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 PPRC1 23082 broad.mit.edu 37 10 103899573 103899573 + Silent SNP G G A TCGA-FG-A4MT-01A-11D-A26M-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 651240cb-278a-4479-ac97-4de66ea9f10e 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr10:103899573G>A ENST00000278070.2 + 5 1347 c.1308G>A c.(1306-1308)ccG>ccA p.P436P PPRC1_ENST00000413464.2_Silent_p.P436P NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 436 Necessary for interaction with CREB1 and NRF1 and for transcriptional coactivation. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) TCGTGGAGCCGGTGGTGCCCA 0.577000 11 69 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-FG-A4MT-01A-11D-A26M-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 651240cb-278a-4479-ac97-4de66ea9f10e 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 5 39 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179481731 179481731 + Missense_Mutation SNP G G A TCGA-FG-A4MT-01A-11D-A26M-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 651240cb-278a-4479-ac97-4de66ea9f10e 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr2:179481731G>A ENST00000589042.1 - 256 48109 c.47885C>T c.(47884-47886)aCa>aTa p.T15962I TTN_ENST00000591111.1_Missense_Mutation_p.T14321I|TTN_ENST00000359218.5_Missense_Mutation_p.T7022I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T6897I|TTN_ENST00000342175.6_Missense_Mutation_p.T7089I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T13394I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14321 Fibronectin type-III 16. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TAAATCCATTGTTGGTTCAAC 0.408000 37 53 0 0 1 0 0 GABARAPL3 0 broad.mit.edu 37 15 90892293 90892293 + Missense_Mutation SNP C C T rs2589973 by1000genomes TCGA-FG-A4MT-01A-11D-A26M-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 651240cb-278a-4479-ac97-4de66ea9f10e 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr15:90892293C>T ENST00000412799.2 - 1 376 c.137G>A c.(136-138)aGg>aAg p.R46K GTACTTCCTCCTGTCCAGATC 0.493000 3 26 0 0 1 0 0 ADRBK1 156 broad.mit.edu 37 11 67050273 67050273 + Missense_Mutation SNP G G A TCGA-FG-A4MT-01A-11D-A26M-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 651240cb-278a-4479-ac97-4de66ea9f10e 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr11:67050273G>A ENST00000308595.5 + 14 1501 c.1211G>A c.(1210-1212)cGc>cAc p.R404H ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron NM_001619.3 NP_001610.2 P25098 ARBK1_HUMAN adrenergic, beta, receptor kinase 1 404 Protein kinase. activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) GAGATCGACCGCATGACGCTG 0.602000 3 26 0 0 1 0 0 OR6F1 343169 broad.mit.edu 37 1 247875306 247875306 + Nonsense_Mutation SNP C C T TCGA-FG-A4MT-01A-11D-A26M-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 651240cb-278a-4479-ac97-4de66ea9f10e 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr1:247875306C>T ENST00000302084.2 - 1 799 c.752G>A c.(751-753)tGg>tAg p.W251* RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-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) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GGACCCATACCAAATGAGCAC 0.532000 43 45 0 0 1 0 0 UBD 10537 broad.mit.edu 37 6 29523936 29523936 + Silent SNP G G T TCGA-FG-A4MT-01A-11D-A26M-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 651240cb-278a-4479-ac97-4de66ea9f10e 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr6:29523936G>T ENST00000377050.4 - 2 442 c.219C>A c.(217-219)acC>acA p.T73T GABBR1_ENST00000355973.3_3'UTR NM_006398.3 NP_006389.2 O15205 UBD_HUMAN ubiquitin D 73 Ubiquitin 1. aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process aggresome|cytoplasm|nucleus proteasome binding kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 TAAGGTGGATGGTCTTCTCTT 0.522000 4 44 0.00909568 0.00909568 1 1 0 LDLRAP1 26119 broad.mit.edu 37 1 25881422 25881422 + Missense_Mutation SNP C C A TCGA-FG-A4MT-01A-11D-A26M-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 651240cb-278a-4479-ac97-4de66ea9f10e 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr1:25881422C>A ENST00000374338.4 + 3 422 c.303C>A c.(301-303)gaC>gaA p.D101E LDLRAP1_ENST00000488127.1_3'UTR NM_015627.2 NP_056442.2 Q5SW96 ARH_HUMAN low density lipoprotein receptor adaptor protein 1 101 PID. amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1) 9 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649) TCCTGACAGACAACCTCACCA 0.557000 3 24 0.00024832 0.000256883 1 1 0 INPP4B 8821 broad.mit.edu 37 4 143191848 143191848 + Missense_Mutation SNP C C T TCGA-FG-A4MT-01A-11D-A26M-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 651240cb-278a-4479-ac97-4de66ea9f10e 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr4:143191848C>T ENST00000513000.1 - 11 1016 c.583G>A c.(583-585)Gac>Aac p.D195N INPP4B_ENST00000262992.4_Missense_Mutation_p.D195N|INPP4B_ENST00000308502.4_Missense_Mutation_p.D195N|INPP4B_ENST00000508116.1_Missense_Mutation_p.D195N|INPP4B_ENST00000509777.1_Missense_Mutation_p.D195N NM_003866.2 NP_003857.2 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 105kDa 195 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 all_hematologic(180;0.158) GTGATGTGGTCGGCTTCCCCA 0.443000 26 35 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578403 7578403 + Missense_Mutation SNP C C A TCGA-FG-A4MT-01A-11D-A26M-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 651240cb-278a-4479-ac97-4de66ea9f10e 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr17:7578403C>A ENST00000420246.2 - 5 659 c.527G>T c.(526-528)tGc>tTc p.C176F TP53_ENST00000359597.4_Missense_Mutation_p.C176F|TP53_ENST00000269305.4_Missense_Mutation_p.C176F|TP53_ENST00000445888.2_Missense_Mutation_p.C176F|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.C176F|TP53_ENST00000455263.2_Missense_Mutation_p.C176F NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 176 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. 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 sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; 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.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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) ATGGTGGGGGCAGCGCCTCAC 0.652000 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) 25 37 2.79863e-10 3.10959e-10 1 1 0 SPANXD 64648 broad.mit.edu 37 X 140785682 140785682 + Missense_Mutation SNP G G T TCGA-FG-A4MT-01A-11D-A26M-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 651240cb-278a-4479-ac97-4de66ea9f10e 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chrX:140785682G>T ENST00000370515.3 - 2 567 c.234C>A c.(232-234)aaC>aaA p.N78K NM_032417.2|NM_145665.1 NP_115793.1|NP_663698.1 SPANX family, member D breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Acute lymphoblastic leukemia(192;7.65e-05) TTTGGAGGGGGTTGATTCTGT 0.448000 10 166 3.07112e-06 3.29048e-06 1 1 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-FG-A4MT-01A-11D-A26M-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 651240cb-278a-4479-ac97-4de66ea9f10e 8c0d356e-7bf2-4c23-be12-acf5907f9be7 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 21 20 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49723596 49723596 + Missense_Mutation SNP G G A TCGA-FG-A4MT-01A-11D-A26M-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 651240cb-278a-4479-ac97-4de66ea9f10e 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr3:49723596G>A ENST00000449682.2 - 9 1407 c.1046C>T c.(1045-1047)cCc>cTc p.P349L MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 335 Kringle 3. proteolysis extracellular region serine-type endopeptidase activity p.P335L(5) NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TGAGCCGTCGGGGTTCCGGCA 0.667000 3 33 0 0 1 0 0 MPPED1 758 broad.mit.edu 37 22 43870673 43870673 + Missense_Mutation SNP A A G TCGA-FG-A4MT-01A-11D-A26M-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 651240cb-278a-4479-ac97-4de66ea9f10e 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr22:43870673A>G ENST00000417669.1 + 4 908 c.464A>G c.(463-465)gAc>gGc p.D155G MPPED1_ENST00000538182.1_Missense_Mutation_p.D188G|MPPED1_ENST00000439548.1_5'UTR|MPPED1_ENST00000414469.2_Missense_Mutation_p.D49G|MPPED1_ENST00000542779.1_Missense_Mutation_p.D155G|MPPED1_ENST00000443721.1_Missense_Mutation_p.D155G O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 155 hydrolase activity endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1) 13 all_neural(38;0.0244)|Ovarian(80;0.0694) CTGACCTTTGACCAGGAGTTC 0.552000 45 86 0 0 1 0 0 DUSP5 1847 broad.mit.edu 37 10 112269864 112269864 + Missense_Mutation SNP A A G TCGA-FG-A4MT-01A-11D-A26M-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 651240cb-278a-4479-ac97-4de66ea9f10e 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr10:112269864A>G ENST00000369583.3 + 4 1119 c.835A>G c.(835-837)Atg>Gtg p.M279V DUSP5_ENST00000468749.1_3'UTR NM_004419.3 NP_004410.3 Q16690 DUS5_HUMAN dual specificity phosphatase 5 279 Tyrosine-protein phosphatase. endoderm formation|inactivation of MAPK activity nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 13 Breast(234;0.0848) Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12) GGCTTACCTTATGAAGACCAA 0.552000 29 41 0 0 1 0 0 GUSBP1 0 broad.mit.edu 37 5 21497235 21497235 + RNA SNP C C T rs141635554 by1000genomes TCGA-FG-A4MT-01A-11D-A26M-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 651240cb-278a-4479-ac97-4de66ea9f10e 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr5:21497235C>T ENST00000607545.1 + 0 179 NR_027026.1 AGTTTGAGAACTGGTGTAAGA 0.488000 4 43 0 0 1 0 0 ZNF503 84858 broad.mit.edu 37 10 77159074 77159074 + Silent SNP C C T TCGA-FG-A4MT-01A-11D-A26M-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 651240cb-278a-4479-ac97-4de66ea9f10e 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr10:77159074C>T ENST00000372524.4 - 2 1860 c.1374G>A c.(1372-1374)gcG>gcA p.A458A ZNF503_ENST00000535216.1_Silent_p.A458A|RP11-399K21.11_ENST00000418818.2_lincRNA NM_032772.4 NP_116161.2 Q96F45 ZN503_HUMAN zinc finger protein 503 458 Ala-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding lung(4)|ovary(1)|skin(1) 6 all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088) GCGCCGCAGCCGCAGCAGCCG 0.701000 9 8 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21426422 21426422 + Missense_Mutation SNP G G A TCGA-FG-A4MT-01A-11D-A26M-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 651240cb-278a-4479-ac97-4de66ea9f10e 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr18:21426422G>A ENST00000313654.9 + 31 4122 c.3881G>A c.(3880-3882)cGg>cAg p.R1294Q LAMA3_ENST00000399516.3_Missense_Mutation_p.R1294Q NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1294 Domain III B.|Laminin EGF-like 9. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTCATCGGGCGGCAGTGCACC 0.652000 14 26 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49418711 49418711 + Missense_Mutation SNP A A G TCGA-FG-A4MT-01A-11D-A26M-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 651240cb-278a-4479-ac97-4de66ea9f10e 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr12:49418711A>G ENST00000301067.7 - 49 15802 c.15803T>C c.(15802-15804)aTt>aCt p.I5268T NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CACAGGCTCAATGATGCGATT 0.557000 6 5 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7580531 7580531 + Missense_Mutation SNP A A T TCGA-FG-A4MT-01A-11D-A26M-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 651240cb-278a-4479-ac97-4de66ea9f10e 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr6:7580531A>T ENST00000379802.3 + 23 4449 c.4108A>T c.(4108-4110)Atc>Ttc p.I1370F DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1370 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TGAGACCGAGATCAACATCAC 0.463000 40 56 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9084692 9084692 + Missense_Mutation SNP T T C TCGA-FG-A4MT-01A-11D-A26M-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 651240cb-278a-4479-ac97-4de66ea9f10e 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr19:9084692T>C ENST00000397910.4 - 1 7326 c.7123A>G c.(7123-7125)Aac>Gac p.N2375D NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2375 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATGGAGGTGTTGATCAGATCA 0.438000 8 25 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49723603 49723603 + Missense_Mutation SNP G G A TCGA-FG-A4MT-01A-11D-A26M-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 651240cb-278a-4479-ac97-4de66ea9f10e 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr3:49723603G>A ENST00000449682.2 - 9 1400 c.1039C>T c.(1039-1041)Cgg>Tgg p.R347W MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 333 Kringle 3. proteolysis extracellular region serine-type endopeptidase activity p.R333W(5) NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TCGGGGTTCCGGCAGAAGTTC 0.662000 3 34 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578412 7578412 + Missense_Mutation SNP A A G TCGA-FG-A4MT-01A-11D-A26M-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 651240cb-278a-4479-ac97-4de66ea9f10e 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr17:7578412A>G ENST00000420246.2 - 5 650 c.518T>C c.(517-519)gTg>gCg p.V173A TP53_ENST00000359597.4_Missense_Mutation_p.V173A|TP53_ENST00000269305.4_Missense_Mutation_p.V173A|TP53_ENST00000445888.2_Missense_Mutation_p.V173A|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.V173A|TP53_ENST00000455263.2_Missense_Mutation_p.V173A NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 173 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (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.V173A(12)|p.0?(8)|p.V173G(6)|p.V173fs*7(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V173E(1)|p.V41fs*7(1)|p.H168fs*69(1)|p.E171fs*1(1)|p.V172_R174delVVR(1)|p.P151_V173del23(1)|p.V173fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V173W(1)|p.S149fs*72(1)|p.V80fs*7(1)|p.V172_E180delVVRRCPHHE(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) GCAGCGCCTCACAACCTCCGT 0.662000 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) 30 31 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98508848 98508848 + Missense_Mutation SNP C C T TCGA-FG-A4MT-01A-11D-A26M-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 651240cb-278a-4479-ac97-4de66ea9f10e 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr7:98508848C>T ENST00000359863.4 + 17 2170 c.1961C>T c.(1960-1962)aCg>aTg p.T654M TRRAP_ENST00000446306.3_Missense_Mutation_p.T653M|TRRAP_ENST00000355540.3_Missense_Mutation_p.T654M NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 654 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TTCCAAACTACGGTCCCTTAT 0.368000 7 22 0 0 1 0 0 PTPRN 5798 broad.mit.edu 37 2 220173962 220173963 + Frame_Shift_Ins INS - - C TCGA-FG-A4MT-01A-11D-A26M-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 651240cb-278a-4479-ac97-4de66ea9f10e 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr2:220173962_220173963insC ENST00000295718.2 - 1 332_333 c.92_93insG c.(91-93)gtgfs p.V31fs PTPRN_ENST00000409251.3_Frame_Shift_Ins_p.V31fs NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 31 response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) CGGCGCTGCAGCCCCCCGGGCG 0.738 2 4 --- --- --- --- SDHAP1 0 broad.mit.edu 37 3 195713385 195713386 + RNA INS - - T TCGA-FG-A4MT-01A-11D-A26M-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 651240cb-278a-4479-ac97-4de66ea9f10e 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr3:195713385_195713386insT ENST00000427841.1 - 0 176 NR_003264.2 AAAGCATGAACTTACGGAATCT 0.401 3 4 --- --- --- --- PACS1 55690 broad.mit.edu 37 11 65838059 65838061 + In_Frame_Del DEL GCA GCA - rs75352646 TCGA-FG-A4MT-01A-11D-A26M-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 651240cb-278a-4479-ac97-4de66ea9f10e 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr11:65838059_65838061delGCA ENST00000320580.4 + 1 135_137 c.102_104delGCA c.(100-105)ccg>cc p.PQ34del NM_018026.3 NP_060496.2 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 34 Gly-rich. interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 agccgccgccgcagcagcagcag 0.793 2 4 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-FG-A4MT-01A-11D-A26M-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 651240cb-278a-4479-ac97-4de66ea9f10e 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 7 278 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76855014 76855017 + Frame_Shift_Del DEL CTAT CTAT - TCGA-FG-A4MT-01A-11D-A26M-08 TCGA-FG-A4MT-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 651240cb-278a-4479-ac97-4de66ea9f10e 8c0d356e-7bf2-4c23-be12-acf5907f9be7 g.chrX:76855014_76855017delCTAT ENST00000373344.5 - 25 6033_6036 c.5819_5822delATAG c.(5818-5823)gtfs p.DS1940fs ATRX_ENST00000395603.3_Frame_Shift_Del_p.DS1902fs|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1940 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.D1940fs*14(1)|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) ACTTGAGCTACTATCTTTTTTCCC 0.363 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 123 244 --- --- --- ---