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 DCN 1634 broad.mit.edu 37 12 91546948 91546948 + Missense_Mutation SNP G G A rs144174426 TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr12:91546948G>A ENST00000052754.5 - 6 1172 c.671C>T c.(670-672)aCg>aTg p.T224M DCN_ENST00000456569.2_Intron|DCN_ENST00000303320.3_Intron|DCN_ENST00000441303.2_Intron|DCN_ENST00000393155.1_Missense_Mutation_p.T224M|DCN_ENST00000547568.2_Missense_Mutation_p.T77M|DCN_ENST00000552962.1_Missense_Mutation_p.T224M|DCN_ENST00000420120.2_Missense_Mutation_p.T115M|DCN_ENST00000425043.1_Missense_Mutation_p.T77M|DCN_ENST00000228329.5_Missense_Mutation_p.T115M NM_001920.3 NP_001911.1 P07585 PGS2_HUMAN decorin 224 organ morphogenesis extracellular space p.T224M(1) central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1) 20 ATGTAATTCCGTAAGGGAAGG 0.348000 7 122 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 3 67 0 0 1 0 0 OR4A16 81327 broad.mit.edu 37 11 55111416 55111416 + Missense_Mutation SNP T T C TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr11:55111416T>C ENST00000314721.2 + 1 790 c.740T>C c.(739-741)cTc>cCc p.L247P NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 247 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 GTGGTTGCCCTCGTTTTTGTT 0.398000 16 41 0 0 1 0 0 ROR2 4920 broad.mit.edu 37 9 94499693 94499693 + Missense_Mutation SNP T T C TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr9:94499693T>C ENST00000375708.3 - 5 800 c.602A>G c.(601-603)gAg>gGg p.E201G ROR2_ENST00000375715.1_Missense_Mutation_p.E61G|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 201 FZ. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GTTTTCAATCTCCCCCTGCAT 0.537000 3 146 0 0 1 0 0 TNFSF14 0 broad.mit.edu 37 19 6670062 6670062 + Missense_Mutation SNP G G A TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr19:6670062G>A ENST00000326176.9 - 2 400 c.19C>T c.(19-21)Cgg>Tgg p.R7W TNFSF14_ENST00000599359.1_Missense_Mutation_p.R7W|TNFSF14_ENST00000245912.3_Missense_Mutation_p.R7W NM_003807.3|NM_172014.2 NP_003798.2|NP_742011.2 O43557 TNF14_HUMAN tumor necrosis factor (ligand) superfamily, member 14 7 cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 ACTGAGGGCCGTACGACACTC 0.602000 4 89 0 0 1 0 0 LMLN 89782 broad.mit.edu 37 3 197707307 197707307 + Silent SNP C C T TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr3:197707307C>T ENST00000330198.4 + 6 682 c.660C>T c.(658-660)acC>acT p.T220T LMLN_ENST00000420910.2_Silent_p.T220T|LMLN_ENST00000332636.5_Silent_p.T168T|LMLN_ENST00000482695.1_Silent_p.T168T NM_033029.3 NP_149018.2 Q96KR4 LMLN_HUMAN leishmanolysin-like (metallopeptidase M8 family) 220 cell adhesion|cell division|mitosis|proteolysis cytoplasm|membrane metalloendopeptidase activity|zinc ion binding p.T220T(1) endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.111) CTCTGGCCACCGAGAGATGCA 0.502000 5 203 0 0 1 0 0 SH3GL2 6456 broad.mit.edu 37 9 17795580 17795580 + Missense_Mutation SNP G G A rs139383722 TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr9:17795580G>A ENST00000380607.4 + 9 1018 c.898G>A c.(898-900)Gac>Aac p.D300N SH3GL2_ENST00000537391.1_Missense_Mutation_p.D253N NM_003026.2 NP_003017.1 Q99962 SH3G2_HUMAN SH3-domain GRB2-like 2 300 SH3. axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport cytosol|Golgi membrane|plasma membrane identical protein binding|lipid binding p.D300N(1) NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203) AGCTCTGTACGACTTTGAACC 0.463000 25 36 0 0 1 0 0 AK8 158067 broad.mit.edu 37 9 135730311 135730311 + Splice_Site SNP G G A TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr9:135730311G>A ENST00000298545.3 - 5 856 c.333_splice c.e5-1 p.T112_splice AK8_ENST00000477396.1_5'UTR NM_152572.2 NP_689785.1 Q96MA6 KAD8_HUMAN adenylate kinase 8 112 cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2) 23 GCTGGGAACTGTCTGAAGGAA 0.567000 4 64 0 0 1 0 0 OPA1 4976 broad.mit.edu 37 3 193360822 193360822 + Missense_Mutation SNP G G A TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr3:193360822G>A ENST00000361510.2 + 13 1523 c.1289G>A c.(1288-1290)tGt>tAt p.C430Y OPA1_ENST00000361715.2_Missense_Mutation_p.C394Y|OPA1_ENST00000392438.3_Missense_Mutation_p.C375Y|OPA1_ENST00000361828.2_Missense_Mutation_p.C393Y|OPA1_ENST00000361908.3_Missense_Mutation_p.C412Y|OPA1_ENST00000361150.2_Missense_Mutation_p.C376Y NM_130837.2 NP_570850.2 O60313 OPA1_HUMAN optic atrophy 1 (autosomal dominant) 375 Missing (in OPA1).|N -> D (in OPA1). apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) AAAGAAGGCTGTACCGTTAGC 0.323000 3 44 0 0 1 0 0 BUB1 699 broad.mit.edu 37 2 111398886 111398886 + Silent SNP G G A TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr2:111398886G>A ENST00000535254.1 - 21 2788 c.2721C>T c.(2719-2721)aaC>aaT p.N907N BUB1_ENST00000409311.1_Intron|BUB1_ENST00000302759.6_Silent_p.N927N NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 927 Protein kinase. apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) ACACTTGCCCGTTTCCAAGTA 0.383000 4 109 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100679973 100679973 + Missense_Mutation SNP C C T TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr7:100679973C>T ENST00000306151.4 + 3 5340 c.5276C>T c.(5275-5277)aCg>aTg p.T1759M NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1759 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GTCAGCACCACGCCGGTACTC 0.502000 223 351 0 0 1 0 0 HLA-DOA 3111 broad.mit.edu 37 6 32975227 32975227 + Silent SNP C C T TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr6:32975227C>T ENST00000229829.5 - 3 549 c.474G>A c.(472-474)gtG>gtA p.V158V HLA-DOA_ENST00000495532.1_5'UTR|HLA-DOA_ENST00000450833.2_Silent_p.V128V NM_002119.3 NP_002110.1 P06340 DOA_HUMAN major histocompatibility complex, class II, DO alpha 158 Alpha-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1) 9 TGGTCTGGGCCACTCCCTCAG 0.577000 91 186 0 0 1 0 0 FCHSD1 89848 broad.mit.edu 37 5 141023973 141023973 + Missense_Mutation SNP C C T TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr5:141023973C>T ENST00000435817.2 - 17 1725 c.1675G>A c.(1675-1677)Gga>Aga p.G559R FCHSD1_ENST00000522126.1_3'UTR|FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_Missense_Mutation_p.G485R NM_033449.2 NP_258260.1 Q86WN1 FCSD1_HUMAN FCH and double SH3 domains 1 559 SH3 2. FCHSD1/BRAF(2) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCACTCTGTCCGGTGTAGCTG 0.622000 20 23 0 0 1 0 0 OR5K3 403277 broad.mit.edu 37 3 98109669 98109669 + Missense_Mutation SNP C C T rs150899692 TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr3:98109669C>T ENST00000383695.1 + 1 160 c.160C>T c.(160-162)Cgt>Tgt p.R54C RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005516.1 NP_001005516.1 A6NET4 OR5K3_HUMAN olfactory receptor, family 5, subfamily K, member 3 54 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1) 27 TATAGAGCAACGTCTTCACAC 0.413000 95 178 0 0 1 0 0 PRKD1 5587 broad.mit.edu 37 14 30105555 30105555 + Silent SNP G G A TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr14:30105555G>A ENST00000331968.5 - 7 1360 c.1131C>T c.(1129-1131)aaC>aaT p.N377N PRKD1_ENST00000415220.2_Silent_p.N385N NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 377 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) CGCCACTGTCGTTCTGGCACT 0.542000 97 173 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 8 171 0 0 1 0 0 OPN5 221391 broad.mit.edu 37 6 47775993 47775993 + Missense_Mutation SNP T T A TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr6:47775993T>A ENST00000489301.2 + 5 945 c.860T>A c.(859-861)cTc>cAc p.L287H OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Missense_Mutation_p.L287H|OPN5_ENST00000371211.2_Missense_Mutation_p.L287H Q6U736 OPN5_HUMAN opsin 5 287 phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 29 CCCATACAGCTCTCTGTGGTG 0.463000 63 112 0 0 1 0 0 C2orf43 60526 broad.mit.edu 37 2 21001131 21001131 + Missense_Mutation SNP C C G TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr2:21001131C>G ENST00000237822.3 - 2 172 c.93G>C c.(91-93)tgG>tgC p.W31C C2orf43_ENST00000403006.2_Intron|C2orf43_ENST00000435420.2_Missense_Mutation_p.W31C|C2orf43_ENST00000440866.2_Missense_Mutation_p.W31C|C2orf43_ENST00000419825.2_Missense_Mutation_p.W31C|C2orf43_ENST00000541941.1_Intron|C2orf43_ENST00000381090.3_Missense_Mutation_p.W31C NM_021925.2 NP_068744.1 Q9H6V9 CB043_HUMAN chromosome 2 open reading frame 43 31 endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGAGGTCTGTCCAGGGCCCAC 0.423000 45 81 0 0 1 0 0 SLC36A3 285641 broad.mit.edu 37 5 150663635 150663635 + Missense_Mutation SNP G G A TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr5:150663635G>A ENST00000335230.3 - 8 1355 c.944C>T c.(943-945)gCc>gTc p.A315V SLC36A3_ENST00000377713.3_Missense_Mutation_p.A356V NM_181774.3 NP_861439.3 Q495N2 S36A3_HUMAN solute carrier family 36, member 3 315 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 21 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGTGATGCTGGCCTGGGTGTC 0.498000 5 160 0 0 1 0 0 IL13RA1 3597 broad.mit.edu 37 X 117900529 117900529 + Missense_Mutation SNP A A G TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chrX:117900529A>G ENST00000371666.3 + 7 932 c.865A>G c.(865-867)Aga>Gga p.R289G IL13RA1_ENST00000481868.1_3'UTR NM_001560.2 NP_001551.1 P78552 I13R1_HUMAN interleukin 13 receptor, alpha 1 289 interleukin-13 receptor complex cytokine receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(7) 12 AGAATTTGAGAGAAATGTGGA 0.338000 5 55 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135298930 135298930 + Silent SNP C C T TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr7:135298930C>T ENST00000285968.6 + 23 3245 c.3219C>T c.(3217-3219)tgC>tgT p.C1073C NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 1073 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 TATGTGCATGCTCTGATACAT 0.358000 4 87 0 0 1 0 0 MT-CO2 4513 broad.mit.edu 37 MT 7919 7919 + Missense_Mutation SNP G G C TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chrM:7919G>C ENST00000361739.1 + 1 334 c.334G>C c.(334-336)Gac>Cac p.D112H mitochondrially encoded cytochrome c oxidase II endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1) 19 ACGAGTACACCGACTACGGCG 0.493000 3 23 0 0 1 0 0 LRRC4B 94030 broad.mit.edu 37 19 51022537 51022537 + Missense_Mutation SNP G G A TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr19:51022537G>A ENST00000599957.1 - 3 630 c.433C>T c.(433-435)Cgg>Tgg p.R145W LRRC4B_ENST00000389201.3_Missense_Mutation_p.R145W Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 145 cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) GTGGTCAGCCGGTTGTCAAAA 0.622000 46 25 0 0 1 0 0 hsa-mir-7162 0 broad.mit.edu 37 15 62539307 62539307 + RNA SNP T T A TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr15:62539307T>A ENST00000570077.1 - 0 282 CCTCAACGTGTGCACCTGCCC 0.607000 3 30 0 0 1 0 0 GDF10 2662 broad.mit.edu 37 10 48426631 48426631 + Missense_Mutation SNP T T C TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr10:48426631T>C ENST00000224605.2 - 3 1641 c.1376A>G c.(1375-1377)aAt>aGt p.N459S NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 459 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 CACATTCCGATTCTCATCCAG 0.582000 OREG0020165 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 203 0 0 1 0 0 DPPA2 151871 broad.mit.edu 37 3 109028103 109028103 + Missense_Mutation SNP G G A TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr3:109028103G>A ENST00000478945.1 - 4 502 c.256C>T c.(256-258)Ccg>Tcg p.P86S NM_138815.3 NP_620170.3 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 86 nucleus nucleic acid binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AAAATGGTCGGCAAGGGAAGG 0.443000 4 181 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48411941 48411941 + Silent SNP A A T TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr7:48411941A>T ENST00000435803.1 + 33 11004 c.10980A>T c.(10978-10980)tcA>tcT p.S3660S NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3660 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TTGGGATGTCAGTCGTCATGC 0.458000 6 266 0 0 1 0 0 TSTA3 7264 broad.mit.edu 37 8 144696860 144696860 + Missense_Mutation SNP T T C TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr8:144696860T>C ENST00000425753.2 - 5 501 c.398A>G c.(397-399)aAt>aGt p.N133S TSTA3_ENST00000529064.1_Missense_Mutation_p.N133S NM_003313.3 NP_003304.1 Q13630 FCL_HUMAN tissue specific transplantation antigen P35B 133 'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1) 9 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) NADH(DB00157) GGGAGGCCCATTGTGGATCTG 0.662000 3 128 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175116175 175116175 + Missense_Mutation SNP C C T TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr1:175116175C>T ENST00000239462.4 + 19 3981 c.3868C>T c.(3868-3870)Cgg>Tgg p.R1290W NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 1290 cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CAGAAAGAAGCGGACGCTGAG 0.592000 OREG0013992 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 24 0 0 1 0 0 GAREM 64762 broad.mit.edu 37 18 29848207 29848207 + Missense_Mutation SNP T T C TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr18:29848207T>C ENST00000399218.4 - 6 2310 c.2255A>G c.(2254-2256)gAa>gGa p.E752G GAREM_ENST00000269209.6_Missense_Mutation_p.E753G NM_001242409.1|NM_022751.2 NP_001229338.1|NP_073588.1 GRB2 associated, regulator of MAPK1 CTTGGGGTCTTCCTCAGCACC 0.522000 38 48 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109382889 109382889 + Missense_Mutation SNP A A G TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr2:109382889A>G ENST00000283195.6 + 20 6020 c.5894A>G c.(5893-5895)gAc>gGc p.D1965G NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 1965 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 GGCAAAAAAGACCCCAATTTC 0.388000 13 295 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3135615 3135615 + Silent SNP G G A TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr18:3135615G>A ENST00000356443.4 - 15 2472 c.2139C>T c.(2137-2139)cgC>cgT p.R713R MYOM1_ENST00000261606.7_Silent_p.R713R|MYOM1_ENST00000400569.3_Silent_p.R713R NM_003803.3|NM_019856.1 NP_003794.3|NP_062830.1 P52179 MYOM1_HUMAN myomesin 1 713 Fibronectin type-III 2. striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 AATTAGAACAGCGGACACGGA 0.512000 3 52 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228432192 228432192 + Missense_Mutation SNP C C A TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr1:228432192C>A ENST00000570156.2 + 12 3751 c.3677C>A c.(3676-3678)cCa>cAa p.P1226Q OBSCN_ENST00000422127.1_Missense_Mutation_p.P1134Q|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.P1134Q|OBSCN_ENST00000366709.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 172 Ig-like 12. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CTGGTGCTGCCACAGGCGGGC 0.587000 8 80 1.08611e-07 1.14514e-07 1 1 0 MYO1H 283446 broad.mit.edu 37 12 109835562 109835562 + Missense_Mutation SNP G G A TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr12:109835562G>A ENST00000310903.5 + 5 573 c.467G>A c.(466-468)cGg>cAg p.R156Q MYO1H_ENST00000431443.2_Missense_Mutation_p.R156Q B4DNW6 B4DNW6_HUMAN myosin IH 0 myosin complex motor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 AGAACGCTCCGGAATGACAAC 0.408000 3 40 0 0 1 0 0 PDP2 57546 broad.mit.edu 37 16 66919576 66919576 + Silent SNP C C T TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr16:66919576C>T ENST00000311765.2 + 2 1723 c.1389C>T c.(1387-1389)ctC>ctT p.L463L PDP2_ENST00000568720.1_Intron NM_020786.2 NP_065837.1 Q9P2J9 PDP2_HUMAN pyruvate dehyrogenase phosphatase catalytic subunit 2 463 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) CCAGCGGGCTCCACGAGGCTG 0.617000 9 10 0 0 1 0 0 ECM2 1842 broad.mit.edu 37 9 95277148 95277148 + Missense_Mutation SNP C C A TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr9:95277148C>A ENST00000344604.5 - 4 968 c.819G>T c.(817-819)gaG>gaT p.E273D CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.E251D NM_001197295.1|NM_001393.3 NP_001184224.1|NP_001384.1 O94769 ECM2_HUMAN extracellular matrix protein 2, female organ and adipocyte specific 273 Poly-Glu. cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 cctcctcatcctcctcctcct 0.607000 4 118 0.00024832 0.000259 1 1 0 CNTN3 5067 broad.mit.edu 37 3 74383984 74383984 + Missense_Mutation SNP G G T TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr3:74383984G>T ENST00000263665.6 - 12 1597 c.1570C>A c.(1570-1572)Caa>Aaa p.Q524K NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 524 Ig-like C2-type 6. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) GGGTCATGTTGTACCTGGCAG 0.418000 37 61 1.15183e-24 1.24142e-24 1 1 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 48 70 0 0 1 0 0 ANKRD17 26057 broad.mit.edu 37 4 73942823 73942823 + Splice_Site SNP T T C TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr4:73942823T>C ENST00000358602.4 - 33 7704 c.e33-2 ANKRD17_ENST00000330838.6_Splice_Site|ANKRD17_ENST00000509867.2_Splice_Site NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AGGCATACCCTTAAAAAAGGA 0.388000 5 29 0 0 1 0 0 GTF2IRD2 84163 broad.mit.edu 37 7 74212378 74212378 + Silent SNP T T C TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr7:74212378T>C ENST00000405086.2 - 16 1662 c.1473A>G c.(1471-1473)aaA>aaG p.K491K GTF2IRD2_ENST00000451013.2_Silent_p.K38K NM_173537.2 NP_775808.2 Q86UP8 GTD2A_HUMAN GTF2I repeat domain containing 2 491 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1) 11 tcctgagcccttttttcagct 0.468000 3 106 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151970801 151970801 + Missense_Mutation SNP G G T TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr7:151970801G>T ENST00000355193.2 - 7 1219 c.1001C>A c.(1000-1002)gCt>gAt p.A334D KMT2C_ENST00000262189.6_Missense_Mutation_p.A334D lysine (K)-specific methyltransferase 2C TCTTTCAGGAGCTTGGTCAAT 0.383000 5 357 0.00198382 0.00204713 1 1 0 C11orf42 160298 broad.mit.edu 37 11 6231500 6231500 + Missense_Mutation SNP G G C TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr11:6231500G>C ENST00000316375.2 + 2 543 c.493G>C c.(493-495)Gtc>Ctc p.V165L NM_173525.2 NP_775796.2 Q8N5U0 CK042_HUMAN chromosome 11 open reading frame 42 165 endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1) 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATCTACCAGGTCTTCTCTTG 0.587000 11 156 0 0 1 0 0 CDKL5 6792 broad.mit.edu 37 X 18646678 18646678 + Missense_Mutation SNP C C A TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chrX:18646678C>A ENST00000379989.3 + 19 2969 c.2684C>A c.(2683-2685)cCg>cAg p.P895Q CDKL5_ENST00000379996.3_Missense_Mutation_p.P895Q NM_001037343.1 NP_001032420.1 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 895 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1) 44 Hepatocellular(33;0.183) GAACCCGCACCGAAGGGCAGG 0.577000 3 64 1 1 1 1 0 DEFB119 245932 broad.mit.edu 37 20 29976970 29976970 + Missense_Mutation SNP C C T TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr20:29976970C>T ENST00000376315.2 - 2 124 c.125G>A c.(124-126)cGc>cAc p.R42H DEFB119_ENST00000492344.1_Intron|DEFB119_ENST00000376321.3_Intron|DEFB119_ENST00000339144.3_Intron NM_001271209.1|NM_153323.4 NP_001258138.1|NP_697018.1 Q8N690 DB119_HUMAN defensin, beta 119 48 defense response to bacterium extracellular region large_intestine(2)|lung(1)|prostate(1) 4 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) ATTTCGGCAGCGTATGATGCT 0.453000 13 177 0 0 1 0 0 MINK1 50488 broad.mit.edu 37 17 4797498 4797498 + Silent SNP T T C TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr17:4797498T>C ENST00000355280.6 + 23 2896 c.2700T>C c.(2698-2700)caT>caC p.H900H MINK1_ENST00000347992.7_Silent_p.H871H|MINK1_ENST00000453408.3_Silent_p.H880H NM_001024937.3|NM_015716.4|NM_153827.4 NP_001020108.1|NP_056531.1|NP_722549.2 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 900 Mediates interaction with RAP2A. JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 ACCTGCTGCATGCTGACAGCA 0.622000 40 99 0 0 1 0 0 CSTF1 1477 broad.mit.edu 37 20 54974333 54974333 + Missense_Mutation SNP A A G TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr20:54974333A>G ENST00000217109.4 + 5 1308 c.956A>G c.(955-957)aAa>aGa p.K319R CSTF1_ENST00000493039.1_3'UTR NM_001033521.1|NM_001324.2 NP_001028693.1|NP_001315.1 Q05048 CSTF1_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa 319 mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 15 Colorectal(105;0.202) AAAAATTCTAAATACATTCTC 0.388000 6 84 0 0 1 0 0 UEVLD 55293 broad.mit.edu 37 11 18568522 18568522 + Missense_Mutation SNP T T A TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr11:18568522T>A ENST00000396197.3 - 8 819 c.791A>T c.(790-792)gAt>gTt p.D264V UEVLD_ENST00000379387.4_Missense_Mutation_p.D242V|UEVLD_ENST00000320750.6_Missense_Mutation_p.D242V|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000535484.1_Missense_Mutation_p.D226V|UEVLD_ENST00000543987.1_Missense_Mutation_p.D264V NM_001040697.2|NM_001261384.1 NP_001035787.1|NP_001248313.1 Q8IX04 UEVLD_HUMAN UEV and lactate/malate dehyrogenase domains 264 cellular carbohydrate metabolic process|protein modification process|protein transport binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 CTGTACCACATCAAGGTACGA 0.458000 10 99 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81161555 81161555 + RNA SNP G G T TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr16:81161555G>T ENST00000533478.1 - 0 4215 PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000534142.1_RNA NM_001278425.1 NP_001265354.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TATGGTGCACGGCATCCGTTG 0.567000 3 44 0.00909568 0.00928717 1 1 0 ZBTB18 10472 broad.mit.edu 37 1 244218515 244218515 + Missense_Mutation SNP G G A TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr1:244218515G>A ENST00000358704.4 + 2 1588 c.1439G>A c.(1438-1440)tGc>tAc p.C480Y NM_001278196.1|NM_006352.4|NM_205768.2 NP_001265125.1|NP_006343.2|NP_991331.1 zinc finger and BTB domain containing 18 TGCAAGTGGTGCGAGCGCAGG 0.597000 28 50 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14498282 14498282 + Missense_Mutation SNP G G A TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr5:14498282G>A ENST00000344204.4 + 52 8156 c.8132G>A c.(8131-8133)cGc>cAc p.R2711H TRIO_ENST00000537187.1_Missense_Mutation_p.R2535H|TRIO_ENST00000344135.5_Missense_Mutation_p.R210H NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 2711 Ig-like C2-type. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) GTCTGTGGCCGCCCCAAAGCC 0.542000 3 74 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149493511 149493511 + RNA SNP G G A TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr7:149493511G>A ENST00000378016.2 + 0 6587 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ACTTTCGGCCGCATGGTGCAG 0.607000 4 174 0 0 1 0 0 CLEC14A 161198 broad.mit.edu 37 14 38724727 38724727 + Silent SNP G G A TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr14:38724727G>A ENST00000342213.2 - 1 847 c.501C>T c.(499-501)aaC>aaT p.N167N NM_175060.2 NP_778230.1 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 167 C-type lectin. integral to membrane sugar binding p.N167N(1) breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) ACAGGTAGCCGTTGGCGCGCA 0.682000 4 74 0 0 1 0 0 AHI1 54806 broad.mit.edu 37 6 135787392 135787392 + Silent SNP G G A TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr6:135787392G>A ENST00000367800.4 - 5 525 c.309C>T c.(307-309)aaC>aaT p.N103N AHI1_ENST00000327035.6_Silent_p.N103N|AHI1_ENST00000457866.2_Silent_p.N103N NM_001134830.1 NP_001128302.1 Q8N157 AHI1_HUMAN Abelson helper integration site 1 103 adherens junction|cilium|microtubule basal body NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1) 37 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) CTAACTGTGTGTTCCTCAATT 0.393000 85 95 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430688 37430688 + Missense_Mutation SNP C C T TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr10:37430688C>T ENST00000374660.1 + 7 794 c.695C>T c.(694-696)gCg>gTg p.A232V ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A232V|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A232V Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 288 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.A232V(1) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GCACCCTTGGCGGAAAGAACA 0.483000 5 68 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 118949845 118949845 + Silent SNP C C T rs115729347 byFrequency TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr9:118949845C>T ENST00000328252.3 + 2 1197 c.828C>T c.(826-828)ggC>ggT p.G276G NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 276 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 AAACCCATGGCGCCCACACTG 0.572000 4 144 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23544867 23544867 + Missense_Mutation SNP T T C TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr19:23544867T>C ENST00000300619.7 - 4 1119 c.914A>G c.(913-915)cAt>cGt p.H305R ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 305 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGTTGAAGAATGGCTAAAAGC 0.413000 4 112 0 0 1 0 0 EFCAB12 90288 broad.mit.edu 37 3 129120596 129120596 + Missense_Mutation SNP G G A TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr3:129120596G>A ENST00000505956.1 - 9 1721 c.1559C>T c.(1558-1560)aCt>aTt p.T520I EFCAB12_ENST00000326085.3_Missense_Mutation_p.T520I NM_207307.1 NP_997190.1 EF-hand calcium binding domain 12 TGTGGCCACAGTGGGCAGGTA 0.587000 5 7 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7211105 7211105 + Missense_Mutation SNP G G A TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr6:7211105G>A ENST00000379938.2 + 7 1031 c.494G>A c.(493-495)cGt>cAt p.R165H RREB1_ENST00000334984.6_Missense_Mutation_p.R165H|RREB1_ENST00000379933.3_Missense_Mutation_p.R165H|RREB1_ENST00000349384.6_Missense_Mutation_p.R165H NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 165 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CCTCTGAAACGTAGGCGATTG 0.502000 5 190 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47933628 47933628 + Missense_Mutation SNP C C G TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr7:47933628C>G ENST00000289672.2 - 15 2350 c.2300G>C c.(2299-2301)aGc>aCc p.S767T NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 767 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 ACAGTAGTTGCTGTACACCAC 0.572000 33 68 0 0 1 0 0 CUX2 23316 broad.mit.edu 37 12 111729277 111729277 + Silent SNP C C T TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr12:111729277C>T ENST00000261726.6 + 5 511 c.357C>T c.(355-357)ccC>ccT p.P119P NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 119 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 TGCAGCCCCCCAGCTTTGACC 0.617000 8 108 0 0 1 0 0 PHC3 80012 broad.mit.edu 37 3 169835095 169835095 + Silent SNP A A G TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr3:169835095A>G ENST00000494943.1 - 10 2144 c.2076T>C c.(2074-2076)ccT>ccC p.P692P PHC3_ENST00000495893.1_Silent_p.P704P|PHC3_ENST00000467570.1_Silent_p.P651P Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 692 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) TAGCCTGTGGAGGTTTGTTCT 0.433000 6 65 0 0 1 0 0 hsa-mir-7162 0 broad.mit.edu 37 15 62539305 62539305 + RNA SNP T T C TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr15:62539305T>C ENST00000570077.1 - 0 284 TCCCTCAACGTGTGCACCTGC 0.607000 4 31 0 0 1 0 0 hsa-mir-7162 0 broad.mit.edu 37 15 62539227 62539227 + RNA SNP C C T TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr15:62539227C>T ENST00000570077.1 - 0 362 AGCTTACCCACCTGGTTCCTT 0.577000 7 48 0 0 1 0 0 CROT 54677 broad.mit.edu 37 7 86990776 86990776 + Missense_Mutation SNP C C T TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr7:86990776C>T ENST00000331536.3 + 5 496 c.311C>T c.(310-312)gCg>gTg p.A104V CROT_ENST00000419147.2_Missense_Mutation_p.A132V|CROT_ENST00000442291.1_Missense_Mutation_p.A104V NM_021151.3 NP_066974.2 Q9UKG9 OCTC_HUMAN carnitine O-octanoyltransferase 104 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) GTCAACTTTGCGGGTCCTGCA 0.423000 4 145 0 0 1 0 0 VAX1 11023 broad.mit.edu 37 10 118896039 118896039 + Missense_Mutation SNP C C T TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr10:118896039C>T ENST00000277905.2 - 2 617 c.373G>A c.(373-375)Gtg>Atg p.V125M VAX1_ENST00000369206.5_Missense_Mutation_p.V125M NM_199131.2 NP_954582.1 Q5SQQ9 VAX1_HUMAN ventral anterior homeobox 1 125 nucleus sequence-specific DNA binding endometrium(1)|large_intestine(1)|lung(8)|ovary(2) 12 all cancers(201;0.0108) CGGCCCACCACGTACTGGCAG 0.667000 16 41 0 0 1 0 0 NEO1 4756 broad.mit.edu 37 15 73541990 73541990 + Nonsense_Mutation SNP C C T TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr15:73541990C>T ENST00000339362.5 + 12 2269 c.1822C>T c.(1822-1824)Cga>Tga p.R608* NEO1_ENST00000558964.1_Nonsense_Mutation_p.R608*|NEO1_ENST00000261908.6_Nonsense_Mutation_p.R608*|NEO1_ENST00000560262.1_Nonsense_Mutation_p.R608* Q92859 NEO1_HUMAN neogenin 1 608 Fibronectin type-III 2. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 GTATAGTTTCCGAGTGGTGGC 0.378000 4 117 0 0 1 0 0 LPHN1 22859 broad.mit.edu 37 19 14271032 14271032 + Silent SNP G G A rs150872915 TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr19:14271032G>A ENST00000340736.6 - 9 2004 c.1707C>T c.(1705-1707)gaC>gaT p.D569D LPHN1_ENST00000361434.3_Silent_p.D564D|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA NM_001008701.2 NP_001008701.1 O94910 LPHN1_HUMAN latrophilin 1 569 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AGGAGGAGACGTCCCCCGCGT 0.662000 4 134 0 0 1 0 0 RALGDS 5900 broad.mit.edu 37 9 135979652 135979652 + Missense_Mutation SNP T T C TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr9:135979652T>C ENST00000393160.3 - 10 1857 c.1504A>G c.(1504-1506)Acg>Gcg p.T502A RALGDS_ENST00000372047.3_Missense_Mutation_p.T545A|RALGDS_ENST00000542690.1_Missense_Mutation_p.T628A|RALGDS_ENST00000372062.3_Missense_Mutation_p.T528A|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372050.3_Missense_Mutation_p.T557A|RALGDS_ENST00000393157.3_Missense_Mutation_p.T556A NM_001042368.1 NP_001035827.1 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 557 Ras-GEF. nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) ACTCTCACCGTCTCCTTCGGC 0.657000 T CIITA """PMBL, Hodgkin Lymphona, """ 28 33 0 0 1 0 0 LEFTY2 7044 broad.mit.edu 37 1 226125277 226125277 + Missense_Mutation SNP G G T TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr1:226125277G>T ENST00000366820.5 - 4 1313 c.965C>A c.(964-966)gCc>gAc p.A322D LEFTY2_ENST00000420304.2_Missense_Mutation_p.A288D NM_003240.3 NP_003231.2 O00292 LFTY2_HUMAN left-right determination factor 2 322 cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway extracellular space|platelet alpha granule lumen cytokine activity|growth factor activity|transforming growth factor beta receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(184;0.197) GGGCAGCGAGGCAGTCTCCGA 0.647000 3 48 1 1 1 1 0 HIVEP3 59269 broad.mit.edu 37 1 42050151 42050151 + Silent SNP C C T TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr1:42050151C>T ENST00000372584.1 - 3 1332 c.318G>A c.(316-318)tcG>tcA p.S106S HIVEP3_ENST00000429157.2_Silent_p.S106S|HIVEP3_ENST00000372583.1_Silent_p.S106S|HIVEP3_ENST00000247584.5_Silent_p.S106S NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 106 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GTTTGCCAGGCGACATGAATG 0.617000 98 42 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3225848 3225848 + Silent SNP G G A TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr4:3225848G>A ENST00000355072.5 + 56 7900 c.7755G>A c.(7753-7755)ccG>ccA p.P2585P NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 2585 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CTCTGTCTCCGGCTACTACAG 0.512000 12 266 0 0 1 0 0 PCDHB17 0 broad.mit.edu 37 5 140537080 140537080 + Missense_Mutation SNP G G T TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr5:140537080G>T ENST00000539533.1 + 1 1504 c.1504G>T c.(1504-1506)Gcc>Tcc p.A502S CCTGCCCCTCGCCTCCCTGGT 0.652000 99 172 3.98107e-36 4.33892e-36 1 1 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 4 68 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1926215 1926215 + Silent SNP C C T TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr2:1926215C>T ENST00000399161.2 - 10 2073 c.1326G>A c.(1324-1326)acG>acA p.T442T MYT1L_ENST00000428368.2_Silent_p.T442T NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 442 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TTGCTCTTTCCGTTTCCAAAG 0.547000 66 98 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201042735 201042735 + Missense_Mutation SNP G G A rs147112322 TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr1:201042735G>A ENST00000362061.3 - 15 2325 c.2099C>T c.(2098-2100)aCg>aTg p.T700M CACNA1S_ENST00000367338.3_Missense_Mutation_p.T700M NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 700 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CTTGGCCATCGTTGACTTCTC 0.542000 52 515 0 0 1 0 0 ERCC6 2074 broad.mit.edu 37 10 50667030 50667030 + Missense_Mutation SNP T T C TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr10:50667030T>C ENST00000355832.5 - 21 4391 c.4313A>G c.(4312-4314)cAg>cGg p.Q1438R ERCC6_ENST00000542458.1_Missense_Mutation_p.Q808R|RP11-123B3.2_ENST00000423283.1_RNA NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 1438 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 AGTGTGGGCCTGGAAAGCGAT 0.517000 Direct reversal of damage;Nucleotide excision repair (NER) 3 118 0 0 1 0 0 WBSCR22 114049 broad.mit.edu 37 7 73098232 73098232 + Splice_Site SNP G G A TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr7:73098232G>A ENST00000423166.2 + 2 202 c.e2+1 WBSCR22_ENST00000265758.2_Intron|WBSCR22_ENST00000423497.1_Intron|WBSCR22_ENST00000464615.1_Intron O43709 WBS22_HUMAN Williams Beuren syndrome chromosome region 22 nucleus methyltransferase activity autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1) 13 Lung NSC(55;0.0908)|all_lung(88;0.198) GAATTTGGGGGTGCGGGAAGG 0.612000 5 27 0 0 1 0 0 SLC22A10 387775 broad.mit.edu 37 11 63064875 63064875 + Missense_Mutation SNP C C T TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr11:63064875C>T ENST00000544661.1 + 4 570 c.142C>T c.(142-144)Cgc>Tgc p.R48C SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000535888.1_5'UTR|SLC22A10_ENST00000332793.6_Missense_Mutation_p.R203C Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 203 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CTGTGTACTACGCTTCTTGGC 0.408000 4 130 0 0 1 0 0 AQP4 361 broad.mit.edu 37 18 24442317 24442317 + Silent SNP G G A TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr18:24442317G>A ENST00000383168.4 - 2 404 c.276C>T c.(274-276)agC>agT p.S92S AQP4_ENST00000440832.3_Silent_p.S70S|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000581374.1_Silent_p.S70S NM_001650.4|NM_004028.3 NP_001641.1|NP_004019.1 P55087 AQP4_HUMAN aquaporin 4 92 cellular response to interferon-gamma|excretion|nervous system development cytoplasm|external side of plasma membrane|integral to plasma membrane water channel activity kidney(2)|large_intestine(3)|lung(5)|skin(1) 11 all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124) TGTGGCCACCGCTGATATGGC 0.557000 5 130 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32589897 32589897 + Missense_Mutation SNP T T C TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr21:32589897T>C ENST00000286827.3 - 10 2585 c.2114A>G c.(2113-2115)aAg>aGg p.K705R TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.K705R NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 705 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 TCCCTGCTTCTTTTTGGAGGT 0.522000 84 91 0 0 1 0 0 FAM83D 81610 broad.mit.edu 37 20 37580213 37580213 + Missense_Mutation SNP A A C TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr20:37580213A>C ENST00000217429.4 + 4 939 c.898A>C c.(898-900)Agt>Cgt p.S300R NM_030919.2 NP_112181.2 Q9H4H8 FA83D_HUMAN family with sequence similarity 83, member D 270 cell division|mitosis cytoplasm|spindle pole endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) ATTAAACAGCAGTAACTTGGT 0.428000 4 75 0 0 1 0 0 NAGPA 51172 broad.mit.edu 37 16 5081777 5081777 + Silent SNP T T C TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr16:5081777T>C ENST00000312251.3 - 3 670 c.651A>G c.(649-651)caA>caG p.Q217Q NAGPA_ENST00000381955.3_Silent_p.Q217Q|RP11-165E7.1_ENST00000588778.1_RNA NM_016256.3 NP_057340.2 Q9UK23 NAGPA_HUMAN N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase 217 carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome Golgi cisterna membrane|integral to membrane N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1) 12 N-Acetyl-D-glucosamine(DB00141) ACTCTGTGGCTTGGCTCTCGT 0.572000 147 222 0 0 1 0 0 KRTAP10-8 386681 broad.mit.edu 37 21 46032410 46032410 + Silent SNP C C T TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr21:46032410C>T ENST00000334662.2 + 1 415 c.393C>T c.(391-393)ccC>ccT p.P131P TSPEAR_ENST00000323084.4_Intron NM_198695.2 NP_941968.2 P60410 KR108_HUMAN keratin associated protein 10-8 131 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 GCTGCAAGCCCGTGTGCTGCG 0.632000 6 272 0 0 1 0 0 TTK 7272 broad.mit.edu 37 6 80751897 80751897 + Frame_Shift_Del DEL A A - TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr6:80751897delA ENST00000509894.1 + 22 3378 c.2549delA c.(2548-2550)gafs p.E850fs TTK_ENST00000230510.3_Frame_Shift_Del_p.E850fs|TTK_ENST00000369798.2_Frame_Shift_Del_p.E851fs P33981 TTK_HUMAN TTK protein kinase 851 mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1) endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) AAGACTTTTGAAAAAAAAAGG 0.299 7 114 --- --- --- --- ZNF292 23036 broad.mit.edu 37 6 87968456 87968457 + Frame_Shift_Del DEL AG AG - TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr6:87968456_87968457delAG ENST00000369577.3 + 8 5152_5153 c.5109_5110delAG c.(5107-5112)aaagfs p.KE1703fs ZNF292_ENST00000339907.4_Frame_Shift_Del_p.KE1698fs NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 1703 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) CTGATGTAAAAGAGAATTTCAA 0.327 12 31 --- --- --- --- C6orf58 352999 broad.mit.edu 37 6 127911321 127911321 + Frame_Shift_Del DEL C C - TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr6:127911321delC ENST00000329722.7 + 5 776 c.764delC c.(763-765)acfs p.T255fs NM_001010905.1 NP_001010905.1 Q6P5S2 CF058_HUMAN chromosome 6 open reading frame 58 255 extracellular region kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1) 15 GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156) TTTCCTACAACCTTGATTAGA 0.388 7 190 --- --- --- --- POLR2J4 0 broad.mit.edu 37 7 44056176 44056177 + RNA DEL CT CT - TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr7:44056176_44056177delCT ENST00000427076.1 - 0 89 NR_003655.2 TCCTCCCACCCTGAGTCTAAAC 0.559 5 8 --- --- --- --- OR2A14 135941 broad.mit.edu 37 7 143826799 143826799 + Frame_Shift_Del DEL C C - TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr7:143826799delC ENST00000408899.2 + 1 649 c.594delC c.(592-594)atfs p.I198fs NM_001001659.1 NP_001001659.1 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, member 14 198 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) AGGTGGTCATCTTTGCAGCCT 0.577 184 245 --- --- --- --- GOT1L1 137362 broad.mit.edu 37 8 37791833 37791834 + Frame_Shift_Ins INS - - T TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr8:37791833_37791834insT ENST00000307599.4 - 9 1342_1343 c.1243_1244insA c.(1243-1245)actfs p.T415fs NM_152413.2 NP_689626.2 Q8NHS2 AATC2_HUMAN glutamic-oxaloacetic transaminase 1-like 1 415 biosynthetic process|cellular amino acid metabolic process cytoplasm pyridoxal phosphate binding|transaminase activity central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1) 14 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;1.37e-11) TCCAATCAGTGTTTTTTTTTCC 0.371 8 94 --- --- --- --- FNBP4 23360 broad.mit.edu 37 11 47788664 47788669 + In_Frame_Del DEL GGTGGT GGTGGT - rs59413596 TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr11:47788664_47788669delGGTGGT ENST00000263773.5 - 1 184_189 c.172_177delACCACC c.(172-177)del p.TT58del FNBP4_ENST00000534003.1_5'UTR NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 58 p.T58_T59delTT(3) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 CAGTCACCGCGGTGGTGGTGGTCGTC 0.748 5 3 --- --- --- --- GSE1 23199 broad.mit.edu 37 16 85682290 85682290 + Frame_Shift_Del DEL C C - TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr16:85682290delC ENST00000253458.7 + 3 535 c.359delC c.(358-360)acfs p.T120fs GSE1_ENST00000393243.1_Frame_Shift_Del_p.T47fs|GSE1_ENST00000405402.2_Frame_Shift_Del_p.T16fs NM_014615.2 NP_055430.1 Gse1 coiled-coil protein p.V123fs*2(1) GTGCCCAGCACCCCCCCCGTG 0.687 9 213 --- --- --- --- DDX5 1655 broad.mit.edu 37 17 62500099 62500102 + Splice_Site DEL ACAG ACAG - TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx e34b8386-87a8-421b-a6bd-508c451d5300 4172944b-df65-47bc-8567-9748e088836a g.chr17:62500099_62500102delACAG ENST00000225792.5 - 4 841_843 c.441_splice c.e4+1 p.L149_splice DDX5_ENST00000450599.2_Intron|DDX5_ENST00000578804.1_Splice_Site_p.L149_splice NM_004396.3 NP_004387.1 P17844 DDX5_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 5 149 Helicase ATP-binding. cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 19 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) TCCCAAACTTACAGACAATGTTTT 0.397 T ETV4 prostate 118 248 --- --- --- ---