37 3 124629312 124629312 + Silent SNP G G T TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr3:124629312G>T ENST00000311075.3 - 10 1322 c.1284C>A c.(1282-1284)atC>atA p.I428I NM_033049.3 NP_149038.3 Q9H3R2 MUC13_HUMAN mucin 13, cell surface associated 428 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1) 18 CAATGCCAGCGATGGTGCCCA 0.403000 22 103 2.47511e-08 2.68137e-08 1 1 0 BCL11A 53335 broad.mit.edu 37 2 60688216 60688216 + Missense_Mutation SNP C C T TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr2:60688216C>T ENST00000335712.6 - 4 2058 c.1831G>A c.(1831-1833)Gag>Aag p.E611K BCL11A_ENST00000358510.4_Missense_Mutation_p.E577K|BCL11A_ENST00000356842.4_Missense_Mutation_p.E611K|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Missense_Mutation_p.E577K|BCL11A_ENST00000537768.1_Missense_Mutation_p.E280K|BCL11A_ENST00000477659.1_5'UTR NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 611 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) GAGGCCGACTCGCCCGGGGAG 0.662000 T IGH@ B-CLL 16 29 0 0 1 0 0 BMP2K 55589 broad.mit.edu 37 4 79792085 79792085 + Missense_Mutation SNP G G C rs71828885 TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr4:79792085G>C ENST00000335016.5 + 11 1546 c.1380G>C c.(1378-1380)caG>caC p.Q460H BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 460 Gln/His-rich. nucleus ATP binding|protein serine/threonine kinase activity p.Q460H(3) NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 ATCCTCACcagcagcagcagc 0.577000 3 67 0 0 1 0 0 TRIM36 55521 broad.mit.edu 37 5 114482788 114482788 + Missense_Mutation SNP G G T TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr5:114482788G>T ENST00000513154.1 - 3 892 c.566C>A c.(565-567)cCa>cAa p.P189Q TRIM36_ENST00000282369.3_Missense_Mutation_p.P201Q|TRIM36_ENST00000514154.1_Missense_Mutation_p.P46Q|TRIM36_ENST00000515104.1_5'UTR Q9NQ86 TRI36_HUMAN tripartite motif containing 36 201 acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 37 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) GTTAGTAGTTGGACCAACATA 0.328000 15 29 3.27435e-08 3.40533e-08 1 1 0 MAP3K9 4293 broad.mit.edu 37 14 71275776 71275776 + Missense_Mutation SNP T T G rs72247386 TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr14:71275776T>G ENST00000554752.2 - 1 112 c.113A>C c.(112-114)gAg>gCg p.E38A MAP3K9_ENST00000555993.2_Missense_Mutation_p.E38A|MAP3K9_ENST00000381250.4_Missense_Mutation_p.E38A P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 38 Ala-rich.|Poly-Glu. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity p.E38delE(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) CGCCGCCGcctcctcctcctc 0.776000 2 3 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123556255 123556255 + Silent SNP G G C TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chrX:123556255G>C ENST00000422452.2 - 24 4401 c.4338C>G c.(4336-4338)ctC>ctG p.L1446L STAG2_ENST00000469481.1_3'UTR|TENM1_ENST00000371130.3_Silent_p.L1439L NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CAGCTATGAAGAGCAGCCCGC 0.537000 6 209 0 0 1 0 0 TRIM46 80128 broad.mit.edu 37 1 155147749 155147749 + Splice_Site SNP G G A TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr1:155147749G>A ENST00000468878.1 + 2 302 c.e2+1 TRIM46_ENST00000545012.1_Intron|TRIM46_ENST00000543729.1_Intron|TRIM46_ENST00000334634.4_Intron|TRIM46_ENST00000368382.1_Intron|TRIM46_ENST00000392451.2_Intron|TRIM46_ENST00000368383.3_Intron|TRIM46_ENST00000368385.4_Intron NR_046327.1|NR_046329.1 Q7Z4K8 TRI46_HUMAN tripartite motif containing 46 intracellular zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 29 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) AAAGCTGCAGGTAGCTTGTCT 0.582000 3 47 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107812034 107812034 + Missense_Mutation SNP G G A rs104886046 TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chrX:107812034G>A ENST00000328300.6 + 6 611 c.367G>A c.(367-369)Gga>Aga p.G123R COL4A5_ENST00000361603.2_Missense_Mutation_p.G123R NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 123 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 AGGTATTCCCGGATGCAATGG 0.383000 Alport syndrome with Diffuse Leiomyomatosis 55 104 0 0 1 0 0 AC007246.3 0 broad.mit.edu 37 2 39791858 39791860 + RNA DEL TGC TGC - TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr2:39791858_39791860delTGC ENST00000449569.1 + 0 538 AC007246.3_ENST00000422128.1_RNA|AC007246.3_ENST00000451547.1_RNA|AC007246.3_ENST00000415640.1_RNA|AC007246.3_ENST00000438649.1_RNA|AC007246.3_ENST00000425775.1_RNA|AC007246.3_ENST00000426083.1_RNA|AC007246.3_ENST00000446698.1_RNA NR_037875.1 tatagaagggtgctgctgctgct 0.601 4 3 --- --- --- --- SFRP1 6422 broad.mit.edu 37 8 41166638 41166640 + In_Frame_Del DEL GCT GCT - rs3055861 TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr8:41166638_41166640delGCT ENST00000220772.3 - 1 376_378 c.39_41delAGC c.(37-42)gcc>gc p.AA13del NM_003012.4 NP_003003.3 Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 13 brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1) 7 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) CACGCCCAGGGCTGCCCCGCGGC 0.764 5 1 --- --- --- --- HPN-AS1 0 broad.mit.edu 37 19 35596483 35596500 + RNA DEL CACCATCACCATCATCAT CACCATCACCATCATCAT - rs143642353 TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr19:35596483_35596500delCACCATCACCATCATCAT ENST00000392227.2 - 0 76 NR_024562.1 tcaccatcaccaccatcaccatcatcatcaccaccacc 0.477 6 4 --- --- --- --- AC005220.3 0 broad.mit.edu 37 20 52557949 52557950 + RNA INS - - TT rs72548465 by1000genomes TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr20:52557949_52557950insTT ENST00000450473.1 + 0 550 gtgtgtgtgtgtgtgtgtgcgc 0.500 5 2 --- --- --- ---