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 ABHD8 79575 broad.mit.edu 37 19 17412054 17412054 + Silent SNP C C T TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr19:17412054C>T ENST00000247706.3 - 2 611 c.372G>A c.(370-372)ccG>ccA p.P124P MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron NM_024527.4 NP_078803.4 Q96I13 ABHD8_HUMAN abhydrolase domain containing 8 124 hydrolase activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 9 CGCTGCCCGCCGGATCTGCCA 0.746000 3 29 0 0 1 0 0 CARM1 10498 broad.mit.edu 37 19 11022906 11022906 + Missense_Mutation SNP C C T TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr19:11022906C>T ENST00000327064.4 + 5 795 c.605C>T c.(604-606)gCc>gTc p.A202V CARM1_ENST00000344150.4_Missense_Mutation_p.A202V NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 202 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding p.A202V(2) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 TCGTTTTTTGCCGCCCAAGCT 0.622000 6 348 0 0 1 0 0 KIF21A 55605 broad.mit.edu 37 12 39735383 39735383 + Silent SNP C C T TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr12:39735383C>T ENST00000395670.3 - 14 2264 c.1845G>A c.(1843-1845)gaG>gaA p.E615E KIF21A_ENST00000544797.2_Silent_p.E602E|KIF21A_ENST00000361418.5_Silent_p.E615E|KIF21A_ENST00000361961.3_Silent_p.E602E|KIF21A_ENST00000541463.2_Silent_p.E602E Q7Z4S6 KI21A_HUMAN kinesin family member 21A 615 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.E602D(1)|p.E602E(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) cctcctcctcctcttcttcat 0.398000 3 55 0 0 1 0 0 DTX4 23220 broad.mit.edu 37 11 58959666 58959666 + Silent SNP A A G TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr11:58959666A>G ENST00000227451.3 + 6 1421 c.1317A>G c.(1315-1317)agA>agG p.R439R DTX4_ENST00000531902.1_3'UTR|DTX4_ENST00000532982.1_Silent_p.R333R NM_015177.1 NP_055992.1 Q9Y2E6 DTX4_HUMAN deltex homolog 4 (Drosophila) 439 Notch signaling pathway cytoplasm zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 20 all_epithelial(135;0.125) AGCTGTCCAGATGCGGCCACG 0.592000 23 120 0 0 1 0 0 ARNT2 9915 broad.mit.edu 37 15 80767549 80767549 + Missense_Mutation SNP G G A TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr15:80767549G>A ENST00000533983.1 + 6 913 c.574G>A c.(574-576)Gaa>Aaa p.E192K ARNT2_ENST00000303329.4_Missense_Mutation_p.E203K|ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000527771.1_Missense_Mutation_p.E192K Q9HBZ2 ARNT2_HUMAN aryl-hydrocarbon receptor nuclear translocator 2 203 PAS 1. central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) GTGCACCTCAGAAAACTCAAT 0.507000 18 71 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142717979 142717979 + Missense_Mutation SNP C C A rs142699085 byFrequency TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chrX:142717979C>A ENST00000381779.4 - 2 1171 c.946G>T c.(946-948)Gtt>Ttt p.V316F SLITRK4_ENST00000356928.1_Missense_Mutation_p.V316F|SLITRK4_ENST00000338017.4_Missense_Mutation_p.V316F NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 316 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) TTGCCTGCAACGATTCCAGAG 0.473000 27 121 2.79863e-10 2.96326e-10 1 1 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E 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 4 82 0 0 1 0 0 RNF8 9025 broad.mit.edu 37 6 37328329 37328329 + Silent SNP A A G TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr6:37328329A>G ENST00000373479.4 + 2 412 c.219A>G c.(217-219)caA>caG p.Q73Q RNF8_ENST00000394443.4_Silent_p.Q73Q|RNF8_ENST00000469731.1_Silent_p.Q73Q|RNF8_ENST00000479516.1_3'UTR NM_003958.3|NM_183078.2 NP_003949.1|NP_898901.1 O76064 RNF8_HUMAN ring finger protein 8, E3 ubiquitin protein ligase 73 FHA. cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation midbody|nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 13 CTGAGGGCCAATGGACAATTA 0.368000 14 64 0 0 1 0 0 ADAM11 4185 broad.mit.edu 37 17 42854139 42854139 + Silent SNP C C T TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr17:42854139C>T ENST00000200557.6 + 19 1762 c.1593C>T c.(1591-1593)gaC>gaT p.D531D ADAM11_ENST00000535346.1_Silent_p.D331D NM_002390.4 NP_002381.2 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 531 Disintegrin. integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Prostate(33;0.0959) ACAAGCTGGACGGTTACTACT 0.607000 31 53 0 0 1 0 0 IGLV2-28 28812 broad.mit.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr22:23006961C>T ENST00000385099.1 + 0 64 GGCTCTGCTCCTCCTCACCCT 0.627000 3 7 0 0 1 0 0 TEP1 7011 broad.mit.edu 37 14 20837625 20837625 + Missense_Mutation SNP G G A TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr14:20837625G>A ENST00000262715.5 - 53 7574 c.7534C>T c.(7534-7536)Cca>Tca p.P2512S TEP1_ENST00000556935.1_Missense_Mutation_p.P2404S NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 2512 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) TGGGTTTCTGGAGTGTTTGCT 0.507000 4 102 0 0 1 0 0 FGFR2 2263 broad.mit.edu 37 10 123245036 123245036 + Missense_Mutation SNP C C T TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr10:123245036C>T ENST00000358487.5 - 16 2340 c.2068G>A c.(2068-2070)Ggg>Agg p.G690R FGFR2_ENST00000346997.2_Missense_Mutation_p.G688R|FGFR2_ENST00000357555.5_Missense_Mutation_p.G601R|FGFR2_ENST00000369061.4_Missense_Mutation_p.G578R|FGFR2_ENST00000351936.6_Missense_Mutation_p.G688R|FGFR2_ENST00000369056.1_Missense_Mutation_p.G691R|FGFR2_ENST00000360144.3_Missense_Mutation_p.G602R|FGFR2_ENST00000356226.4_Missense_Mutation_p.G573R|FGFR2_ENST00000369060.4_Missense_Mutation_p.G574R|FGFR2_ENST00000369059.1_Missense_Mutation_p.G576R|FGFR2_ENST00000457416.2_Missense_Mutation_p.G691R|FGFR2_ENST00000478859.1_Missense_Mutation_p.G462R NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 690 Protein kinase. angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) ATTAACACCCCGAAGGACCAG 0.512000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 8 55 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139908666 139908666 + Silent SNP T T G TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr5:139908666T>G ENST00000297183.6 + 29 6259 c.6135T>G c.(6133-6135)tcT>tcG p.S2045S ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.S2045S|ANKHD1_ENST00000544120.1_Silent_p.S428S|ANKHD1_ENST00000360839.2_Silent_p.S2045S NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTACCCCATCTTCAACTGCAA 0.512000 19 32 0 0 1 0 0 KCMF1 56888 broad.mit.edu 37 2 85276609 85276609 + Missense_Mutation SNP C C T TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr2:85276609C>T ENST00000409785.3 + 6 1081 c.722C>T c.(721-723)gCc>gTc p.A241V NM_020122.4 NP_064507.3 Q9P0J7 KCMF1_HUMAN potassium channel modulatory factor 1 241 intracellular ligase activity|zinc ion binding ovary(3) 3 CGGCAGCATGCCCAGGCAGCA 0.552000 5 60 0 0 1 0 0 OR2L2 26246 broad.mit.edu 37 1 248202163 248202163 + Silent SNP G G A TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr1:248202163G>A ENST00000366479.2 + 1 690 c.594G>A c.(592-594)gtG>gtA p.V198V OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 198 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) AGAGCACAGTGTTTTTGAGCA 0.478000 4 131 0 0 1 0 0 ABCC4 10257 broad.mit.edu 37 13 95818472 95818472 + Silent SNP C C T TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr13:95818472C>T ENST00000376887.4 - 15 2088 c.1974G>A c.(1972-1974)tcG>tcA p.S658S ABCC4_ENST00000536256.1_Silent_p.S583S|ABCC4_ENST00000431522.1_Silent_p.S658S|ABCC4_ENST00000412704.1_Silent_p.S658S NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 658 platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) GAGACCAAACCGAAGACTCTG 0.453000 11 133 0 0 1 0 0 PQBP1 10084 broad.mit.edu 37 X 48759214 48759214 + Missense_Mutation SNP C C A TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chrX:48759214C>A ENST00000218224.4 + 3 441 c.187C>A c.(187-189)Cct>Act p.P63T PQBP1_ENST00000396763.1_Missense_Mutation_p.P63T|PQBP1_ENST00000247140.4_Missense_Mutation_p.P63T|PQBP1_ENST00000447146.2_Missense_Mutation_p.P63T|PQBP1_ENST00000376566.4_Missense_Mutation_p.P63T|PQBP1_ENST00000376563.1_Missense_Mutation_p.P63T|PQBP1_ENST00000473764.1_3'UTR NM_005710.2 NP_005701.1 O60828 PQBP1_HUMAN polyglutamine binding protein 1 63 WW. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|transcription coactivator activity breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2) 11 CAGCGGGCTCCCTTACTACTG 0.547000 5 82 1.23904e-05 1.27444e-05 1 1 0 CNTNAP3B 728577 broad.mit.edu 37 9 43915893 43915893 + Missense_Mutation SNP G G C rs143747399 by1000genomes TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr9:43915893G>C ENST00000377564.3 + 23 4134 c.3741G>C c.(3739-3741)atG>atC p.M1247I NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 1247 cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 CTGCTGTCATGGGAGGTAACA 0.433000 3 49 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53570843 53570843 + Missense_Mutation SNP G G A TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chrX:53570843G>A ENST00000342160.3 - 72 11795 c.11338C>T c.(11338-11340)Cgt>Tgt p.R3780C HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Missense_Mutation_p.R3780C Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 3780 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity p.R3670C(1)|p.R3780C(1) NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 TGACCCTCACGTACCATTTGT 0.557000 19 21 0 0 1 0 0 IGLV2-28 28812 broad.mit.edu 37 22 23006960 23006960 + RNA SNP C C A TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr22:23006960C>A ENST00000385099.1 + 0 63 GGGCTCTGCTCCTCCTCACCC 0.627000 3 7 0.004672 0.004672 1 1 0 ATRX 546 broad.mit.edu 37 X 76931778 76931778 + Missense_Mutation SNP G G C TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chrX:76931778G>C ENST00000373344.5 - 10 3966 c.3752C>G c.(3751-3753)tCt>tGt p.S1251C ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S1213C NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1251 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) CACTGATTTAGATAAGGCTTC 0.323000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 4 213 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24884876 24884876 + Silent SNP C C T TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr14:24884876C>T ENST00000382554.3 + 9 4239 c.3921C>T c.(3919-3921)ttC>ttT p.F1307F NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1307 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 TGTCCACGTTCGTCTGCATCC 0.622000 4 211 0 0 1 0 0 KCNMA1 3778 broad.mit.edu 37 10 78943220 78943220 + Missense_Mutation SNP G G A TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr10:78943220G>A ENST00000286627.5 - 5 1719 c.767C>T c.(766-768)cCc>cTc p.P256L KCNMA1_ENST00000286628.8_Missense_Mutation_p.P256L|KCNMA1_ENST00000354353.5_Missense_Mutation_p.P256L|KCNMA1_ENST00000404857.1_Missense_Mutation_p.P256L|KCNMA1_ENST00000372440.1_Missense_Mutation_p.P256L|KCNMA1_ENST00000372443.1_Missense_Mutation_p.P256L|KCNMA1_ENST00000404771.3_Missense_Mutation_p.P256L|KCNMA1_ENST00000406533.3_Missense_Mutation_p.P256L NM_002247.3 NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 256 cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) AAACACGGGGGGCACCGTGAA 0.458000 3 56 0 0 1 0 0 GPR128 84873 broad.mit.edu 37 3 100413790 100413790 + Missense_Mutation SNP C C G TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr3:100413790C>G ENST00000273352.3 + 16 2607 c.2339C>G c.(2338-2340)cCg>cGg p.P780R GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.P485R NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 780 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.P780L(1) NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 GAAACCTCTCCGAGTACTGAG 0.443000 11 64 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75799877 75799877 + Missense_Mutation SNP G G A TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr6:75799877G>A ENST00000322507.8 - 63 9199 c.8890C>T c.(8890-8892)Cgg>Tgg p.R2964W COL12A1_ENST00000416123.2_Missense_Mutation_p.R2888W|COL12A1_ENST00000511023.1_5'UTR|COL12A1_ENST00000345356.6_Missense_Mutation_p.R1800W|COL12A1_ENST00000483888.2_Missense_Mutation_p.R2960W NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2964 Triple-helical region (COL1) with 2 imperfections. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 AAGCCTGGCCGCCCCCCAGGC 0.617000 8 168 0 0 1 0 0 AADACL4 343066 broad.mit.edu 37 1 12726517 12726517 + Missense_Mutation SNP T T A TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr1:12726517T>A ENST00000376221.1 + 4 995 c.995T>A c.(994-996)gTc>gAc p.V332D NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 332 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) GATGATGAGGTCATCGCTCAG 0.507000 32 116 0 0 1 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 53 0 0 1 0 0 SDHAP3 728609 broad.mit.edu 37 5 1593264 1593264 + RNA SNP C C T rs111700178 by1000genomes TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr5:1593264C>T ENST00000436493.2 - 0 361 AGGGCACATGCCTGACCAAAG 0.557000 4 38 0 0 1 0 0 CCDC96 257236 broad.mit.edu 37 4 7044507 7044509 + In_Frame_Del DEL CTC CTC - TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr4:7044507_7044509delCTC ENST00000310085.4 - 1 219_221 c.157_159delGAG c.(157-159)del p.E53del RP11-367J11.2_ENST00000500031.1_RNA NM_153376.2 NP_699207.1 Q2M329 CCD96_HUMAN coiled-coil domain containing 96 53 Glu-rich. endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1) 11 AAGCCGCTTGCTCCTCCTCCTCC 0.729 2 4 --- --- --- --- RRN3P2 653390 broad.mit.edu 37 16 29110406 29110406 + RNA DEL T T - TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4315499d-34e8-46ac-a2b1-16f433fd25ea d36d3888-4c19-4c74-81b0-11f19e52550c g.chr16:29110406delT ENST00000564580.1 + 0 1098 TTAAAAAATCTTTTTTTTTTT 0.299 7 47 --- --- --- ---