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 SPON2 10417 broad.mit.edu 37 4 1165200 1165200 + Missense_Mutation SNP C C T TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af eb3f3419-5880-410e-8504-1988487dacd1 g.chr4:1165200C>T ENST00000290902.5 - 3 627 c.295G>A c.(295-297)Gag>Aag p.E99K SPON2_ENST00000431380.1_Missense_Mutation_p.E99K NM_012445.3 NP_036577.1 Q9BUD6 SPON2_HUMAN spondin 2, extracellular matrix protein 99 Spondin. axon guidance|cell adhesion|innate immune response proteinaceous extracellular matrix metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(23;0.00805) UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19) TCGCCGCGCTCCGCAAAGTCG 0.711000 12 42 0 0 1 0 0 ANXA11 311 broad.mit.edu 37 10 81932595 81932595 + Missense_Mutation SNP G G A rs147334030 byFrequency TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af eb3f3419-5880-410e-8504-1988487dacd1 g.chr10:81932595G>A ENST00000438331.1 - 4 505 c.23C>T c.(22-24)cCg>cTg p.P8L ANXA11_ENST00000463657.1_5'UTR|ANXA11_ENST00000360615.4_Missense_Mutation_p.P8L|ANXA11_ENST00000372231.3_Missense_Mutation_p.P8L|ANXA11_ENST00000537102.1_5'UTR|ANXA11_ENST00000535999.1_Missense_Mutation_p.P8L|ANXA11_ENST00000422982.3_Missense_Mutation_p.P8L|ANXA11_ENST00000265447.4_Missense_Mutation_p.P8L NM_145869.1 NP_665876.1 P50995 ANX11_HUMAN annexin A11 8 cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1) 17 Prostate(51;0.00985)|all_epithelial(25;0.0951) Colorectal(32;0.109) ACCTGGGGGCGGGGGATAGCC 0.622000 5 67 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af eb3f3419-5880-410e-8504-1988487dacd1 g.chr21:11058353T>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAAATCTCTTTATAAAACCTT 0.343000 6 45 0 0 1 0 0 TUBBP5 0 broad.mit.edu 37 9 141070116 141070116 + RNA SNP G G A rs142836124 by1000genomes TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af eb3f3419-5880-410e-8504-1988487dacd1 g.chr9:141070116G>A ENST00000503395.1 + 0 1196 p.R77H(1) GACTCTGTGCGCTCGGGGCCC 0.687000 5 88 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38959963 38959963 + Missense_Mutation SNP G G T TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af eb3f3419-5880-410e-8504-1988487dacd1 g.chr19:38959963G>T ENST00000355481.4 + 27 3706 c.3575G>T c.(3574-3576)aGc>aTc p.S1192I RYR1_ENST00000360985.3_Missense_Mutation_p.S1192I|RYR1_ENST00000359596.3_Missense_Mutation_p.S1192I NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1192 6 X approximate repeats.|B30.2/SPRY 2. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CCCGTCTGCAGCTTGGGACCT 0.647000 22 34 2.37509e-13 2.49385e-13 1 1 0 SCN1A 6323 broad.mit.edu 37 2 166866283 166866283 + Silent SNP C C T rs149579028 byFrequency TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af eb3f3419-5880-410e-8504-1988487dacd1 g.chr2:166866283C>T ENST00000423058.2 - 20 3965 c.3948G>A c.(3946-3948)agG>agA p.R1316R SCN1A_ENST00000375405.3_Silent_p.R1305R|SCN1A_ENST00000303395.4_Silent_p.R1316R|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.R1288R NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1316 voltage-gated sodium channel complex voltage-gated sodium channel activity p.R1305R(1)|p.R1316R(1) NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CTCTTAGTGTCCTGAGAGATT 0.368000 16 12 0 0 1 0 0 CYP21A1P 0 broad.mit.edu 37 6 31975110 31975110 + RNA SNP C C T rs41315832 by1000genomes TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af eb3f3419-5880-410e-8504-1988487dacd1 g.chr6:31975110C>T ENST00000342991.6 + 0 1233 NR_040090.1 Q5ST44 Q5ST44_HUMAN electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GTGGCGCAGCCGAGCATGGAA 0.632000 5 48 0 0 1 0 0 KANSL1 284058 broad.mit.edu 37 17 44159834 44159834 + Silent SNP C C T TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af eb3f3419-5880-410e-8504-1988487dacd1 g.chr17:44159834C>T ENST00000262419.6 - 4 1976 c.1506G>A c.(1504-1506)gtG>gtA p.V502V KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000432791.1_Silent_p.V502V|KANSL1_ENST00000575318.1_Silent_p.V502V|KANSL1_ENST00000574590.1_Silent_p.V502V|KANSL1_ENST00000572904.1_Silent_p.V502V NM_001193466.1 NP_001180395.1 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 502 MLL1 complex protein binding GATCTGTCTTCACCTCAGAAC 0.428000 4 27 0 0 1 0 0 DENND6B 414918 broad.mit.edu 37 22 50755725 50755725 + Silent SNP C C T TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af eb3f3419-5880-410e-8504-1988487dacd1 g.chr22:50755725C>T ENST00000413817.2 - 5 521 c.450G>A c.(448-450)caG>caA p.Q150Q NM_001001794.3 NP_001001794.3 DENN/MADD domain containing 6B AGCGCACCTTCTGGAAGTAGC 0.637000 14 18 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71380017 71380017 + Missense_Mutation SNP G G A TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af eb3f3419-5880-410e-8504-1988487dacd1 g.chr17:71380017G>A ENST00000392650.3 - 33 4703 c.4703C>T c.(4702-4704)aCc>aTc p.T1568I SDK2_ENST00000388726.3_Missense_Mutation_p.T1568I NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1568 Fibronectin type-III 10. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 TCACTCACAGGTAAGCTCAGC 0.607000 13 25 0 0 1 0 0 GLYATL2 219970 broad.mit.edu 37 11 58604779 58604779 + Missense_Mutation SNP T T C TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af eb3f3419-5880-410e-8504-1988487dacd1 g.chr11:58604779T>C ENST00000287275.1 - 4 668 c.278A>G c.(277-279)aAt>aGt p.N93S GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Missense_Mutation_p.N93S NM_145016.3 NP_659453.3 Q8WU03 GLYL2_HUMAN glycine-N-acyltransferase-like 2 93 mitochondrion glycine N-acyltransferase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 23 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) GCTGATTACATTGGAGTATGA 0.393000 25 32 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659734 24659734 + RNA SNP T T C TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af eb3f3419-5880-410e-8504-1988487dacd1 g.chr22:24659734T>C ENST00000414583.2 + 0 3259 NR_003714.1 CTCTCTCCTGTGGGAGGGGGG 0.632000 3 19 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76067911 76067911 + RNA SNP A A G rs12101948 by1000genomes TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af eb3f3419-5880-410e-8504-1988487dacd1 g.chr15:76067911A>G ENST00000395215.3 + 0 18 CAGGTGCCTGATACGTGACTG 0.547000 5 42 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135428968 135428968 + Missense_Mutation SNP G G A rs149243520 byFrequency TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af eb3f3419-5880-410e-8504-1988487dacd1 g.chrX:135428968G>A ENST00000394143.1 + 6 3394 c.3103G>A c.(3103-3105)Gag>Aag p.E1035K GPR112_ENST00000394141.1_Missense_Mutation_p.E830K|GPR112_ENST00000370652.1_Missense_Mutation_p.E1035K|GPR112_ENST00000287534.4_Missense_Mutation_p.E972K|GPR112_ENST00000412101.1_Missense_Mutation_p.E830K NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1035 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TACCATGTCTGAGCCTTCTAC 0.478000 6 68 0 0 1 0 0 DDX3Y 8653 broad.mit.edu 37 Y 15025700 15025700 + Missense_Mutation SNP C C A TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af eb3f3419-5880-410e-8504-1988487dacd1 g.chrY:15025700C>A ENST00000336079.3 + 7 714 c.608C>A c.(607-609)cCa>cAa p.P203Q DDX3Y_ENST00000360160.4_Missense_Mutation_p.P203Q|DDX3Y_ENST00000463199.1_3'UTR NM_001122665.1|NM_004660.3 NP_001116137.1|NP_004651.2 O15523 DDX3Y_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked 203 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1) 5 CGTCCTACTCCAGTGCAAAAA 0.368000 3 19 0.115264 0.115264 1 1 0 SULT1A1 6817 broad.mit.edu 37 16 28631452 28631452 + Missense_Mutation SNP T T C TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af eb3f3419-5880-410e-8504-1988487dacd1 g.chr16:28631452T>C ENST00000350842.4 - 2 458 c.70A>G c.(70-72)Atg>Gtg p.M24V SULT1A1_ENST00000395609.1_5'UTR NM_177536.3 NP_803880.1 P50225 ST1A1_HUMAN sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 0 3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2) 16 AGAATGCTCATACCTATTTGC 0.333000 11 9 0 0 1 0 0 SPON2 10417 broad.mit.edu 37 4 1165200 1165200 + Missense_Mutation SNP C C T TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af f8b219fd-cbd2-4bff-b919-d5a521efb099 g.chr4:1165200C>T ENST00000290902.5 - 3 627 c.295G>A c.(295-297)Gag>Aag p.E99K SPON2_ENST00000431380.1_Missense_Mutation_p.E99K NM_012445.3 NP_036577.1 Q9BUD6 SPON2_HUMAN spondin 2, extracellular matrix protein 99 Spondin. axon guidance|cell adhesion|innate immune response proteinaceous extracellular matrix metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(23;0.00805) UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19) TCGCCGCGCTCCGCAAAGTCG 0.711000 12 42 0 0 1 0 0 ANXA11 311 broad.mit.edu 37 10 81932595 81932595 + Missense_Mutation SNP G G A rs147334030 byFrequency TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af f8b219fd-cbd2-4bff-b919-d5a521efb099 g.chr10:81932595G>A ENST00000438331.1 - 4 505 c.23C>T c.(22-24)cCg>cTg p.P8L ANXA11_ENST00000372231.3_Missense_Mutation_p.P8L|ANXA11_ENST00000360615.4_Missense_Mutation_p.P8L|ANXA11_ENST00000535999.1_Missense_Mutation_p.P8L|ANXA11_ENST00000537102.1_5'UTR|ANXA11_ENST00000422982.3_Missense_Mutation_p.P8L|ANXA11_ENST00000463657.1_5'UTR|ANXA11_ENST00000265447.4_Missense_Mutation_p.P8L NM_145869.1 NP_665876.1 P50995 ANX11_HUMAN annexin A11 8 cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1) 17 Prostate(51;0.00985)|all_epithelial(25;0.0951) Colorectal(32;0.109) ACCTGGGGGCGGGGGATAGCC 0.622000 5 67 0 0 1 0 0 DENND6B 414918 broad.mit.edu 37 22 50755725 50755725 + Silent SNP C C T TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af f8b219fd-cbd2-4bff-b919-d5a521efb099 g.chr22:50755725C>T ENST00000413817.2 - 5 521 c.450G>A c.(448-450)caG>caA p.Q150Q NM_001001794.3 NP_001001794.3 DENN/MADD domain containing 6B AGCGCACCTTCTGGAAGTAGC 0.637000 14 18 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725596 32725596 + Silent SNP C C G rs115565146 by1000genomes TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af f8b219fd-cbd2-4bff-b919-d5a521efb099 g.chr6:32725596C>G ENST00000435145.2 - 4 772 c.711G>C c.(709-711)ctG>ctC p.L237L HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Silent_p.L237L Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 CGAGGAAGATCAGCCCCAGCA 0.562000 3 19 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166866283 166866283 + Silent SNP C C T rs149579028 byFrequency TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af f8b219fd-cbd2-4bff-b919-d5a521efb099 g.chr2:166866283C>T ENST00000423058.2 - 20 3965 c.3948G>A c.(3946-3948)agG>agA p.R1316R SCN1A_ENST00000375405.3_Silent_p.R1305R|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000303395.4_Silent_p.R1316R|SCN1A_ENST00000409050.1_Silent_p.R1288R|AC010127.3_ENST00000595647.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1316 voltage-gated sodium channel complex voltage-gated sodium channel activity p.R1305R(1)|p.R1316R(1) NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CTCTTAGTGTCCTGAGAGATT 0.368000 16 12 0 0 1 0 0 CYP21A1P 0 broad.mit.edu 37 6 31975110 31975110 + RNA SNP C C T rs41315832 by1000genomes TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af f8b219fd-cbd2-4bff-b919-d5a521efb099 g.chr6:31975110C>T ENST00000342991.6 + 0 1233 NR_040090.1 Q5ST44 Q5ST44_HUMAN electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GTGGCGCAGCCGAGCATGGAA 0.632000 5 48 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102304772 102304772 + RNA SNP T T C TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af f8b219fd-cbd2-4bff-b919-d5a521efb099 g.chr15:102304772T>C ENST00000561463.1 + 0 12818 CACAGCGGCGTGACGAGACTC 0.587000 5 15 0 0 1 0 0 KANSL1 284058 broad.mit.edu 37 17 44159834 44159834 + Silent SNP C C T TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af f8b219fd-cbd2-4bff-b919-d5a521efb099 g.chr17:44159834C>T ENST00000262419.6 - 4 1976 c.1506G>A c.(1504-1506)gtG>gtA p.V502V KANSL1_ENST00000432791.1_Silent_p.V502V|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Silent_p.V502V|KANSL1_ENST00000574590.1_Silent_p.V502V|KANSL1_ENST00000572904.1_Silent_p.V502V NM_001193466.1 NP_001180395.1 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 502 MLL1 complex protein binding GATCTGTCTTCACCTCAGAAC 0.428000 4 27 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71380017 71380017 + Missense_Mutation SNP G G A TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af f8b219fd-cbd2-4bff-b919-d5a521efb099 g.chr17:71380017G>A ENST00000392650.3 - 33 4703 c.4703C>T c.(4702-4704)aCc>aTc p.T1568I SDK2_ENST00000388726.3_Missense_Mutation_p.T1568I NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1568 Fibronectin type-III 10. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 TCACTCACAGGTAAGCTCAGC 0.607000 13 25 0 0 1 0 0 GLYATL2 219970 broad.mit.edu 37 11 58604779 58604779 + Missense_Mutation SNP T T C TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af f8b219fd-cbd2-4bff-b919-d5a521efb099 g.chr11:58604779T>C ENST00000287275.1 - 4 668 c.278A>G c.(277-279)aAt>aGt p.N93S GLYATL2_ENST00000532258.1_Missense_Mutation_p.N93S|GLYATL2_ENST00000533636.1_5'UTR NM_145016.3 NP_659453.3 Q8WU03 GLYL2_HUMAN glycine-N-acyltransferase-like 2 93 mitochondrion glycine N-acyltransferase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 23 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) GCTGATTACATTGGAGTATGA 0.393000 25 32 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T T C rs149439944 by1000genomes TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af f8b219fd-cbd2-4bff-b919-d5a521efb099 g.chr17:39274291T>C ENST00000391413.2 - 1 315 c.277A>G c.(277-279)Atg>Gtg p.M93V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.M93V(4) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACATAGACTGGCAG 0.662000 5 31 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38959963 38959963 + Missense_Mutation SNP G G T TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af f8b219fd-cbd2-4bff-b919-d5a521efb099 g.chr19:38959963G>T ENST00000355481.4 + 27 3706 c.3575G>T c.(3574-3576)aGc>aTc p.S1192I RYR1_ENST00000359596.3_Missense_Mutation_p.S1192I|RYR1_ENST00000360985.3_Missense_Mutation_p.S1192I NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1192 6 X approximate repeats.|B30.2/SPRY 2. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CCCGTCTGCAGCTTGGGACCT 0.647000 22 34 2.37509e-13 2.5001e-13 1 1 0 GPR112 139378 broad.mit.edu 37 X 135428968 135428968 + Missense_Mutation SNP G G A rs149243520 byFrequency TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af f8b219fd-cbd2-4bff-b919-d5a521efb099 g.chrX:135428968G>A ENST00000394143.1 + 6 3394 c.3103G>A c.(3103-3105)Gag>Aag p.E1035K GPR112_ENST00000287534.4_Missense_Mutation_p.E972K|GPR112_ENST00000412101.1_Missense_Mutation_p.E830K|GPR112_ENST00000394141.1_Missense_Mutation_p.E830K|GPR112_ENST00000370652.1_Missense_Mutation_p.E1035K NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1035 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TACCATGTCTGAGCCTTCTAC 0.478000 6 68 0 0 1 0 0 DDX3Y 8653 broad.mit.edu 37 Y 15025700 15025700 + Missense_Mutation SNP C C A TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af f8b219fd-cbd2-4bff-b919-d5a521efb099 g.chrY:15025700C>A ENST00000336079.3 + 7 714 c.608C>A c.(607-609)cCa>cAa p.P203Q DDX3Y_ENST00000463199.1_3'UTR|DDX3Y_ENST00000360160.4_Missense_Mutation_p.P203Q NM_001122665.1|NM_004660.3 NP_001116137.1|NP_004651.2 O15523 DDX3Y_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked 203 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1) 5 CGTCCTACTCCAGTGCAAAAA 0.368000 3 19 0.115264 0.115264 1 1 0 SULT1A1 6817 broad.mit.edu 37 16 28631452 28631452 + Missense_Mutation SNP T T C TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af f8b219fd-cbd2-4bff-b919-d5a521efb099 g.chr16:28631452T>C ENST00000350842.4 - 2 458 c.70A>G c.(70-72)Atg>Gtg p.M24V SULT1A1_ENST00000395609.1_5'UTR NM_177536.3 NP_803880.1 P50225 ST1A1_HUMAN sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 0 3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2) 16 AGAATGCTCATACCTATTTGC 0.333000 11 9 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76067911 76067911 + RNA SNP A A G rs12101948 by1000genomes TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af f8b219fd-cbd2-4bff-b919-d5a521efb099 g.chr15:76067911A>G ENST00000395215.3 + 0 18 CAGGTGCCTGATACGTGACTG 0.547000 5 42 0 0 1 0 0 KCNN3 3782 broad.mit.edu 37 1 154842331 154842333 + In_Frame_Del DEL TGC TGC - TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af eb3f3419-5880-410e-8504-1988487dacd1 g.chr1:154842331_154842333delTGC ENST00000271915.3 - 1 423_425 c.108_110delGCA c.(106-111)caa>ca p.QQ40del NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 40 Poly-Gln. integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) ctgctgctgttgctgctgctgct 0.670 3 5 --- --- --- --- CRH 1392 broad.mit.edu 37 8 67089559 67089561 + In_Frame_Del DEL GCG GCG - TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af eb3f3419-5880-410e-8504-1988487dacd1 g.chr8:67089559_67089561delGCG ENST00000276571.3 - 2 598_600 c.152_154delCGC c.(151-156)cag>c p.PQ51del NM_000756.2 NP_000747.1 P06850 CRF_HUMAN corticotropin releasing hormone 51 female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission extracellular region|soluble fraction neuropeptide hormone activity breast(1)|endometrium(1)|lung(2)|urinary_tract(1) 5 all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011) Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) Corticotropin(DB01285) TGCTCGGACTGCGGCGGCGGCTG 0.734 OREG0018805 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- MICALCL 84953 broad.mit.edu 37 11 12316384 12316389 + In_Frame_Del DEL CTCCTA CTCCTA - rs3812754 byFrequency TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af eb3f3419-5880-410e-8504-1988487dacd1 g.chr11:12316384_12316389delCTCCTA ENST00000256186.2 + 3 1697_1702 c.1406_1411delCTCCTA c.(1405-1413)cca>c p.PPT469del NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 469 Poly-Pro. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding p.T471delT(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) cctcctcctcctcctACAGCGGGAGG 0.573 7 11 --- --- --- --- MAP3K9 4293 broad.mit.edu 37 14 71275774 71275776 + In_Frame_Del DEL CCT CCT - rs3832971 TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af eb3f3419-5880-410e-8504-1988487dacd1 g.chr14:71275774_71275776delCCT ENST00000554752.2 - 1 112_114 c.113_115delAGG c.(112-117)gcg>g p.EA38del MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del|MAP3K9_ENST00000555993.2_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 3 3 --- --- --- --- CTSH 1512 broad.mit.edu 37 15 79220056 79220057 + Splice_Site INS - - T TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af eb3f3419-5880-410e-8504-1988487dacd1 g.chr15:79220056_79220057insT ENST00000220166.5 - 9 806_807 c.699_splice c.e9+1 p.L233_splice CTSH_ENST00000534533.1_5'UTR NM_004390.3 NP_004381.2 P09668 CATH_HUMAN cathepsin H 233 protein destabilization|proteolysis lysosome cysteine-type endopeptidase activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1) 10 GGCACTCACGATTGTGATGTTG 0.535 18 33 --- --- --- --- GGTLC3 728226 broad.mit.edu 37 22 20367254 20367254 + Frame_Shift_Del DEL G G - TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af eb3f3419-5880-410e-8504-1988487dacd1 g.chr22:20367254delG ENST00000404912.1 - 3 411 c.279delC c.(277-279)ccfs p.P93fs GGTLC3_ENST00000424787.2_Frame_Shift_Del_p.P104fs gamma-glutamyltransferase light chain 3 lung(1) 1 TGGCAGGTGAGGGGGGTGCCC 0.617 4 7 --- --- --- --- PDK3 5165 broad.mit.edu 37 X 24517018 24517019 + Splice_Site INS - - T TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af eb3f3419-5880-410e-8504-1988487dacd1 g.chrX:24517018_24517019insT ENST00000441463.2 + 3 320 c.e3+1 PDK3_ENST00000493226.1_3'UTR|PDK3_ENST00000379162.4_Splice_Site NM_001142386.2 NP_001135858.1 Q15120 PDK3_HUMAN pyruvate dehydrogenase kinase, isozyme 3 glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 TCTTGGATAAGTAAGTATGGTA 0.317 3 6 --- --- --- --- KCNN3 3782 broad.mit.edu 37 1 154842331 154842333 + In_Frame_Del DEL TGC TGC - TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af f8b219fd-cbd2-4bff-b919-d5a521efb099 g.chr1:154842331_154842333delTGC ENST00000271915.3 - 1 423_425 c.108_110delGCA c.(106-111)caa>ca p.QQ40del NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 40 Poly-Gln. integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) ctgctgctgttgctgctgctgct 0.670 3 5 --- --- --- --- CRH 1392 broad.mit.edu 37 8 67089559 67089561 + In_Frame_Del DEL GCG GCG - TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af f8b219fd-cbd2-4bff-b919-d5a521efb099 g.chr8:67089559_67089561delGCG ENST00000276571.3 - 2 598_600 c.152_154delCGC c.(151-156)cag>c p.PQ51del NM_000756.2 NP_000747.1 P06850 CRF_HUMAN corticotropin releasing hormone 51 female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission extracellular region|soluble fraction neuropeptide hormone activity breast(1)|endometrium(1)|lung(2)|urinary_tract(1) 5 all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011) Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) Corticotropin(DB01285) TGCTCGGACTGCGGCGGCGGCTG 0.734 OREG0018805 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- MAP3K9 4293 broad.mit.edu 37 14 71275774 71275776 + In_Frame_Del DEL CCT CCT - rs3832971 TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af f8b219fd-cbd2-4bff-b919-d5a521efb099 g.chr14:71275774_71275776delCCT ENST00000554752.2 - 1 112_114 c.113_115delAGG c.(112-117)gcg>g p.EA38del MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del|MAP3K9_ENST00000555993.2_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 3 3 --- --- --- --- CTSH 1512 broad.mit.edu 37 15 79220056 79220057 + Splice_Site INS - - T TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af f8b219fd-cbd2-4bff-b919-d5a521efb099 g.chr15:79220056_79220057insT ENST00000220166.5 - 9 806_807 c.699_splice c.e9+1 p.L233_splice CTSH_ENST00000534533.1_5'UTR NM_004390.3 NP_004381.2 P09668 CATH_HUMAN cathepsin H 233 protein destabilization|proteolysis lysosome cysteine-type endopeptidase activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1) 10 GGCACTCACGATTGTGATGTTG 0.535 18 33 --- --- --- --- PDK3 5165 broad.mit.edu 37 X 24517018 24517019 + Splice_Site INS - - T TCGA-BJ-A45K-01A-11D-A23U-08 TCGA-BJ-A45K-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ebe6d2-6537-49d3-849d-fe93e2cf52af f8b219fd-cbd2-4bff-b919-d5a521efb099 g.chrX:24517018_24517019insT ENST00000441463.2 + 3 320 c.e3+1 PDK3_ENST00000493226.1_3'UTR|PDK3_ENST00000379162.4_Splice_Site NM_001142386.2 NP_001135858.1 Q15120 PDK3_HUMAN pyruvate dehydrogenase kinase, isozyme 3 glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 TCTTGGATAAGTAAGTATGGTA 0.317 3 6 --- --- --- ---