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 NFATC2 4773 broad.mit.edu 37 20 50090571 50090571 + Missense_Mutation SNP C C G TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr20:50090571C>G ENST00000371564.3 - 5 1873 c.1654G>C c.(1654-1656)Gag>Cag p.E552Q NFATC2_ENST00000414705.1_Missense_Mutation_p.E532Q|NFATC2_ENST00000396009.3_Missense_Mutation_p.E552Q NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 552 RHD. B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) CCACTGGACTCTGGGATGTGA 0.537000 21 83 0 0 1 0 0 ST3GAL6 10402 broad.mit.edu 37 3 98510706 98510706 + Missense_Mutation SNP G G A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr3:98510706G>A ENST00000265261.6 + 9 846 c.424G>A c.(424-426)Gga>Aga p.G142R ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000394162.1_Missense_Mutation_p.G260R|ST3GAL6_ENST00000483910.1_Missense_Mutation_p.G260R NM_001271147.1 NP_001258076.1 Q9Y274 SIA10_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 6 260 amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation integral to Golgi membrane sialyltransferase activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1) 19 CCCAACAACAGGAATTATTGC 0.388000 4 207 0 0 1 0 0 NYAP2 57624 broad.mit.edu 37 2 226273793 226273793 + Missense_Mutation SNP G G A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr2:226273793G>A ENST00000272907.6 + 2 610 c.197G>A c.(196-198)cGa>cAa p.R66Q NYAP2_ENST00000409269.2_Missense_Mutation_p.R66Q NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 66 GAAAAACGCCGAAGACAAGAA 0.368000 11 17 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16890496 16890496 + Missense_Mutation SNP G G C TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr1:16890496G>C ENST00000430580.2 - 29 4249 c.3362C>G c.(3361-3363)aCt>aGt p.T1121S NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 0 NBPF 8.|Poly-Arg. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCCCATCAAAGTAAGAAACCT 0.473000 47 895 0 0 1 0 0 OR1L8 138881 broad.mit.edu 37 9 125330260 125330260 + Missense_Mutation SNP C C A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr9:125330260C>A ENST00000304865.2 - 1 578 c.497G>T c.(496-498)cGt>cTt p.R166L NM_001004454.1 NP_001004454.1 Q8NGR8 OR1L8_HUMAN olfactory receptor, family 1, subfamily L, member 8 166 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 GAAGGTGAGACGATTCAGCAG 0.498000 21 73 0.000175454 0.000179296 1 1 0 KIAA0513 9764 broad.mit.edu 37 16 85121917 85121917 + Missense_Mutation SNP A A G TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr16:85121917A>G ENST00000566428.1 + 13 1853 c.1222A>G c.(1222-1224)Atg>Gtg p.M408V KIAA0513_ENST00000258180.3_Missense_Mutation_p.M408V|KIAA0513_ENST00000538274.1_Missense_Mutation_p.M398V O60268 K0513_HUMAN KIAA0513 408 cytoplasm breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.234) CATTGAGCAAATGGCCACTGA 0.562000 16 73 0 0 1 0 0 LDLRAP1 26119 broad.mit.edu 37 1 25883713 25883713 + Missense_Mutation SNP C C A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr1:25883713C>A ENST00000374338.4 + 4 533 c.414C>A c.(412-414)aaC>aaA p.N138K LDLRAP1_ENST00000488127.1_3'UTR NM_015627.2 NP_056442.2 Q5SW96 ARH_HUMAN low density lipoprotein receptor adaptor protein 1 138 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) GCCAGCACAACCAGAGCCTCG 0.602000 30 82 1.61788e-16 1.78349e-16 1 1 0 GPT2 84706 broad.mit.edu 37 16 46952615 46952615 + Missense_Mutation SNP C C A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr16:46952615C>A ENST00000440783.2 + 8 1348 c.683C>A c.(682-684)tCc>tAc p.S228Y GPT2_ENST00000340124.4_Missense_Mutation_p.S328Y NM_001142466.1 NP_001135938.1 Q8TD30 ALAT2_HUMAN glutamic pyruvate transaminase (alanine aminotransferase) 2 328 2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process mitochondrial matrix L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CCCGAGTACTCCAGCAACGTG 0.617000 41 157 1.96642e-18 2.22015e-18 1 1 0 RWDD3 25950 broad.mit.edu 37 1 95709957 95709957 + Silent SNP G G A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr1:95709957G>A ENST00000429514.2 + 3 437 c.231G>A c.(229-231)gaG>gaA p.E77E RWDD3_ENST00000495272.1_3'UTR|RWDD3_ENST00000370202.4_Silent_p.E92E|RP11-57H12.6_ENST00000604534.1_3'UTR|RP11-57H12.5_ENST00000444665.1_RNA|RWDD3_ENST00000263893.6_Silent_p.E92E Q9Y3V2 RWDD3_HUMAN RWD domain containing 3 92 RWD. cytoplasm|nucleus protein binding kidney(1)|large_intestine(2)|lung(6)|ovary(1) 10 all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769) all cancers(265;0.112)|Epithelial(280;0.229) AGCAAGCAGAGAGCCTTTTGT 0.468000 23 67 0 0 1 0 0 RC3H2 54542 broad.mit.edu 37 9 125618102 125618102 + Missense_Mutation SNP G G A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr9:125618102G>A ENST00000373670.1 - 13 3110 c.2510C>T c.(2509-2511)tCt>tTt p.S837F RC3H2_ENST00000357244.2_Missense_Mutation_p.S837F|RC3H2_ENST00000423239.2_Missense_Mutation_p.S837F Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type domains 2 837 cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 AGACCAGGGAGAATAATGGGA 0.353000 22 56 0 0 1 0 0 ZNF702P 79986 broad.mit.edu 37 19 53472914 53472914 + RNA SNP A A G TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr19:53472914A>G ENST00000600068.1 - 0 489 ZNF702P_ENST00000270443.4_RNA TTTGATTTTCAATTAAAAACC 0.338000 3 20 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578530 7578530 + Missense_Mutation SNP A A C TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr17:7578530A>C ENST00000420246.2 - 5 532 c.400T>G c.(400-402)Ttt>Gtt p.F134V TP53_ENST00000413465.2_Missense_Mutation_p.F134V|TP53_ENST00000269305.4_Missense_Mutation_p.F134V|TP53_ENST00000455263.2_Missense_Mutation_p.F134V|TP53_ENST00000445888.2_Missense_Mutation_p.F134V|TP53_ENST00000359597.4_Missense_Mutation_p.F134V NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 134 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (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.F134L(16)|p.F134V(12)|p.0?(8)|p.C135fs*35(5)|p.M133fs*36(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.F2V(1)|p.F41V(1)|p.S127fs*36(1)|p.?(1)|p.Y126fs*11(1)|p.F134fs*39(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.F41L(1)|p.F2L(1)|p.M133fs*13(1)|p.M40fs*36(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) AGTTGGCAAAACATCTTGTTG 0.567000 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) 34 32 0 0 1 0 0 MSC 9242 broad.mit.edu 37 8 72756257 72756257 + Missense_Mutation SNP C C T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr8:72756257C>T ENST00000325509.4 - 1 446 c.157G>A c.(157-159)Gac>Aac p.D53N RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron NM_005098.3 NP_005089.2 O60682 MUSC_HUMAN musculin 53 Glu-rich (acidic). transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2) 26 Breast(64;0.176) Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203) TCCTCGCCGTCGGGGTCCTCC 0.736000 OREG0018826 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 11 0 0 1 0 0 CMIP 80790 broad.mit.edu 37 16 81733384 81733384 + Missense_Mutation SNP G G C TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr16:81733384G>C ENST00000537098.3 + 15 1805 c.1733G>C c.(1732-1734)aGg>aCg p.R578T CMIP_ENST00000398040.4_Missense_Mutation_p.R425T|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Missense_Mutation_p.R484T NM_198390.2 NP_938204.2 Q8IY22 CMIP_HUMAN c-Maf inducing protein 544 cytoplasm|nucleus endometrium(5)|kidney(1)|lung(7) 13 CTGGCACTGAGGGGGAACCAG 0.597000 8 39 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr3:178936091G>A ENST00000263967.3 + 10 1790 c.1633G>A c.(1633-1635)Gag>Aag p.E545K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 545 PI3K helical. E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(881)|p.E545Q(18) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353000 E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 28 25 0 0 1 0 0 MDH2 4191 broad.mit.edu 37 7 75695628 75695628 + Missense_Mutation SNP G G A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr7:75695628G>A ENST00000315758.5 + 9 1011 c.917G>A c.(916-918)gGc>gAc p.G306D MDH2_ENST00000432020.2_Missense_Mutation_p.G264D|MDH2_ENST00000443006.1_Missense_Mutation_p.G199D NM_005918.2 NP_005909.2 P40926 MDHM_HUMAN malate dehydrogenase 2, NAD (mitochondrial) 306 gluconeogenesis|malate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus|plasma membrane binding|L-malate dehydrogenase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2) 14 NADH(DB00157) CTGGGCATCGGCAAAGTCTCC 0.493000 4 84 0 0 1 0 0 ADAM30 11085 broad.mit.edu 37 1 120437244 120437244 + Silent SNP C C A rs145951922 byFrequency TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr1:120437244C>A ENST00000369400.1 - 1 1874 c.1716G>T c.(1714-1716)acG>acT p.T572T NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 572 Cys-rich. 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) AAATTATAGTCGTATGCTCTG 0.398000 4 187 1 1 1 1 0 DDR1 780 broad.mit.edu 37 6 30866962 30866962 + Silent SNP G G A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr6:30866962G>A ENST00000324771.8 + 20 3179 c.2631G>A c.(2629-2631)ccG>ccA p.P877P DDR1_ENST00000454612.2_Silent_p.P840P|DDR1_ENST00000418800.2_Silent_p.P840P|DDR1_ENST00000513240.1_Silent_p.P883P|DDR1_ENST00000376570.4_Silent_p.P840P|DDR1_ENST00000376569.3_Silent_p.P840P|DDR1_ENST00000376575.3_Silent_p.P883P|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000508312.1_Silent_p.P858P|DDR1_ENST00000376568.3_Silent_p.P877P|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000452441.1_Silent_p.P877P|DDR1_ENST00000376567.2_Silent_p.P840P Q08345 DDR1_HUMAN discoidin domain receptor tyrosine kinase 1 877 Protein kinase. cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1) 29 Imatinib(DB00619) CTGCCTGCCCGCAGGGCCTAT 0.577000 32 153 0 0 1 0 0 CLDN22 53842 broad.mit.edu 37 4 184241063 184241063 + Missense_Mutation SNP G G C TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr4:184241063G>C ENST00000323319.5 - 1 864 c.309C>G c.(307-309)gaC>gaG p.D103E WWC2_ENST00000403733.3_3'UTR NM_001111319.1 NP_001104789.1 Q8N7P3 CLD22_HUMAN claudin 22 103 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1) 7 all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176) all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) TTCTCAAACAGTCCAGGCCAA 0.552000 9 31 0 0 1 0 0 ZNF594 84622 broad.mit.edu 37 17 5085765 5085765 + Missense_Mutation SNP T T C TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr17:5085765T>C ENST00000399604.4 - 1 1927 c.1787A>G c.(1786-1788)tAt>tGt p.Y596C ZNF594_ENST00000575779.1_Missense_Mutation_p.Y596C Q96JF6 ZN594_HUMAN zinc finger protein 594 596 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TTTGCATTCATATGGTTTCTC 0.418000 20 206 0 0 1 0 0 CHST5 23563 broad.mit.edu 37 16 75563775 75563775 + Missense_Mutation SNP C C T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr16:75563775C>T ENST00000336257.3 - 3 1902 c.508G>A c.(508-510)Gta>Ata p.V170I RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.V176I NM_024533.4 NP_078809.2 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 170 N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2) 24 GTCTTGCATACGTCCTGCTTG 0.652000 83 295 0 0 1 0 0 DNAJC25 548645 broad.mit.edu 37 9 114411821 114411821 + Missense_Mutation SNP A A T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr9:114411821A>T ENST00000313525.3 + 3 634 c.578A>T c.(577-579)aAg>aTg p.K193M DNAJC25-GNG10_ENST00000374294.3_Intron|DNAJC25_ENST00000556107.1_Intron NM_001015882.2 NP_001015882.2 Q9H1X3 DJC25_HUMAN DnaJ (Hsp40) homolog, subfamily C , member 25 193 protein folding integral to membrane heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(2)|lung(1)|skin(4) 8 GAGATTGCCAAGCAGCAGGGA 0.403000 8 30 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187628173 187628173 + Nonsense_Mutation SNP G G A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr4:187628173G>A ENST00000441802.2 - 2 3018 c.2809C>T c.(2809-2811)Cga>Tga p.R937* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 937 Cadherin 8. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 AGATCCTCTCGGACTTTCACA 0.468000 HNSCC(5;0.00058) 113 170 0 0 1 0 0 PBLD 64081 broad.mit.edu 37 10 70045128 70045128 + Missense_Mutation SNP T T A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr10:70045128T>A ENST00000358769.2 - 9 933 c.731A>T c.(730-732)cAt>cTt p.H244L PBLD_ENST00000495025.1_5'UTR|PBLD_ENST00000309049.4_Missense_Mutation_p.H244L|PBLD_ENST00000336578.1_Missense_Mutation_p.H211L|PBLD_ENST00000432941.1_Missense_Mutation_p.H244L NM_022129.3 NP_071412.2 P30039 PBLD_HUMAN phenazine biosynthesis-like protein domain containing 244 biosynthetic process isomerase activity endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 21 CTTCCCCAGATGCTGGGACCA 0.433000 30 125 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119204767 119204767 + Missense_Mutation SNP G G A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr9:119204767G>A ENST00000313400.4 - 21 3663 c.3563C>T c.(3562-3564)aCg>aTg p.T1188M ASTN2_ENST00000361477.3_Missense_Mutation_p.T240M|ASTN2_ENST00000361209.2_Missense_Mutation_p.T1137M|ASTN2_ENST00000373996.3_Missense_Mutation_p.T1184M|ASTN2_ENST00000288520.5_Missense_Mutation_p.T289M|ASTN2_ENST00000341734.4_Missense_Mutation_p.T240M O75129 ASTN2_HUMAN astrotactin 2 1188 Fibronectin type-III. integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 TGGACAGGCCGTCCTCAGGGT 0.512000 16 109 0 0 1 0 0 EML2 24139 broad.mit.edu 37 19 46117912 46117912 + Silent SNP C C T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr19:46117912C>T ENST00000536630.1 - 20 2223 c.2085G>A c.(2083-2085)agG>agA p.R695R EML2_ENST00000587152.1_Silent_p.R749R|EML2_ENST00000245925.3_Silent_p.R548R|EML2_ENST00000589876.1_Silent_p.R548R NM_001193269.1 NP_001180198.1 O95834 EMAL2_HUMAN echinoderm microtubule associated protein like 2 548 sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1) 31 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) ATTCCATGTTCCTCACAGCAT 0.522000 32 167 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9059462 9059462 + Silent SNP A A T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr19:9059462A>T ENST00000397910.4 - 3 28187 c.27984T>A c.(27982-27984)tcT>tcA p.S9328S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9330 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 ATGTTCTGCTAGAAGAGATGG 0.493000 70 128 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100350033 100350033 + RNA SNP T T C TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr7:100350033T>C ENST00000542585.1 + 0 2453 ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACCCACCATCTCCCCAGAAAA 0.522000 8 150 0 0 1 0 0 GOLGA4 2803 broad.mit.edu 37 3 37365649 37365649 + Missense_Mutation SNP A A G TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr3:37365649A>G ENST00000361924.2 + 14 2646 c.2272A>G c.(2272-2274)Att>Gtt p.I758V GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.I780V NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 758 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 AAAAGATCAAATTAATCAACT 0.383000 13 64 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147183111 147183111 + Nonsense_Mutation SNP C C G TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr7:147183111C>G ENST00000361727.3 + 11 2271 c.1755C>G c.(1753-1755)taC>taG p.Y585* NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 585 EGF-like 1. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) AGACAGGATACAGTGGGGCCA 0.468000 HNSCC(39;0.1) 7 78 0 0 1 0 0 AMPH 273 broad.mit.edu 37 7 38424508 38424508 + Missense_Mutation SNP C C T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr7:38424508C>T ENST00000356264.2 - 21 2214 c.1999G>A c.(1999-2001)Gga>Aga p.G667R AMPH_ENST00000428293.2_Missense_Mutation_p.G625R|AMPH_ENST00000325590.5_Missense_Mutation_p.G625R NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 667 SH3. endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 TCCTTCACTCCCACCAGCCAG 0.458000 17 76 0 0 1 0 0 HSPB3 8988 broad.mit.edu 37 5 53751746 53751746 + Missense_Mutation SNP G G T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr5:53751746G>T ENST00000302005.1 + 1 302 c.127G>T c.(127-129)Gtg>Ttg p.V43L NM_006308.2 NP_006299.1 Q12988 HSPB3_HUMAN heat shock 27kDa protein 3 43 cell death|response to heat|response to unfolded protein cytoplasm|nucleus breast(1)|large_intestine(4)|prostate(3) 8 Lung NSC(810;0.00104) GCCAACCATCGTGGACCTGAG 0.552000 8 82 5.18039e-06 5.37226e-06 1 1 0 FRMPD2 143162 broad.mit.edu 37 10 49393657 49393657 + Silent SNP T T A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr10:49393657T>A ENST00000374201.3 - 18 2600 c.2298A>T c.(2296-2298)atA>atT p.I766I FRMPD2_ENST00000305531.3_Silent_p.I741I|FRMPD2_ENST00000407470.4_Silent_p.I734I NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 766 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) CCGGTTCAGCTATAAAGCTCT 0.473000 22 67 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98762697 98762697 + Silent SNP G G A rs148583876 TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr10:98762697G>A ENST00000266058.4 - 35 4163 c.3918C>T c.(3916-3918)aaC>aaT p.N1306N SLIT1_ENST00000371070.4_Silent_p.N1306N|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 1306 Laminin G-like. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) AGCCGGTGCCGTTGAGGATCT 0.607000 69 232 0 0 1 0 0 TRIM7 81786 broad.mit.edu 37 5 180627055 180627055 + Silent SNP C C T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr5:180627055C>T ENST00000393315.1 - 3 718 c.21G>A c.(19-21)aaG>aaA p.K7K TRIM7_ENST00000393319.3_Silent_p.K33K|TRIM7_ENST00000274773.7_Silent_p.K215K|CTC-338M12.6_ENST00000511517.1_RNA|TRIM7_ENST00000422067.2_Silent_p.K7K|CTC-338M12.6_ENST00000509080.1_RNA|CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000361809.3_Silent_p.K7K|CTC-338M12.6_ENST00000419707.2_RNA NM_203296.1 NP_976041.1 Q9C029 TRIM7_HUMAN tripartite motif containing 7 215 cytoplasm|nucleus zinc ion binding NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1) 17 all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802) CTGCCCCCACCTTCTCCTGCT 0.602000 51 57 0 0 1 0 0 SLC5A7 60482 broad.mit.edu 37 2 108608643 108608643 + Missense_Mutation SNP C C T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr2:108608643C>T ENST00000264047.2 + 3 536 c.260C>T c.(259-261)gCa>gTa p.A87V SLC5A7_ENST00000409059.1_Missense_Mutation_p.A87V|SLC5A7_ENST00000540517.1_5'UTR NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 87 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) TGGGCTCAGGCACCAATTGGA 0.413000 13 53 0 0 1 0 0 NELFA 7469 broad.mit.edu 37 4 1985046 1985046 + Silent SNP C C T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr4:1985046C>T ENST00000382882.3 - 11 2737 c.1620G>A c.(1618-1620)taG>taA p.*540* NELFA_ENST00000411638.1_Silent_p.*529*|NELFA_ENST00000542778.1_Silent_p.*394* NM_005663.4 NP_005654.3 negative elongation factor complex member A GCAGGTGGTTCTAGGACACAT 0.577000 9 97 0 0 1 0 0 EML1 2009 broad.mit.edu 37 14 100387174 100387174 + Silent SNP A A T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr14:100387174A>T ENST00000262233.6 + 17 2008 c.1869A>T c.(1867-1869)acA>acT p.T623T EML1_ENST00000327921.9_Silent_p.T611T|EML1_ENST00000334192.4_Silent_p.T642T NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 623 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) CCGTTCACACAGATGGAAACG 0.353000 13 80 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12321202 12321202 + Missense_Mutation SNP C C G TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr1:12321202C>G ENST00000358136.3 + 12 1540 c.1410C>G c.(1408-1410)atC>atG p.I470M VPS13D_ENST00000356315.4_Missense_Mutation_p.I470M NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 470 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CTGAAGAGATCCTGGGTACGG 0.478000 31 169 0 0 1 0 0 MCM3 4172 broad.mit.edu 37 6 52138596 52138596 + Nonsense_Mutation SNP G G C TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr6:52138596G>C ENST00000596288.1 - 10 1655 c.1628C>G c.(1627-1629)tCa>tGa p.S543* MCM3_ENST00000419835.2_Nonsense_Mutation_p.S452*|MCM3_ENST00000229854.7_Nonsense_Mutation_p.S498* NM_002388.4 NP_002379.3 P25205 MCM3_HUMAN minichromosome maintenance complex component 3 498 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Lung NSC(77;0.0931) GACATGGTCTGAGATCTCCCG 0.507000 33 96 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 51255135 51255135 + Missense_Mutation SNP A A T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr2:51255135A>T ENST00000404971.1 - 2 1616 c.277T>A c.(277-279)Ttc>Atc p.F93I NRXN1_ENST00000405581.1_Missense_Mutation_p.F93I|NRXN1_ENST00000406316.2_Missense_Mutation_p.F93I|NRXN1_ENST00000405472.3_Missense_Mutation_p.F93I|NRXN1_ENST00000402717.3_Missense_Mutation_p.F93I|NRXN1_ENST00000401669.2_Missense_Mutation_p.F93I|NRXN1_ENST00000406859.3_Missense_Mutation_p.F93I NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 93 Laminin G-like 1. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) AAGATGGAGAAGCTGAGCTGC 0.682000 5 35 0 0 1 0 0 SSX2IP 117178 broad.mit.edu 37 1 85116066 85116066 + Missense_Mutation SNP C C A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr1:85116066C>A ENST00000437941.2 - 12 1920 c.1568G>T c.(1567-1569)cGt>cTt p.R523L SSX2IP_ENST00000603677.1_Missense_Mutation_p.R69L|SSX2IP_ENST00000605755.1_Missense_Mutation_p.R523L|SSX2IP_ENST00000342203.3_Missense_Mutation_p.R550L|SSX2IP_ENST00000370612.4_Missense_Mutation_p.R550L NM_001166295.1|NM_001166417.1 NP_001159767.1|NP_001159889.1 Q9Y2D8 ADIP_HUMAN synovial sarcoma, X breakpoint 2 interacting protein 550 cell adhesion nucleus|protein complex endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1) 19 all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TATGCAGGAACGTGTCTGGCA 0.413000 32 154 2.61193e-14 2.8568e-14 1 1 0 TMEM72 643236 broad.mit.edu 37 10 45430235 45430235 + Missense_Mutation SNP G G A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr10:45430235G>A ENST00000544540.1 + 4 611 c.127G>A c.(127-129)Ggc>Agc p.G43S TMEM72-AS1_ENST00000450287.2_RNA A0PK05 TMM72_HUMAN transmembrane protein 72 161 integral to membrane breast(2)|kidney(1)|large_intestine(2)|lung(10) 15 GAGCACCACCGGCTCTGGGGA 0.587000 67 213 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13764681 13764681 + Missense_Mutation SNP G G T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr12:13764681G>T ENST00000279593.3 - 8 1967 c.1758C>A c.(1756-1758)aaC>aaA p.N586K NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 586 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CGAGGCACCTGTTATAACCCA 0.493000 42 134 9.39024e-22 1.07757e-21 1 1 0 ALDH1B1 219 broad.mit.edu 37 9 38396287 38396287 + Missense_Mutation SNP A A G TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr9:38396287A>G ENST00000377698.3 + 2 695 c.542A>G c.(541-543)cAg>cGg p.Q181R NM_000692.4 NP_000683.3 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1 family, member B1 181 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) GTCTGTGGCCAGATCATCCCG 0.582000 39 75 0 0 1 0 0 SLFN13 146857 broad.mit.edu 37 17 33772191 33772191 + Missense_Mutation SNP G G A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr17:33772191G>A ENST00000285013.6 - 3 784 c.509C>T c.(508-510)tCt>tTt p.S170F SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000542635.1_Missense_Mutation_p.S170F|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000533791.1_Missense_Mutation_p.S170F|SLFN13_ENST00000526861.1_Missense_Mutation_p.S170F NM_144682.5 NP_653283.3 Q68D06 SLN13_HUMAN schlafen family member 13 170 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) ACTAGGTGGAGACCCTTCATT 0.378000 5 163 0 0 1 0 0 ZNF211 10520 broad.mit.edu 37 19 58153055 58153055 + Missense_Mutation SNP G G A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr19:58153055G>A ENST00000544273.1 + 5 1564 c.1237G>A c.(1237-1239)Gaa>Aaa p.E413K ZNF211_ENST00000541801.1_Missense_Mutation_p.E392K|ZNF211_ENST00000240731.4_Missense_Mutation_p.E414K|ZNF211_ENST00000391703.3_Missense_Mutation_p.E340K|ZNF211_ENST00000347302.3_Missense_Mutation_p.E401K|ZNF211_ENST00000420680.1_Missense_Mutation_p.E405K|ZNF211_ENST00000299871.5_Missense_Mutation_p.E466K|ZNF211_ENST00000254182.7_Missense_Mutation_p.E392K Q13398 ZN211_HUMAN zinc finger protein 211 401 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGAGTGCAATGAATGTGGAAA 0.458000 11 70 0 0 1 0 0 NR4A2 4929 broad.mit.edu 37 2 157186571 157186571 + Missense_Mutation SNP C C T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr2:157186571C>T ENST00000339562.4 - 3 490 c.128G>A c.(127-129)aGc>aAc p.S43N NR4A2_ENST00000539077.1_Missense_Mutation_p.S54N|NR4A2_ENST00000409572.1_Missense_Mutation_p.S43N|NR4A2_ENST00000429376.1_Intron|NR4A2_ENST00000409108.2_Missense_Mutation_p.S43N|NR4A2_ENST00000426264.1_Intron NM_006186.3 NP_006177.1 P43354 NR4A2_HUMAN nuclear receptor subfamily 4, group A, member 2 43 cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus nucleoplasm sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 40 GAGGTCCATGCTAAACTTGAC 0.512000 33 58 0 0 1 0 0 RWDD2A 112611 broad.mit.edu 37 6 83905854 83905854 + Missense_Mutation SNP G G C TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr6:83905854G>C ENST00000369724.4 + 3 947 c.742G>C c.(742-744)Gag>Cag p.E248Q RWDD2A_ENST00000539997.1_Missense_Mutation_p.E194Q NM_033411.3 NP_219479.2 Q9UIY3 RWD2A_HUMAN RWD domain containing 2A 248 cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1) 5 all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217) BRCA - Breast invasive adenocarcinoma(397;0.045) GTTACTCCTTGAGGCTCATGG 0.418000 15 93 0 0 1 0 0 SSTR5 6755 broad.mit.edu 37 16 1129719 1129719 + Missense_Mutation SNP G G A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr16:1129719G>A ENST00000293897.4 + 1 939 c.851G>A c.(850-852)gGc>gAc p.G284D SSTR5_ENST00000397547.2_Missense_Mutation_p.G284D|SSTR5_ENST00000562758.1_Intron NM_001053.3 NP_001044.1 P35346 SSR5_HUMAN somatostatin receptor 5 284 negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity endometrium(2)|lung(5)|prostate(1)|skin(1) 9 Hepatocellular(780;0.00369) Octreotide(DB00104) GCCTCCGCCGGCCTCTACTTC 0.617000 33 77 0 0 1 0 0 AURKA 6790 broad.mit.edu 37 20 54961341 54961341 + Missense_Mutation SNP C C A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr20:54961341C>A ENST00000395909.4 - 5 856 c.291G>T c.(289-291)aaG>aaT p.K97N AURKA_ENST00000395915.3_Missense_Mutation_p.K97N|AURKA_ENST00000395907.1_Missense_Mutation_p.K97N|AURKA_ENST00000395911.1_Missense_Mutation_p.K97N|AURKA_ENST00000312783.6_Missense_Mutation_p.K97N|AURKA_ENST00000395913.3_Missense_Mutation_p.K97N|AURKA_ENST00000395914.1_Missense_Mutation_p.K97N|AURKA_ENST00000347343.2_Missense_Mutation_p.K97N|AURKA_ENST00000371356.2_Missense_Mutation_p.K97N NM_198433.1 NP_940835.1 O14965 AURKA_HUMAN aurora kinase A 97 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome ATP binding|protein kinase binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2) 22 Colorectal(105;0.202) GCTGCTTGCTCTTTTGGGTGT 0.478000 22 213 1.22574e-08 1.29025e-08 1 1 0 MALAT1 378938 broad.mit.edu 37 11 65268685 65268685 + RNA SNP A A G TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr11:65268685A>G ENST00000534336.1 + 0 3453 NR_002819.2 GGCGGGGGGGAGTTTTCAGTA 0.398000 7 40 0 0 1 0 0 OR51G2 81282 broad.mit.edu 37 11 4936206 4936206 + Missense_Mutation SNP C C T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr11:4936206C>T ENST00000322013.3 - 1 716 c.688G>A c.(688-690)Gtg>Atg p.V230M MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005238.1 NP_001005238.1 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, member 2 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V230M(1) autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGGACAGCACGGTGCGCAGG 0.522000 17 66 0 0 1 0 0 HTR1B 3351 broad.mit.edu 37 6 78172432 78172432 + Missense_Mutation SNP C C T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr6:78172432C>T ENST00000369947.2 - 1 1058 c.689G>A c.(688-690)cGc>cAc p.R230H NM_000863.1 NP_000854.1 P28222 5HT1B_HUMAN 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled 230 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission integral to plasma membrane protein binding|serotonin receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 25 all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332) BRCA - Breast invasive adenocarcinoma(397;0.205) Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315) TACGTAGATGCGGCCATAGAG 0.607000 16 72 0 0 1 0 0 AGAP3 116988 broad.mit.edu 37 7 150817147 150817147 + Missense_Mutation SNP G G A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr7:150817147G>A ENST00000397238.2 + 8 1043 c.1043G>A c.(1042-1044)cGg>cAg p.R348Q AGAP3_ENST00000479901.1_Intron|AGAP3_ENST00000335367.3_Missense_Mutation_p.R528Q|AGAP3_ENST00000473312.1_Missense_Mutation_p.R348Q|AGAP3_ENST00000463381.1_Missense_Mutation_p.R120Q NM_031946.4 NP_114152.3 Q96P47 AGAP3_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 312 Small GTPase-like. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1) 28 ATCAGCCAGCGGGAGCTGCGC 0.647000 22 84 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9059461 9059461 + Missense_Mutation SNP T T C TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr19:9059461T>C ENST00000397910.4 - 3 28188 c.27985A>G c.(27985-27987)Agc>Ggc p.S9329G NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9331 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 GATGTTCTGCTAGAAGAGATG 0.498000 68 127 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197297889 197297889 + Missense_Mutation SNP C C A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr2:197297889C>A ENST00000260983.2 - 2 441 c.259G>T c.(259-261)Gac>Tac p.D87Y NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 87 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 TCACTGGGGTCCACCTCCTCT 0.463000 7 67 5.18039e-06 5.37226e-06 1 1 0 ZNF839 55778 broad.mit.edu 37 14 102805159 102805159 + Missense_Mutation SNP G G C TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr14:102805159G>C ENST00000262236.5 + 6 1673 c.1318G>C c.(1318-1320)Gag>Cag p.E440Q ZNF839_ENST00000559185.1_Missense_Mutation_p.E440Q|ZNF839_ENST00000558850.1_Missense_Mutation_p.E440Q|ZNF839_ENST00000442396.2_Missense_Mutation_p.E556Q|ZNF839_ENST00000420933.2_3'UTR NM_018335.4 NP_060805.3 A8K0R7 ZN839_HUMAN zinc finger protein 839 440 intracellular zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 TCAGGTTGCTGAGTCATTAGG 0.458000 12 34 0 0 1 0 0 ANKRD1 27063 broad.mit.edu 37 10 92675321 92675321 + Silent SNP C C T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr10:92675321C>T ENST00000371697.3 - 8 1076 c.828G>A c.(826-828)gcG>gcA p.A276A NM_014391.2 NP_055206.2 Q15327 ANKR1_HUMAN ankyrin repeat domain 1 (cardiac muscle) 276 cellular lipid metabolic process|defense response|signal transduction DNA binding autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1) 27 Colorectal(252;0.0475) TGTTGAGATCCGCGCCATACA 0.458000 7 54 0 0 1 0 0 PCDHB16 57717 broad.mit.edu 37 5 140564100 140564100 + Missense_Mutation SNP G G A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr5:140564100G>A ENST00000361016.2 + 1 3121 c.1966G>A c.(1966-1968)Gcc>Acc p.A656T NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 656 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.A656T(1) breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCGGCCACCGCCACGCTGCA 0.706000 75 67 0 0 1 0 0 TSNARE1 203062 broad.mit.edu 37 8 143396416 143396416 + Missense_Mutation SNP C C T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr8:143396416C>T ENST00000519651.1 - 6 465 c.362G>A c.(361-363)cGg>cAg p.R121Q TSNARE1_ENST00000520166.1_Missense_Mutation_p.R340Q|TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000524325.1_Missense_Mutation_p.R340Q|TSNARE1_ENST00000307180.3_Missense_Mutation_p.R341Q Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 341 vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GGTTTTCAGCCGGTCCAGCTG 0.652000 4 85 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150901065 150901065 + Nonsense_Mutation SNP G G A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr5:150901065G>A ENST00000261800.5 - 18 11101 c.11089C>T c.(11089-11091)Cag>Tag p.Q3697* NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 3697 epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCTAGCTCCTGAAACTCGTAG 0.582000 59 51 0 0 1 0 0 NPY4R 5540 broad.mit.edu 37 10 47087372 47087372 + Missense_Mutation SNP G G C TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr10:47087372G>C ENST00000374312.1 + 3 1008 c.589G>C c.(589-591)Gat>Cat p.D197H NPY4R_ENST00000395716.1_Missense_Mutation_p.D197H NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 GTTCCTGGCGGATAAGGTGGT 0.582000 18 178 0 0 1 0 0 NBEAL1 65065 broad.mit.edu 37 2 204032068 204032068 + Silent SNP C C T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr2:204032068C>T ENST00000449802.1 + 37 6228 c.5895C>T c.(5893-5895)ctC>ctT p.L1965L NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 1965 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 ACTACTTTCTCAATTTCAAAA 0.383000 62 80 0 0 1 0 0 ADAMTS1 9510 broad.mit.edu 37 21 28210183 28210183 + Silent SNP A A G TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr21:28210183A>G ENST00000284984.2 - 9 3073 c.2619T>C c.(2617-2619)ggT>ggC p.G873G NM_006988.3 NP_008919.3 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 1 873 TSP type-1 2. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 42 Breast(209;0.000962) Lung(58;0.215) TTCTCTGCCAACCCAATTCAC 0.478000 16 113 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10404587 10404587 + Missense_Mutation SNP G G A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr17:10404587G>A ENST00000226207.5 - 27 3672 c.3578C>T c.(3577-3579)gCg>gTg p.A1193V CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1193 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CAGGGTGGCCGCCGTGGCTTC 0.577000 26 151 0 0 1 0 0 INTS6 26512 broad.mit.edu 37 13 51950210 51950210 + Missense_Mutation SNP C C A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr13:51950210C>A ENST00000311234.4 - 13 2175 c.1703G>T c.(1702-1704)cGc>cTc p.R568L INTS6_ENST00000490542.1_Missense_Mutation_p.R252L|INTS6_ENST00000425000.1_Missense_Mutation_p.R136L|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000497989.1_Missense_Mutation_p.R390L|INTS6_ENST00000398119.2_Missense_Mutation_p.R555L NM_012141.2 NP_036273.1 Q9UL03 INT6_HUMAN integrator complex subunit 6 568 snRNA processing actin cytoskeleton|integrator complex protein binding|transmembrane receptor activity NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;7.7e-08) CAGAAATCTGCGAGTGCTCTT 0.338000 18 43 2.35188e-11 2.51346e-11 1 1 0 CYB5R3 1727 broad.mit.edu 37 22 43024193 43024193 + Missense_Mutation SNP C C T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr22:43024193C>T ENST00000361740.4 - 5 526 c.527G>A c.(526-528)cGg>cAg p.R176Q CYB5R3_ENST00000407623.3_Missense_Mutation_p.R120Q|CYB5R3_ENST00000407332.1_Missense_Mutation_p.R120Q|CYB5R3_ENST00000402438.1_Missense_Mutation_p.R120Q|CYB5R3_ENST00000396303.3_Missense_Mutation_p.R120Q|CYB5R3_ENST00000352397.5_Missense_Mutation_p.R143Q NM_001171660.1 NP_001165131.1 P00387 NB5R3_HUMAN cytochrome b5 reductase 3 143 blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane cytochrome-b5 reductase activity p.R120Q(1) kidney(2)|large_intestine(1)|lung(2)|skin(1) 6 NADH(DB00157) ACTGGGGCCCCGGAACTCAAT 0.562000 13 210 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103706 53103706 + Missense_Mutation SNP T T G TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr7:53103706T>G ENST00000408890.4 + 1 358 c.342T>G c.(340-342)tgT>tgG p.C114W NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 114 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 ACCTCTCCTGTGCCTGGGAGG 0.721000 4 82 0 0 1 0 0 MME 4311 broad.mit.edu 37 3 154802023 154802023 + Nonsense_Mutation SNP C C T rs150836510 TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr3:154802023C>T ENST00000460393.1 + 2 187 c.67C>T c.(67-69)Cga>Tga p.R23* MME_ENST00000493237.1_Nonsense_Mutation_p.R23*|MME_ENST00000492661.1_Nonsense_Mutation_p.R23*|MME_ENST00000360490.2_Nonsense_Mutation_p.R23*|MME_ENST00000382989.3_Nonsense_Mutation_p.R23*|MME_ENST00000462745.1_Nonsense_Mutation_p.R23* NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 23 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding p.R23*(1) central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) GAAGAAACAGCGATGGACTCC 0.433000 20 202 0 0 1 0 0 FLII 2314 broad.mit.edu 37 17 18160272 18160272 + Missense_Mutation SNP C C A rs145813372 TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr17:18160272C>A ENST00000327031.4 - 2 350 c.125G>T c.(124-126)cGc>cTc p.R42L FLII_ENST00000545457.2_Missense_Mutation_p.R42L|FLII_ENST00000584444.1_5'UTR|FLII_ENST00000579294.1_Missense_Mutation_p.R31L|FLII_ENST00000379450.4_Missense_Mutation_p.R11L|FLII_ENST00000578558.1_Missense_Mutation_p.R42L NM_002018.3 NP_002009.1 Q13045 FLII_HUMAN flightless I homolog (Drosophila) 42 Interaction with LRRFIP1 and LRRFIP2. multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) GAGGCCAGTGCGGTTCAGCTT 0.652000 6 15 0.00198382 0.00199809 1 1 0 MTO1 25821 broad.mit.edu 37 6 74190513 74190513 + Silent SNP G G A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr6:74190513G>A ENST00000498286.1 + 7 1522 c.1245G>A c.(1243-1245)gaG>gaA p.E415E MTO1_ENST00000370300.4_Silent_p.E440E|MTO1_ENST00000370305.1_Silent_p.E366E|MTO1_ENST00000415954.2_Silent_p.E415E Q9Y2Z2 MTO1_HUMAN mitochondrial tRNA translation optimization 1 440 tRNA processing mitochondrion flavin adenine dinucleotide binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1) 27 CTGGTTATGAGGAAGCTGCAG 0.393000 18 42 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91652205 91652205 + Missense_Mutation SNP G G C TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr7:91652205G>C ENST00000359028.2 + 15 4291 c.4066G>C c.(4066-4068)Gaa>Caa p.E1356Q AKAP9_ENST00000356239.3_Missense_Mutation_p.E1344Q|AKAP9_ENST00000358100.2_Missense_Mutation_p.E1356Q Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1356 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TCAAGAATTAGAAAGCCTCAT 0.343000 T BRAF papillary thyroid 17 31 0 0 1 0 0 ZNF785 146540 broad.mit.edu 37 16 30593997 30593997 + Missense_Mutation SNP T T A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr16:30593997T>A ENST00000395216.2 - 3 1261 c.1102A>T c.(1102-1104)Agg>Tgg p.R368W AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Missense_Mutation_p.R353W NM_152458.6 NP_689671.2 A8K8V0 ZN785_HUMAN zinc finger protein 785 368 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 9 CACGCGCGCCTCTCGCTGCAG 0.637000 37 99 0 0 1 0 0 WARS2 10352 broad.mit.edu 37 1 119575875 119575875 + Missense_Mutation SNP C C A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr1:119575875C>A ENST00000235521.4 - 6 768 c.742G>T c.(742-744)Gtg>Ttg p.V248L WARS2_ENST00000537870.1_Missense_Mutation_p.V154L|WARS2_ENST00000369426.5_3'UTR NM_015836.3|NM_201263.2 NP_056651.1|NP_957715.1 Q9UGM6 SYWM_HUMAN tryptophanyl tRNA synthetase 2, mitochondrial 248 tryptophanyl-tRNA aminoacylation mitochondrial matrix ATP binding|tryptophan-tRNA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2) 15 all_neural(166;0.187) all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564) Lung(183;0.0629) L-Tryptophan(DB00150) AATTTCTGCACTATCTCCTCT 0.552000 38 103 6.03168e-27 7.0961e-27 1 1 0 TRIM58 25893 broad.mit.edu 37 1 248039556 248039556 + Missense_Mutation SNP G G T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr1:248039556G>T ENST00000366481.3 + 6 1274 c.1226G>T c.(1225-1227)cGc>cTc p.R409L OR2W3_ENST00000537741.1_Intron NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 409 B30.2/SPRY. intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GAAAGTCCTCGCTGCATTGGG 0.478000 56 131 5.39261e-20 6.13793e-20 1 1 0 CDKN2A 1029 broad.mit.edu 37 9 21971096 21971096 + Nonsense_Mutation SNP C C A rs121913384 TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr9:21971096C>A ENST00000304494.5 - 2 532 c.262G>T c.(262-264)Gag>Tag p.E88* CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E88*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G102V|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G102V|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G143V|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E37* NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 88 E -> D (in a biliary tract tumor). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) AGGAAGCCCTCCCGGGCAGCG 0.756000 E88*(CAL33_UPPER_AERODIGESTIVE_TRACT) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 17 23 1.40151e-16 1.55723e-16 1 1 0 TSPAN31 6302 broad.mit.edu 37 12 58139630 58139630 + Missense_Mutation SNP C C T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr12:58139630C>T ENST00000547992.1 + 2 298 c.166C>T c.(166-168)Ctt>Ttt p.L56F TSPAN31_ENST00000547472.1_Intron|TSPAN31_ENST00000553221.1_3'UTR|TSPAN31_ENST00000257910.3_Missense_Mutation_p.L56F Q12999 TSN31_HUMAN tetraspanin 31 56 positive regulation of cell proliferation integral to plasma membrane|membrane fraction endometrium(1)|kidney(1)|lung(5) 7 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) GGGAGTCTTCCTTCTCCTTAT 0.577000 15 91 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29600974 29600974 + Missense_Mutation SNP G G T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr13:29600974G>T ENST00000431530.3 + 1 2227 c.2169G>T c.(2167-2169)ttG>ttT p.L723F NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 713 Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 GTTCCGGATTGATGGTGTCTG 0.468000 25 57 2.41591e-17 2.70582e-17 1 1 0 AURKC 6795 broad.mit.edu 37 19 57743153 57743153 + Translation_Start_Site SNP C C A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr19:57743153C>A ENST00000598785.1 + 0 167 AURKC_ENST00000415300.2_Silent_p.A15A|AURKC_ENST00000448930.1_De_novo_Start_InFrame|AURKC_ENST00000599062.1_Silent_p.A31A|AURKC_ENST00000302804.7_Silent_p.A34A Q9UQB9 AURKC_HUMAN aurora kinase C cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1) 25 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) gcagcccagcCATGTGAGTCC 0.587000 8 110 2.17888e-05 2.24296e-05 1 1 0 TECTA 7007 broad.mit.edu 37 11 121000526 121000526 + Silent SNP C C T rs148065839 TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr11:121000526C>T ENST00000392793.1 + 10 2818 c.2547C>T c.(2545-2547)tgC>tgT p.C849C TECTA_ENST00000264037.2_Silent_p.C849C O75443 TECTA_HUMAN tectorin alpha 849 VWFD 2. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GGGGCTTGTGCGGCTTCTACA 0.547000 4 208 0 0 1 0 0 PPAN-P2RY11 692312 broad.mit.edu 37 19 10224527 10224527 + Silent SNP C C T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr19:10224527C>T ENST00000428358.1 + 13 1732 c.1560C>T c.(1558-1560)ccC>ccT p.P520P PPAN_ENST00000556468.1_Silent_p.L500L|P2RY11_ENST00000321826.4_Silent_p.L80L|PPAN-P2RY11_ENST00000393796.4_Silent_p.L500L NM_001040664.2|NM_001198690.1 NP_001035754.1|NP_001185619.1 Q9NQ55 SSF1_HUMAN 0 RNA splicing nucleolus protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 31 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) GCTCTGCGCCCTGACGCTGCC 0.687000 OREG0025230 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 31 0 0 1 0 0 QARS 5859 broad.mit.edu 37 3 49137075 49137075 + Missense_Mutation SNP G G C TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr3:49137075G>C ENST00000306125.6 - 16 1731 c.1394C>G c.(1393-1395)tCt>tGt p.S465C QARS_ENST00000414533.1_Missense_Mutation_p.S454C P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 465 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) GAAGTAGGAAGAGCGTCTGGG 0.572000 7 59 0 0 1 0 0 KLHL22 84861 broad.mit.edu 37 22 20819166 20819166 + Missense_Mutation SNP C C A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr22:20819166C>A ENST00000328879.4 - 4 1247 c.1091G>T c.(1090-1092)cGa>cTa p.R364L KLHL22_ENST00000440659.2_Missense_Mutation_p.R221L NM_032775.3 NP_116164.2 Q53GT1 KLH22_HUMAN kelch-like family member 22 364 cell division Cul3-RING ubiquitin ligase complex breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 20 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GGACTCTGCTCGAAATCCTTG 0.562000 35 115 6.29468e-14 6.83144e-14 1 1 0 LRP6 4040 broad.mit.edu 37 12 12274116 12274116 + Missense_Mutation SNP T T C TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr12:12274116T>C ENST00000261349.4 - 23 4862 c.4786A>G c.(4786-4788)Agc>Ggc p.S1596G BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.S1551G NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 1596 cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) TGAGAATAGCTCCTCTCTGTG 0.547000 6 82 0 0 1 0 0 EPB41L5 57669 broad.mit.edu 37 2 120847933 120847933 + Missense_Mutation SNP A A C TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr2:120847933A>C ENST00000263713.5 + 12 1098 c.884A>C c.(883-885)cAg>cCg p.Q295P EPB41L5_ENST00000443902.2_Missense_Mutation_p.Q295P|EPB41L5_ENST00000443124.1_Missense_Mutation_p.Q295P|EPB41L5_ENST00000331393.4_Missense_Mutation_p.Q295P|EPB41L5_ENST00000452780.1_Missense_Mutation_p.Q295P NM_020909.3 NP_065960.2 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 295 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1) 26 GGCAAAGAACAGGAACATACA 0.373000 7 94 0 0 1 0 0 KRTAP13-4 284827 broad.mit.edu 37 21 31802793 31802793 + Missense_Mutation SNP G G A rs139497735 byFrequency TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr21:31802793G>A ENST00000334068.2 + 1 222 c.200G>A c.(199-201)cGc>cAc p.R67H NM_181600.1 NP_853631.1 Q3LI77 KR134_HUMAN keratin associated protein 13-4 67 4 X 10 AA approximate repeats. intermediate filament NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 15 TCCTGCTACCGCCCCAGGACC 0.617000 15 86 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr3:195505836G>C ENST00000463781.3 - 2 13074 c.12615C>G c.(12613-12615)caC>caG p.H4205Q MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 968 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.H4205Q(10) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597000 4 10 0 0 1 0 0 KIAA0232 9778 broad.mit.edu 37 4 6863455 6863455 + Missense_Mutation SNP G G C TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr4:6863455G>C ENST00000307659.5 + 7 1801 c.1346G>C c.(1345-1347)tGt>tCt p.C449S KIAA0232_ENST00000425103.1_Missense_Mutation_p.C449S NM_014743.2 NP_055558.2 Q92628 K0232_HUMAN KIAA0232 449 ATP binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 41 CATGGTCTTTGTATCAGCAAC 0.383000 22 46 0 0 1 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105883845 105883845 + Missense_Mutation SNP T T A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr2:105883845T>A ENST00000393359.2 - 12 3004 c.2578A>T c.(2578-2580)Act>Tct p.T860S TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.T860S Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 860 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 GCTTTTCAAGTCCGAGTGCCA 0.557000 17 87 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 79746660 79746660 + Missense_Mutation SNP G G T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr14:79746660G>T ENST00000281127.7 + 1 905 c.26G>T c.(25-27)cGg>cTg p.R9L NRXN3_ENST00000428277.2_Missense_Mutation_p.R9L|NRXN3_ENST00000557594.1_Missense_Mutation_p.R9L|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000554719.1_Intron NM_138970.3 NP_620426.2 Q9HDB5 NRX3B_HUMAN neurexin 3 9 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CACGCGAGACGGAGCCCTCCT 0.557000 61 191 8.81991e-31 1.04643e-30 1 1 0 PCDHB8 56128 broad.mit.edu 37 5 140558302 140558302 + Silent SNP C C G TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr5:140558302C>G ENST00000239444.2 + 1 932 c.687C>G c.(685-687)gtC>gtG p.V229V NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 229 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.V229V(1) NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGCTCAGGTCTACATTGAAG 0.512000 92 322 0 0 1 0 0 RASA4 10156 broad.mit.edu 37 7 102246402 102246402 + Missense_Mutation SNP C C T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr7:102246402C>T ENST00000262940.7 - 5 398 c.331G>A c.(331-333)Gac>Aac p.D111N RP11-514P8.6_ENST00000519541.1_3'UTR|RASA4_ENST00000461209.1_Missense_Mutation_p.D39N|RASA4_ENST00000449970.2_Missense_Mutation_p.D111N|RASA4_ENST00000462172.1_Missense_Mutation_p.D39N NM_006989.5 NP_008920.5 O43374 RASL2_HUMAN RAS p21 protein activator 4 111 intracellular signal transduction|negative regulation of Ras protein signal transduction cytosol|intrinsic to internal side of plasma membrane metal ion binding|Ras GTPase activator activity lung(1)|prostate(1)|urinary_tract(1) 3 TCATCGGGGTCGACCTCCGTC 0.706000 3 30 0 0 1 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70744247 70744247 + Missense_Mutation SNP G G A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr8:70744247G>A ENST00000260126.3 - 2 1368 c.662C>T c.(661-663)cCc>cTc p.P221L SLCO5A1_ENST00000530307.1_Missense_Mutation_p.P221L|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.P221L|SLCO5A1_ENST00000528658.1_5'UTR NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 221 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) GATCTGGTAGGGGGGCGAGAT 0.677000 19 32 0 0 1 0 0 BCL2A1 597 broad.mit.edu 37 15 80253470 80253470 + Missense_Mutation SNP G G A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr15:80253470G>A ENST00000267953.3 - 2 793 c.467C>T c.(466-468)aCt>aTt p.T156I BCL2A1_ENST00000335661.6_3'UTR NM_004049.3 NP_004040.1 Q16548 B2LA1_HUMAN BCL2-related protein A1 156 anti-apoptosis|apoptosis cytoplasm protein binding endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1) 12 TTCTAGAAAAGTCATCCAGCC 0.353000 14 28 0 0 1 0 0 MAP1B 4131 broad.mit.edu 37 5 71491772 71491772 + Missense_Mutation SNP G G A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr5:71491772G>A ENST00000296755.7 + 5 2888 c.2590G>A c.(2590-2592)Gaa>Aaa p.E864K NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 864 microtubule|microtubule associated complex structural molecule activity p.E864K(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) AATCGAAGACGAAGAGAAACT 0.493000 133 132 0 0 1 0 0 WASH3P 374666 broad.mit.edu 37 15 102516483 102516483 + RNA SNP A A T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr15:102516483A>T ENST00000557932.1 + 0 1431 central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 GCTCCATGACACCTTCCCCCC 0.632000 12 119 0 0 1 0 0 TMED6 146456 broad.mit.edu 37 16 69385576 69385576 + Nonsense_Mutation SNP T T A rs143433971 by1000genomes TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr16:69385576T>A ENST00000564737.1 - 1 57 c.58A>T c.(58-60)Aag>Tag p.K20* TMED6_ENST00000288025.3_Silent_p.L27L|RP11-343C2.9_ENST00000563634.1_Intron CAGAGCCACTTAGAGGTTCTG 0.552000 48 153 0 0 1 0 0 HIST3H3 8290 broad.mit.edu 37 1 228612821 228612821 + Missense_Mutation SNP T T A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr1:228612821T>A ENST00000366696.1 - 1 205 c.206A>T c.(205-207)cAg>cTg p.Q69L NM_003493.2 NP_003484.1 Q16695 H31T_HUMAN histone cluster 3, H3 69 nucleosome assembly|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding large_intestine(1)|lung(2)|prostate(2)|skin(1) 6 Prostate(94;0.0724) CATCAGCCGCTGGAAGGGCAA 0.642000 66 161 0 0 1 0 0 RC3H2 54542 broad.mit.edu 37 9 125618118 125618118 + Missense_Mutation SNP G G A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr9:125618118G>A ENST00000373670.1 - 13 3094 c.2494C>T c.(2494-2496)Cat>Tat p.H832Y RC3H2_ENST00000357244.2_Missense_Mutation_p.H832Y|RC3H2_ENST00000423239.2_Missense_Mutation_p.H832Y Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type domains 2 832 cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 TGGGAAAGATGATCTTCTTCA 0.358000 19 52 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139393350 139393350 + Splice_Site SNP C C G TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr9:139393350C>G ENST00000277541.6 - 33 6256 c.e33+1 NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CTCGCGCTCACCCTGTTGTTC 0.622000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 37 130 0 0 1 0 0 FAM117A 81558 broad.mit.edu 37 17 47788765 47788765 + Missense_Mutation SNP G G A rs138923537 TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr17:47788765G>A ENST00000240364.2 - 8 1293 c.1214C>T c.(1213-1215)cCg>cTg p.P405L RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000513602.1_Missense_Mutation_p.P133L NM_030802.3 NP_110429.1 Q9C073 F117A_HUMAN family with sequence similarity 117, member A 405 Pro-rich. haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 17 GGGAGATCCCGGGTTTGAGGG 0.647000 19 59 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56501368 56501368 + Missense_Mutation SNP G G A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr6:56501368G>A ENST00000370754.5 - 22 2947 c.2948C>T c.(2947-2949)aCa>aTa p.T983I DST_ENST00000370769.4_Missense_Mutation_p.T805I|DST_ENST00000370765.6_Missense_Mutation_p.T479I|DST_ENST00000518935.1_Missense_Mutation_p.T479I|DST_ENST00000312431.6_Missense_Mutation_p.T805I|DST_ENST00000421834.2_Missense_Mutation_p.T805I|DST_ENST00000446842.2_Missense_Mutation_p.T479I|DST_ENST00000370788.2_Missense_Mutation_p.T805I|DST_ENST00000244364.6_Missense_Mutation_p.T479I|DST_ENST00000361203.3_Missense_Mutation_p.T805I Q03001 DYST_HUMAN dystonin 805 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) GAAATACGCTGTGTTCTCCTT 0.413000 26 75 0 0 1 0 0 RSU1P2 100133308 broad.mit.edu 37 10 45602470 45602470 + RNA SNP C C T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr10:45602470C>T ENST00000423875.1 - 0 966 TTGTGAGCTTCCCAATATCTG 0.403000 3 21 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9046079 9046079 + Missense_Mutation SNP G G T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr19:9046079G>T ENST00000397910.4 - 5 35755 c.35552C>A c.(35551-35553)tCc>tAc p.S11851Y NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11853 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 TGGATGGGTGGAAAGTGGGGC 0.478000 59 72 4.17463e-26 4.8704e-26 1 1 0 TP53I11 9537 broad.mit.edu 37 11 44957116 44957116 + Silent SNP G G A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr11:44957116G>A ENST00000533940.1 - 9 1036 c.432C>T c.(430-432)ttC>ttT p.F144F TP53I11_ENST00000308212.5_Silent_p.F144F|TP53I11_ENST00000395648.3_Silent_p.F144F|TP53I11_ENST00000525680.1_Silent_p.F144F NM_001258320.1 NP_001245249.1 O14683 P5I11_HUMAN tumor protein p53 inducible protein 11 144 negative regulation of cell proliferation|response to stress integral to membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1) 5 ACTCACCCAAGAACTGGACCC 0.582000 6 60 0 0 1 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr13:25161397C>G ENST00000453498.1 + 0 921 TGAAACATCTCTACAACTGGA 0.343000 4 42 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176687017 176687017 + Missense_Mutation SNP C C T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr5:176687017C>T ENST00000439151.2 + 14 5039 c.4994C>T c.(4993-4995)cCt>cTt p.P1665L NSD1_ENST00000354179.4_Missense_Mutation_p.P1396L|NSD1_ENST00000361032.4_Missense_Mutation_p.P1562L|NSD1_ENST00000347982.4_Missense_Mutation_p.P1396L NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1665 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) GTCCGCTGTCCTGTGGCATAC 0.438000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 63 62 0 0 1 0 0 CSGALNACT1 55790 broad.mit.edu 37 8 19363248 19363248 + Missense_Mutation SNP G G A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr8:19363248G>A ENST00000454498.2 - 4 1111 c.98C>T c.(97-99)gCc>gTc p.A33V CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.A33V|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.A33V|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.A33V|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.A33V NM_001130518.1 NP_001123990.1 Q8TDX6 CGAT1_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 1 33 anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(111;0.182) TGGGGTGCAGGCCAACATGTA 0.617000 37 84 0 0 1 0 0 HDAC10 83933 broad.mit.edu 37 22 50684138 50684138 + Missense_Mutation SNP C C G TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr22:50684138C>G ENST00000216271.5 - 19 2304 c.1952G>C c.(1951-1953)aGa>aCa p.R651T HDAC10_ENST00000349505.4_Missense_Mutation_p.R631T|HDAC10_ENST00000448072.1_Missense_Mutation_p.R601T|HDAC10_ENST00000498366.1_5'UTR|MAPK12_ENST00000497036.1_5'UTR NM_001159286.1|NM_032019.5 NP_001152758.1|NP_114408.3 Q969S8 HDA10_HUMAN histone deacetylase 10 651 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nucleus histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific) endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 8 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CAGCTGCCCTCTCAGGTACAT 0.662000 4 43 0 0 1 0 0 IMPG2 50939 broad.mit.edu 37 3 100963310 100963310 + Missense_Mutation SNP T T C TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr3:100963310T>C ENST00000193391.7 - 13 2052 c.1865A>G c.(1864-1866)gAg>gGg p.E622G NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 622 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 AGCGCTCTTCTCTGATGAAGT 0.433000 17 195 0 0 1 0 0 PRKCG 5582 broad.mit.edu 37 19 54385908 54385908 + Missense_Mutation SNP G G T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr19:54385908G>T ENST00000263431.3 + 1 442 c.160G>T c.(160-162)Gac>Tac p.D54Y PRKCG_ENST00000540413.1_Missense_Mutation_p.D54Y|PRKCG_ENST00000536044.1_Missense_Mutation_p.D54Y NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 54 activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) CCACTGCACCGACTTCATCTG 0.622000 20 63 3.51602e-12 3.78648e-12 1 1 0 ACAD11 84129 broad.mit.edu 37 3 132378464 132378464 + Silent SNP C C T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr3:132378464C>T ENST00000264990.6 - 1 1103 c.132G>A c.(130-132)ctG>ctA p.L44L ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000481970.2_Silent_p.L44L|UBA5_ENST00000356232.4_5'UTR|ACAD11_ENST00000355458.3_Silent_p.L44L|UBA5_ENST00000264991.4_Intron|ACAD11_ENST00000489991.1_5'UTR NM_032169.4 NP_115545.3 acyl-CoA dehydrogenase family, member 11 breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 36 GGGCAATGGTCAGCGTAGCCT 0.537000 OREG0015804 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 86 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108412274 108412274 + Missense_Mutation SNP C C T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr10:108412274C>T ENST00000263054.6 - 18 2348 c.2341G>A c.(2341-2343)Gta>Ata p.V781I SORCS1_ENST00000369698.1_Missense_Mutation_p.V316I|SORCS1_ENST00000344440.6_Missense_Mutation_p.V781I NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 781 integral to membrane neuropeptide receptor activity|protein binding p.V781L(2) breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TGTTCCCTTACGCCATCAGTG 0.493000 27 94 0 0 1 0 0 HNRNPD 3184 broad.mit.edu 37 4 83279847 83279847 + Missense_Mutation SNP C C G TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr4:83279847C>G ENST00000313899.7 - 4 863 c.586G>C c.(586-588)Gag>Cag p.E196Q HNRNPD_ENST00000543098.1_Missense_Mutation_p.E144Q|HNRNPD_ENST00000541060.1_Missense_Mutation_p.E42Q|HNRNPD_ENST00000353341.4_Missense_Mutation_p.E196Q|HNRNPD_ENST00000352301.4_Missense_Mutation_p.E177Q NM_031370.2 NP_112738.1 Q14103 HNRPD_HUMAN heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) 196 RRM 2. nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|telomeric DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1) 7 CTTATTTTCTCTTCAGGTGTA 0.378000 33 49 0 0 1 0 0 ZNF823 55552 broad.mit.edu 37 19 11833927 11833927 + Translation_Start_Site SNP C C T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr19:11833927C>T ENST00000545749.1 - 0 514 ZNF823_ENST00000341191.6_Missense_Mutation_p.R141H|ZNF823_ENST00000440527.1_Intron P16415 ZN823_HUMAN zinc finger protein 823 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4) 26 GGCTTTCCCACGTTGTTTATG 0.438000 HNSCC(68;0.2) 23 143 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151868382 151868382 + Silent SNP T T C TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr7:151868382T>C ENST00000355193.2 - 40 9638 c.9420A>G c.(9418-9420)gaA>gaG p.E3140E KMT2C_ENST00000262189.6_Silent_p.E3140E lysine (K)-specific methyltransferase 2C GGTTCTGTCCTTCACTGTTCT 0.443000 3 12 0 0 1 0 0 STK39 27347 broad.mit.edu 37 2 169103872 169103892 + In_Frame_Del DEL GCCGCCGCCGCTGTCACCGGG GCCGCCGCCGCTGTCACCGGG - TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr2:169103872_169103892delGCCGCCGCCGCTGTCACCGGG ENST00000355999.4 - 1 759_779 c.54_74delCCCGGTGACAGCGGCGGCGGC c.(52-75)gcg>gc p.APVTAAAA18del NM_013233.2 NP_037365.2 Q9UEW8 STK39_HUMAN serine threonine kinase 39 18 Ala/Pro-rich. response to stress cytoplasm|nucleus ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2) 13 cggggccgccgccgccgccgctgtcaccggggccgccTGCT 0.814 7 12 --- --- --- --- EPHA6 285220 broad.mit.edu 37 3 97251229 97251229 + Frame_Shift_Del DEL G G - TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr3:97251229delG ENST00000389672.5 + 11 2266 c.2228delG c.(2227-2229)ctfs p.R743fs EPHA6_ENST00000442602.2_Frame_Shift_Del_p.R109fs|EPHA6_ENST00000502694.1_Frame_Shift_Del_p.R135fs|EPHA6_ENST00000514100.1_Frame_Shift_Del_p.R135fs NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 648 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TGTAGTGGGCGTTTGAAGACA 0.388 12 172 --- --- --- --- F13A1 2162 broad.mit.edu 37 6 6174921 6174921 + Frame_Shift_Del DEL G G - TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr6:6174921delG ENST00000264870.3 - 12 1904 c.1639delC c.(1639-1641)gtfs p.R547fs NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 547 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.R547C(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) ATGGTGTAACGGTTGTGGCTG 0.507 25 90 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939829 31939830 + Frame_Shift_Ins INS - - A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr6:31939829_31939830insA ENST00000375331.2 + 1 222_223 c.56_57insA c.(55-57)gaafs p.E19fs STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_5'UTR NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 19 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 CAGTGGCGGGCAAACCCCTCCC 0.634 7 256 --- --- --- --- RPF2 84154 broad.mit.edu 37 6 111329306 111329307 + Frame_Shift_Del DEL AG AG - TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr6:111329306_111329307delAG ENST00000441448.2 + 7 551_552 c.459_460delAG c.(457-462)acaafs p.TE153fs NM_032194.1 NP_115570.1 Q9H7B2 RPF2_HUMAN ribosome production factor 2 homolog (S. cerevisiae) 153 Brix. nucleolus protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2) 7 TCGATGTAACAGAAGATTATAG 0.332 8 66 --- --- --- --- AP5Z1 9907 broad.mit.edu 37 7 4828533 4828533 + Frame_Shift_Del DEL C C - TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr7:4828533delC ENST00000348624.4 + 13 1752 c.1658delC c.(1657-1659)gcfs p.A553fs AP5Z1_ENST00000401897.1_Frame_Shift_Del_p.A553fs NM_014855.2 NP_055670.1 O43299 K0415_HUMAN adaptor-related protein complex 5, zeta 1 subunit 553 cell death|double-strand break repair via homologous recombination cytoplasm|nucleus protein binding GCCCAGTGTGCCCAGGCCGTG 0.692 19 69 --- --- --- --- P2RX4 5025 broad.mit.edu 37 12 121670836 121670837 + Frame_Shift_Ins INS - - T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr12:121670836_121670837insT ENST00000337233.4 + 11 1389_1390 c.1081_1082insT c.(1081-1083)gaafs p.E361fs P2RX4_ENST00000543171.1_Frame_Shift_Ins_p.E260fs|P2RX4_ENST00000359949.7_Frame_Shift_Ins_p.E377fs NM_001261397.1|NM_001261398.1|NM_002560.2 NP_001248326.1|NP_001248327.1|NP_002551.2 Q99571 P2RX4_HUMAN purinergic receptor P2X, ligand-gated ion channel, 4 361 endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis cell junction|perinuclear region of cytoplasm cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CCTCTACTGCATGAAGAAAAGA 0.495 138 296 --- --- --- --- POU4F1 5457 broad.mit.edu 37 13 79176484 79176486 + In_Frame_Del DEL TGG TGG - TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr13:79176484_79176486delTGG ENST00000377208.5 - 2 535_537 c.324_326delCCA c.(322-327)cag>ca p.HQ108del RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000560209.2_RNA NM_006237.3 NP_006228.3 Q01851 PO4F1_HUMAN POU class 4 homeobox 1 108 Poly-His. axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.H108delH(1) central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1) 16 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.129) TTCGAGCGCCtggtggtggtggt 0.729 3 4 --- --- --- --- TANC2 26115 broad.mit.edu 37 17 61345182 61345190 + In_Frame_Del DEL ACGAATGCC ACGAATGCC - TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr17:61345182_61345190delACGAATGCC ENST00000424789.2 + 7 889_897 c.885_893delACGAATGCC c.(883-894)cta>ct p.LRMP295del TANC2_ENST00000389520.4_In_Frame_Del_p.LRMP295del|AC037445.1_ENST00000581421.1_RNA NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 295 binding p.M297I(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 GAACTTCTCTACGAATGCCAAGACAGAGC 0.483 8 43 --- --- --- --- YIPF2 78992 broad.mit.edu 37 19 11038362 11038364 + In_Frame_Del DEL GCT GCT - TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr19:11038362_11038364delGCT ENST00000586748.1 - 4 393_395 c.221_223delAGC c.(220-225)ccg>c p.QP74del YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del Q9BWQ6 YIPF2_HUMAN Yip1 domain family, member 2 74 integral to membrane|transport vesicle cervix(1)|endometrium(1)|lung(3)|ovary(2) 7 CAGAATCCCGgctgctgctgctg 0.621 7 136 --- --- --- --- BCRP7 100133163 broad.mit.edu 37 22 18843723 18843724 + RNA INS - - A TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr22:18843723_18843724insA ENST00000412938.1 + 0 2337 AGGGGCACCCCACGGCCTGGAG 0.619 4 5 --- --- --- --- EP300-AS1 101927279 broad.mit.edu 37 22 41585696 41585697 + RNA INS - - T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08d0d2a4-d35d-4d63-9027-0995f487d377 aa9e0b6f-0add-4de6-bae3-be1f4e19081d g.chr22:41585696_41585697insT ENST00000420537.1 - 0 223 cctgcTGGCCATTTTTTTTTTC 0.490 2 4 --- --- --- ---