Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut ABCC9 10060 broad.mit.edu 37 12 22048219 22048219 + Missense_Mutation SNP G G A TCGA-MK-A84Z-01A-11D-A397-08 TCGA-MK-A84Z-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba6d50b1-3968-4b7f-a87f-03c977b442c4 3d90d12d-2584-4528-8e66-55b7401b9bdf g.chr12:22048219G>A ENST00000261200.4 - 11 1648 c.1649C>T c.(1648-1650)gCt>gTt p.A550V ABCC9_ENST00000261201.4_Missense_Mutation_p.A550V|ABCC9_ENST00000345162.2_Missense_Mutation_p.A550V NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 550 ABC transmembrane type-1 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGCAAGAACAGCTGCTATGGG 0.313000 13 24 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884216 228884216 + Missense_Mutation SNP C C T TCGA-MK-A84Z-01A-11D-A397-08 TCGA-MK-A84Z-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba6d50b1-3968-4b7f-a87f-03c977b442c4 3d90d12d-2584-4528-8e66-55b7401b9bdf g.chr2:228884216C>T ENST00000392056.3 - 7 1400 c.1354G>A c.(1354-1356)Gtt>Att p.V452I SPHKAP_ENST00000344657.5_Missense_Mutation_p.V452I NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 452 cytoplasm protein binding p.V452I(2) NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CTCTGAACAACGACGATTTTG 0.507000 4 77 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-MK-A84Z-01A-11D-A397-08 TCGA-MK-A84Z-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba6d50b1-3968-4b7f-a87f-03c977b442c4 3d90d12d-2584-4528-8e66-55b7401b9bdf g.chr11:533874T>C ENST00000417302.1 - 3 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GTACTCCTCCTGGCCGGCGGT 0.597000 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 37 57 0 0 1 0 0 BRDT 676 broad.mit.edu 37 1 92442625 92442625 + Missense_Mutation SNP C C A TCGA-MK-A84Z-01A-11D-A397-08 TCGA-MK-A84Z-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba6d50b1-3968-4b7f-a87f-03c977b442c4 3d90d12d-2584-4528-8e66-55b7401b9bdf g.chr1:92442625C>A ENST00000370389.2 + 6 1349 c.425C>A c.(424-426)gCa>gAa p.A142E BRDT_ENST00000402388.1_Missense_Mutation_p.A215E|BRDT_ENST00000362005.3_Missense_Mutation_p.A215E|BRDT_ENST00000394530.3_Missense_Mutation_p.A169E|BRDT_ENST00000399546.2_Missense_Mutation_p.A215E NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 215 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) AAGAGGAAAGCAGATACAACA 0.343000 10 14 4.68919e-08 4.68919e-08 1 1 0 MT-ND5 4540 broad.mit.edu 37 MT 12763 12763 + Missense_Mutation SNP G G A TCGA-MK-A84Z-01A-11D-A397-08 TCGA-MK-A84Z-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba6d50b1-3968-4b7f-a87f-03c977b442c4 3d90d12d-2584-4528-8e66-55b7401b9bdf g.chrM:12763G>A ENST00000361567.2 + 1 427 c.427G>A c.(427-429)Ggc>Agc p.G143S P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 143 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) AACTGTTCATCGGCTGAGAGG 0.418000 14 1 0 0 1 0 0 SLC9A8 23315 broad.mit.edu 37 20 48500445 48500445 + Missense_Mutation SNP C C T TCGA-MK-A84Z-01A-11D-A397-08 TCGA-MK-A84Z-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba6d50b1-3968-4b7f-a87f-03c977b442c4 3d90d12d-2584-4528-8e66-55b7401b9bdf g.chr20:48500445C>T ENST00000417961.1 + 14 1591 c.1381C>T c.(1381-1383)Cgg>Tgg p.R461W SLC9A8_ENST00000361573.2_Missense_Mutation_p.R445W|SLC9A8_ENST00000541138.1_Missense_Mutation_p.R145W|SLC9A8_ENST00000539601.1_Missense_Mutation_p.R226W NM_001260491.1|NM_015266.2 NP_001247420.1|NP_056081.1 Q9Y2E8 SL9A8_HUMAN solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8 445 Golgi membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) CATGGAGAAGCGGCAGCTCAT 0.617000 5 69 0 0 1 0 0 GRIA1 0 broad.mit.edu 37 5 153174277 153174277 + Silent SNP C C T TCGA-MK-A84Z-01A-11D-A397-08 TCGA-MK-A84Z-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba6d50b1-3968-4b7f-a87f-03c977b442c4 3d90d12d-2584-4528-8e66-55b7401b9bdf g.chr5:153174277C>T ENST00000285900.5 + 14 2710 c.2367C>T c.(2365-2367)agC>agT p.S789S GRIA1_ENST00000518783.1_Silent_p.S799S|GRIA1_ENST00000448073.4_Intron|GRIA1_ENST00000518142.1_Silent_p.S709S|GRIA1_ENST00000521843.2_Silent_p.S720S|GRIA1_ENST00000340592.5_Intron NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 789 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AGTGCGGCAGCGGGGGAGGTG 0.463000 16 23 0 0 1 0 0 TAOK3 51347 broad.mit.edu 37 12 118598096 118598096 + Missense_Mutation SNP G G A TCGA-MK-A84Z-01A-11D-A397-08 TCGA-MK-A84Z-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba6d50b1-3968-4b7f-a87f-03c977b442c4 3d90d12d-2584-4528-8e66-55b7401b9bdf g.chr12:118598096G>A ENST00000392533.3 - 19 2697 c.2207C>T c.(2206-2208)gCa>gTa p.A736V TAOK3_ENST00000537952.1_Missense_Mutation_p.A276V|TAOK3_ENST00000419821.2_Missense_Mutation_p.A736V|TAOK3_ENST00000543709.1_5'UTR NM_016281.3 NP_057365.3 Q9H2K8 TAOK3_HUMAN TAO kinase 3 736 MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation mitochondrion|plasma membrane ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity central_nervous_system(1)|lung(5)|skin(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ATTCTTGAGTGCTTTATACTG 0.368000 34 66 0 0 1 0 0 THUMPD3 25917 broad.mit.edu 37 3 9413207 9413207 + Missense_Mutation SNP A A G TCGA-MK-A84Z-01A-11D-A397-08 TCGA-MK-A84Z-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba6d50b1-3968-4b7f-a87f-03c977b442c4 3d90d12d-2584-4528-8e66-55b7401b9bdf g.chr3:9413207A>G ENST00000345094.3 + 4 1128 c.794A>G c.(793-795)aAc>aGc p.N265S THUMPD3_ENST00000452837.2_Missense_Mutation_p.N265S|SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000515662.2_Missense_Mutation_p.N265S NM_001114092.1|NM_015453.2 NP_001107564.1|NP_056268.2 Q9BV44 THUM3_HUMAN THUMP domain containing 3 265 THUMP. methyltransferase activity|protein binding|RNA binding NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 19 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.101) GACATGACCAACTTTGATGTG 0.423000 62 78 0 0 1 0 0 HERC2P2 0 broad.mit.edu 37 15 23300080 23300080 + RNA SNP T T C rs28482434 by1000genomes TCGA-MK-A84Z-01A-11D-A397-08 TCGA-MK-A84Z-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba6d50b1-3968-4b7f-a87f-03c977b442c4 3d90d12d-2584-4528-8e66-55b7401b9bdf g.chr15:23300080T>C ENST00000560464.1 - 0 4207 TGCTGCACGTTGACAGGCGTG 0.612000 5 39 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-MK-A84Z-01A-11D-A397-08 TCGA-MK-A84Z-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba6d50b1-3968-4b7f-a87f-03c977b442c4 3d90d12d-2584-4528-8e66-55b7401b9bdf g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 42 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T T C rs149439944 by1000genomes TCGA-MK-A84Z-01A-11D-A397-08 TCGA-MK-A84Z-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba6d50b1-3968-4b7f-a87f-03c977b442c4 3d90d12d-2584-4528-8e66-55b7401b9bdf g.chr17:39274291T>C ENST00000391413.2 - 1 315 c.277A>G c.(277-279)Atg>Gtg p.M93V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.M93V(4) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACATAGACTGGCAG 0.662000 4 60 0 0 1 0 0 AHRR 57491 broad.mit.edu 37 5 424018 424018 + Missense_Mutation SNP G G C TCGA-MK-A84Z-01A-11D-A397-08 TCGA-MK-A84Z-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba6d50b1-3968-4b7f-a87f-03c977b442c4 3d90d12d-2584-4528-8e66-55b7401b9bdf g.chr5:424018G>C ENST00000316418.5 + 7 690 c.646G>C c.(646-648)Gag>Cag p.E216Q AHRR_ENST00000505113.1_Missense_Mutation_p.E216Q|AHRR_ENST00000506456.1_Missense_Mutation_p.E72Q|AHRR_ENST00000512529.1_Missense_Mutation_p.E62Q NM_020731.4 NP_065782.2 A9YTQ3 AHRR_HUMAN aryl-hydrocarbon receptor repressor 216 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1) 20 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) CACGCCCACCGAGTACTCGGC 0.682000 19 45 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10714146 10714146 + Silent SNP G G A TCGA-MK-A84Z-01A-11D-A397-08 TCGA-MK-A84Z-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba6d50b1-3968-4b7f-a87f-03c977b442c4 3d90d12d-2584-4528-8e66-55b7401b9bdf g.chr1:10714146G>A ENST00000377022.3 - 11 2285 c.1968C>T c.(1966-1968)taC>taT p.Y656Y RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Silent_p.Y656Y NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 656 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) CGCAGCCCTCGTACTTGCACT 0.557000 16 27 0 0 1 0 0 SLC25A15 10166 broad.mit.edu 37 13 41379306 41379306 + Missense_Mutation SNP G G C TCGA-MK-A84Z-01A-11D-A397-08 TCGA-MK-A84Z-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba6d50b1-3968-4b7f-a87f-03c977b442c4 3d90d12d-2584-4528-8e66-55b7401b9bdf g.chr13:41379306G>C ENST00000338625.4 + 4 603 c.367G>C c.(367-369)Gtg>Ctg p.V123L SLC25A15_ENST00000478827.1_3'UTR NM_014252.3 NP_055067.1 Q9Y619 ORNT1_HUMAN solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 123 cellular amino acid metabolic process|mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|stomach(1)|urinary_tract(1) 14 Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704) L-Ornithine(DB00129) TGCTGCACTGGTGCTCTGCCC 0.542000 22 38 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62812686 62812686 + Missense_Mutation SNP C C T TCGA-MK-A84Z-01A-11D-A397-08 TCGA-MK-A84Z-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba6d50b1-3968-4b7f-a87f-03c977b442c4 3d90d12d-2584-4528-8e66-55b7401b9bdf g.chr4:62812686C>T ENST00000512091.1 + 15 3017 c.2270C>T c.(2269-2271)aCg>aTg p.T757M LPHN3_ENST00000511324.1_Missense_Mutation_p.T825M|LPHN3_ENST00000514591.1_Missense_Mutation_p.T757M|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000504896.1_Missense_Mutation_p.T757M|LPHN3_ENST00000509896.1_Missense_Mutation_p.T825M|LPHN3_ENST00000506700.1_Missense_Mutation_p.T757M|LPHN3_ENST00000507164.1_Missense_Mutation_p.T825M|LPHN3_ENST00000506720.1_Missense_Mutation_p.T825M|LPHN3_ENST00000508693.1_Missense_Mutation_p.T825M|LPHN3_ENST00000514996.1_Missense_Mutation_p.T757M|LPHN3_ENST00000507625.1_Missense_Mutation_p.T825M|LPHN3_ENST00000545650.1_Missense_Mutation_p.T757M|LPHN3_ENST00000514157.1_Missense_Mutation_p.T757M|LPHN3_ENST00000508946.1_Missense_Mutation_p.T757M|LPHN3_ENST00000506746.1_Missense_Mutation_p.T825M Q9HAR2 LPHN3_HUMAN latrophilin 3 744 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding p.T757M(2) breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 TATTTATCCACGGAGAATGCC 0.393000 4 160 0 0 1 0 0 ACTL9 284382 broad.mit.edu 37 19 8808501 8808501 + Missense_Mutation SNP G G A TCGA-MK-A84Z-01A-11D-A397-08 TCGA-MK-A84Z-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba6d50b1-3968-4b7f-a87f-03c977b442c4 3d90d12d-2584-4528-8e66-55b7401b9bdf g.chr19:8808501G>A ENST00000324436.3 - 1 671 c.551C>T c.(550-552)tCt>tTt p.S184F NM_178525.3 NP_848620.2 Q8TC94 ACTL9_HUMAN actin-like 9 184 cytoplasm|cytoskeleton NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 GGCGTAGACAGACAGCACCGA 0.662000 18 44 0 0 1 0 0 FMN1 342184 broad.mit.edu 37 15 33261517 33261517 + Silent SNP G G A TCGA-MK-A84Z-01A-11D-A397-08 TCGA-MK-A84Z-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba6d50b1-3968-4b7f-a87f-03c977b442c4 3d90d12d-2584-4528-8e66-55b7401b9bdf g.chr15:33261517G>A ENST00000334528.9 - 4 1715 c.1716C>T c.(1714-1716)tgC>tgT p.C572C FMN1_ENST00000559047.1_Silent_p.C795C|FMN1_ENST00000561249.1_Silent_p.C697C NM_001103184.2 NP_001096654.1 Q68DA7 FMN1_HUMAN formin 1 795 Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity). actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) TCTTTGGAGGGCAGTCATCAT 0.458000 5 335 0 0 1 0 0 HTR1A 3350 broad.mit.edu 37 5 63256897 63256897 + Missense_Mutation SNP C C T TCGA-MK-A84Z-01A-11D-A397-08 TCGA-MK-A84Z-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba6d50b1-3968-4b7f-a87f-03c977b442c4 3d90d12d-2584-4528-8e66-55b7401b9bdf g.chr5:63256897C>T ENST00000323865.3 - 1 883 c.650G>A c.(649-651)cGc>cAc p.R217H RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 217 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TCGGAATATGCGCCCATAGAG 0.587000 4 172 0 0 1 0 0 CPEB4 80315 broad.mit.edu 37 5 173317377 173317377 + Missense_Mutation SNP T T G TCGA-MK-A84Z-01A-11D-A397-08 TCGA-MK-A84Z-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba6d50b1-3968-4b7f-a87f-03c977b442c4 3d90d12d-2584-4528-8e66-55b7401b9bdf g.chr5:173317377T>G ENST00000265085.5 + 1 2095 c.641T>G c.(640-642)gTc>gGc p.V214G CPEB4_ENST00000519835.1_Missense_Mutation_p.V214G|CPEB4_ENST00000334035.5_Missense_Mutation_p.V214G|CPEB4_ENST00000520867.1_Missense_Mutation_p.V214G NM_030627.2 NP_085130.2 Q17RY0 CPEB4_HUMAN cytoplasmic polyadenylation element binding protein 4 214 nucleotide binding|RNA binding NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 20 Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CCCCATCATGTCAGCCCTGGC 0.512000 46 68 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519446 113519446 + Silent SNP G G A TCGA-MK-A84Z-01A-11D-A397-08 TCGA-MK-A84Z-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba6d50b1-3968-4b7f-a87f-03c977b442c4 3d90d12d-2584-4528-8e66-55b7401b9bdf g.chr7:113519446G>A ENST00000284601.3 - 4 1769 c.1701C>T c.(1699-1701)agC>agT p.S567S NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 567 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 CGGTATGTTCGCTCAGCAGAG 0.473000 29 56 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-MK-A84Z-01A-11D-A397-08 TCGA-MK-A84Z-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba6d50b1-3968-4b7f-a87f-03c977b442c4 3d90d12d-2584-4528-8e66-55b7401b9bdf g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 42 0 0 1 0 0 SLC29A1 2030 broad.mit.edu 37 6 44198386 44198386 + Missense_Mutation SNP T T C TCGA-MK-A84Z-01A-11D-A397-08 TCGA-MK-A84Z-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba6d50b1-3968-4b7f-a87f-03c977b442c4 3d90d12d-2584-4528-8e66-55b7401b9bdf g.chr6:44198386T>C ENST00000393841.1 + 8 1162 c.671T>C c.(670-672)cTg>cCg p.L224P SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371708.1_Missense_Mutation_p.L224P|SLC29A1_ENST00000371731.1_Missense_Mutation_p.L224P|SLC29A1_ENST00000427851.2_Missense_Mutation_p.L224P|SLC29A1_ENST00000371724.1_Missense_Mutation_p.L224P|SLC29A1_ENST00000313248.7_Missense_Mutation_p.L303P|SLC29A1_ENST00000371755.3_Missense_Mutation_p.L224P|SLC29A1_ENST00000371740.5_Missense_Mutation_p.L224P|SLC29A1_ENST00000371713.1_Missense_Mutation_p.L224P|SLC29A1_ENST00000393844.1_Missense_Mutation_p.L224P NM_001078177.1 NP_001071645.1 Q99808 S29A1_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 1 224 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction nucleoside transmembrane transporter activity|protein binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 17 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) Troglitazone(DB00197) ATCTGTTACCTGGGCCTGCCC 0.547000 14 36 0 0 1 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325064 150325064 + Missense_Mutation SNP G G T TCGA-MK-A84Z-01A-11D-A397-08 TCGA-MK-A84Z-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba6d50b1-3968-4b7f-a87f-03c977b442c4 3d90d12d-2584-4528-8e66-55b7401b9bdf g.chr7:150325064G>T ENST00000328902.5 - 3 838 c.622C>A c.(622-624)Cag>Aag p.Q208K GIMAP6_ENST00000493969.1_3'UTR NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 208 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGGGCCTCCTGCTCCTCCCCC 0.537000 77 100 5.04879e-28 5.21165e-28 1 1 0 C6orf70 0 broad.mit.edu 37 6 170159117 170159117 + Silent SNP C C T TCGA-MK-A84Z-01A-11D-A397-08 TCGA-MK-A84Z-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba6d50b1-3968-4b7f-a87f-03c977b442c4 3d90d12d-2584-4528-8e66-55b7401b9bdf g.chr6:170159117C>T ENST00000588451.1 + 6 696 c.183C>T c.(181-183)aaC>aaT p.N61N C6orf70_ENST00000392095.4_Silent_p.N61N|C6orf70_ENST00000418781.3_Silent_p.N187N|C6orf70_ENST00000366772.2_Silent_p.N187N|C6orf70_ENST00000366773.3_Silent_p.N187N Q5T6L9 CF070_HUMAN 187 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1) 20 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191) ACCTGCGTAACGTCTTATGGC 0.378000 36 67 0 0 1 0 0 BAI1 575 broad.mit.edu 37 8 143623463 143623463 + Missense_Mutation SNP G G A TCGA-MK-A84Z-01A-11D-A397-08 TCGA-MK-A84Z-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba6d50b1-3968-4b7f-a87f-03c977b442c4 3d90d12d-2584-4528-8e66-55b7401b9bdf g.chr8:143623463G>A ENST00000517894.1 + 28 4762 c.3868G>A c.(3868-3870)Ggc>Agc p.G1290S BAI1_ENST00000323289.5_Missense_Mutation_p.G1290S O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1290 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GCACCTGCACGGCTCACCCCG 0.662000 14 21 0 0 1 0 0 KLF4 9314 broad.mit.edu 37 9 110249320 110249320 + Missense_Mutation SNP C C A TCGA-MK-A84Z-01A-11D-A397-08 TCGA-MK-A84Z-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba6d50b1-3968-4b7f-a87f-03c977b442c4 3d90d12d-2584-4528-8e66-55b7401b9bdf g.chr9:110249320C>A ENST00000374672.4 - 4 1726 c.1253G>T c.(1252-1254)cGa>cTa p.R418L NM_004235.4 NP_004226.3 O43474 KLF4_HUMAN Kruppel-like factor 4 (gut) 452 fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter nucleus RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2) 16 TGTGTGGGTTCGCAGGTGTGC 0.587000 66 92 1.05635e-38 1.12677e-38 1 1 0 RP11-544M22.1 0 broad.mit.edu 37 1 160905975 160905975 + RNA DEL T T - TCGA-MK-A84Z-01A-11D-A397-08 TCGA-MK-A84Z-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba6d50b1-3968-4b7f-a87f-03c977b442c4 3d90d12d-2584-4528-8e66-55b7401b9bdf g.chr1:160905975delT ENST00000356006.3 + 0 629 cttcttcttcttttttttttt 0.393 4 3 --- --- --- --- RP11-739N20.2 0 broad.mit.edu 37 1 204363980 204363980 + RNA DEL A A - TCGA-MK-A84Z-01A-11D-A397-08 TCGA-MK-A84Z-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba6d50b1-3968-4b7f-a87f-03c977b442c4 3d90d12d-2584-4528-8e66-55b7401b9bdf g.chr1:204363980delA ENST00000443515.1 + 0 146 tttgtttttcaaaaaaaaaaa 0.308 3 3 --- --- --- --- AC226119.5 0 broad.mit.edu 37 4 3957083 3957083 + RNA DEL C C - TCGA-MK-A84Z-01A-11D-A397-08 TCGA-MK-A84Z-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba6d50b1-3968-4b7f-a87f-03c977b442c4 3d90d12d-2584-4528-8e66-55b7401b9bdf g.chr4:3957083delC ENST00000281228.8 - 0 65 FAM86EP_ENST00000313946.8_RNA GAGCGCGCCGCCAGGAAGCGG 0.736 2 4 --- --- --- --- TEAD1 7003 broad.mit.edu 37 11 12923583 12923583 + Frame_Shift_Del DEL T T - TCGA-MK-A84Z-01A-11D-A397-08 TCGA-MK-A84Z-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba6d50b1-3968-4b7f-a87f-03c977b442c4 3d90d12d-2584-4528-8e66-55b7401b9bdf g.chr11:12923583delT ENST00000361905.4 + 10 1416 c.751delT c.(751-753)ttfs p.F251fs TEAD1_ENST00000334310.6_Intron|TEAD1_ENST00000361985.2_Frame_Shift_Del_p.F266fs|TEAD1_ENST00000526600.1_Frame_Shift_Del_p.F170fs|TEAD1_ENST00000527575.1_Intron|TEAD1_ENST00000527636.1_Frame_Shift_Del_p.F266fs NM_021961.5 NP_068780.2 P28347 TEAD1_HUMAN TEA domain family member 1 (SV40 transcriptional enhancer factor) 266 Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9) 17 Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236) TTATGACAAATTTCCTGAAAA 0.423 16 183 --- --- --- --- RPS6KA4 8986 broad.mit.edu 37 11 64135606 64135606 + Frame_Shift_Del DEL A A - TCGA-MK-A84Z-01A-11D-A397-08 TCGA-MK-A84Z-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba6d50b1-3968-4b7f-a87f-03c977b442c4 3d90d12d-2584-4528-8e66-55b7401b9bdf g.chr11:64135606delA ENST00000528057.1 + 10 1162 c.1074delA c.(1072-1074)ggfs p.G358fs RPS6KA4_ENST00000334205.4_Frame_Shift_Del_p.G358fs|RPS6KA4_ENST00000294261.4_Frame_Shift_Del_p.G358fs NM_001006944.1 NP_001006945.1 O75676 KS6A4_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 4 358 AGC-kinase C-terminal. axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1) 13 CCCTGCAGGGATACTCCTTTG 0.642 11 36 --- --- --- --- POLE 5426 broad.mit.edu 37 12 133220099 133220100 + Frame_Shift_Del DEL CA CA - TCGA-MK-A84Z-01A-11D-A397-08 TCGA-MK-A84Z-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba6d50b1-3968-4b7f-a87f-03c977b442c4 3d90d12d-2584-4528-8e66-55b7401b9bdf g.chr12:133220099_133220100delCA ENST00000320574.5 - 34 4380_4381 c.4337_4338delTG c.(4336-4338)gfs p.V1447fs POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1447 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GTTTATTGACCACACACACACA 0.604 DNA polymerases (catalytic subunits) 7 262 --- --- --- --- RAP1GAP2 23108 broad.mit.edu 37 17 2929686 2929688 + In_Frame_Del DEL CTC CTC - TCGA-MK-A84Z-01A-11D-A397-08 TCGA-MK-A84Z-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba6d50b1-3968-4b7f-a87f-03c977b442c4 3d90d12d-2584-4528-8e66-55b7401b9bdf g.chr17:2929686_2929688delCTC ENST00000254695.8 + 21 1998_2000 c.1908_1910delCTC c.(1906-1911)cgc>cg p.RS636del RAP1GAP2_ENST00000540393.2_In_Frame_Del_p.RS617del|RAP1GAP2_ENST00000542807.1_In_Frame_Del_p.RS636del|RAP1GAP2_ENST00000366401.4_In_Frame_Del_p.RS621del NM_015085.4 NP_055900.4 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 636 Ser-rich. regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 CCATCTCCCGCTCCTCCTCCAGC 0.665 2 4 --- --- --- --- DGKK 139189 broad.mit.edu 37 X 50165595 50165596 + RNA INS - - AC rs59226442 TCGA-MK-A84Z-01A-11D-A397-08 TCGA-MK-A84Z-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba6d50b1-3968-4b7f-a87f-03c977b442c4 3d90d12d-2584-4528-8e66-55b7401b9bdf g.chrX:50165595_50165596insAC ENST00000376025.2 - 0 816 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) TTAAAAGGTAAacacacacaca 0.411 3 5 --- --- --- ---