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 CROCC 9696 broad.mit.edu 37 1 17280823 17280823 + Missense_Mutation SNP G G C TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr1:17280823G>C uc001azt.2 + 22 3361 c.3292G>C c.(3292-3294)GAT>CAT p.D1098H CROCC_uc009voz.1_Missense_Mutation_p.D697H|CROCC_uc001azu.2_Missense_Mutation_p.D401H NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 1098 Potential. cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GCAGAAACGAGATGCCCAGAG 0.632000 OR6N1 128372 broad.mit.edu 37 1 158735615 158735615 + Missense_Mutation SNP G G T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr1:158735615G>T uc010piq.1 - 1 858 c.858C>A c.(856-858)AAC>AAA p.N286K NM_001005185 NP_001005185 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, 286 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) AGATGAAGGGGTTGAGGAAGG 0.527000 PIGM 93183 broad.mit.edu 37 1 160001391 160001391 + Missense_Mutation SNP A A G TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr1:160001391A>G uc001fuv.1 - 1 393 c.139T>C c.(139-141)TAT>CAT p.Y47H NM_145167 NP_660150 Q9H3S5 PIGM_HUMAN phosphatidylinositol glycan anchor biosynthesis, 47 Lumenal (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane ovary(2)|skin(1) 3 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ATGTCCGTATACCTCACGTGC 0.622000 KNDC1 85442 broad.mit.edu 37 10 135000076 135000076 + Silent SNP C C T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr10:135000076C>T uc001llz.1 + 6 1225 c.1224C>T c.(1222-1224)GCC>GCT p.A408A KNDC1_uc001lma.1_Silent_p.A343A NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 408 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) CAGCAGAGGCCCCTGCAGACC 0.672000 OR52N4 390072 broad.mit.edu 37 11 5776432 5776432 + Silent SNP G G A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr11:5776432G>A uc001mbu.2 + 1 510 c.462G>A c.(460-462)GGG>GGA p.G154G TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001005175 NP_001005175 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, 154 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) TCCTGAGAGGGGTATTACTCA 0.493000 CCDC34 91057 broad.mit.edu 37 11 27360462 27360462 + Missense_Mutation SNP G G T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr11:27360462G>T uc001mrh.1 - 6 1082 c.1028C>A c.(1027-1029)CCT>CAT p.P343H NM_030771 NP_110398 Q96HJ3 CCD34_HUMAN coiled-coil domain containing 34 isoform 1 343 0 ACTTATCACAGGTCTTTTACT 0.418000 PICALM 8301 broad.mit.edu 37 11 85714475 85714475 + Missense_Mutation SNP T T C TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr11:85714475T>C uc001pbm.2 - 9 1113 c.827A>G c.(826-828)GAT>GGT p.D276G PICALM_uc001pbl.2_Missense_Mutation_p.D276G|PICALM_uc001pbn.2_Missense_Mutation_p.D276G|PICALM_uc010rtl.1_Missense_Mutation_p.D225G|PICALM_uc010rtk.1_5'UTR|PICALM_uc001pbo.1_5'UTR NM_007166 NP_009097 Q13492 PICAL_HUMAN phosphatidylinositol-binding clathrin assembly 276 clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane 1-phosphatidylinositol binding|clathrin heavy chain binding urinary_tract(1)|ovary(1) 2 Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092) TTCCAAAGCATCAAGAAGACT 0.368000 T MLLT10|MLL TALL|AML| KSR2 283455 broad.mit.edu 37 12 118198881 118198881 + Silent SNP C C T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr12:118198881C>T uc001two.2 - 4 889 c.834G>A c.(832-834)GCG>GCA p.A278A NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 307 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCCGATGCAGCGCGGTGAATC 0.662000 TUBGCP3 10426 broad.mit.edu 37 13 113176722 113176722 + Missense_Mutation SNP A A G TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr13:113176722A>G uc001vse.1 - 14 1844 c.1657T>C c.(1657-1659)TAC>CAC p.Y553H TUBGCP3_uc010tjq.1_Missense_Mutation_p.Y543H|TUBGCP3_uc001vsf.2_Missense_Mutation_p.Y553H NM_006322 NP_006313 Q96CW5 GCP3_HUMAN tubulin, gamma complex associated protein 3 553 G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization centriole|cytosol|polar microtubule gamma-tubulin binding|structural constituent of cytoskeleton central_nervous_system(1) 1 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) AGCAAGCTGTACTTTTTATTG 0.428000 MCF2L 23263 broad.mit.edu 37 13 113742712 113742712 + Silent SNP T T C TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr13:113742712T>C uc001vsu.2 + 24 2953 c.2931T>C c.(2929-2931)GCT>GCC p.A977A MCF2L_uc001vsq.2_Silent_p.A977A|MCF2L_uc010tjr.1_Silent_p.A920A|MCF2L_uc001vsr.2_Silent_p.A924A|MCF2L_uc001vss.3_Silent_p.A918A|MCF2L_uc010tjs.1_Silent_p.A918A NM_001112732 NP_001106203 O15068 MCF2L_HUMAN MCF.2 cell line derived transforming 950 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity ovary(1)|kidney(1) 2 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) AGCTGCAGGCTTGTAGAGGTG 0.547000 GABRB3 2562 broad.mit.edu 37 15 26866506 26866506 + Missense_Mutation SNP C C T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr15:26866506C>T uc001zaz.2 - 4 558 c.416G>A c.(415-417)CGC>CAC p.R139H GABRB3_uc010uae.1_Missense_Mutation_p.R54H|GABRB3_uc001zba.2_Missense_Mutation_p.R139H|GABRB3_uc001zbb.2_Missense_Mutation_p.R195H|GABRB3_uc001zbc.2_RNA NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 139 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 upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) ACGGATCATGCGGTTTTTCAC 0.488000 OTUD7A 161725 broad.mit.edu 37 15 31818561 31818561 + Missense_Mutation SNP G G A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr15:31818561G>A uc001zfq.2 - 6 956 c.863C>T c.(862-864)ACG>ATG p.T288M OTUD7A_uc001zfr.2_Missense_Mutation_p.T295M NM_130901 NP_570971 Q8TE49 OTU7A_HUMAN OTU domain containing 7A 288 OTU.|Catalytic (By similarity).|TRAF-binding (By similarity). cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding pancreas(1)|skin(1) 2 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) CCCCCCGCCCGTGCCGCCATT 0.672000 TTBK2 146057 broad.mit.edu 37 15 43102862 43102862 + Missense_Mutation SNP A A G TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr15:43102862A>G uc001zqo.2 - 9 1211 c.772T>C c.(772-774)TTT>CTT p.F258L TTBK2_uc010bcy.2_Missense_Mutation_p.F189L|TTBK2_uc001zqp.2_Missense_Mutation_p.F258L|TTBK2_uc010bcz.1_Missense_Mutation_p.F223L NM_173500 NP_775771 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 258 Protein kinase. cell death ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1) 7 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) TGGTCTAGAAAGATGCTGAAT 0.393000 FBN1 2200 broad.mit.edu 37 15 48787704 48787704 + Missense_Mutation SNP G G T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr15:48787704G>T uc001zwx.1 - 21 2829 c.2501C>A c.(2500-2502)TCT>TAT p.S834Y NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 834 EGF-like 13; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) AGTACTTTCAGAAGAACATTC 0.348000 AGBL1 123624 broad.mit.edu 37 15 86697783 86697783 + Missense_Mutation SNP G G T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr15:86697783G>T uc002blz.1 + 3 327 c.247G>T c.(247-249)GCC>TCC p.A83S NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 83 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 GCGTGTGTTTGCCTCCAGTGG 0.522000 CDH1 999 broad.mit.edu 37 16 68847277 68847277 + Missense_Mutation SNP A A T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr16:68847277A>T uc002ewg.1 + 9 1323 c.1199A>T c.(1198-1200)GAT>GTT p.D400V CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Intron NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein 400 Cadherin 3.|Extracellular (Potential). Missing (in a gastric carcinoma sample; loss of heterozygosity). adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.Y380_K440del(5)|p.T399fs*17(3)|p.D400del(1)|p.D400Y(1) breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) AAAGTGACTGATGCTGATGCC 0.473000 Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T rs11540652 TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr17:7577538C>T uc002gim.2 - 7 937 c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (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.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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) GATGGGCCTCCGGTTCATGCC 0.572000 R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG) 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) KSR1 8844 broad.mit.edu 37 17 25936339 25936339 + Missense_Mutation SNP G G A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr17:25936339G>A uc010crg.2 + 17 2309 c.1864G>A c.(1864-1866)GTG>ATG p.V622M KSR1_uc002gzm.2_Missense_Mutation_p.V401M|KSR1_uc002gzn.2_5'Flank NM_014238 NP_055053 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 757 Protein kinase. Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|central_nervous_system(1) 4 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) GATCTCAGGCGTGGTCCGAGA 0.542000 EPB41L3 23136 broad.mit.edu 37 18 5438045 5438045 + Missense_Mutation SNP T T A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr18:5438045T>A uc002kmt.1 - 6 680 c.594A>T c.(592-594)GAA>GAT p.E198D EPB41L3_uc010wzh.1_Missense_Mutation_p.E198D|EPB41L3_uc002kmu.1_Missense_Mutation_p.E198D|EPB41L3_uc010dkq.1_Missense_Mutation_p.E89D|EPB41L3_uc010dks.1_Missense_Mutation_p.E220D|EPB41L3_uc002kmv.1_Missense_Mutation_p.E89D NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 198 FERM. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 TGGTGATATCTTCAGATAGTT 0.408000 C3 718 broad.mit.edu 37 19 6710823 6710823 + Missense_Mutation SNP G G A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr19:6710823G>A uc002mfm.2 - 13 1575 c.1513C>T c.(1513-1515)CGC>TGC p.R505C NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 505 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CGCACCTGGCGTCCCGCCTTC 0.652000 INSR 3643 broad.mit.edu 37 19 7132258 7132258 + Missense_Mutation SNP G G A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr19:7132258G>A uc002mgd.1 - 14 2862 c.2753C>T c.(2752-2754)CCG>CTG p.P918L INSR_uc002mge.1_Missense_Mutation_p.P906L NM_000208 NP_000199 P06213 INSR_HUMAN insulin receptor isoform Long precursor 918 Fibronectin type-III 3.|Extracellular (Potential). activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1) 12 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GTAGTTCCCCGGTGACAGCCC 0.607000 COL5A3 50509 broad.mit.edu 37 19 10100039 10100039 + Missense_Mutation SNP G G T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr19:10100039G>T uc002mmq.1 - 26 2136 c.2050C>A c.(2050-2052)CAC>AAC p.H684N NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 684 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) TGTCCTGGGTGACCCTGGGGA 0.582000 ZNF257 113835 broad.mit.edu 37 19 22271685 22271685 + Missense_Mutation SNP G G C TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr19:22271685G>C uc010ecx.2 + 4 1302 c.1133G>C c.(1132-1134)GGA>GCA p.G378A ZNF257_uc010ecy.2_Missense_Mutation_p.G346A NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 378 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.0961)|Lung NSC(12;0.103) GAAGAGTGTGGAAAAGCCTTT 0.373000 TSKS 60385 broad.mit.edu 37 19 50249743 50249743 + Missense_Mutation SNP C C T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr19:50249743C>T uc002ppm.2 - 6 987 c.976G>A c.(976-978)GGC>AGC p.G326S NM_021733 NP_068379 Q9UJT2 TSKS_HUMAN testis-specific kinase substrate 326 protein binding large_intestine(1)|skin(1) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) TCTTCGATGCCGGTGAACAGC 0.697000 AURKC 6795 broad.mit.edu 37 19 57746374 57746374 + Missense_Mutation SNP A A T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr19:57746374A>T uc002qoe.2 + 6 896 c.707A>T c.(706-708)TAT>TTT p.Y236F AURKC_uc002qoc.2_Missense_Mutation_p.Y217F|AURKC_uc002qod.2_Missense_Mutation_p.Y202F|AURKC_uc010etv.2_Missense_Mutation_p.Y233F NM_001015878 NP_001015878 Q9UQB9 AURKC_HUMAN aurora kinase C isoform 1 236 Protein kinase. cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity lung(4)|ovary(2) 6 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) CTGGTGGGATATCCACCCTTT 0.527000 WDR33 55339 broad.mit.edu 37 2 128477550 128477550 + Silent SNP A A G TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr2:128477550A>G uc002tpg.1 - 16 2232 c.2049T>C c.(2047-2049)CCT>CCC p.P683P NM_018383 NP_060853 Q9C0J8 WDR33_HUMAN WD repeat domain 33 isoform 1 683 Collagen-like. postreplication repair|spermatogenesis collagen|nucleus protein binding 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) AAGGGCCATGAGGTCCAGGAT 0.632000 CCDC141 285025 broad.mit.edu 37 2 179736940 179736940 + Missense_Mutation SNP G G A rs146458136 TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr2:179736940G>A uc002unf.1 - 3 331 c.274C>T c.(274-276)CGG>TGG p.R92W NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 92 Potential. protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CATGCCAGCCGAAGGAGGCTA 0.468000 CTLA4 1493 broad.mit.edu 37 2 204735471 204735471 + Missense_Mutation SNP T T C rs1065442 TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr2:204735471T>C uc002vak.1 + 2 429 c.272T>C c.(271-273)ATG>ACG p.M91T CTLA4_uc002val.1_Missense_Mutation_p.M91T|CTLA4_uc010fty.1_Intron|CTLA4_uc010ftz.1_Intron NM_005214 NP_005205 P16410 CTLA4_HUMAN cytotoxic T-lymphocyte-associated protein 4 91 Ig-like V-type.|Extracellular (Potential). B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm 0 Abatacept(DB01281) ACCTACATGATGGGGAATGAG 0.547000 SLC16A14 151473 broad.mit.edu 37 2 230902153 230902153 + Silent SNP C C T rs111580291 TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr2:230902153C>T uc002vqd.1 - 5 1839 c.1476G>A c.(1474-1476)CCG>CCA p.P492P FBXO36_uc010fxi.1_Intron NM_152527 NP_689740 Q7RTX9 MOT14_HUMAN solute carrier family 16 (monocarboxylic acid 492 Helical; (Potential). integral to membrane|plasma membrane symporter activity ovary(4)|skin(2) 6 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) TTCGAATGCACGGCTGAATAA 0.328000 C20orf177 63939 broad.mit.edu 37 20 58519694 58519694 + Silent SNP C C A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr20:58519694C>A uc002yba.2 + 5 1111 c.696C>A c.(694-696)TCC>TCA p.S232S C20orf177_uc010zzx.1_Silent_p.S75S|C20orf177_uc002ybc.2_Silent_p.S232S NM_022106 NP_071389 Q9NTX9 CT177_HUMAN hypothetical protein LOC63939 232 ovary(2)|breast(1) 3 all_lung(29;0.00693) BRCA - Breast invasive adenocarcinoma(7;1.22e-08) GTGCTCTGTCCAAGCCACTAC 0.522000 PRPF6 24148 broad.mit.edu 37 20 62658497 62658497 + Missense_Mutation SNP G G A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr20:62658497G>A uc002yho.2 + 16 2359 c.2191G>A c.(2191-2193)GCC>ACC p.A731T PRPF6_uc002yhp.2_Missense_Mutation_p.A691T NM_012469 NP_036601 O94906 PRP6_HUMAN PRP6 pre-mRNA processing factor 6 homolog 731 HAT 8. assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity ovary(2) 2 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) GGCGCGGGAAGCCTATAACCA 0.617000 TIAM1 7074 broad.mit.edu 37 21 32493037 32493037 + Silent SNP G G A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr21:32493037G>A uc002yow.1 - 29 4897 c.4425C>T c.(4423-4425)CCC>CCT p.P1475P TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Silent_p.P1415P NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1475 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 CCCCACCACCGGGGGGCTGCT 0.572000 SFRS15 57466 broad.mit.edu 37 21 33044158 33044158 + Missense_Mutation SNP A A C TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr21:33044158A>C uc002ypd.2 - 20 3424 c.2998T>G c.(2998-3000)TTT>GTT p.F1000V SFRS15_uc002ype.2_Missense_Mutation_p.F978V|SFRS15_uc010glu.2_Missense_Mutation_p.F985V NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 1000 nucleus nucleotide binding|RNA binding 0 CTTCTTCCAAACCTTTCTTGG 0.443000 GTPBP1 9567 broad.mit.edu 37 22 39122390 39122390 + Missense_Mutation SNP G G A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr22:39122390G>A uc003awg.2 + 8 1500 c.1346G>A c.(1345-1347)CGC>CAC p.R449H NM_004286 NP_004277 O00178 GTPB1_HUMAN GTP binding protein 1 449 immune response|positive regulation of mRNA catabolic process|signal transduction cytoplasmic exosome (RNase complex)|cytosol GTP binding|GTPase activity ovary(1) 1 Melanoma(58;0.04) CATCGCAAGCGCATGCCTGTC 0.552000 CAND2 23066 broad.mit.edu 37 3 12858630 12858630 + Silent SNP T T C TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr3:12858630T>C uc003bxk.2 + 10 2248 c.2199T>C c.(2197-2199)AGT>AGC p.S733S CAND2_uc003bxj.2_Silent_p.S640S NM_001162499 NP_001155971 O75155 CAND2_HUMAN TBP-interacting protein isoform 1 733 HEAT 16. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding skin(3)|pancreas(1) 4 TGGAGGTCAGTGGCCCTGTGC 0.652000 ITIH3 3699 broad.mit.edu 37 3 52837878 52837878 + Missense_Mutation SNP G G A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr3:52837878G>A uc003dfv.2 + 14 1753 c.1717G>A c.(1717-1719)GCC>ACC p.A573T ITIH3_uc011bek.1_Intron NM_002217 NP_002208 Q06033 ITIH3_HUMAN inter-alpha (globulin) inhibitor H3 573 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|liver(1) 3 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) CAGCAAGAACGCCCATGGCGA 0.627000 PLXNA1 5361 broad.mit.edu 37 3 126724992 126724992 + Silent SNP C C T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr3:126724992C>T uc003ejg.2 + 7 1903 c.1899C>T c.(1897-1899)TTC>TTT p.F633F NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 656 Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) CTGTGGACTTCGTCTTCTACA 0.607000 GHSR 2693 broad.mit.edu 37 3 172165804 172165804 + Missense_Mutation SNP T T A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr3:172165804T>A uc003fib.1 - 1 400 c.400A>T c.(400-402)ATC>TTC p.I134F GHSR_uc011bpv.1_Missense_Mutation_p.I134F NM_198407 NP_940799 Q92847 GHSR_HUMAN growth hormone secretagogue receptor isoform 1a 134 Helical; Name=3; (Potential). actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity lung(3)|ovary(1)|central_nervous_system(1) 5 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) AGCGCTGTGATGGTGAGCACC 0.612000 PSMD2 5708 broad.mit.edu 37 3 184024196 184024196 + Missense_Mutation SNP C C G TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr3:184024196C>G uc003fnn.1 + 15 1896 c.1863C>G c.(1861-1863)GAC>GAG p.D621E PSMD2_uc011brj.1_Missense_Mutation_p.D462E|PSMD2_uc011brk.1_Missense_Mutation_p.D491E NM_002808 NP_002799 Q13200 PSMD2_HUMAN proteasome 26S non-ATPase subunit 2 621 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding 0 all_cancers(143;1.54e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Bortezomib(DB00188) AACACTTTGACTCCaaagaga 0.383000 MAST4 375449 broad.mit.edu 37 5 66429354 66429354 + Silent SNP C C T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr5:66429354C>T uc003jut.1 + 16 1607 c.1539C>T c.(1537-1539)ACC>ACT p.T513T MAST4_uc003juu.1_Silent_p.T523T|MAST4_uc011cra.1_Silent_p.T496T|MAST4_uc003juv.2_Silent_p.T508T|MAST4_uc003juw.2_Silent_p.T508T NM_015183 NP_055998 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase 705 Protein kinase. cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) TGTTGGTTACCTCCATGGGGC 0.418000 PCDHA11 56138 broad.mit.edu 37 5 140249981 140249981 + Silent SNP G G A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr5:140249981G>A uc003lia.2 + 1 2151 c.1293G>A c.(1291-1293)TCG>TCA p.S431S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.S431S NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 431 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGGGGGTTCGCCTTCTCTGT 0.622000 PCDHA11 56138 broad.mit.edu 37 5 140250857 140250857 + Silent SNP G G A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr5:140250857G>A uc003lia.2 + 1 3027 c.2169G>A c.(2167-2169)TCG>TCA p.S723S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.S723S NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 723 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGGTGGTCGGCAACGCCCA 0.672000 MXD3 83463 broad.mit.edu 37 5 176734800 176734800 + Missense_Mutation SNP G G A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr5:176734800G>A uc003mgb.2 - 5 948 c.487C>T c.(487-489)CGC>TGC p.R163C MXD3_uc010jkk.2_Missense_Mutation_p.R163C|MXD3_uc003mga.3_Missense_Mutation_p.R163C|MXD3_uc003mgc.2_Missense_Mutation_p.R153C NM_031300 NP_112590 Q9BW11 MAD3_HUMAN MAX dimerization protein 3 isoform a 163 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAGTCTGAGCGCTCAGAGGAG 0.721000 MBOAT1 154141 broad.mit.edu 37 6 20113188 20113188 + Silent SNP C C T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr6:20113188C>T uc003ncx.1 - 11 1333 c.1128G>A c.(1126-1128)CTG>CTA p.L376L MBOAT1_uc011dji.1_Silent_p.L227L NM_001080480 NP_001073949 Q6ZNC8 MBOA1_HUMAN membrane bound O-acyltransferase domain 376 Helical; (Potential). phospholipid biosynthetic process integral to membrane acyltransferase activity 0 all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109) OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454) ACAAAGCAGACAGGATGAAGG 0.468000 OPN5 221391 broad.mit.edu 37 6 47776100 47776100 + Missense_Mutation SNP G G T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr6:47776100G>T uc003ozc.2 + 5 972 c.967G>T c.(967-969)GCA>TCA p.A323S OPN5_uc003ozd.2_Missense_Mutation_p.A158S NM_181744 NP_859528 Q6U736 OPN5_HUMAN opsin 5 isoform 1 323 Cytoplasmic (Potential). phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity ovary(1) 1 TGGTTTGAAAGCAACCAAGAA 0.418000 WRN 7486 broad.mit.edu 37 8 31014945 31014945 + Missense_Mutation SNP C C T rs146861737 TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr8:31014945C>T uc003xio.3 + 33 4669 c.3881C>T c.(3880-3882)GCG>GTG p.A1294V WRN_uc010lvk.2_Missense_Mutation_p.A761V NM_000553 NP_000544 Q14191 WRN_HUMAN Werner syndrome protein 1294 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 7 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) TTATCCCAAGCGGTGAAAGCT 0.488000 Mis|N|F|S osteosarcoma|meningioma|others Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Werner_syndrome CDKN2A 1029 broad.mit.edu 37 9 21971111 21971111 + Missense_Mutation SNP G G A rs121913385 TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr9:21971111G>A uc003zpk.2 - 2 459 c.247C>T c.(247-249)CAC>TAC p.H83Y MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.A138V NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 83 ANK 3. H -> N (in a lung tumor).|H -> Y (in a pancreas and a head and neck tumor). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.H83Y(28)|p.?(13)|p.H83fs*2(2)|p.H83P(2)|p.H83N(1)|p.V82fs*62(1)|p.V82_E88del(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.A138V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.H83R(1)|p.H83Q(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GCAGCGTCGTGCACGGGTCGG 0.741000 H83Y(CALU3_LUNG)|H83Y(JHH2_LIVER)|H83Y(HS944T_SKIN)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) LINGO2 158038 broad.mit.edu 37 9 27949698 27949698 + Silent SNP G G A rs138682295 TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr9:27949698G>A uc003zqu.1 - 2 1166 c.972C>T c.(970-972)CGC>CGT p.R324R LINGO2_uc010mjf.1_Silent_p.R324R|LINGO2_uc003zqv.1_Silent_p.R324R NM_152570 NP_689783 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 324 Extracellular (Potential).|LRR 12. integral to membrane upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) CATTGAGCACGCGTAGGAAGC 0.542000 NOL8 55035 broad.mit.edu 37 9 95073453 95073453 + Missense_Mutation SNP C C G TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr9:95073453C>G uc004arv.2 - 8 2784 c.2447G>C c.(2446-2448)AGC>ACC p.S816T NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Missense_Mutation_p.S48T|NOL8_uc011ltw.1_Missense_Mutation_p.S748T NM_017948 NP_060418 Q76FK4 NOL8_HUMAN nucleolar protein 8 816 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding ovary(1) 1 TCCTGGATGGCTCTGCTCCTG 0.488000 OR1J4 26219 broad.mit.edu 37 9 125281714 125281714 + Missense_Mutation SNP A A C TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr9:125281714A>C uc011lyw.1 + 1 295 c.295A>C c.(295-297)ACT>CCT p.T99P NM_001004452 NP_001004452 Q8NGS1 OR1J4_HUMAN olfactory receptor, family 1, subfamily J, 99 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGGGTGTGTAACTCAGATGTA 0.423000 SSX1 6756 broad.mit.edu 37 X 48116745 48116745 + Missense_Mutation SNP G G T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chrX:48116745G>T uc004djb.1 + 2 160 c.69G>T c.(67-69)AAG>AAT p.K23N NM_005635 NP_005626 Q16384 SSX1_HUMAN synovial sarcoma, X breakpoint 1 23 KRAB-related. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|transcription corepressor activity SS18/SSX1(1169) soft_tissue(1169) 1169 AGAGAAGCAAGGTGACGTGAC 0.562000 SERPINA7 6906 broad.mit.edu 37 X 105279201 105279201 + Silent SNP C C T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chrX:105279201C>T uc004eme.1 - 2 814 c.798G>A c.(796-798)CTG>CTA p.L266L SERPINA7_uc010npd.2_Silent_p.L266L|SERPINA7_uc010npe.1_Silent_p.L266L NM_000354 NP_000345 P05543 THBG_HUMAN serine (or cysteine) proteinase inhibitor, clade 266 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity 0 Levothyroxine(DB00451)|Liothyronine(DB00279) CAAAGAGTGCCAGAGCATTCT 0.463000 MAGEC1 9947 broad.mit.edu 37 X 140995215 140995215 + Silent SNP T T A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chrX:140995215T>A uc004fbt.2 + 4 2311 c.2025T>A c.(2023-2025)CCT>CCA p.P675P MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 675 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) CCCAATCTCCTCTCCAGAGTC 0.572000 HNSCC(15;0.026) DUSP19 142679 broad.mit.edu 37 2 183948285 183948286 + Splice_Site INS - - A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr2:183948284_183948285T>TA uc002upd.3 + 2 648 c.273_splice c.e2+2 p.K91_splice DUSP19_uc010frp.3_Splice_Site_p.K91_splice|DUSP19_uc010zfr.2_Intron|DUSP19_uc002upe.3_Splice_Site_p.K91_splice NM_080876 NP_543152 Q8WTR2 DUS19_HUMAN Homo sapiens dual specificity phosphatase 19 (DUSP19), transcript variant 1, mRNA. 91 JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity cytoplasm JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1) 17 AAGAATAAGGTAAAAAAATGCT 0.302 SMAD4 4089 broad.mit.edu 37 18 48591917 48591931 + In_Frame_Del DEL TCGCTTTTGTTTGGG TCGCTTTTGTTTGGG - rs80338963 byFrequency TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr18:48591917_48591931delTCGCTTTTGTTTGGG uc010xdp.1 + 9 1618_1632 c.1080_1094delTCGCTTTTGTTTGGG c.(1078-1095)GATCGCTTTTGTTTGGGT>GAT p.RFCLG361del SMAD4_uc002lfb.3_In_Frame_Del_p.RFCLG206del NM_005359 NP_005350 Q13485 SMAD4_HUMAN mothers against decapentaplegic homolog 4 361_365 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(35)|p.R361C(6)|p.R361H(3)|p.?(2)|p.F362fs*2(1)|p.R361S(1)|p.C363R(1)|p.C363S(1) pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1) 369 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) CTGGAGGAGATCGCTTTTGTTTGGGTCAACTCTCC 0.409 Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia DUSP19 142679 broad.mit.edu 37 2 183948285 183948286 + Splice_Site INS - - A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f g.chr2:183948284_183948285T>TA uc002upd.3 + 2 648 c.273_splice c.e2+2 p.K91_splice DUSP19_uc010frp.3_Splice_Site_p.K91_splice|DUSP19_uc010zfr.2_Intron|DUSP19_uc002upe.3_Splice_Site_p.K91_splice NM_080876 NP_543152 Q8WTR2 DUS19_HUMAN Homo sapiens dual specificity phosphatase 19 (DUSP19), transcript variant 1, mRNA. 91 JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity cytoplasm JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1) 17 AAGAATAAGGTAAAAAAATGCT 0.302