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 ABCA3 21 broad.mit.edu 37 16 2358593 2358593 + Silent SNP G G A TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr16:2358593G>A uc002cpy.1 - 10 1855 c.1143C>T c.(1141-1143)ctC>ctT p.L381L ABCA3_uc010bsk.1_Intron|ABCA3_uc010bsl.1_Silent_p.L381L NM_001089 NP_001080 Q99758 ABCA3_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA. 381 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) TGAAGAAGTAGAGGAAGCCTC 0.602000 17 67 0 0 1 0 0 B3GNT5 84002 broad.mit.edu 37 3 182988119 182988119 + Nonsense_Mutation SNP G G A TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr3:182988119G>A uc003flk.3 + 1 1063 c.533G>A c.(532-534)tGg>tAg p.W178* MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.3_Nonsense_Mutation_p.W178*|B3GNT5_uc003flm.3_Nonsense_Mutation_p.W178*|B3GNT5_uc021xic.1_Nonsense_Mutation_p.W178* NM_032047 NP_114436 Q9BYG0 B3GN5_HUMAN Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 (B3GNT5), mRNA. 178 central nervous system development|glycolipid biosynthetic process|protein glycosylation Golgi membrane|integral to membrane beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 all_cancers(143;8.52e-13)|Ovarian(172;0.0355) all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) CAGTTCAGTTGGGCAAATACC 0.343000 32 95 0 0 1 0 0 ARSK 153642 broad.mit.edu 37 5 94918766 94918766 + Missense_Mutation SNP G G A TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr5:94918766G>A uc003kld.3 + 3 721 c.563G>A c.(562-564)aGa>aAa p.R188K ARSK_uc010jbg.3_Missense_Mutation_p.R29K|ARSK_uc011cum.2_Non-coding_Transcript NM_198150 NP_937793 Q6UWY0 ARSK_HUMAN Homo sapiens arylsulfatase family, member K (ARSK), mRNA. 188 extracellular region arylsulfatase activity|metal ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1) 16 all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473) all cancers(79;6.5e-16) AACTGGTTAAGAAAGGAAGCA 0.388000 24 64 0 0 1 0 0 SMARCC2 6601 broad.mit.edu 37 12 56571852 56571852 + Missense_Mutation SNP G G C TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr12:56571852G>C uc001skb.3 - 14 1442 c.1336C>G c.(1336-1338)Ctc>Gtc p.L446V SMARCC2_uc001skd.3_Missense_Mutation_p.L446V|SMARCC2_uc001ska.3_Missense_Mutation_p.L446V|SMARCC2_uc001skc.3_Missense_Mutation_p.L446V|SMARCC2_uc010sqf.2_Missense_Mutation_p.L335V NM_003075 NP_003066 Q8TAQ2 SMRC2_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA. 446 SWIRM. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) AACTCGGGGAGAGCCCTCCGC 0.512000 7 30 0 0 1 0 0 TMTC2 160335 broad.mit.edu 37 12 83289743 83289743 + Silent SNP C C T rs143764076 TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr12:83289743C>T uc001szt.3 + 2 1233 c.801C>T c.(799-801)ctC>ctT p.L267L TMTC2_uc001szr.1_Silent_p.L267L|TMTC2_uc001szs.1_Silent_p.L267L|TMTC2_uc010suk.2_Silent_p.L22L NM_152588 NP_689801 Q8N394 TMTC2_HUMAN Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA. 267 endoplasmic reticulum|integral to membrane binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 ACAGCCTCCTCACCCGCACTC 0.532000 35 160 0 0 1 0 0 ANKRD44 91526 broad.mit.edu 37 2 197975514 197975514 + Missense_Mutation SNP G G A TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr2:197975514G>A uc021vuj.1 - 8 1154 c.961C>T c.(961-963)Cgg>Tgg p.R321W ANKRD44_uc002utz.4_Missense_Mutation_p.R10W|ANKRD44_uc021vuk.1_Missense_Mutation_p.R296W|ANKRD44_uc002uub.3_Missense_Mutation_p.R321W|ANKRD44_uc010zgw.2_Missense_Mutation_p.R249W|ANKRD44_uc002uuc.3_Missense_Mutation_p.R321W NM_001195144 NP_001182073 Q8N8A2 ANR44_HUMAN Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA. 321 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) GTCTGTGACCGTGTGAACCTT 0.428000 5 210 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12656261 12656261 + Silent SNP G G A TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr17:12656261G>A uc002gno.2 + 9 1955 c.1656G>A c.(1654-1656)caG>caA p.Q552Q MYOCD_uc002gnn.2_Silent_p.Q552Q|MYOCD_uc002gnp.1_Silent_p.Q456Q|MYOCD_uc002gnq.2_Silent_p.Q271Q NM_001146312 NP_001139784 Q8IZQ8 MYCD_HUMAN Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA. 552 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) TTCAGAAGCAGAAAAGGAATA 0.522000 7 51 0 0 1 0 0 CNTRL 11064 broad.mit.edu 37 9 123927267 123927267 + Missense_Mutation SNP T T A TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr9:123927267T>A uc004bkx.1 + 32 5501 c.5470T>A c.(5470-5472)Tta>Ata p.L1824I CNTRL_uc004blb.1_Missense_Mutation_p.L493I|CNTRL_uc010mvp.1_5'UTR NM_007018 NP_008949 Q7Z7A1 CNTRL_HUMAN Homo sapiens centriolin (CNTRL), mRNA. 1824 G2/M transition of mitotic cell cycle|cell division centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 GCAATCAAACTTAGAAAAGTT 0.398000 4 76 0 0 1 0 0 FZD1 8321 broad.mit.edu 37 7 90894813 90894813 + Silent SNP C C A TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr7:90894813C>A uc003ula.3 + 0 1031 c.618C>A c.(616-618)ggC>ggA p.G206G NM_003505 NP_003496 Q9UP38 FZD1_HUMAN Homo sapiens frizzled family receptor 1 (FZD1), mRNA. 206 FZ. G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|receptor binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) ACAAGTTCGGCTTCCAGTGGC 0.701000 16 56 0 0 1 0 0 ITGB1 3688 broad.mit.edu 37 10 33200886 33200886 + Missense_Mutation SNP C C T TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr10:33200886C>T uc001iwr.4 - 10 1636 c.1636G>A c.(1636-1638)Gaa>Aaa p.E546K ITGB1_uc001iws.4_Missense_Mutation_p.E546K|ITGB1_uc001iwt.4_Missense_Mutation_p.E546K NM_033668 NP_391988 P05556 ITB1_HUMAN Homo sapiens integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) (ITGB1), transcript variant 1D, mRNA. 546 Cysteine-rich tandem repeats. axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Ovarian(717;1.34e-05)|Breast(68;0.0634) GAATAAATTTCATTTGTATTA 0.403000 21 106 0 0 1 0 0 ZNF236 7776 broad.mit.edu 37 18 74625777 74625777 + Missense_Mutation SNP A A G TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr18:74625777A>G uc002lmi.3 + 17 3176 c.2978A>G c.(2977-2979)aAg>aGg p.K993R ZNF236_uc002lmj.3_Non-coding_Transcript NM_007345 NP_031371 Q9UL36 ZN236_HUMAN Homo sapiens zinc finger protein 236 (ZNF236), mRNA. 993 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) ACCGGGGAAAAGCCCTACAAG 0.517000 3 111 0 0 1 0 0 EHD1 10938 broad.mit.edu 37 11 64622296 64622296 + Missense_Mutation SNP G G C TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr11:64622296G>C uc010rnq.1 - 5 1203 c.1156C>G c.(1156-1158)Cag>Gag p.Q386E EHD1_uc021qkz.1_Missense_Mutation_p.Q55E|EHD1_uc001obu.1_Missense_Mutation_p.Q372E|EHD1_uc001obv.1_Missense_Mutation_p.Q372E NM_006795 NP_006786 Q9H4M9 EHD1_HUMAN Homo sapiens EH-domain containing 1 (EHD1), mRNA. 372 blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane ATP binding|GTP binding|GTPase activity|calcium ion binding|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 12 TTCAGCGCCTGGAACTTGCTG 0.642000 57 209 0 0 1 0 0 GPC5 2262 broad.mit.edu 37 13 92345516 92345516 + Missense_Mutation SNP C C T TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr13:92345516C>T uc010tif.2 + 2 767 c.401C>T c.(400-402)gCc>gTc p.A134V NM_004466 NP_004457 P78333 GPC5_HUMAN Homo sapiens glypican 5 (GPC5), mRNA. 134 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) AGGAACATGGCCTTGGAGGCT 0.403000 20 84 0 0 1 0 0 TNFSF4 7292 broad.mit.edu 37 1 173155920 173155920 + Missense_Mutation SNP T T C TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr1:173155920T>C uc001giw.3 - 2 443 c.287A>G c.(286-288)aAc>aGc p.N96S TNFSF4_uc001giv.3_Missense_Mutation_p.N46S NM_003326 NP_003317 P23510 TNFL4_HUMAN Homo sapiens tumor necrosis factor (ligand) superfamily, member 4 (TNFSF4), mRNA. 96 T-helper 2 cell activation|acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of T-helper 1 cell differentiation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell activation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of alpha-beta T cell proliferation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction cell surface|extracellular space|integral to plasma membrane cytokine activity breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1) 12 CCCATCACAGTTGATGATGAC 0.458000 21 69 0 0 1 0 0 CSGALNACT2 55454 broad.mit.edu 37 10 43651086 43651086 + Silent SNP C C T TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr10:43651086C>T uc001jan.3 + 1 824 c.489C>T c.(487-489)ctC>ctT p.L163L CSGALNACT2_uc001jam.1_Silent_p.L163L NM_018590 NP_061060 Q8N6G5 CGAT2_HUMAN Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 2 (CSGALNACT2), mRNA. 163 chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding p.G162C(1) endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 AAATGGGTCTCACTCGCCATC 0.413000 14 65 0 0 1 0 0 STAR 6770 broad.mit.edu 37 8 38005733 38005733 + Silent SNP C C T TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr8:38005733C>T uc003xkv.1 - 2 555 c.291G>A c.(289-291)aaG>aaA p.K97K NM_000349 NP_000340 P49675 STAR_HUMAN Homo sapiens steroidogenic acute regulatory protein (STAR), nuclear gene encoding mitochondrial protein, mRNA. 97 START. C21-steroid hormone biosynthetic process mitochondrial intermembrane space cholesterol transporter activity breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 Colorectal(12;0.000442) all_lung(54;0.0151)|Lung NSC(58;0.0295) READ - Rectum adenocarcinoma(644;0.188) GACTCTCCTTCTTCCAGCCCT 0.557000 9 33 0 0 1 0 0 MB21D1 115004 broad.mit.edu 37 6 74161389 74161389 + Silent SNP C C T TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr6:74161389C>T uc003pgx.1 - 0 655 c.516G>A c.(514-516)ttG>ttA p.L172L NM_138441 NP_612450 Q8N884 M21D1_HUMAN Homo sapiens Mab-21 domain containing 1 (MB21D1), mRNA. 172 central_nervous_system(1)|large_intestine(4)|lung(1) 6 GGCTGAGCTTCAACTTCTCCA 0.667000 5 26 0 0 1 0 0 NIPAL3 57185 broad.mit.edu 37 1 24785395 24785395 + Missense_Mutation SNP C C T TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr1:24785395C>T uc001bjh.3 + 8 1198 c.791C>T c.(790-792)tCa>tTa p.S264L NIPAL3_uc009vrc.3_Missense_Mutation_p.S182L|NIPAL3_uc001bji.3_Silent_p.L72L NM_020448 NP_065181 Q6P499 NPAL3_HUMAN Homo sapiens NIPA-like domain containing 3 (NIPAL3), mRNA. 264 integral to membrane endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1) 14 AGTCAAGCCTCACAGATGTAC 0.468000 17 58 0 0 1 0 0 VWA7 80737 broad.mit.edu 37 6 31741165 31741165 + Silent SNP C C T TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr6:31741165C>T uc011dog.2 - 5 1009 c.771G>A c.(769-771)ccG>ccA p.P257P VWA7_uc003nxd.2_Intron|VWA7_uc011doh.1_Intron NM_025258 NP_079534 Q9Y334 G7C_HUMAN Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA. 257 extracellular region TGCCTCCCCTCGGTGGCTGGG 0.602000 5 20 0 0 1 0 0 BFSP2 8419 broad.mit.edu 37 3 133185795 133185795 + Missense_Mutation SNP C C T TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr3:133185795C>T uc003epn.1 + 4 1153 c.1015C>T c.(1015-1017)Cgt>Tgt p.R339C NM_003571 NP_003562 Q13515 BFSP2_HUMAN Homo sapiens beaded filament structural protein 2, phakinin (BFSP2), mRNA. 339 Rod. response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1) 13 AGAATCCTTACGTGCCCTGGT 0.517000 16 54 0 0 1 0 0 OR4D9 390199 broad.mit.edu 37 11 59283197 59283197 + Missense_Mutation SNP T T A TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr11:59283197T>A uc010rkv.2 + 0 812 c.812T>A c.(811-813)aTc>aAc p.I271N NM_001004711 NP_001004711 Q8NGE8 OR4D9_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA. 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1) 26 GACACTGCCATCTCTGTCACC 0.532000 45 207 0 0 1 0 0 MAP4K4 9448 broad.mit.edu 37 2 102450904 102450904 + Missense_Mutation SNP G G C TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr2:102450904G>C uc002tbc.3 + 7 1051 c.673G>C c.(673-675)Gag>Cag p.E225Q MAP4K4_uc002tbf.3_Missense_Mutation_p.E225Q|MAP4K4_uc002tbd.3_Missense_Mutation_p.E225Q|MAP4K4_uc010yvy.2_Missense_Mutation_p.E225Q|MAP4K4_uc002tbh.3_Missense_Mutation_p.E225Q|MAP4K4_uc002tbg.3_Missense_Mutation_p.E225Q|MAP4K4_uc002tbi.3_Intron|MAP4K4_uc010yvz.2_Missense_Mutation_p.E205Q|MAP4K4_uc010fiw.1_Missense_Mutation_p.E67Q|MAP4K4_uc002tbj.1_Missense_Mutation_p.E121Q NM_145687 NP_001229488 O95819 M4K4_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA. 225 Protein kinase. intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TACAGCCATTGAGATGGCAGA 0.408000 4 21 0 0 1 0 0 TRIML1 339976 broad.mit.edu 37 4 189060832 189060832 + Silent SNP C C T TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr4:189060832C>T uc003izm.1 + 0 235 c.120C>T c.(118-120)ctC>ctT p.L40L NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA. 40 multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) TGGTGTGTCTCCTCAGGAGCT 0.547000 67 234 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117900212 117900212 + Silent SNP G G A TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr6:117900212G>A uc003pxu.3 - 1 555 c.301C>T c.(301-303)Ctg>Ttg p.L101L ROS1_uc003pxv.3_Silent_p.L101L|ROS1_uc010keg.2_5'Flank NM_020399 NP_065132 P08922 ROS_HUMAN Homo sapiens golgi-associated PDZ and coiled-coil motif containing (GOPC), transcript variant 1, mRNA. 0 Fibronectin type-III 1. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TCAGATTTCAGATCCACCAAC 0.348000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 13 41 0 0 1 0 0 PAN3 255967 broad.mit.edu 37 13 28851441 28851441 + Missense_Mutation SNP A A G TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr13:28851441A>G uc001urz.3 + 14 2269 c.2117A>G c.(2116-2118)cAg>cGg p.Q706R PAN3_uc001ury.3_Missense_Mutation_p.Q394R|PAN3_uc001urx.3_Missense_Mutation_p.Q506R NM_175854 NP_787050 Q58A45 PAN3_HUMAN Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA. 706 Interaction with PAN2.|Protein kinase. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) GCAGGAATTCAGCGAGAGAAT 0.338000 3 109 0 0 1 0 0 NUBP1 4682 broad.mit.edu 37 16 10855244 10855244 + Silent SNP G G C TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr16:10855244G>C uc002daa.1 + 7 653 c.630G>C c.(628-630)cgG>cgC p.R210R FAM18A_uc010uyr.1_Non-coding_Transcript|FAM18A_uc010uys.1_Non-coding_Transcript|FAM18A_uc010uyt.1_Non-coding_Transcript|FAM18A_uc010bun.2_Non-coding_Transcript|FAM18A_uc010uyu.1_Non-coding_Transcript|FAM18A_uc002dad.3_Non-coding_Transcript|NUBP1_uc010bum.1_Silent_p.R75R|NUBP1_uc002dab.1_Silent_p.R199R NM_002484 NP_002475 P53384 NUBP1_HUMAN Homo sapiens nucleotide binding protein 1 (NUBP1), mRNA. 210 cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly cytosol 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding large_intestine(2)|lung(3)|ovary(1)|skin(4) 10 AGGATGTCCGGAAAGAAATCA 0.537000 19 47 0 0 1 0 0 KIF15 56992 broad.mit.edu 37 3 44839336 44839336 + Missense_Mutation SNP G G A TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr3:44839336G>A uc003cnx.4 + 9 1135 c.986G>A c.(985-987)gGa>gAa p.G329E KIF15_uc010hiq.3_Missense_Mutation_p.G232E|KIF15_uc003cny.1_5'Flank NM_020242 NP_064627 Q9NS87 KIF15_HUMAN Homo sapiens kinesin family member 15 (KIF15), mRNA. 329 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) GATTCCCTTGGAGGTAATGCC 0.403000 27 74 0 0 1 0 0