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 PADI1 29943 broad.mit.edu 37 1 17548858 17548858 + Missense_Mutation SNP C C T rs142259163 TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr1:17548858C>T ENST00000375471.4 + 2 258 c.166C>T c.(166-168)Cgc>Tgc p.R56C NM_013358.2 NP_037490.2 Q9ULC6 PADI1_HUMAN peptidyl arginine deiminase, type I 56 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity p.R56C(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) GGTCTACAACCGCACACGTGT 0.552000 7 62 0 0 1 0 0 KIF16B 55614 broad.mit.edu 37 20 16387071 16387071 + Missense_Mutation SNP A A T TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr20:16387071A>T ENST00000354981.2 - 16 1800 c.1643T>A c.(1642-1644)aTg>aAg p.M548K KIF16B_ENST00000408042.1_Missense_Mutation_p.M548K|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.M548K NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 548 cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 AAAGCGAAACATATTGGTTCT 0.468000 61 83 0 0 1 0 0 SLC5A1 6523 broad.mit.edu 37 22 32487699 32487699 + Silent SNP C C T TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr22:32487699C>T ENST00000266088.4 + 11 1480 c.1230C>T c.(1228-1230)taC>taT p.Y410Y SLC5A1_ENST00000543737.1_Silent_p.Y283Y NM_000343.3 NP_000334.1 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 1 410 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 TGGACATCTACGCCAAGGTCC 0.537000 5 119 0 0 1 0 0 IGBP1 3476 broad.mit.edu 37 X 69370131 69370131 + Missense_Mutation SNP A A G TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chrX:69370131A>G ENST00000342206.6 + 5 1329 c.830A>G c.(829-831)tAt>tGt p.Y277C IGBP1_ENST00000356413.4_Missense_Mutation_p.Y277C P78318 IGBP1_HUMAN immunoglobulin (CD79A) binding protein 1 277 B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction cytoplasm protein phosphatase type 2A regulator activity kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2) 11 CATCGGAAATATGGAGCATTA 0.458000 7 20 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 4 131 0 0 1 0 0 MLPH 79083 broad.mit.edu 37 2 238419718 238419718 + Missense_Mutation SNP C C T TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr2:238419718C>T ENST00000264605.3 + 4 713 c.419C>T c.(418-420)tCc>tTc p.S140F MLPH_ENST00000445024.2_Missense_Mutation_p.S140F|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000410032.1_Missense_Mutation_p.S140F|MLPH_ENST00000409373.1_Missense_Mutation_p.S140F|MLPH_ENST00000338530.4_Missense_Mutation_p.S140F NM_024101.5 NP_077006.1 Q9BV36 MELPH_HUMAN melanophilin 140 metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 25 Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203) Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316) GTCATCCGGTCCCTCCACGGG 0.532000 31 208 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109380084 109380084 + Missense_Mutation SNP C C A TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr2:109380084C>A ENST00000283195.6 + 20 3215 c.3089C>A c.(3088-3090)cCt>cAt p.P1030H NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 1030 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 CAGCCAACTCCTTTTAAATTT 0.423000 4 175 0.00909568 0.00909568 1 1 0 HS6ST3 266722 broad.mit.edu 37 13 97485206 97485206 + Silent SNP C C T TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr13:97485206C>T ENST00000376705.2 + 2 1194 c.1170C>T c.(1168-1170)aaC>aaT p.N390N NM_153456.3 NP_703157.2 Q8IZP7 H6ST3_HUMAN heparan sulfate 6-O-sulfotransferase 3 390 integral to membrane sulfotransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_neural(89;0.0878)|Medulloblastoma(90;0.163) TGGAGATCAACGAGGGTGCCC 0.498000 7 100 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42791808 42791808 + Missense_Mutation SNP A A G TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr19:42791808A>G ENST00000572681.2 + 6 3489 c.3421A>G c.(3421-3423)Aag>Gag p.K1141E CIC_ENST00000575354.2_Missense_Mutation_p.K232E|CIC_ENST00000160740.3_Missense_Mutation_p.K232E Q96RK0 CIC_HUMAN capicua transcriptional repressor 232 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GACCGTCAGCAAGATCCTGGG 0.622000 """Mis, F, S""" oligodendroglioma 36 8 0 0 1 0 0 PTGR1 22949 broad.mit.edu 37 9 114337092 114337092 + Missense_Mutation SNP C C T rs146199919 byFrequency TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr9:114337092C>T ENST00000407693.2 - 8 944 c.682G>A c.(682-684)Ggc>Agc p.G228S PTGR1_ENST00000238248.3_Missense_Mutation_p.G105S|PTGR1_ENST00000309195.5_Missense_Mutation_p.G228S|ZNF483_ENST00000358151.4_Intron|RP11-16L21.7_ENST00000450154.1_RNA|PTGR1_ENST00000538962.1_Missense_Mutation_p.G228S NM_001146108.1 NP_001139580.1 Q14914 PTGR1_HUMAN prostaglandin reductase 1 228 leukotriene metabolic process cytoplasm 15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding endometrium(2)|large_intestine(5)|lung(3)|ovary(1) 11 TTCATCTGGCCGATAACAGTG 0.403000 9 77 0 0 1 0 0 CXCR4 0 broad.mit.edu 37 2 136873410 136873410 + Missense_Mutation SNP G G A TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr2:136873410G>A ENST00000409817.1 - 1 403 c.100C>T c.(100-102)Cgt>Tgt p.R34C CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000241393.3_Missense_Mutation_p.R30C NM_001008540.1 NP_001008540.1 P61073 CXCR4_HUMAN chemokine (C-X-C motif) receptor 4 30 activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.155) Framycetin(DB00452) TTTTCTTCACGGAAACAGGGT 0.433000 56 40 0 0 1 0 0 KIF6 221458 broad.mit.edu 37 6 39507890 39507890 + Missense_Mutation SNP G G A TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr6:39507890G>A ENST00000287152.7 - 13 1628 c.1534C>T c.(1534-1536)Cgc>Tgc p.R512C KIF6_ENST00000373216.3_Missense_Mutation_p.R512C|KIF6_ENST00000373215.3_Missense_Mutation_p.R512C|KIF6_ENST00000373213.4_Missense_Mutation_p.R351C|KIF6_ENST00000538893.1_Intron NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 512 R -> H (in dbSNP:rs2273063). microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 TTTCCTAGGCGGAAGGGTGGG 0.498000 72 108 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 64067698 64067698 + Missense_Mutation SNP A A G TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr15:64067698A>G ENST00000443617.2 - 2 212 c.125T>C c.(124-126)gTt>gCt p.V42A NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 42 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 CTTATTGCTAACCAGTTTAGA 0.433000 4 109 0 0 1 0 0 PML 5371 broad.mit.edu 37 15 74328199 74328199 + Silent SNP T T C TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr15:74328199T>C ENST00000268059.6 + 8 2493 c.2397T>C c.(2395-2397)ccT>ccC p.P799P PML_ENST00000565898.1_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000354026.6_Silent_p.P751P|PML_ENST00000435786.2_3'UTR|PML_ENST00000395132.2_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000268058.3_Intron|PML_ENST00000569965.1_Intron NM_033239.2|NM_033244.3 NP_150242.1|NP_150247.2 P29590 PML_HUMAN promyelocytic leukemia 89 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 TCCAAGTGCCTCTGGAAGCCT 0.627000 T """RARA, PAX5""" """APL, ALL""" 6 171 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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 33 55 0 0 1 0 0 RSRC1 51319 broad.mit.edu 37 3 157920909 157920909 + Missense_Mutation SNP G G C TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr3:157920909G>C ENST00000295930.3 + 4 531 c.369G>C c.(367-369)agG>agC p.R123S RSRC1_ENST00000475278.2_Missense_Mutation_p.R123S|RSRC1_ENST00000480820.1_Missense_Mutation_p.R123S|RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000464171.1_Intron NM_001271838.1|NM_016625.2 NP_001258767.1|NP_057709.2 Q96IZ7 RSRC1_HUMAN arginine/serine-rich coiled-coil 1 123 Arg/Ser-rich. nucleocytoplasmic transport cytoplasm|nuclear speck protein binding cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 18 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) GCAGTGAAAGGTCCAGTCACA 0.433000 8 18 0 0 1 0 0 CYP46A1 10858 broad.mit.edu 37 14 100166434 100166434 + Missense_Mutation SNP C C T TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr14:100166434C>T ENST00000261835.3 + 5 543 c.439C>T c.(439-441)Cgg>Tgg p.R147W CYP46A1_ENST00000423126.2_Missense_Mutation_p.R50W NM_006668.1 NP_006659.1 Q9Y6A2 CP46A_HUMAN cytochrome P450, family 46, subfamily A, polypeptide 1 147 bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1) 25 Melanoma(154;0.0866)|all_epithelial(191;0.179) GGCCTTCAGCCGGAGGTGAGT 0.627000 5 13 0 0 1 0 0 ATXN2 6311 broad.mit.edu 37 12 111895132 111895132 + Silent SNP C C T TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr12:111895132C>T ENST00000377617.3 - 22 3563 c.3402G>A c.(3400-3402)gcG>gcA p.A1134A ATXN2_ENST00000542287.2_Silent_p.A869A|ATXN2_ENST00000535949.1_Silent_p.A827A|ATXN2_ENST00000389153.4_Silent_p.A871A|ATXN2_ENST00000550104.1_3'UTR NM_002973.3 NP_002964.3 Q99700 ATX2_HUMAN ataxin 2 1134 cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 CGTTAGGGTGCGCATACTGCT 0.537000 8 45 0 0 1 0 0 GPR125 166647 broad.mit.edu 37 4 22390464 22390464 + Missense_Mutation SNP T T C TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr4:22390464T>C ENST00000334304.5 - 19 3099 c.2830A>G c.(2830-2832)Aga>Gga p.R944G GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 944 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) TCAGGGTGTCTTTTCAACTGA 0.458000 66 82 0 0 1 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119133649 119133649 + Missense_Mutation SNP A A G TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr3:119133649A>G ENST00000264245.4 + 12 3405 c.2873A>G c.(2872-2874)aAa>aGa p.K958R NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 958 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 CTAGATAGCAAACCCACGGTT 0.567000 88 120 0 0 1 0 0 MAP2K6 5608 broad.mit.edu 37 17 67501928 67501928 + Silent SNP G G A TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr17:67501928G>A ENST00000590474.1 + 2 311 c.24G>A c.(22-24)aaG>aaA p.K8K MAP2K6_ENST00000589647.1_5'UTR NM_002758.3 NP_002749.2 P52564 MP2K6_HUMAN mitogen-activated protein kinase kinase 6 8 activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 20 Breast(10;6.05e-10) TAGGCAAGAAGCGAAACCCTG 0.433000 10 146 0 0 1 0 0 EIF3B 8662 broad.mit.edu 37 7 2403386 2403386 + Silent SNP A A G TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr7:2403386A>G ENST00000360876.4 + 5 1046 c.990A>G c.(988-990)gaA>gaG p.E330E EIF3B_ENST00000397011.2_Silent_p.E330E NM_001037283.1 NP_001032360.1 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, subunit B 330 Sufficient for interaction with EIF3E. regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 24 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) TCTCAATTGAAGAAAGAGCGG 0.448000 39 31 0 0 1 0 0 OR4S2 219431 broad.mit.edu 37 11 55419211 55419211 + Missense_Mutation SNP C C G TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr11:55419211C>G ENST00000312422.2 + 1 832 c.832C>G c.(832-834)Ccc>Gcc p.P278A NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 278 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) CATTATCACTCCCATGTTAAA 0.408000 5 334 0 0 1 0 0 VPS36 51028 broad.mit.edu 37 13 52991270 52991270 + Silent SNP A A T TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr13:52991270A>T ENST00000378060.4 - 12 939 c.912T>A c.(910-912)cgT>cgA p.R304R NM_016075.2 NP_057159.2 Q86VN1 VPS36_HUMAN vacuolar protein sorting 36 homolog (S. cerevisiae) 304 cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|late endosome|membrane|nucleus lipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 17 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.14e-08) TGTCAAACACACGGAGCCTGA 0.468000 29 37 0 0 1 0 0 MEP1A 4224 broad.mit.edu 37 6 46766355 46766355 + Missense_Mutation SNP A A T TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr6:46766355A>T ENST00000230588.4 + 4 167 c.158A>T c.(157-159)gAc>gTc p.D53V NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 53 digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) GCAGGCTTGGACCTCTTTCAA 0.398000 34 53 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74003439 74003439 + Missense_Mutation SNP C C A TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr17:74003439C>A ENST00000301607.3 - 22 6100 c.5847G>T c.(5845-5847)agG>agT p.R1949S EVPL_ENST00000586740.1_Missense_Mutation_p.R1971S NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1949 Globular 2. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 TGCGGCCTGTCCTCTTGGGGT 0.662000 39 49 2.75727e-19 2.82292e-19 1 1 0 NCOA3 8202 broad.mit.edu 37 20 46279860 46279860 + Silent SNP G G A rs151060280 byFrequency TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db 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 5 68 0 0 1 0 0 GDPGP1 390637 broad.mit.edu 37 15 90784550 90784550 + Missense_Mutation SNP G G A rs143773020 byFrequency TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr15:90784550G>A ENST00000558017.1 + 4 830 c.410G>A c.(409-411)cGt>cAt p.R137H GDPGP1_ENST00000329600.6_Missense_Mutation_p.R137H NM_001013657.2 NP_001013679.2 Q6ZNW5 VTC2_HUMAN GDP-D-glucose phosphorylase 1 137 glucose metabolic process cytoplasm GDP-D-glucose phosphorylase activity GTCCTCTTCCGTTTGCACCGG 0.597000 8 147 0 0 1 0 0 CYP39A1 51302 broad.mit.edu 37 6 46555791 46555791 + Missense_Mutation SNP C C T TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr6:46555791C>T ENST00000275016.2 - 9 1344 c.1141G>A c.(1141-1143)Gag>Aag p.E381K NM_016593.3 NP_057677.2 Q9NYL5 CP39A_HUMAN cytochrome P450, family 39, subfamily A, polypeptide 1 381 bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity EIF3K/CYP39A1(2) NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2) 21 AATTCAGGCTCAGGAAAATAC 0.299000 30 44 0 0 1 0 0 USP26 83844 broad.mit.edu 37 X 132160495 132160495 + Missense_Mutation SNP C C G TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chrX:132160495C>G ENST00000511190.1 - 6 2223 c.1754G>C c.(1753-1755)aGt>aCt p.S585T USP26_ENST00000370832.1_Missense_Mutation_p.S585T|USP26_ENST00000406273.1_Missense_Mutation_p.S585T NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 585 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) CCATGATACACTGATGTTTCC 0.398000 52 5 0 0 1 0 0 CCL11 6356 broad.mit.edu 37 17 32614693 32614693 + Missense_Mutation SNP C C T TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr17:32614693C>T ENST00000305869.3 + 3 419 c.278C>T c.(277-279)cCa>cTa p.P93L NM_002986.2 NP_002977.1 P51671 CCL11_HUMAN chemokine (C-C motif) ligand 11 93 cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|protein phosphorylation|response to radiation|response to virus|signal transduction extracellular space chemokine activity breast(1)|lung(1)|prostate(1) 3 Breast(3;0.00224) Breast(31;0.151)|Ovarian(249;0.17) BRCA - Breast invasive adenocarcinoma(366;0.155) CAAAAATCTCCAACTCCAAAG 0.438000 12 27 0 0 1 0 0 SLC4A7 9497 broad.mit.edu 37 3 27427493 27427493 + Missense_Mutation SNP G G A TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr3:27427493G>A ENST00000295736.5 - 23 3425 c.3355C>T c.(3355-3357)Cgc>Tgc p.R1119C SLC4A7_ENST00000437179.1_Missense_Mutation_p.R1000C|SLC4A7_ENST00000446700.1_Missense_Mutation_p.R1111C|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000435667.2_Missense_Mutation_p.R1004C|SLC4A7_ENST00000454389.1_Missense_Mutation_p.R1128C|SLC4A7_ENST00000388777.4_Missense_Mutation_p.R669C|SLC4A7_ENST00000455077.1_Missense_Mutation_p.R1000C|SLC4A7_ENST00000440156.1_Missense_Mutation_p.R1115C|SLC4A7_ENST00000445684.1_Missense_Mutation_p.R1115C|SLC4A7_ENST00000428386.1_Missense_Mutation_p.R995C NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 1119 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity p.R1119C(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 ATGAGTTTGCGCACAAACACT 0.328000 4 170 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10546191 10546191 + Missense_Mutation SNP G G T TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr17:10546191G>T ENST00000583535.1 - 15 1620 c.1533C>A c.(1531-1533)ttC>ttA p.F511L MYH3_ENST00000226209.7_Missense_Mutation_p.F511L NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 511 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 CGAAGTCAATGAACGTCCACT 0.502000 87 132 3.26951e-42 3.429e-42 1 1 0 ITGA4 3676 broad.mit.edu 37 2 182347308 182347308 + Missense_Mutation SNP T T C TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr2:182347308T>C ENST00000397033.2 + 9 1401 c.971T>C c.(970-972)cTc>cCc p.L324P NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 324 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) TCAGATCTGCTCGTGGGAGCA 0.512000 11 206 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 5 37 0 0 1 0 0 GRIK5 2901 broad.mit.edu 37 19 42507582 42507582 + Missense_Mutation SNP C C T TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr19:42507582C>T ENST00000262895.3 - 18 2415 c.2416G>A c.(2416-2418)Ggc>Agc p.G806S GRIK5_ENST00000593562.1_Missense_Mutation_p.G806S|GRIK5_ENST00000301218.4_Missense_Mutation_p.G806S NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 806 cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 35 Prostate(69;0.059) L-Glutamic Acid(DB00142) ATAAAAATGCCACCAATGTTC 0.577000 28 4 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 4 73 0 0 1 0 0 NEFM 4741 broad.mit.edu 37 8 24774809 24774809 + Missense_Mutation SNP G G A TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr8:24774809G>A ENST00000221166.5 + 3 2223 c.1441G>A c.(1441-1443)Gcc>Acc p.A481T NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Missense_Mutation_p.A481T|NEFM_ENST00000433454.2_Missense_Mutation_p.A105T|NEFM_ENST00000518131.1_Missense_Mutation_p.A481T P07197 NFM_HUMAN neurofilament, medium polypeptide 481 Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) AGAGGAATTGGCCGTTTCCAT 0.458000 23 18 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128493774 128493774 + Missense_Mutation SNP C C T TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr7:128493774C>T ENST00000325888.8 + 39 6628 c.6367C>T c.(6367-6369)Ccc>Tcc p.P2123S FLNC_ENST00000346177.6_Missense_Mutation_p.P2090S|RP11-309L24.2_ENST00000469965.1_RNA NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 2123 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TTCAGGAAGCCCCTTCACTGT 0.642000 27 26 0 0 1 0 0 FUBP1 8880 broad.mit.edu 37 1 78425906 78425907 + Frame_Shift_Del DEL TG TG - rs145571406 TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr1:78425906_78425907delTG ENST00000370767.1 - 16 1625_1626 c.1538_1539delCA c.(1537-1539)gfs p.A513fs FUBP1_ENST00000370768.2_Frame_Shift_Del_p.A513fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.A534fs Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 513 Pro-rich. transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 AGTGTGGATATGCATTTCCCCA 0.431 """F, N""" oligodendroglioma 23 8 --- --- --- --- KIAA0907 22889 broad.mit.edu 37 1 155886422 155886423 + Frame_Shift_Del DEL CT CT - TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr1:155886422_155886423delCT ENST00000368320.3 - 12 1571_1572 c.1546_1547delAG c.(1546-1548)gfs p.R516fs KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs Q7Z7F0 K0907_HUMAN KIAA0907 516 p.R516fs*21(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) TTACCTGTCCCTCTCTCTCTCT 0.396 7 181 --- --- --- --- TAF1B 9014 broad.mit.edu 37 2 9989570 9989571 + Frame_Shift_Ins INS - - A TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr2:9989570_9989571insA ENST00000263663.5 + 3 374_375 c.186_187insA c.(184-189)ctaaaafs p.LK62fs TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR NM_005680.2 NP_005671.2 Q53T94 TAF1B_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa 62 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity p.K63fs*1(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) ACCGGGGGCTTAAAAAAAAAAA 0.337 20 44 --- --- --- --- DLX2 1746 broad.mit.edu 37 2 172967128 172967129 + In_Frame_Ins INS - - GCT TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr2:172967128_172967129insGCT ENST00000234198.4 - 1 499_500 c.138_139insAGC c.(136-141)agtcca>agAGCtcca p.46_46S>RA DLX2_ENST00000466293.2_In_Frame_Ins_p.46_46S>RA NM_004405.3 NP_004396.1 Q07687 DLX2_HUMAN distal-less homeobox 2 46 Poly-Ser. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.216) GGCTTGTGGAGgctgctgctgc 0.738 3 4 --- --- --- --- RBM33 155435 broad.mit.edu 37 7 155531073 155531074 + Frame_Shift_Del DEL CA CA - TCGA-VM-A8CB-01A-11D-A36O-08 TCGA-VM-A8CB-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25c0282-4c24-40bd-afdf-7a1e22a2e010 501724d7-f323-41b0-a4d2-41dfd3e141db g.chr7:155531073_155531074delCA ENST00000401878.3 + 11 1911_1912 c.1713_1714delCA c.(1711-1716)cccafs p.PT571fs NM_053043.2 NP_444271.2 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 571 Pro-rich. nucleotide binding|RNA binding breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) CGTTTCTGCCCACACACACACA 0.530 7 73 --- --- --- ---