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 IKZF5 64376 broad.mit.edu 37 10 124755532 124755532 + Missense_Mutation SNP A A C TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr10:124755532A>C ENST00000368886.5 - 4 614 c.294T>G c.(292-294)atT>atG p.I98M PSTK_ENST00000497219.1_Intron NM_001271840.1 NP_001258769.1 Q9H5V7 IKZF5_HUMAN IKAROS family zinc finger 5 (Pegasus) 98 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|lung(3)|prostate(1) 6 all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222) Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754) TGATGTGTTCAATAAGCCGGG 0.483000 5 80 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577547 7577547 + Missense_Mutation SNP C C T rs121912656 TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr17:7577547C>T ENST00000420246.2 - 7 866 c.734G>A c.(733-735)gGc>gAc p.G245D TP53_ENST00000455263.2_Missense_Mutation_p.G245D|TP53_ENST00000445888.2_Missense_Mutation_p.G245D|TP53_ENST00000269305.4_Missense_Mutation_p.G245D|TP53_ENST00000413465.2_Missense_Mutation_p.G245D|TP53_ENST00000359597.4_Missense_Mutation_p.G245D NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 245 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (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|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.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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) CCGGTTCATGCCGCCCATGCA 0.582000 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) 4 81 0 0 1 0 0 GRIK1 2897 broad.mit.edu 37 21 31066220 31066220 + Missense_Mutation SNP C C T TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr21:31066220C>T ENST00000399914.1 - 2 802 c.281G>A c.(280-282)cGg>cAg p.R94Q GRIK1_ENST00000309434.7_Missense_Mutation_p.R94Q|GRIK1_ENST00000389124.2_Missense_Mutation_p.R94Q|GRIK1_ENST00000389125.3_Missense_Mutation_p.R94Q|GRIK1_ENST00000327783.4_Missense_Mutation_p.R94Q|GRIK1_ENST00000399913.1_Missense_Mutation_p.R94Q|GRIK1_ENST00000399907.1_Missense_Mutation_p.R94Q|GRIK1_ENST00000535441.1_Missense_Mutation_p.R94Q|GRIK1_ENST00000399909.1_Missense_Mutation_p.R94Q|GRIK1_ENST00000472429.1_5'UTR P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 94 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) GTTACCTCTCCGCGAGGCTTC 0.433000 24 52 0 0 1 0 0 KCNN3 3782 broad.mit.edu 37 1 154744824 154744824 + Missense_Mutation SNP T T C TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr1:154744824T>C ENST00000271915.3 - 3 1390 c.1075A>G c.(1075-1077)Acc>Gcc p.T359A KCNN3_ENST00000358505.2_Missense_Mutation_p.T46A|KCNN3_ENST00000361147.4_Missense_Mutation_p.T54A NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 364 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) CGCTCGTAGGTCATGGCTATC 0.592000 9 30 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1418725 1418725 + Missense_Mutation SNP G G A TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr3:1418725G>A ENST00000446702.2 + 17 2759 c.2132G>A c.(2131-2133)gGa>gAa p.G711E CNTN6_ENST00000350110.2_Missense_Mutation_p.G711E|CNTN6_ENST00000539053.1_Missense_Mutation_p.G639E Q9UQ52 CNTN6_HUMAN contactin 6 711 Fibronectin type-III 2. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) CATGGAGGTGGAGGAAGTCGG 0.398000 23 59 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155241971 155241971 + Missense_Mutation SNP G G A TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr4:155241971G>A ENST00000357232.3 - 14 3214 c.3215C>T c.(3214-3216)aCc>aTc p.T1072I NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1072 Cadherin 9. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ATACACCAGGGTTCCTATGGG 0.428000 30 56 0 0 1 0 0 GCNT4 51301 broad.mit.edu 37 5 74325284 74325284 + Silent SNP C C T TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr5:74325284C>T ENST00000322348.4 - 1 1440 c.579G>A c.(577-579)gaG>gaA p.E193E NM_016591.2 NP_057675.1 Q9P109 GCNT4_HUMAN glucosaminyl (N-acetyl) transferase 4, core 2 193 protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2) 19 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;8.44e-57) ATTCCACAGCCTCTAATTTGG 0.398000 22 62 0 0 1 0 0 WDR19 57728 broad.mit.edu 37 4 39230260 39230260 + Silent SNP G G T TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr4:39230260G>T ENST00000399820.3 + 17 2086 c.1932G>T c.(1930-1932)acG>acT p.T644T WDR19_ENST00000515631.1_3'UTR|WDR19_ENST00000288634.7_Silent_p.T484T NM_025132.3 NP_079408.3 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 644 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 TAAAAGATACGGGGCCTGACG 0.423000 6 79 2.0095e-06 2.10673e-06 1 1 0 SLC16A2 6567 broad.mit.edu 37 X 73740921 73740921 + Missense_Mutation SNP C C T TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chrX:73740921C>T ENST00000276033.5 + 2 915 c.749C>T c.(748-750)gCg>gTg p.A250V SLC16A2_ENST00000587091.1_Missense_Mutation_p.A176V P36021 MOT8_HUMAN solute carrier family 16, member 2 (thyroid hormone transporter) 176 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 21 Pyruvic acid(DB00119) ACAGCAACCGCGGGGGCTGCC 0.532000 23 14 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 31986568 31986568 + Missense_Mutation SNP C C G TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chrX:31986568C>G ENST00000357033.4 - 45 6708 c.6502G>C c.(6502-6504)Gaa>Caa p.E2168Q DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.E2164Q NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2168 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TGAATTATTTCTTCCCCAGTT 0.448000 12 26 0 0 1 0 0 CKAP5 9793 broad.mit.edu 37 11 46772926 46772926 + Silent SNP T T C TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr11:46772926T>C ENST00000529230.1 - 39 5338 c.5292A>G c.(5290-5292)ctA>ctG p.L1764L CKAP5_ENST00000415402.1_Silent_p.L1764L|CKAP5_ENST00000312055.5_Silent_p.L1704L|CKAP5_ENST00000354558.3_Silent_p.L1704L Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 1764 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 ATAAGGTGTGTAGCAGGGTCT 0.428000 37 73 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21501019 21501019 + Splice_Site SNP G G T TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr18:21501019G>T ENST00000313654.9 + 61 8284 c.e61+1 LAMA3_ENST00000587184.1_Splice_Site|LAMA3_ENST00000399516.3_Splice_Site|LAMA3_ENST00000588770.1_Splice_Site|LAMA3_ENST00000269217.6_Splice_Site NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 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) AGACCATTCGGTACACCTTTT 0.388000 9 17 5.4927e-09 5.85288e-09 1 1 0 ADAM30 11085 broad.mit.edu 37 1 120438879 120438879 + Silent SNP G G A TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr1:120438879G>A ENST00000369400.1 - 1 239 c.81C>T c.(79-81)ggC>ggT p.G27G NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 27 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) TTACATCTTCGCCAAGAGACT 0.512000 19 40 0 0 1 0 0 ZNF628 89887 broad.mit.edu 37 19 55995366 55995366 + Missense_Mutation SNP G G A TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr19:55995366G>A ENST00000598519.1 + 3 3359 c.2806G>A c.(2806-2808)Gtg>Atg p.V936M ZNF628_ENST00000391718.2_Missense_Mutation_p.V932M NM_033113.2 NP_149104.3 Q5EBL2 ZN628_HUMAN zinc finger protein 628 932 nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|lung(2) 7 Breast(117;0.155) BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193) GBM - Glioblastoma multiforme(193;0.0531) CTTGCAGAGCGTGCTGGTGCT 0.677000 6 17 0 0 1 0 0 C17orf53 78995 broad.mit.edu 37 17 42226166 42226166 + Missense_Mutation SNP C C G TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr17:42226166C>G ENST00000319977.4 + 3 1232 c.995C>G c.(994-996)tCt>tGt p.S332C C17orf53_ENST00000585683.1_Missense_Mutation_p.S332C|C17orf53_ENST00000245382.6_Missense_Mutation_p.S332C NM_001171251.1|NM_024032.3 NP_001164722.1|NP_076937.2 Q8N3J3 CQ053_HUMAN chromosome 17 open reading frame 53 332 NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(137;0.0364)|Prostate(33;0.0376) BRCA - Breast invasive adenocarcinoma(366;0.114) AGGACTAGCTCTGGATTATTT 0.517000 93 180 0 0 1 0 0 ELOVL3 83401 broad.mit.edu 37 10 103988611 103988611 + Missense_Mutation SNP C C T TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr10:103988611C>T ENST00000370005.3 + 4 636 c.415C>T c.(415-417)Cgg>Tgg p.R139W NM_152310.1 NP_689523.1 Q9HB03 ELOV3_HUMAN ELOVL fatty acid elongase 3 139 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding p.R139W(1) breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1) 16 Colorectal(252;0.207) Epithelial(162;4.47e-08)|all cancers(201;7.96e-07) CCTGCGTAAGCGGCCACTCAT 0.537000 36 91 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 148037365 148037365 + Missense_Mutation SNP G G A TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chrX:148037365G>A ENST00000370460.2 + 11 2269 c.1790G>A c.(1789-1791)cGt>cAt p.R597H AFF2_ENST00000342251.3_Missense_Mutation_p.R564H|AFF2_ENST00000286437.5_Missense_Mutation_p.R238H|AFF2_ENST00000370457.5_Missense_Mutation_p.R564H NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 597 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding p.R597H(3)|p.R238H(1) breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) GAGAAAGCCCGTCCACGGCCC 0.468000 55 23 0 0 1 0 0 KIF2C 11004 broad.mit.edu 37 1 45225999 45225999 + Missense_Mutation SNP C C T rs150935880 TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr1:45225999C>T ENST00000372217.1 + 14 1604 c.1253C>T c.(1252-1254)gCg>gTg p.A418V KIF2C_ENST00000372222.3_Missense_Mutation_p.A359V|KIF2C_ENST00000372224.4_Missense_Mutation_p.A472V|KIF2C_ENST00000372218.4_Missense_Mutation_p.A431V|RP11-269F19.2_ENST00000428791.1_RNA|RP11-269F19.2_ENST00000440985.1_RNA Q99661 KIF2C_HUMAN kinesin family member 2C 472 Kinesin-motor. blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1) 34 Acute lymphoblastic leukemia(166;0.155) CGCTCCCACGCGTGCTTCCAA 0.527000 20 49 0 0 1 0 0 PTPN9 5780 broad.mit.edu 37 15 75816566 75816566 + Missense_Mutation SNP C C T TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr15:75816566C>T ENST00000306726.2 - 3 793 c.281G>A c.(280-282)gGa>gAa p.G94E NM_002833.2 NP_002824.1 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 9 94 CRAL-TRIO. cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GGTGAATTTTCCACTGAGGAT 0.388000 3 37 0 0 1 0 0 C1ORF220 0 broad.mit.edu 37 1 178514844 178514844 + Missense_Mutation SNP C C T TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr1:178514844C>T ENST00000367636.4 + 2 568 c.230C>T c.(229-231)gCc>gTc p.A77V C1orf220_ENST00000521244.1_3'UTR|C1orf220_ENST00000319387.2_3'UTR GCTCTTTCCGCCACATCACAG 0.527000 7 79 0 0 1 0 0 SLC13A2 9058 broad.mit.edu 37 17 26818588 26818588 + Silent SNP G G A TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr17:26818588G>A ENST00000444914.3 + 5 1275 c.855G>A c.(853-855)acG>acA p.T285T SLC13A2_ENST00000545060.1_Silent_p.T193T|SLC13A2_ENST00000537681.1_Silent_p.T165T|SLC13A2_ENST00000314669.5_Silent_p.T236T NM_001145975.1 NP_001139447.1 Q13183 S13A2_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 236 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) GCATCGCCACGCTGACTGGCA 0.627000 66 93 0 0 1 0 0 PIGQ 9091 broad.mit.edu 37 16 630970 630970 + Missense_Mutation SNP C C T TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr16:630970C>T ENST00000321878.5 + 9 1688 c.1529C>T c.(1528-1530)gCg>gTg p.A510V PIGQ_ENST00000409527.2_Missense_Mutation_p.A510V|PIGQ_ENST00000026218.5_Missense_Mutation_p.A510V NM_004204.3 NP_004195.2 Q9BRB3 PIGQ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Q 510 Leu-rich. C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(780;0.00335) TACAGGCTGGCGGGTAAGTGC 0.647000 63 156 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159654482 159654482 + Missense_Mutation SNP C C T TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr6:159654482C>T ENST00000297267.9 + 11 3138 c.2938C>T c.(2938-2940)Cgt>Tgt p.R980C FNDC1_ENST00000340366.6_Missense_Mutation_p.R917C NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 980 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GTCCCCTGCTCGTCCGCCCGC 0.662000 8 24 0 0 1 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106558307 106558307 + Missense_Mutation SNP C C T TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr11:106558307C>T ENST00000526355.1 - 8 2635 c.2167G>A c.(2167-2169)Ggc>Agc p.G723S GUCY1A2_ENST00000282249.2_Missense_Mutation_p.G754S|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.G744S NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 723 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) AACATGGTGCCGATGTTGTAG 0.498000 30 73 0 0 1 0 0 HSPA8 3312 broad.mit.edu 37 11 122929413 122929413 + Missense_Mutation SNP A A C TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr11:122929413A>C ENST00000534624.1 - 7 1725 c.1449T>G c.(1447-1449)aaT>aaG p.N483K HSPA8_ENST00000227378.3_Missense_Mutation_p.N483K|HSPA8_ENST00000534319.1_Missense_Mutation_p.N247K|HSPA8_ENST00000533540.1_Missense_Mutation_p.N337K|HSPA8_ENST00000532636.1_Missense_Mutation_p.N483K|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000526110.1_Missense_Mutation_p.N464K NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 483 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TGAGTATACCATTGGCATCAA 0.453000 25 55 0 0 1 0 0 ARPP21 10777 broad.mit.edu 37 3 35763246 35763246 + Missense_Mutation SNP C C T TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr3:35763246C>T ENST00000187397.4 + 14 1601 c.1145C>T c.(1144-1146)gCg>gTg p.A382V ARPP21_ENST00000458225.1_Missense_Mutation_p.A348V|ARPP21_ENST00000444190.1_Missense_Mutation_p.A328V|ARPP21_ENST00000417925.1_Missense_Mutation_p.A348V|ARPP21_ENST00000337271.5_Missense_Mutation_p.A328V NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 382 Ser-rich. cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 ACCAAGACGGCGAGTTTTGGG 0.537000 6 29 0 0 1 0 0 RP11-296I10.6 0 broad.mit.edu 37 16 70253871 70253871 + RNA SNP A A G TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr16:70253871A>G ENST00000581050.1 - 0 1619 NR_033959.1 GTAAAGCTTCACCGAAGAGTG 0.388000 2 8 0 0 1 0 0 TAAR5 9038 broad.mit.edu 37 6 132910431 132910431 + Missense_Mutation SNP C C T TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr6:132910431C>T ENST00000258034.2 - 1 446 c.395G>A c.(394-396)cGc>cAc p.R132H NM_003967.2 NP_003958.2 O14804 TAAR5_HUMAN trace amine associated receptor 5 132 synaptic transmission integral to plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 32 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015) GGCACAGTGGCGGTCAATGGA 0.582000 33 99 0 0 1 0 0 EPHB1 2047 broad.mit.edu 37 3 134967232 134967232 + Missense_Mutation SNP G G T TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr3:134967232G>T ENST00000398015.3 + 14 2941 c.2571G>T c.(2569-2571)atG>atT p.M857I EPHB1_ENST00000493838.1_Missense_Mutation_p.M418I NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 857 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 ACCAGCTCATGCTGGACTGTT 0.577000 37 76 7.53189e-24 8.15955e-24 1 1 0 SLC24A6 0 broad.mit.edu 37 12 113758894 113758894 + Missense_Mutation SNP A A T TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr12:113758894A>T ENST00000552014.1 - 5 844 c.329T>A c.(328-330)cTg>cAg p.L110Q SLC24A6_ENST00000553238.1_5'UTR|SLC24A6_ENST00000546737.1_Missense_Mutation_p.L110Q|SLC24A6_ENST00000202831.3_Missense_Mutation_p.L110Q Q6J4K2 NCKX6_HUMAN 110 response to stimulus|sodium ion transport integral to membrane|plasma membrane calcium:cation antiporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1) 16 AATCAGAAACAGGTAGAGCAG 0.622000 20 55 0 0 1 0 0 CEP164 22897 broad.mit.edu 37 11 117241960 117241960 + Silent SNP T T C TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr11:117241960T>C ENST00000278935.3 + 9 1077 c.930T>C c.(928-930)ctT>ctC p.L310L CEP164_ENST00000533706.1_3'UTR NM_014956.4 NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 310 cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) GACCTGGTCTTCCAGAAAAAG 0.562000 51 95 0 0 1 0 0 BAI1 575 broad.mit.edu 37 8 143614732 143614732 + Missense_Mutation SNP G G A TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr8:143614732G>A ENST00000517894.1 + 25 4369 c.3475G>A c.(3475-3477)Gac>Aac p.D1159N BAI1_ENST00000323289.5_Missense_Mutation_p.D1159N O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1159 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CGCCGTCACCGACCGCCGCTC 0.657000 10 32 0 0 1 0 0 VGLL4 9686 broad.mit.edu 37 3 11744471 11744471 + Missense_Mutation SNP G G T TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr3:11744471G>T ENST00000273038.3 - 2 403 c.38C>A c.(37-39)tCt>tAt p.S13Y VGLL4_ENST00000404339.1_5'UTR NM_014667.2 NP_055482.2 Q14135 VGLL4_HUMAN vestigial like 4 (Drosophila) 13 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.S13F(1) NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111) ATGCACCAGAGATGCTGCCCT 0.373000 3 18 0.115264 0.115264 1 1 0 TUBB4A 10382 broad.mit.edu 37 19 6495508 6495508 + Missense_Mutation SNP C C G TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr19:6495508C>G ENST00000264071.2 - 4 1373 c.1002G>C c.(1000-1002)caG>caC p.Q334H TUBB4A_ENST00000540257.1_Missense_Mutation_p.Q334H P04350 TBB4_HUMAN tubulin, beta 4A class IVa 334 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity TGTTCTTGCTCTGCACGCTCA 0.667000 154 286 0 0 1 0 0 HCFC1 3054 broad.mit.edu 37 X 153222853 153222853 + Silent SNP G G A TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chrX:153222853G>A ENST00000310441.7 - 13 3231 c.2265C>T c.(2263-2265)agC>agT p.S755S HCFC1_ENST00000354233.3_Silent_p.S686S|HCFC1_ENST00000369984.4_Silent_p.S755S NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 755 Interaction with ZBTB17. cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGGGGGAGACGCTGCTGATGC 0.647000 100 46 0 0 1 0 0 GAB2 9846 broad.mit.edu 37 11 77937837 77937837 + Missense_Mutation SNP G G T TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr11:77937837G>T ENST00000361507.4 - 4 966 c.881C>A c.(880-882)aCc>aAc p.T294N GAB2_ENST00000340149.2_Missense_Mutation_p.T256N NM_080491.2 NP_536739.1 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 294 osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation cytosol|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity INTS4/GAB2(2) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) CGTCTTGAAGGTGTACACATC 0.592000 8 79 0.000274275 0.000282982 1 1 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 37 0 0 1 0 0 ITSN1 6453 broad.mit.edu 37 21 35237515 35237515 + Silent SNP C C T TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr21:35237515C>T ENST00000381318.3 + 32 4239 c.3951C>T c.(3949-3951)gaC>gaT p.D1317D ITSN1_ENST00000399367.3_Silent_p.D1312D|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Silent_p.D1317D|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Silent_p.D1312D NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 1317 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 TGATTGGAGACATCCTGAGCG 0.617000 7 26 0 0 1 0 0 CEACAM7 1087 broad.mit.edu 37 19 42192031 42192031 + Splice_Site SNP C C T TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr19:42192031C>T ENST00000006724.3 - 1 265 c.64_splice c.e1+1 p.A22_splice CEACAM7_ENST00000401731.1_Splice_Site_p.A22_splice|CEACAM7_ENST00000599715.1_Intron|CEACAM7_ENST00000338196.4_Splice_Site_p.A22_splice|CEACAM7_ENST00000602225.1_Splice_Site_p.A22_splice NM_006890.3 NP_008821.1 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion molecule 7 22 anchored to membrane|integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) CTCCCCTCACCTGTGAGCAGG 0.632000 21 49 0 0 1 0 0 ZCCHC14 23174 broad.mit.edu 37 16 87451066 87451066 + Splice_Site SNP C C G TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr16:87451066C>G ENST00000268616.4 - 8 1189 c.972_splice c.e8+1 p.K324_splice NM_015144.2 NP_055959.1 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 324 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) ACCGACATACCTTCTCCATGG 0.493000 OREG0024030 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 64 140 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56426236 56426236 + Missense_Mutation SNP T T C TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr6:56426236T>C ENST00000370754.5 - 57 14086 c.14087A>G c.(14086-14088)cAa>cGa p.Q4696R DST_ENST00000446842.2_Missense_Mutation_p.Q4192R|DST_ENST00000370788.2_Missense_Mutation_p.Q2430R|DST_ENST00000421834.2_Missense_Mutation_p.Q2430R|DST_ENST00000370769.4_Missense_Mutation_p.Q4518R|DST_ENST00000244364.6_Missense_Mutation_p.Q2104R|DST_ENST00000361203.3_Missense_Mutation_p.Q4516R|DST_ENST00000312431.6_3'UTR Q03001 DYST_HUMAN dystonin 4516 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CTGAGCCTTTTGCAATTTGGA 0.398000 4 46 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245850131 245850131 + Silent SNP G G A TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr1:245850131G>A ENST00000366518.4 + 9 2807 c.2703G>A c.(2701-2703)ctG>ctA p.L901L KIF26B_ENST00000407071.2_Silent_p.L1282L Q2KJY2 KI26B_HUMAN kinesin family member 26B 1282 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) GCTCCTGGCTGAGCGAGATGA 0.612000 12 35 0 0 1 0 0 UGT2B15 7366 broad.mit.edu 37 4 69536088 69536088 + Missense_Mutation SNP T T A TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr4:69536088T>A ENST00000338206.5 - 1 258 c.249A>T c.(247-249)aaA>aaT p.K83N NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 83 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity CCAAATAATTTTTAGTTAAAG 0.308000 31 81 0 0 1 0 0 CHRNB4 1143 broad.mit.edu 37 15 78917350 78917350 + Missense_Mutation SNP T T G TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr15:78917350T>G ENST00000412074.2 - 5 754 c.643A>C c.(643-645)Acc>Ccc p.T215P CHRNB4_ENST00000261751.3_3'UTR NM_001256567.1 NP_001243496.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 0 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 CTGTGGCTGGTTTGATGGGGT 0.572000 7 21 0 0 1 0 0 SLITRK1 114798 broad.mit.edu 37 13 84455386 84455386 + Missense_Mutation SNP C C G TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr13:84455386C>G ENST00000377084.2 - 1 1142 c.257G>C c.(256-258)aGt>aCt p.S86T NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 86 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) CATGTGCAAACTAACCGCATT 0.453000 29 44 0 0 1 0 0 TANC1 85461 broad.mit.edu 37 2 160035657 160035657 + Silent SNP C C G TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr2:160035657C>G ENST00000263635.6 + 14 2730 c.2493C>G c.(2491-2493)gcC>gcG p.A831A TANC1_ENST00000454300.1_Silent_p.A725A NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 831 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 AAAACACGGCCTTCCTGTGTG 0.537000 46 77 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3299765 3299765 + Missense_Mutation SNP G G A rs104895155 byFrequency TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr16:3299765G>A ENST00000219596.1 - 3 965 c.926C>T c.(925-927)aCg>aTg p.T309M MEFV_ENST00000541159.1_Missense_Mutation_p.T98M|MEFV_ENST00000339854.4_Missense_Mutation_p.T129M|MEFV_ENST00000536379.1_Missense_Mutation_p.T98M NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 309 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) ACTCGCAGCCGTGTCTGGTGG 0.602000 7 38 0 0 1 0 0 CAMK1 8536 broad.mit.edu 37 3 9799263 9799263 + Missense_Mutation SNP G G A TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr3:9799263G>A ENST00000256460.3 - 12 1250 c.1073C>T c.(1072-1074)cCg>cTg p.P358L OGG1_ENST00000349503.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Intron NM_003656.4 NP_003647.1 Q14012 KCC1A_HUMAN calcium/calmodulin-dependent protein kinase I 358 cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 12 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.0475) TTCTGTGCCCGGCTCCACGCA 0.692000 7 102 0 0 1 0 0 MROH5 389690 broad.mit.edu 37 8 142459777 142459778 + RNA INS - - A rs144781370 by1000genomes TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr8:142459777_142459778insA ENST00000430863.1 - 0 2629_2630 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 GCAGACAGGCCAGCAGTGTGGT 0.678 4 3 --- --- --- --- CTD-3074O7.2 0 broad.mit.edu 37 11 66326857 66326859 + RNA DEL AGT AGT - TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr11:66326857_66326859delAGT ENST00000504911.1 - 0 220 ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA CAGGAGCTCAAGTAggcggggcc 0.729 7 16 --- --- --- --- OTX2-AS1 0 broad.mit.edu 37 14 57509058 57509064 + RNA DEL TCCAAGC TCCAAGC - TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr14:57509058_57509064delTCCAAGC ENST00000554725.1 + 0 344 CCAGAAGCCTTCCAAGCTCCAAGCCCT 0.483 4 8 --- --- --- --- ARID3A 1820 broad.mit.edu 37 19 932529 932529 + Frame_Shift_Del DEL C C - TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr19:932529delC ENST00000263620.3 + 3 807 c.480delC c.(478-480)ggfs p.G160fs NM_005224.2 NP_005215.1 Q99856 ARI3A_HUMAN AT rich interactive domain 3A (BRIGHT-like) 160 cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) aggGGCTGGGCCCCCCAGGCC 0.692 6 10 --- --- --- --- MAPRE1 22919 broad.mit.edu 37 20 31421540 31421540 + Frame_Shift_Del DEL T T - TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chr20:31421540delT ENST00000375571.5 + 3 278 c.139delT c.(139-141)ttfs p.F47fs NM_012325.2 NP_036457.1 Q15691 MARE1_HUMAN microtubule-associated protein, RP/EB family, member 1 47 CH. cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule centrosome|cortical microtubule cytoskeleton|cytosol microtubule plus-end binding|protein C-terminus binding endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 GTATTGTCAGTTTATGGACAT 0.413 27 48 --- --- --- --- RPS6KA6 27330 broad.mit.edu 37 X 83411191 83411194 + Frame_Shift_Del DEL TCCT TCCT - TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ed0e60-9bf6-4407-9f9c-108672829690 50901c39-beb1-4a69-a21b-7ea825f55510 g.chrX:83411191_83411194delTCCT ENST00000262752.2 - 3 154_157 c.147_150delAGGA c.(145-150)gafs p.EG49fs RPS6KA6_ENST00000543399.1_Frame_Shift_Del_p.EG49fs NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 49 axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 CTTTAACAACTCCTTCATCCTGTA 0.358 4 8 --- --- --- ---