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 PCDH15 65217 broad.mit.edu 37 10 55996666 55996666 + Missense_Mutation SNP G G A TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr10:55996666G>A ENST00000373965.2 - 9 1296 c.902C>T c.(901-903)aCg>aTg p.T301M PCDH15_ENST00000395430.1_Missense_Mutation_p.T301M|PCDH15_ENST00000373957.3_Missense_Mutation_p.T279M|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.T301M|PCDH15_ENST00000395445.1_Missense_Mutation_p.T301M|PCDH15_ENST00000361849.3_Missense_Mutation_p.T301M|PCDH15_ENST00000320301.6_Missense_Mutation_p.T301M|PCDH15_ENST00000437009.1_Missense_Mutation_p.T301M|PCDH15_ENST00000373955.1_Missense_Mutation_p.T301M|PCDH15_ENST00000395438.1_Missense_Mutation_p.T301M|PCDH15_ENST00000414778.1_Missense_Mutation_p.T306M|PCDH15_ENST00000395433.1_Missense_Mutation_p.T279M|PCDH15_ENST00000395442.1_Missense_Mutation_p.T301M|PCDH15_ENST00000395432.2_Missense_Mutation_p.T264M|PCDH15_ENST00000395446.1_Missense_Mutation_p.T301M NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 301 Cadherin 3. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding p.T306M(2)|p.T301M(1) NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GATTGGTGGCGTAACAATAAT 0.403000 HNSCC(58;0.16) 61 70 0 0 1 0 0 KREMEN2 79412 broad.mit.edu 37 16 3014524 3014524 + Translation_Start_Site SNP G G A TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr16:3014524G>A ENST00000572045.1 + 1 308 c.3G>A c.(1-3)atG>atA p.M1I KREMEN2_ENST00000303746.5_Start_Codon_SNP_p.M1I|KREMEN2_ENST00000575769.1_Start_Codon_SNP_p.M1I|KREMEN2_ENST00000575885.1_Start_Codon_SNP_p.M1I|KREMEN2_ENST00000319500.6_Start_Codon_SNP_p.M1I|KREMEN2_ENST00000571007.1_Start_Codon_SNP_p.M1I NM_172229.2 NP_757384.1 Q8NCW0 KREM2_HUMAN kringle containing transmembrane protein 2 1 Wnt receptor signaling pathway integral to membrane central_nervous_system(2)|endometrium(1)|large_intestine(1) 4 TGAGAGCGATGGGGACACAAG 0.687000 36 54 0 0 1 0 0 CACNA1F 778 broad.mit.edu 37 X 49069198 49069198 + Missense_Mutation SNP G G A TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chrX:49069198G>A ENST00000376265.2 - 33 3965 c.3904C>T c.(3904-3906)Cgg>Tgg p.R1302W CACNA1F_ENST00000323022.5_Missense_Mutation_p.R1291W|CACNA1F_ENST00000376251.1_Missense_Mutation_p.R1237W NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1302 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) TTGACCAGCCGCATAACTCGG 0.522000 3 8 0 0 1 0 0 PRPF8 10594 broad.mit.edu 37 17 1560049 1560049 + Missense_Mutation SNP T T C TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr17:1560049T>C ENST00000572621.1 - 34 5777 c.5512A>G c.(5512-5514)Aag>Gag p.K1838E PRPF8_ENST00000304992.6_Missense_Mutation_p.K1838E Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 1838 Involved in interaction with pre-mRNA 5' splice site. 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) GTCTTCCACTTAGCCAACTTA 0.483000 4 29 0 0 1 0 0 PCDHB6 0 broad.mit.edu 37 5 140531513 140531513 + Missense_Mutation SNP G G A TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr5:140531513G>A ENST00000231136.1 + 1 1675 c.1675G>A c.(1675-1677)Gtg>Atg p.V559M PCDHB6_ENST00000543635.1_Missense_Mutation_p.V423M NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 559 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.V559M(1) cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCGCCCTTCGTGTTGTACCC 0.721000 96 79 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178916876 178916876 + Missense_Mutation SNP G G A rs121913287 TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr3:178916876G>A ENST00000263967.3 + 2 420 c.263G>A c.(262-264)cGa>cAa p.R88Q NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 88 PI3K-ABD. R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.R88Q(53) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GAAACAAGACGACTTTGTGAC 0.363000 R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 53 58 0 0 1 0 0 CA6 765 broad.mit.edu 37 1 9011714 9011714 + Silent SNP C C T TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr1:9011714C>T ENST00000319474.2 + 3 516 c.492C>T c.(490-492)agC>agT p.S164S CA6_ENST00000377442.2_Intron|CA6_ENST00000377436.3_Intron|CA6_ENST00000377443.2_Intron|CA6_ENST00000476083.1_Intron P23280 CAH6_HUMAN carbonic anhydrase VI 43 one-carbon metabolic process extracellular region carbonate dehydratase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5) 16 Ovarian(185;0.112)|all_lung(157;0.143) all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649) GGGCTTGCAGCGGCTCCCGCC 0.577000 17 26 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89653846 89653846 + Missense_Mutation SNP C C A TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr10:89653846C>A ENST00000371953.3 + 2 1501 c.144C>A c.(142-144)aaC>aaA p.N48K NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 48 Phosphatase 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.0?(37)|p.?(8)|p.Y27fs*1(2) 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) TATACAGGAACAATATTGATG 0.289000 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) 4 81 0.217242 0.217242 1 1 0 ADCY8 114 broad.mit.edu 37 8 131861907 131861907 + Missense_Mutation SNP G G A TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr8:131861907G>A ENST00000286355.5 - 10 4445 c.2353C>T c.(2353-2355)Cgg>Tgg p.R785W ADCY8_ENST00000377928.3_Intron NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 785 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) ATGACGTTCCGGGCCAAATAG 0.468000 HNSCC(32;0.087) 22 52 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659741 24659741 + RNA SNP G G A rs144618782 by1000genomes TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr22:24659741G>A ENST00000414583.2 + 0 3266 NR_003714.1 CTGTGGGAGGGGGGAATGTTC 0.622000 3 19 0 0 1 0 0 PSPC1 55269 broad.mit.edu 37 13 20325485 20325485 + Missense_Mutation SNP C C T TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr13:20325485C>T ENST00000338910.4 - 4 1052 c.893G>A c.(892-894)aGa>aAa p.R298K NM_001042414.2 NP_001035879.1 Q8WXF1 PSPC1_HUMAN paraspeckle component 1 298 Sufficient for paraspeckles localization.|Sufficient for perinucleolar caps localization and interaction with NONO. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleolus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483) TTTGGCTTCTCTGATGTTTCT 0.418000 11 210 0 0 1 0 0 CTNNB1 1499 broad.mit.edu 37 3 41266124 41266124 + Missense_Mutation SNP A A G rs121913412 TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr3:41266124A>G ENST00000349496.5 + 3 401 c.121A>G c.(121-123)Acc>Gcc p.T41A CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41A NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 41 T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.T41A(550)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41P(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.A39_T42del(1)|p.Y30_A80del(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) TGGTGCCACTACCACAGCTCC 0.507000 T41A(CCK81_LARGE_INTESTINE) 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 16 39 0 0 1 0 0 ZC3H10 84872 broad.mit.edu 37 12 56515289 56515289 + Missense_Mutation SNP A A G TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr12:56515289A>G ENST00000257940.2 + 3 1219 c.943A>G c.(943-945)Act>Gct p.T315A RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA NM_032786.1 NP_116175.1 Q96K80 ZC3HA_HUMAN zinc finger CCCH-type containing 10 315 nucleic acid binding|zinc ion binding breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1) 11 OV - Ovarian serous cystadenocarcinoma(18;0.12) GACTCACACTACTCTCAGCAG 0.597000 26 26 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82544135 82544135 + Silent SNP C C T TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr7:82544135C>T ENST00000423517.2 - 7 13504 c.13167G>A c.(13165-13167)agG>agA p.R4389R PCLO_ENST00000333891.8_Silent_p.R4389R|PCLO_ENST00000437081.1_Silent_p.R1109R NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4320 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CAAACTGATCCCTGGTGTCTG 0.522000 27 33 0 0 1 0 0 DLGAP1 9229 broad.mit.edu 37 18 3879237 3879237 + Missense_Mutation SNP C C T rs113585667 TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr18:3879237C>T ENST00000315677.3 - 4 1427 c.832G>A c.(832-834)Gcc>Acc p.A278T DLGAP1_ENST00000581527.1_Missense_Mutation_p.A278T|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.A278T|DLGAP1_ENST00000515196.2_Missense_Mutation_p.A278T NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 278 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) GAGGACCAGGCGCTCTTCTTC 0.652000 43 44 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35470086 35470086 + Missense_Mutation SNP C C A TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr17:35470086C>A ENST00000353139.5 - 51 6870 c.6389G>T c.(6388-6390)tGg>tTg p.W2130L ACACA_ENST00000394406.2_Missense_Mutation_p.W2093L|ACACA_ENST00000361253.5_Missense_Mutation_p.W219L|ACACA_ENST00000360679.3_Missense_Mutation_p.W2035L|ACACA_ENST00000335166.5_Missense_Mutation_p.W2015L NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 2093 Carboxyltransferase. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) AATCACCACCCAGGAGCCACC 0.557000 26 42 5.45024e-15 6.04481e-15 1 1 0 TRAK1 22906 broad.mit.edu 37 3 42230557 42230557 + Missense_Mutation SNP G G A TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr3:42230557G>A ENST00000327628.5 + 6 1031 c.631G>A c.(631-633)Gat>Aat p.D211N TRAK1_ENST00000449246.1_Missense_Mutation_p.D137N|TRAK1_ENST00000341421.3_Missense_Mutation_p.D153N|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.D153N NM_001042646.2 NP_001036111.1 Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 211 HAP1 N-terminal. endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 CTTTCATTTGGATTCTCTTCA 0.498000 5 44 0 0 1 0 0 DHTKD1 55526 broad.mit.edu 37 10 12131124 12131124 + Missense_Mutation SNP A A G TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr10:12131124A>G ENST00000263035.4 + 5 919 c.857A>G c.(856-858)aAt>aGt p.N286S DHTKD1_ENST00000465617.1_Intron NM_018706.5 NP_061176.3 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 286 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) ATGTTGCCCAATCCCTCGCAC 0.602000 58 77 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1263453 1263453 + Silent SNP G G A TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr11:1263453G>A ENST00000447027.1 + 31 5410 c.5352G>A c.(5350-5352)acG>acA p.T1784T MUC5B_ENST00000529681.1_Silent_p.T1781T Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1781 7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GCCAGGGCACGACCCGCTGTC 0.582000 7 85 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513734 14513734 + Missense_Mutation SNP C C T TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr18:14513734C>T ENST00000358970.5 - 10 1459 c.1460G>A c.(1459-1461)gGa>gAa p.G487E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 487 p.G487E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TTGTGATATTCCAGTGTTCTG 0.323000 5 67 0 0 1 0 0 CCDC39 339829 broad.mit.edu 37 3 180359980 180359980 + Missense_Mutation SNP T T A TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr3:180359980T>A ENST00000273654.4 - 19 2546 c.1927A>T c.(1927-1929)Ata>Tta p.I643L CCDC39_ENST00000442201.2_Missense_Mutation_p.I559L Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 559 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TTGTCCTCTATCATCAAATCC 0.279000 7 14 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7531634 7531634 + Nonsense_Mutation SNP G G A TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr12:7531634G>A ENST00000313599.3 - 9 2368 c.2311C>T c.(2311-2313)Cga>Tga p.R771* CD163L1_ENST00000416109.2_Nonsense_Mutation_p.R781*|CD163L1_ENST00000396630.1_Nonsense_Mutation_p.R771*|CD163L1_ENST00000544331.1_5'UTR Q9NR16 C163B_HUMAN CD163 molecule-like 1 771 SRCR 7. extracellular region|integral to membrane|plasma membrane scavenger receptor activity p.R771*(1) breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CACTCCCATCGTATACAATCC 0.408000 61 57 0 0 1 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12907828 12907828 + Silent SNP G G A TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr1:12907828G>A ENST00000317869.6 - 2 540 c.315C>T c.(313-315)taC>taT p.Y105Y NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 AAGAGGAGCCGTACATCTCCG 0.493000 45 104 0 0 1 0 0 MROH5 389690 broad.mit.edu 37 8 142490102 142490102 + RNA SNP G G A TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr8:142490102G>A ENST00000430863.1 - 0 963 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 TGAAGGATTAGCCCATAGTAG 0.587000 9 19 0 0 1 0 0 OR51Q1 390061 broad.mit.edu 37 11 5444079 5444079 + Missense_Mutation SNP G G T TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr11:5444079G>T ENST00000300778.4 + 1 739 c.649G>T c.(649-651)Gtg>Ttg p.V217L HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron NM_001004757.2 NP_001004757.1 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene) 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTGCTCATTGTGATCTCCTA 0.493000 7 168 2.0095e-06 2.07762e-06 1 1 0 OR5C1 392391 broad.mit.edu 37 9 125551979 125551979 + Silent SNP C C T TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr9:125551979C>T ENST00000373680.2 + 1 830 c.768C>T c.(766-768)taC>taT p.Y256Y NM_001001923.1 NP_001001923.1 Q8NGR4 OR5C1_HUMAN olfactory receptor, family 5, subfamily C, member 1 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1) 20 CCATGATGTACGGGACACTCA 0.602000 4 124 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120969598 120969598 + Missense_Mutation SNP G G A TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr3:120969598G>A ENST00000273666.6 + 15 1700 c.1429G>A c.(1429-1431)Gat>Aat p.D477N STXBP5L_ENST00000471454.1_Missense_Mutation_p.D477N|STXBP5L_ENST00000472879.1_Missense_Mutation_p.D477N|STXBP5L_ENST00000492541.1_Missense_Mutation_p.D477N|STXBP5L_ENST00000497029.1_Missense_Mutation_p.D477N NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 477 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) AAAATTTTGGGATGCTTCTGC 0.289000 9 9 0 0 1 0 0 PLD5 200150 broad.mit.edu 37 1 242383349 242383349 + Missense_Mutation SNP C C T TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr1:242383349C>T ENST00000442594.2 - 6 909 c.400G>A c.(400-402)Gtg>Atg p.V134M PLD5_ENST00000536534.1_Missense_Mutation_p.V226M|PLD5_ENST00000427495.1_Missense_Mutation_p.V164M NM_152666.2 NP_689879.2 Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 226 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) TGTTTGTCCACGATCCAGAAG 0.527000 4 76 0 0 1 0 0 KRT39 390792 broad.mit.edu 37 17 39119985 39119985 + Missense_Mutation SNP C C T TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr17:39119985C>T ENST00000355612.2 - 3 637 c.602G>A c.(601-603)gGc>gAc p.G201D AC004231.2_ENST00000418393.1_RNA NM_213656.3 NP_998821.3 Q6A163 K1C39_HUMAN keratin 39 201 Coil 1B.|Rod. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 17 Breast(137;0.00043)|Ovarian(249;0.15) CTGCTTGAGGCCATTGGCATC 0.502000 4 101 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T T C rs149439944 by1000genomes TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr17:39274291T>C ENST00000391413.2 - 1 315 c.277A>G c.(277-279)Atg>Gtg p.M93V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.M93V(4) 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) TGGCAGCACATAGACTGGCAG 0.662000 5 104 0 0 1 0 0 WDR72 256764 broad.mit.edu 37 15 53889439 53889439 + Silent SNP C C T TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr15:53889439C>T ENST00000396328.1 - 18 3224 c.2985G>A c.(2983-2985)gcG>gcA p.A995A WDR72_ENST00000557913.1_Silent_p.A992A|WDR72_ENST00000559418.1_Silent_p.A1005A|WDR72_ENST00000360509.5_Silent_p.A995A NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 995 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) GTTGAACTTCCGCCAAGAGAA 0.378000 72 106 0 0 1 0 0 NTRK1 4914 broad.mit.edu 37 1 156848943 156848943 + Missense_Mutation SNP C C T TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr1:156848943C>T ENST00000368196.3 + 14 1937 c.1817C>T c.(1816-1818)gCt>gTt p.A606V NTRK1_ENST00000524377.1_Missense_Mutation_p.A612V|NTRK1_ENST00000392302.2_Missense_Mutation_p.A576V|NTRK1_ENST00000358660.3_Missense_Mutation_p.A609V NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 612 Protein kinase. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) AAGCTGCTGGCTGGTGGGGAG 0.637000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 14 31 0 0 1 0 0 GSK3A 2931 broad.mit.edu 37 19 42738561 42738561 + Missense_Mutation SNP C C T TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr19:42738561C>T ENST00000398249.4 - 5 2315 c.602G>A c.(601-603)cGc>cAc p.R201H GSK3A_ENST00000222330.3_Missense_Mutation_p.R283H P49840 GSK3A_HUMAN glycogen synthase kinase 3 alpha 283 Protein kinase. insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process beta-catenin destruction complex|cytosol ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 19 Prostate(69;0.00682) CCGGTAGTAGCGAGAACAGAT 0.587000 5 91 0 0 1 0 0 TNFRSF13B 23495 broad.mit.edu 37 17 16843774 16843774 + Missense_Mutation SNP G G A TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr17:16843774G>A ENST00000437538.2 - 3 367 c.359C>T c.(358-360)aCg>aTg p.T120M TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.T120M|TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.T166M O14836 TR13B_HUMAN tumor necrosis factor receptor superfamily, member 13B 166 cell surface receptor linked signaling pathway integral to plasma membrane protein binding|receptor activity endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1) 16 GAGCCCCAGCGTGCTGTAGAC 0.642000 IgA Deficiency, Selective 25 31 0 0 1 0 0 PCYT2 5833 broad.mit.edu 37 17 79865686 79865686 + Missense_Mutation SNP C C T TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr17:79865686C>T ENST00000538936.2 - 5 563 c.455G>A c.(454-456)cGc>cAc p.R152H PCYT2_ENST00000538721.2_Missense_Mutation_p.R152H|PCYT2_ENST00000331285.3_Missense_Mutation_p.R74H|PCYT2_ENST00000570388.1_Missense_Mutation_p.R74H|PCYT2_ENST00000570391.1_Missense_Mutation_p.R120H|PCYT2_ENST00000571105.1_Missense_Mutation_p.R152H NM_001256435.1|NM_002861.3 NP_001243364.1|NP_002852.1 Q99447 PCY2_HUMAN phosphate cytidylyltransferase 2, ethanolamine 152 Catalytic 1 (Potential). phospholipid biosynthetic process ethanolamine-phosphate cytidylyltransferase activity breast(2)|endometrium(1)|lung(4)|ovary(1) 8 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) CAGCAGCATGCGGCCCACGAG 0.652000 4 61 0 0 1 0 0 TRIM51HP 0 broad.mit.edu 37 11 55065540 55065540 + RNA SNP C C A TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr11:55065540C>A ENST00000526016.1 - 0 168 NR_038174.2 GTTCTTCAAACAAATGTCAGT 0.473000 16 24 1.3612e-06 1.43161e-06 1 1 0 UNC13C 440279 broad.mit.edu 37 15 54804028 54804028 + Splice_Site SNP G G A TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr15:54804028G>A ENST00000545554.1 + 23 5457 c.5457_splice c.e23+1 p.E1819_splice UNC13C_ENST00000260323.11_Splice_Site_p.E1819_splice|UNC13C_ENST00000537900.1_Splice_Site_p.E1817_splice Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1819 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GAGGGAAGGAGGTGGGTATCT 0.353000 7 8 0 0 1 0 0 PROS1 5627 broad.mit.edu 37 3 93646150 93646150 + Missense_Mutation SNP C C T TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr3:93646150C>T ENST00000394236.3 - 2 494 c.178G>A c.(178-180)Gaa>Aaa p.E60K PROS1_ENST00000407433.1_5'UTR NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 60 Gla. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) CACAGTTCTTCGATGCATTCT 0.408000 32 36 0 0 1 0 0 TBC1D2B 23102 broad.mit.edu 37 15 78290635 78290635 + Missense_Mutation SNP C C T rs117285325 by1000genomes TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr15:78290635C>T ENST00000409931.3 - 13 2778 c.2707G>A c.(2707-2709)Gac>Aac p.D903N TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q|TBC1D2B_ENST00000492078.1_5'UTR Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 0 intracellular protein binding|Rab GTPase activator activity p.D903N(3)|p.R920Q(1) breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 GTAGGCGCGTCGGTTCCGGAT 0.617000 4 16 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39227360 39227360 + Missense_Mutation SNP G G A TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr3:39227360G>A ENST00000340369.3 - 2 3805 c.3577C>T c.(3577-3579)Cgg>Tgg p.R1193W XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Intron NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1193 actin binding p.R1193W(1) breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GGCTCCTCCCGCCCTGGCCCA 0.677000 5 52 0 0 1 0 0 SIM1 6492 broad.mit.edu 37 6 100895289 100895289 + Missense_Mutation SNP G G T TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr6:100895289G>T ENST00000369208.3 - 9 1635 c.853C>A c.(853-855)Ctg>Atg p.L285M SIM1_ENST00000262901.4_Missense_Mutation_p.L285M P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 285 PAS 2. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) CCCTTCACCAGCACTGACGGA 0.597000 7 46 5.18039e-06 5.26673e-06 1 1 0 TOE1 114034 broad.mit.edu 37 1 45808866 45808866 + Missense_Mutation SNP G G C TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr1:45808866G>C ENST00000372090.5 + 8 1608 c.1025G>C c.(1024-1026)aGg>aCg p.R342T TOE1_ENST00000495703.1_3'UTR|TOE1_ENST00000539779.1_Missense_Mutation_p.R262T NM_025077.3 NP_079353.3 Q96GM8 TOE1_HUMAN target of EGR1, member 1 (nuclear) 342 nuclear speck|nucleolus nucleic acid binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 11 Acute lymphoblastic leukemia(166;0.155) CGACGACGTAGGGAAAAACGG 0.562000 124 119 0 0 1 0 0 ITGA7 3679 broad.mit.edu 37 12 56092320 56092320 + Missense_Mutation SNP G G A TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr12:56092320G>A ENST00000257880.7 - 8 1390 c.1171C>T c.(1171-1173)Cgc>Tgc p.R391C ITGA7_ENST00000347027.6_Missense_Mutation_p.R347C|ITGA7_ENST00000555728.1_Missense_Mutation_p.R391C|ITGA7_ENST00000553804.1_Missense_Mutation_p.R351C|ITGA7_ENST00000257879.6_Missense_Mutation_p.R347C|ITGA7_ENST00000452168.2_Missense_Mutation_p.R254C|ITGA7_ENST00000394229.2_Missense_Mutation_p.R347C|ITGA7_ENST00000394230.2_Missense_Mutation_p.R351C Q13683 ITA7_HUMAN integrin, alpha 7 391 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 TCTTCTTGGCGCTCAAAGAAG 0.612000 47 62 0 0 1 0 0 EIF4E2 9470 broad.mit.edu 37 2 233431668 233431668 + Missense_Mutation SNP G G C TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr2:233431668G>C ENST00000409514.1 + 5 547 c.505G>C c.(505-507)Gct>Cct p.A169P EIF4E2_ENST00000409495.1_Missense_Mutation_p.A169P|EIF4E2_ENST00000409322.1_Missense_Mutation_p.A124P|EIF4E2_ENST00000258416.3_Missense_Mutation_p.A169P|EIF4E2_ENST00000409394.1_Missense_Mutation_p.A124P|EIF4E2_ENST00000409098.1_Missense_Mutation_p.A169P|EIF4E2_ENST00000409167.3_Missense_Mutation_p.A124P O60573 IF4E2_HUMAN eukaryotic translation initiation factor 4E family member 2 169 regulation of translation cytoplasm|mRNA cap binding complex RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 8 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) GATCTGTGGGGCTGTGGTGTC 0.552000 6 66 0 0 1 0 0 INPP5J 27124 broad.mit.edu 37 22 31530082 31530082 + Missense_Mutation SNP C C T TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr22:31530082C>T ENST00000331075.5 + 13 2747 c.2698C>T c.(2698-2700)Cgg>Tgg p.R900W INPP5J_ENST00000402238.1_Missense_Mutation_p.R239W|INPP5J_ENST00000401755.1_Missense_Mutation_p.R265W|INPP5J_ENST00000405300.1_Missense_Mutation_p.R533W|INPP5J_ENST00000412277.2_Missense_Mutation_p.R833W|INPP5J_ENST00000400294.2_Missense_Mutation_p.R533W|INPP5J_ENST00000404390.3_Missense_Mutation_p.R532W|INPP5J_ENST00000404453.1_Missense_Mutation_p.R265W Q15735 PI5PA_HUMAN inositol polyphosphate-5-phosphatase J 900 Ser-rich. cytoplasm|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 12 GCTTGCCCTACGGCCCTCATC 0.692000 4 4 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10713951 10713952 + Frame_Shift_Ins INS - - CTGGACTCCT TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr1:10713951_10713952insCTGGACTCCT ENST00000377022.3 - 11 2479_2480 c.2162_2163insAGGAGTCCAG c.(2161-2163)aaafs p.-721fs CASZ1_ENST00000344008.5_Frame_Shift_Ins_p.-721fs|RP4-734G22.3_ENST00000606802.1_RNA NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) GGTCGTCGTTGCTGGACTCCTC 0.683 14 75 --- --- --- --- ANKRD36C 400986 broad.mit.edu 37 2 96517462 96517462 + Frame_Shift_Del DEL T T - TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr2:96517462delT ENST00000456556.1 - 66 5377 c.5293delA c.(5293-5295)tcfs p.I1765fs ANKRD36C_ENST00000420871.2_Frame_Shift_Del_p.I1016fs|ANKRD36C_ENST00000419039.2_Frame_Shift_Del_p.I792fs ankyrin repeat domain 36C breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TGCTGCAGGATTTTCTCAAAC 0.313 2 4 --- --- --- --- RP11-649A16.1 0 broad.mit.edu 37 3 146995077 146995077 + RNA DEL A A - TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr3:146995077delA ENST00000473299.1 - 0 132 TCTGGACTGtaaaaaaaaaaa 0.294 3 5 --- --- --- --- ZNF876P 0 broad.mit.edu 37 4 247254 247255 + RNA DEL TA TA - rs34738994 TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr4:247254_247255delTA ENST00000356347.3 + 0 172 NR_027481.1 TTTGTATAAGTATATATATATT 0.287 5 3 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100345610 100345611 + RNA INS - - AA rs71686325 TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr7:100345610_100345611insAA ENST00000542585.1 + 0 1171 ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) gcaagactctgaaaaaaaaaaa 0.505 3 3 --- --- --- --- PRKG1 5592 broad.mit.edu 37 10 52834614 52834614 + Frame_Shift_Del DEL C C - TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr10:52834614delC ENST00000373980.4 + 1 681 c.264delC c.(262-264)atfs p.I88fs PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 74 Dimerization. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) CCTTCGACATCCAGGATCTCA 0.687 13 25 --- --- --- --- RP11-51L5.5 0 broad.mit.edu 37 17 60368314 60368315 + RNA INS - - T TCGA-EJ-A65D-01A-11D-A30E-08 TCGA-EJ-A65D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 955a7101-36b0-4d1d-bd5b-0ab6e3adba5b aa7b8960-9246-483f-a43b-9366501ee804 g.chr17:60368314_60368315insT ENST00000602493.1 - 0 273 AGGAGGAAATGTTTTTGTTATT 0.287 6 7 --- --- --- ---