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 RSC1A1 6248 broad.mit.edu 37 1 15987657 15987657 + Missense_Mutation SNP A A G TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr1:15987657A>G ENST00000345034.1 + 1 1294 c.1294A>G c.(1294-1296)Act>Gct p.T432A DDI2_ENST00000480945.1_3'UTR NM_006511.1 NP_006502.1 Q92681 RSCA1_HUMAN regulatory solute carrier protein, family 1, member 1 432 negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport cell junction|Golgi apparatus|nucleus ion channel inhibitor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1) 11 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ATTAACAGGTACTTCATCTGA 0.438 13 25 --- --- --- --- DMAP1 55929 broad.mit.edu 37 1 44680509 44680509 + Missense_Mutation SNP T T G TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr1:44680509T>G ENST00000372289.2 + 3 595 c.332T>G c.(331-333)tTc>tGc p.F111C DMAP1_ENST00000315913.5_Missense_Mutation_p.F111C|DMAP1_ENST00000361745.6_Missense_Mutation_p.F111C|DMAP1_ENST00000488433.1_3'UTR NM_019100.4 NP_061973.1 Q9NPF5 DMAP1_HUMAN DNA methyltransferase 1 associated protein 1 111 DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex DNA binding|protein binding breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Acute lymphoblastic leukemia(166;0.155) GGAGCAATGTTCTTCCACTGG 0.572 6 63 --- --- --- --- KIDINS220 57498 broad.mit.edu 37 2 8874814 8874814 + Missense_Mutation SNP A A C TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr2:8874814A>C ENST00000256707.3 - 28 3968 c.3787T>G c.(3787-3789)Ttt>Gtt p.F1263V KIDINS220_ENST00000427284.1_Missense_Mutation_p.F1244V|KIDINS220_ENST00000418530.1_Missense_Mutation_p.F1164V|KIDINS220_ENST00000473731.1_Missense_Mutation_p.F1244V NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 1263 activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CAGTCTCCAAAATTCATATTC 0.299 19 26 --- --- --- --- CAPN13 92291 broad.mit.edu 37 2 30961160 30961160 + Splice_Site SNP C C T TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr2:30961160C>T ENST00000295055.8 - 17 1771 c.e17-1 CAPN13_ENST00000534090.2_Splice_Site NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) CCTGGAGGTCCTGAGGAGAGA 0.597 4 42 --- --- --- --- SLC30A6 55676 broad.mit.edu 37 2 32429723 32429723 + Missense_Mutation SNP T T C TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr2:32429723T>C ENST00000282587.5 + 11 767 c.730T>C c.(730-732)Tat>Cat p.Y244H SLC30A6_ENST00000538303.1_Missense_Mutation_p.Y215H|SLC30A6_ENST00000357055.3_Missense_Mutation_p.Y47H|SLC30A6_ENST00000379343.2_Missense_Mutation_p.Y284H|SLC30A6_ENST00000435660.1_Missense_Mutation_p.Y244H|SLC30A6_ENST00000406369.1_Missense_Mutation_p.Y170H NM_017964.3 NP_060434.2 Q6NXT4 ZNT6_HUMAN solute carrier family 30 (zinc transporter), member 6 244 Golgi membrane|integral to membrane zinc ion transmembrane transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TGGCACTATGTATCCCATGAG 0.358 21 52 --- --- --- --- CHST2 9435 broad.mit.edu 37 3 142840957 142840957 + Silent SNP C C G TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr3:142840957C>G ENST00000309575.3 + 2 2683 c.1299C>G c.(1297-1299)gtC>gtG p.V433V NM_004267.4 NP_004258.2 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 433 inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2) 22 GAGACCCCGTCAAGACACTAC 0.597 9 24 --- --- --- --- HSPA4 3308 broad.mit.edu 37 5 132426987 132426987 + Missense_Mutation SNP G G A rs141758444 TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr5:132426987G>A ENST00000304858.2 + 12 1770 c.1481G>A c.(1480-1482)aGt>aAt p.S494N NM_002154.3 NP_002145.3 P34932 HSP74_HUMAN heat shock 70kDa protein 4 494 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGTGTGTCCAGTGCATCTTTA 0.423 17 39 --- --- --- --- ELOVL4 6785 broad.mit.edu 37 6 80626371 80626371 + Missense_Mutation SNP A A T TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr6:80626371A>T ENST00000369816.4 - 6 1199 c.899T>A c.(898-900)aTa>aAa p.I300K NM_022726.3 NP_073563.1 Q9GZR5 ELOV4_HUMAN ELOVL fatty acid elongase 4 300 fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011) BRCA - Breast invasive adenocarcinoma(397;0.0168) Alpha-Linolenic Acid(DB00132) TCCATTTTCTATCATGAGTTG 0.358 18 39 --- --- --- --- ABCG4 64137 broad.mit.edu 37 11 119027721 119027721 + Silent SNP T T C TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr11:119027721T>C ENST00000307417.3 + 9 1429 c.1065T>C c.(1063-1065)ccT>ccC p.P355P ABCG4_ENST00000449422.2_Silent_p.P355P|ABCG4_ENST00000531739.1_Silent_p.P355P|AP002956.1_ENST00000599663.1_Intron NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 355 cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) CTCCTTGTCCTCCGGTGAGTA 0.607 3 107 --- --- --- --- NECAP1 25977 broad.mit.edu 37 12 8242592 8242592 + Silent SNP A A G TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr12:8242592A>G ENST00000339754.5 + 2 234 c.156A>G c.(154-156)aaA>aaG p.K52K NM_015509.3 NP_056324.2 Q8NC96 NECP1_HUMAN NECAP endocytosis associated 1 52 endocytosis|protein transport clathrin coated vesicle membrane|plasma membrane cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Kidney(36;0.0915) TCACTTCAAAAGGGAAGACTG 0.438 3 124 --- --- --- --- MBD6 114785 broad.mit.edu 37 12 57918089 57918089 + Translation_Start_Site SNP G G T TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr12:57918089G>T ENST00000355673.3 + 3 359 c.3G>T c.(1-3)atG>atT p.M1I MBD6_ENST00000549231.1_3'UTR|MBD6_ENST00000431731.2_Start_Codon_SNP_p.M1I NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 1 chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 TACACACAATGAATGGGGGCA 0.572 4 80 --- --- --- --- TPTE2P6 374491 broad.mit.edu 37 13 25171525 25171525 + RNA SNP G G T TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr13:25171525G>T ENST00000453498.1 + 0 1421 TPTE2P6_ENST00000440905.1_RNA CTATTCTTAGGCTTTATCTAC 0.353 7 15 --- --- --- --- LINC00521 256369 broad.mit.edu 37 14 94464557 94464557 + RNA SNP A A G TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr14:94464557A>G ENST00000444118.1 + 0 237 NR_024182.1 GGGCTGTGGCAGGAACTCTAC 0.592 8 61 --- --- --- --- SALL1 6299 broad.mit.edu 37 16 51175105 51175105 + Missense_Mutation SNP A A G TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr16:51175105A>G ENST00000440970.1 - 2 1168 c.737T>C c.(736-738)aTa>aCa p.I246T SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.I343T NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 343 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CGCTGCCAATATGTTCATATT 0.532 5 143 --- --- --- --- GSDMB 55876 broad.mit.edu 37 17 38073351 38073351 + Silent SNP C C T TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr17:38073351C>T ENST00000394175.2 - 1 442 c.219G>A c.(217-219)ctG>ctA p.L73L GSDMB_ENST00000360317.3_Silent_p.L73L|GSDMB_ENST00000394179.1_Silent_p.L73L|GSDMB_ENST00000418519.1_Silent_p.L73L|GSDMB_ENST00000520542.1_Silent_p.L73L|GSDMB_ENST00000309481.7_Silent_p.L73L NM_018530.2 NP_061000.2 Q8TAX9 GSDMB_HUMAN gasdermin B 73 cytoplasm breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2) 21 GCCCAGAATCCAGTTCATCTA 0.507 7 91 --- --- --- --- STAT3 6774 broad.mit.edu 37 17 40481653 40481653 + Missense_Mutation SNP A A C TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr17:40481653A>C ENST00000264657.5 - 13 1464 c.1152T>G c.(1150-1152)ttT>ttG p.F384L STAT3_ENST00000389272.3_Missense_Mutation_p.F286L|STAT3_ENST00000588969.1_Missense_Mutation_p.F384L|STAT3_ENST00000585517.1_Missense_Mutation_p.F384L|STAT3_ENST00000404395.3_Missense_Mutation_p.F384L 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) 384 F -> L (in AD-HIES).|F -> S (in AD-HIES). 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 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) CCAGAATGTTAAATTTCCGGG 0.458 Hyperimmunoglobulin E Recurrent Infection Syndrome 3 88 --- --- --- --- SMAD4 4089 broad.mit.edu 37 18 48591894 48591894 + Missense_Mutation SNP T T A TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr18:48591894T>A ENST00000342988.3 + 9 1595 c.1057T>A c.(1057-1059)Tac>Aac p.Y353N SMAD4_ENST00000398417.2_Missense_Mutation_p.Y353N|SMAD4_ENST00000588745.1_Missense_Mutation_p.Y257N NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 353 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(2) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) TGTTGATGGATACGTGGACCC 0.438 25 42 --- --- --- --- CREB3 10488 broad.mit.edu 37 9 35736505 35736506 + Frame_Shift_Del DEL TG TG - TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr9:35736505_35736506delTG ENST00000353704.2 + 9 1336_1337 c.898_899delTG c.(898-900)tgtfs p.C300fs CREB3_ENST00000486056.1_3'UTR NM_006368.4 NP_006359.3 O43889 CREB3_HUMAN cAMP responsive element binding protein 3 324 chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1) 9 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GBM - Glioblastoma multiforme(74;0.0285) CGGCTCAGACTGTGTACTCCAG 0.614 OREG0019176 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 129 --- --- --- --- TTLL12 23170 broad.mit.edu 37 22 43578990 43578991 + Frame_Shift_Ins INS - - G rs34872708 TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr22:43578990_43578991insG ENST00000216129.6 - 2 405_406 c.342_343insC c.(340-345)cccaacfs p.N115fs NM_015140.3 NP_055955.1 Q14166 TTL12_HUMAN tubulin tyrosine ligase-like family, member 12 115 protein modification process tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 13 Ovarian(80;0.221)|Glioma(61;0.222) TCCTACCTGTTGGGGTGGGCTG 0.639 18 32 --- --- --- ---