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 FAT1 2195 broad.mit.edu 37 4 187524178 187524178 + Missense_Mutation SNP G G C TCGA-TM-A84T-01A-11D-A36O-08 TCGA-TM-A84T-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4017d95-80c7-4796-9a47-3d519313d062 ab62f550-4bee-40f4-8e36-2e683282cebf g.chr4:187524178G>C ENST00000441802.2 - 20 11570 c.11361C>G c.(11359-11361)tgC>tgG p.C3787W NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3787 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GGACAGGTGGGCACCTTCCCT 0.488000 HNSCC(5;0.00058) 11 29 0 0 1 0 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-TM-A84T-01A-11D-A36O-08 TCGA-TM-A84T-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4017d95-80c7-4796-9a47-3d519313d062 ab62f550-4bee-40f4-8e36-2e683282cebf g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 21 0 0 1 0 0 NPRL3 8131 broad.mit.edu 37 16 138697 138697 + Splice_Site SNP C C G TCGA-TM-A84T-01A-11D-A36O-08 TCGA-TM-A84T-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4017d95-80c7-4796-9a47-3d519313d062 ab62f550-4bee-40f4-8e36-2e683282cebf g.chr16:138697C>G ENST00000399953.3 - 13 1943 c.1541_splice c.e13+1 p.R514_splice NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Splice_Site_p.R335_splice NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1 NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1 Q12980 NPRL3_HUMAN nitrogen permease regulator-like 3 (S. cerevisiae) 515 protein binding endometrium(1)|large_intestine(3)|ovary(2) 6 CTACACCCACCTGGCAAACAT 0.597000 6 8 0 0 1 0 0 NUP188 23511 broad.mit.edu 37 9 131747270 131747270 + Missense_Mutation SNP C C T TCGA-TM-A84T-01A-11D-A36O-08 TCGA-TM-A84T-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4017d95-80c7-4796-9a47-3d519313d062 ab62f550-4bee-40f4-8e36-2e683282cebf g.chr9:131747270C>T ENST00000372577.2 + 20 2074 c.2053C>T c.(2053-2055)Cgc>Tgc p.R685C NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 685 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 TGCCTTTCTGCGCTTGATCAC 0.468000 OREG0003924 type=REGULATORY REGION|Gene=NUP188|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 16 45 0 0 1 0 0 SDCCAG8 10806 broad.mit.edu 37 1 243480092 243480092 + Missense_Mutation SNP T T G TCGA-TM-A84T-01A-11D-A36O-08 TCGA-TM-A84T-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4017d95-80c7-4796-9a47-3d519313d062 ab62f550-4bee-40f4-8e36-2e683282cebf g.chr1:243480092T>G ENST00000366541.3 + 9 1083 c.965T>G c.(964-966)gTa>gGa p.V322G SDCCAG8_ENST00000391846.1_Missense_Mutation_p.V322G|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.V177G|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.V279G NM_006642.3 NP_006633.1 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 322 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 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 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) CTAGTTTCCGTAAGGAGCAGC 0.403000 16 25 0 0 1 0 0 SKIL 6498 broad.mit.edu 37 3 170078468 170078468 + Missense_Mutation SNP T T C TCGA-TM-A84T-01A-11D-A36O-08 TCGA-TM-A84T-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4017d95-80c7-4796-9a47-3d519313d062 ab62f550-4bee-40f4-8e36-2e683282cebf g.chr3:170078468T>C ENST00000458537.3 + 1 1058 c.349T>C c.(349-351)Tcg>Ccg p.S117P SKIL_ENST00000426052.2_Missense_Mutation_p.S97P|SKIL_ENST00000259119.4_Missense_Mutation_p.S117P|SKIL_ENST00000413427.2_Missense_Mutation_p.S117P NM_001145097.2|NM_001248008.1|NM_005414.4 NP_001138569.1|NP_001234937.1|NP_005405.2 P12757 SKIL_HUMAN SKI-like oncogene 117 cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development cytoplasm|PML body chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 25 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) AGAAAGCATGTCGCCTACTGT 0.493000 42 86 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24813550 24813550 + Missense_Mutation SNP G G A rs151027148 TCGA-TM-A84T-01A-11D-A36O-08 TCGA-TM-A84T-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4017d95-80c7-4796-9a47-3d519313d062 ab62f550-4bee-40f4-8e36-2e683282cebf g.chr10:24813550G>A ENST00000376451.2 + 8 2064 c.1804G>A c.(1804-1806)Gtc>Atc p.V602I KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000396446.1_Missense_Mutation_p.V602I|KIAA1217_ENST00000307544.6_Missense_Mutation_p.V602I|KIAA1217_ENST00000376454.3_Missense_Mutation_p.V919I|KIAA1217_ENST00000396445.1_Missense_Mutation_p.V602I|KIAA1217_ENST00000376462.1_Missense_Mutation_p.V839I|KIAA1217_ENST00000458595.1_Missense_Mutation_p.V884I|KIAA1217_ENST00000376452.3_Missense_Mutation_p.V884I Q5T5P2 SKT_HUMAN KIAA1217 919 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CTCCCCAGCCGTCCCCCAGGA 0.622000 11 11 0 0 1 0 0 KRT27 342574 broad.mit.edu 37 17 38933340 38933340 + Missense_Mutation SNP G G A TCGA-TM-A84T-01A-11D-A36O-08 TCGA-TM-A84T-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4017d95-80c7-4796-9a47-3d519313d062 ab62f550-4bee-40f4-8e36-2e683282cebf g.chr17:38933340G>A ENST00000301656.3 - 8 1331 c.1291C>T c.(1291-1293)Cgt>Tgt p.R431C KRT27_ENST00000540723.1_5'UTR NM_181537.3 NP_853515.2 Q7Z3Y8 K1C27_HUMAN keratin 27 431 Tail. cytoplasm|intermediate filament structural molecule activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1) 21 Breast(137;0.000812) ACTTTGCCACGAGGATCTATC 0.383000 26 26 0 0 1 0 0 SGOL2 151246 broad.mit.edu 37 2 201435848 201435848 + Missense_Mutation SNP G G A TCGA-TM-A84T-01A-11D-A36O-08 TCGA-TM-A84T-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4017d95-80c7-4796-9a47-3d519313d062 ab62f550-4bee-40f4-8e36-2e683282cebf g.chr2:201435848G>A ENST00000357799.4 + 7 877 c.779G>A c.(778-780)cGc>cAc p.R260H NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 260 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 TCTATTGGCCGCAGATGGGAG 0.428000 3 48 0 0 1 0 0 GALNT11 63917 broad.mit.edu 37 7 151791479 151791479 + Missense_Mutation SNP A A G TCGA-TM-A84T-01A-11D-A36O-08 TCGA-TM-A84T-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4017d95-80c7-4796-9a47-3d519313d062 ab62f550-4bee-40f4-8e36-2e683282cebf g.chr7:151791479A>G ENST00000434507.1 + 4 604 c.167A>G c.(166-168)tAt>tGt p.Y56C GALNT11_ENST00000452146.2_Intron|GALNT11_ENST00000430044.2_Missense_Mutation_p.Y56C|GALNT11_ENST00000482812.1_3'UTR|GALNT11_ENST00000415421.1_Missense_Mutation_p.Y56C|GALNT11_ENST00000320311.2_Missense_Mutation_p.Y56C|GALNT11_ENST00000422997.2_Missense_Mutation_p.Y56C Q8NCW6 GLT11_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) 56 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2) 27 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.214) OV - Ovarian serous cystadenocarcinoma(82;0.00168) UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932) AAAAAATTCTATCCCCGTTTC 0.463000 29 62 0 0 1 0 0 ZNF667 63934 broad.mit.edu 37 19 56953812 56953812 + Missense_Mutation SNP G G C TCGA-TM-A84T-01A-11D-A36O-08 TCGA-TM-A84T-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4017d95-80c7-4796-9a47-3d519313d062 ab62f550-4bee-40f4-8e36-2e683282cebf g.chr19:56953812G>C ENST00000504904.3 - 7 1271 c.552C>G c.(550-552)atC>atG p.I184M ZNF667_ENST00000342634.3_Missense_Mutation_p.I312M|ZNF667_ENST00000292069.6_Missense_Mutation_p.I184M|ZNF667_ENST00000591790.1_3'UTR Q5HYK9 ZN667_HUMAN zinc finger protein 667 184 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) GGATGGATGAGATCTGTCTGA 0.373000 3 38 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-TM-A84T-01A-11D-A36O-08 TCGA-TM-A84T-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4017d95-80c7-4796-9a47-3d519313d062 ab62f550-4bee-40f4-8e36-2e683282cebf g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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 23 43 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-TM-A84T-01A-11D-A36O-08 TCGA-TM-A84T-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4017d95-80c7-4796-9a47-3d519313d062 ab62f550-4bee-40f4-8e36-2e683282cebf g.chr17:7577121G>A ENST00000420246.2 - 8 949 c.817C>T c.(817-819)Cgt>Tgt p.R273C TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) GCACAAACACGCACCTCAAAG 0.542000 R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID) 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) 13 1 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656574 40656574 + Missense_Mutation SNP G G C TCGA-TM-A84T-01A-11D-A36O-08 TCGA-TM-A84T-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4017d95-80c7-4796-9a47-3d519313d062 ab62f550-4bee-40f4-8e36-2e683282cebf g.chr2:40656574G>C ENST00000406785.1 - 2 1036 c.847C>G c.(847-849)Cca>Gca p.P283A SLC8A1_ENST00000542756.1_Missense_Mutation_p.P283A|SLC8A1_ENST00000405269.1_Missense_Mutation_p.P283A|SLC8A1_ENST00000402441.1_Missense_Mutation_p.P283A|SLC8A1_ENST00000405901.3_Missense_Mutation_p.P283A|SLC8A1_ENST00000403092.1_Missense_Mutation_p.P283A|SLC8A1_ENST00000332839.4_Missense_Mutation_p.P283A|SLC8A1_ENST00000408028.2_Missense_Mutation_p.P283A|SLC8A1_ENST00000542024.1_Missense_Mutation_p.P283A|SLC8A1_ENST00000406391.2_Missense_Mutation_p.P283A P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 283 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TTAGAAGATGGCCTGTCTCCT 0.443000 66 86 0 0 1 0 0 ANLN 54443 broad.mit.edu 37 7 36462337 36462337 + Missense_Mutation SNP C C T TCGA-TM-A84T-01A-11D-A36O-08 TCGA-TM-A84T-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4017d95-80c7-4796-9a47-3d519313d062 ab62f550-4bee-40f4-8e36-2e683282cebf g.chr7:36462337C>T ENST00000265748.2 + 14 2616 c.2395C>T c.(2395-2397)Cca>Tca p.P799S ANLN_ENST00000396068.2_Missense_Mutation_p.P762S NM_018685.2 NP_061155.2 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 799 Localization to the cleavage furrow. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 TGAATTTATGCCATCCAAAGG 0.403000 5 114 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910693 29910693 + Missense_Mutation SNP A A G rs41559716 by1000genomes TCGA-TM-A84T-01A-11D-A36O-08 TCGA-TM-A84T-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4017d95-80c7-4796-9a47-3d519313d062 ab62f550-4bee-40f4-8e36-2e683282cebf g.chr6:29910693A>G ENST00000396634.1 + 4 574 c.233A>G c.(232-234)cAg>cGg p.Q78R HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R P30443 1A01_HUMAN major histocompatibility complex, class I, A 78 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.Q78R(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TGGATAGAGCAGGAGGGGCCG 0.657000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 4 12 0 0 1 0 0 TGM5 9333 broad.mit.edu 37 15 43545071 43545071 + Missense_Mutation SNP C C T rs113766373 TCGA-TM-A84T-01A-11D-A36O-08 TCGA-TM-A84T-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4017d95-80c7-4796-9a47-3d519313d062 ab62f550-4bee-40f4-8e36-2e683282cebf g.chr15:43545071C>T ENST00000220420.5 - 6 755 c.748G>A c.(748-750)Gcc>Acc p.A250T TGM5_ENST00000349114.4_Missense_Mutation_p.A168T NM_201631.3 NP_963925.2 O43548 TGM5_HUMAN transglutaminase 5 250 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) GCAGGGTTGGCGCCGTCTGTG 0.547000 27 24 0 0 1 0 0 SGOL2 151246 broad.mit.edu 37 2 201437991 201437991 + Silent SNP T T C TCGA-TM-A84T-01A-11D-A36O-08 TCGA-TM-A84T-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4017d95-80c7-4796-9a47-3d519313d062 ab62f550-4bee-40f4-8e36-2e683282cebf g.chr2:201437991T>C ENST00000357799.4 + 7 3020 c.2922T>C c.(2920-2922)gaT>gaC p.D974D NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 974 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 AAAGTTGTGATCAAATTTTAG 0.284000 4 53 0 0 1 0 0 OR2C3 81472 broad.mit.edu 37 1 247695157 247695157 + Silent SNP G G A TCGA-TM-A84T-01A-11D-A36O-08 TCGA-TM-A84T-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4017d95-80c7-4796-9a47-3d519313d062 ab62f550-4bee-40f4-8e36-2e683282cebf g.chr1:247695157G>A ENST00000366487.3 - 2 1018 c.657C>T c.(655-657)taC>taT p.Y219Y GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron NM_198074.4 NP_932340.3 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, member 3 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) CAATGTGGCCGTAAGAGACCA 0.542000 15 14 0 0 1 0 0 HCCS 3052 broad.mit.edu 37 X 11139866 11139866 + Missense_Mutation SNP C C T TCGA-TM-A84T-01A-11D-A36O-08 TCGA-TM-A84T-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4017d95-80c7-4796-9a47-3d519313d062 ab62f550-4bee-40f4-8e36-2e683282cebf g.chrX:11139866C>T ENST00000321143.4 + 7 945 c.743C>T c.(742-744)gCc>gTc p.A248V ARHGAP6_ENST00000534860.1_Intron|HCCS_ENST00000380763.3_Missense_Mutation_p.A248V|HCCS_ENST00000380762.4_Missense_Mutation_p.A248V NM_001122608.2|NM_001171991.2|NM_005333.4 NP_001116080.1|NP_001165462.1|NP_005324.3 P53701 CCHL_HUMAN holocytochrome c synthase 248 organ morphogenesis|oxidation-reduction process mitochondrial inner membrane holocytochrome-c synthase activity|metal ion binding kidney(1)|large_intestine(3)|lung(3) 7 GTCCGTCCTGCCTTAGATTCA 0.428000 12 15 0 0 1 0 0 ZNF335 63925 broad.mit.edu 37 20 44577646 44577646 + Silent SNP T T C TCGA-TM-A84T-01A-11D-A36O-08 TCGA-TM-A84T-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4017d95-80c7-4796-9a47-3d519313d062 ab62f550-4bee-40f4-8e36-2e683282cebf g.chr20:44577646T>C ENST00000322927.2 - 28 4075 c.3975A>G c.(3973-3975)caA>caG p.Q1325Q ZNF335_ENST00000426788.1_Silent_p.Q1170Q NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 1325 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) GCTGCAGCTGTTGAATGTGTT 0.602000 10 12 0 0 1 0 0 TLR7 51284 broad.mit.edu 37 X 12905884 12905884 + Missense_Mutation SNP G G C TCGA-TM-A84T-01A-11D-A36O-08 TCGA-TM-A84T-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4017d95-80c7-4796-9a47-3d519313d062 ab62f550-4bee-40f4-8e36-2e683282cebf g.chrX:12905884G>C ENST00000380659.3 + 3 2396 c.2257G>C c.(2257-2259)Gat>Cat p.D753H NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 753 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) GCGATATCTGGATCTCAGCTC 0.388000 41 6 0 0 1 0 0 THUMPD1 55623 broad.mit.edu 37 16 20748258 20748258 + Missense_Mutation SNP C C G TCGA-TM-A84T-01A-11D-A36O-08 TCGA-TM-A84T-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4017d95-80c7-4796-9a47-3d519313d062 ab62f550-4bee-40f4-8e36-2e683282cebf g.chr16:20748258C>G ENST00000381337.2 - 4 1350 c.1006G>C c.(1006-1008)Gaa>Caa p.E336Q THUMPD1_ENST00000431224.2_Missense_Mutation_p.E422Q|THUMPD1_ENST00000396083.2_Missense_Mutation_p.E336Q NM_017736.3 NP_060206.2 Q9NXG2 THUM1_HUMAN THUMP domain containing 1 336 NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1) 12 CTTGCAAGTTCAGGTTTGGCT 0.468000 27 47 0 0 1 0 0 VWA9 81556 broad.mit.edu 37 15 65885872 65885872 + Nonsense_Mutation SNP C C A TCGA-TM-A84T-01A-11D-A36O-08 TCGA-TM-A84T-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4017d95-80c7-4796-9a47-3d519313d062 ab62f550-4bee-40f4-8e36-2e683282cebf g.chr15:65885872C>A ENST00000395644.4 - 8 1215 c.880G>T c.(880-882)Gaa>Taa p.E294* VWA9_ENST00000313182.2_Nonsense_Mutation_p.E294*|VWA9_ENST00000420799.2_Nonsense_Mutation_p.E237*|VWA9_ENST00000442903.3_Nonsense_Mutation_p.E258*|VWA9_ENST00000569491.1_Nonsense_Mutation_p.E244*|VWA9_ENST00000431261.2_Nonsense_Mutation_p.E215*|VWA9_ENST00000567744.1_Nonsense_Mutation_p.E330* von Willebrand factor A domain containing 9 TTTTCATCTTCATTGTCATCA 0.418000 24 40 3.28513e-13 3.40245e-13 1 1 0 TIAM1 7074 broad.mit.edu 37 21 32638783 32638783 + Missense_Mutation SNP C C T TCGA-TM-A84T-01A-11D-A36O-08 TCGA-TM-A84T-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4017d95-80c7-4796-9a47-3d519313d062 ab62f550-4bee-40f4-8e36-2e683282cebf g.chr21:32638783C>T ENST00000286827.3 - 5 977 c.506G>A c.(505-507)cGc>cAc p.R169H TIAM1_ENST00000541036.1_Missense_Mutation_p.R169H|TIAM1_ENST00000469412.1_Intron NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 169 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 AGATTTGGAGCGTTTCTTCTT 0.502000 32 54 0 0 1 0 0 MAP1B 4131 broad.mit.edu 37 5 71493288 71493288 + Missense_Mutation SNP A A G TCGA-TM-A84T-01A-11D-A36O-08 TCGA-TM-A84T-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4017d95-80c7-4796-9a47-3d519313d062 ab62f550-4bee-40f4-8e36-2e683282cebf g.chr5:71493288A>G ENST00000296755.7 + 5 4404 c.4106A>G c.(4105-4107)aAa>aGa p.K1369R NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1369 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) AGTGATGCCAAAGATGAGAAT 0.463000 25 31 0 0 1 0 0 CCT6P3 0 broad.mit.edu 37 7 64528813 64528814 + RNA INS - - T TCGA-TM-A84T-01A-11D-A36O-08 TCGA-TM-A84T-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4017d95-80c7-4796-9a47-3d519313d062 ab62f550-4bee-40f4-8e36-2e683282cebf g.chr7:64528813_64528814insT ENST00000426828.1 + 0 621 NR_033416.1 CTTTCTGTAACTTTTTTTTTTT 0.317 4 7 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-TM-A84T-01A-11D-A36O-08 TCGA-TM-A84T-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4017d95-80c7-4796-9a47-3d519313d062 ab62f550-4bee-40f4-8e36-2e683282cebf g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 2 4 --- --- --- --- SRRM2 23524 broad.mit.edu 37 16 2820625 2820625 + Frame_Shift_Del DEL C C - TCGA-TM-A84T-01A-11D-A36O-08 TCGA-TM-A84T-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4017d95-80c7-4796-9a47-3d519313d062 ab62f550-4bee-40f4-8e36-2e683282cebf g.chr16:2820625delC ENST00000301740.8 + 14 8705 c.8156delC c.(8155-8157)tcfs p.S2719fs NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 2719 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 GAGCGGGGTTCCCGGAGAGGC 0.647 2 4 --- --- --- --- HELZ2 85441 broad.mit.edu 37 20 62193250 62193251 + Frame_Shift_Ins INS - - G TCGA-TM-A84T-01A-11D-A36O-08 TCGA-TM-A84T-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4017d95-80c7-4796-9a47-3d519313d062 ab62f550-4bee-40f4-8e36-2e683282cebf g.chr20:62193250_62193251insG ENST00000467148.1 - 11 6685_6686 c.6616_6617insC c.(6616-6618)tggfs p.W2206fs HELZ2_ENST00000427522.2_Frame_Shift_Ins_p.W1637fs NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator CTTCTCCCCACGGGGGGGGCCT 0.649 3 5 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76937603 76937603 + Frame_Shift_Del DEL T T - TCGA-TM-A84T-01A-11D-A36O-08 TCGA-TM-A84T-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4017d95-80c7-4796-9a47-3d519313d062 ab62f550-4bee-40f4-8e36-2e683282cebf g.chrX:76937603delT ENST00000373344.5 - 9 3359 c.3145delA c.(3145-3147)tafs p.I1049fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.I1011fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1049 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) TTATCTCTTATTTTTTTACTT 0.328 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 68 25 --- --- --- ---