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 CATSPER4 378807 broad.mit.edu 37 1 26524560 26524560 + Missense_Mutation SNP T G G TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chr1:26524560T>G uc010oez.1 + 5 670 c.670T>G c.(670-672)TTC>GTC p.F224V CATSPER4_uc010oey.1_Missense_Mutation_p.F46V|CATSPER4_uc009vsf.2_RNA NM_198137 NP_937770 Q7RTX7 CTSR4_HUMAN cation channel, sperm associated 4 224 Helical; Name=Segment S5; (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity ovary(1) 1 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) CATCCTCTTCTTCATGCTGGT 0.597 SDCCAG8 10806 broad.mit.edu 37 1 243507526 243507526 + Missense_Mutation SNP G C C TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chr1:243507526G>C uc001hzw.2 + 12 1522 c.1366G>C c.(1366-1368)GAA>CAA p.E456Q SDCCAG8_uc010pyk.1_Missense_Mutation_p.E311Q|SDCCAG8_uc010pyl.1_Missense_Mutation_p.E268Q|SDCCAG8_uc001hzx.2_Missense_Mutation_p.E268Q NM_006642 NP_006633 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 456 Potential.|Sufficient for homodimerization (By similarity). establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding 0 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) GGTGTGTGGAGAAATGCGCTA 0.423 SDCCAG8 10806 broad.mit.edu 37 1 243507574 243507574 + Missense_Mutation SNP G A A TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chr1:243507574G>A uc001hzw.2 + 12 1570 c.1414G>A c.(1414-1416)GAA>AAA p.E472K SDCCAG8_uc010pyk.1_Missense_Mutation_p.E327K|SDCCAG8_uc010pyl.1_Missense_Mutation_p.E284K|SDCCAG8_uc001hzx.2_Missense_Mutation_p.E284K NM_006642 NP_006633 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 472 Potential.|Sufficient for homodimerization (By similarity). establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding 0 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) GGATGAGGCAGAAAAGGAGCA 0.393 OGDHL 55753 broad.mit.edu 37 10 50959004 50959004 + Missense_Mutation SNP C A A TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chr10:50959004C>A uc001jie.2 - 7 919 c.777G>T c.(775-777)TGG>TGT p.W259C OGDHL_uc009xog.2_Missense_Mutation_p.W286C|OGDHL_uc010qgt.1_Missense_Mutation_p.W202C|OGDHL_uc010qgu.1_Missense_Mutation_p.W50C|OGDHL_uc009xoh.2_Missense_Mutation_p.W50C NM_018245 NP_060715 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like isoform a 259 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding pancreas(1) 1 TCTCTGAGGACCATTTCCGGG 0.418 CYSLTR2 57105 broad.mit.edu 37 13 49280992 49280992 + Silent SNP C T T TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chr13:49280992C>T uc010acx.1 + 6 722 c.39C>T c.(37-39)TCC>TCT p.S13S CYSLTR2_uc010acy.1_Silent_p.S13S|CYSLTR2_uc010acz.1_Silent_p.S13S|CYSLTR2_uc010ada.1_Silent_p.S13S|CYSLTR2_uc010adb.1_Silent_p.S13S|CYSLTR2_uc010adc.1_Silent_p.S13S|CYSLTR2_uc010add.1_Silent_p.S13S|CYSLTR2_uc010acw.1_Silent_p.S13S|CYSLTR2_uc001vck.2_Silent_p.S13S NM_020377 NP_065110 Q9NS75 CLTR2_HUMAN cysteinyl leukotriene receptor 2 13 Extracellular (Potential). immune response integral to membrane|plasma membrane lung(2) 2 all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787) GBM - Glioblastoma multiforme(99;1.19e-09) Nedocromil(DB00716) CATCCATCTCCGTATCAGAAA 0.373 SLC27A2 11001 broad.mit.edu 37 15 50515253 50515253 + Missense_Mutation SNP A G G TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chr15:50515253A>G uc001zxw.2 + 5 1296 c.1064A>G c.(1063-1065)GAC>GGC p.D355G SLC27A2_uc010bes.2_Missense_Mutation_p.D302G|SLC27A2_uc001zxx.2_Missense_Mutation_p.D120G NM_003645 NP_003636 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid 355 Cytoplasmic (Potential). bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity ovary(1)|skin(1) 2 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) AGATTTGGGGACATATGCATC 0.428 SEC11A 23478 broad.mit.edu 37 15 85234816 85234816 + Silent SNP C T T TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chr15:85234816C>T uc002blb.1 - 2 479 c.111G>A c.(109-111)AAG>AAA p.K37K SEC11A_uc002blc.1_Silent_p.K11K NM_014300 NP_055115 P67812 SC11A_HUMAN SEC11-like 1 37 Lumenal (Potential). energy reserve metabolic process|regulation of insulin secretion|signal peptide processing endoplasmic reticulum membrane|integral to membrane|microsome protein binding|serine-type peptidase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(143;0.199) CCATTAACCCCTTCCAGATCA 0.408 C16orf54 283897 broad.mit.edu 37 16 29755735 29755735 + Missense_Mutation SNP C T T TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chr16:29755735C>T uc002dtp.2 - 2 647 c.538G>A c.(538-540)GTC>ATC p.V180I uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002dtq.1_5'Flank NM_175900 NP_787096 Q6UWD8 CP054_HUMAN hypothetical protein LOC283897 180 integral to membrane 0 CCAAACTGGACGCTGGCCTCT 0.711 PKD1L2 114780 broad.mit.edu 37 16 81211460 81211460 + Missense_Mutation SNP C T T TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chr16:81211460C>T uc002fgh.1 - 14 2389 c.2389G>A c.(2389-2391)GCC>ACC p.A797T PKD1L2_uc002fgg.1_RNA|PKD1L2_uc002fgi.2_Missense_Mutation_p.A112T|PKD1L2_uc002fgj.2_Missense_Mutation_p.A797T|PKD1L2_uc002fgk.1_5'UTR|PKD1L2_uc002fgl.1_Intron NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 797 REJ.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 GCTGTGGAGGCGTTGCAGAAG 0.592 TP53 7157 broad.mit.edu 37 17 7578190 7578190 + Missense_Mutation SNP T C C rs121912666 TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chr17:7578190T>C uc002gim.2 - 6 853 c.659A>G c.(658-660)TAT>TGT p.Y220C TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.2_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.1_Missense_Mutation_p.Y181C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 220 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Y -> N (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> C (in LFS; 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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y220C(205)|p.Y220N(12)|p.Y220H(9)|p.Y220S(9)|p.0?(7)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(2)|p.Y127C(2)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.?(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*1(1)|p.Y220fs*2(1)|p.V218fs*26(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 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) AGGCGGCTCATAGGGCACCAC 0.557 111 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 Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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) KRTAP4-11 653240 broad.mit.edu 37 17 39274319 39274319 + Missense_Mutation SNP G C C TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chr17:39274319G>C uc002hvz.2 - 1 288 c.249C>G c.(247-249)AGC>AGG p.S83R NM_033059 NP_149048 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 83 12.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCTTGCAGCAGCTGGACACAC 0.483 KCTD2 23510 broad.mit.edu 37 17 73043590 73043590 + Missense_Mutation SNP A G G TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chr17:73043590A>G uc002jmp.2 + 1 312 c.245A>G c.(244-246)TAC>TGC p.Y82C KCTD2_uc010dfy.1_Intron|KCTD2_uc010dfz.2_Intron|ATP5H_uc002jmn.1_5'Flank|ATP5H_uc002jmo.1_5'Flank|KCTD2_uc002jmq.2_RNA NM_015353 NP_056168 Q14681 KCTD2_HUMAN potassium channel tetramerisation domain 82 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity 0 all_lung(278;0.226) GGAGGCACCTACTTCGTGACC 0.388 ZNF525 170958 broad.mit.edu 37 19 53885026 53885026 + Silent SNP T C C rs61741918 by1000genomes TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chr19:53885026T>C uc010eqn.2 + 4 1279 c.1086T>C c.(1084-1086)CTT>CTC p.L362L ZNF525_uc002qbl.2_Intron|ZNF765_uc010ydx.1_Intron NR_003699 Homo sapiens cDNA FLJ39718 fis, clone SMINT2013695. 0 TGTCAACCCTTACATGCCATC 0.383 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C T T rs121913500 TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chr2:209113112C>T uc002vcs.2 - 4 641 c.395G>A c.(394-396)CGT>CAT p.R132H IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H NM_005896 NP_005887 O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 Substrate. R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|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).|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 -> 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). 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(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1) central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1) 2868 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393 Mis gliobastoma ALPPL2 251 broad.mit.edu 37 2 233274433 233274433 + Missense_Mutation SNP G A A TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chr2:233274433G>A uc002vss.3 + 11 1503 c.1450G>A c.(1450-1452)GCC>ACC p.A484T NM_031313 NP_112603 P10696 PPBN_HUMAN placental-like alkaline phosphatase 484 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding skin(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) CATGGCCTTCGCCGCCTGCCT 0.751 SPP2 6694 broad.mit.edu 37 2 234967503 234967503 + Missense_Mutation SNP C G G TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chr2:234967503C>G uc002vvk.1 + 3 319 c.234C>G c.(232-234)AAC>AAG p.N78K SPP2_uc010fyl.1_5'UTR NM_006944 NP_008875 Q13103 SPP24_HUMAN secreted phosphoprotein 2, 24kDa precursor 78 bone remodeling|skeletal system development extracellular region endopeptidase inhibitor activity 0 Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182) Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846) ATGAGAACAACTTGGTCATGA 0.423 PER2 8864 broad.mit.edu 37 2 239157759 239157759 + Missense_Mutation SNP G A A TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chr2:239157759G>A uc002vyc.2 - 22 3799 c.3562C>T c.(3562-3564)CGC>TGC p.R1188C PER2_uc010znv.1_Missense_Mutation_p.R1188C NM_022817 NP_073728 O15055 PER2_HUMAN period 2 1188 CRY binding domain (By similarity). circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity upper_aerodigestive_tract(1)|breast(1) 2 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) TGGACCTCGCGCAGCTCCTGC 0.567 CHD6 84181 broad.mit.edu 37 20 40049780 40049780 + Missense_Mutation SNP C T T TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chr20:40049780C>T uc002xka.1 - 31 5673 c.5495G>A c.(5494-5496)TGT>TAT p.C1832Y NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1832 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) TTTGGAGTCACAGACACTAAG 0.383 PREX1 57580 broad.mit.edu 37 20 47267957 47267957 + Missense_Mutation SNP C T T TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chr20:47267957C>T uc002xtw.1 - 22 2655 c.2632G>A c.(2632-2634)GGC>AGC p.G878S PREX1_uc002xtv.1_Missense_Mutation_p.G175S NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 878 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) CCGAAGCAGCCGCGGGGCTCC 0.607 PIK3R1 5295 broad.mit.edu 37 5 67589147 67589147 + Missense_Mutation SNP A G G TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chr5:67589147A>G uc003jva.2 + 10 1695 c.1135A>G c.(1135-1137)AAA>GAA p.K379E PIK3R1_uc003jvb.2_Missense_Mutation_p.K379E|PIK3R1_uc003jvc.2_Missense_Mutation_p.K79E|PIK3R1_uc003jvd.2_Missense_Mutation_p.K109E|PIK3R1_uc003jve.2_Missense_Mutation_p.K58E|PIK3R1_uc011crb.1_Missense_Mutation_p.K49E NM_181523 NP_852664 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 379 SH2 1. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.?(1) endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1) 101 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) GGGAAATAACAAATTAATCAA 0.308 Mis|F|O gliobastoma|ovarian|colorectal TCGA GBM(4;<1E-08) ARSK 153642 broad.mit.edu 37 5 94936730 94936730 + Missense_Mutation SNP T C C TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chr5:94936730T>C uc003kld.2 + 7 1434 c.1276T>C c.(1276-1278)TAT>CAT p.Y426H ARSK_uc010jbg.2_Missense_Mutation_p.Y267H|ARSK_uc011cum.1_RNA NM_198150 NP_937793 Q6UWY0 ARSK_HUMAN arylsulfatase K precursor 426 extracellular region arylsulfatase activity|metal ion binding pancreas(1) 1 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) CCACTGGAAATATATAGCCTA 0.343 AP3S1 1176 broad.mit.edu 37 5 115202418 115202421 + Frame_Shift_Del DEL AAGA - - rs80118146 TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chr5:115202418_115202421delAAGA uc003krl.2 + 2 237_240 c.121_124delAAGA c.(121-126)AAGAGAfs p.K41fs AP3S1_uc003krk.2_Frame_Shift_Del_p.K19fs|AP3S1_uc003krm.2_Frame_Shift_Del_p.K41fs NM_001284 NP_001275 Q92572 AP3S1_HUMAN adaptor-related protein complex 3, sigma 1 41_42 insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle protein binding|protein transporter activity 0 all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245) OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05) TTTGGTATCTAAGAGAGATGAAAA 0.304 PCDHB18 54660 broad.mit.edu 37 5 140615413 140615413 + Silent SNP C G G rs3733683 by1000genomes TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chr5:140615413C>G uc003ljc.1 + 1 1476 c.1128C>G c.(1126-1128)CCC>CCG p.P376P NR_001281 SubName: Full=Similar to protocadherin-3 (Pcdh3); ovary(1) 1 TGGGGACACCCAGGCTGAAAA 0.522 MSH5 4439 broad.mit.edu 37 6 31729252 31729252 + Missense_Mutation SNP G A A TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chr6:31729252G>A uc003nwv.1 + 22 2120 c.2041G>A c.(2041-2043)GAT>AAT p.D681N MSH5_uc003nwt.1_Missense_Mutation_p.D698N|MSH5_uc003nwu.1_Missense_Mutation_p.D682N|MSH5_uc003nww.1_Missense_Mutation_p.D681N|MSH5_uc003nwx.1_Missense_Mutation_p.D699N|MSH5_uc011dof.1_Missense_Mutation_p.D380N|MSH5_uc003nwy.1_Missense_Mutation_p.D355N|MSH5_uc003nwz.3_RNA|C6orf26_uc003nxa.3_5'Flank NM_172166 NP_751898 O43196 MSH5_HUMAN mutS homolog 5 isoform c 681 chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding ovary(2)|breast(1) 3 TTTGCAGGTGGATGGGCTCGC 0.577 Direct_reversal_of_damage|MMR CD2AP 23607 broad.mit.edu 37 6 47547178 47547178 + Missense_Mutation SNP C T T TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chr6:47547178C>T uc003oyw.2 + 9 1417 c.961C>T c.(961-963)CCA>TCA p.P321S NM_012120 NP_036252 Q9Y5K6 CD2AP_HUMAN CD2-associated protein 321 SH3 3. cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle SH3 domain binding|structural constituent of cytoskeleton ovary(1)|skin(1) 2 Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138) AGGAGTATTTCCAGACAATTT 0.343 EPHA7 2045 broad.mit.edu 37 6 94120318 94120318 + Missense_Mutation SNP C T T rs41273629 byFrequency TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chr6:94120318C>T uc003poe.2 - 3 974 c.733G>A c.(733-735)GCC>ACC p.A245T EPHA7_uc003pof.2_Missense_Mutation_p.A245T|EPHA7_uc011eac.1_Missense_Mutation_p.A245T|EPHA7_uc003pog.3_Missense_Mutation_p.A245T NM_004440 NP_004431 Q15375 EPHA7_HUMAN ephrin receptor EphA7 precursor 245 Extracellular (Potential).|Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1) 28 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) ATCCTGGGGGCGTTTTCCGCT 0.483 CCDC129 223075 broad.mit.edu 37 7 31614260 31614260 + Missense_Mutation SNP T A A TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chr7:31614260T>A uc003tcj.1 + 7 1495 c.502T>A c.(502-504)TTC>ATC p.F168I CCDC129_uc011kad.1_Missense_Mutation_p.F178I|CCDC129_uc003tci.1_Missense_Mutation_p.F167I|CCDC129_uc011kae.1_Missense_Mutation_p.F194I|CCDC129_uc003tck.1_Missense_Mutation_p.F76I NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 168 0 CCCAGCCAGATTCCTTGGTTG 0.478 EGFR 1956 broad.mit.edu 37 7 55219021 55219021 + Silent SNP C T T TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chr7:55219021C>T uc003tqk.2 + 5 840 c.594C>T c.(592-594)AGC>AGT p.S198S EGFR_uc003tqh.2_Silent_p.S198S|EGFR_uc003tqi.2_Silent_p.S198S|EGFR_uc003tqj.2_Silent_p.S198S|EGFR_uc010kzg.1_Silent_p.S153S|EGFR_uc011kco.1_Silent_p.S145S|EGFR_uc003tql.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 198 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CCAATGGGAGCTGCTGGGGTG 0.493 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) EGFR 1956 broad.mit.edu 37 7 55221822 55221822 + Missense_Mutation SNP C T T rs149840192 TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chr7:55221822C>T uc003tqk.2 + 7 1112 c.866C>T c.(865-867)GCC>GTC p.A289V EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 289 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AGCTTTGGTGCCACCTGCGTG 0.592 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) SULF1 23213 broad.mit.edu 37 8 70488235 70488235 + Missense_Mutation SNP A C C TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chr8:70488235A>C uc010lza.1 + 6 920 c.203A>C c.(202-204)AAG>ACG p.K68T SULF1_uc003xyd.2_Missense_Mutation_p.K68T|SULF1_uc003xye.2_Missense_Mutation_p.K68T|SULF1_uc003xyf.2_Missense_Mutation_p.K68T|SULF1_uc003xyg.2_Missense_Mutation_p.K68T NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 68 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) AAAACGAGAAAGATTATGGAA 0.517 ZNF251 90987 broad.mit.edu 37 8 145947815 145947815 + Silent SNP G A A TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chr8:145947815G>A uc003zdv.3 - 5 1486 c.1230C>T c.(1228-1230)TGC>TGT p.C410C NM_138367 NP_612376 Q9BRH9 ZN251_HUMAN zinc finger protein 251 410 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) AGGCTCTGCCGCATTCATTAC 0.443 GABBR2 9568 broad.mit.edu 37 9 101052880 101052880 + Missense_Mutation SNP C G G TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chr9:101052880C>G uc004ays.2 - 19 2968 c.2812G>C c.(2812-2814)GTC>CTC p.V938L NM_005458 NP_005449 O75899 GABR2_HUMAN G protein-coupled receptor 51 precursor 938 Cytoplasmic (Potential). negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(2)|skin(2) 4 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) AGGCCCGAGACCATGACTCGG 0.687 FUT7 2529 broad.mit.edu 37 9 139925805 139925805 + Missense_Mutation SNP C T T TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chr9:139925805C>T uc004ckq.2 - 2 1235 c.386G>A c.(385-387)GGC>GAC p.G129D ABCA2_uc004ckm.1_5'Flank|C9orf139_uc004ckp.1_Intron NM_004479 NP_004470 Q11130 FUT7_HUMAN fucosyltransferase 7 129 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity 0 all_cancers(76;0.0893) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) GTGGCTGAGGCCGTGGGTGTG 0.711 FOXR2 139628 broad.mit.edu 37 X 55650997 55650997 + Missense_Mutation SNP C T T TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chrX:55650997C>T uc004duo.2 + 1 1165 c.853C>T c.(853-855)CGT>TGT p.R285C NM_198451 NP_940853 Q6PJQ5 FOXR2_HUMAN forkhead box R2 285 Fork-head. embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding lung(2)|central_nervous_system(1) 3 GGAGGAGACTCGTGTCTTAGC 0.502 ATRX 546 broad.mit.edu 37 X 76872118 76872118 + Missense_Mutation SNP C G G TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chrX:76872118C>G uc004ecp.3 - 22 5761 c.5529G>C c.(5527-5529)CAG>CAC p.Q1843H ATRX_uc004ecq.3_Missense_Mutation_p.Q1805H|ATRX_uc004eco.3_Missense_Mutation_p.Q1628H NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 1843 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 haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) AGAGCTTGCACTGAATAGAAG 0.328 Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome TBX22 50945 broad.mit.edu 37 X 79282295 79282295 + Silent SNP C A A TCGA-14-1456-01B-01D-1494-08 TCGA-14-1456-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx e525e774-f925-41cd-9822-15aeeee29190 e8f3b57f-a7f3-4086-8319-fa7d0761eb85 g.chrX:79282295C>A uc010nmg.1 + 6 860 c.726C>A c.(724-726)CCC>CCA p.P242P TBX22_uc004edi.1_Silent_p.P122P|TBX22_uc004edj.1_Silent_p.P242P NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 242 T-box. multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 AGTCCTTGCCCACTGAAGGTG 0.463