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 uc021xkj.1 - 4 920 c.295G>A c.(295-297)Gag>Aag p.E99K SPON2_uc003gco.4_Missense_Mutation_p.E99K|SPON2_uc010ibr.3_Missense_Mutation_p.E99K|SPON2_uc003gcm.1_Missense_Mutation_p.E17K NM_001199021 NP_001185950 Q9BUD6 SPON2_HUMAN Homo sapiens spondin 2, extracellular matrix protein (SPON2), transcript variant 3, mRNA. 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 FAM116B 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 uc011arv.1 - 4 522 c.450G>A c.(448-450)caG>caA p.Q150Q NM_001001794 NP_001001794 Q8NEG7 F116B_HUMAN Homo sapiens family with sequence similarity 116, member B (FAM116B), mRNA. 150 endometrium(1)|kidney(1)|lung(2)|skin(1) 5 all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) AGCGCACCTTCTGGAAGTAGC 0.637000 14 18 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 uc002oit.3 + 26 3705 c.3575G>T c.(3574-3576)aGc>aTc p.S1192I RYR1_uc002oiu.3_Missense_Mutation_p.S1192I NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 1192 6 X approximate repeats.|B30.2/SPRY 2. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|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 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 uc002ikc.3 - 3 1977 c.1506G>A c.(1504-1506)gtG>gtA p.V502V KANSL1_uc002ikd.3_Silent_p.V502V|KANSL1_uc010dav.3_Silent_p.V502V NM_001193466 NP_056258 Q7Z3B3 K1267_HUMAN Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA. 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-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 uc010dfm.3 - 32 4703 c.4703C>T c.(4702-4704)aCc>aTc p.T1568I SDK2_uc002jjt.4_Missense_Mutation_p.T727I|SDK2_uc010dfn.2_Missense_Mutation_p.T1247I NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA. 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 uc001nnd.4 - 3 409 c.278A>G c.(277-279)aAt>aGt p.N93S GLYATL2_uc009ymq.3_Missense_Mutation_p.N93S NM_145016 NP_659453 Q8WU03 GLYL2_HUMAN Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA. 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 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 uc002dqm.3 - 1 459 c.70A>G c.(70-72)Atg>Gtg p.M24V NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqp.3_5'UTR|SULT1A1_uc002dqn.3_5'UTR NM_177536 NP_803880 P50225 ST1A1_HUMAN Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 5, mRNA. 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 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 uc002udo.4 - 21 4175 c.3948G>A c.(3946-3948)agG>agA p.R1316R SCN1A_uc010fpk.3_Silent_p.R1288R|SCN1A_uc021vsb.1_Silent_p.R1305R NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 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 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 uc021xkj.1 - 4 920 c.295G>A c.(295-297)Gag>Aag p.E99K SPON2_uc003gco.4_Missense_Mutation_p.E99K|SPON2_uc010ibr.3_Missense_Mutation_p.E99K|SPON2_uc003gcm.1_Missense_Mutation_p.E17K NM_001199021 NP_001185950 Q9BUD6 SPON2_HUMAN Homo sapiens spondin 2, extracellular matrix protein (SPON2), transcript variant 3, mRNA. 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 FAM116B 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 uc011arv.1 - 4 522 c.450G>A c.(448-450)caG>caA p.Q150Q NM_001001794 NP_001001794 Q8NEG7 F116B_HUMAN Homo sapiens family with sequence similarity 116, member B (FAM116B), mRNA. 150 endometrium(1)|kidney(1)|lung(2)|skin(1) 5 all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) AGCGCACCTTCTGGAAGTAGC 0.637000 14 18 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 uc002oit.3 + 26 3705 c.3575G>T c.(3574-3576)aGc>aTc p.S1192I RYR1_uc002oiu.3_Missense_Mutation_p.S1192I NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 1192 6 X approximate repeats.|B30.2/SPRY 2. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|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 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 uc002ikc.3 - 3 1977 c.1506G>A c.(1504-1506)gtG>gtA p.V502V KANSL1_uc002ikd.3_Silent_p.V502V|KANSL1_uc010dav.3_Silent_p.V502V NM_001193466 NP_056258 Q7Z3B3 K1267_HUMAN Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA. 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 uc010dfm.3 - 32 4703 c.4703C>T c.(4702-4704)aCc>aTc p.T1568I SDK2_uc002jjt.4_Missense_Mutation_p.T727I|SDK2_uc010dfn.2_Missense_Mutation_p.T1247I NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA. 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 uc001nnd.4 - 3 409 c.278A>G c.(277-279)aAt>aGt p.N93S GLYATL2_uc009ymq.3_Missense_Mutation_p.N93S NM_145016 NP_659453 Q8WU03 GLYL2_HUMAN Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA. 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 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 uc002dqm.3 - 1 459 c.70A>G c.(70-72)Atg>Gtg p.M24V NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqp.3_5'UTR|SULT1A1_uc002dqn.3_5'UTR NM_177536 NP_803880 P50225 ST1A1_HUMAN Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 5, mRNA. 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 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 uc002udo.4 - 21 4175 c.3948G>A c.(3946-3948)agG>agA p.R1316R SCN1A_uc010fpk.3_Silent_p.R1288R|SCN1A_uc021vsb.1_Silent_p.R1305R NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 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 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 uc003xvy.2 - 1 485_487 c.152_154delCGC c.(151-156)ccgcag>cag p.P51del CRH_uc022avj.1_In_Frame_Del_p.P51del NM_000756 NP_000747 P06850 CRF_HUMAN Homo sapiens corticotropin releasing hormone (CRH), mRNA. 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 --- --- --- --- 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 uc021srk.1 - 9 796 c.699_splice c.e9+1 p.I233_splice CTSH_uc010unf.1_Splice_Site NM_004390 NP_004381 P09668 CATH_HUMAN Homo sapiens cathepsin H (CTSH), mRNA. 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-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 uc004dbh.3 + 3 549 c.320_splice c.e3+1 p.N107_splice PDK3_uc004dbg.3_Splice_Site_p.N107_splice NM_001142386 NP_001135858 Q15120 PDK3_HUMAN Homo sapiens pyruvate dehydrogenase kinase, isozyme 3 (PDK3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 107 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 --- --- --- --- 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 uc003xvy.2 - 1 485_487 c.152_154delCGC c.(151-156)ccgcag>cag p.P51del CRH_uc022avj.1_In_Frame_Del_p.P51del NM_000756 NP_000747 P06850 CRF_HUMAN Homo sapiens corticotropin releasing hormone (CRH), mRNA. 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 --- --- --- --- 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 uc021srk.1 - 9 796 c.699_splice c.e9+1 p.I233_splice CTSH_uc010unf.1_Splice_Site NM_004390 NP_004381 P09668 CATH_HUMAN Homo sapiens cathepsin H (CTSH), mRNA. 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 uc004dbh.3 + 3 549 c.320_splice c.e3+1 p.N107_splice PDK3_uc004dbg.3_Splice_Site_p.N107_splice NM_001142386 NP_001135858 Q15120 PDK3_HUMAN Homo sapiens pyruvate dehydrogenase kinase, isozyme 3 (PDK3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 107 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 --- --- --- ---