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 MTHFR 4524 broad.mit.edu 37 1 11861244 11861244 + Missense_Mutation SNP A G G TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr1:11861244A>G uc001atc.1 - 3 633 c.449T>C c.(448-450)CTG>CCG p.L150P MTHFR_uc001atb.1_Missense_Mutation_p.L173P NM_005957 NP_005948 P42898 MTHR_HUMAN 5,10-methylenetetrahydrofolate reductase 150 blood circulation|folic acid metabolic process cytosol methylenetetrahydrofolate reductase (NADPH) activity|protein binding 0 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116) GATGTTCTTCAGGCCCAGCTG 0.602 IFI6 2537 broad.mit.edu 37 1 27992966 27992966 + Missense_Mutation SNP C T T rs74937564 TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr1:27992966C>T uc001boo.1 - 5 442 c.319G>A c.(319-321)GTC>ATC p.V107I IFI6_uc001bon.1_Missense_Mutation_p.V115I|IFI6_uc001bop.1_Missense_Mutation_p.V111I NM_002038 NP_002029 P09912 IFI6_HUMAN interferon, alpha-inducible protein 6 isoform a 107 anti-apoptosis|negative regulation of caspase activity|negative regulation of mitochondrial depolarization|release of cytochrome c from mitochondria|type I interferon-mediated signaling pathway integral to membrane|mitochondrion protein binding ovary(1) 1 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) TTACCTATGACGACGCTGCTG 0.537 LRRC40 55631 broad.mit.edu 37 1 70641517 70641517 + Missense_Mutation SNP T G G TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr1:70641517T>G uc001der.1 - 7 1005 c.953A>C c.(952-954)GAC>GCC p.D318A NM_017768 NP_060238 Q9H9A6 LRC40_HUMAN leucine rich repeat containing 40 318 LRR 11. ovary(1) 1 GTTGCTTAGGTCAAGCCTTTC 0.289 NEXN 91624 broad.mit.edu 37 1 78392171 78392171 + Missense_Mutation SNP A T T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr1:78392171A>T uc001dic.3 + 7 859 c.562A>T c.(562-564)AAT>TAT p.N188Y NEXN_uc001dia.3_Missense_Mutation_p.N174Y|NEXN_uc009wcb.1_Missense_Mutation_p.N110Y|NEXN_uc001dib.3_Missense_Mutation_p.N124Y|NEXN_uc001did.1_Missense_Mutation_p.N98Y|NEXN_uc001dif.1_Missense_Mutation_p.N80Y NM_144573 NP_653174 Q0ZGT2 NEXN_HUMAN nexilin (F actin binding protein) 188 Glu-rich. regulation of cell migration|regulation of cytoskeleton organization cytoskeleton|Z disc actin filament binding|structural constituent of muscle ovary(2) 2 Colorectal(170;0.114) AATGAAAAAGAATTTTGAGGA 0.313 WDR63 126820 broad.mit.edu 37 1 85560129 85560129 + Missense_Mutation SNP C T T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr1:85560129C>T uc001dkt.2 + 10 1255 c.1064C>T c.(1063-1065)TCG>TTG p.S355L WDR63_uc009wcl.2_Missense_Mutation_p.S316L NM_145172 NP_660155 Q8IWG1 WDR63_HUMAN WD repeat domain 63 355 upper_aerodigestive_tract(2)|ovary(2)|skin(1) 5 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) ATAGCTGTGTCGGTAGCCGTG 0.418 HRNR 388697 broad.mit.edu 37 1 152192836 152192836 + Silent SNP A G G TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr1:152192836A>G uc001ezt.1 - 3 1345 c.1269T>C c.(1267-1269)TCT>TCC p.S423S NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 423 4. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGTGGCCTGGAGACTGGCCAG 0.617 SPTA1 6708 broad.mit.edu 37 1 158654966 158654966 + Missense_Mutation SNP C T T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr1:158654966C>T uc001fst.1 - 2 395 c.196G>A c.(196-198)GGG>AGG p.G66R NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 66 Spectrin 2. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) ATCCACTtccccagatcatct 0.299 ANKRD30A 91074 broad.mit.edu 37 10 37506710 37506710 + Silent SNP G A A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr10:37506710G>A uc001iza.1 + 33 3102 c.3003G>A c.(3001-3003)GAG>GAA p.E1001E NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1057 Potential. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 GAATCGAAGAGCAGCATAGGA 0.328 ADAMTS14 140766 broad.mit.edu 37 10 72495039 72495039 + Silent SNP C T T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr10:72495039C>T uc001jrh.2 + 9 1467 c.1467C>T c.(1465-1467)GGC>GGT p.G489G ADAMTS14_uc001jrg.2_Silent_p.G492G|ADAMTS14_uc001jri.1_Silent_p.G12G NM_080722 NP_542453 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 489 Disintegrin. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|upper_aerodigestive_tract(1) 6 TTGGCAGTGGCTACCAGACCT 0.592 PTEN 5728 broad.mit.edu 37 10 89692993 89692993 + Missense_Mutation SNP G T T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr10:89692993G>T uc001kfb.2 + 6 1508 c.477G>T c.(475-477)AGG>AGT p.R159S NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 159 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.R159S(4)|p.R55fs*1(4)|p.R159K(4)|p.?(2)|p.Y27fs*1(2)|p.R159fs*8(2)|p.Y27_N212>Y(2)|p.F56fs*2(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) GGGAAGTAAGGACCAGAGACA 0.358 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) PTEN 5728 broad.mit.edu 37 10 89720852 89720852 + Nonsense_Mutation SNP C T T rs121909231 TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr10:89720852C>T uc001kfb.2 + 9 2034 c.1003C>T c.(1003-1005)CGA>TGA p.R335* NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 335 C2 tensin-type. KANKDKANR->AAGADAANA: Reduces growth suppression activity and promotes anchorage-independent growth. Reduces binding to phospholipid membranes in vitro; phosphatase activity towards PtdIns(3,4,5)P3 is not affected. 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.R335*(21)|p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R335fs*8(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.R335fs*4(1)|p.R335fs*7(1)|p.W274_F341del(1)|p.R335R(1)|p.D326_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) CAAAGCCAACCGATACTTTTC 0.333 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) COL17A1 1308 broad.mit.edu 37 10 105798253 105798253 + Missense_Mutation SNP G A A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr10:105798253G>A uc001kxr.2 - 45 3150 c.2981C>T c.(2980-2982)CCG>CTG p.P994L NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN alpha 1 type XVII collagen 994 Extracellular (Potential).|Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding ovary(4)|pancreas(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GGGCCCTGGCGGGCCTGACAC 0.597 NANOS1 340719 broad.mit.edu 37 10 120790044 120790044 + Missense_Mutation SNP T A A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr10:120790044T>A uc009xzf.1 + 1 817 c.731T>A c.(730-732)CTG>CAG p.L244Q NM_199461 NP_955631 Q8WY41 NANO1_HUMAN nanos homolog 1 244 Nanos-type. epithelial cell migration perinuclear region of cytoplasm protein binding|RNA binding|translation repressor activity|zinc ion binding 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0193) TGTCCCGTGCTGCGCCGCTAC 0.577 RASGRP2 10235 broad.mit.edu 37 11 64497600 64497600 + Frame_Shift_Del DEL C - - TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr11:64497600delC uc009ypu.2 - 13 1706 c.1479delG c.(1477-1479)GGGfs p.G493fs RASGRP2_uc001oat.2_Frame_Shift_Del_p.G395fs|RASGRP2_uc001oau.2_Frame_Shift_Del_p.G348fs|RASGRP2_uc009ypv.2_Frame_Shift_Del_p.G493fs|RASGRP2_uc009ypw.2_Frame_Shift_Del_p.G493fs NM_001098671 NP_001092141 Q7LDG7 GRP2_HUMAN RAS guanyl releasing protein 2 493 platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity 0 AGCCCATGCGCCCCCCCAACA 0.642 OR10S1 219873 broad.mit.edu 37 11 123847486 123847486 + Missense_Mutation SNP G A A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr11:123847486G>A uc001pzm.1 - 1 913 c.913C>T c.(913-915)CGG>TGG p.R305W NM_001004474 NP_001004474 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, 305 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TCCTTGTTCCGCAAAGTGTAA 0.527 AGAP2 116986 broad.mit.edu 37 12 58125706 58125706 + Silent SNP C T T rs145122115 TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr12:58125706C>T uc001spq.2 - 8 1839 c.1839G>A c.(1837-1839)CCG>CCA p.P613P AGAP2_uc001spp.2_Silent_p.P613P|AGAP2_uc001spr.2_Silent_p.P277P NM_001122772 NP_001116244 Q99490 AGAP2_HUMAN centaurin, gamma 1 isoform PIKE-L 613 axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding central_nervous_system(3)|breast(2) 5 TCGGTGAGGACGGGAGGGAAG 0.622 GPR133 283383 broad.mit.edu 37 12 131487809 131487809 + Missense_Mutation SNP C T T rs142314859 TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr12:131487809C>T uc001uit.3 + 10 1665 c.1106C>T c.(1105-1107)ACG>ATG p.T369M GPR133_uc010tbm.1_Missense_Mutation_p.T401M NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 369 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) CACGGCAGCACGCCCCAGGTC 0.622 N6AMT2 221143 broad.mit.edu 37 13 21331636 21331636 + Silent SNP G A A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr13:21331636G>A uc001uno.1 - 2 183 c.102C>T c.(100-102)GGC>GGT p.G34G N6AMT2_uc009zzr.1_Silent_p.G34G|N6AMT2_uc001unp.2_RNA NM_174928 NP_777588 Q8WVE0 N6MT2_HUMAN N-6 adenine-specific DNA methyltransferase 2 34 methyltransferase activity|nucleic acid binding 0 all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367) all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431) TATCATCCTCGCCTGGCTCAA 0.418 CHD8 57680 broad.mit.edu 37 14 21876530 21876530 + Missense_Mutation SNP C G G TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr14:21876530C>G uc001was.1 - 13 1928 c.1834G>C c.(1834-1836)GGC>CGC p.G612R CHD8_uc001war.1_Missense_Mutation_p.G508R|CHD8_uc001wav.1_Missense_Mutation_p.G54R NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 891 Helicase ATP-binding. ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) GCCAGACTGCCATGGTACACA 0.438 DHRS2 10202 broad.mit.edu 37 14 24109023 24109023 + Silent SNP C T T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr14:24109023C>T uc001wkt.3 + 4 786 c.339C>T c.(337-339)GGC>GGT p.G113G DHRS2_uc010aku.1_Silent_p.G113G|DHRS2_uc001wku.3_Silent_p.G113G|DHRS2_uc010akv.2_RNA|DHRS2_uc001wkv.3_Silent_p.G113G NM_182908 NP_878912 Q13268 DHRS2_HUMAN dehydrogenase/reductase member 2 isoform 1 91 C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin mitochondrion|nuclear envelope binding|carbonyl reductase (NADPH) activity large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(265;0.00659) ACTGTGGGGGCGTCGACTTCC 0.637 LRRC16B 90668 broad.mit.edu 37 14 24524519 24524519 + Missense_Mutation SNP G A A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr14:24524519G>A uc001wlj.2 + 8 762 c.605G>A c.(604-606)CGA>CAA p.R202Q NM_138360 NP_612369 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 202 ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(265;0.019) TTGGAGAGCCGGTAAGCAGAT 0.552 C15orf2 23742 broad.mit.edu 37 15 24921169 24921169 + Missense_Mutation SNP G A A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr15:24921169G>A uc001ywo.2 + 1 629 c.155G>A c.(154-156)CGC>CAC p.R52H NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 52 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) GGCCTGTTCCGCCGGAACGCC 0.756 SOLH 6650 broad.mit.edu 37 16 603459 603459 + Silent SNP C T T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr16:603459C>T uc002chi.2 + 14 3567 c.3204C>T c.(3202-3204)ACC>ACT p.T1068T SOLH_uc002chj.2_Silent_p.T128T NM_005632 NP_005623 O75808 CAN15_HUMAN small optic lobes 1068 proteolysis intracellular calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|breast(1) 2 Hepatocellular(780;0.00335) CCAAGGGGACCCACAGCCCCC 0.687 WDR90 197335 broad.mit.edu 37 16 715745 715745 + Missense_Mutation SNP C T T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr16:715745C>T uc002cii.1 + 35 4432 c.4378C>T c.(4378-4380)CGG>TGG p.R1460W WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_RNA|WDR90_uc002cin.1_Missense_Mutation_p.R75W|WDR90_uc010uul.1_Missense_Mutation_p.R59W|WDR90_uc002cio.1_Missense_Mutation_p.R59W|WDR90_uc010bqx.1_Missense_Mutation_p.R59W|RHOT2_uc010uum.1_5'Flank|RHOT2_uc002cip.2_5'Flank|RHOT2_uc002ciq.2_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 1460 WD 17. ovary(1) 1 Hepatocellular(780;0.0218) TGGGAGTGTGCGGGTGTGGGC 0.672 OTOA 146183 broad.mit.edu 37 16 21698817 21698817 + Silent SNP C T T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr16:21698817C>T uc002djh.2 + 7 484 c.483C>T c.(481-483)CTC>CTT p.L161L uc002diq.3_Intron|OTOA_uc010vbj.1_Silent_p.L82L NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN otoancorin isoform 1 161 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(48;0.0414) GCCTGTTTCTCATCACACTGG 0.542 SCNN1G 6340 broad.mit.edu 37 16 23226433 23226433 + Missense_Mutation SNP C A A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr16:23226433C>A uc002dlm.1 + 13 1732 c.1593C>A c.(1591-1593)TTC>TTA p.F531L NM_001039 NP_001030 P51170 SCNNG_HUMAN sodium channel, nonvoltage-gated 1, gamma 531 Helical; (By similarity). excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) TGTCCAACTTCGGTGGCCAGC 0.547 ITGAD 3681 broad.mit.edu 37 16 31409190 31409190 + Silent SNP G A A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr16:31409190G>A uc002ebv.1 + 5 436 c.387G>A c.(385-387)TCG>TCA p.S129S ITGAD_uc010vfl.1_Silent_p.S129S|ITGAD_uc010cap.1_Silent_p.S129S|ITGAD_uc002ebw.1_5'UTR NM_005353 NP_005344 Q13349 ITAD_HUMAN integrin, alpha D precursor 129 FG-GAP 2.|Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity skin(1) 1 TGCTGGGCTCGCGCTGGGAGA 0.642 NLRC5 84166 broad.mit.edu 37 16 57054711 57054711 + Silent SNP C T T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr16:57054711C>T uc002ekk.1 + 3 312 c.87C>T c.(85-87)AAC>AAT p.N29N NLRC5_uc010ccq.1_RNA NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN nucleotide-binding oligomerization domains 27 29 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding ovary(4)|skin(2)|breast(1) 7 all_neural(199;0.225) AATGGCTGAACGCCAAGATGA 0.562 NLRC5 84166 broad.mit.edu 37 16 57088674 57088674 + Missense_Mutation SNP C T T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr16:57088674C>T uc002ekk.1 + 25 3743 c.3518C>T c.(3517-3519)ACG>ATG p.T1173M NLRC5_uc002ekn.2_Missense_Mutation_p.T892M|NLRC5_uc002ekl.2_Missense_Mutation_p.T978M|NLRC5_uc002ekm.2_Missense_Mutation_p.T948M|NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekp.1_Missense_Mutation_p.T89M|NLRC5_uc002ekq.1_Translation_Start_Site|NLRC5_uc002ekr.1_Missense_Mutation_p.T89M NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN nucleotide-binding oligomerization domains 27 1173 LRR 12. defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding ovary(4)|skin(2)|breast(1) 7 all_neural(199;0.225) CTGAGCCAGACGGGACTGTCC 0.592 KCTD19 146212 broad.mit.edu 37 16 67325657 67325657 + Missense_Mutation SNP C T T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr16:67325657C>T uc002esu.2 - 13 2353 c.2302G>A c.(2302-2304)GTG>ATG p.V768M KCTD19_uc002est.2_Missense_Mutation_p.V540M|KCTD19_uc010vjj.1_Missense_Mutation_p.V511M NM_001100915 NP_001094385 Q17RG1 KCD19_HUMAN potassium channel tetramerisation domain 768 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) CTGCCCACCACGGGGGGGTGA 0.572 PKD1L2 114780 broad.mit.edu 37 16 81187697 81187697 + Missense_Mutation SNP G C C TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr16:81187697G>C uc002fgh.1 - 26 4275 c.4275C>G c.(4273-4275)CAC>CAG p.H1425Q PKD1L2_uc002fgg.1_RNA NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 1425 Cytoplasmic (Potential).|PLAT. neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 GATCAGCCAGGTGGTGGGGCT 0.607 TP53 7157 broad.mit.edu 37 17 7578280 7578280 + Missense_Mutation SNP G A A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr17:7578280G>A uc002gim.2 - 6 763 c.569C>T c.(568-570)CCT>CTT p.P190L TP53_uc002gig.1_Missense_Mutation_p.P190L|TP53_uc002gih.2_Missense_Mutation_p.P190L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P58L|TP53_uc010cng.1_Missense_Mutation_p.P58L|TP53_uc002gii.1_Missense_Mutation_p.P58L|TP53_uc010cnh.1_Missense_Mutation_p.P190L|TP53_uc010cni.1_Missense_Mutation_p.P190L|TP53_uc002gij.2_Missense_Mutation_p.P190L|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.P97L|TP53_uc002gio.2_Missense_Mutation_p.P58L|TP53_uc010vug.1_Missense_Mutation_p.P151L NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 190 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). P -> R (in sporadic cancers; somatic mutation).|P -> H (in a sporadic cancer; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.P190L(21)|p.P190fs*57(8)|p.0?(7)|p.P190del(6)|p.P190S(6)|p.P190T(4)|p.A189_V197delAPPQHLIRV(4)|p.G187fs*16(2)|p.P190A(2)|p.P190R(2)|p.K164_P219del(1)|p.P58fs*>33(1)|p.A189_Q192>E(1)|p.P191fs*18(1)|p.P190fs*19(1)|p.D186_P191delDGLAPP(1)|p.?(1)|p.A189fs*53(1)|p.P190H(1)|p.P190P(1)|p.L188_P191del(1)|p.P97fs*57(1)|p.A189_P190>X(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) ATGCTGAGGAGGGGCCAGACC 0.552 111 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 7578466 7578466 + Missense_Mutation SNP G T T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr17:7578466G>T uc002gim.2 - 5 658 c.464C>A c.(463-465)ACC>AAC p.T155N TP53_uc002gig.1_Missense_Mutation_p.T155N|TP53_uc002gih.2_Missense_Mutation_p.T155N|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.T23N|TP53_uc010cng.1_Missense_Mutation_p.T23N|TP53_uc002gii.1_Missense_Mutation_p.T23N|TP53_uc010cnh.1_Missense_Mutation_p.T155N|TP53_uc010cni.1_Missense_Mutation_p.T155N|TP53_uc002gij.2_Missense_Mutation_p.T155N|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.T62N|TP53_uc002gio.2_Missense_Mutation_p.T23N|TP53_uc010vug.1_Missense_Mutation_p.T116N NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 155 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.T155N(19)|p.T155P(14)|p.T155I(10)|p.0?(7)|p.T155A(7)|p.T155T(5)|p.P152fs*14(3)|p.G154fs*14(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.T155S(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.T155fs*26(1)|p.T155fs*25(1)|p.R156_A161del(1)|p.D148_T155delDSTPPPGT(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.T155fs*15(1)|p.R156fs*25(1)|p.T155_R156delTR(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) GCGGACGCGGGTGCCGGGCGG 0.612 111 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) ODF4 146852 broad.mit.edu 37 17 8243550 8243550 + Missense_Mutation SNP C T T rs147153349 TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr17:8243550C>T uc002gle.1 + 1 363 c.181C>T c.(181-183)CGC>TGC p.R61C NM_153007 NP_694552 Q2M2E3 ODFP4_HUMAN outer dense fiber of sperm tails 4 61 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(1) 1 CTTGGGCCAGCGCCAGAACTC 0.592 MYH13 8735 broad.mit.edu 37 17 10213133 10213133 + Silent SNP G A A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr17:10213133G>A uc002gmk.1 - 34 4761 c.4671C>T c.(4669-4671)CAC>CAT p.H1557H NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1557 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 TGCTCTCCTCGTGTTCCAAGG 0.498 KRT27 342574 broad.mit.edu 37 17 38936090 38936090 + Silent SNP C T T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr17:38936090C>T uc002hvg.2 - 4 749 c.708G>A c.(706-708)GCG>GCA p.A236A NM_181537 NP_853515 Q7Z3Y8 K1C27_HUMAN keratin 27 236 Rod.|Linker 12. cytoplasm|intermediate filament structural molecule activity 0 Breast(137;0.000812) TGCCTCCAGCCGCGCACTGAA 0.433 SEPT4 5414 broad.mit.edu 37 17 56599396 56599396 + Silent SNP C A A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr17:56599396C>A uc002iwm.1 - 6 857 c.729G>T c.(727-729)CTG>CTT p.L243L SEPT4_uc002iwk.1_Silent_p.L96L|SEPT4_uc010wnw.1_Silent_p.L96L|SEPT4_uc002iwl.1_Silent_p.L96L|SEPT4_uc002iwn.1_Silent_p.L144L|SEPT4_uc002iwo.1_Silent_p.L224L|SEPT4_uc002iwp.1_Silent_p.L224L|SEPT4_uc010wnx.1_Silent_p.L258L|SEPT4_uc010wny.1_Silent_p.L235L|SEPT4_uc010dcy.1_Silent_p.L125L NM_004574 NP_004565 O43236 SEPT4_HUMAN septin 4 isoform 1 243 apoptosis|cell cycle|cytokinesis|regulation of apoptosis cytoskeleton|mitochondrion|nucleus GTP binding|GTPase activity|protein binding|structural molecule activity 0 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCTTTCGGTTCAGGCCACTCT 0.542 C17orf71 55181 broad.mit.edu 37 17 57290240 57290240 + Missense_Mutation SNP A G G TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr17:57290240A>G uc002ixi.2 + 3 2098 c.2056A>G c.(2056-2058)ACC>GCC p.T686A NM_018149 NP_060619 Q8ND04 SMG8_HUMAN SMG8 protein 686 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding 0 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) AGAACCTCAAACCCAAGGAGA 0.453 CASKIN2 57513 broad.mit.edu 37 17 73498060 73498062 + In_Frame_Del DEL GGA - - rs150879399 TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr17:73498060_73498062delGGA uc002joc.2 - 18 3643_3645 c.3093_3095delTCC c.(3091-3096)CCTCCA>CCA p.1031_1032PP>P CASKIN2_uc010wsc.1_In_Frame_Del_p.949_950PP>P NM_020753 NP_065804 Q8WXE0 CSKI2_HUMAN cask-interacting protein 2 isoform a 1031_1032 Pro-rich. cytoplasm pancreas(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GCTAGAAGCTGGAGGAGACTCGC 0.690 PTPRS 5802 broad.mit.edu 37 19 5221107 5221107 + Missense_Mutation SNP T C C TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr19:5221107T>C uc002mbv.2 - 20 3593 c.3359A>G c.(3358-3360)AAC>AGC p.N1120S PTPRS_uc002mbu.1_Missense_Mutation_p.N689S|PTPRS_uc010xin.1_Missense_Mutation_p.N689S|PTPRS_uc002mbw.2_Missense_Mutation_p.N1098S|PTPRS_uc002mbx.2_Missense_Mutation_p.N693S|PTPRS_uc002mby.2_Missense_Mutation_p.N689S NM_002850 NP_002841 Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, 1120 Extracellular (Potential). cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GTTGAGCAGGTTGAAGGCAGT 0.622 EMR1 2015 broad.mit.edu 37 19 6928180 6928180 + Silent SNP G A A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr19:6928180G>A uc002mfw.2 + 17 2285 c.2247G>A c.(2245-2247)GGG>GGA p.G749G EMR1_uc010dvc.2_Silent_p.G684G|EMR1_uc010dvb.2_Silent_p.G697G|EMR1_uc010xji.1_Silent_p.G608G|EMR1_uc010xjj.1_Silent_p.G572G NM_001974 NP_001965 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone 749 Helical; Name=5; (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 all_hematologic(4;0.166) CAGAGACAGGGTTCATCTGGA 0.498 ZNF333 84449 broad.mit.edu 37 19 14829286 14829286 + Missense_Mutation SNP A G G TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr19:14829286A>G uc002mzn.2 + 12 1281 c.1147A>G c.(1147-1149)AGG>GGG p.R383G ZNF333_uc002mzk.3_Missense_Mutation_p.R274G NM_032433 NP_115809 Q96JL9 ZN333_HUMAN zinc finger protein 333 383 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 TGACCTTATCAGGCATGAGAA 0.453 OR7A17 26333 broad.mit.edu 37 19 14991924 14991924 + Missense_Mutation SNP G A A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr19:14991924G>A uc010xob.1 - 1 244 c.244C>T c.(244-246)CTC>TTC p.L82F NM_030901 NP_112163 O14581 OR7AH_HUMAN olfactory receptor, family 7, subfamily A, 82 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Ovarian(108;0.203) ATGTTAATGAGCATCTTTGGG 0.473 PSG5 5673 broad.mit.edu 37 19 43679606 43679606 + Missense_Mutation SNP G A A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr19:43679606G>A uc002ovu.2 - 4 856 c.725C>T c.(724-726)CCC>CTC p.P242L PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Missense_Mutation_p.P117L|PSG5_uc002ovx.2_Missense_Mutation_p.P242L|PSG5_uc002ovv.2_Missense_Mutation_p.P335L|PSG5_uc002ovw.2_Intron NM_002781 NP_002772 Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 242 Ig-like C2-type 2. female pregnancy extracellular region skin(3) 3 Prostate(69;0.00899) GTAAATGCTGGGGAGGTCTGG 0.498 ZNF845 91664 broad.mit.edu 37 19 53854397 53854397 + Missense_Mutation SNP G C C rs10415799 by1000genomes TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr19:53854397G>C uc010ydv.1 + 4 586 c.469G>C c.(469-471)GAA>CAA p.E157Q ZNF845_uc010ydw.1_Missense_Mutation_p.E157Q NM_138374 NP_612383 Q96IR2 ZN845_HUMAN zinc finger protein 845 157 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GTTTCAGACCGAAGGGAAAAT 0.408 LENG8 114823 broad.mit.edu 37 19 54969780 54969780 + Missense_Mutation SNP C T T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr19:54969780C>T uc002qfv.1 + 14 2353 c.2209C>T c.(2209-2211)CGC>TGC p.R737C LENG8_uc002qfw.2_Intron Q96PV6 LENG8_HUMAN RecName: Full=Leukocyte receptor cluster member 8; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment protein binding central_nervous_system(1)|pancreas(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) AGCTCCTGGCCGCAGGCCTCC 0.602 KIR2DL4 3805 broad.mit.edu 37 19 55316286 55316286 + Missense_Mutation SNP G A A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr19:55316286G>A uc010yfm.1 + 3 155 c.115G>A c.(115-117)GCT>ACT p.A39T KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL4_uc010yfl.1_Missense_Mutation_p.A34T|KIR2DL4_uc002qhg.2_Missense_Mutation_p.A39T|KIR2DL4_uc002qhi.2_Missense_Mutation_p.A39T|KIR2DL4_uc002qhh.2_Intron|KIR2DL4_uc002qhj.2_Missense_Mutation_p.A39T|KIR2DL4_uc002qhf.2_Intron|KIR2DL4_uc010esd.2_Missense_Mutation_p.A39T|KIR2DL4_uc010ese.2_5'Flank NM_002255 NP_002246 Q99706 KI2L4_HUMAN killer cell immunoglobulin-like receptor, two 39 Extracellular (Potential). cellular defense response|regulation of immune response integral to plasma membrane protein binding|transmembrane receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0192) CTGGCCCAGCGCTGTGGTGCC 0.582 NLRP4 147945 broad.mit.edu 37 19 56369522 56369522 + Missense_Mutation SNP C T T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr19:56369522C>T uc002qmd.3 + 3 1185 c.763C>T c.(763-765)CGG>TGG p.R255W NLRP4_uc002qmf.2_Missense_Mutation_p.R180W|NLRP4_uc010etf.2_Missense_Mutation_p.R86W NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 255 NACHT. ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GATGGAGAAACGGCCGGTGCA 0.577 LTBP1 4052 broad.mit.edu 37 2 33335817 33335817 + Silent SNP G A A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr2:33335817G>A uc002ros.2 + 4 1032 c.1032G>A c.(1030-1032)CAG>CAA p.Q344Q NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 344 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CACCTTTTCAGCGTGAGTATA 0.423 KRCC1 51315 broad.mit.edu 37 2 88327482 88327482 + Missense_Mutation SNP C T T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr2:88327482C>T uc002sso.1 - 4 995 c.601G>A c.(601-603)GAG>AAG p.E201K KRCC1_uc002ssp.1_Missense_Mutation_p.E201K NM_016618 NP_057702 Q9NPI7 KRCC1_HUMAN lysine-rich coiled-coil 1 201 Lys-rich.|Potential. ovary(1) 1 ATTTCCACCTCTGTTTTCTTT 0.398 IL18RAP 8807 broad.mit.edu 37 2 103057838 103057838 + Splice_Site SNP G T T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr2:103057838G>T uc002tbx.2 + 7 1280 c.796_splice c.e7+1 p.G266_splice IL18RAP_uc010fiz.2_Splice_Site_p.G124_splice NM_003853 NP_003844 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity skin(3)|ovary(2) 5 GTAGAACTTGGTAAGCTGGGC 0.343 C2orf27A 29798 broad.mit.edu 37 2 132508374 132508374 + Translation_Start_Site SNP G A A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr2:132508374G>A uc002ttf.1 + 2 327 c.-78G>A c.(-80--76)TTGTG>TTATG NM_013310 NP_037442 Q580R0 CB027_HUMAN hypothetical protein LOC29798 0 ATCAATTTTTGTGCATTCCCA 0.383 LRP2 4036 broad.mit.edu 37 2 170009381 170009381 + Missense_Mutation SNP A G G TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr2:170009381A>G uc002ues.2 - 67 12602 c.12389T>C c.(12388-12390)CTT>CCT p.L4130P NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 4130 Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TTCCTGCACAAGATTATTGCG 0.478 LRP2 4036 broad.mit.edu 37 2 170101420 170101420 + Silent SNP C T T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr2:170101420C>T uc002ues.2 - 22 3426 c.3213G>A c.(3211-3213)GCG>GCA p.A1071A LRP2_uc010zdf.1_Silent_p.A934A NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 1071 LDL-receptor class A 9.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CACAGGTGAACGCCGAAGATG 0.473 UBR3 130507 broad.mit.edu 37 2 170929938 170929940 + In_Frame_Del DEL GAA - - TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr2:170929938_170929940delGAA uc010zdi.1 + 36 5020_5022 c.5020_5022delGAA c.(5020-5022)GAAdel p.E1677del UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_In_Frame_Del_p.E498del|UBR3_uc002uft.3_In_Frame_Del_p.E534del|UBR3_uc010zdj.1_In_Frame_Del_p.E368del|UBR3_uc002ufu.3_In_Frame_Del_p.E183del NM_172070 NP_742067 Q6ZT12 UBR3_HUMAN E3 ubiquitin-protein ligase UBR3 1677 sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding 0 TGTCTAAAAGGAAGAAGAAGAAT 0.379 AOX1 316 broad.mit.edu 37 2 201478598 201478598 + Missense_Mutation SNP C T T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr2:201478598C>T uc002uvx.2 + 15 1621 c.1520C>T c.(1519-1521)GCG>GTG p.A507V AOX1_uc010zhf.1_Missense_Mutation_p.A63V|AOX1_uc010fsu.2_5'UTR NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 507 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) TTGGGCTCGGCGCCAGGTGGG 0.473 MAPK1 5594 broad.mit.edu 37 22 22142672 22142672 + Missense_Mutation SNP G A A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr22:22142672G>A uc002zvn.2 - 6 970 c.730C>T c.(730-732)CTT>TTT p.L244F MAPK1_uc002zvo.2_Missense_Mutation_p.L244F|MAPK1_uc010gtk.1_Intron NM_002745 NP_002736 P28482 MK01_HUMAN mitogen-activated protein kinase 1 244 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent cytosol|nucleoplasm ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 Colorectal(54;0.105) all_lung(157;3.89e-05) READ - Rectum adenocarcinoma(21;0.0689) Arsenic trioxide(DB01169) GGGGATCCAAGAATACCTATC 0.353 IL2RB 3560 broad.mit.edu 37 22 37524496 37524496 + Silent SNP G T T rs143704470 TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr22:37524496G>T uc003aqv.1 - 10 1427 c.1296C>A c.(1294-1296)CCC>CCA p.P432P NM_000878 NP_000869 P14784 IL2RB_HUMAN interleukin 2 receptor beta precursor 432 Cytoplasmic (Potential). interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity 0 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) CGAGGAGACTGGGGGAGAAGA 0.662 TMPPE 643853 broad.mit.edu 37 3 33134390 33134390 + Missense_Mutation SNP C A A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr3:33134390C>A uc003cfk.2 - 2 1489 c.1298G>T c.(1297-1299)GGG>GTG p.G433V GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Missense_Mutation_p.G296V NM_001039770 NP_001034859 Q6ZT21 TMPPE_HUMAN transmembrane protein with 433 integral to membrane metal ion binding 0 CATGGGTATCCCGTAGTAGGC 0.592 TMF1 7110 broad.mit.edu 37 3 69075241 69075241 + Missense_Mutation SNP T C C TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr3:69075241T>C uc003dnn.2 - 14 3012 c.2765A>G c.(2764-2766)AAG>AGG p.K922R TMF1_uc011bfx.1_Missense_Mutation_p.K925R NM_007114 NP_009045 P82094 TMF1_HUMAN TATA element modulatory factor 1 922 Potential. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity 0 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) AGAAAATGGCTTGCGTTCCTT 0.393 CPN2 1370 broad.mit.edu 37 3 194062679 194062679 + Silent SNP G A A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr3:194062679G>A uc003fts.2 - 2 843 c.753C>T c.(751-753)AAC>AAT p.N251N NM_001080513 NP_001073982 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 251 LRR 7. protein stabilization extracellular region enzyme regulator activity ovary(5) 5 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) GCGTGATGGCGTTGCGTTGCA 0.602 RGS12 6002 broad.mit.edu 37 4 3432638 3432638 + Missense_Mutation SNP C T T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr4:3432638C>T uc003ggw.2 + 17 4974 c.4070C>T c.(4069-4071)CCG>CTG p.P1357L RGS12_uc003ggv.2_Missense_Mutation_p.P1357L|RGS12_uc003ggy.1_3'UTR|RGS12_uc003ggz.2_Missense_Mutation_p.P709L|RGS12_uc011bvs.1_3'UTR|RGS12_uc003gha.2_Missense_Mutation_p.P699L|RGS12_uc010icv.2_Missense_Mutation_p.P556L NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 1357 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ACCTTGCTGCCGCCGCCCTCC 0.667 GABRB1 2560 broad.mit.edu 37 4 47405592 47405592 + Silent SNP G T T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr4:47405592G>T uc003gxh.2 + 7 1073 c.699G>T c.(697-699)CTG>CTT p.L233L GABRB1_uc011bze.1_Silent_p.L163L NM_000812 NP_000803 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 233 Extracellular (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) ATCCACGACTGTCACTAAGTT 0.398 PDGFRA 5156 broad.mit.edu 37 4 55133901 55133901 + Missense_Mutation SNP G A A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr4:55133901G>A uc003han.3 + 7 1445 c.1114G>A c.(1114-1116)GAA>AAA p.E372K PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.E266K|PDGFRA_uc003ham.2_RNA NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 372 Ig-like C2-type 4.|Extracellular (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) AAAGATTCAGGAAATAAGGTA 0.463 Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) PDGFRA 5156 broad.mit.edu 37 4 55144136 55144136 + Missense_Mutation SNP G C C TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr4:55144136G>C uc003han.3 + 14 2296 c.1965G>C c.(1963-1965)TTG>TTC p.L655F PDGFRA_uc003haa.2_Missense_Mutation_p.L415F|PDGFRA_uc010igq.1_Missense_Mutation_p.L549F|PDGFRA_uc003ham.2_RNA|PDGFRA_uc003hao.1_Missense_Mutation_p.L34F NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 655 Protein kinase.|Cytoplasmic (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) GGCCACATTTGAACATTGTAA 0.458 Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) CLOCK 9575 broad.mit.edu 37 4 56304530 56304532 + In_Frame_Del DEL CTG - - TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr4:56304530_56304532delCTG uc003haz.1 - 23 3204_3206 c.2278_2280delCAG c.(2278-2280)CAGdel p.Q760del CLOCK_uc003hba.1_In_Frame_Del_p.Q760del|CLOCK_uc010igu.1_RNA NM_004898 NP_004889 O15516 CLOCK_HUMAN clock 760 Gln-rich. 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) cctgggagctctgctgctgctgc 0.315 GRID2 2895 broad.mit.edu 37 4 94411879 94411879 + Missense_Mutation SNP G A A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr4:94411879G>A uc011cdt.1 + 12 2206 c.1948G>A c.(1948-1950)GCA>ACA p.A650T GRID2_uc011cdu.1_Missense_Mutation_p.A555T NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 650 Helical; (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) ATCTTACACGGCAAACCTCGC 0.438 NEUROG2 63973 broad.mit.edu 37 4 113436257 113436257 + Missense_Mutation SNP C T T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr4:113436257C>T uc003ias.2 - 2 702 c.375G>A c.(373-375)ATG>ATA p.M125I NM_024019 NP_076924 Q9H2A3 NGN2_HUMAN neurogenin 2 125 Helix-loop-helix motif.|Basic motif. positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent nucleus E-box binding skin(2)|central_nervous_system(1) 3 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.00168) TGAGGTTGTGCATGCGGTTTC 0.672 PRDM9 56979 broad.mit.edu 37 5 23526957 23526957 + Missense_Mutation SNP G A A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr5:23526957G>A uc003jgo.2 + 11 1942 c.1760G>A c.(1759-1761)CGG>CAG p.R587Q NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 587 C2H2-type 4. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 GAGTGTGGGCGGGGCTTTAGC 0.607 HNSCC(3;0.000094) C5orf39 389289 broad.mit.edu 37 5 43040058 43040058 + Nonsense_Mutation SNP C A A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr5:43040058C>A uc003jnf.2 - 1 390 c.91G>T c.(91-93)GAA>TAA p.E31* C5orf39_uc010ivj.1_RNA|LOC153684_uc003jng.2_5'Flank|LOC153684_uc003jni.2_5'Flank NM_001014279 NP_001014301 Q3ZCQ2 AX2R_HUMAN annexin II receptor 31 receptor activity 0 CCACGATCTTCTGAACTCACA 0.567 OREG0016598 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MAP3K1 4214 broad.mit.edu 37 5 56168506 56168506 + Missense_Mutation SNP T C C TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr5:56168506T>C uc003jqw.3 + 8 1963 c.1462T>C c.(1462-1464)TGT>CGT p.C488R NM_005921 NP_005912 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 488 RING-type. cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) ACCTTTAATATGTCCCCTTTG 0.279 GPR98 84059 broad.mit.edu 37 5 89989726 89989726 + Silent SNP C T T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr5:89989726C>T uc003kju.2 + 33 7249 c.7153C>T c.(7153-7155)CTG>TTG p.L2385L GPR98_uc003kjt.2_Silent_p.L91L|GPR98_uc003kjv.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 2385 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CTTTGGTCGGCTGTTGTTGTT 0.428 FBN2 2201 broad.mit.edu 37 5 127728841 127728841 + Silent SNP G T T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr5:127728841G>T uc003kuu.2 - 10 1891 c.1452C>A c.(1450-1452)ATC>ATA p.I484I FBN2_uc003kuv.2_Silent_p.I451I NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 484 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GTCCAGTGATGATAGGTCCCT 0.498 PCDHGB4 8641 broad.mit.edu 37 5 140768969 140768969 + Silent SNP C T T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr5:140768969C>T uc003lkc.1 + 1 1518 c.1518C>T c.(1516-1518)AGC>AGT p.S506S PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Silent_p.S506S NM_003736 NP_003727 Q9UN71 PCDGG_HUMAN protocadherin gamma subfamily B, 4 isoform 1 506 Cadherin 5.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTCCATAAGCGCGGAGAGCG 0.662 UHRF1BP1 54887 broad.mit.edu 37 6 34827265 34827265 + Silent SNP G A A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr6:34827265G>A uc003oju.3 + 14 3366 c.3132G>A c.(3130-3132)GTG>GTA p.V1044V UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN ICBP90 binding protein 1 1044 ovary(3) 3 AGGAAGCTGTGTCCCTGACTA 0.517 MYO6 4646 broad.mit.edu 37 6 76599857 76599858 + Frame_Shift_Ins INS - A A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr6:76599857_76599858insA uc003pih.1 + 26 3021_3022 c.2742_2743insA c.(2740-2745)CAGAAAfs p.Q914fs MYO6_uc003pig.1_Frame_Shift_Ins_p.Q914fs|MYO6_uc003pii.1_Frame_Shift_Ins_p.Q914fs NM_004999 NP_004990 Q9UM54 MYO6_HUMAN myosin VI 914_915 Potential. actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding kidney(1)|pancreas(1) 2 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) GTGCATTACAGAAAAAAAAACA 0.381 ZNF735 730291 broad.mit.edu 37 7 63680474 63680474 + Missense_Mutation SNP G A A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr7:63680474G>A uc011kdn.1 + 4 1045 c.1045G>A c.(1045-1047)GGA>AGA p.G349R NM_001159524 NP_001152996 P0CB33 ZN735_HUMAN zinc finger protein 735 349 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AATTCATACTGGAGAGAAACC 0.403 TAF6 6878 broad.mit.edu 37 7 99706049 99706049 + Missense_Mutation SNP G A A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr7:99706049G>A uc003uti.2 - 13 1480 c.1399C>T c.(1399-1401)CGG>TGG p.R467W AP4M1_uc003utd.2_Intron|TAF6_uc003utg.2_Missense_Mutation_p.R389W|TAF6_uc003uth.2_Missense_Mutation_p.R524W|TAF6_uc003utk.2_Missense_Mutation_p.R467W|TAF6_uc011kji.1_Missense_Mutation_p.R504W|TAF6_uc003utj.2_Missense_Mutation_p.R457W|TAF6_uc003utl.2_Missense_Mutation_p.R467W|TAF6_uc003utm.2_Missense_Mutation_p.R467W NM_139315 NP_647476 P49848 TAF6_HUMAN TBP-associated factor 6 isoform alpha 467 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCCTGGGCCCGAGCCTTGACC 0.642 GRM8 2918 broad.mit.edu 37 7 126173406 126173406 + Missense_Mutation SNP A G G TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr7:126173406A>G uc003vlr.2 - 8 2341 c.2030T>C c.(2029-2031)TTT>TCT p.F677S GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.F677S|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 677 Cytoplasmic (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) CCCCTGCTCAAATATTCGGTG 0.502 HNSCC(24;0.065) UBN2 254048 broad.mit.edu 37 7 138969015 138969015 + Missense_Mutation SNP C A A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr7:138969015C>A uc011kqr.1 + 15 3364 c.3364C>A c.(3364-3366)CAG>AAG p.Q1122K NM_173569 NP_775840 Q6ZU65 UBN2_HUMAN ubinuclein 2 1122 Ser-rich. ovary(1)|skin(1) 2 CATCAGCAGACAGTCTCCCAC 0.498 ARHGEF10 9639 broad.mit.edu 37 8 1871717 1871717 + Silent SNP G A A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr8:1871717G>A uc003wpr.2 + 20 2521 c.2343G>A c.(2341-2343)GCG>GCA p.A781A ARHGEF10_uc003wpq.1_Silent_p.A805A|ARHGEF10_uc003wps.2_Silent_p.A743A|ARHGEF10_uc003wpv.2_Silent_p.A514A|ARHGEF10_uc010lre.2_Silent_p.A461A NM_014629 NP_055444 O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor 10 806 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) TCAGAGCTGCGGACTGCTGCA 0.418 CTHRC1 115908 broad.mit.edu 37 8 104390318 104390318 + Missense_Mutation SNP C T T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr8:104390318C>T uc003ylk.2 + 3 535 c.436C>T c.(436-438)CGG>TGG p.R146W NM_138455 NP_612464 Q96CG8 CTHR1_HUMAN collagen triple helix repeat containing 1 146 collagen ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197) TGGCTCACTTCGGCTAAAATG 0.373 TG 7038 broad.mit.edu 37 8 134042090 134042090 + Frame_Shift_Del DEL G - - TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr8:134042090delG uc003ytw.2 + 41 7102 c.7061delG c.(7060-7062)TGGfs p.W2354fs TG_uc010mdw.2_Frame_Shift_Del_p.W1113fs|TG_uc011ljb.1_Frame_Shift_Del_p.W723fs|TG_uc011ljc.1_Frame_Shift_Del_p.W487fs NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 2354 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGTGGCAACTGGGGGCTGCTG 0.577 DOCK8 81704 broad.mit.edu 37 9 439266 439266 + Missense_Mutation SNP G C C TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr9:439266G>C uc003zgf.2 + 40 5213 c.5101G>C c.(5101-5103)GAG>CAG p.E1701Q DOCK8_uc010mgu.2_Missense_Mutation_p.E1003Q|DOCK8_uc010mgv.2_Missense_Mutation_p.E1601Q|DOCK8_uc003zgk.2_Missense_Mutation_p.E1159Q NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1701 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) CAATGTGCTGGAGGAGTCTGT 0.552 KIAA1797 54914 broad.mit.edu 37 9 20821058 20821058 + Missense_Mutation SNP T C C TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr9:20821058T>C uc003zog.1 + 16 2144 c.1781T>C c.(1780-1782)ATA>ACA p.I594T KIAA1797_uc003zoh.1_Missense_Mutation_p.I30T NM_017794 NP_060264 Q5VW36 K1797_HUMAN hypothetical protein LOC54914 594 integral to membrane binding ovary(8)|breast(1)|kidney(1) 10 GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11) ATCAGAGATATATGTAAGCAG 0.363 TAF1L 138474 broad.mit.edu 37 9 32630579 32630579 + Missense_Mutation SNP C T T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr9:32630579C>T uc003zrg.1 - 1 5089 c.4999G>A c.(4999-5001)GAT>AAT p.D1667N uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1667 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TCATACATATCAGGAGGCTGA 0.463 ZNF658 26149 broad.mit.edu 37 9 40772401 40772401 + Missense_Mutation SNP T A A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr9:40772401T>A uc004abs.2 - 5 3026 c.2874A>T c.(2872-2874)AGA>AGT p.R958S ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.R958S NM_033160 NP_149350 Q5TYW1 ZN658_HUMAN zinc finger protein 658 958 C2H2-type 21. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) CTGTGTGAATTCTTTGATGTA 0.438 TNFSF8 944 broad.mit.edu 37 9 117666360 117666360 + Missense_Mutation SNP C T T rs145748228 TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr9:117666360C>T uc004bji.1 - 4 743 c.556G>A c.(556-558)GTA>ATA p.V186I NM_001244 NP_001235 P32971 TNFL8_HUMAN tumor necrosis factor (ligand) superfamily, 186 Extracellular (Potential). cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction extracellular space|integral to plasma membrane cytokine activity|tumor necrosis factor receptor binding lung(3)|skin(2)|ovary(1) 6 TTCTGGTATACGTGTTTCGTT 0.418 BCOR 54880 broad.mit.edu 37 X 39923055 39923055 + Nonsense_Mutation SNP C T T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chrX:39923055C>T uc004den.3 - 8 3945 c.3653G>A c.(3652-3654)TGG>TAG p.W1218* BCOR_uc004dep.3_Nonsense_Mutation_p.W1184*|BCOR_uc004deo.3_Nonsense_Mutation_p.W1166*|BCOR_uc010nhb.2_5'Flank|BCOR_uc004dem.3_Nonsense_Mutation_p.W1184* NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN BCL-6 interacting corepressor isoform c 1218 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 CTGCTGCTCCCATCGTTCTCT 0.542 TAF1 6872 broad.mit.edu 37 X 70680612 70680612 + Silent SNP C T T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chrX:70680612C>T uc004dzu.3 + 37 5406 c.5355C>T c.(5353-5355)GAC>GAT p.D1785D BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Silent_p.D1806D|TAF1_uc004dzv.3_Silent_p.D993D|TAF1_uc010nle.1_RNA|TAF1_uc010nlf.1_Silent_p.D210D|TAF1_uc004dzx.2_RNA|TAF1_uc004dzy.2_RNA|TAF1_uc004dzw.1_RNA|TAF1_uc010nlg.1_RNA NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 1785 Asp/Glu-rich (acidic tail).|Protein kinase 2. G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) ATGAGGGAGACGGTGGGGAGG 0.507 CYLC1 1538 broad.mit.edu 37 X 83128394 83128394 + Silent SNP G A A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chrX:83128394G>A uc004eei.1 + 4 699 c.678G>A c.(676-678)AGG>AGA p.R226R CYLC1_uc004eeh.1_Silent_p.R225R NM_021118 NP_066941 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head 226 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity ovary(4)|skin(1) 5 ATTTGAAGAGGTCAAAGACTA 0.318 PCDH11X 27328 broad.mit.edu 37 X 91132792 91132792 + Missense_Mutation SNP G A A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chrX:91132792G>A uc004efk.1 + 2 2398 c.1553G>A c.(1552-1554)CGT>CAT p.R518H PCDH11X_uc004efl.1_Missense_Mutation_p.R518H|PCDH11X_uc004efo.1_Missense_Mutation_p.R518H|PCDH11X_uc010nmv.1_Missense_Mutation_p.R518H|PCDH11X_uc004efm.1_Missense_Mutation_p.R518H|PCDH11X_uc004efn.1_Missense_Mutation_p.R518H|PCDH11X_uc004efh.1_Missense_Mutation_p.R518H|PCDH11X_uc004efj.1_Missense_Mutation_p.R518H NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 518 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 CTGGATTGTCGTACAGGCATG 0.433