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 TMEM201 199953 broad.mit.edu 37 1 9661177 9661177 + Silent SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr1:9661177C>T ENST00000340305.5 + 5 630 c.621C>T c.(619-621)gcC>gcT p.A207A TMEM201_ENST00000377376.4_Silent_p.A207A|TMEM201_ENST00000340381.6_Silent_p.A207A NM_001010866.3 NP_001010866.1 Q5SNT2 TM201_HUMAN transmembrane protein 201 207 integral to membrane|nuclear inner membrane lung(3)|upper_aerodigestive_tract(1) 4 all_lung(157;0.222) all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419) TCTCCTCCGCCGTGAAGTCCC 0.652000 37 121 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98581955 98581955 + Missense_Mutation SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr7:98581955G>A ENST00000359863.4 + 60 9483 c.9274G>A c.(9274-9276)Gtc>Atc p.V3092I TRRAP_ENST00000446306.3_Missense_Mutation_p.V3063I|TRRAP_ENST00000355540.3_Missense_Mutation_p.V3063I NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3092 FAT. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GCTGGCAGGCGTCATGGGCAA 0.498000 54 126 0 0 1 0 0 NDNF 79625 broad.mit.edu 37 4 121957767 121957767 + Silent SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr4:121957767G>A ENST00000379692.4 - 4 1885 c.1359C>T c.(1357-1359)atC>atT p.I453I NM_024574.3 NP_078850.3 Q8TB73 CD031_HUMAN neuron-derived neurotrophic factor 453 Fibronectin type-III 2. breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 CAAAGGCTTTGATTCTTGTGT 0.448000 64 61 0 0 1 0 0 HTR3E 285242 broad.mit.edu 37 3 183818194 183818194 + Missense_Mutation SNP C C T rs142990158 byFrequency TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr3:183818194C>T ENST00000335304.2 + 1 228 c.34C>T c.(34-36)Cgc>Tgc p.R12C HTR3E_ENST00000440596.2_Missense_Mutation_p.R12C|HTR3E_ENST00000415389.2_Intron|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000436361.2_Missense_Mutation_p.R12C|HTR3E_ENST00000425359.2_Intron NM_182589.2|NM_198314.2 NP_872395.2|NP_938056.1 A5X5Y0 5HT3E_HUMAN 5-hydroxytryptamine (serotonin) receptor 3E, ionotropic 0 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 40 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) GGCGACCCCACGCCCTGCCTT 0.478000 50 58 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577534 7577534 + Missense_Mutation SNP C C A rs28934571 TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr17:7577534C>A ENST00000420246.2 - 7 879 c.747G>T c.(745-747)agG>agT p.R249S TP53_ENST00000455263.2_Missense_Mutation_p.R249S|TP53_ENST00000413465.2_Missense_Mutation_p.R249S|TP53_ENST00000445888.2_Missense_Mutation_p.R249S|TP53_ENST00000269305.4_Missense_Mutation_p.R249S|TP53_ENST00000359597.4_Missense_Mutation_p.R249S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 249 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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.R249S(348)|p.0?(8)|p.R249R(5)|p.?(5)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R249_P250>SS(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.P250fs*14(1)|p.R249_I251delRPI(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) TGAGGATGGGCCTCCGGTTCA 0.572000 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) 21 1 7.33628e-21 8.0564e-21 1 1 0 ATP5H 10476 broad.mit.edu 37 17 73036197 73036197 + Missense_Mutation SNP T T C TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr17:73036197T>C ENST00000301587.4 - 4 328 c.281A>G c.(280-282)gAa>gGa p.E94G KCTD2_ENST00000581589.1_Intron|ATP5H_ENST00000344546.4_Intron|KCTD2_ENST00000584767.1_Intron NM_006356.2 NP_006347.1 O75947 ATP5H_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d 94 ATP catabolic process|respiratory electron transport chain mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity lung(1)|skin(1) 2 all_lung(278;0.226) ATCTTCTTTTTCTTCGGCATC 0.408000 124 80 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89717672 89717672 + Nonsense_Mutation SNP C C T rs121909219 TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr10:89717672C>T ENST00000371953.3 + 7 2054 c.697C>T c.(697-699)Cga>Tga p.R233* PTEN_ENST00000472832.1_3'UTR NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 233 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R233*(77)|p.0?(37)|p.R55fs*1(5)|p.R233fs*10(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) AGGACCCACACGACGGGAAGA 0.423000 R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM) 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 40 1 0 0 1 0 0 PRKD2 25865 broad.mit.edu 37 19 47207822 47207822 + Missense_Mutation SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr19:47207822G>A ENST00000433867.1 - 5 1073 c.596C>T c.(595-597)aCg>aTg p.T199M PRKD2_ENST00000595515.1_Missense_Mutation_p.T199M|PRKD2_ENST00000600194.1_Missense_Mutation_p.T42M|PRKD2_ENST00000601806.1_Missense_Mutation_p.T42M|PRKD2_ENST00000291281.4_Missense_Mutation_p.T199M NM_001079880.1|NM_001079881.1|NM_016457.4 NP_001073349.1|NP_001073350.1|NP_057541.2 Q9BZL6 KPCD2_HUMAN protein kinase D2 199 cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 41 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) GGCCAGAGACGTGGATGACAG 0.667000 OREG0025578 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 79 0 0 1 0 0 FGB 2244 broad.mit.edu 37 4 155487137 155487137 + Missense_Mutation SNP G G A rs121909620 TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr4:155487137G>A ENST00000302068.4 + 2 355 c.292G>A c.(292-294)Gct>Act p.A98T FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR NM_005141.4 NP_005132.2 P02675 FIBB_HUMAN fibrinogen beta chain 98 A -> T (in Naples and Milano-2; associated with defective thrombin binding and thrombophilia).|Missing (in New York-1). platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) CTGTCTTCACGCTGACCCAGA 0.537000 26 25 0 0 1 0 0 FAM5C 0 broad.mit.edu 37 1 190067975 190067975 + Silent SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr1:190067975G>A ENST00000367462.3 - 8 1705 c.1474C>T c.(1474-1476)Ctg>Ttg p.L492L FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.L390L NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 492 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) AGATCTTGCAGGTCAGTTTCA 0.512000 29 136 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23891485 23891485 + Missense_Mutation SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr14:23891485C>T ENST00000355349.3 - 25 3311 c.3149G>A c.(3148-3150)cGa>cAa p.R1050Q NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1050 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CCGCTTCGCTCGCTCCAGGTC 0.577000 25 23 0 0 1 0 0 NCF2 4688 broad.mit.edu 37 1 183532665 183532665 + Missense_Mutation SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr1:183532665G>A ENST00000413720.1 - 11 1221 c.947C>T c.(946-948)aCg>aTg p.T316M NCF2_ENST00000367535.3_Missense_Mutation_p.T361M|NCF2_ENST00000469280.1_5'UTR|NCF2_ENST00000418089.1_Missense_Mutation_p.T280M|NCF2_ENST00000367536.1_Missense_Mutation_p.T361M NM_001190794.1 NP_001177723.1 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 361 cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 CATGACTACCGTGTACTTGTA 0.547000 69 85 0 0 1 0 0 XYLT1 64131 broad.mit.edu 37 16 17292083 17292083 + Silent SNP G G A rs149300797 TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr16:17292083G>A ENST00000261381.6 - 5 1359 c.1275C>T c.(1273-1275)gcC>gcT p.A425A NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 425 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TGGGGTAGTCGGCCGCACTCA 0.622000 11 66 0 0 1 0 0 BCAT2 587 broad.mit.edu 37 19 49303509 49303509 + Missense_Mutation SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr19:49303509G>A ENST00000402551.1 - 5 846 c.226C>T c.(226-228)Cgc>Tgc p.R76C BCAT2_ENST00000545387.2_Missense_Mutation_p.R24C|BCAT2_ENST00000598162.1_Missense_Mutation_p.R116C|BCAT2_ENST00000597011.1_Missense_Mutation_p.R76C|BCAT2_ENST00000316273.6_Missense_Mutation_p.R116C|BCAT2_ENST00000599246.1_Missense_Mutation_p.R24C O15382 BCAT2_HUMAN branched chain amino-acid transaminase 2, mitochondrial 116 mitochondrial matrix L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 12 all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224) L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114) CGGAAGAGGCGCACCTGCTGG 0.657000 19 99 0 0 1 0 0 COPB1 1315 broad.mit.edu 37 11 14481798 14481798 + Missense_Mutation SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr11:14481798G>A ENST00000249923.3 - 20 2902 c.2602C>T c.(2602-2604)Cac>Tac p.H868Y COPB1_ENST00000439561.2_Missense_Mutation_p.H868Y NM_016451.4 NP_057535.1 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 868 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 36 TTTAATATGTGCTGTAAGTAG 0.358000 14 0 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.657000 4 35 0 0 1 0 0 SLC26A3 1811 broad.mit.edu 37 7 107417136 107417136 + Silent SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr7:107417136C>T ENST00000340010.5 - 14 1714 c.1530G>A c.(1528-1530)acG>acA p.T510T SLC26A3_ENST00000422236.2_Silent_p.T475T NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 510 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 TATTAGCCAGCGTGCTGCATT 0.333000 5 71 0 0 1 0 0 ACIN1 22985 broad.mit.edu 37 14 23530753 23530753 + Missense_Mutation SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr14:23530753G>A ENST00000262710.1 - 17 3679 c.3352C>T c.(3352-3354)Cac>Tac p.H1118Y ACIN1_ENST00000397341.3_Missense_Mutation_p.H360Y|ACIN1_ENST00000605057.1_Missense_Mutation_p.H1060Y|ACIN1_ENST00000457657.1_Missense_Mutation_p.H1078Y|ACIN1_ENST00000557515.1_Missense_Mutation_p.H359Y|ACIN1_ENST00000338631.6_Missense_Mutation_p.H391Y|ACIN1_ENST00000357481.2_Missense_Mutation_p.H360Y|ACIN1_ENST00000555053.1_Missense_Mutation_p.H1105Y NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 1118 Pro-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) GGTGGGGGGTGCAGGGGCCGT 0.662000 6 6 0 0 1 0 0 DIEXF 27042 broad.mit.edu 37 1 210014237 210014237 + Missense_Mutation SNP C C A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr1:210014237C>A ENST00000491415.2 + 8 1379 c.1322C>A c.(1321-1323)cCg>cAg p.P441Q NM_014388.6 NP_055203.4 Q68CQ4 DIEXF_HUMAN digestive organ expansion factor homolog (zebrafish) 441 multicellular organismal development nucleus breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2) 53 CTCTATGCCCCGTTTTACTCC 0.468000 36 40 9.8876e-21 1.0792e-20 1 1 0 INSRR 3645 broad.mit.edu 37 1 156823762 156823762 + Missense_Mutation SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr1:156823762C>T ENST00000368195.3 - 2 815 c.419G>A c.(418-420)cGt>cAt p.R140H NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 140 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTTCTCCACACGCACAGCCCC 0.627000 19 22 0 0 1 0 0 PTBP2 58155 broad.mit.edu 37 1 97217025 97217025 + Silent SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr1:97217025G>A ENST00000236228.6 + 3 166 c.84G>A c.(82-84)ccG>ccA p.P28P PTBP2_ENST00000482253.1_Intron|PTBP2_ENST00000426398.2_Silent_p.P28P|PTBP2_ENST00000394184.3_Silent_p.P39P|PTBP2_ENST00000541987.1_5'UTR|PTBP2_ENST00000370198.1_Silent_p.P28P|PTBP2_ENST00000370197.1_Silent_p.P28P NM_021190.2 NP_067013.1 Q9UKA9 PTBP2_HUMAN polypyrimidine tract binding protein 2 28 nucleotide binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1) 26 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) TCAGTAGTCCGAACTCTAATA 0.348000 75 76 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 31040264 31040264 + Silent SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr19:31040264G>A ENST00000355537.3 + 4 3885 c.3738G>A c.(3736-3738)gcG>gcA p.A1246A NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1246 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.A1246A(1) NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) ACCCCTTGGCGGGCCTGCCAA 0.632000 36 20 0 0 1 0 0 PRPF8 10594 broad.mit.edu 37 17 1582969 1582969 + Missense_Mutation SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr17:1582969G>A ENST00000572621.1 - 8 1488 c.1223C>T c.(1222-1224)cCg>cTg p.P408L PRPF8_ENST00000304992.6_Missense_Mutation_p.P408L Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 408 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) GAAGGGCCGCGGGGCCCAGAG 0.572000 97 5 0 0 1 0 0 KYNU 8942 broad.mit.edu 37 2 143718291 143718291 + Silent SNP T T C TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr2:143718291T>C ENST00000264170.4 + 8 939 c.681T>C c.(679-681)acT>acC p.T227T KYNU_ENST00000409512.1_Silent_p.T227T|KYNU_ENST00000375773.2_Silent_p.T227T NM_003937.2 NP_003928.1 Q16719 KYNU_HUMAN kynureninase 227 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) ATTTTTACACTGGACAGCACT 0.428000 14 56 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91714219 91714219 + Missense_Mutation SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr7:91714219G>A ENST00000359028.2 + 35 9034 c.8809G>A c.(8809-8811)Gaa>Aaa p.E2937K AKAP9_ENST00000358100.2_Intron|AKAP9_ENST00000356239.3_Missense_Mutation_p.E2933K Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 2937 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) AGAAGAAAGTGAAAGTGCAAC 0.368000 T BRAF papillary thyroid 51 106 0 0 1 0 0 CYP1B1 1545 broad.mit.edu 37 2 38301893 38301893 + Silent SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr2:38301893G>A ENST00000260630.3 - 2 1040 c.639C>T c.(637-639)cgC>cgT p.R213R CYP1B1_ENST00000494864.1_Intron|CYP1B1_ENST00000407341.1_Silent_p.R213R NM_000104.3 NP_000095.2 Q16678 CP1B1_HUMAN cytochrome P450, family 1, subfamily B, polypeptide 1 213 visual perception|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1) 13 all_hematologic(82;0.21) Estrone(DB00655) CGTGGCTGTAGCGGCAGCCGA 0.701000 4 14 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 10981913 10981913 + Missense_Mutation SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr5:10981913G>A ENST00000304623.8 - 21 3578 c.3389C>T c.(3388-3390)gCg>gTg p.A1130V CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.A793V|CTNND2_ENST00000511377.1_Missense_Mutation_p.A1039V|CTNND2_ENST00000359640.2_Missense_Mutation_p.A1072V|CTNND2_ENST00000458100.2_Missense_Mutation_p.A697V NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 1130 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TTCAGCGGGCGCACCATAAGA 0.343000 21 57 0 0 1 0 0 MALSU1 115416 broad.mit.edu 37 7 23347508 23347508 + Missense_Mutation SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr7:23347508C>T ENST00000466681.1 + 3 610 c.457C>T c.(457-459)Cgt>Tgt p.R153C NM_138446.1 NP_612455.1 Q96EH3 CG030_HUMAN mitochondrial assembly of ribosomal large subunit 1 153 mitochondrion GAAATGTAAACGTGACCCTCA 0.428000 16 111 0 0 1 0 0 FANCC 2176 broad.mit.edu 37 9 97912337 97912337 + Missense_Mutation SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr9:97912337C>T ENST00000289081.3 - 7 808 c.554G>A c.(553-555)cGa>cAa p.R185Q FANCC_ENST00000375305.1_Missense_Mutation_p.R185Q NM_000136.2 NP_000127.2 Q00597 FANCC_HUMAN Fanconi anemia, complementation group C 185 protein complex assembly cytosol|nucleoplasm protein binding kidney(1)|skin(1)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(62;0.138) GACACAAACTCGTGACAGGGA 0.473000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 9 8 0 0 1 0 0 HAGHL 84264 broad.mit.edu 37 16 778930 778930 + Missense_Mutation SNP G G T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr16:778930G>T ENST00000341413.4 + 7 916 c.635G>T c.(634-636)gGg>gTg p.G212V HAGHL_ENST00000564537.1_3'UTR|HAGHL_ENST00000549114.1_3'UTR|HAGHL_ENST00000564545.1_3'UTR|HAGHL_ENST00000561546.1_Intron|HAGHL_ENST00000389703.3_Intron Q6PII5 HAGHL_HUMAN hydroxyacylglutathione hydrolase-like 212 hydrolase activity|metal ion binding lung(3) 3 Hepatocellular(780;0.00335) AAGAGGGTGGGGGGGGAGGGA 0.652000 4 2 0.000602214 0.000615979 1 1 0 PAPPA2 60676 broad.mit.edu 37 1 176709279 176709279 + Silent SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr1:176709279G>A ENST00000367662.3 + 14 5262 c.4098G>A c.(4096-4098)tcG>tcA p.S1366S NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1366 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.S1366S(1) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TTGGTCTTTCGGCTCCCAGTA 0.507000 33 32 0 0 1 0 0 PCDHB5 0 broad.mit.edu 37 5 140515250 140515250 + Missense_Mutation SNP T T A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr5:140515250T>A ENST00000231134.5 + 1 451 c.234T>A c.(232-234)gaT>gaA p.D78E NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 78 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCAGCTTGATATAAAGACCG 0.502000 37 59 0 0 1 0 0 TMF1 7110 broad.mit.edu 37 3 69093748 69093748 + Splice_Site SNP T T C TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr3:69093748T>C ENST00000543976.1 - 3 1603 c.e3-2 CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000398559.2_Splice_Site|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA NM_007114.2 NP_009045.2 P82094 TMF1_HUMAN TATA element modulatory factor 1 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) TTCAACTGTCTGGATAAGGCG 0.348000 6 19 0 0 1 0 0 PCDHA6 0 broad.mit.edu 37 5 140209479 140209479 + Silent SNP A A G TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr5:140209479A>G ENST00000529310.1 + 1 1917 c.1803A>G c.(1801-1803)tcA>tcG p.S601S PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGCCGACTCAGGCTACAACG 0.662000 5 215 0 0 1 0 0 RASEF 158158 broad.mit.edu 37 9 85615415 85615415 + Missense_Mutation SNP T T C TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr9:85615415T>C ENST00000376447.3 - 11 1768 c.1508A>G c.(1507-1509)cAa>cGa p.Q503R NM_152573.2 NP_689786.2 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 503 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 AACAGACCCTTGGGGCTTCCA 0.443000 4 22 0 0 1 0 0 TFAM 7019 broad.mit.edu 37 10 60154714 60154714 + Silent SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr10:60154714C>T ENST00000487519.1 + 7 1147 c.621C>T c.(619-621)gaC>gaT p.D207D TFAM_ENST00000373899.3_3'UTR|TFAM_ENST00000373895.3_Silent_p.D175D NM_003201.1 NP_003192.1 Q00059 TFAM_HUMAN transcription factor A, mitochondrial 207 DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter mitochondrial nucleoid mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 CTAAAGAGGACGAAACTCGTT 0.289000 3 1 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1083268 1083268 + Missense_Mutation SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr11:1083268G>A ENST00000441003.2 + 16 2195 c.2168G>A c.(2167-2169)cGc>cAc p.R723H MUC2_ENST00000359061.5_Missense_Mutation_p.R723H NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 723 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) TGTTACCACCGCGGTCTCTAC 0.682000 6 11 0 0 1 0 0 TULP4 56995 broad.mit.edu 37 6 158923254 158923254 + Silent SNP T T C TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr6:158923254T>C ENST00000367097.3 + 13 3916 c.2559T>C c.(2557-2559)ccT>ccC p.P853P TULP4_ENST00000367094.2_Intron NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 853 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) CCCCGCCCCCTCTGCCGCCCC 0.652000 3 8 0 0 1 0 0 KNDC1 85442 broad.mit.edu 37 10 135000063 135000063 + Missense_Mutation SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr10:135000063G>A ENST00000304613.3 + 6 1232 c.1211G>A c.(1210-1212)gGg>gAg p.G404E KNDC1_ENST00000368572.2_Missense_Mutation_p.G404E|KNDC1_ENST00000368571.2_Missense_Mutation_p.G339E Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 404 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) CCCAGCCAGGGGCCAGCAGAG 0.662000 38 2 0 0 1 0 0 CD14 929 broad.mit.edu 37 5 140011859 140011859 + Missense_Mutation SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr5:140011859G>A ENST00000302014.6 - 2 1339 c.710C>T c.(709-711)cCc>cTc p.P237L CD14_ENST00000401743.2_Missense_Mutation_p.P237L NM_000591.3 NP_000582.1 P08571 CD14_HUMAN CD14 molecule 237 apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway anchored to membrane|plasma membrane lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity endometrium(1)|large_intestine(1)|lung(3)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACGCCTGTGGGCGTCTCCAT 0.657000 22 76 0 0 1 0 0 PAPD7 11044 broad.mit.edu 37 5 6742670 6742670 + Missense_Mutation SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr5:6742670C>T ENST00000230859.6 + 5 455 c.326C>T c.(325-327)aCg>aTg p.T109M NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 109 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 AACATGGAGACGGGCGTCCGG 0.468000 26 22 0 0 1 0 0 DYNAP 284254 broad.mit.edu 37 18 52265364 52265364 + Silent SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr18:52265364C>T ENST00000321600.1 + 3 667 c.621C>T c.(619-621)acC>acT p.T207T DYNAP_ENST00000585973.1_Silent_p.T155T NM_173629.1 NP_775900.1 dynactin associated protein TTGCACCTACCGATCATTTAT 0.428000 35 44 0 0 1 0 0 CHRNA4 1137 broad.mit.edu 37 20 61981956 61981956 + Silent SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr20:61981956G>A ENST00000370263.4 - 5 1028 c.807C>T c.(805-807)tcC>tcT p.S269S CHRNA4_ENST00000463705.1_5'UTR NM_000744.6|NM_001256573.1 NP_000735.1|NP_001243502.1 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 (neuronal) 269 B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1) 33 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) CGCCACACTCGGAGGGCAGGT 0.602000 20 83 0 0 1 0 0 TYMS 7298 broad.mit.edu 37 18 672902 672902 + Nonsense_Mutation SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr18:672902C>T ENST00000323274.10 + 7 986 c.847C>T c.(847-849)Cga>Tga p.R283* TYMS_ENST00000323250.5_Nonsense_Mutation_p.R200*|TYMS_ENST00000323224.7_Nonsense_Mutation_p.R249*|ENOSF1_ENST00000383578.3_3'UTR|TYMS_ENST00000581920.1_3'UTR|ENOSF1_ENST00000319815.6_3'UTR NM_001071.2 NP_001062.1 P04818 TYSY_HUMAN thymidylate synthetase 283 DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus cytosol thymidylate synthase activity p.R283*(1) endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2) 8 Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432) CAGGATTCTTCGAAAAGTTGA 0.393000 36 37 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133225985 133225985 + Silent SNP G G A rs116482376 by1000genomes TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr12:133225985G>A ENST00000320574.5 - 31 3955 c.3912C>T c.(3910-3912)ccC>ccT p.P1304P POLE_ENST00000535270.1_Silent_p.P1277P NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1304 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GGATGGCCCCGGGCCTGAGCA 0.662000 DNA polymerases (catalytic subunits) 34 38 0 0 1 0 0 CXCL16 58191 broad.mit.edu 37 17 4638656 4638656 + Missense_Mutation SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr17:4638656C>T ENST00000293778.6 - 4 928 c.506G>A c.(505-507)cGc>cAc p.R169H CXCL16_ENST00000574412.1_Missense_Mutation_p.R169H|CXCL16_ENST00000576153.1_5'UTR NM_022059.2 NP_071342.2 Q9H2A7 CXL16_HUMAN chemokine (C-X-C motif) ligand 16 150 lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor extracellular space|integral to membrane|plasma membrane chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 GAGGGTGGGGCGCTGAGTGGA 0.597000 3 24 0 0 1 0 0 ADAM9 8754 broad.mit.edu 37 8 38865443 38865443 + Missense_Mutation SNP A A G TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr8:38865443A>G ENST00000487273.2 + 2 214 c.136A>G c.(136-138)Ata>Gta p.I46V ADAM9_ENST00000481513.1_Missense_Mutation_p.I46V|ADAM9_ENST00000466936.1_Missense_Mutation_p.I46V NM_003816.2 NP_003807.1 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 46 Missing (in Ref. 2; no nucleotide entry). activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway extracellular space|integral to membrane|intrinsic to external side of plasma membrane collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) TTATGAAATTATAACTCCTTG 0.318000 20 21 0 0 1 0 0 SLC20A2 6575 broad.mit.edu 37 8 42275340 42275340 + Missense_Mutation SNP C C A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr8:42275340C>A ENST00000342228.3 - 11 2309 c.1940G>T c.(1939-1941)gGg>gTg p.G647V SLC20A2_ENST00000520179.1_Missense_Mutation_p.G647V|SLC20A2_ENST00000520262.1_Missense_Mutation_p.G647V NM_006749.4 NP_006740.1 Q08357 S20A2_HUMAN solute carrier family 20 (phosphate transporter), member 2 647 interspecies interaction between organisms integral to plasma membrane|membrane fraction inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1) 26 all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869) TGGAAGGATCCCATACATGAG 0.552000 14 56 1.49906e-05 1.56007e-05 1 1 0 UAP1L1 91373 broad.mit.edu 37 9 139972957 139972957 + Silent SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr9:139972957C>T ENST00000409858.3 + 3 530 c.498C>T c.(496-498)taC>taT p.Y166Y UAP1L1_ENST00000476184.1_3'UTR|UAP1L1_ENST00000360271.3_Silent_p.Y43Y NM_207309.2 NP_997192.2 Q3KQV9 UAP1L_HUMAN UDP-N-acteylglucosamine pyrophosphorylase 1-like 1 166 nucleotidyltransferase activity kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) CTTGCAGGTACGTCATGACCA 0.667000 13 18 0 0 1 0 0 SRCIN1 80725 broad.mit.edu 37 17 36707584 36707584 + Silent SNP G G T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr17:36707584G>T ENST00000264659.7 - 15 2993 c.2769C>A c.(2767-2769)acC>acA p.T923T SRCIN1_ENST00000578925.1_Silent_p.T957T|SRCIN1_ENST00000398579.4_5'UTR NM_025248.2 NP_079524.2 Q9C0H9 SRCN1_HUMAN SRC kinase signaling inhibitor 1 795 exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 19 CACTGTACTGGGTCAGGGCTG 0.617000 20 20 1.96292e-10 2.07907e-10 1 1 0 ZNF71 58491 broad.mit.edu 37 19 57133398 57133398 + Missense_Mutation SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr19:57133398G>A ENST00000328070.6 + 3 977 c.743G>A c.(742-744)gGc>gAc p.G248D NM_021216.4 NP_067039.1 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 248 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) GGGGACTGCGGCAAGGCCTTC 0.662000 44 86 0 0 1 0 0 DNAJC14 85406 broad.mit.edu 37 12 56221932 56221932 + Missense_Mutation SNP A A G TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr12:56221932A>G ENST00000357606.3 - 3 800 c.511T>C c.(511-513)Tat>Cat p.Y171H DNAJC14_ENST00000317287.5_Missense_Mutation_p.Y171H|DNAJC14_ENST00000317269.3_Missense_Mutation_p.Y171H Q6Y2X3 DJC14_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 14 171 protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1) 23 TCATCATCATATTCCTCTTCC 0.502000 40 42 0 0 1 0 0 SIL1 64374 broad.mit.edu 37 5 138456752 138456752 + Silent SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr5:138456752C>T ENST00000394817.2 - 3 355 c.216G>A c.(214-216)ccG>ccA p.P72P SIL1_ENST00000265195.5_Silent_p.P72P|SIL1_ENST00000509534.1_Silent_p.P79P NM_022464.4 NP_071909.1 Q9H173 SIL1_HUMAN SIL1 nucleotide exchange factor 72 Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity). intracellular protein transport|protein folding|transmembrane transport endoplasmic reticulum lumen unfolded protein binding endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) ACTCATGCGTCGGGTGGAACA 0.547000 Marinesco-Sjgren syndrome 81 50 0 0 1 0 0 MECP2 4204 broad.mit.edu 37 X 153296733 153296733 + Missense_Mutation SNP T T C TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chrX:153296733T>C ENST00000407218.1 - 5 622 c.437A>G c.(436-438)cAg>cGg p.Q146R MECP2_ENST00000303391.6_Silent_p.P182P|MECP2_ENST00000453960.2_Silent_p.P194P P51608 MECP2_HUMAN methyl CpG binding protein 2 (Rett syndrome) 63 MBD. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent heterochromatin|nucleus double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1) 23 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGCCAGTTCCTGGAGCTTTGG 0.602000 5 213 0 0 1 0 0 TGM5 9333 broad.mit.edu 37 15 43544969 43544969 + Missense_Mutation SNP C C T rs144575810 byFrequency TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr15:43544969C>T ENST00000220420.5 - 6 857 c.850G>A c.(850-852)Gtc>Atc p.V284I TGM5_ENST00000349114.4_Missense_Mutation_p.V202I NM_201631.3 NP_963925.2 O43548 TGM5_HUMAN transglutaminase 5 284 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) GTGCACATGACGGCAGCAAAG 0.587000 102 2 0 0 1 0 0 KIF4A 24137 broad.mit.edu 37 X 69607079 69607079 + Missense_Mutation SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chrX:69607079C>T ENST00000374403.3 + 20 2246 c.2164C>T c.(2164-2166)Cgg>Tgg p.R722W KIF4A_ENST00000374388.3_Missense_Mutation_p.R722W NM_012310.4 NP_036442.3 O95239 KIF4A_HUMAN kinesin family member 4A 722 Interaction with PRC1. anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 51 CCAGAAACAACGGGAGGTTGC 0.438000 3 6 0 0 1 0 0 WDHD1 11169 broad.mit.edu 37 14 55429738 55429738 + Silent SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr14:55429738G>A ENST00000360586.3 - 19 2528 c.2463C>T c.(2461-2463)gcC>gcT p.A821A WDHD1_ENST00000420358.2_Silent_p.A698A|WDHD1_ENST00000421192.1_Silent_p.A698A|WDHD1_ENST00000359167.4_Silent_p.A339A NM_007086.3 NP_009017.1 O75717 WDHD1_HUMAN WD repeat and HMG-box DNA binding protein 1 821 cytoplasm|nucleoplasm DNA binding breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2) 42 CTGTCAATTCGGCTGCCTTCT 0.383000 12 13 0 0 1 0 0 DSC2 1824 broad.mit.edu 37 18 28651725 28651725 + Silent SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr18:28651725G>A ENST00000280904.6 - 13 2414 c.1971C>T c.(1969-1971)ggC>ggT p.G657G DSC2_ENST00000251081.6_Silent_p.G657G NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 657 Cadherin 5. homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) CACTAGACATGCCAAGTCTAT 0.413000 14 16 0 0 1 0 0 ATL3 25923 broad.mit.edu 37 11 63438805 63438805 + Missense_Mutation SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr11:63438805C>T ENST00000332645.4 - 2 158 c.159G>A c.(157-159)atG>atA p.M53I ATL3_ENST00000535789.1_5'UTR|ATL3_ENST00000538786.1_Intron|ATL3_ENST00000398868.3_Start_Codon_SNP_p.M1I Q6DD88 ATLA3_HUMAN atlastin GTPase 3 1 endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 11 GAGGGGACAACATGGAGCCTC 0.687000 3 17 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65134211 65134211 + Missense_Mutation SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr17:65134211C>T ENST00000358691.5 - 22 2955 c.2789G>A c.(2788-2790)cGt>cAt p.R930H HELZ_ENST00000580168.1_Missense_Mutation_p.R931H NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) CTCTTCTACACGTTCCACCAC 0.368000 48 2 0 0 1 0 0 AIM1L 55057 broad.mit.edu 37 1 26669268 26669268 + Missense_Mutation SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr1:26669268C>T ENST00000527815.1 - 4 608 c.559G>A c.(559-561)Ggc>Agc p.G187S AIM1L_ENST00000308182.5_Missense_Mutation_p.G16S NM_001039775.3 NP_001034864.2 Q8N1P7 AIM1L_HUMAN absent in melanoma 1-like 16 Beta/gamma crystallin 'Greek key' 4. sugar binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2) 12 all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239) CTTAGGGAGCCGATGCCTTGG 0.597000 105 112 0 0 1 0 0 PABPC3 5042 broad.mit.edu 37 13 25670421 25670421 + Missense_Mutation SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr13:25670421G>A ENST00000281589.3 + 1 122 c.85G>A c.(85-87)Gag>Aag p.E29K NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 29 RRM 1. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) GATGCTCTACGAGAAGTTCAG 0.627000 55 55 0 0 1 0 0 SH3BP4 23677 broad.mit.edu 37 2 235950972 235950972 + Missense_Mutation SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr2:235950972C>T ENST00000409212.1 + 4 2066 c.1559C>T c.(1558-1560)gCc>gTc p.A520V SH3BP4_ENST00000344528.4_Missense_Mutation_p.A520V|SH3BP4_ENST00000392011.2_Missense_Mutation_p.A520V Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 520 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) GCCCCGGTGGCCCTGCAGCTG 0.567000 12 47 0 0 1 0 0 ERMP1 79956 broad.mit.edu 37 9 5787228 5787228 + Silent SNP A A G TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr9:5787228A>G ENST00000339450.5 - 15 2720 c.2631T>C c.(2629-2631)ccT>ccC p.P877P ERMP1_ENST00000543230.1_3'UTR|ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_3'UTR NM_024896.2 NP_079172.2 Q7Z2K6 ERMP1_HUMAN endoplasmic reticulum metallopeptidase 1 877 proteolysis endoplasmic reticulum membrane|integral to membrane metal ion binding|metallopeptidase activity endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1) 20 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111) CATCCAGTTGAGGGGATCTCT 0.473000 20 26 0 0 1 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1817236 1817236 + Missense_Mutation SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr16:1817236C>T ENST00000250894.4 + 26 3329 c.3172C>T c.(3172-3174)Cgc>Tgc p.R1058C MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R1052C NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 1058 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 TGTGTACGACCGCGTGTGGTG 0.627000 46 122 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128812 45128812 + RNA SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr17:45128812C>T ENST00000575173.1 - 0 418 AGTCCTGTTTCTGTGTGGATT 0.373000 5 24 0 0 1 0 0 TULP4 56995 broad.mit.edu 37 6 158900985 158900985 + Missense_Mutation SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr6:158900985C>T ENST00000367097.3 + 7 2586 c.1229C>T c.(1228-1230)aCt>aTt p.T410I TULP4_ENST00000367094.2_Missense_Mutation_p.T410I NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 410 SOCS box. intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) TACCTCTCCACTGCCTTCATC 0.637000 11 31 0 0 1 0 0 SSU72 29101 broad.mit.edu 37 1 1500071 1500071 + Silent SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr1:1500071C>T ENST00000359060.4 - 2 332 c.306G>A c.(304-306)gcG>gcA p.A102A SSU72_ENST00000291386.3_Intron Q9NP77 SSU72_HUMAN SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) 0 mRNA processing cytoplasm|nucleus phosphoprotein phosphatase activity large_intestine(2)|lung(5) 7 all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) CAGGGTGACACGCCTCCTGTG 0.562000 53 59 0 0 1 0 0 ATAD3C 219293 broad.mit.edu 37 1 1391260 1391260 + Silent SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr1:1391260C>T ENST00000378785.2 + 6 1523 c.528C>T c.(526-528)taC>taT p.Y176Y NM_001039211.2 NP_001034300.2 Q5T2N8 ATD3C_HUMAN ATPase family, AAA domain containing 3C 176 ATP binding|nucleoside-triphosphatase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) TCCTGCTGTACGGGCCACCAG 0.627000 19 31 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3900479 3900479 + Missense_Mutation SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr16:3900479G>A ENST00000262367.5 - 2 1426 c.617C>T c.(616-618)gCg>gTg p.A206V CREBBP_ENST00000382070.3_Missense_Mutation_p.A206V NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 206 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) CATGACTTGCGCCTGCCCTTG 0.552000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 27 48 0 0 1 0 0 DLST 1743 broad.mit.edu 37 14 75359578 75359578 + Missense_Mutation SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr14:75359578G>A ENST00000334220.4 + 8 545 c.484G>A c.(484-486)Gca>Aca p.A162T DLST_ENST00000555190.1_3'UTR|DLST_ENST00000334212.6_Missense_Mutation_p.A76T NM_001933.4 NP_001924.2 P36957 ODO2_HUMAN dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) 162 lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus dihydrolipoyllysine-residue succinyltransferase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(234;0.00698) TCCTGCTGCTGCAGCCCCAAA 0.572000 26 39 0 0 1 0 0 MT-RNR2 0 broad.mit.edu 37 MT 2492 2492 + RNA SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chrM:2492G>A ENST00000387347.2 + 0 822 NR_039705.1 AAACCTTACCCCGCCTGTTTA 0.468000 15 12 0 0 1 0 0 CHD1 1105 broad.mit.edu 37 5 98192247 98192247 + Missense_Mutation SNP T T C TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr5:98192247T>C ENST00000284049.3 - 35 5119 c.4970A>G c.(4969-4971)gAt>gGt p.D1657G NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 1657 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) ATACCTATAATCCCTGGAAGA 0.458000 12 27 0 0 1 0 0 DIS3 22894 broad.mit.edu 37 13 73346315 73346315 + Silent SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr13:73346315G>A ENST00000377767.4 - 10 1585 c.1485C>T c.(1483-1485)ctC>ctT p.L495L DIS3_ENST00000545453.1_Silent_p.L333L|DIS3_ENST00000377780.4_Silent_p.L465L NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 495 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) TTCCATTTTCGAGTTCTCGAC 0.363000 Multiple Myeloma(4;0.011) 19 20 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40368843 40368843 + Missense_Mutation SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr19:40368843C>T ENST00000221347.6 - 28 12512 c.12505G>A c.(12505-12507)Gtg>Atg p.V4169M NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4169 VWFD 10. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CCGTCGGCCACGGAGACAGGC 0.617000 28 320 0 0 1 0 0 PTPN18 26469 broad.mit.edu 37 2 131116491 131116491 + Missense_Mutation SNP G G A rs11892325 byFrequency TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr2:131116491G>A ENST00000175756.5 + 2 246 c.145G>A c.(145-147)Gtg>Atg p.V49M PTPN18_ENST00000347849.3_Intron|PTPN18_ENST00000420717.1_3'UTR NM_014369.3 NP_055184.2 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 18 (brain-derived) 49 Tyrosine-protein phosphatase. cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) GTGCTCCACCGTGGCCGGCAG 0.627000 44 68 0 0 1 0 0 STPG1 90529 broad.mit.edu 37 1 24727829 24727829 + Missense_Mutation SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr1:24727829C>T ENST00000374409.1 - 2 304 c.50G>A c.(49-51)cGt>cAt p.R17H STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000337248.4_Missense_Mutation_p.R17H|STPG1_ENST00000003583.8_Missense_Mutation_p.V10M|STPG1_ENST00000440416.1_Missense_Mutation_p.V10M NM_001199012.1 NP_001185941.1 sperm-tail PG-rich repeat containing 1 TTCACTGGCACGTCTGGGATG 0.418000 3 21 0 0 1 0 0 TMSB15B 286527 broad.mit.edu 37 X 103219162 103219162 + Missense_Mutation SNP A A G TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chrX:103219162A>G ENST00000567181.1 + 2 139 c.67A>G c.(67-69)Act>Gct p.T23A TMSB15B_ENST00000569577.1_Missense_Mutation_p.T23A|TMSB15B_ENST00000436583.1_Missense_Mutation_p.T23A|TMSB15B_ENST00000563257.1_Missense_Mutation_p.T23A|TMSB15B_ENST00000540220.1_Missense_Mutation_p.T23A|TMSB15B_ENST00000419165.1_Missense_Mutation_p.T23A P0CG34 TB15A_HUMAN thymosin beta 15B 23 actin cytoskeleton organization|sequestering of actin monomers cytoplasm|cytoskeleton actin binding skin(1) 1 GAAAACTAATACTGAAGAAAA 0.353000 37 34 0 0 1 0 0 FMN1 342184 broad.mit.edu 37 15 33261469 33261469 + Silent SNP G G T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr15:33261469G>T ENST00000334528.9 - 4 1763 c.1764C>A c.(1762-1764)acC>acA p.T588T FMN1_ENST00000559047.1_Silent_p.T811T|FMN1_ENST00000561249.1_Silent_p.T713T NM_001103184.2 NP_001096654.1 Q68DA7 FMN1_HUMAN formin 1 811 Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity). actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) GCTTGAGGAAGGTCTCTCTGT 0.473000 5 190 0.000602214 0.000615979 1 1 0 BAZ1B 9031 broad.mit.edu 37 7 72907249 72907249 + Missense_Mutation SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr7:72907249C>T ENST00000339594.4 - 5 912 c.574G>A c.(574-576)Gac>Aac p.D192N BAZ1B_ENST00000404251.1_Missense_Mutation_p.D192N NM_032408.3 NP_115784.1 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 192 Mediates the tyrosine-protein kinase activity. ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Lung NSC(55;0.0659)|all_lung(88;0.152) CGTGCTCTGTCATCTAGTCAA 0.348000 23 10 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228547520 228547520 + Silent SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr1:228547520G>A ENST00000284548.11 + 81 19001 c.18927G>A c.(18925-18927)gaG>gaA p.E6309E OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Silent_p.E3428E|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000570156.2_Intron Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 7132 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CGGAGGCCGAGGCCCACTCTC 0.682000 5 11 0 0 1 0 0 KIAA0195 9772 broad.mit.edu 37 17 73492436 73492436 + Missense_Mutation SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr17:73492436G>A ENST00000314256.7 + 24 3521 c.3127G>A c.(3127-3129)Gcc>Acc p.A1043T KIAA0195_ENST00000579208.1_Missense_Mutation_p.A694T|KIAA0195_ENST00000375248.5_Missense_Mutation_p.A1053T NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 1043 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CATCAGCATGGCCCAGGCCTC 0.617000 15 131 0 0 1 0 0 ZEB1 6935 broad.mit.edu 37 10 31815734 31815734 + Missense_Mutation SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr10:31815734G>A ENST00000446923.2 + 9 3260 c.2869G>A c.(2869-2871)Ggg>Agg p.G957R ZEB1_ENST00000320985.10_Missense_Mutation_p.G973R|ZEB1_ENST00000560721.2_Missense_Mutation_p.G953R|ZEB1_ENST00000361642.5_Missense_Mutation_p.G974R|ZEB1_ENST00000542815.3_Missense_Mutation_p.G906R NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 973 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding p.G973W(1) NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) CTCACACTCTGGGTCTTATTC 0.443000 32 0 0 0 1 0 0 IFNLR1 163702 broad.mit.edu 37 1 24484264 24484264 + Nonsense_Mutation SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr1:24484264G>A ENST00000327535.1 - 7 931 c.919C>T c.(919-921)Cga>Tga p.R307* IFNLR1_ENST00000374421.3_Nonsense_Mutation_p.R278*|IFNLR1_ENST00000327575.2_3'UTR NM_170743.3|NM_173064.2 NP_734464.1|NP_775087.1 interferon, lambda receptor 1 GCCCTGACTCGAGGCGTCGGC 0.577000 98 95 0 0 1 0 0 HR 55806 broad.mit.edu 37 8 21986672 21986672 + Silent SNP C C T rs148136587 TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr8:21986672C>T ENST00000381418.4 - 2 1492 c.12G>A c.(10-12)acG>acA p.T4T HR_ENST00000312841.8_Silent_p.T4T NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 4 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GGAAGCTGGGCGTACTCTCCA 0.632000 48 62 0 0 1 0 0 CLIC4 25932 broad.mit.edu 37 1 25140694 25140694 + Missense_Mutation SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr1:25140694G>A ENST00000374379.4 + 3 489 c.292G>A c.(292-294)Gtc>Atc p.V98I CLIC4_ENST00000497755.1_3'UTR NM_013943.2 NP_039234.1 Q9Y696 CLIC4_HUMAN chloride intracellular channel 4 98 Required for insertion into the membrane (Probable). cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction voltage-gated chloride channel activity large_intestine(3)|lung(2)|skin(1) 6 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18) TCTTGAAGAAGTCTTATGCCC 0.403000 46 32 0 0 1 0 0 TADA1 117143 broad.mit.edu 37 1 166829507 166829507 + Missense_Mutation SNP T T C TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr1:166829507T>C ENST00000367874.4 - 6 701 c.608A>G c.(607-609)cAt>cGt p.H203R TADA1_ENST00000467021.1_5'UTR NM_053053.3 NP_444281.1 Q96BN2 TADA1_HUMAN transcriptional adaptor 1 203 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1) 11 ATATTTAAAATGACCATCTCG 0.358000 23 23 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86259071 86259071 + Silent SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr15:86259071C>T ENST00000394518.2 + 20 5747 c.5652C>T c.(5650-5652)acC>acT p.T1884T AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Silent_p.T1888T|AKAP13_ENST00000394510.2_Silent_p.T129T NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 1884 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 TGGATGAAACCGCTACCACCC 0.517000 14 47 0 0 1 0 0 PASK 23178 broad.mit.edu 37 2 242078093 242078093 + Silent SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr2:242078093C>T ENST00000403638.3 - 5 808 c.717G>A c.(715-717)tcG>tcA p.S239S PASK_ENST00000539818.1_Silent_p.S23S|PASK_ENST00000405260.1_Silent_p.S239S|PASK_ENST00000544142.1_Silent_p.S53S|PASK_ENST00000234040.4_Silent_p.S239S|PASK_ENST00000358649.4_Silent_p.S239S NM_001252124.1 NP_001239053.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 239 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) CGACCCAGGTCGAGACCCTCT 0.602000 32 50 0 0 1 0 0 TEKT4 150483 broad.mit.edu 37 2 95537621 95537621 + Silent SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr2:95537621C>T ENST00000295201.4 + 1 434 c.297C>T c.(295-297)caC>caT p.H99H AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Silent_p.H99H NM_144705.2 NP_653306.1 Q8WW24 TEKT4_HUMAN tektin 4 99 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 28 AGGACACGCACAGCTGGAAGT 0.687000 3 16 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76877132 76877132 + Missense_Mutation SNP A A G TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr11:76877132A>G ENST00000409709.3 + 15 1993 c.1721A>G c.(1720-1722)cAt>cGt p.H574R MYO7A_ENST00000458637.2_Missense_Mutation_p.H574R|MYO7A_ENST00000409893.1_Missense_Mutation_p.H574R|MYO7A_ENST00000409619.2_Missense_Mutation_p.H563R NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 574 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GACACCCTGCATGGGGACATT 0.562000 10 33 0 0 1 0 0 NEUROD1 4760 broad.mit.edu 37 2 182543459 182543459 + Silent SNP G G A rs116321775 byFrequency TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr2:182543459G>A ENST00000295108.3 - 2 586 c.129C>T c.(127-129)ctC>ctT p.L43L NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron NM_002500.4 NP_002491.2 Q13562 NDF1_HUMAN neuronal differentiation 1 43 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) TCATGGTTTCGAGGTCGTCCT 0.582000 28 15 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1270130 1270130 + Silent SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr16:1270130C>T ENST00000348261.5 + 35 6446 c.6198C>T c.(6196-6198)agC>agT p.S2066S CACNA1H_ENST00000358590.4_Silent_p.S2060S|CACNA1H_ENST00000565831.1_Silent_p.S2060S NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 2066 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GGCCCGCCAGCGTCCGCACTC 0.721000 16 4 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70225900 70225900 + Missense_Mutation SNP C C T rs150507629 TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr1:70225900C>T ENST00000310961.5 + 4 446 c.28C>T c.(28-30)Cgg>Tgg p.R10W LRRC7_ENST00000370958.1_Missense_Mutation_p.R43W|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Missense_Mutation_p.R5W Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 5 centrosome|focal adhesion|nucleolus protein binding p.R5W(2)|p.R43W(1) breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 GACCACCAAACGGAAAATCAT 0.458000 21 20 0 0 1 0 0 NUDCD3 23386 broad.mit.edu 37 7 44530146 44530146 + Silent SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr7:44530146C>T ENST00000355451.6 - 1 333 c.54G>A c.(52-54)caG>caA p.Q18Q NM_015332.3 NP_056147.2 Q8IVD9 NUDC3_HUMAN NudC domain containing 3 18 endometrium(2)|large_intestine(1)|lung(3)|skin(1) 7 TGCCCACGTGCTGCAGGATGC 0.622000 15 6 0 0 1 0 0 TCTN1 79600 broad.mit.edu 37 12 111064170 111064170 + Silent SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr12:111064170C>T ENST00000551590.1 + 3 501 c.345C>T c.(343-345)ggC>ggT p.G115G TCTN1_ENST00000551555.2_3'UTR|TCTN1_ENST00000471804.2_Silent_p.G115G|TCTN1_ENST00000397659.4_Silent_p.G115G|TCTN1_ENST00000377654.3_5'UTR|TCTN1_ENST00000550703.2_Silent_p.G115G|TCTN1_ENST00000397655.3_Silent_p.G115G Q2MV58 TECT1_HUMAN tectonic family member 1 115 multicellular organismal development extracellular region NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1) 15 ttttCAGGGGCGACAGCCAGT 0.318000 5 1 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135304341 135304341 + Silent SNP T T C TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr7:135304341T>C ENST00000285968.6 + 29 4160 c.4134T>C c.(4132-4134)ccT>ccC p.P1378P NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 1378 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 TCACCTCACCTCCTCCTGAAG 0.438000 7 51 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65342632 65342632 + Silent SNP T T C TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr3:65342632T>C ENST00000402939.2 - 23 3809 c.3810A>G c.(3808-3810)agA>agG p.R1270R MAGI1_ENST00000330909.8_3'UTR NM_001033057.1 NP_001028229.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 1299 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) TGCTATACTCTCTGCTGCCTT 0.587000 31 83 0 0 1 0 0 MT-ND5 4540 broad.mit.edu 37 MT 13177 13177 + Missense_Mutation SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chrM:13177G>A ENST00000361567.2 + 1 841 c.841G>A c.(841-843)Ggc>Agc p.G281S P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 281 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) CACTATGCTTAGGCGCTATCA 0.448000 14 32 0 0 1 0 0 PHF16 0 broad.mit.edu 37 X 46913859 46913859 + Silent SNP G G A rs140782937 byFrequency TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chrX:46913859G>A ENST00000218343.4 + 9 1570 c.1272G>A c.(1270-1272)acG>acA p.T424T PHF16_ENST00000397189.1_Silent_p.T424T NM_014735.3 NP_055550.1 Q92613 JADE3_HUMAN 424 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2) 33 GTATGCCCACGCTAGCTGTGG 0.493000 15 68 0 0 1 0 0 EFCAB12 90288 broad.mit.edu 37 3 129127605 129127605 + Missense_Mutation SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr3:129127605C>T ENST00000505956.1 - 6 1294 c.1132G>A c.(1132-1134)Ggg>Agg p.G378R EFCAB12_ENST00000326085.3_Missense_Mutation_p.G378R NM_207307.1 NP_997190.1 EF-hand calcium binding domain 12 CTCATATCCCCGTGGATGGTG 0.582000 3 11 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56274661 56274661 + Silent SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr18:56274661C>T ENST00000361673.3 - 3 333 c.120G>A c.(118-120)aaG>aaA p.K40K NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 40 Ig-like 1. ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TTACCTCTGGCTTGGGCTGAC 0.348000 16 18 0 0 1 0 0 CDHR5 53841 broad.mit.edu 37 11 619490 619490 + Missense_Mutation SNP C C A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr11:619490C>A ENST00000358353.3 - 12 1599 c.1277G>T c.(1276-1278)gGa>gTa p.G426V CDHR5_ENST00000397542.2_Missense_Mutation_p.G426V|CDHR5_ENST00000349570.7_Missense_Mutation_p.G426V Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 426 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 GTAGAAGGCTCCCGCCTGTGC 0.607000 45 2 6.18754e-15 6.67211e-15 1 1 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 31 0 0 1 0 0 RB1 5925 broad.mit.edu 37 13 48953760 48953760 + Nonsense_Mutation SNP C C T rs121913302 TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr13:48953760C>T ENST00000267163.4 + 14 1501 c.1363C>T c.(1363-1365)Cga>Tga p.R455* NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 455 Domain A.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(8)|p.R455*(7) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTTGTATTACCGAGTAATGGA 0.358000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 2 0 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24885925 24885925 + Missense_Mutation SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr14:24885925C>T ENST00000382554.3 + 9 5288 c.4970C>T c.(4969-4971)aCg>aTg p.T1657M NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1657 Integrase catalytic. DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 TACACACACACGGCTGTGGCC 0.602000 22 22 0 0 1 0 0 AIP 9049 broad.mit.edu 37 11 67254583 67254583 + Missense_Mutation SNP A A G TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr11:67254583A>G ENST00000279146.3 + 2 324 c.206A>G c.(205-207)aAg>aGg p.K69R NM_003977.2 NP_003968.2 O00170 AIP_HUMAN aryl hydrocarbon receptor interacting protein 69 PPIase FKBP-type. protein maturation by protein folding|protein targeting to mitochondrion nucleus signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2) 7 AAGAAGTTCAAGCTGCCTGTG 0.592000 Familial Isolated Pituitary Adenoma 70 102 0 0 1 0 0 SORCS2 57537 broad.mit.edu 37 4 7725501 7725501 + Silent SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr4:7725501C>T ENST00000507866.2 + 19 2611 c.2502C>T c.(2500-2502)acC>acT p.T834T SORCS2_ENST00000329016.9_Silent_p.T662T NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 834 PKD. integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 TTACACTGACCGGGGAGCCCA 0.612000 32 4 0 0 1 0 0 METTL14 57721 broad.mit.edu 37 4 119621741 119621741 + Nonsense_Mutation SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr4:119621741C>T ENST00000388822.4 + 8 849 c.682C>T c.(682-684)Cga>Tga p.R228* METTL14_ENST00000506780.1_Nonsense_Mutation_p.R190* Q9HCE5 MTL14_HUMAN methyltransferase like 14 228 nucleus mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1) 16 TGCAGCACCTCGATCATTTAT 0.338000 24 31 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154157053 154157053 + Missense_Mutation SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chrX:154157053C>T ENST00000360256.4 - 14 5212 c.5012G>A c.(5011-5013)cGt>cAt p.R1671H NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1671 acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AAGAGTAGTACGAGTTATTTC 0.408000 42 43 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86122535 86122535 + Silent SNP G G A rs140888795 TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr15:86122535G>A ENST00000394518.2 + 7 1331 c.1236G>A c.(1234-1236)acG>acA p.T412T RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Silent_p.T412T NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 412 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 TAAAGGGCACGGAAGGCCTTT 0.512000 42 44 0 0 1 0 0 SLC24A2 25769 broad.mit.edu 37 9 19786016 19786016 + Silent SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr9:19786016G>A ENST00000341998.2 - 1 910 c.849C>T c.(847-849)aaC>aaT p.N283N SLC24A2_ENST00000286344.3_Silent_p.N283N NM_001193288.2|NM_020344.3 NP_001180217.1|NP_065077.1 Q9UI40 NCKX2_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 283 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) CTACTTGGACGTTGAATTTCA 0.408000 37 54 0 0 1 0 0 ZNF574 64763 broad.mit.edu 37 19 42584536 42584536 + Missense_Mutation SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr19:42584536G>A ENST00000600245.1 + 2 2433 c.1778G>A c.(1777-1779)cGc>cAc p.R593H ZNF574_ENST00000222339.7_Missense_Mutation_p.R683H|ZNF574_ENST00000359044.4_Missense_Mutation_p.R593H Q6ZN55 ZN574_HUMAN zinc finger protein 574 593 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Prostate(69;0.059) CGTCCTTACCGCCTGCTCATG 0.612000 41 86 0 0 1 0 0 SLC25A27 9481 broad.mit.edu 37 6 46623609 46623609 + Nonsense_Mutation SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr6:46623609C>T ENST00000371347.5 + 2 388 c.136C>T c.(136-138)Cga>Tga p.R46* SLC25A27_ENST00000452689.2_5'UTR|SLC25A27_ENST00000411689.2_Nonsense_Mutation_p.R46* NM_001204051.1|NM_004277.4 NP_001190980.1|NP_004268.3 O95847 UCP4_HUMAN solute carrier family 25, member 27 46 generation of precursor metabolites and energy|transport integral to membrane|mitochondrial inner membrane central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1) 8 Lung(136;0.192) CACAAAAACTCGACTCCAAAT 0.458000 31 32 0 0 1 0 0 KLC1 3831 broad.mit.edu 37 14 104124027 104124027 + Nonsense_Mutation SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr14:104124027C>T ENST00000389744.4 + 3 675 c.406C>T c.(406-408)Cag>Tag p.Q136* KLC1_ENST00000555836.1_Nonsense_Mutation_p.Q136*|KLC1_ENST00000347839.6_Nonsense_Mutation_p.Q136*|RP11-73M18.2_ENST00000472726.2_Nonsense_Mutation_p.Q308*|KLC1_ENST00000452929.2_Nonsense_Mutation_p.Q136*|KLC1_ENST00000348520.6_Nonsense_Mutation_p.Q136*|KLC1_ENST00000553286.1_Nonsense_Mutation_p.Q136*|KLC1_ENST00000554280.1_Nonsense_Mutation_p.Q136*|KLC1_ENST00000557575.1_Nonsense_Mutation_p.Q136*|KLC1_ENST00000334553.6_Nonsense_Mutation_p.Q136*|KLC1_ENST00000445352.4_Nonsense_Mutation_p.Q136*|KLC1_ENST00000380038.3_Nonsense_Mutation_p.Q136*|KLC1_ENST00000246489.7_Nonsense_Mutation_p.Q136*|KLC1_ENST00000557450.1_Nonsense_Mutation_p.Q136* Q07866 KLC1_HUMAN kinesin light chain 1 136 blood coagulation|microtubule-based movement|stress granule disassembly cytosol|kinesin complex|microtubule microtubule motor activity|protein binding KLC1/ALK(2) NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 12 Melanoma(154;0.155)|all_epithelial(191;0.19) GAAGAGTGAGCAGTCTGTGGC 0.507000 27 74 0 0 1 0 0 C5orf15 56951 broad.mit.edu 37 5 133292586 133292586 + Missense_Mutation SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr5:133292586C>T ENST00000231512.3 - 3 964 c.762G>A c.(760-762)atG>atA p.M254I NM_020199.2 NP_064584.1 Q8NC54 KCT2_HUMAN chromosome 5 open reading frame 15 254 integral to membrane endometrium(2)|large_intestine(1)|lung(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02) TCAAAGAAGGCATTGCCTCAT 0.338000 11 52 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr3:195505836G>C ENST00000463781.3 - 2 13074 c.12615C>G c.(12613-12615)caC>caG p.H4205Q MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q 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 3 3 0 0 1 0 0 ATXN1 6310 broad.mit.edu 37 6 16327921 16327921 + Missense_Mutation SNP C C A rs142039862 by1000genomes TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr6:16327921C>A ENST00000244769.4 - 8 1557 c.621G>T c.(619-621)caG>caT p.Q207H ATXN1_ENST00000436367.1_Missense_Mutation_p.Q207H NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 207 Poly-Gln. cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association p.Q207H(2) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) gctgatgctgctgctgctgct 0.662000 3 16 1 1 1 1 0 RASSF5 83593 broad.mit.edu 37 1 206711576 206711576 + Missense_Mutation SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr1:206711576G>A ENST00000338603.2 + 2 590 c.533G>A c.(532-534)cGg>cAg p.R178Q RASSF5_ENST00000367117.3_Missense_Mutation_p.R178Q|RASSF5_ENST00000355294.4_Missense_Mutation_p.R178Q NM_182663.2 NP_872604.1 Q8WWW0 RASF5_HUMAN Ras association (RalGDS/AF-6) domain family member 5 178 apoptosis|intracellular signal transduction cytoplasm|microtubule metal ion binding|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 8 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) GGTTTATCCCGGGACAGACCC 0.567000 134 87 0 0 1 0 0 NSL1 25936 broad.mit.edu 37 1 212964879 212964879 + Missense_Mutation SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr1:212964879G>A ENST00000366977.3 - 1 245 c.227C>T c.(226-228)gCg>gTg p.A76V NSL1_ENST00000473995.1_5'UTR|NSL1_ENST00000366975.6_Missense_Mutation_p.A76V|NSL1_ENST00000422588.2_Missense_Mutation_p.A76V|NSL1_ENST00000366976.1_Missense_Mutation_p.A76V|NSL1_ENST00000366978.1_5'UTR NM_015471.3 NP_056286.3 Q96IY1 NSL1_HUMAN NSL1, MIS12 kinetochore complex component 76 cell division|chromosome segregation|mitotic prometaphase cytosol|MIS12/MIND type complex|nucleus protein binding breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102) TACCCACTGCGCATCTCGCAG 0.582000 5 236 0 0 1 0 0 MAGEA3 4102 broad.mit.edu 37 X 151935381 151935381 + Silent SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chrX:151935381G>A ENST00000393902.3 - 3 1353 c.786C>T c.(784-786)ccC>ccT p.P262P MAGEA3_ENST00000370278.3_Silent_p.P262P P43357 MAGA3_HUMAN melanoma antigen family A, 3 262 MAGE. endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 15 Acute lymphoblastic leukemia(192;6.56e-05) GATCACTGCCGGGGACCTGCC 0.527000 59 179 0 0 1 0 0 GJB3 2707 broad.mit.edu 37 1 35250835 35250835 + Missense_Mutation SNP A A G TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr1:35250835A>G ENST00000373366.2 + 2 1087 c.472A>G c.(472-474)Atg>Gtg p.M158V RP1-34M23.5_ENST00000542839.1_RNA|GJB3_ENST00000373362.3_Missense_Mutation_p.M158V NM_024009.2 NP_076872.1 O75712 CXB3_HUMAN gap junction protein, beta 3, 31kDa 158 cell communication connexon complex|integral to membrane gap junction channel activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) TGGCTTCAATATGCCGCGCCT 0.552000 69 60 0 0 1 0 0 TUBB1 81027 broad.mit.edu 37 20 57599552 57599552 + Missense_Mutation SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr20:57599552C>T ENST00000217133.1 + 4 1339 c.1070C>T c.(1069-1071)cCg>cTg p.P357L NM_030773.3 NP_110400.1 Q9H4B7 TBB1_HUMAN tubulin, beta 1 class VI 357 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2) 16 all_lung(29;0.00711) Colorectal(105;0.109) Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309) TGCGACATCCCGCCCCGGGGG 0.552000 32 48 0 0 1 0 0 GNB1 2782 broad.mit.edu 37 1 1747258 1747258 + Missense_Mutation SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr1:1747258G>A ENST00000378609.4 - 5 471 c.140C>T c.(139-141)aCg>aTg p.T47M NM_002074.3 NP_002065.1 P62873 GBB1_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 1 47 cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission heterotrimeric G-protein complex GTPase activity|GTPase binding|signal transducer activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 12 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236) TGTCCTCCTCGTGCGCATTTG 0.488000 11 29 0 0 1 0 0 EPHA8 2046 broad.mit.edu 37 1 22928123 22928123 + Silent SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr1:22928123C>T ENST00000166244.3 + 17 2979 c.2907C>T c.(2905-2907)gaC>gaT p.D969D NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 969 SAM. integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TTCACAGGGACGTGCGCGCCC 0.697000 5 10 0 0 1 0 0 USP31 57478 broad.mit.edu 37 16 23080502 23080502 + Missense_Mutation SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr16:23080502C>T ENST00000219689.7 - 16 2923 c.2924G>A c.(2923-2925)cGc>cAc p.R975H USP31_ENST00000567975.1_Missense_Mutation_p.R268H NM_020718.3 NP_065769.3 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 975 Ser-rich. ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity p.R975H(1) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) CGGGGGCAGGCGGTCCCCTTG 0.517000 40 52 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65270419 65270419 + Missense_Mutation SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr14:65270419C>T ENST00000389722.3 - 3 433 c.380G>A c.(379-381)cGt>cAt p.R127H SPTB_ENST00000556626.1_Missense_Mutation_p.R127H|SPTB_ENST00000542895.1_Missense_Mutation_p.R127H|SPTB_ENST00000389720.3_Missense_Mutation_p.R127H|SPTB_ENST00000389721.5_Missense_Mutation_p.R127H NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 127 Actin-binding.|CH 1. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CAGGTGTACACGCTGCTCCTT 0.607000 13 43 0 0 1 0 0 FAM179B 23116 broad.mit.edu 37 14 45481246 45481246 + Missense_Mutation SNP T T A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr14:45481246T>A ENST00000361462.2 + 7 3389 c.3206T>A c.(3205-3207)aTt>aAt p.I1069N KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000361577.3_Missense_Mutation_p.I1069N|FAM179B_ENST00000382233.2_Missense_Mutation_p.N991K Q9Y4F4 F179B_HUMAN family with sequence similarity 179, member B 1069 Ser-rich. binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 AAGAAAAAAATTTCTCATATT 0.294000 4 44 0 0 1 0 0 BNC2 54796 broad.mit.edu 37 9 16419174 16419174 + Missense_Mutation SNP T T C TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr9:16419174T>C ENST00000380672.4 - 7 3170 c.3113A>G c.(3112-3114)aAc>aGc p.N1038S BNC2_ENST00000380667.2_Missense_Mutation_p.N971S|BNC2_ENST00000545497.1_Missense_Mutation_p.N943S NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 1038 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) GTGGCAAATGTTGCACATGAT 0.512000 22 29 0 0 1 0 0 KRTAP5-10 387273 broad.mit.edu 37 11 71276918 71276918 + Silent SNP C C T rs36179995 TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr11:71276918C>T ENST00000398531.1 + 1 310 c.285C>T c.(283-285)ggC>ggT p.G95G KRTAP5-10_ENST00000376536.4_Intron NM_001012710.1 NP_001012728.1 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 95 7 X 4 AA repeats of C-C-X-P. keratin filament p.G95G(1) endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 12 GGGGCTGTGGCTCCTGTGGGG 0.687000 7 93 0 0 1 0 0 HNF4A 3172 broad.mit.edu 37 20 43043173 43043173 + Silent SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr20:43043173C>T ENST00000316099.3 + 5 608 c.519C>T c.(517-519)aaC>aaT p.N173N HNF4A_ENST00000415691.1_Silent_p.N173N|HNF4A_ENST00000443598.2_Silent_p.N173N|HNF4A_ENST00000457232.1_Silent_p.N151N NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 173 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CCGGGATCAACGGCGACATTC 0.582000 25 47 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 145075040 145075040 + Missense_Mutation SNP C C A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr1:145075040C>A ENST00000369345.4 - 2 468 c.254G>T c.(253-255)gGc>gTc p.G85V PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369348.3_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CTCCATCCAGCCATCAGGCAG 0.502000 T PDGFRB MPD 6 47 0.00116845 0.00118836 1 1 0 FOXA2 3170 broad.mit.edu 37 20 22563241 22563241 + Missense_Mutation SNP G G C TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr20:22563241G>C ENST00000419308.2 - 2 823 c.621C>G c.(619-621)atC>atG p.I207M FOXA2_ENST00000377115.4_Missense_Mutation_p.I207M|FOXA2_ENST00000319993.4_Missense_Mutation_p.I213M NM_021784.4 NP_068556.2 Q9Y261 FOXA2_HUMAN forkhead box A2 207 cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6 cytoplasm|transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1) 22 Lung NSC(19;0.188) GCGAGTGGCGGATGGAGTTCT 0.617000 61 30 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871064 170871064 + Silent SNP G G A rs112748399 TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr6:170871064G>A ENST00000392092.2 + 3 519 c.240G>A c.(238-240)caG>caA p.Q80Q TBP_ENST00000230354.6_Silent_p.Q80Q|TBP_ENST00000540980.1_Silent_p.Q60Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 80 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.577000 6 51 0 0 1 0 0 MED12 9968 broad.mit.edu 37 X 70344032 70344032 + Missense_Mutation SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chrX:70344032C>T ENST00000333646.6 + 13 1967 c.1768C>T c.(1768-1770)Cgg>Tgg p.R590W MED12_ENST00000374080.3_Missense_Mutation_p.R590W|MED12_ENST00000374102.1_Missense_Mutation_p.R590W NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 590 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) TGAGAGTGAGCGGGTGGAATT 0.473000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 22 29 0 0 1 0 0 TGM7 116179 broad.mit.edu 37 15 43574783 43574783 + Missense_Mutation SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr15:43574783C>T ENST00000452443.2 - 8 1044 c.1040G>A c.(1039-1041)cGg>cAg p.R347Q NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 347 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) GAGATCTTTCCGGATCATCCA 0.552000 3 2 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183721107 183721107 + Missense_Mutation SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr4:183721107G>A ENST00000511685.1 + 28 7826 c.7703G>A c.(7702-7704)cGc>cAc p.R2568H TENM3_ENST00000406950.2_Missense_Mutation_p.R2568H teneurin transmembrane protein 3 ACCAGCGGCCGCAAGGCGCTG 0.642000 15 0 0 0 1 0 0 ZNF83 55769 broad.mit.edu 37 19 53116462 53116462 + Silent SNP A A G TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr19:53116462A>G ENST00000597597.1 - 2 3609 c.1356T>C c.(1354-1356)acT>acC p.T452T ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000544146.1_Silent_p.T452T|ZNF83_ENST00000541777.2_Silent_p.T452T|ZNF83_ENST00000536937.1_Silent_p.T452T|ZNF83_ENST00000545872.1_Silent_p.T452T|ZNF83_ENST00000301096.3_Silent_p.T452T|ZNF83_ENST00000391789.4_Silent_p.T424T P51522 ZNF83_HUMAN zinc finger protein 83 452 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) GTTTCTCTCCAGTGTGAATTT 0.388000 41 211 0 0 1 0 0 APAF1 317 broad.mit.edu 37 12 99053108 99053108 + Missense_Mutation SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr12:99053108C>T ENST00000357310.1 + 5 1274 c.697C>T c.(697-699)Cgc>Tgc p.R233C APAF1_ENST00000359972.2_Missense_Mutation_p.R222C|APAF1_ENST00000333991.1_Missense_Mutation_p.R233C|APAF1_ENST00000549007.1_Missense_Mutation_p.R233C|APAF1_ENST00000339433.3_Missense_Mutation_p.R233C|APAF1_ENST00000550527.1_Missense_Mutation_p.R222C|APAF1_ENST00000547045.1_Missense_Mutation_p.R233C|APAF1_ENST00000552268.1_Missense_Mutation_p.R233C|APAF1_ENST00000551964.1_Missense_Mutation_p.R233C NM_181868.1 NP_863658.1 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 233 NB-ARC. activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) TCTGATGCTTCGCAAACACCC 0.453000 12 10 0 0 1 0 0 PADI1 29943 broad.mit.edu 37 1 17570624 17570624 + Silent SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr1:17570624C>T ENST00000375471.4 + 16 1970 c.1878C>T c.(1876-1878)caC>caT p.H626H PADI1_ENST00000536552.1_Silent_p.H97H|PADI1_ENST00000537499.1_Silent_p.H183H|PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000413717.2_Silent_p.H141H NM_013358.2 NP_037490.2 Q9ULC6 PADI1_HUMAN peptidyl arginine deiminase, type I 626 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) TGGGCCTGCACTGCATCTTCA 0.597000 39 38 0 0 1 0 0 LRRC43 254050 broad.mit.edu 37 12 122672355 122672355 + Silent SNP C C A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr12:122672355C>A ENST00000339777.4 + 4 658 c.630C>A c.(628-630)ccC>ccA p.P210P LRRC43_ENST00000425921.1_Silent_p.P25P NM_152759.4 NP_689972.3 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 210 NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) TTCTAGGCCCCTTGGAAAGTC 0.562000 25 12 1.55811e-20 1.69031e-20 1 1 0 ZNF804B 219578 broad.mit.edu 37 7 88963258 88963258 + Missense_Mutation SNP A A G TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr7:88963258A>G ENST00000333190.4 + 4 1571 c.962A>G c.(961-963)cAt>cGt p.H321R NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 321 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) ATTGGCATTCATGCTTCATTC 0.328000 HNSCC(36;0.09) 14 32 0 0 1 0 0 CDH26 60437 broad.mit.edu 37 20 58587675 58587675 + Missense_Mutation SNP A A G TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr20:58587675A>G ENST00000348616.4 + 18 2689 c.2389A>G c.(2389-2391)Agc>Ggc p.S797G CDH26_ENST00000244049.3_Missense_Mutation_p.S89G|CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000350849.6_Missense_Mutation_p.S130G|CDH26_ENST00000244047.5_Intron NM_177980.2 NP_817089.1 Q8IXH8 CAD26_HUMAN cadherin 26 256 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 44 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) CCCATCCCTCAGCTCTCTGGC 0.537000 65 35 0 0 1 0 0 OR2A14 135941 broad.mit.edu 37 7 143826872 143826872 + Missense_Mutation SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr7:143826872G>A ENST00000408899.2 + 1 722 c.667G>A c.(667-669)Gcc>Acc p.A223T NM_001001659.1 NP_001001659.1 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, member 14 223 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) CATCCTGGCCGCCATCTTGAG 0.607000 5 296 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187509884 187509884 + Silent SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr4:187509884G>A ENST00000441802.2 - 27 13838 c.13629C>T c.(13627-13629)acC>acT p.T4543T NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 4543 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 AGCAGGAGGCGGTGGAGGCGT 0.597000 HNSCC(5;0.00058) 14 1 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 51254739 51254739 + Missense_Mutation SNP C C A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr2:51254739C>A ENST00000404971.1 - 2 2012 c.673G>T c.(673-675)Ggc>Tgc p.G225C NRXN1_ENST00000405472.3_Missense_Mutation_p.G225C|NRXN1_ENST00000401669.2_Missense_Mutation_p.G225C|NRXN1_ENST00000402717.3_Missense_Mutation_p.G225C|NRXN1_ENST00000406859.3_Missense_Mutation_p.G225C|NRXN1_ENST00000405581.1_Missense_Mutation_p.G225C|NRXN1_ENST00000406316.2_Missense_Mutation_p.G225C NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 225 EGF-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) CACACCCCGCCCTCGCCCTCC 0.716000 7 8 0.00198382 0.00200623 1 1 0 LPP 4026 broad.mit.edu 37 3 188590444 188590444 + Nonsense_Mutation SNP C C T TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr3:188590444C>T ENST00000312675.4 + 10 1849 c.1603C>T c.(1603-1605)Cga>Tga p.R535* LPP_ENST00000543006.1_Nonsense_Mutation_p.R535* NM_001167672.1|NM_005578.3 NP_001161144.1|NP_005569.1 Q93052 LPP_HUMAN LIM domain containing preferred translocation partner in lipoma 535 LIM zinc-binding 3. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) ATTTGCCCCGCGATGTTCTGT 0.527000 T """HMGA2, MLL, C12orf9""" """lipoma, leukemia""" 46 2 0 0 1 0 0 DLEC1 9940 broad.mit.edu 37 3 38139340 38139340 + Missense_Mutation SNP G G A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr3:38139340G>A ENST00000308059.6 + 18 2692 c.2671G>A c.(2671-2673)Gcc>Acc p.A891T DLEC1_ENST00000452631.2_Missense_Mutation_p.A891T|DLEC1_ENST00000346219.3_Missense_Mutation_p.A891T Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 891 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) CCAGCTCCCAGCCACATGGCG 0.597000 37 0 0 0 1 0 0 RMDN2 151393 broad.mit.edu 37 2 38178932 38178932 + Missense_Mutation SNP A A G TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr2:38178932A>G ENST00000407257.1 + 2 721 c.574A>G c.(574-576)Aca>Gca p.T192A RMDN2_ENST00000402091.3_Missense_Mutation_p.T192A|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000234195.3_Missense_Mutation_p.T192A regulator of microtubule dynamics 2 GAATTTTGAAACAAACACTAC 0.333000 39 39 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176721178 176721178 + Missense_Mutation SNP C C A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr5:176721178C>A ENST00000439151.2 + 23 6854 c.6809C>A c.(6808-6810)gCa>gAa p.A2270E NSD1_ENST00000347982.4_Missense_Mutation_p.A2001E|NSD1_ENST00000361032.4_Missense_Mutation_p.A2167E|NSD1_ENST00000354179.4_Missense_Mutation_p.A2001E NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 2270 Pro-rich. 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) AAAGCTCTGGCAGGGACTTGT 0.532000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 104 109 1.53058e-52 1.7017e-52 1 1 0 ANK3 288 broad.mit.edu 37 10 61829384 61829384 + Missense_Mutation SNP C C A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr10:61829384C>A ENST00000280772.1 - 37 11446 c.11255G>T c.(11254-11256)tGt>tTt p.C3752F ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3752 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TAATCCCTGACAACTGGTCAT 0.398000 54 6 1.46156e-29 1.61493e-29 1 1 0 ZBTB40 9923 broad.mit.edu 37 1 22838561 22838563 + In_Frame_Del DEL AAG AAG - TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr1:22838561_22838563delAAG ENST00000404138.1 + 12 2906_2908 c.2395_2397delAAG c.(2395-2397)del p.K803del ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 803 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CGATGCCCCCAAGAAGAAGAAGA 0.517 12 114 --- --- --- --- LRRC41 10489 broad.mit.edu 37 1 46751419 46751421 + In_Frame_Del DEL AGA AGA - TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr1:46751419_46751421delAGA ENST00000343304.6 - 4 1393_1395 c.1108_1110delTCT c.(1108-1110)del p.S370del LRRC41_ENST00000472710.1_5'UTR NM_006369.4 NP_006360.3 Q15345 LRC41_HUMAN leucine rich repeat containing 41 370 breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) ATGAGGATGTAGAAGAAGAGGCA 0.606 26 122 --- --- --- --- FPGT-TNNI3K 0 broad.mit.edu 37 1 74797186 74797186 + Frame_Shift_Del DEL T T - TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr1:74797186delT ENST00000370895.1 + 8 835 c.800delT c.(799-801)gtfs p.V267fs TNNI3K_ENST00000370891.2_Frame_Shift_Del_p.V267fs|FPGT-TNNI3K_ENST00000557284.1_Frame_Shift_Del_p.V267fs|FPGT-TNNI3K_ENST00000370899.3_Frame_Shift_Del_p.V267fs|TNNI3K_ENST00000326637.3_Frame_Shift_Del_p.V166fs Q59H18 TNI3K_HUMAN 166 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding CAAGATGCAGTTTTTTTCACT 0.398 12 13 --- --- --- --- LHCGR 3973 broad.mit.edu 37 2 48925846 48925846 + Frame_Shift_Del DEL T T - TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr2:48925846delT ENST00000294954.7 - 9 795 c.774delA c.(772-774)aafs p.K258fs LHCGR_ENST00000405626.1_Frame_Shift_Del_p.K258fs|LHCGR_ENST00000403273.1_Frame_Shift_Del_p.K258fs|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Frame_Shift_Del_p.K258fs|LHCGR_ENST00000344775.3_Intron NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 258 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) TTGATGGCAATTTTTTTAGAG 0.453 14 42 --- --- --- --- CCDC74B-AS1 0 broad.mit.edu 37 2 130893080 130893081 + RNA INS - - A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr2:130893080_130893081insA ENST00000427638.1 + 0 541_542 NR_033903.1 gactccatctcaaaaaaaaaaa 0.564 2 4 --- --- --- --- RP11-553L6.2 0 broad.mit.edu 37 3 113951739 113951739 + RNA DEL C C - rs75864387 TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr3:113951739delC ENST00000493033.1 + 0 160 RP11-553L6.2_ENST00000481773.1_RNA CTGCCCCCTGCCCCCCCCCCA 0.652 2 4 --- --- --- --- KALRN 8997 broad.mit.edu 37 3 124157839 124157840 + Frame_Shift_Ins INS - - C TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr3:124157839_124157840insC ENST00000360013.3 + 18 3274_3275 c.3147_3148insC c.(3145-3150)atccctfs p.IP1049fs KALRN_ENST00000240874.3_Frame_Shift_Ins_p.IP1049fs|KALRN_ENST00000460856.1_Frame_Shift_Ins_p.IP1040fs NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 1049 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 ACCATGTCATTCCCCTCATCAG 0.525 24 27 --- --- --- --- SULT1B1 27284 broad.mit.edu 37 4 70620807 70620807 + Frame_Shift_Del DEL T T - TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr4:70620807delT ENST00000310613.2 - 2 426 c.129delA c.(127-129)atfs p.I43fs NM_014465.3 NP_055280.2 O43704 ST1B1_HUMAN sulfotransferase family, cytosolic, 1B, member 1 43 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1) 24 GATAAGTGGCTATCACAATGT 0.408 64 49 --- --- --- --- ANKIB1 54467 broad.mit.edu 37 7 91936913 91936914 + Frame_Shift_Ins INS - - A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr7:91936913_91936914insA ENST00000265742.3 + 3 805_806 c.429_430insA c.(427-432)aaaaaafs p.KK143fs NM_019004.1 NP_061877.1 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 143 protein binding|zinc ion binding p.N146fs*12(2) cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1) 41 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CTGTTGATAACAAAAAAAACAC 0.361 17 46 --- --- --- --- MDFIC 29969 broad.mit.edu 37 7 114562639 114562641 + In_Frame_Del DEL GAG GAG - TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr7:114562639_114562641delGAG ENST00000257724.3 + 1 431_433 c.168_170delGAG c.(166-171)aag>aa p.KR56del MDFIC_ENST00000448022.1_5'UTR|MDFIC_ENST00000393486.1_5'UTR Q9P1T7 MDFIC_HUMAN MyoD family inhibitor domain containing 0 activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent cytoplasm|nucleolus|nucleus cyclin binding|Tat protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 8 CGGGGCggaagaggaggaggagg 0.709 OREG0003787 type=REGULATORY REGION|Gene=MDFIC|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 2 4 --- --- --- --- AF121898.3 0 broad.mit.edu 37 8 88608731 88608731 + RNA DEL T T - TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr8:88608731delT ENST00000517711.1 - 0 232 AF121898.3_ENST00000518494.1_RNA|AF121898.3_ENST00000440763.2_RNA aatttttgtatttttagtaga 0.547 2 4 --- --- --- --- RANBP6 26953 broad.mit.edu 37 9 6012690 6012690 + Frame_Shift_Del DEL T T - TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr9:6012690delT ENST00000259569.5 - 1 2928 c.2918delA c.(2917-2919)atfs p.N973fs NM_001243202.1|NM_001243203.1|NM_012416.3 NP_001230131.1|NP_001230132.1|NP_036548.1 O60518 RNBP6_HUMAN RAN binding protein 6 973 protein transport cytoplasm|nucleus binding p.N973fs*12(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) AGCAATGACATTTTTTTTGGT 0.358 9 64 --- --- --- --- RP11-764K9.1 0 broad.mit.edu 37 9 68398095 68398095 + RNA DEL C C - rs74487823 TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr9:68398095delC ENST00000417843.2 - 0 2660 CCATGCTTAGCTTGGGTTTCT 0.353 4 6 --- --- --- --- ARHGAP12 94134 broad.mit.edu 37 10 32197365 32197366 + Frame_Shift_Ins INS - - A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr10:32197365_32197366insA ENST00000375250.5 - 3 659_660 c.418_419insT c.(418-420)taafs p.*140fs ARHGAP12_ENST00000311380.4_Frame_Shift_Ins_p.*140fs|ARHGAP12_ENST00000396144.4_Frame_Shift_Ins_p.*140fs|ARHGAP12_ENST00000344936.2_Frame_Shift_Ins_p.*140fs|ARHGAP12_ENST00000375245.4_Frame_Shift_Ins_p.*140fs NM_001270696.1 NP_001257625.1 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 140 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2) 31 Prostate(175;0.0199) ACCTTGATTATAACTGGGTCCA 0.421 57 4 --- --- --- --- USP15 9958 broad.mit.edu 37 12 62786091 62786091 + Frame_Shift_Del DEL A A - TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr12:62786091delA ENST00000280377.5 + 18 2402 c.2344delA c.(2344-2346)aafs p.K783fs USP15_ENST00000393654.3_Frame_Shift_Del_p.K758fs|USP15_ENST00000353364.3_Frame_Shift_Del_p.K754fs NM_001252078.1 NP_001239007.1 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 783 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) TAAACCTCCTAAAAAACCCTT 0.303 13 0 --- --- --- --- RHOF 54509 broad.mit.edu 37 12 122231493 122231494 + Frame_Shift_Del DEL CC CC - TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr12:122231493_122231494delCC ENST00000267205.2 - 1 674_675 c.46_47delGG c.(46-48)cfs p.G16fs RP11-347I19.3_ENST00000545544.1_RNA NM_019034.2 NP_061907.2 Q9HBH0 RHOF_HUMAN ras homolog family member F (in filopodia) 16 actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity large_intestine(1)|lung(1)|ovary(1) 3 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223) CTCCTTCCTGCCCGGACCGGGG 0.733 2 4 --- --- --- --- LATS2 26524 broad.mit.edu 37 13 21562146 21562147 + Frame_Shift_Del DEL CT CT - TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr13:21562146_21562147delCT ENST00000382592.4 - 4 2177_2178 c.1772_1773delAG c.(1771-1773)gfs p.E591fs LATS2_ENST00000542899.1_Frame_Shift_Del_p.E591fs NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 591 cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) TGATGCGTGACTCTCTCTTCTC 0.515 89 105 --- --- --- --- RP11-146E13.4 0 broad.mit.edu 37 14 19858136 19858136 + RNA DEL G G - TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr14:19858136delG ENST00000548109.1 + 0 72 gctcaatgttggggcaaagtg 0.413 2 4 --- --- --- --- RP11-349A22.5 0 broad.mit.edu 37 14 58752231 58752231 + RNA DEL T T - rs74576640 TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr14:58752231delT ENST00000554360.1 - 0 414 RP11-349A22.5_ENST00000553657.1_RNA|RP11-349A22.5_ENST00000556400.1_RNA|RP11-349A22.5_ENST00000556002.1_RNA|RP11-349A22.5_ENST00000555707.1_RNA|RP11-349A22.5_ENST00000555275.1_RNA|RP11-349A22.5_ENST00000554378.1_RNA|RP11-349A22.5_ENST00000557660.1_RNA NR_029434.1 GTACAGTGTCTTTTTTTGTAT 0.353 5 10 --- --- --- --- EXOC3L4 91828 broad.mit.edu 37 14 103568742 103568742 + Frame_Shift_Del DEL C C - TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr14:103568742delC ENST00000380069.3 + 2 758 c.682delC c.(682-684)ccfs p.P229fs NM_001077594.1 NP_001071062.1 Q17RC7 EX3L4_HUMAN exocyst complex component 3-like 4 229 cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1) 10 CCACCCTTCTCCCCCCGACGA 0.771 4 5 --- --- --- --- TMEM121 80757 broad.mit.edu 37 14 105996050 105996052 + In_Frame_Del DEL GCC GCC - rs5811180 TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr14:105996050_105996052delGCC ENST00000392519.2 + 2 1043_1045 c.879_881delGCC c.(877-882)gtg>gt p.VP293del TMEM121_ENST00000431372.1_In_Frame_Del_p.VP293del NM_025268.2 NP_079544.1 Q9BTD3 TM121_HUMAN transmembrane protein 121 293 Pro-rich. integral to membrane endometrium(2)|lung(1) 3 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188) Epithelial(152;0.0959)|all cancers(159;0.235) GCAACTCGGTgccgccgccgccg 0.768 4 3 --- --- --- --- LTK 4058 broad.mit.edu 37 15 41796335 41796336 + Frame_Shift_Ins INS - - G TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr15:41796335_41796336insG ENST00000263800.6 - 20 2549_2550 c.2453_2454insC c.(2452-2454)ccafs p.P818fs LTK_ENST00000355166.5_Frame_Shift_Ins_p.P757fs|LTK_ENST00000561619.1_Frame_Shift_Ins_p.P516fs|LTK_ENST00000453182.2_Frame_Shift_Ins_p.P688fs NM_002344.5 NP_002335.2 P29376 LTK_HUMAN leukocyte receptor tyrosine kinase 818 apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1) 26 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) CCTGGGGCTGTGGGGGTCTTAG 0.604 TSP Lung(18;0.14) 20 20 --- --- --- --- PTX4 390667 broad.mit.edu 37 16 1536186 1536186 + Frame_Shift_Del DEL G G - rs148668779 TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr16:1536186delG ENST00000447419.2 - 3 1216 c.1191delC c.(1189-1191)ccfs p.P397fs PTX4_ENST00000440447.2_3'UTR|PTX4_ENST00000293922.1_Frame_Shift_Del_p.P392fs Q96A99 PTX4_HUMAN pentraxin 4, long 397 Pentaxin. extracellular region metal ion binding p.G393fs*57(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 GGGACCCTCCGGGGGGGATCT 0.667 30 47 --- --- --- --- RP11-439I14.2 0 broad.mit.edu 37 16 64770704 64770705 + RNA INS - - CCAGTGATGGTCACCT rs140029302 by1000genomes TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr16:64770704_64770705insCCAGTGATGGTCACCT ENST00000564293.1 + 0 453_454 TGTCACCACTGCCACCTTGTTC 0.371 3 2 --- --- --- --- SMARCA4 6597 broad.mit.edu 37 19 11141533 11141534 + Frame_Shift_Del DEL TG TG - TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr19:11141533_11141534delTG ENST00000358026.2 + 25 3794_3795 c.3510_3511delTG c.(3508-3513)actgfs p.TV1170fs SMARCA4_ENST00000590574.1_Frame_Shift_Del_p.TV1170fs|SMARCA4_ENST00000541122.2_Frame_Shift_Del_p.TV1170fs|SMARCA4_ENST00000429416.3_Frame_Shift_Del_p.TV1170fs|SMARCA4_ENST00000444061.3_Frame_Shift_Del_p.TV1170fs|SMARCA4_ENST00000450717.3_Frame_Shift_Del_p.TV1170fs|SMARCA4_ENST00000589677.1_Frame_Shift_Del_p.TV1170fs|SMARCA4_ENST00000344626.4_Frame_Shift_Del_p.TV1170fs|SMARCA4_ENST00000413806.3_Frame_Shift_Del_p.TV1170fs NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1170 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) CGGCAGACACTGTGATCATTTT 0.599 """F, N, Mis""" NSCLC 9 1 --- --- --- --- MYBPC2 4606 broad.mit.edu 37 19 50963425 50963425 + Frame_Shift_Del DEL A A - TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr19:50963425delA ENST00000357701.5 + 24 2971 c.2920delA c.(2920-2922)aafs p.K975fs NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 975 Fibronectin type-III 3. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) GAAAGCAGACAAAAAAACCAT 0.592 7 23 --- --- --- --- FPR3 2359 broad.mit.edu 37 19 52327267 52327267 + Frame_Shift_Del DEL A A - TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr19:52327267delA ENST00000339223.4 + 2 445 c.266delA c.(265-267)gafs p.E89fs FPR3_ENST00000595991.1_Frame_Shift_Del_p.E89fs NM_002030.3 NP_002021.3 P25089 FPR3_HUMAN formyl peptide receptor 3 89 cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3) 35 GCCATGAGAGAAAAATGGCCT 0.458 56 231 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11066363 11066363 + RNA DEL T T - rs151040810 TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr21:11066363delT ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) agaggttaaatttccttgttc 0.294 3 6 --- --- --- --- PFKL 5211 broad.mit.edu 37 21 45733884 45733885 + Frame_Shift_Ins INS - - TG TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr21:45733884_45733885insTG ENST00000403390.1 + 8 868_869 c.868_869insTG c.(868-870)gtgfs p.V290fs PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000349048.4_Frame_Shift_Ins_p.V243fs P17858 K6PL_HUMAN phosphofructokinase, liver 243 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Colorectal(79;0.0811) GGAGAACTTCATGTGTGAGAGG 0.668 15 10 --- --- --- --- MICAL3 57553 broad.mit.edu 37 22 18324556 18324556 + Frame_Shift_Del DEL C C - TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chr22:18324556delC ENST00000414725.2 - 20 2916 c.2917delG c.(2917-2919)ccfs p.A973fs MICAL3_ENST00000383094.3_Frame_Shift_Del_p.A945fs|MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000441493.2_Intron|MICAL3_ENST00000207726.7_Frame_Shift_Del_p.A973fs Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 0 Glu-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) ggccgtgtggcgggtGGGCGC 0.662 2 4 --- --- --- --- YY2 404281 broad.mit.edu 37 X 21875706 21875707 + Frame_Shift_Ins INS - - A TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chrX:21875706_21875707insA ENST00000429584.2 + 1 1602_1603 c.1104_1105insA c.(1102-1107)acaaaafs p.TK368fs MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR NM_206923.3 NP_996806.2 O15391 TYY2_HUMAN YY2 transcription factor 368 Mediates transcriptional repression. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2) 19 ATGTGAAGACCAAAAACAACCC 0.470 117 165 --- --- --- --- AMOT 154796 broad.mit.edu 37 X 112035202 112035202 + Frame_Shift_Del DEL T T - TCGA-NA-A4R1-01A-11D-A28R-08 TCGA-NA-A4R1-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b5cd9f8-2ef3-4705-871d-9ca861e99a17 dd776c35-4bb8-48e6-a6d6-66963175fafa g.chrX:112035202delT ENST00000371959.3 - 6 1783 c.1784delA c.(1783-1785)agfs p.K596fs AMOT_ENST00000371958.1_Frame_Shift_Del_p.K364fs|AMOT_ENST00000304758.1_Frame_Shift_Del_p.K187fs|AMOT_ENST00000524145.1_Frame_Shift_Del_p.K596fs|AMOT_ENST00000371962.1_Frame_Shift_Del_p.K364fs NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 596 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 CACTTGCTTCTTTTTCAGCTG 0.473 18 68 --- --- --- ---