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 ZNF83 55769 broad.mit.edu 37 19 53116804 53116804 + Silent SNP G G A TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr19:53116804G>A ENST00000597597.1 - 2 3267 c.1014C>T c.(1012-1014)atC>atT p.I338I ZNF83_ENST00000544146.1_Silent_p.I338I|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000545872.1_Silent_p.I338I|ZNF83_ENST00000541777.2_Silent_p.I338I|ZNF83_ENST00000536937.1_Silent_p.I338I|ZNF83_ENST00000391789.4_Silent_p.I310I|ZNF83_ENST00000301096.3_Silent_p.I338I|ZNF83_ENST00000601257.1_Intron P51522 ZNF83_HUMAN zinc finger protein 83 338 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.I338I(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) CTCCAGTGTGGATTCTCCAGT 0.413000 4 157 0 0 1 0 0 LINC00202-1 0 broad.mit.edu 37 10 27223346 27223346 + RNA SNP G G C rs138092914 by1000genomes TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr10:27223346G>C ENST00000431296.1 - 0 3258 NR_026795.1 TTTTACCTTCGATGTTTCAGC 0.483000 3 37 0 0 1 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240908 39240908 + Silent SNP T T C TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr17:39240908T>C ENST00000391417.4 + 1 450 c.450T>C c.(448-450)tgT>tgC p.C150C NM_033061.3 NP_149050.3 keratin associated protein 4-7 p.C150C(1) NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 CCTTGTGCTGTGCCTCCTCTT 0.607000 3 11 0 0 1 0 0 RAPGEF5 9771 broad.mit.edu 37 7 22349655 22349655 + Silent SNP G G A TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr7:22349655G>A ENST00000405243.1 - 4 527 c.444C>T c.(442-444)ttC>ttT p.F148F RAPGEF5_ENST00000344041.6_5'UTR Q92565 RPGF5_HUMAN Rap guanine nucleotide exchange factor (GEF) 5 0 N-terminal Ras-GEF. nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1) 6 TGCACTGGACGAAAGGACAGT 0.463000 3 44 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7531609 7531609 + Missense_Mutation SNP C C A TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr12:7531609C>A ENST00000313599.3 - 9 2393 c.2336G>T c.(2335-2337)tGt>tTt p.C779F CD163L1_ENST00000396630.1_Missense_Mutation_p.C779F|CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000416109.2_Missense_Mutation_p.C789F Q9NR16 C163B_HUMAN CD163 molecule-like 1 779 SRCR 7. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 ATTTAAATGACACGCAGTCTG 0.368000 3 72 1 1 1 1 0 FAM181A 90050 broad.mit.edu 37 14 94395229 94395229 + Missense_Mutation SNP C C G TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr14:94395229C>G ENST00000267594.5 + 3 1091 c.784C>G c.(784-786)Cct>Gct p.P262A FAM181A_ENST00000556222.1_Missense_Mutation_p.P200A|FAM181A_ENST00000557719.1_Missense_Mutation_p.P200A|FAM181A_ENST00000557000.2_Missense_Mutation_p.P200A NM_001207073.1|NM_001207074.1|NM_138344.4 NP_001194002.1|NP_001194003.1|NP_612353.3 Q8N9Y4 F181A_HUMAN family with sequence similarity 181, member A 262 cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2) 18 GCTCAAGATGCCTGGGGTCTC 0.617000 2 13 0 0 1 0 0 H2AFJ 55766 broad.mit.edu 37 12 14927441 14927441 + Missense_Mutation SNP G G A TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr12:14927441G>A ENST00000544848.1 + 1 172 c.37G>A c.(37-39)Gca>Aca p.A13T NM_177925.2 NP_808760.1 Q9BTM1 H2AJ_HUMAN H2A histone family, member J 13 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1) 5 CAAAGTGCGAGCAAAGGCCAA 0.652000 3 49 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 3 70 0 0 1 0 0 GALNT15 117248 broad.mit.edu 37 3 16261011 16261011 + Silent SNP A A G TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr3:16261011A>G ENST00000339732.5 + 7 1997 c.1494A>G c.(1492-1494)ccA>ccG p.P498P GALNT15_ENST00000437509.1_Silent_p.P498P NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 AGCTGTACCCATCTGAACCCA 0.537000 37 254 0 0 1 0 0 PCDHA5 0 broad.mit.edu 37 5 140203081 140203081 + Missense_Mutation SNP G G T TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr5:140203081G>T ENST00000529859.1 + 1 1721 c.1721G>T c.(1720-1722)gGc>gTc p.G574V PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.G574V|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.G574V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCACCGGCGGCGCAGTGAGC 0.687000 5 65 1.23904e-05 1.36612e-05 1 1 0 GPC5 2262 broad.mit.edu 37 13 92101095 92101095 + Missense_Mutation SNP C C A TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr13:92101095C>A ENST00000377067.3 + 2 616 c.244C>A c.(244-246)Cgc>Agc p.R82S NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 82 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) GATTGCGGCTCGCCAGGATAT 0.428000 3 80 1 1 1 1 0 LINC00202-1 0 broad.mit.edu 37 10 27223418 27223418 + RNA SNP T T C TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr10:27223418T>C ENST00000431296.1 - 0 3186 NR_026795.1 CATCTGTCCATTGGGCTTGGT 0.438000 3 73 0 0 1 0 0 ALKBH4 54784 broad.mit.edu 37 7 102098332 102098332 + Missense_Mutation SNP C C T TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr7:102098332C>T ENST00000292566.3 - 3 457 c.418G>A c.(418-420)Ggc>Agc p.G140S NM_017621.3 NP_060091.1 Q9NXW9 ALKB4_HUMAN alkB, alkylation repair homolog 4 (E. coli) 140 cytoplasm|nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(1)|lung(5)|skin(2) 8 GGGTAGAGGCCCATCCTCCGC 0.652000 6 36 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21606544 21606544 + Silent SNP C C T TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr19:21606544C>T ENST00000392288.2 + 4 1192 c.1083C>T c.(1081-1083)tcC>tcT p.S361S CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.S233S NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 ATAAGGAGTCCTCACACCTTA 0.358000 3 74 0 0 1 0 0 ZNF460 10794 broad.mit.edu 37 19 57803368 57803368 + Missense_Mutation SNP C C T TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr19:57803368C>T ENST00000360338.3 + 3 1781 c.1459C>T c.(1459-1461)Cgc>Tgc p.R487C ZNF460_ENST00000537645.1_Missense_Mutation_p.R446C NM_006635.3 NP_006626.3 Q14592 ZN460_HUMAN zinc finger protein 460 487 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGCCTTCAACCGCAGGTCACC 0.537000 20 76 0 0 1 0 0 TAGLN2 8407 broad.mit.edu 37 1 159889625 159889625 + Splice_Site SNP C C T TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr1:159889625C>T ENST00000368097.4 - 3 491 c.180_splice c.e3-1 p.V61_splice TAGLN2_ENST00000320307.4_Splice_Site_p.V61_splice|TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000368096.1_Splice_Site_p.V82_splice NM_001277223.1|NM_003564.1 NP_001264152.1|NP_003555.1 P37802 TAGL2_HUMAN transgelin 2 61 CH. muscle organ development nuclear membrane|plasma membrane protein binding endometrium(1)|large_intestine(2)|lung(6) 9 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.111) TCACATAGCACCTGGATGAGG 0.552000 29 112 0 0 1 0 0 ZNF599 148103 broad.mit.edu 37 19 35251088 35251088 + Missense_Mutation SNP T T G TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr19:35251088T>G ENST00000329285.7 - 4 991 c.618A>C c.(616-618)aaA>aaC p.K206N NM_001007248.2 NP_001007249.1 Q96NL3 ZN599_HUMAN zinc finger protein 599 206 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1) 24 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) TGCTAAACCCTTTCCCACATT 0.493000 6 146 0 0 1 0 0 EEA1 8411 broad.mit.edu 37 12 93247720 93247720 + Missense_Mutation SNP G G T TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr12:93247720G>T ENST00000322349.8 - 6 641 c.377C>A c.(376-378)cCt>cAt p.P126H NM_003566.3 NP_003557.2 Q15075 EEA1_HUMAN early endosome antigen 1 126 early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 36 CAACCCATCAGGTTTGGCCTC 0.294000 3 29 1 1 1 1 0 MUC16 94025 broad.mit.edu 37 19 9048764 9048764 + Missense_Mutation SNP A A G TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr19:9048764A>G ENST00000397910.4 - 5 33070 c.32867T>C c.(32866-32868)cTt>cCt p.L10956P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10958 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGTTCACCAAGAGAAAAAGT 0.498000 3 120 0 0 1 0 0 OR13D1 286365 broad.mit.edu 37 9 107456834 107456834 + Missense_Mutation SNP C C G TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr9:107456834C>G ENST00000318763.5 + 1 175 c.132C>G c.(130-132)ttC>ttG p.F44L NM_001004484.1 NP_001004484.1 Q8NGV5 O13D1_HUMAN olfactory receptor, family 13, subfamily D, member 1 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2) 19 TGACTGAATTCTTTCTGGTGG 0.443000 10 39 0 0 1 0 0 SCML2 10389 broad.mit.edu 37 X 18275111 18275111 + Missense_Mutation SNP G G A TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chrX:18275111G>A ENST00000251900.4 - 11 1472 c.1313C>T c.(1312-1314)cCa>cTa p.P438L SCML2_ENST00000398048.3_Missense_Mutation_p.P174L NM_006089.2 NP_006080.1 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 (Drosophila) 438 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36 Hepatocellular(33;0.183) ACTGTTCACTGGAGGGAGCTG 0.443000 3 71 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27475706 27475706 + Missense_Mutation SNP C C A TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr16:27475706C>A ENST00000356183.4 - 34 5822 c.5807G>T c.(5806-5808)aGt>aTt p.S1936I GTF3C1_ENST00000561623.1_Intron NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1936 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 GCCTGGGGAACTGAACTCACC 0.667000 15 89 3.51602e-12 3.97865e-12 1 1 0 GABRB1 2560 broad.mit.edu 37 4 47408857 47408857 + Missense_Mutation SNP T T A TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr4:47408857T>A ENST00000295454.3 + 8 1286 c.994T>A c.(994-996)Ttt>Att p.F332I GABRB1_ENST00000538619.1_Missense_Mutation_p.F262I NM_000812.3 NP_000803.2 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 1 332 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TTACATCTTCTTTGGGAAAGG 0.393000 3 29 0 0 1 0 0 PRSS12 8492 broad.mit.edu 37 4 119216935 119216935 + Missense_Mutation SNP T T A TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr4:119216935T>A ENST00000296498.3 - 10 2196 c.1914A>T c.(1912-1914)ttA>ttT p.L638F PRSS12_ENST00000510903.1_5'UTR NM_003619.3 NP_003610.2 P56730 NETR_HUMAN protease, serine, 12 (neurotrypsin, motopsin) 638 Peptidase S1. membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 29 ACATTTACCTTAAAGAATTTT 0.363000 5 82 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86284686 86284686 + Missense_Mutation SNP A A G TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr15:86284686A>G ENST00000394518.2 + 35 8113 c.8018A>G c.(8017-8019)gAg>gGg p.E2673G AKAP13_ENST00000394510.2_Missense_Mutation_p.E918G|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.E2677G NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 2673 Interaction with ESR1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 CGGGAGGCAGAGCGGCTCAGC 0.572000 5 34 0 0 1 0 0 DIRC1 116093 broad.mit.edu 37 2 189599335 189599335 + Nonstop_Mutation SNP A A G TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr2:189599335A>G ENST00000308100.4 - 2 583 c.313T>C c.(313-315)Taa>Caa p.*105Q AC079613.1_ENST00000431708.1_RNA NM_052952.2 NP_443184.1 Q969H9 DIRC1_HUMAN disrupted in renal carcinoma 1 0 large_intestine(1)|lung(6) 7 OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102) CATTGTAATTAGGTAAGGCTT 0.373000 4 118 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910607 29910607 + Silent SNP G G C rs72555397 TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr6:29910607G>C ENST00000396634.1 + 4 488 c.147G>C c.(145-147)gtG>gtC p.V49V HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V P30443 1A01_HUMAN major histocompatibility complex, class I, A 49 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.V49V(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TCATCGCCGTGGGCTACGTGG 0.692000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 4 36 0 0 1 0 0 PCDHGA4 0 broad.mit.edu 37 5 140735010 140735010 + Silent SNP C C T TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr5:140735010C>T ENST00000571252.1 + 1 243 c.243C>T c.(241-243)agC>agT p.S81S PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCCGCGCAGCGGCACCTTGG 0.612000 3 63 0 0 1 0 0 TMCC2 9911 broad.mit.edu 37 1 205240957 205240957 + Missense_Mutation SNP G G T TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr1:205240957G>T ENST00000358024.3 + 5 2224 c.1835G>T c.(1834-1836)tGc>tTc p.C612F TMCC2_ENST00000545499.1_Missense_Mutation_p.C534F|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Missense_Mutation_p.C387F|TMCC2_ENST00000329800.7_Missense_Mutation_p.C372F NM_014858.3 NP_055673.2 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 612 integral to membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1) 20 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) GTGGAGTCCTGCCTGACCCGG 0.657000 3 69 1 1 1 1 0 FRS3 10817 broad.mit.edu 37 6 41738719 41738719 + Missense_Mutation SNP G G A TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr6:41738719G>A ENST00000373018.3 - 7 1368 c.1117C>T c.(1117-1119)Ccc>Tcc p.P373S FRS3_ENST00000259748.2_Missense_Mutation_p.P373S NM_006653.3 NP_006644.1 O43559 FRS3_HUMAN fibroblast growth factor receptor substrate 3 373 fibroblast growth factor receptor signaling pathway plasma membrane fibroblast growth factor receptor binding|insulin receptor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GTGCTGGTGGGCTTCTGCAGT 0.662000 5 107 0 0 1 0 0 OR52E2 119678 broad.mit.edu 37 11 5080421 5080421 + Missense_Mutation SNP A A T TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr11:5080421A>T ENST00000321522.2 - 1 436 c.437T>A c.(436-438)aTt>aAt p.I146N NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 146 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) ACCAAGACCAATCACAGAAAC 0.463000 4 25 0 0 1 0 0 ASCC2 84164 broad.mit.edu 37 22 30221102 30221102 + Missense_Mutation SNP G G A TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr22:30221102G>A ENST00000397771.2 - 5 562 c.385C>T c.(385-387)Cgc>Tgc p.R129C ASCC2_ENST00000307790.3_Missense_Mutation_p.R129C|ASCC2_ENST00000542393.1_Missense_Mutation_p.R76C Q9H1I8 ASCC2_HUMAN activating signal cointegrator 1 complex subunit 2 129 regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) GTGGACATGCGGAGGAAGGTG 0.572000 4 118 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 5 118 0 0 1 0 0 NUP214 8021 broad.mit.edu 37 9 134026129 134026129 + Missense_Mutation SNP T T G TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr9:134026129T>G ENST00000359428.5 + 16 2398 c.2254T>G c.(2254-2256)Ttg>Gtg p.L752V RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.L742V|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.L753V|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA P35658 NU214_HUMAN nucleoporin 214kDa 752 11 X 5 AA approximate repeats.|Leucine-zipper 1. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) TACCTTTCTTTTGGAGATTAA 0.403000 T """DEK, SET, ABL1""" """AML, T-ALL""" 5 149 0 0 1 0 0 IGSF9 57549 broad.mit.edu 37 1 159899709 159899709 + Frame_Shift_Del DEL G G - TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr1:159899709delG ENST00000368094.1 - 16 2318 c.2121delC c.(2119-2121)ccfs p.P707fs IGSF9_ENST00000361509.3_Frame_Shift_Del_p.P691fs|IGSF9_ENST00000493195.1_5'UTR NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 707 Fibronectin type-III 2. cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) CCGTGTTGCTGGGGTCGCTGA 0.672 2 4 --- --- --- --- FMN2 56776 broad.mit.edu 37 1 240255569 240255571 + In_Frame_Del DEL GGC GGC - rs71929261 TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr1:240255569_240255571delGGC ENST00000319653.9 + 1 390_392 c.160_162delGGC c.(160-162)del p.G59del NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 59 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.G197delG(1) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GGGGGGAgggggcggcggcggcg 0.665 12 6 --- --- --- --- AC019118.2 0 broad.mit.edu 37 2 2910768 2910769 + RNA INS - - T rs142585959 by1000genomes TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr2:2910768_2910769insT ENST00000457478.1 - 0 594 tccaccccctctcccCAGCCCA 0.698 6 13 --- --- --- --- NCKIPSD 51517 broad.mit.edu 37 3 48720447 48720448 + Splice_Site INS - - G TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr3:48720447_48720448insG ENST00000294129.2 - 2 291 c.e2-2 NCKIPSD_ENST00000341520.4_Splice_Site|NCKIPSD_ENST00000416649.2_Splice_Site NM_016453.2 NP_057537.1 Q9NZQ3 SPN90_HUMAN NCK interacting protein with SH3 domain cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction intermediate filament|nucleus cytoskeletal protein binding|SH3 domain binding p.?(1) endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CTCCAGGCCCTGGGGGGGGCAG 0.619 2 4 --- --- --- --- FIP1L1 81608 broad.mit.edu 37 4 54325595 54325596 + Frame_Shift_Ins INS - - G TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr4:54325595_54325596insG ENST00000337488.6 + 18 1958_1959 c.1764_1765insG c.(1762-1767)acaagcfs p.S589fs FIP1L1_ENST00000306932.6_Frame_Shift_Ins_p.S515fs|FIP1L1_ENST00000358575.5_Frame_Shift_Ins_p.S583fs|FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000306888.2_3'UTR NM_030917.3 NP_112179.2 Q6UN15 FIP1_HUMAN factor interacting with PAPOLA and CPSF1 589 Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3. mRNA processing nucleus RNA binding large_intestine(3)|liver(1)|ovary(1)|skin(1) 6 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) AGGAGAGCACCGAAGCTACACC 0.401 T PDGFRA idiopathic hypereosinophilic syndrome 21 162 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64528813 64528814 + RNA INS - - T TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr7:64528813_64528814insT ENST00000426828.1 + 0 621 NR_033416.1 CTTTCTGTAACTTTTTTTTTTT 0.317 2 4 --- --- --- --- NUTM2F 54754 broad.mit.edu 37 9 97080945 97080947 + In_Frame_Del DEL AGA AGA - TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr9:97080945_97080947delAGA ENST00000253262.4 - 7 2091_2093 c.2071_2073delTCT c.(2071-2073)del p.S691del NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del|NUTM2F_ENST00000335456.7_Intron NM_017561.1 NP_060031.1 NUT family member 2F p.S557delS(1) TGCTGGCAGGAGAAGGTGATGGG 0.611 4 8 --- --- --- --- EPC1 80314 broad.mit.edu 37 10 32576086 32576086 + Frame_Shift_Del DEL G G - TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr10:32576086delG ENST00000319778.6 - 7 1394 c.1092delC c.(1090-1092)ttfs p.F364fs EPC1_ENST00000263062.8_Frame_Shift_Del_p.F364fs|EPC1_ENST00000375110.2_Frame_Shift_Del_p.F314fs NM_001272004.1|NM_001272019.1 NP_001258933.1|NP_001258948.1 Q9H2F5 EPC1_HUMAN enhancer of polycomb homolog 1 (Drosophila) 364 histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1) 24 Prostate(175;0.0199) CTTTAGCATTGAAGACTGGCA 0.463 11 128 --- --- --- --- MKI67 4288 broad.mit.edu 37 10 129902204 129902205 + Frame_Shift_Del DEL TG TG - TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr10:129902204_129902205delTG ENST00000368654.3 - 13 8274_8275 c.7899_7900delCA c.(7897-7902)caaafs p.HK2633fs MKI67_ENST00000368653.3_Frame_Shift_Del_p.HK2273fs NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2633 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GCTGGTTCTTTGTGTGTGTGTG 0.500 7 65 --- --- --- --- CASP5 838 broad.mit.edu 37 11 104879687 104879687 + Frame_Shift_Del DEL T T - TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr11:104879687delT ENST00000393141.2 - 2 98 c.67delA c.(67-69)ggfs p.R24fs CASP5_ENST00000531367.1_Intron|CASP5_ENST00000526056.1_Frame_Shift_Del_p.R24fs|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000393139.2_5'UTR|CASP5_ENST00000260315.3_Frame_Shift_Del_p.R11fs NM_001136112.1|NM_004347.3 NP_001129584.1|NP_004338.3 P51878 CASP5_HUMAN caspase 5, apoptosis-related cysteine peptidase 11 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) TTCTTACGCCTTTTTTTTTTG 0.388 8 38 --- --- --- --- MAP3K9 4293 broad.mit.edu 37 14 71275774 71275776 + In_Frame_Del DEL CCT CCT - rs3832971 TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr14:71275774_71275776delCCT ENST00000554752.2 - 1 112_114 c.113_115delAGG c.(112-117)gcg>g p.EA38del MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del 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) GCCGCCGCCGcctcctcctcctc 0.773 3 4 --- --- --- --- RRN3P2 0 broad.mit.edu 37 16 29118702 29118704 + RNA DEL AGC AGC - TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr16:29118702_29118704delAGC ENST00000564580.1 + 0 1448 CTB-134H23.3_ENST00000562618.1_RNA GCCAGGTCCAagcagcagcagca 0.660 4 6 --- --- --- --- EDC4 23644 broad.mit.edu 37 16 67913767 67913769 + In_Frame_Del DEL CAG CAG - TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr16:67913767_67913769delCAG ENST00000358933.5 + 16 2075_2077 c.1836_1838delCAG c.(1834-1839)ccc>cc p.PS612del NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 612 Ser-rich. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) CTGCCTCTCCcagcagcagcagc 0.611 7 68 --- --- --- --- CHD3 1107 broad.mit.edu 37 17 7788146 7788148 + In_Frame_Del DEL GAG GAG - TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr17:7788146_7788148delGAG ENST00000380358.4 + 1 23_25 c.22_24delGAG c.(22-24)del p.E14del LSMD1_ENST00000570555.1_Intron|LSMD1_ENST00000576861.1_Intron NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 429 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) TCTGAGggacgaggaggaggagg 0.700 2 4 --- --- --- --- CCDC144B 0 broad.mit.edu 37 17 18498497 18498498 + RNA INS - - A rs72195768 TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr17:18498497_18498498insA ENST00000442583.1 - 0 749 NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 36 CTGCAGGCCTGAAAAAAAAAAA 0.243 3 4 --- --- --- --- LRRC37A16P 0 broad.mit.edu 37 17 66137569 66137570 + RNA INS - - T TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr17:66137569_66137570insT ENST00000590019.1 - 0 151 GCTTATATTCATTTTTTGTTAT 0.292 5 1 --- --- --- --- MKL1 57591 broad.mit.edu 37 22 40816887 40816889 + In_Frame_Del DEL TGC TGC - TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr22:40816887_40816889delTGC ENST00000396617.3 - 10 1433_1435 c.843_845delGCA c.(841-846)cac>ca p.QH281del MKL1_ENST00000407029.1_In_Frame_Del_p.QH281del|MKL1_ENST00000402042.1_In_Frame_Del_p.QH231del|MKL1_ENST00000355630.3_In_Frame_Del_p.QH281del Q969V6 MKL1_HUMAN megakaryoblastic leukemia (translocation) 1 281 Gln-rich. positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 GTAGTTGTGGTGCTGCTGCTGCT 0.660 T RBM15 acute megakaryocytic leukemia 7 86 --- --- --- --- MAP3K15 389840 broad.mit.edu 37 X 19389184 19389185 + Splice_Site INS - - A TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chrX:19389184_19389185insA ENST00000338883.4 - 24 3294 c.e24-2 MAP3K15_ENST00000469203.2_Splice_Site|MAP3K15_ENST00000359173.3_Splice_Site|MAP3K15_ENST00000518578.1_Splice_Site NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) tttatttacctaaaaaaaaaaa 0.431 5 9 --- --- --- --- RP11-268G12.1 0 broad.mit.edu 37 X 27406108 27406110 + RNA DEL CCA CCA - TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chrX:27406108_27406110delCCA ENST00000422048.1 - 0 148 accaacactgccaccaccaccac 0.379 4 2 --- --- --- --- GPC3 2719 broad.mit.edu 37 X 133119384 133119386 + In_Frame_Del DEL CGG CGG - TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chrX:133119384_133119386delCGG ENST00000370818.3 - 1 536_538 c.91_93delCCG c.(91-93)del p.P31del GPC3_ENST00000543339.1_In_Frame_Del_p.P31del|GPC3_ENST00000394299.2_In_Frame_Del_p.P31del NM_001164618.1|NM_004484.3 NP_001158090.1|NP_004475.1 P51654 GPC3_HUMAN glypican 3 31 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2) 36 Acute lymphoblastic leukemia(192;0.000127) AGGTGGCGTCCGGCGGCGGCGGC 0.690 """T, D, Mis, N, F, S""" Wilms tumour Simpson-Golabi-Behmel syndrome 2 4 --- --- --- ---