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 OTUD3 23252 broad.mit.edu 37 1 20232993 20232993 + Missense_Mutation SNP G G A TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr1:20232993G>A ENST00000375120.3 + 7 905 c.904G>A c.(904-906)Ggc>Agc p.G302S NM_015207.1 NP_056022.1 Q5T2D3 OTUD3_HUMAN OTU domain containing 3 302 breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1) 9 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GGAGGAGGGTGGCAGTGGTGC 0.468000 5 8 0 0 1 0 0 ZFP2 80108 broad.mit.edu 37 5 178358732 178358732 + Missense_Mutation SNP A A G TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr5:178358732A>G ENST00000361362.2 + 5 948 c.418A>G c.(418-420)Att>Gtt p.I140V ZFP2_ENST00000520301.1_Missense_Mutation_p.I140V|ZFP2_ENST00000523286.1_Missense_Mutation_p.I140V|ZFP2_ENST00000503510.2_Missense_Mutation_p.I140V NM_030613.2 NP_085116.2 Q6ZN57 ZFP2_HUMAN ZFP2 zinc finger protein 140 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 20 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111) GAAACACTTCATTGAACGATC 0.413000 25 29 0 0 1 0 0 LIMS2 55679 broad.mit.edu 37 2 128412102 128412102 + Silent SNP G G A TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr2:128412102G>A ENST00000409455.1 - 4 875 c.240C>T c.(238-240)ggC>ggT p.G80G LIMS2_ENST00000409808.2_Silent_p.G80G|LIMS2_ENST00000355119.4_Silent_p.G85G|LIMS2_ENST00000324938.5_Silent_p.G109G|LIMS2_ENST00000545738.2_Silent_p.G107G|LIMS2_ENST00000410011.1_Silent_p.G80G Q7Z4I7 LIMS2_HUMAN LIM and senescent cell antigen-like domains 2 85 LIM zinc-binding 2. cell junction assembly cytosol|focal adhesion|nucleus zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0681) TGATGACGCGGCCAATGATGA 0.607000 4 86 0 0 1 0 0 PRMT1 3276 broad.mit.edu 37 19 50185323 50185323 + Splice_Site SNP G G C TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr19:50185323G>C ENST00000532489.1 + 4 716 c.e4+1 PRMT1_ENST00000454376.2_Splice_Site|PRMT1_ENST00000391851.4_Splice_Site Q8WUW5 Q8WUW5_HUMAN protein arginine methyltransferase 1 cytoplasm protein methyltransferase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2) 12 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012) GGTCATCGGGGTGAGTCTCCA 0.682000 3 42 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 68934377 68934377 + Splice_Site SNP T T A TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr8:68934377T>A ENST00000288368.4 + 4 718 c.e4+2 PREX2_ENST00000529398.1_Splice_Site NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TTTCTTTTGGTAAGTGTATAT 0.338000 11 19 0 0 1 0 0 SPAG4 6676 broad.mit.edu 37 20 34205716 34205716 + Silent SNP C C T TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr20:34205716C>T ENST00000374273.3 + 4 604 c.492C>T c.(490-492)atC>atT p.I164I SPAG4_ENST00000462896.1_Intron NM_003116.1 NP_003107.1 Q9NPE6 SPAG4_HUMAN sperm associated antigen 4 164 spermatogenesis cilium|flagellar axoneme|integral to membrane structural molecule activity p.I164I(1) NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1) 21 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.0127) TCTGTTCCATCCGCTTCCTGT 0.637000 22 46 0 0 1 0 0 RICTOR 253260 broad.mit.edu 37 5 38950323 38950323 + Silent SNP C C T TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr5:38950323C>T ENST00000357387.3 - 31 3657 c.3627G>A c.(3625-3627)acG>acA p.T1209T RICTOR_ENST00000296782.5_Silent_p.T1209T NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 1209 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) TATGTGAGCTCGTTGAACTTT 0.393000 4 178 0 0 1 0 0 KRTAP10-8 386681 broad.mit.edu 37 21 46032334 46032334 + Missense_Mutation SNP C C T rs141295608 byFrequency TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr21:46032334C>T ENST00000334662.2 + 1 339 c.317C>T c.(316-318)cCg>cTg p.P106L TSPEAR_ENST00000323084.4_Intron NM_198695.2 NP_941968.2 P60410 KR108_HUMAN keratin associated protein 10-8 106 19 X 5 AA repeats of C-C-X(3). keratin filament breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 17 AGCTGCCAGCCGGCTTGCTGC 0.642000 30 61 0 0 1 0 0 FAM131B 9715 broad.mit.edu 37 7 143053779 143053779 + Missense_Mutation SNP G G A TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr7:143053779G>A ENST00000409408.1 - 6 2571 c.863C>T c.(862-864)gCg>gTg p.A288V FAM131B_ENST00000409578.1_Missense_Mutation_p.A304V|FAM131B_ENST00000409346.1_Missense_Mutation_p.A288V|FAM131B_ENST00000409222.3_Missense_Mutation_p.A288V|FAM131B_ENST00000443739.2_Missense_Mutation_p.A316V Q86XD5 F131B_HUMAN family with sequence similarity 131, member B 288 breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 Melanoma(164;0.205) CCGGCATCCCGCATCCTCTTC 0.627000 4 151 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46279860 46279860 + Silent SNP G G A rs151060280 byFrequency TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr20:46279860G>A ENST00000372004.3 + 20 3990 c.3774G>A c.(3772-3774)caG>caA p.Q1258Q NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1262 Acetyltransferase.|Poly-Gln. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding p.Q1262Q(1) breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcagcaacagc 0.567000 6 56 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29528481 29528481 + Nonsense_Mutation SNP C C G TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr17:29528481C>G ENST00000358273.4 + 11 1621 c.1238C>G c.(1237-1239)tCa>tGa p.S413* NF1_ENST00000431387.4_Nonsense_Mutation_p.S413*|NF1_ENST00000356175.3_Nonsense_Mutation_p.S413* NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 413 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(6) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CTGGTAAATTCACTCCATCGA 0.294000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 40 46 0 0 1 0 0 CADM1 23705 broad.mit.edu 37 11 115080343 115080343 + Silent SNP G G T TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr11:115080343G>T ENST00000537058.1 - 8 1049 c.1029C>A c.(1027-1029)acC>acA p.T343T CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000542447.2_Intron Q9BY67 CADM1_HUMAN cell adhesion molecule 1 343 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding p.T343T(5) cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) tggtggtggtggttgttgtgg 0.433000 3 41 0.00909568 0.00955046 1 1 0 OR10A3 26496 broad.mit.edu 37 11 7960834 7960834 + Silent SNP C C T TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr11:7960834C>T ENST00000360759.3 - 1 307 c.234G>A c.(232-234)acG>acA p.T78T NM_001003745.1 NP_001003745.1 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, member 3 78 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2) 21 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GCATTTCAGGCGTAATGACTG 0.448000 13 77 0 0 1 0 0 GGT1 2678 broad.mit.edu 37 22 25016897 25016897 + Missense_Mutation SNP A A T TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr22:25016897A>T ENST00000400382.1 + 9 1348 c.593A>T c.(592-594)gAt>gTt p.D198V GGT1_ENST00000400383.1_Missense_Mutation_p.D198V|GGT1_ENST00000466310.1_Intron|GGT1_ENST00000248923.4_Missense_Mutation_p.D198V|GGT1_ENST00000406383.2_Missense_Mutation_p.D198V|GGT1_ENST00000400380.1_Missense_Mutation_p.D198V P19440 GGT1_HUMAN gamma-glutamyltransferase 1 198 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 40 Glutathione(DB00143) TTCTGCCGGGATAGAAAGGTG 0.642000 3 20 0 0 1 0 0 FLT1 2321 broad.mit.edu 37 13 28919665 28919665 + Nonsense_Mutation SNP C C A TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr13:28919665C>A ENST00000282397.4 - 16 2523 c.2272G>T c.(2272-2274)Gag>Tag p.E758* FLT1_ENST00000540678.1_5'UTR NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 758 cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) GTGATCAGCTCCAGATTAGAC 0.403000 4 15 1 1 1 1 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 5 44 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53958826 53958826 + RNA SNP G G A TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr19:53958826G>A ENST00000454407.1 + 0 1518 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) AACCTTACAAGTGTAATGAGT 0.418000 4 135 0 0 1 0 0 CSRNP1 64651 broad.mit.edu 37 3 39188103 39188105 + In_Frame_Del DEL GAG GAG - TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr3:39188103_39188105delGAG ENST00000273153.5 - 2 246_248 c.69_71delCTC c.(67-72)tct>tc p.SS25del CSRNP1_ENST00000514182.1_In_Frame_Del_p.SS25del NM_033027.3 NP_149016.2 Q96S65 CSRN1_HUMAN cysteine-serine-rich nuclear protein 1 25 Ser-rich. apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3) 24 CCCAGAGGAAGAGGAGGAGGAGG 0.616 2 4 --- --- --- --- CPSF7 79869 broad.mit.edu 37 11 61183138 61183148 + Splice_Site DEL CTGCACTGGCT CTGCACTGGCT - TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr11:61183138_61183148delCTGCACTGGCT ENST00000340437.4 - 7 1283_1293 c.1213_splice c.e7+1 p.GASAG401_splice CPSF7_ENST00000448745.1_Splice_Site_p.GASAG349_splice|CPSF7_ENST00000394888.4_Splice_Site_p.GASAG358_splice|CPSF7_ENST00000439958.3_Splice_Site_p.GASAG349_splice NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 358 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 ACTGAGTTACCTGCACTGGCTCCAGATACTG 0.436 10 28 --- --- --- --- RP11-44F14.1 0 broad.mit.edu 37 16 53404542 53404543 + RNA INS - - A TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr16:53404542_53404543insA ENST00000565421.1 - 0 410 TCTCCTTTCTCAAACTTAACCT 0.327 8 31 --- --- --- --- BAHCC1 57597 broad.mit.edu 37 17 79423466 79423467 + Frame_Shift_Ins INS - - G TCGA-RW-A7D0-01A-11D-A35D-08 TCGA-RW-A7D0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99293d59-23c9-46cf-bdaf-00c2b51a02bf 023921e3-188f-4540-9b31-b6ebf8d992fd g.chr17:79423466_79423467insG ENST00000307745.7 + 20 4713_4714 c.4713_4714insG c.(4711-4716)ccggggfs p.PG1571fs AGGCTACCCCCGGGGGGCGCAT 0.683 2 4 --- --- --- ---