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 KRTAP4-6 81871 broad.mit.edu 37 17 39296254 39296254 + Silent SNP C C G rs72483263 by1000genomes TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr17:39296254C>G ENST00000345847.4 - 1 485 c.486G>C c.(484-486)ccG>ccC p.P162P NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 158 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 ggcagcagcacgggcggcagc 0.662000 3 30 0 0 1 0 0 OR4A5 81318 broad.mit.edu 37 11 51411626 51411626 + Missense_Mutation SNP C C G TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr11:51411626C>G ENST00000319760.6 - 1 822 c.770G>C c.(769-771)aGa>aCa p.R257T NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) TGAAACAGGTCTAACATATAT 0.388000 47 70 0 0 1 0 0 SUMF1 285362 broad.mit.edu 37 3 4452611 4452611 + Missense_Mutation SNP C C T TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr3:4452611C>T ENST00000272902.5 - 7 927 c.892G>A c.(892-894)Gca>Aca p.A298T SUMF1_ENST00000383843.5_Missense_Mutation_p.A273T|SUMF1_ENST00000458465.2_Missense_Mutation_p.A166T|SUMF1_ENST00000405420.2_Missense_Mutation_p.A298T|SUMF1_ENST00000534863.1_Missense_Mutation_p.A298T NM_182760.3 NP_877437.2 Q8NBK3 SUMF1_HUMAN sulfatase modifying factor 1 298 endoplasmic reticulum lumen metal ion binding|oxidoreductase activity breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3) 13 Melanoma(143;0.068)|Colorectal(144;0.233) Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549) CATTCCCATGCGTTCCCCACT 0.423000 10 268 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15448386 15448386 + Missense_Mutation SNP G G A TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr2:15448386G>A ENST00000281513.5 - 40 4776 c.4751C>T c.(4750-4752)gCc>gTc p.A1584V NBAS_ENST00000441750.1_Missense_Mutation_p.A1464V NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 1584 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 GGCCAATCGGGCATAGATCTG 0.473000 4 113 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137591840 137591840 + Silent SNP C C T TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr9:137591840C>T ENST00000371817.3 + 3 777 c.363C>T c.(361-363)aaC>aaT p.N121N COL5A1_ENST00000464187.1_3'UTR NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 121 Laminin G-like.|TSP N-terminal. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CCATCTACAACGAGCAGGGTA 0.587000 47 84 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179605461 179605461 + Missense_Mutation SNP G G C TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr2:179605461G>C ENST00000589042.1 - 48 12723 c.12499C>G c.(12499-12501)Cta>Gta p.L4167V TTN_ENST00000342175.6_Missense_Mutation_p.L3996V|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L3804V|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.L3929V|TTN_ENST00000591111.1_Missense_Mutation_p.L3850V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3850 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCAGGCATTAGAATACCTTCT 0.428000 46 119 0 0 1 0 0 KLHL2 11275 broad.mit.edu 37 4 166239115 166239115 + Missense_Mutation SNP T T G TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr4:166239115T>G ENST00000226725.6 + 14 2006 c.1747T>G c.(1747-1749)Tat>Gat p.Y583D KLHL2_ENST00000506761.1_Missense_Mutation_p.Y417D|KLHL2_ENST00000514860.1_Missense_Mutation_p.Y587D|KLHL2_ENST00000538127.1_Missense_Mutation_p.Y495D|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000421009.2_Missense_Mutation_p.Y486D NM_007246.3 NP_009177.3 O95198 KLHL2_HUMAN kelch-like family member 2 583 intracellular protein transport actin cytoskeleton|cytoplasm actin binding|transporter activity endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1) 14 all_hematologic(180;0.221) GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927) AGGGAGAAGTTATGCAGGTAA 0.368000 44 57 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27804618 27804618 + Missense_Mutation SNP C C T TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr2:27804618C>T ENST00000408964.2 + 1 5230 c.5179C>T c.(5179-5181)Cgc>Tgc p.R1727C NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1727 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) GAGGAGCCATCGCAGTCCCTC 0.562000 216 259 0 0 1 0 0 STAT3 6774 broad.mit.edu 37 17 40498723 40498723 + Missense_Mutation SNP G G A TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr17:40498723G>A ENST00000264657.5 - 3 449 c.137C>T c.(136-138)gCg>gTg p.A46V STAT3_ENST00000404395.3_Missense_Mutation_p.A46V|STAT3_ENST00000585517.1_Missense_Mutation_p.A46V|STAT3_ENST00000389272.3_5'UTR|STAT3_ENST00000588969.1_Missense_Mutation_p.A46V NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 46 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding p.A46V(2) breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) TTTGCTGGCCGCATATGCCCT 0.433000 Hyperimmunoglobulin E Recurrent Infection Syndrome 6 494 0 0 1 0 0 PPARA 5465 broad.mit.edu 37 22 46627789 46627789 + Missense_Mutation SNP G G A TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr22:46627789G>A ENST00000396000.2 + 7 1077 c.812G>A c.(811-813)cGc>cAc p.R271H PPARA_ENST00000407236.1_Missense_Mutation_p.R271H|PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000402126.1_Missense_Mutation_p.R271H|PPARA_ENST00000262735.5_Missense_Mutation_p.R271H Q07869 PPARA_HUMAN peroxisome proliferator-activated receptor alpha 271 fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 15 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00522) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641) GCGGAGGTCCGCATCTTTCAC 0.557000 4 112 0 0 1 0 0 G2E3 55632 broad.mit.edu 37 14 31074772 31074772 + Nonsense_Mutation SNP A A T TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr14:31074772A>T ENST00000206595.6 + 11 1226 c.1072A>T c.(1072-1074)Aaa>Taa p.K358* G2E3_ENST00000553504.1_Nonsense_Mutation_p.K388*|G2E3_ENST00000544007.1_Intron|G2E3_ENST00000438909.2_Nonsense_Mutation_p.K312* NM_017769.3 NP_060239.2 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin protein ligase 358 apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 ATTCCAAATTAAAAAAAAAAC 0.274000 22 35 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118373222 118373222 + Silent SNP C C G TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr11:118373222C>G ENST00000534358.1 + 27 6638 c.6615C>G c.(6613-6615)ccC>ccG p.P2205P KMT2A_ENST00000354520.4_Silent_p.P2164P|KMT2A_ENST00000389506.5_Silent_p.P2202P NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A CCTTATCACCCCAGCGGTCCA 0.498000 4 130 0 0 1 0 0 RP11-3P17.4 0 broad.mit.edu 37 3 161147301 161147301 + RNA SNP A A G TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr3:161147301A>G ENST00000473595.1 + 0 1350 RP11-3P17.5_ENST00000602890.1_lincRNA NR_102265.1 ACACCTTTCAACACTGCCTTC 0.552000 5 161 0 0 1 0 0 TRIM49C 642612 broad.mit.edu 37 11 89774252 89774252 + Missense_Mutation SNP G G A rs145791878 by1000genomes TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr11:89774252G>A ENST00000448984.1 + 8 1222 c.893G>A c.(892-894)aGt>aAt p.S298N TRIM49C_ENST00000432771.1_Intron NM_001195234.1 NP_001182163.1 P0CI26 T49L2_HUMAN tripartite motif containing 49C 298 B30.2/SPRY. intracellular zinc ion binding p.S298N(4) endometrium(3)|kidney(1)|lung(4) 8 GAAGCCAACAGTGATATCTTT 0.323000 5 83 0 0 1 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94651006 94651006 + Silent SNP T T G TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr1:94651006T>G ENST00000260526.6 - 17 1994 c.1812A>C c.(1810-1812)acA>acC p.T604T ARHGAP29_ENST00000482481.1_5'UTR NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 604 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TTGACATCAATGTTTTCTTAA 0.348000 36 92 0 0 1 0 0 GPER 0 broad.mit.edu 37 7 1131651 1131651 + Missense_Mutation SNP T T C TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr7:1131651T>C ENST00000397092.1 + 3 1171 c.287T>C c.(286-288)cTg>cCg p.L96P C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000397098.3_Intron|GPER_ENST00000397088.3_Missense_Mutation_p.L96P|GPER_ENST00000297469.3_Missense_Mutation_p.L96P|C7orf50_ENST00000488073.1_Intron|GPER_ENST00000401670.1_Missense_Mutation_p.L96P NM_001039966.1 NP_001035055.1 Q99527 GPER_HUMAN 96 endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 13 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16) ATCCCCGACCTGTACTTCATC 0.577000 39 65 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76909614 76909614 + Nonsense_Mutation SNP G G A TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chrX:76909614G>A ENST00000373344.5 - 14 4505 c.4291C>T c.(4291-4293)Caa>Taa p.Q1431* ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.Q1393* NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1431 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) GAATCTTCTTGAACCTTAATA 0.353000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 113 18 0 0 1 0 0 ZNF878 729747 broad.mit.edu 37 19 12155757 12155757 + Missense_Mutation SNP C C A TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr19:12155757C>A ENST00000602107.1 - 5 599 c.600G>T c.(598-600)agG>agT p.R200S ZNF878_ENST00000547628.1_Missense_Mutation_p.R153S|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA C9JN71 ZN878_HUMAN zinc finger protein 878 153 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 AACTGGGAAACCTGAATGCTT 0.423000 5 356 0.000602214 0.000612597 1 1 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G C rs121913499 TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr2:209113113G>C ENST00000415913.1 - 4 775 c.394C>G c.(394-396)Cgt>Ggt p.R132G IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G 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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 61 102 0 0 1 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85623368 85623368 + Silent SNP C C T TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr12:85623368C>T ENST00000393217.2 + 25 4957 c.4896C>T c.(4894-4896)taC>taT p.Y1632Y LRRIQ1_ENST00000528777.3_3'UTR NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1632 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) AATATACATACCAATGGCTTC 0.358000 62 118 0 0 1 0 0 ASNSD1 54529 broad.mit.edu 37 2 190531397 190531397 + Missense_Mutation SNP G G A TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr2:190531397G>A ENST00000260952.4 + 4 952 c.539G>A c.(538-540)aGa>aAa p.R180K ASNSD1_ENST00000607062.1_Intron NM_019048.2 NP_061921.1 Q9NWL6 ASND1_HUMAN asparagine synthetase domain containing 1 180 Glutamine amidotransferase type-2. asparagine biosynthetic process|glutamine metabolic process asparagine synthase (glutamine-hydrolyzing) activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3) 25 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118) GGACTTTTCAGAATTGATCTT 0.363000 5 231 0 0 1 0 0 GH2 2689 broad.mit.edu 37 17 61958759 61958759 + Missense_Mutation SNP C C T TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr17:61958759C>T ENST00000332800.7 - 2 264 c.131G>A c.(130-132)cGt>cAt p.R44H GH2_ENST00000449787.2_Missense_Mutation_p.R44H|GH2_ENST00000456543.2_Missense_Mutation_p.R44H|GH2_ENST00000423893.2_Missense_Mutation_p.R44H NM_002059.4|NM_022557.3|NM_022558.3 NP_002050.1|NP_072051.1|NP_072052.1 P01242 SOM2_HUMAN growth hormone 2 44 Missing (in Ref. 6; AA sequence). extracellular region hormone activity breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 24 GTACAGGCGACGGGCGCGGAG 0.572000 6 852 0 0 1 0 0 KLHDC4 54758 broad.mit.edu 37 16 87782360 87782360 + Missense_Mutation SNP G G A TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr16:87782360G>A ENST00000270583.5 - 5 483 c.425C>T c.(424-426)gCc>gTc p.A142V KLHDC4_ENST00000347925.5_Missense_Mutation_p.A142V|KLHDC4_ENST00000353170.5_Missense_Mutation_p.A85V NM_017566.3 NP_060036.2 Q8TBB5 KLDC4_HUMAN kelch domain containing 4 142 breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2) 21 BRCA - Breast invasive adenocarcinoma(80;0.0283) GTTGGGAGAGGCAAACTCCCC 0.547000 5 327 0 0 1 0 0 RAD50 10111 broad.mit.edu 37 5 131915673 131915673 + Missense_Mutation SNP G G A rs28903088 byFrequency TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr5:131915673G>A ENST00000378823.3 + 5 1072 c.254G>A c.(253-255)cGt>cAt p.R85H RAD50_ENST00000265335.6_Missense_Mutation_p.R224H|RAD50_ENST00000487596.1_3'UTR NM_005732.3 NP_005723.2 Q92878 RAD50_HUMAN RAD50 homolog (S. cerevisiae) 224 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGTGAGATTCGTGATCAGATT 0.348000 Homologous recombination 90 192 0 0 1 0 0 TMEM131 23505 broad.mit.edu 37 2 98409857 98409857 + Splice_Site SNP C C G TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr2:98409857C>G ENST00000186436.5 - 30 3774 c.e30+1 NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 TGTGAACATACTTTCCTTCAG 0.403000 4 91 0 0 1 0 0 C4orf19 55286 broad.mit.edu 37 4 37592609 37592609 + Missense_Mutation SNP A A C TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr4:37592609A>C ENST00000284437.6 + 3 1110 c.932A>C c.(931-933)gAt>gCt p.D311A RELL1_ENST00000314117.4_3'UTR|C4orf19_ENST00000381980.4_Missense_Mutation_p.D311A|C4orf19_ENST00000508175.1_Intron NM_018302.2 NP_060772.2 Q8IY42 CD019_HUMAN chromosome 4 open reading frame 19 311 large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1) 9 GAAGATTTGGATGAGACTGAT 0.552000 49 78 0 0 1 0 0 BAK1 578 broad.mit.edu 37 6 33543199 33543199 + Missense_Mutation SNP G G A TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr6:33543199G>A ENST00000374467.3 - 4 474 c.226C>T c.(226-228)Cgg>Tgg p.R76W BAK1_ENST00000360661.5_Missense_Mutation_p.R76W|BAK1_ENST00000442998.2_Missense_Mutation_p.R76W NM_001188.3 NP_001179.1 Q16611 BAK_HUMAN BCL2-antagonist/killer 1 76 activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria integral to mitochondrial outer membrane|pore complex metal ion binding|protein heterodimerization activity large_intestine(1)|lung(1)|ovary(1)|skin(1) 4 GCGAGCTGCCGTCCCACCTGC 0.617000 4 90 0 0 1 0 0 RP11-1407O15.2 0 broad.mit.edu 37 17 36358981 36358981 + Missense_Mutation SNP C C T TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr17:36358981C>T ENST00000312412.4 - 6 709 c.710G>A c.(709-711)cGc>cAc p.R237H RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.R82H kidney(1)|lung(3) 4 AACAGGTGTGCGGGCAAACTT 0.353000 7 1060 0 0 1 0 0 UBE2NL 389898 broad.mit.edu 37 X 142967509 142967509 + Missense_Mutation SNP C C T TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chrX:142967509C>T ENST00000370494.1 + 1 337 c.307C>T c.(307-309)Cgc>Tgc p.R103C NM_001012989.1 NP_001013007.1 Q5JXB2 UE2NL_HUMAN ubiquitin-conjugating enzyme E2N-like 103 acid-amino acid ligase activity p.R103C(1) breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(192;6.56e-05) CCTGCAGATCCGCACAGTTCT 0.423000 4 110 0 0 1 0 0 ZNF512B 57473 broad.mit.edu 37 20 62597735 62597735 + Missense_Mutation SNP G G A TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr20:62597735G>A ENST00000450537.1 - 5 853 c.793C>T c.(793-795)Ccg>Tcg p.P265S ZNF512B_ENST00000217130.3_Missense_Mutation_p.P265S|ZNF512B_ENST00000369888.1_Missense_Mutation_p.P265S Q96KM6 Z512B_HUMAN zinc finger protein 512B 265 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1) 33 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) TTGGTGACCGGCACAGACTTG 0.572000 6 806 0 0 1 0 0 LEKR1 389170 broad.mit.edu 37 3 156745897 156745897 + Silent SNP T T C TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr3:156745897T>C ENST00000470811.1 + 13 1797 c.462T>C c.(460-462)tcT>tcC p.S154S LEKR1_ENST00000356539.4_Silent_p.S458S D3DNK7 D3DNK7_HUMAN leucine, glutamate and lysine rich 1 0 breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1) 11 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) TACAGATATCTGACTTAATCA 0.343000 39 58 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3235706 3235706 + Missense_Mutation SNP C C T TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chrX:3235706C>T ENST00000217939.6 - 6 6170 c.6016G>A c.(6016-6018)Gaa>Aaa p.E2006K NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2006 Ig-like C2-type 4. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GTCCGGTTTTCGTGCAGGGTG 0.622000 22 21 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577548 7577548 + Missense_Mutation SNP C C T rs28934575 TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr17:7577548C>T ENST00000420246.2 - 7 865 c.733G>A c.(733-735)Ggc>Agc p.G245S TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 245 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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 by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CGGTTCATGCCGCCCATGCAG 0.577000 G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 104 5 0 0 1 0 0 KRTAP10-1 386677 broad.mit.edu 37 21 45959819 45959819 + Missense_Mutation SNP G G A TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr21:45959819G>A ENST00000400375.1 - 1 259 c.215C>T c.(214-216)aCc>aTc p.T72I TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron NM_198691.2 NP_941964.2 P60331 KR101_HUMAN keratin associated protein 10-1 72 24 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1) 11 GCAGGAGCTGGTGCAGCCTGA 0.711000 5 212 0 0 1 0 0 OR5T1 390155 broad.mit.edu 37 11 56043714 56043714 + Silent SNP T T C TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr11:56043714T>C ENST00000313033.2 + 1 686 c.600T>C c.(598-600)tcT>tcC p.S200S NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 200 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S200S(1) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) TTGCTATTTCTTGTTCTGACA 0.398000 171 234 0 0 1 0 0 POLR1E 64425 broad.mit.edu 37 9 37500851 37500851 + Missense_Mutation SNP G G A TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr9:37500851G>A ENST00000377792.3 + 9 1375 c.1087G>A c.(1087-1089)Gga>Aga p.G363R POLR1E_ENST00000377798.4_Missense_Mutation_p.G301R|POLR1E_ENST00000442009.2_Missense_Mutation_p.G231R Q9GZS1 RPA49_HUMAN polymerase (RNA) I polypeptide E, 53kDa 363 rRNA transcription cell junction|cytoplasm|nucleolus DNA binding|DNA-directed RNA polymerase activity|protein binding autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1) 12 GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229) TCTGGGACCTGGAGTTCCCCA 0.483000 43 48 0 0 1 0 0 SLC1A6 6511 broad.mit.edu 37 19 15061177 15061177 + Missense_Mutation SNP C C T TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr19:15061177C>T ENST00000430939.2 - 9 1462 c.1333G>A c.(1333-1335)Gta>Ata p.V445I SLC1A6_ENST00000221742.3_Missense_Mutation_p.V509I|SLC1A6_ENST00000600144.1_Missense_Mutation_p.V431I P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 509 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity p.V509I(1) breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) TCCCCCAGTACGTTGGTCATT 0.577000 33 66 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17038819 17038819 + Splice_Site SNP C C T TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr19:17038819C>T ENST00000443236.1 - 25 3542 c.3511_splice c.e25+1 p.G1171_splice NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1124 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 ACAGACGCACCGATGATGGAG 0.637000 43 66 0 0 1 0 0 UGT2B15 7366 broad.mit.edu 37 4 69519890 69519890 + Missense_Mutation SNP C C T TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr4:69519890C>T ENST00000338206.5 - 5 1187 c.1178G>A c.(1177-1179)gGc>gAc p.G393D NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 393 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity CAAGGGAATGCCCACCATAGG 0.463000 6 506 0 0 1 0 0 ECT2L 345930 broad.mit.edu 37 6 139175261 139175261 + Missense_Mutation SNP G G A TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr6:139175261G>A ENST00000423192.1 + 9 1329 c.1168G>A c.(1168-1170)Gtg>Atg p.V390M ECT2L_ENST00000367682.2_Missense_Mutation_p.V390M|ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000541398.1_Missense_Mutation_p.V321M Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 oncogene-like 390 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1) 30 AGGGGGTCACGTGGACTTCTT 0.448000 """N, Splice, Mis""" ETP ALL 5 436 0 0 1 0 0 DOCK6 57572 broad.mit.edu 37 19 11346350 11346350 + Silent SNP G G T TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr19:11346350G>T ENST00000294618.7 - 21 2489 c.2478C>A c.(2476-2478)cgC>cgA p.R826R DOCK6_ENST00000319867.7_Silent_p.R130R NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 826 R -> C (in dbSNP:rs35881692). blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 GGCAGTGACCGCGGGCATCCT 0.617000 3 38 1 1 1 1 0 SETBP1 26040 broad.mit.edu 37 18 42532372 42532372 + Missense_Mutation SNP G G A TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr18:42532372G>A ENST00000282030.5 + 4 3363 c.3067G>A c.(3067-3069)Gca>Aca p.A1023T NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 1023 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) TGGTAGGCCTGCAAAAACCAA 0.448000 Schinzel-Giedion syndrome 4 165 0 0 1 0 0 THBS1 7057 broad.mit.edu 37 15 39885616 39885616 + Missense_Mutation SNP C C T TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr15:39885616C>T ENST00000260356.5 + 19 3179 c.3014C>T c.(3013-3015)gCt>gTt p.A1005V NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 1005 TSP C-terminal. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) GAGTTTAATGCTGTGGACTTC 0.488000 9 667 0 0 1 0 0 OR6B1 135946 broad.mit.edu 37 7 143701454 143701454 + Missense_Mutation SNP G G A TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr7:143701454G>A ENST00000408922.2 + 1 433 c.365G>A c.(364-366)cGg>cAg p.R122Q NM_001005281.1 NP_001005281.1 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, member 1 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 27 Melanoma(164;0.0783) GCCTATGACCGGTATGTGGCC 0.522000 4 178 0 0 1 0 0 SEC22B 9554 broad.mit.edu 37 1 145109312 145109313 + RNA INS - - A rs148903206 TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr1:145109312_145109313insA ENST00000453618.1 + 0 512 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding aaaccaaaaacaaaAAAAAAAG 0.416 3 6 --- --- --- --- ASXL2 55252 broad.mit.edu 37 2 26022304 26022306 + In_Frame_Del DEL CTG CTG - TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr2:26022304_26022306delCTG ENST00000435504.4 - 5 644_646 c.351_353delCAG c.(349-354)agt>ag p.SS117del ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 117 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCACCATCACTGCTGCTGCTGC 0.463 7 305 --- --- --- --- RFTN1 23180 broad.mit.edu 37 3 16411682 16411685 + Frame_Shift_Del DEL CTGT CTGT - TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr3:16411682_16411685delCTGT ENST00000334133.4 - 6 1200_1203 c.928_931delACAG c.(928-933)tgfs p.TV310fs RFTN1_ENST00000483671.1_5'UTR|RFTN1_ENST00000432519.1_Frame_Shift_Del_p.TV274fs NM_015150.1 NP_055965.1 Q14699 RFTN1_HUMAN raftlin, lipid raft linker 1 310 plasma membrane central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 38 AAACCGCTCACTGTCTGGCCATTC 0.510 124 370 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32521843 32521844 + RNA DEL CT CT - rs67101368 TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr6:32521843_32521844delCT ENST00000411500.1 - 0 740 NR_001298.1 AGAAGGCTACCTCCTGTAAGAA 0.356 4 6 --- --- --- --- MTHFD1L 25902 broad.mit.edu 37 6 151358163 151358164 + Frame_Shift_Ins INS - - A TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr6:151358163_151358164insA ENST00000367321.3 + 26 3031_3032 c.2757_2758insA c.(2755-2760)gaaaaafs p.EK919fs NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 919 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity p.L914fs*14(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) ACCAACCTGACAAAAAAGGTGT 0.480 7 189 --- --- --- --- ALOX5 240 broad.mit.edu 37 10 45941070 45941072 + In_Frame_Del DEL AAG AAG - TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr10:45941070_45941072delAAG ENST00000374391.2 + 14 2013_2015 c.1960_1962delAAG c.(1960-1962)del p.K656del RP11-67C2.2_ENST00000435635.1_RNA|ALOX5_ENST00000542434.1_In_Frame_Del_p.K599del NM_000698.3|NM_001256153.1 NP_000689.1|NP_001243082.1 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 656 Lipoxygenase. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) TGAGCGCAACAAGAAGAAGCAGC 0.547 57 146 --- --- --- --- GLUD1P2 0 broad.mit.edu 37 10 48980053 48980053 + RNA DEL A A - TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr10:48980053delA ENST00000594520.1 + 0 864 aaaattatacaaaaaaaaaaG 0.443 4 7 --- --- --- --- C12orf29 91298 broad.mit.edu 37 12 88442074 88442076 + In_Frame_Del DEL GTT GTT - TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr12:88442074_88442076delGTT ENST00000356891.3 + 7 1056_1058 c.853_855delGTT c.(853-855)del p.V285del NM_001009894.2 NP_001009894.2 Q8N999 CL029_HUMAN chromosome 12 open reading frame 29 285 large_intestine(3)|lung(1)|ovary(1) 5 TTCAAGACCAGTTATTATCAACA 0.335 52 119 --- --- --- --- MAP3K9 4293 broad.mit.edu 37 14 71275774 71275776 + In_Frame_Del DEL CCT CCT - rs3832971 TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr14:71275774_71275776delCCT ENST00000554752.2 - 1 112_114 c.113_115delAGG c.(112-117)gcg>g p.EA38del MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 38 Ala-rich.|Poly-Glu. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity p.E38delE(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GCCGCCGCCGcctcctcctcctc 0.773 2 4 --- --- --- --- WFIKKN2 124857 broad.mit.edu 37 17 48917204 48917204 + Frame_Shift_Del DEL C C - TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr17:48917204delC ENST00000311378.4 + 2 1083 c.555delC c.(553-555)agfs p.S185fs WFIKKN2_ENST00000426127.1_Frame_Shift_Del_p.S92fs NM_175575.5 NP_783165.1 Q8TEU8 WFKN2_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 185 extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) CCAACACCAGCCCCCCACCAC 0.627 29 73 --- --- --- --- KCTD1 284252 broad.mit.edu 37 18 24128223 24128225 + In_Frame_Del DEL TCC TCC - TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr18:24128223_24128225delTCC ENST00000417602.1 - 1 275_277 c.276_278delGGA c.(274-279)gaa>ga p.EE94del KCTD1_ENST00000408011.3_Intron|KCTD1_ENST00000317932.7_Intron|KCTD1_ENST00000579973.1_Intron NM_001142730.2 NP_001136202.1 Q719H9 KCTD1_HUMAN potassium channel tetramerization domain containing 1 0 BTB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|voltage-gated potassium channel complex transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3) 12 all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848) Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05) ctcctcctcttcctcctcctcct 0.655 2 4 --- --- --- --- MN1 4330 broad.mit.edu 37 22 28195603 28195605 + In_Frame_Del DEL TGC TGC - TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee20c616-5ca0-4b81-81a0-fe1551e6f760 4a8c0837-95d6-428f-af78-778185c83361 g.chr22:28195603_28195605delTGC ENST00000302326.4 - 1 1881_1883 c.927_929delGCA c.(925-930)cat>ca p.QH309del NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 309 binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 GAACACACCAtgctgctgctgct 0.640 T ETV6 """AML, meningioma""" 2 4 --- --- --- ---