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 CMTM3 123920 broad.mit.edu 37 16 66643846 66643846 + Missense_Mutation SNP G G A TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr16:66643846G>A ENST00000424011.2 + 5 986 c.460G>A c.(460-462)Gtg>Atg p.V154M CMTM3_ENST00000568477.1_Missense_Mutation_p.V68M|CMTM3_ENST00000567572.1_Missense_Mutation_p.V154M|CMTM3_ENST00000566121.1_Missense_Mutation_p.V68M|CMTM3_ENST00000562707.1_Missense_Mutation_p.V154M|CMTM3_ENST00000565922.1_Intron|CMTM3_ENST00000565003.1_Missense_Mutation_p.V68M|CMTM3_ENST00000565666.1_3'UTR|CMTM3_ENST00000564060.1_Missense_Mutation_p.V122M|CMTM3_ENST00000460097.1_Missense_Mutation_p.V68M|CMTM3_ENST00000361909.4_Missense_Mutation_p.V154M|CMTM3_ENST00000360086.4_Intron Q96MX0 CKLF3_HUMAN CKLF-like MARVEL transmembrane domain containing 3 154 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity central_nervous_system(1)|endometrium(1)|lung(2) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0671)|Epithelial(162;0.164) CTTTAACGACGTGGCCAAATT 0.527000 7 73 0 0 1 0 0 HTR1D 3352 broad.mit.edu 37 1 23520183 23520183 + Missense_Mutation SNP C C T TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr1:23520183C>T ENST00000374619.1 - 1 1039 c.530G>A c.(529-531)cGg>cAg p.R177Q HTR1D_ENST00000314113.3_Missense_Mutation_p.R177Q NM_000864.4 NP_000855.1 P28221 5HT1D_HUMAN 5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled 177 G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission integral to plasma membrane serotonin receptor activity p.R177Q(1) NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185) Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315) CTTGGCCTGCCGCCAGAAGAG 0.597000 17 32 0 0 1 0 0 ARFGAP2 84364 broad.mit.edu 37 11 47196860 47196860 + Missense_Mutation SNP G G A TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr11:47196860G>A ENST00000524782.1 - 4 497 c.269C>T c.(268-270)gCt>gTt p.A90V ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000319543.6_Intron|ARFGAP2_ENST00000426335.2_Intron|ARFGAP2_ENST00000419701.2_Missense_Mutation_p.A11V NM_001242832.1|NM_032389.4 NP_001229761.1|NP_115765.2 Q8N6H7 ARFG2_HUMAN ADP-ribosylation factor GTPase activating protein 2 90 Arf-GAP. protein transport|regulation of ARF GTPase activity|vesicle-mediated transport Golgi membrane|nucleolus|plasma membrane ARF GTPase activator activity|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 GCGAAAAAAAGCCGTCTGGAG 0.512000 35 65 0 0 1 0 0 TBX4 9496 broad.mit.edu 37 17 59560652 59560652 + Silent SNP T T C TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr17:59560652T>C ENST00000393853.4 + 9 1579 c.1416T>C c.(1414-1416)ttT>ttC p.F472F TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Silent_p.F471F P57082 TBX4_HUMAN T-box 4 471 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 ATGCCCACTTTAGTGTCTACA 0.647000 15 51 0 0 1 0 0 TET1 80312 broad.mit.edu 37 10 70332828 70332828 + Nonsense_Mutation SNP C C T TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr10:70332828C>T ENST00000373644.4 + 2 942 c.733C>T c.(733-735)Cag>Tag p.Q245* NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 245 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 AATGTTTGCTCAGGACACAGT 0.488000 28 46 0 0 1 0 0 COX5B 1329 broad.mit.edu 37 2 98264496 98264496 + Silent SNP G G A TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr2:98264496G>A ENST00000258424.2 + 4 362 c.315G>A c.(313-315)ctG>ctA p.L105L COX5B_ENST00000464949.1_3'UTR NM_001862.2 NP_001853.2 P10606 COX5B_HUMAN cytochrome c oxidase subunit Vb 105 respiratory electron transport chain|respiratory gaseous exchange mitochondrial inner membrane cytochrome-c oxidase activity|metal ion binding endometrium(1)|lung(1)|urinary_tract(1) 3 GGTTTTGGCTGCACAAAGGCG 0.507000 4 29 0 0 1 0 0 KIF4A 24137 broad.mit.edu 37 X 69572507 69572507 + Splice_Site SNP G G A TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chrX:69572507G>A ENST00000374403.3 + 14 1570 c.e14+1 KIF4A_ENST00000374388.3_Splice_Site NM_012310.4 NP_036442.3 O95239 KIF4A_HUMAN kinesin family member 4A anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 51 GCAAGAAGCCGTAAGTAATTG 0.433000 4 52 0 0 1 0 0 TRMT2B 79979 broad.mit.edu 37 X 100277044 100277044 + Missense_Mutation SNP A A G TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chrX:100277044A>G ENST00000338687.7 - 8 1434 c.629T>C c.(628-630)cTc>cCc p.L210P TRMT2B_ENST00000372936.3_Missense_Mutation_p.L255P|TRMT2B_ENST00000372939.1_Missense_Mutation_p.L210P|TRMT2B_ENST00000545398.1_Missense_Mutation_p.L255P|TRMT2B_ENST00000372931.5_Missense_Mutation_p.L255P|TRMT2B_ENST00000372935.1_Missense_Mutation_p.L255P Q96GJ1 TRM2_HUMAN tRNA methyltransferase 2 homolog B (S. cerevisiae) 255 tRNA (uracil-5-)-methyltransferase activity breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 24 CTGAACATGGAGCTCCTCCTG 0.448000 5 55 0 0 1 0 0 CYLC1 1538 broad.mit.edu 37 X 83127919 83127919 + Missense_Mutation SNP A A G TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chrX:83127919A>G ENST00000329312.4 + 4 240 c.203A>G c.(202-204)gAa>gGa p.E68G NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 68 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 AAACTAGAAGAAGGCCAGAAA 0.343000 15 21 0 0 1 0 0 DTX1 1840 broad.mit.edu 37 12 113532652 113532652 + Missense_Mutation SNP G G A TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr12:113532652G>A ENST00000257600.3 + 6 1789 c.1286G>A c.(1285-1287)cGg>cAg p.R429Q DTX1_ENST00000547974.1_3'UTR NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 429 negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 GGCGTGCTTCGGCACAAGGGC 0.652000 14 21 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 5 57 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76876000 76876000 + Splice_Site SNP C C T TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chrX:76876000C>T ENST00000373344.5 - 20 5349 c.5134_splice c.e20-1 p.G1712_splice ATRX_ENST00000395603.3_Splice_Site_p.G1674_splice|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1712 Helicase ATP-binding. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) AAAATCAGGGCCTACAAAAAT 0.289000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 12 24 0 0 1 0 0 FAM196A 642938 broad.mit.edu 37 10 128974295 128974295 + Missense_Mutation SNP C C T TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr10:128974295C>T ENST00000522781.1 - 4 920 c.365G>A c.(364-366)cGc>cAc p.R122H DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.R122H NM_001039762.2 NP_001034851.1 Q6ZSG2 F196A_HUMAN family with sequence similarity 196, member A 122 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 CCCCTTTTTGCGGTCCAGAGG 0.547000 4 68 0 0 1 0 0 ZHX3 23051 broad.mit.edu 37 20 39831589 39831589 + Silent SNP A A T TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr20:39831589A>T ENST00000309060.3 - 4 2383 c.1968T>A c.(1966-1968)atT>atA p.I656I ZHX3_ENST00000559234.1_Silent_p.I656I|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Silent_p.I656I|ZHX3_ENST00000432768.2_Silent_p.I656I|ZHX3_ENST00000540170.1_Silent_p.I656I|ZHX3_ENST00000560361.1_Silent_p.I656I Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 656 negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) ACCAGCTATCAATTTCTCGTC 0.502000 4 154 0 0 1 0 0 GNAT1 2779 broad.mit.edu 37 3 50230983 50230983 + Silent SNP G G A TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr3:50230983G>A ENST00000232461.3 + 4 450 c.336G>A c.(334-336)gaG>gaA p.E112E GNAT1_ENST00000433068.1_Silent_p.E112E NM_144499.2 NP_653082.1 P11488 GNAT1_HUMAN guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 112 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) CTATCGAGGAGGGCACGATGC 0.652000 12 29 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 24 47 0 0 1 0 0 WBP11P1 0 broad.mit.edu 37 18 30091799 30091799 + RNA SNP A A G TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr18:30091799A>G ENST00000567636.1 + 0 174 NR_003558.1 ttAAATGAACAAGTAAACCAT 0.438000 22 52 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577108 7577108 + Missense_Mutation SNP C C A TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr17:7577108C>A ENST00000420246.2 - 8 962 c.830G>T c.(829-831)tGt>tTt p.C277F TP53_ENST00000455263.2_Missense_Mutation_p.C277F|TP53_ENST00000359597.4_Missense_Mutation_p.C277F|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.C277F|TP53_ENST00000445888.2_Missense_Mutation_p.C277F NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 277 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C277F(24)|p.C277Y(15)|p.0?(8)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C277S(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCTCCCAGGACAGGCACAAAC 0.547000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 21 10 1.64113e-05 1.64113e-05 1 1 0 UGT8 7368 broad.mit.edu 37 4 115544143 115544143 + Missense_Mutation SNP A A G TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr4:115544143A>G ENST00000310836.6 + 2 629 c.107A>G c.(106-108)tAc>tGc p.Y36C UGT8_ENST00000394511.3_Missense_Mutation_p.Y36C NM_001128174.1 NP_001121646.1 Q16880 CGT_HUMAN UDP glycosyltransferase 8 36 central nervous system development|peripheral nervous system development integral to membrane 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000632) AGCCATATGTACATTTTCAAG 0.478000 16 30 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45833896 45833896 + Missense_Mutation SNP C C G TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr21:45833896C>G ENST00000397928.1 + 20 3530 c.3085C>G c.(3085-3087)Ctc>Gtc p.L1029V TRPM2_ENST00000300481.9_Missense_Mutation_p.L1009V|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.L1029V|TRPM2_ENST00000397932.2_Missense_Mutation_p.L1029V NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1029 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 GGTCCTCCTACTCTGCCTCTA 0.642000 6 262 0 0 1 0 0 SEPT6 23157 broad.mit.edu 37 X 118774726 118774726 + Missense_Mutation SNP C C T TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chrX:118774726C>T ENST00000394610.1 - 6 980 c.716G>A c.(715-717)gGc>gAc p.G239D SEPT6_ENST00000343984.5_Missense_Mutation_p.G239D|SEPT6_ENST00000394616.4_Missense_Mutation_p.G181D|SEPT6_ENST00000489216.1_Missense_Mutation_p.G239D|SEPT6_ENST00000394617.2_Missense_Mutation_p.G269D|SEPT6_ENST00000360156.7_Missense_Mutation_p.G239D|SEPT6_ENST00000354416.3_Missense_Mutation_p.G239D|SEPT6_ENST00000354228.4_Missense_Mutation_p.G239D NM_145799.3 NP_665798.1 Q14141 SEPT6_HUMAN septin 6 239 cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3) 17 TTCTGTGCTGCCAATGACAGC 0.537000 T MLL AML 13 64 0 0 1 0 0 RNF216 54476 broad.mit.edu 37 7 5781284 5781284 + Missense_Mutation SNP C C T TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr7:5781284C>T ENST00000389902.3 - 4 631 c.364G>A c.(364-366)Ggg>Agg p.G122R RNF216_ENST00000425013.2_Intron Q9NWF9 RN216_HUMAN ring finger protein 216 65 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) TCCTGTGCCCCAGAATCAAAC 0.433000 4 169 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107602687 107602687 + Silent SNP G G A TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr9:107602687G>A ENST00000374736.3 - 9 1321 c.927C>T c.(925-927)tgC>tgT p.C309C NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 309 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CGGGATGCCCGCAGACAATAC 0.532000 3 45 0 0 1 0 0 ZSCAN21 7589 broad.mit.edu 37 7 99661835 99661835 + Missense_Mutation SNP A A G TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr7:99661835A>G ENST00000543588.1 + 6 1158 c.914A>G c.(913-915)aAg>aGg p.K305R ZSCAN21_ENST00000292450.4_Silent_p.K339K|ZSCAN21_ENST00000477297.1_3'UTR|ZNF3_ENST00000413658.2_3'UTR|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.K305R Q9Y5A6 ZSC21_HUMAN zinc finger and SCAN domain containing 21 0 positive regulation of transcription, DNA-dependent|viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1) 21 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) AGTGTGGAAAAGCTTTTGGGC 0.502000 29 48 0 0 1 0 0 hsa-mir-6080 0 broad.mit.edu 37 17 62758555 62758555 + RNA SNP T T C TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr17:62758555T>C ENST00000400873.3 - 0 1390 NR_026899.1 AGAGTAGATATGGTAAGAACT 0.433000 14 29 0 0 1 0 0 OR13C3 138803 broad.mit.edu 37 9 107298302 107298302 + Missense_Mutation SNP G G A TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr9:107298302G>A ENST00000374781.2 - 1 835 c.793C>T c.(793-795)Cgc>Tgc p.R265C NM_001001961.1 NP_001001961.1 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, member 3 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 AATGCCTTGCGTCTTCCTGTG 0.428000 19 73 0 0 1 0 0 ASZ1 136991 broad.mit.edu 37 7 117003694 117003694 + Missense_Mutation SNP C C T TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr7:117003694C>T ENST00000284629.2 - 13 1446 c.1384G>A c.(1384-1386)Ggt>Agt p.G462S NM_130768.2 NP_570124.1 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper domain containing 1 462 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1) 24 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) AGAAGAAAACCGAATCCGCAT 0.318000 32 74 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 62 0 0 1 0 0 ZFYVE20 64145 broad.mit.edu 37 3 15126301 15126301 + Missense_Mutation SNP C C T TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr3:15126301C>T ENST00000253699.3 - 8 1152 c.539G>A c.(538-540)cGc>cAc p.R180H ZFYVE20_ENST00000449964.2_5'UTR|ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R180H|ZFYVE20_ENST00000435849.3_Missense_Mutation_p.R180H NM_022340.2 NP_071735.2 Q9H1K0 RBNS5_HUMAN zinc finger, FYVE domain containing 20 180 Necessary for the correct targeting to endosomes. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2) 26 CCCGCAGAGGCGGCAGTGGTG 0.547000 4 67 0 0 1 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24909113 24909113 + Nonsense_Mutation SNP G G A rs139365604 TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr10:24909113G>A ENST00000396432.2 - 9 2197 c.1711C>T c.(1711-1713)Cga>Tga p.R571* ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.R358* NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 570 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 CCACTCATTCGCCTGTTATCA 0.393000 7 167 0 0 1 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27998604 27998604 + Missense_Mutation SNP G G A TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chrX:27998604G>A ENST00000441525.1 - 1 962 c.848C>T c.(847-849)gCc>gTc p.A283V NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 283 NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 CCTGTGCTTGGCCACACGCTT 0.507000 24 48 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39823120 39823120 + Missense_Mutation SNP A A T TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr1:39823120A>T ENST00000564288.1 + 45 12275 c.11498A>T c.(11497-11499)gAt>gTt p.D3833V MACF1_ENST00000539005.1_Missense_Mutation_p.D1771V|MACF1_ENST00000361689.2_Missense_Mutation_p.D1771V|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000372915.3_Missense_Mutation_p.D3838V|MACF1_ENST00000567887.1_Missense_Mutation_p.D3870V|MACF1_ENST00000317713.7_Missense_Mutation_p.D1771V|MACF1_ENST00000545844.1_Missense_Mutation_p.D1771V|MACF1_ENST00000289893.4_Missense_Mutation_p.D2273V Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 3838 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GCCTTCTTGGATCAGCATGGC 0.502000 4 52 0 0 1 0 0 TMEM45A 55076 broad.mit.edu 37 3 100274191 100274191 + Missense_Mutation SNP T T G TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr3:100274191T>G ENST00000403410.1 + 4 804 c.184T>G c.(184-186)Ttc>Gtc p.F62V TMEM45A_ENST00000462884.1_3'UTR|TMEM45A_ENST00000323523.4_Missense_Mutation_p.F46V Q9NWC5 TM45A_HUMAN transmembrane protein 45A 46 integral to membrane breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2) 11 CAAAACATTATTCTATCGATT 0.353000 3 99 0 0 1 0 0 ZCCHC2 54877 broad.mit.edu 37 18 60242148 60242148 + Missense_Mutation SNP C C T TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr18:60242148C>T ENST00000269499.5 + 13 3252 c.2834C>T c.(2833-2835)cCa>cTa p.P945L ZCCHC2_ENST00000586834.1_Missense_Mutation_p.P624L NM_017742.4 NP_060212.4 Q9C0B9 ZCHC2_HUMAN zinc finger, CCHC domain containing 2 945 cell communication cytoplasm nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 TCTCCCCAGCCAGCGAGCGCA 0.642000 24 43 0 0 1 0 0 CA8 767 broad.mit.edu 37 8 61121347 61121347 + Silent SNP C C T TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr8:61121347C>T ENST00000317995.4 - 8 1134 c.870G>A c.(868-870)caG>caA p.Q290Q NM_004056.4 NP_004047.3 P35219 CAH8_HUMAN carbonic anhydrase VIII 290 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1) 16 all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474) TCTTTGGCTACTGAAATGCAG 0.468000 22 60 0 0 1 0 0 CYLC1 1538 broad.mit.edu 37 X 83128300 83128300 + Missense_Mutation SNP G G T TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chrX:83128300G>T ENST00000329312.4 + 4 621 c.584G>T c.(583-585)tGt>tTt p.C195F NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 195 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 TCAAAAAATTGTTCACAAAAA 0.318000 15 40 7.93312e-07 8.09839e-07 1 1 0 ARSD 414 broad.mit.edu 37 X 2836162 2836162 + Silent SNP G G A TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chrX:2836162G>A ENST00000381154.1 - 5 621 c.546C>T c.(544-546)aaC>aaT p.N182N ARSD_ENST00000217890.6_5'UTR NM_001669.3 NP_001660.2 P51689 ARSD_HUMAN arylsulfatase D 182 lysosome arylsulfatase activity|metal ion binding large_intestine(3)|lung(3) 6 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGTCACAGTCGTTTGTGAGCG 0.632000 9 7 0 0 1 0 0 SLC9C2 284525 broad.mit.edu 37 1 173526585 173526585 + Missense_Mutation SNP C C T TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr1:173526585C>T ENST00000367714.3 - 10 1531 c.1109G>A c.(1108-1110)cGa>cAa p.R370Q SLC9C2_ENST00000536496.1_Missense_Mutation_p.R268Q|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_5'UTR NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 370 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity AACTCCCCATCGCCAATTATA 0.368000 45 104 0 0 1 0 0 MEST 4232 broad.mit.edu 37 7 130138088 130138088 + Missense_Mutation SNP G G A TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr7:130138088G>A ENST00000223215.4 + 5 669 c.448G>A c.(448-450)Gat>Aat p.D150N MEST_ENST00000437945.1_Missense_Mutation_p.D150N|MEST_ENST00000393187.1_Missense_Mutation_p.D141N|MEST_ENST00000378576.4_Missense_Mutation_p.D141N|hsa-mir-335_ENST00000604666.1_RNA|MEST_ENST00000462132.1_3'UTR|MEST_ENST00000341441.4_Missense_Mutation_p.D141N|MEST_ENST00000416162.2_Missense_Mutation_p.D141N NM_001253900.1|NM_002402.3 NP_001240829.1|NP_002393.2 Q5EB52 MEST_HUMAN mesoderm specific transcript 150 mesoderm development endoplasmic reticulum membrane|integral to membrane hydrolase activity|protein binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2) 12 Melanoma(18;0.0435) TGACTATGGAGATATTGTTGC 0.463000 28 52 0 0 1 0 0 PLEKHM1P 0 broad.mit.edu 37 17 62818136 62818136 + RNA SNP G G C TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr17:62818136G>C ENST00000582986.1 - 0 362 NR_024386.1 CTGAAGAATGGGAAATGGAAT 0.572000 6 32 0 0 1 0 0 SLC27A3 11000 broad.mit.edu 37 1 153748614 153748615 + Frame_Shift_Del DEL GC GC - TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr1:153748614_153748615delGC ENST00000271857.2 + 1 1785_1786 c.1025_1026delGC c.(1024-1026)gfs p.G342fs SLC27A3_ENST00000368661.3_Frame_Shift_Del_p.G261fs|SLC27A3_ENST00000484014.1_3'UTR Q5K4L6 S27A3_HUMAN solute carrier family 27 (fatty acid transporter), member 3 261 fatty acid metabolic process integral to membrane|mitochondrial membrane ligase activity|nucleotide binding NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CGCAGCTGCGGCGCGCGCGCGC 0.718 2 4 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14096906 14096906 + RNA DEL A A - TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr11:14096906delA ENST00000310358.7 + 0 1032 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) AGCATCGTACAAAAACGCATT 0.517 2 4 --- --- --- --- TMOD2 29767 broad.mit.edu 37 15 52060571 52060574 + Frame_Shift_Del DEL AGAA AGAA - TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr15:52060571_52060574delAGAA ENST00000249700.4 + 3 460_463 c.239_242delAGAA c.(238-243)cafs p.QK80fs TMOD2_ENST00000539962.2_Frame_Shift_Del_p.QK36fs|TMOD2_ENST00000435126.2_Frame_Shift_Del_p.QK80fs NM_001142885.1|NM_014548.3 NP_001136357.1|NP_055363.1 Q9NZR1 TMOD2_HUMAN tropomodulin 2 (neuronal) 80 nervous system development cytoplasm|cytoskeleton actin binding|tropomyosin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 all cancers(107;0.00435) GCTTTGGAACAGAAAGACAGAGAG 0.505 9 48 --- --- --- --- NPIPB1P 0 broad.mit.edu 37 18 11625378 11625379 + RNA INS - - A rs141097667 TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7bd016e-062a-49f1-8294-8fcb32b15cb0 22ba3a91-d5b4-4dde-a2cf-84830a225008 g.chr18:11625378_11625379insA ENST00000547442.1 - 0 621 CTCTTCCCCCGAAAAATGACAA 0.401 2 4 --- --- --- ---