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 SPICE1 152185 broad.mit.edu 37 3 113207801 113207801 + Missense_Mutation SNP T T C TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr3:113207801T>C uc003eag.4 - 6 893 c.602A>G c.(601-603)aAt>aGt p.N201S SPICE1_uc003eaf.4_Non-coding_Transcript|SPICE1_uc003eah.1_Missense_Mutation_p.N97S NM_144718 NP_653319 Q8N0Z3 SPICE_HUMAN Homo sapiens spindle and centriole associated protein 1 (SPICE1), mRNA. 201 cell division|mitosis centriole|spindle protein binding NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1) 33 CCTGTCTGTATTCGTGTTAGA 0.358000 3 153 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2807800 2807800 + Missense_Mutation SNP G G T TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr16:2807800G>T uc002crk.3 + 3 918 c.369G>T c.(367-369)caG>caT p.Q123H SRRM2_uc002crj.1_Missense_Mutation_p.Q27H|SRRM2_uc002crl.1_Missense_Mutation_p.Q123H|SRRM2_uc010bsu.1_Missense_Mutation_p.Q27H NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA. 123 Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 AGACTCACCAgttggcagaat 0.443000 42 97 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23524563 23524563 + Nonsense_Mutation SNP T T A TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr5:23524563T>A uc003jgo.3 + 9 1253 c.1071T>A c.(1069-1071)taT>taA p.Y357* NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN Homo sapiens PR domain containing 9 (PRDM9), mRNA. 357 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 TGGTCTGGTATGGGGATGAAT 0.507000 HNSCC(3;0.000094) 10 128 0 0 1 0 0 DCUN1D4 23142 broad.mit.edu 37 4 52777312 52777312 + Missense_Mutation SNP T T C TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr4:52777312T>C uc011bzo.2 + 8 831 c.824T>C c.(823-825)cTt>cCt p.L275P DCUN1D4_uc003gze.3_Missense_Mutation_p.L231P|DCUN1D4_uc003gzf.3_Intron|DCUN1D4_uc011bzn.2_Missense_Mutation_p.L171P|DCUN1D4_uc003gzg.3_Non-coding_Transcript|DCUN1D4_uc003gzh.3_Intron NM_001040402 NP_001035492 Q92564 DCNL4_HUMAN Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae) (DCUN1D4), transcript variant 1, mRNA. 231 DCUN1. endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1) 9 GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654) ATCTGGCCCCTTTTTCCAGTT 0.383000 3 156 0 0 1 0 0 OR10K1 391109 broad.mit.edu 37 1 158436162 158436162 + Missense_Mutation SNP G G A TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr1:158436162G>A uc010pij.2 + 0 811 c.811G>A c.(811-813)Gac>Aac p.D271N NM_001004473 NP_001004473 Q8NGX5 O10K1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA. 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) TTCAAGCCAAGACACCCTAAT 0.418000 4 137 0 0 1 0 0 BTBD7 55727 broad.mit.edu 37 14 93717850 93717850 + Missense_Mutation SNP T T C TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr14:93717850T>C uc001ybo.3 - 7 2227 c.1901A>G c.(1900-1902)aAc>aGc p.N634S BTBD7_uc010aur.3_Missense_Mutation_p.N159S|BTBD7_uc010two.2_Missense_Mutation_p.N454S|BTBD7_uc001ybp.3_Missense_Mutation_p.N283S NM_001002860 NP_001002860 Q9P203 BTBD7_HUMAN Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA. 634 breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) GCTTGACTGGTTGCTGCTGAT 0.418000 40 239 0 0 1 0 0 DNAH6 1768 broad.mit.edu 37 2 84811124 84811124 + Splice_Site SNP T T A TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr2:84811124T>A uc010fgb.3 + 15 2367 c.2230_splice c.e15-1 p.I744_splice DNAH6_uc002soo.3_Splice_Site_p.I323_splice|DNAH6_uc002sop.3_Splice_Site_p.I323_splice NM_001370 NP_001361 Q9C0G6 DYH6_HUMAN Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA. 744 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 57 TCCATTTAGATTGAAAGCCTT 0.373000 18 71 0 0 1 0 0 SPR 6697 broad.mit.edu 37 2 73115548 73115548 + Missense_Mutation SNP G G A TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr2:73115548G>A uc002sik.2 + 1 460 c.410G>A c.(409-411)aGc>aAc p.S137N NM_003124 NP_003115 P35270 SPRE_HUMAN Homo sapiens sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) (SPR), mRNA. 137 nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process cytoplasm NADP binding|aldo-keto reductase (NADP) activity|sepiapterin reductase activity lung(4)|ovary(2) 6 CTGACTTCCAGCGTCCTGAAG 0.562000 OREG0014704 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 102 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 70964879 70964879 + Missense_Mutation SNP C C T TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr6:70964879C>T uc003pfg.4 - 22 1744 c.1585G>A c.(1585-1587)Ggt>Agt p.G529S COL9A1_uc003pfe.4_Missense_Mutation_p.G102S|COL9A1_uc003pff.4_Missense_Mutation_p.G286S NM_001851 NP_001842 P20849 CO9A1_HUMAN Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA. 529 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 CCAGGGAGACCAGGAATTCCT 0.423000 33 218 0 0 1 0 0 MYBPC2 4606 broad.mit.edu 37 19 50940753 50940753 + Nonsense_Mutation SNP C C T TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr19:50940753C>T uc002psf.2 + 5 538 c.487C>T c.(487-489)Cag>Tag p.Q163* NM_004533 NP_004524 Q14324 MYPC2_HUMAN Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA. 163 cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) TGCCTCTGGGCAGAGTCTAGA 0.587000 5 11 0 0 1 0 0 MAGEB18 286514 broad.mit.edu 37 X 26157885 26157885 + Missense_Mutation SNP C C A TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chrX:26157885C>A uc004dbq.2 + 1 970 c.783C>A c.(781-783)aaC>aaA p.N261K MAGEB18_uc022bub.1_Missense_Mutation_p.N261K NM_173699 NP_775970 Q96M61 MAGBI_HUMAN Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA. 261 MAGE. protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 AAGTGCCCAACAGTGATCCTC 0.488000 3 44 0 0 1 0 0 HSP90B1 7184 broad.mit.edu 37 12 104336889 104336889 + Missense_Mutation SNP A A G TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr12:104336889A>G uc001tkb.1 + 12 1787 c.1682A>G c.(1681-1683)aAg>aGg p.K561R HSP90B1_uc010swg.1_Missense_Mutation_p.K226R|HSP90B1_uc009zui.1_Intron NM_003299 NP_003290 P14625 ENPL_HUMAN Homo sapiens heat shock protein 90kDa beta (Grp94), member 1 (HSP90B1), mRNA. 561 ER-associated protein catabolic process|actin rod assembly|anti-apoptosis|cellular response to ATP|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm ATP binding|RNA binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|unfolded protein binding|virion binding central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4) 29 Rifabutin(DB00615) CTTCTGAAAAAGGGCTATGAA 0.418000 4 223 0 0 1 0 0 ECE1 1889 broad.mit.edu 37 1 21573852 21573852 + Missense_Mutation SNP A A G TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr1:21573852A>G uc001bek.2 - 8 1100 c.1025T>C c.(1024-1026)tTg>tCg p.L342S ECE1_uc001bem.2_Missense_Mutation_p.L326S|ECE1_uc001bej.2_Missense_Mutation_p.L330S|ECE1_uc001bei.2_Missense_Mutation_p.L339S|ECE1_uc010odl.1_Missense_Mutation_p.L342S|ECE1_uc009vqa.1_Missense_Mutation_p.L342S NM_001397 NP_001388 P42892 ECE1_HUMAN Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA. 342 bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane metal ion binding|metalloendopeptidase activity|protein homodimerization activity endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) GGCGGGTGCCAAGGTCTGCAA 0.532000 3 96 0 0 1 0 0 ZNF267 10308 broad.mit.edu 37 16 31925925 31925925 + Missense_Mutation SNP A A G TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr16:31925925A>G uc002ecs.4 + 3 564 c.355A>G c.(355-357)Agg>Ggg p.R119G NM_003414 NP_003405 Q14586 ZN267_HUMAN Homo sapiens zinc finger protein 267 (ZNF267), transcript variant 498723, mRNA. 119 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 41 AAGGTGGAAAAGGGAGGAGTG 0.378000 3 142 0 0 1 0 0 ZBTB24 9841 broad.mit.edu 37 6 109802299 109802299 + Missense_Mutation SNP T T C rs141429160 TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr6:109802299T>C uc003ptl.1 - 1 1099 c.931A>G c.(931-933)Atc>Gtc p.I311V ZBTB24_uc011ear.1_Non-coding_Transcript|ZBTB24_uc010kds.1_Missense_Mutation_p.I311V|ZBTB24_uc010kdt.1_Non-coding_Transcript|ZBTB24_uc003ptm.3_Missense_Mutation_p.I311V NM_014797 NP_055612 O43167 ZBT24_HUMAN Homo sapiens zinc finger and BTB domain containing 24 (ZBTB24), transcript variant 1, mRNA. 311 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) CTCTGGTGGATTGCTAAAAAG 0.458000 7 268 0 0 1 0 0 MEPCE 56257 broad.mit.edu 37 7 100028454 100028454 + Missense_Mutation SNP G G C TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr7:100028454G>C uc003uuw.3 + 0 1201 c.813G>C c.(811-813)caG>caC p.Q271H ZCWPW1_uc003uut.3_5'Flank|ZCWPW1_uc011kjr.2_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc022ain.1_Intron|MEPCE_uc022aio.1_Intron|MEPCE_uc003uuv.3_5'UTR NM_019606 NP_062552 Q7L2J0 MEPCE_HUMAN Homo sapiens methylphosphate capping enzyme (MEPCE), transcript variant 1, mRNA. 271 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AGCACCACCAGCAGCAGCAGG 0.647000 5 289 0 0 1 0 0 BAP1 8314 broad.mit.edu 37 3 52443600 52443600 + Missense_Mutation SNP T T C TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr3:52443600T>C uc003ddx.3 - 2 207 c.92A>G c.(91-93)gAg>gGg p.E31G PHF7_uc003ddy.3_5'Flank|PHF7_uc003ddz.3_5'Flank NM_004656 NP_004647 Q92560 BAP1_HUMAN Homo sapiens BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) (BAP1), mRNA. 31 monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process PR-DUB complex|cytoplasm|nucleolus chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.E31A(2) NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2) 180 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) GTCGTAGATCTCCTCCACTTG 0.617000 """N, Mis, F, S, O""" """uveal melanoma, breast, NSCLC, RCC""" """mesothelioma, uveal melanoma""" 9 493 0 0 1 0 0 OR51M1 390059 broad.mit.edu 37 11 5410737 5410737 + Missense_Mutation SNP C C T TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr11:5410737C>T uc010qzc.2 + 0 131 c.109C>T c.(109-111)Cac>Tac p.H37Y HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA. 37 integral to membrane olfactory receptor activity NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGCATCAAACACTGGATTTT 0.423000 10 144 0 0 1 0 0 OR10H2 26538 broad.mit.edu 37 19 15839268 15839268 + Missense_Mutation SNP C C T TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr19:15839268C>T uc002nbm.2 + 0 435 c.415C>T c.(415-417)Cgg>Tgg p.R139W NM_013939 NP_039227 O60403 O10H2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA. 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R139W(2) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1) 27 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) CATGAGCCCACGGGGCTGCGC 0.637000 4 89 0 0 1 0 0 SFMBT2 57713 broad.mit.edu 37 10 7412244 7412244 + Splice_Site SNP T T C TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr10:7412244T>C uc009xio.2 - 3 286 c.195_splice c.e3+1 p.H65_splice SFMBT2_uc001ijn.2_Splice_Site_p.H65_splice|SFMBT2_uc010qay.2_Splice_Site_p.H65_splice|SFMBT2_uc001ijo.2_Splice_Site_p.H65_splice NM_001018039 NP_001018049 Q5VUG0 SMBT2_HUMAN Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA. 65 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 TTTACATACGTGTTTGAATGA 0.473000 3 108 0 0 1 0 0 LOC646214 646214 broad.mit.edu 37 15 21936443 21936443 + RNA SNP C C T TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr15:21936443C>T uc010tzj.1 - 0 c.4297G>A Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA. TCATTTGCTTCTTTCATTCAG 0.318000 5 19 0 0 1 0 0 GRIA4 2893 broad.mit.edu 37 11 105795388 105795388 + Silent SNP C C T TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr11:105795388C>T uc001pix.2 + 11 2186 c.1740C>T c.(1738-1740)gaC>gaT p.D580D GRIA4_uc001piw.2_Silent_p.D580D NM_000829 NP_000820 P48058 GRIA4_HUMAN Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA. 580 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) AGCCAGAGGACGGAAAGGAAG 0.473000 9 53 0 0 1 0 0 ZBTB24 9841 broad.mit.edu 37 6 109787521 109787521 + Missense_Mutation SNP G G C TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr6:109787521G>C uc003ptl.1 - 6 1795 c.1627C>G c.(1627-1629)Caa>Gaa p.Q543E MICAL1_uc011eaq.2_5'Flank|ZBTB24_uc011ear.1_Non-coding_Transcript|ZBTB24_uc010kds.1_Missense_Mutation_p.Q487E|ZBTB24_uc010kdt.1_Non-coding_Transcript NM_014797 NP_055612 O43167 ZBT24_HUMAN Homo sapiens zinc finger and BTB domain containing 24 (ZBTB24), transcript variant 1, mRNA. 543 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) GTAGAGAGTTGATATGGCTGT 0.448000 5 177 0 0 1 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20621386 20621386 + Missense_Mutation SNP G G T TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr20:20621386G>T uc002wrz.3 - 5 652 c.509C>A c.(508-510)aCa>aAa p.T170K RALGAPA2_uc010zsg.2_5'UTR NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA. 170 activation of Ral GTPase activity cytosol|nucleus Ral GTPase activator activity|protein heterodimerization activity p.T170T(1) endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 TGTCTCCAGTGTGCAAGGGCC 0.468000 3 116 0 0 1 0 0 CDK12 51755 broad.mit.edu 37 17 37682293 37682293 + Missense_Mutation SNP G G A TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr17:37682293G>A uc010cvv.3 + 12 4070 c.3484G>A c.(3484-3486)Gaa>Aaa p.E1162K CDK12_uc010wef.1_Missense_Mutation_p.E1161K|CDK12_uc002hrw.4_Missense_Mutation_p.E1162K NM_016507 NP_057591 Q9NYV4 CDK12_HUMAN Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA. 1162 RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 TGCCCTGACGGAAGCTACTTC 0.567000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 12 38 0 0 1 0 0 RMND1 55005 broad.mit.edu 37 6 151726916 151726916 + Missense_Mutation SNP T T G TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr6:151726916T>G uc003qoi.2 - 10 1436 c.1256A>C c.(1255-1257)cAc>cCc p.H419P RMND1_uc011eeq.1_Missense_Mutation_p.H208P NM_017909 NP_060379 Q9NWS8 RMND1_HUMAN Homo sapiens required for meiotic nuclear division 1 homolog (S. cerevisiae) (RMND1), mRNA. 419 central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.146) OV - Ovarian serous cystadenocarcinoma(155;6.8e-11) CTCATTCAGGTGATTCCGCAT 0.373000 10 43 0 0 1 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41065518 41065518 + Missense_Mutation SNP C C A TCGA-EM-A3O9-01A-11D-A21Z-08 TCGA-EM-A3O9-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41f16ea2-75e3-4257-b53d-2fe305ce9ff4 e91ddb5f-f587-4569-98ea-7473379e654f g.chr5:41065518C>A uc003jmj.4 - 3 766 c.276G>T c.(274-276)atG>atT p.M92I HEATR7B2_uc021xxt.1_Missense_Mutation_p.M92I NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 92 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 GTACTTCATACATCACAGAGT 0.418000 3 79 0 0 1 0 0