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 TTC4 7268 broad.mit.edu 37 1 55207175 55207175 + Missense_Mutation SNP C G G TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr1:55207175C>G uc001cxx.3 + 10 1206 c.1153C>G c.(1153-1155)CAG>GAG p.Q385E C1orf175_uc001cxq.2_RNA|TTC4_uc001cxw.3_Missense_Mutation_p.Q286E|TTC4_uc001cxv.2_Missense_Mutation_p.Q396E NM_004623 NP_004614 O95801 TTC4_HUMAN tetratricopeptide repeat domain 4 385 binding 0 AAAGGTGTACCAGATACGATG 0.517 RPE65 6121 broad.mit.edu 37 1 68905261 68905261 + Missense_Mutation SNP C A A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr1:68905261C>A uc001dei.1 - 7 762 c.708G>T c.(706-708)AAG>AAT p.K236N NM_000329 NP_000320 Q16518 RPE65_HUMAN retinal pigment epithelium-specific protein 236 visual perception cytoplasm|plasma membrane all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity ovary(1) 1 CGTAAGATGGCTTGAATCGGT 0.403 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G A A rs77484671 TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr1:145367767G>A uc001end.3 + 85 10623 c.10588G>A c.(10588-10590)GAA>AAA p.E3530K NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 3455 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.254 RPRD2 23248 broad.mit.edu 37 1 150437160 150437160 + Silent SNP T A A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr1:150437160T>A uc009wlr.2 + 10 1770 c.1569T>A c.(1567-1569)TCT>TCA p.S523S RPRD2_uc010pcc.1_Silent_p.S497S|RPRD2_uc001eup.3_Silent_p.S497S NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Regulation of nuclear pre-mRNA domain containing 523 Ser-rich. protein binding ovary(1) 1 GCATTCTGTCTGCACTTTCCA 0.502 OREG0013786 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SLC9A11 284525 broad.mit.edu 37 1 173526582 173526582 + Missense_Mutation SNP C G G TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr1:173526582C>G uc001giz.2 - 10 1535 c.1112G>C c.(1111-1113)TGG>TCG p.W371S SLC9A11_uc009wwe.2_5'UTR|SLC9A11_uc010pmq.1_RNA NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 371 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 TACAACTCCCCATCGCCAATT 0.368 RYR2 6262 broad.mit.edu 37 1 237791219 237791219 + Silent SNP C T T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr1:237791219C>T uc001hyl.1 + 41 6399 c.6279C>T c.(6277-6279)GAC>GAT p.D2093D NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2093 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGCAGTATGACGGCATTGGGG 0.552 KIAA0913 23053 broad.mit.edu 37 10 75556970 75556970 + Missense_Mutation SNP G A A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr10:75556970G>A uc009xrl.2 + 17 3391 c.3359G>A c.(3358-3360)CGT>CAT p.R1120H KIAA0913_uc001jve.2_Missense_Mutation_p.R1125H|KIAA0913_uc001jvf.2_Missense_Mutation_p.R1120H|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Missense_Mutation_p.R555H|KIAA0913_uc010qkr.1_Missense_Mutation_p.R543H|KIAA0913_uc001jvj.2_Missense_Mutation_p.R543H|KIAA0913_uc009xrn.1_5'Flank NM_015037 NP_055852 A7E2V4 K0913_HUMAN hypothetical protein LOC23053 1120 zinc ion binding breast(1) 1 Prostate(51;0.0112) CTTGGCAGTCGTGGAGGCTAT 0.577 PTEN 5728 broad.mit.edu 37 10 89720661 89720661 + Missense_Mutation SNP T C C rs142420551 TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr10:89720661T>C uc001kfb.2 + 9 1843 c.812T>C c.(811-813)TTT>TCT p.F271S NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 271 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.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.F271S(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.F271fs*5(1)|p.G165_*404del(1)|p.F271L(1)|p.G165_K342del(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 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) GACAAAATGTTTCACTTTTGG 0.249 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) MUC5B 727897 broad.mit.edu 37 11 1273709 1273709 + Silent SNP G A A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr11:1273709G>A uc009ycr.1 + 53 16092 c.15966G>A c.(15964-15966)TCG>TCA p.S5322S MUC5B_uc001ltb.2_Silent_p.S5003S NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 5000 cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 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) CGCTGTCCTCGCCCTCCCCTG 0.682 OR5P2 120065 broad.mit.edu 37 11 7818411 7818411 + Nonsense_Mutation SNP G A A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr11:7818411G>A uc001mfp.1 - 1 79 c.79C>T c.(79-81)CGA>TGA p.R27* NM_153444 NP_703145 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, 27 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2)|central_nervous_system(1) 5 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGGATGACTCGAAGGATTGGA 0.428 OR5W2 390148 broad.mit.edu 37 11 55681277 55681277 + Missense_Mutation SNP C T T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr11:55681277C>T uc010rir.1 - 1 782 c.782G>A c.(781-783)CGG>CAG p.R261Q NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, 261 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R261W(1) ovary(1)|skin(1) 2 AGAACTTGGCCGGAAATACAT 0.443 MAP3K11 4296 broad.mit.edu 37 11 65375157 65375157 + Silent SNP C T T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr11:65375157C>T uc001oew.2 - 4 1693 c.1200G>A c.(1198-1200)AAG>AAA p.K400K MAP3K11_uc001oev.2_5'Flank|MAP3K11_uc010rol.1_Silent_p.K143K|MAP3K11_uc001oex.1_5'UTR NM_002419 NP_002410 Q16584 M3K11_HUMAN mitogen-activated protein kinase kinase kinase 400 activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|lung(1)|central_nervous_system(1)|skin(1) 6 GGATCTCGCGCTTCCAGCCTT 0.617 HEPHL1 341208 broad.mit.edu 37 11 93808410 93808410 + Silent SNP C T T rs61746203 TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr11:93808410C>T uc001pep.2 + 9 1732 c.1575C>T c.(1573-1575)AGC>AGT p.S525S uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 precursor 525 Plastocyanin-like 3.|Extracellular (Potential). copper ion transport integral to membrane copper ion binding|oxidoreductase activity ovary(3) 3 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) TGCCTGAGAGCGTAAGCCCAA 0.468 PDZD3 79849 broad.mit.edu 37 11 119059542 119059542 + Missense_Mutation SNP G T T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr11:119059542G>T uc001pwb.2 + 7 1975 c.1451G>T c.(1450-1452)TGT>TTT p.C484F PDZD3_uc001pvy.2_Missense_Mutation_p.C404F|PDZD3_uc001pvz.2_Missense_Mutation_p.C418F|PDZD3_uc010rzd.1_Missense_Mutation_p.C405F|PDZD3_uc001pwa.2_Missense_Mutation_p.C114F Q86UT5 NHRF4_HUMAN RecName: Full=Na(+)/H(+) exchange regulatory cofactor NHE-RF4; Short=NHERF-4; AltName: Full=PDZ domain-containing protein 3; AltName: Full=PDZ domain-containing protein 2; AltName: Full=Intestinal and kidney-enriched PDZ protein; AltName: Full=Sodium-hydrogen exchanger regulatory factor 4; 484 PDZ 4. cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport apical part of cell|brush border|cytosol|membrane fraction|subapical complex guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding breast(1) 1 all_hematologic(175;0.0977) Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;7.52e-05) CGACTCAGTTGTGTGGCCAGT 0.572 CSDA 8531 broad.mit.edu 37 12 10854621 10854621 + Missense_Mutation SNP G A A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr12:10854621G>A uc001qyt.2 - 8 1234 c.991C>T c.(991-993)CGT>TGT p.R331C CSDA_uc001qyu.2_Missense_Mutation_p.R262C NM_003651 NP_003642 P16989 DBPA_HUMAN cold shock domain protein A isoform a 331 negative regulation of transcription from RNA polymerase II promoter|response to cold cytoplasm|nucleus double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2)|lung(1)|large_intestine(1) 4 Glioma(1;0.155) TTGTAGGGACGCCGGTATCCA 0.567 KRT86 3892 broad.mit.edu 37 12 52699175 52699175 + Nonsense_Mutation SNP G A A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr12:52699175G>A uc010snq.1 + 6 1020 c.887G>A c.(886-888)TGG>TAG p.W296* KRT86_uc009zmg.2_Nonsense_Mutation_p.W296*|KRT81_uc001sac.2_Intron|KRT86_uc001sad.2_Nonsense_Mutation_p.W296* NM_002284 NP_002275 O43790 KRT86_HUMAN keratin 86 296 Rod.|Coil 2. cytoskeleton organization keratin filament structural molecule activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(357;0.189) GCCGAGTCCTGGTACCGCAGC 0.542 PTPRB 5787 broad.mit.edu 37 12 70990028 70990028 + Silent SNP A G G TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr12:70990028A>G uc001swb.3 - 3 435 c.405T>C c.(403-405)TCT>TCC p.S135S PTPRB_uc010sto.1_Silent_p.S135S|PTPRB_uc010stp.1_Silent_p.S135S|PTPRB_uc001swc.3_Silent_p.S353S|PTPRB_uc001swa.3_Silent_p.S353S|PTPRB_uc001swd.3_Silent_p.S352S|PTPRB_uc009zrr.1_Silent_p.S232S|PTPRB_uc001swe.2_Silent_p.S353S NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 135 Fibronectin type-III 2.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CTTTTCCGGAAGAAGGAGTCC 0.408 RIMBP2 23504 broad.mit.edu 37 12 130907060 130907060 + Missense_Mutation SNP C T T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr12:130907060C>T uc001uil.2 - 13 2572 c.2408G>A c.(2407-2409)CGG>CAG p.R803Q NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 803 cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) GGGAAACCTCCGGCCCATGTG 0.567 SACS 26278 broad.mit.edu 37 13 23913301 23913301 + Missense_Mutation SNP T C C TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr13:23913301T>C uc001uon.2 - 10 5303 c.4714A>G c.(4714-4716)ATT>GTT p.I1572V SACS_uc001uoo.2_Missense_Mutation_p.I1425V|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 1572 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CGACTCATAATGATGGGAATG 0.338 RB1 5925 broad.mit.edu 37 13 48941694 48941694 + Nonsense_Mutation SNP T G G TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr13:48941694T>G uc001vcb.2 + 10 1170 c.1004T>G c.(1003-1005)TTA>TGA p.L335* RB1_uc010act.1_Nonsense_Mutation_p.L36* NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 335 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.?(6) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 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) GATGCAAGATTATTTTTGGAT 0.284 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) FARP1 10160 broad.mit.edu 37 13 98865588 98865588 + Missense_Mutation SNP C T T rs113972742 TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr13:98865588C>T uc001vnj.2 + 2 428 c.92C>T c.(91-93)CCG>CTG p.P31L FARP1_uc001vnh.2_Missense_Mutation_p.P31L|FARP1_uc001vni.2_Missense_Mutation_p.P31L NM_005766 NP_005757 Q9Y4F1 FARP1_HUMAN FERM, RhoGEF, and pleckstrin domain protein 1 31 regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(2) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) GGACAGAAGCCGCCCCCAACA 0.537 OR11H12 440153 broad.mit.edu 37 14 19378054 19378054 + Missense_Mutation SNP A C C TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr14:19378054A>C uc010tkp.1 + 1 461 c.461A>C c.(460-462)CAT>CCT p.H154P NM_001013354 NP_001013372 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, 154 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATGACTGGGCATCTCTGTGCC 0.478 DYNC1H1 1778 broad.mit.edu 37 14 102467294 102467294 + Nonsense_Mutation SNP C T T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr14:102467294C>T uc001yks.2 + 19 4242 c.4078C>T c.(4078-4080)CGA>TGA p.R1360* NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 1360 Stem (By similarity).|Potential. cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 TCGACAGCTTCGACAAAATTT 0.373 EHD4 30844 broad.mit.edu 37 15 42193062 42193062 + Silent SNP G A A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr15:42193062G>A uc001zot.2 - 6 1470 c.1407C>T c.(1405-1407)AAC>AAT p.N469N NM_139265 NP_644670 Q9H223 EHD4_HUMAN EH-domain containing 4 469 EH. endocytic recycling|protein homooligomerization early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding ovary(2) 2 all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538) CCTTCTTGGCGTTGACACCTG 0.592 KIF7 374654 broad.mit.edu 37 15 90188330 90188330 + Missense_Mutation SNP C T T rs149078926 byFrequency TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr15:90188330C>T uc002bof.2 - 10 2182 c.2105G>A c.(2104-2106)CGG>CAG p.R702Q KIF7_uc010upw.1_Missense_Mutation_p.R188Q NM_198525 NP_940927 Q2M1P5 KIF7_HUMAN kinesin family member 7 702 Potential. microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway cilium ATP binding|microtubule motor activity|protein binding ovary(2)|lung(1) 3 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) CTGGGCCAGCCGCCACTCTGA 0.652 WASH3P 374666 broad.mit.edu 37 15 102515299 102515299 + Missense_Mutation SNP G A A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr15:102515299G>A uc002cdi.2 + 9 1943 c.523G>A c.(523-525)GGC>AGC p.G175S WASH3P_uc002cdl.2_Missense_Mutation_p.G175S|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.G175S|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA NR_003659 RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2; 0 TGGGGGCATCGGCAAGGCCAA 0.652 NXN 64359 broad.mit.edu 37 17 708351 708351 + Silent SNP G A A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr17:708351G>A uc002fsa.2 - 6 1049 c.957C>T c.(955-957)AAC>AAT p.N319N NXN_uc010vqd.1_Intron|NXN_uc002frz.2_Silent_p.N70N|NXN_uc010vqe.1_Silent_p.N211N NM_022463 NP_071908 Q6DKJ4 NXN_HUMAN nucleoredoxin 319 Thioredoxin. cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway cytosol|nucleus protein-disulfide reductase activity ovary(2)|breast(1)|pancreas(1) 4 UCEC - Uterine corpus endometrioid carcinoma (25;0.0237) GCTGCGCGGCGTTGGAGTCGG 0.692 TP53 7157 broad.mit.edu 37 17 7572986 7572986 + Missense_Mutation SNP G T T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr17:7572986G>T uc002gim.2 - 11 1317 c.1123C>A c.(1123-1125)CAG>AAG p.Q375K TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Missense_Mutation_p.Q243K|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Missense_Mutation_p.Q375K NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 375 Basic (repression of DNA-binding).|Interaction with CARM1. 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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.?(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 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) GAGGTAGACTGACCCTTTTTG 0.527 111 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 Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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) TP53 7157 broad.mit.edu 37 17 7577580 7577580 + Missense_Mutation SNP T C C TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr17:7577580T>C uc002gim.2 - 7 895 c.701A>G c.(700-702)TAC>TGC p.Y234C TP53_uc002gig.1_Missense_Mutation_p.Y234C|TP53_uc002gih.2_Missense_Mutation_p.Y234C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y102C|TP53_uc010cng.1_Missense_Mutation_p.Y102C|TP53_uc002gii.1_Missense_Mutation_p.Y102C|TP53_uc010cnh.1_Missense_Mutation_p.Y234C|TP53_uc010cni.1_Missense_Mutation_p.Y234C|TP53_uc002gij.2_Missense_Mutation_p.Y234C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y141C|TP53_uc002gio.2_Missense_Mutation_p.Y102C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 234 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Y -> F (in a sporadic cancer; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y234C(70)|p.Y234H(13)|p.Y234N(11)|p.0?(7)|p.Y234S(6)|p.Y234*(4)|p.Y234D(3)|p.Y234del(3)|p.Y234fs*2(1)|p.V225fs*23(1)|p.Y234fs*6(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.Y234R(1)|p.Y234Y(1)|p.H233_C242del10(1)|p.D228fs*12(1)|p.Y234F(1)|p.I232_Y236delIHYNY(1)|p.Y141S(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234_N235insX(1)|p.I232fs*5(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 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) CATGTAGTTGTAGTGGATGGT 0.572 111 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 Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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) TBC1D3 729873 broad.mit.edu 37 17 36288289 36288289 + Silent SNP C T T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr17:36288289C>T uc002hoo.2 + 6 532 c.375C>T c.(373-375)CCC>CCT p.P125P TBC1D3_uc002hop.2_RNA|TBC1D3_uc010wdj.1_Silent_p.P45P|TBC1D3_uc010cvf.1_Silent_p.P125P|TBC1D3_uc002hoq.2_Silent_p.P125P|TBC1D3_uc010wdk.1_Silent_p.P186P|uc002hpl.2_5'Flank|uc002hor.2_5'Flank NM_032258 NP_115634 Q8IZP1 TBC3A_HUMAN TBC1 domain family, member 3F 125 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 Breast(7;2.97e-12) Breast(25;0.102)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TGAAAAACCCCGGAAGATACC 0.572 GRB7 2886 broad.mit.edu 37 17 37901165 37901165 + Missense_Mutation SNP G C C TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr17:37901165G>C uc002hsr.2 + 9 1189 c.939G>C c.(937-939)AAG>AAC p.K313N GRB7_uc002hss.2_Missense_Mutation_p.K313N|GRB7_uc010cwc.2_Missense_Mutation_p.K313N|GRB7_uc002hst.2_Missense_Mutation_p.K313N NM_005310 NP_005301 Q14451 GRB7_HUMAN growth factor receptor-bound protein 7 313 PH. blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly cytosol|focal adhesion|stress granule phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity lung(2)|ovary(1)|breast(1)|skin(1) 5 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) ATGGCCACAAGGGGCTTCGGA 0.582 KRT25 147183 broad.mit.edu 37 17 38910206 38910206 + Missense_Mutation SNP A G G TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr17:38910206A>G uc002hve.2 - 3 636 c.575T>C c.(574-576)GTT>GCT p.V192A NM_181534 NP_853512 Q7Z3Z0 K1C25_HUMAN keratin 25 192 Rod.|Coil 1B. cytoplasm|intermediate filament structural molecule activity ovary(2) 2 Breast(137;0.00526) TTCATCCAAAACTCTTCGTAA 0.403 INTS2 57508 broad.mit.edu 37 17 59946709 59946709 + Silent SNP G A A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr17:59946709G>A uc002izn.2 - 22 3163 c.3087C>T c.(3085-3087)GTC>GTT p.V1029V INTS2_uc002izm.2_Silent_p.V1021V NM_020748 NP_065799 Q9H0H0 INT2_HUMAN integrator complex subunit 2 1029 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding ovary(1)|lung(1)|pancreas(1) 3 GAATACCTGCGACCGTCAGAG 0.333 MRPS7 51081 broad.mit.edu 37 17 73258939 73258939 + Silent SNP C T T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr17:73258939C>T uc002jnm.3 + 3 563 c.330C>T c.(328-330)CTC>CTT p.L110L GGA3_uc002jni.1_5'Flank|GGA3_uc002jnj.1_5'Flank|GGA3_uc010wrw.1_5'Flank|GGA3_uc002jnk.1_5'Flank|GGA3_uc010wrx.1_5'Flank|GGA3_uc010wry.1_5'Flank|GGA3_uc010wrz.1_5'Flank|MRPS7_uc002jnl.2_Silent_p.L110L|MRPS7_uc002jnn.3_Silent_p.L139L NM_015971 NP_057055 Q9Y2R9 RT07_HUMAN mitochondrial ribosomal protein S7 precursor 110 translation cytosolic small ribosomal subunit|mitochondrion protein binding|RNA binding|structural constituent of ribosome central_nervous_system(1) 1 all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07) all cancers(21;3.02e-07)|Epithelial(20;2.92e-06) CCAGATCCCTCATGATTCAGG 0.448 GAMT 2593 broad.mit.edu 37 19 1397419 1397419 + Missense_Mutation SNP G A A rs139890971 TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr19:1397419G>A uc002lsj.2 - 6 727 c.650C>T c.(649-651)CCG>CTG p.P217L uc002lsi.1_5'Flank NM_000156 NP_000147 Q14353 GAMT_HUMAN guanidinoacetate N-methyltransferase isoform a 217 creatine biosynthetic process|muscle contraction cytosol guanidinoacetate N-methyltransferase activity 0 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Creatine(DB00148) GCAGTCGGCCGGTGGGACCAG 0.701 TJP3 27134 broad.mit.edu 37 19 3738562 3738562 + Missense_Mutation SNP G A A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr19:3738562G>A uc010xhv.1 + 11 1393 c.1393G>A c.(1393-1395)GTG>ATG p.V465M TJP3_uc010xhs.1_Missense_Mutation_p.V432M|TJP3_uc010xht.1_Missense_Mutation_p.V396M|TJP3_uc010xhu.1_Missense_Mutation_p.V441M|TJP3_uc010xhw.1_Missense_Mutation_p.V451M NM_014428 NP_055243 O95049 ZO3_HUMAN tight junction protein 3 446 PDZ 3. tight junction protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) GGTGAATGACGTGCCATTCCA 0.577 PNPLA6 10908 broad.mit.edu 37 19 7607932 7607932 + Missense_Mutation SNP G A A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr19:7607932G>A uc010xjq.1 + 15 1792 c.1597G>A c.(1597-1599)GCC>ACC p.A533T PNPLA6_uc002mgq.1_Missense_Mutation_p.A485T|PNPLA6_uc010xjp.1_Intron|PNPLA6_uc002mgr.1_Missense_Mutation_p.A485T|PNPLA6_uc002mgs.2_Missense_Mutation_p.A524T NM_006702 NP_006693 Q8IY17 PLPL6_HUMAN neuropathy target esterase isoform b 524 cNMP 2.|Cytoplasmic (Potential). cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity ovary(3) 3 GCTGCACCACGCCAAAGCTGG 0.627 SLC1A6 6511 broad.mit.edu 37 19 15067342 15067342 + Missense_Mutation SNP G C C TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr19:15067342G>C uc002naa.1 - 6 1123 c.1115C>G c.(1114-1116)CCC>CGC p.P372R SLC1A6_uc010dzu.1_Intron|SLC1A6_uc010xod.1_Missense_Mutation_p.P308R NM_005071 NP_005062 P48664 EAA4_HUMAN solute carrier family 1 (high affinity 372 Helical; (Potential). synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity pancreas(3)|ovary(2)|skin(1) 6 L-Glutamic Acid(DB00142) CCCAATGAAGGGGAAGGGGTT 0.592 RASAL3 64926 broad.mit.edu 37 19 15574925 15574925 + Missense_Mutation SNP C T T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr19:15574925C>T uc002nbe.2 - 2 331 c.245G>A c.(244-246)CGC>CAC p.R82H NM_022904 NP_075055 Q86YV0 RASL3_HUMAN RAS protein activator like 3 82 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity 0 GAGTCGAAGGCGACTGGTCCG 0.672 F2RL3 9002 broad.mit.edu 37 19 17000842 17000842 + Missense_Mutation SNP C T T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr19:17000842C>T uc002nfa.2 + 2 743 c.568C>T c.(568-570)CGG>TGG p.R190W NM_003950 NP_003941 Q96RI0 PAR4_HUMAN coagulation factor II (thrombin) receptor-like 3 190 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol extracellular region|integral to plasma membrane thrombin receptor activity 0 CCTGCGTGGCCGGCGCCTGGC 0.711 FAM98C 147965 broad.mit.edu 37 19 38899502 38899504 + In_Frame_Del DEL AAG - - TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr19:38899502_38899504delAAG uc002oin.1 + 8 1049_1051 c.1030_1032delAAG c.(1030-1032)AAGdel p.K349del FAM98C_uc002oio.1_In_Frame_Del_p.K267del|FAM98C_uc010xtz.1_3'UTR NM_174905 NP_777565 Q17RN3 FA98C_HUMAN hypothetical protein LOC147965 349 skin(1) 1 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TTGGGGTCGCAAGAAGAAGAAGA 0.606 RASGRP4 115727 broad.mit.edu 37 19 38909096 38909096 + Missense_Mutation SNP C G G TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr19:38909096C>G uc002oir.2 - 7 986 c.772G>C c.(772-774)GTG>CTG p.V258L RASGRP4_uc010efz.1_RNA|RASGRP4_uc010ega.1_RNA|RASGRP4_uc010xua.1_Missense_Mutation_p.V258L|RASGRP4_uc010xub.1_Missense_Mutation_p.V224L|RASGRP4_uc010xuc.1_Missense_Mutation_p.V258L|RASGRP4_uc010xud.1_Intron|RASGRP4_uc010xue.1_Intron|RASGRP4_uc010egb.2_Missense_Mutation_p.V244L NM_170604 NP_733749 Q8TDF6 GRP4_HUMAN RAS guanyl releasing protein 4 isoform a 258 Ras-GEF. activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|membrane fraction|plasma membrane|soluble fraction diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity pancreas(1)|lung(1)|skin(1) 3 all_cancers(60;4.21e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CGGCTCAGCACCATCACCTGC 0.662 SIGLEC10 89790 broad.mit.edu 37 19 51919569 51919569 + Missense_Mutation SNP G A A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr19:51919569G>A uc002pwo.2 - 4 1365 c.749C>T c.(748-750)ACG>ATG p.T250M SIGLEC10_uc002pwp.2_Missense_Mutation_p.T192M|SIGLEC10_uc002pwq.2_Missense_Mutation_p.T192M|SIGLEC10_uc002pwr.2_Missense_Mutation_p.T250M|SIGLEC10_uc010ycy.1_Missense_Mutation_p.T250M|SIGLEC10_uc010ycz.1_Missense_Mutation_p.T202M|SIGLEC10_uc010eow.2_Missense_Mutation_p.R15C|SIGLEC10_uc002pws.1_Missense_Mutation_p.T176M NM_033130 NP_149121 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 precursor 250 Extracellular (Potential). cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding skin(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) AGTACCTGGCGTGTTGTCACG 0.483 ZSCAN1 284312 broad.mit.edu 37 19 58564824 58564824 + Missense_Mutation SNP C T T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr19:58564824C>T uc002qrc.1 + 6 879 c.632C>T c.(631-633)CCG>CTG p.P211L NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 211 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CCTCTGAAGCCGAGTATCTGG 0.652 TTC7A 57217 broad.mit.edu 37 2 47206005 47206005 + Silent SNP A G G TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr2:47206005A>G uc002rvo.2 + 5 1091 c.723A>G c.(721-723)GAA>GAG p.E241E TTC7A_uc002rvm.2_Silent_p.E207E|TTC7A_uc002rvn.1_Silent_p.E122E|TTC7A_uc010fbb.2_Silent_p.E241E|TTC7A_uc010fbc.2_5'UTR|TTC7A_uc002rvp.2_Silent_p.E122E|TTC7A_uc002rvq.2_5'UTR NM_020458 NP_065191 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 241 binding breast(1)|skin(1) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) ACTTCCTGGAAGCTGCCCTCC 0.537 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48809567 48809567 + Missense_Mutation SNP C T T rs147440328 TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr2:48809567C>T uc010yol.1 + 1 1842 c.1795C>T c.(1795-1797)CGC>TGC p.R599C STON1_uc002rwo.3_Missense_Mutation_p.R599C|STON1_uc010fbm.2_Missense_Mutation_p.R599C|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.R599C|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.R599C NM_006873 NP_006864 B7ZL16 B7ZL16_HUMAN stonin 1 599 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex ovary(3)|pancreas(1)|skin(1) 5 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TAAAATGAACCGCCGAGCATG 0.483 EDAR 10913 broad.mit.edu 37 2 109522815 109522815 + Missense_Mutation SNP G A A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr2:109522815G>A uc002teq.3 - 11 1404 c.973C>T c.(973-975)CGG>TGG p.R325W EDAR_uc010fjn.2_Missense_Mutation_p.R357W|EDAR_uc010yws.1_Missense_Mutation_p.R357W NM_022336 NP_071731 Q9UNE0 EDAR_HUMAN ectodysplasin A receptor precursor 325 Cytoplasmic (Potential). apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity skin(1) 1 TTTTTCCTCCGGCTTTGAATC 0.512 CNTNAP5 129684 broad.mit.edu 37 2 125504853 125504853 + Missense_Mutation SNP C A A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr2:125504853C>A uc002tno.2 + 14 2486 c.2122C>A c.(2122-2124)CCT>ACT p.P708T CNTNAP5_uc010flu.2_Missense_Mutation_p.P709T NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 708 Extracellular (Potential).|Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) TGAAAGGCACCCTTACTGGGG 0.537 POTEE 445582 broad.mit.edu 37 2 131984443 131984443 + Silent SNP A G G TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr2:131984443A>G uc002tsn.2 + 4 910 c.858A>G c.(856-858)CAA>CAG p.Q286Q PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 286 ANK 4. ATP binding 0 AAAAACAGCAAGTCGTGAAAT 0.333 LOC401010 401010 broad.mit.edu 37 2 132201663 132201663 + Silent SNP T C C rs1317139 by1000genomes TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr2:132201663T>C uc002tst.2 - 1 805 c.339A>G c.(337-339)GCA>GCG p.A113A NR_002826 SubName: Full=cDNA FLJ12694 fis, clone NT2RP1000358, highly similar to Homo sapiens mRNA; cDNA DKFZp564C186 (from clone DKFZp564C186); 0 CCATCGTCTCTGCCACACAGG 0.607 LOC401010 401010 broad.mit.edu 37 2 132201718 132201718 + Missense_Mutation SNP T C C rs2001215 by1000genomes TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr2:132201718T>C uc002tst.2 - 1 750 c.284A>G c.(283-285)CAT>CGT p.H95R NR_002826 SubName: Full=cDNA FLJ12694 fis, clone NT2RP1000358, highly similar to Homo sapiens mRNA; cDNA DKFZp564C186 (from clone DKFZp564C186); 0 GATGTCCACATGGAGCTTCCC 0.597 ZNF804A 91752 broad.mit.edu 37 2 185731110 185731110 + Missense_Mutation SNP G C C TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr2:185731110G>C uc002uph.2 + 2 720 c.126G>C c.(124-126)AAG>AAC p.K42N NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 42 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 ATGCTGAGAAGGAAAATACCA 0.363 MPP4 58538 broad.mit.edu 37 2 202552079 202552079 + Missense_Mutation SNP G A A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr2:202552079G>A uc002uyk.3 - 5 503 c.295C>T c.(295-297)CGT>TGT p.R99C MPP4_uc010ftj.2_Missense_Mutation_p.R99C|MPP4_uc010zhq.1_Missense_Mutation_p.R99C|MPP4_uc010zhr.1_Missense_Mutation_p.R99C|MPP4_uc010zhs.1_Missense_Mutation_p.R99C|MPP4_uc002uyj.3_Missense_Mutation_p.R99C|MPP4_uc010zht.1_Intron|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Missense_Mutation_p.R99C|MPP4_uc002uym.1_Missense_Mutation_p.R112C|MPP4_uc002uyn.2_Missense_Mutation_p.R99C NM_033066 NP_149055 Q96JB8 MPP4_HUMAN membrane protein, palmitoylated 4 99 L27 2. cytoplasm protein binding 0 GGGGTTTCACGTAATAACTCC 0.408 ZNF831 128611 broad.mit.edu 37 20 57768855 57768855 + Missense_Mutation SNP A C C TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr20:57768855A>C uc002yan.2 + 1 2781 c.2781A>C c.(2779-2781)AGA>AGC p.R927S NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 927 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) AGGCTCCTAGAGTGCTCTCTG 0.632 CDH4 1002 broad.mit.edu 37 20 60503346 60503346 + Missense_Mutation SNP G A A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr20:60503346G>A uc002ybn.1 + 12 1884 c.1870G>A c.(1870-1872)GAG>AAG p.E624K CDH4_uc002ybp.1_Missense_Mutation_p.E550K NM_001794 NP_001785 P55283 CADH4_HUMAN cadherin 4, type 1 preproprotein 624 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly calcium ion binding lung(3)|ovary(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) GCAGATCTGCGAGAAGCCCAA 0.642 HRH3 11255 broad.mit.edu 37 20 60793588 60793588 + Missense_Mutation SNP C T T rs142903103 TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr20:60793588C>T uc002ycf.2 - 2 673 c.376G>A c.(376-378)GTG>ATG p.V126M HRH3_uc002ycg.2_Missense_Mutation_p.V126M|HRH3_uc002ych.2_Missense_Mutation_p.V126M|HRH3_uc002yci.2_Missense_Mutation_p.V126M NM_007232 NP_009163 Q9Y5N1 HRH3_HUMAN histamine receptor H3 126 Helical; Name=3; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion integral to plasma membrane histamine receptor activity 0 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;7.08e-07) Histamine Phosphate(DB00667) CTGATGAGCACGATGTTGAAG 0.647 KRTAP13-1 140258 broad.mit.edu 37 21 31768677 31768677 + Silent SNP C T T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr21:31768677C>T uc002yoa.2 + 1 286 c.273C>T c.(271-273)CCC>CCT p.P91P NM_181599 NP_853630 Q8IUC0 KR131_HUMAN keratin associated protein 13-1 91 5 X 10 AA approximate repeats. intermediate filament ovary(1) 1 TCTGCAGTCCCTGCCAGACAA 0.612 FAM3B 54097 broad.mit.edu 37 21 42720528 42720528 + Silent SNP C T T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr21:42720528C>T uc002yzb.1 + 7 641 c.495C>T c.(493-495)AAC>AAT p.N165N FAM3B_uc002yza.2_RNA|FAM3B_uc002yzc.1_Silent_p.N117N|FAM3B_uc002yzd.1_Silent_p.N188N NM_058186 NP_478066 P58499 FAM3B_HUMAN family with sequence similarity 3, member B 165 apoptosis|insulin secretion extracellular space cytokine activity 0 Prostate(19;1.57e-07)|all_epithelial(19;0.0404) GACTGAATAACGATGCCAAGA 0.463 SHISA5 51246 broad.mit.edu 37 3 48520627 48520627 + Silent SNP C T T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr3:48520627C>T uc003ctp.1 - 3 407 c.273G>A c.(271-273)TCG>TCA p.S91S SHISA5_uc003cto.1_Silent_p.S60S|SHISA5_uc003ctq.1_Silent_p.S84S|SHISA5_uc003ctr.1_Silent_p.S60S|SHISA5_uc003cts.1_Silent_p.S60S|SHISA5_uc011bbl.1_5'UTR NM_016479 NP_057563 Q8N114 SHSA5_HUMAN scotin precursor 91 Extracellular (Potential). apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|integral to membrane|nuclear membrane signal transducer activity|WW domain binding 0 ACCTCAGCGCCGAGCCCAGCT 0.592 CACNA2D2 9254 broad.mit.edu 37 3 50513588 50513588 + Silent SNP G A A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr3:50513588G>A uc003daq.2 - 2 287 c.249C>T c.(247-249)GGC>GGT p.G83G CACNA2D2_uc003dap.2_Silent_p.G83G NM_006030 NP_006021 Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 83 Extracellular (Potential). energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) TCCGCATCACGCCGTCGACCT 0.632 ZNF717 100131827 broad.mit.edu 37 3 75790798 75790798 + Silent SNP G A A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr3:75790798G>A uc011bgi.1 - 3 470 c.147C>T c.(145-147)GAC>GAT p.D49D ZNF717_uc003dpw.3_RNA NM_001128223 NP_001121695 C9JSV9 C9JSV9_HUMAN zinc finger protein 717 49 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 CCAGCATCACGTCCCTGTACA 0.502 PIK3CA 5290 broad.mit.edu 37 3 178916726 178916726 + Missense_Mutation SNP G A A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr3:178916726G>A uc003fjk.2 + 2 270 c.113G>A c.(112-114)CGT>CAT p.R38H NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 38 PI3K-ABD. R -> H (in cancer; shows an increase in lipid kinase activity; 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.R38H(4)|p.R38S(1)|p.R38G(1)|p.R38C(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 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) GAATGCCTCCGTGAGGCTACA 0.393 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) CLOCK 9575 broad.mit.edu 37 4 56336954 56336954 + Frame_Shift_Del DEL A - - TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr4:56336954delA uc003haz.1 - 9 1294 c.368delT c.(367-369)TTAfs p.L123fs CLOCK_uc003hba.1_Frame_Shift_Del_p.L123fs NM_004898 NP_004889 O15516 CLOCK_HUMAN clock 123 PAS 1. circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(2)|ovary(1) 3 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) CATGATTGCTAAAAAAAAACC 0.289 PF4V1 5197 broad.mit.edu 37 4 74719597 74719597 + Silent SNP C T T rs147144357 TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr4:74719597C>T uc003hhg.1 + 2 265 c.198C>T c.(196-198)GCC>GCT p.A66A NM_002620 NP_002611 P10720 PF4V_HUMAN platelet factor 4 variant 1 66 immune response extracellular region chemokine activity|heparin binding 0 Breast(15;0.00102) all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) TGATCAAGGCCGGACCCCACT 0.607 TACR3 6870 broad.mit.edu 37 4 104579420 104579420 + Missense_Mutation SNP C T T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr4:104579420C>T uc003hxe.1 - 2 832 c.689G>A c.(688-690)CGT>CAT p.R230H NM_001059 NP_001050 P29371 NK3R_HUMAN tachykinin receptor 3 230 Extracellular (Potential). integral to plasma membrane tachykinin receptor activity ovary(3)|lung(2)|breast(1)|skin(1) 7 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) GCAGAGAGTACGGCCTGGCAT 0.393 ZNF827 152485 broad.mit.edu 37 4 146697085 146697085 + Missense_Mutation SNP C T T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr4:146697085C>T uc003ikn.2 - 10 2597 c.2549G>A c.(2548-2550)TGC>TAC p.C850Y ZNF827_uc003ikm.2_Missense_Mutation_p.C850Y|ZNF827_uc010iox.2_Missense_Mutation_p.C500Y|ZNF827_uc003ikl.2_5'UTR NM_178835 NP_849157 Q17R98 ZN827_HUMAN zinc finger protein 827 850 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_hematologic(180;0.151) AGCATAGGGGCACAAGTGGCA 0.498 ODZ3 55714 broad.mit.edu 37 4 183651467 183651467 + Silent SNP C T T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr4:183651467C>T uc003ivd.1 + 14 2737 c.2700C>T c.(2698-2700)GAC>GAT p.D900D ODZ3_uc003ive.1_Silent_p.D306D NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 900 Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CCCGCCAGGACGGAATGTGAG 0.398 FCHO2 115548 broad.mit.edu 37 5 72383422 72383422 + Missense_Mutation SNP G A A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr5:72383422G>A uc003kcl.2 + 25 2368 c.2252G>A c.(2251-2253)GGG>GAG p.G751E FCHO2_uc011csl.1_Missense_Mutation_p.G718E|FCHO2_uc010izb.2_Missense_Mutation_p.G179E|FCHO2_uc011csn.1_Missense_Mutation_p.G179E NM_138782 NP_620137 Q0JRZ9 FCHO2_HUMAN FCH domain only 2 isoform a 751 ovary(1) 1 Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;4.6e-53) GTAGGTTCTGGGTCCCTCCGA 0.398 GABRA6 2559 broad.mit.edu 37 5 161119060 161119060 + Missense_Mutation SNP G A A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr5:161119060G>A uc003lyu.2 + 8 1278 c.940G>A c.(940-942)GTC>ATC p.V314I GABRA6_uc003lyv.2_Missense_Mutation_p.V85I NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 314 Helical; (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity p.V314I(1) ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CTTTGCATTCGTCTTCTCTGC 0.478 TCGA Ovarian(5;0.080) LRRC16A 55604 broad.mit.edu 37 6 25450163 25450163 + Missense_Mutation SNP C T T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr6:25450163C>T uc011djw.1 + 6 785 c.409C>T c.(409-411)CGC>TGC p.R137C LRRC16A_uc010jpx.2_Missense_Mutation_p.R137C|LRRC16A_uc010jpy.2_Missense_Mutation_p.R137C|LRRC16A_uc003nez.1_5'Flank NM_017640 NP_060110 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 137 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1) 4 GCCATCTGAGCGCCTGGCTAG 0.468 ABCF1 23 broad.mit.edu 37 6 30548286 30548286 + Missense_Mutation SNP A G G TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr6:30548286A>G uc003nql.2 + 8 763 c.668A>G c.(667-669)AAG>AGG p.K223R ABCF1_uc003nqk.2_Missense_Mutation_p.K224R|ABCF1_uc003nqm.2_Missense_Mutation_p.K223R|ABCF1_uc010jsb.2_Intron NM_001025091 NP_001020262 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F, member 1 223 Glu-rich. inflammatory response|translational initiation nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding ovary(2) 2 AAGGCCAAGAAGGCAGAGCAG 0.453 CYP21A2 1589 broad.mit.edu 37 6 31973481 31973483 + In_Frame_Del DEL CTG - - TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr6:31973481_31973483delCTG uc010jtp.2 + 1 134_136 c.16_18delCTG c.(16-18)CTGdel p.L10del CYP21A2_uc011dpb.1_In_Frame_Del_p.L10del P08686 CP21A_HUMAN SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2; SubName: Full=Cytochrome P450 21-hydroxylase; SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2, isoform CRA_b; SubName: Full=DJ34F7.3 (Cytochrome P450, subfamily XXIA (Steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2 (CYP21, P450c21B)); SubName: Full=cDNA, FLJ95495, Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2(CYP21A2), mRNA; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding 0 gctcctgggcctgctgctgctgc 0.527 ZDHHC4 55146 broad.mit.edu 37 7 6628405 6628405 + Missense_Mutation SNP G A A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr7:6628405G>A uc003sqi.2 + 9 1257 c.899G>A c.(898-900)CGT>CAT p.R300H ZDHHC4_uc003sql.2_Missense_Mutation_p.R300H|ZDHHC4_uc003sqh.2_Missense_Mutation_p.R300H|ZDHHC4_uc003sqj.2_Missense_Mutation_p.R300H|ZDHHC4_uc003sqk.2_Missense_Mutation_p.R300H|ZDHHC4_uc003sqm.2_Missense_Mutation_p.R300H|uc011jwy.1_5'Flank|C7orf26_uc003sqo.1_5'Flank|C7orf26_uc003sqp.1_5'Flank|C7orf26_uc003sqq.1_5'Flank NM_001134388 NP_001127860 Q9NPG8 ZDHC4_HUMAN zinc finger, DHHC-type containing 4 300 integral to membrane acyltransferase activity|zinc ion binding breast(1)|pancreas(1) 2 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.1) TGGTGCCAGCGTTGTCCCCTT 0.577 PCLO 27445 broad.mit.edu 37 7 82583736 82583736 + Missense_Mutation SNP G T T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr7:82583736G>T uc003uhx.2 - 5 6822 c.6533C>A c.(6532-6534)CCC>CAC p.P2178H PCLO_uc003uhv.2_Missense_Mutation_p.P2178H|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2109 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TGTGTCAGAGGGTGGGACAGA 0.428 MUC17 140453 broad.mit.edu 37 7 100684314 100684314 + Missense_Mutation SNP C G G TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr7:100684314C>G uc003uxp.1 + 3 9670 c.9617C>G c.(9616-9618)ACT>AGT p.T3206S MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3206 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|52. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TCATCTACAACTGCTGAAGGT 0.502 EZH2 2146 broad.mit.edu 37 7 148529726 148529726 + Missense_Mutation SNP C G G TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr7:148529726C>G uc003wfd.1 - 4 529 c.363G>C c.(361-363)ATG>ATC p.M121I EZH2_uc011kug.1_Missense_Mutation_p.M112I|EZH2_uc003wfb.1_Missense_Mutation_p.M121I|EZH2_uc003wfc.1_Intron|EZH2_uc011kuh.1_Missense_Mutation_p.M112I|EZH2_uc011kui.1_Missense_Mutation_p.M121I|EZH2_uc011kuj.1_RNA NM_004456 NP_004447 Q15910 EZH2_HUMAN enhancer of zeste 2 isoform a 121 Interaction with DNMT1, DNMT3A and DNMT3B. negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1) 183 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) ATTTACATACCATAAAATTCT 0.313 Mis DLBCL TNFRSF10C 8794 broad.mit.edu 37 8 22972207 22972207 + Silent SNP G A A rs74480765 byFrequency TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr8:22972207G>A uc003xcy.2 + 3 405 c.204G>A c.(202-204)CCG>CCA p.P68P TNFRSF10C_uc011kzr.1_RNA NM_003841 NP_003832 O14798 TR10C_HUMAN tumor necrosis factor receptor superfamily, 68 apoptosis anchored to membrane|integral to plasma membrane TRAIL binding|transmembrane receptor activity 0 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) CCTGTAACCCGTGCACAGAGG 0.468 SLCO5A1 81796 broad.mit.edu 37 8 70617355 70617355 + Silent SNP A G G TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr8:70617355A>G uc003xyl.2 - 6 2240 c.1533T>C c.(1531-1533)AGT>AGC p.S511S SLCO5A1_uc010lzb.2_Silent_p.S456S|SLCO5A1_uc011lfa.1_Intron|SLCO5A1_uc003xyk.2_Silent_p.S511S|SLCO5A1_uc010lzc.2_Silent_p.S456S NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 511 Helical; Name=9; (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) AAGACACACCACTGCAGATCA 0.408 RIMS2 9699 broad.mit.edu 37 8 104897848 104897848 + Missense_Mutation SNP C T T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr8:104897848C>T uc003yls.2 + 2 596 c.355C>T c.(355-357)CGT>TGT p.R119C RIMS2_uc003ylp.2_Missense_Mutation_p.R341C|RIMS2_uc003ylw.2_Missense_Mutation_p.R149C|RIMS2_uc003ylq.2_Missense_Mutation_p.R149C|RIMS2_uc003ylr.2_Missense_Mutation_p.R149C NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 372 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GAATTTGGCCCGTTATCCAGT 0.473 HNSCC(12;0.0054) CNTLN 54875 broad.mit.edu 37 9 17330744 17330744 + Missense_Mutation SNP A G G TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr9:17330744A>G uc003zmz.2 + 9 1482 c.1456A>G c.(1456-1458)ATA>GTA p.I486V CNTLN_uc003zmy.2_Missense_Mutation_p.I486V|CNTLN_uc010mio.2_Missense_Mutation_p.I165V NM_017738 NP_060208 Q9NXG0 CNTLN_HUMAN centlein isoform 1 486 centriole|membrane two-component sensor activity pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.14e-10) GTCAGAAAACATATCTGCCAA 0.368 FBXO10 26267 broad.mit.edu 37 9 37515999 37515999 + Silent SNP G T T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr9:37515999G>T uc004aab.2 - 10 2647 c.2598C>A c.(2596-2598)ATC>ATA p.I866I FBXO10_uc004aac.2_Silent_p.I882I|FBXO10_uc004aad.2_Silent_p.I416I NM_012166 NP_036298 Q9UK96 FBX10_HUMAN F-box protein 10 866 ubiquitin ligase complex ubiquitin-protein ligase activity lung(5) 5 GBM - Glioblastoma multiforme(29;0.0107) CCTGGAAGATGATGTTTTCCT 0.522 TMC1 117531 broad.mit.edu 37 9 75435855 75435855 + Missense_Mutation SNP G A A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr9:75435855G>A uc004aiz.1 + 20 2401 c.1861G>A c.(1861-1863)GTT>ATT p.V621I TMC1_uc010moz.1_Missense_Mutation_p.V579I|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.V475I|TMC1_uc010mpa.1_Missense_Mutation_p.V475I NM_138691 NP_619636 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 621 Cytoplasmic (Potential). sensory perception of sound integral to membrane ovary(1) 1 GTGCTGCAATGTTCCTGAGGC 0.502 ASTN2 23245 broad.mit.edu 37 9 119770488 119770488 + Silent SNP A G G TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr9:119770488A>G uc004bjs.1 - 7 1575 c.1474T>C c.(1474-1476)TTA>CTA p.L492L ASTN2_uc004bjr.1_Silent_p.L492L|ASTN2_uc004bjt.1_Silent_p.L441L NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 492 Extracellular (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 GCCGGGTTTAACCAGTCGGAG 0.512 GPSM1 26086 broad.mit.edu 37 9 139250804 139250804 + Silent SNP G A A rs79557901 byFrequency TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chr9:139250804G>A uc004chd.2 + 13 1843 c.1623G>A c.(1621-1623)TCG>TCA p.S541S GPSM1_uc011mdu.1_Silent_p.S32S|GPSM1_uc004che.2_Silent_p.S32S NM_001145638 NP_001139110 Q86YR5 GPSM1_HUMAN G-protein signaling modulator 1 (AGS3-like, C. 541 cell differentiation|nervous system development|signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane binding|GTPase activator activity 0 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06) CCCAGCCCTCGATGACGGCCT 0.716 MSL3 10943 broad.mit.edu 37 X 11790368 11790371 + Frame_Shift_Del DEL TTGT - - TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chrX:11790368_11790371delTTGT uc004cuw.2 + 11 1480_1483 c.1375_1378delTTGT c.(1375-1380)TTGTTTfs p.L459fs MSL3_uc004cux.2_Frame_Shift_Del_p.L400fs|MSL3_uc011mig.1_Frame_Shift_Del_p.L310fs|MSL3_uc011mih.1_Frame_Shift_Del_p.L447fs|MSL3_uc004cuy.2_Frame_Shift_Del_p.L293fs NM_078629 NP_523353 Q8N5Y2 MS3L1_HUMAN male-specific lethal 3-like 1 isoform a 459_460 histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter MSL complex DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TTTGCTGCGATTGTTTGGTAAGAA 0.451 KCND1 3750 broad.mit.edu 37 X 48819889 48819889 + Missense_Mutation SNP C T T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chrX:48819889C>T uc004dlx.1 - 6 3470 c.1897G>A c.(1897-1899)GGT>AGT p.G633S KCND1_uc004dlw.1_Missense_Mutation_p.G256S NM_004979 NP_004970 Q9NSA2 KCND1_HUMAN potassium voltage-gated channel, Shal-related 633 Cytoplasmic (Potential). voltage-gated potassium channel complex metal ion binding|voltage-gated potassium channel activity ovary(2)|lung(1) 3 CAAGGGGTACCCAGGCTGGAG 0.612 VSIG4 11326 broad.mit.edu 37 X 65242302 65242302 + Missense_Mutation SNP T C C TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chrX:65242302T>C uc004dwh.2 - 8 1130 c.1003A>G c.(1003-1005)AGG>GGG p.R335G VSIG4_uc004dwi.2_Missense_Mutation_p.R241G|VSIG4_uc010nkq.1_3'UTR|VSIG4_uc004dwj.2_3'UTR|VSIG4_uc011moy.1_3'UTR|VSIG4_uc004dwk.2_Intron|VSIG4_uc004dwl.2_Intron NM_007268 NP_009199 Q9Y279 VSIG4_HUMAN V-set and immunoglobulin domain containing 4 335 Cytoplasmic (Potential). complement activation, alternative pathway integral to membrane protein binding 0 ATGGCCACCCTCATGGTTTCT 0.567 USP26 83844 broad.mit.edu 37 X 132161219 132161219 + Missense_Mutation SNP G A A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chrX:132161219G>A uc010nrm.1 - 6 1500 c.1030C>T c.(1030-1032)CGG>TGG p.R344W USP26_uc011mvf.1_Missense_Mutation_p.R344W NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN ubiquitin-specific protease 26 344 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(3)|central_nervous_system(3)|kidney(1)|liver(1) 8 Acute lymphoblastic leukemia(192;0.000127) AAAAGTAGCCGTGCCAAGCAC 0.378 AFF2 2334 broad.mit.edu 37 X 147924922 147924922 + Silent SNP C A A TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chrX:147924922C>A uc004fcp.2 + 7 1706 c.1227C>A c.(1225-1227)ACC>ACA p.T409T AFF2_uc004fco.2_Silent_p.T376T|AFF2_uc004fcq.2_Silent_p.T405T|AFF2_uc004fcr.2_Silent_p.T376T|AFF2_uc011mxb.1_Silent_p.T380T|AFF2_uc004fcs.2_Silent_p.T376T|AFF2_uc011mxc.1_Silent_p.T50T NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 409 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) ATGACCCAACCACCAGAGCTT 0.378 FLNA 2316 broad.mit.edu 37 X 153588445 153588445 + Missense_Mutation SNP C T T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 45d03116-6cff-4074-9c26-2e5f1a8854d3 2159e2bc-ad84-4c6f-a4b9-d8f27800b900 g.chrX:153588445C>T uc004fkk.2 - 22 3967 c.3718G>A c.(3718-3720)GTG>ATG p.V1240M FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.V1240M NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 1240 Filamin 10. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AAGTTGGGCACGGGCTGGCCG 0.627