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 OR8K5 219453 broad.mit.edu 37 11 55926912 55926912 + Silent SNP G G A rs147115733 TCGA-RW-A68C-01A-11D-A35D-08 TCGA-RW-A68C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e70c54a-1063-4eaf-97f3-7fa8f05711e9 1afed359-ab74-4787-bffb-7f0635eba182 g.chr11:55926912G>A ENST00000313447.1 - 1 881 c.882C>T c.(880-882)aaC>aaT p.N294N NM_001004058.2 NP_001004058.2 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, member 5 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) TCACCTCTTCGTTTCTTAAGC 0.299000 3 36 0 0 1 0 0 BHLHE40 8553 broad.mit.edu 37 3 5024941 5024941 + Missense_Mutation SNP G G A TCGA-RW-A68C-01A-11D-A35D-08 TCGA-RW-A68C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e70c54a-1063-4eaf-97f3-7fa8f05711e9 1afed359-ab74-4787-bffb-7f0635eba182 g.chr3:5024941G>A ENST00000256495.3 + 5 1406 c.803G>A c.(802-804)aGg>aAg p.R268K NM_003670.2 NP_003661.1 O14503 BHE40_HUMAN basic helix-loop-helix family, member e40 268 Golgi apparatus|nucleolus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2) 12 CACGGACGCAGGTTCACGATG 0.552000 4 45 0 0 1 0 0 RP11-468E2.4 0 broad.mit.edu 37 14 24629074 24629074 + Splice_Site SNP C C T TCGA-RW-A68C-01A-11D-A35D-08 TCGA-RW-A68C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e70c54a-1063-4eaf-97f3-7fa8f05711e9 1afed359-ab74-4787-bffb-7f0635eba182 g.chr14:24629074C>T ENST00000558468.1 + 11 1326 c.1324_splice c.e11-1 p.G442_splice RNF31_ENST00000559275.1_Splice_Site_p.G816_splice|RNF31_ENST00000324103.6_Splice_Site_p.G967_splice|RNF31_ENST00000382687.3_Splice_Site_p.G816_splice p.G967G(1) CACCTTTAGGCGGCTGCCGAG 0.582000 4 141 0 0 1 0 0 KIAA0754 643314 broad.mit.edu 37 1 39878320 39878320 + Missense_Mutation SNP G G A TCGA-RW-A68C-01A-11D-A35D-08 TCGA-RW-A68C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e70c54a-1063-4eaf-97f3-7fa8f05711e9 1afed359-ab74-4787-bffb-7f0635eba182 g.chr1:39878320G>A ENST00000530275.1 + 1 2170 c.1975G>A c.(1975-1977)Ggg>Agg p.G659R MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 659 central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ATCAGAGGGAGGGGAGATGGA 0.428000 5 46 0 0 1 0 0 LARP1 23367 broad.mit.edu 37 5 154183828 154183828 + Missense_Mutation SNP T T A TCGA-RW-A68C-01A-11D-A35D-08 TCGA-RW-A68C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e70c54a-1063-4eaf-97f3-7fa8f05711e9 1afed359-ab74-4787-bffb-7f0635eba182 g.chr5:154183828T>A ENST00000336314.4 + 14 2300 c.2276T>A c.(2275-2277)aTg>aAg p.M759K NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 836 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GGCTGGGTGATGGATTCCCGT 0.557000 10 77 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8389380 8389380 + Missense_Mutation SNP G G T TCGA-RW-A68C-01A-11D-A35D-08 TCGA-RW-A68C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e70c54a-1063-4eaf-97f3-7fa8f05711e9 1afed359-ab74-4787-bffb-7f0635eba182 g.chr9:8389380G>T ENST00000381196.4 - 34 4781 c.4238C>A c.(4237-4239)gCc>gAc p.A1413D PTPRD_ENST00000355233.5_Missense_Mutation_p.A1007D|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1413D|PTPRD_ENST00000397611.3_Missense_Mutation_p.A1003D|PTPRD_ENST00000397617.3_Missense_Mutation_p.A1006D|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1400D|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1391D|PTPRD_ENST00000540109.1_Missense_Mutation_p.A1413D|PTPRD_ENST00000486161.1_Missense_Mutation_p.A1006D|PTPRD_ENST00000397606.3_Missense_Mutation_p.A1006D|PTPRD_ENST00000537002.1_Missense_Mutation_p.A1003D NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1413 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TATGTAGTTGGCATTCACATA 0.448000 TSP Lung(15;0.13) 7 89 8.12818e-05 8.53459e-05 1 1 0 TPTE2P6 374491 broad.mit.edu 37 13 25168432 25168432 + RNA SNP T T C rs149337771 by1000genomes TCGA-RW-A68C-01A-11D-A35D-08 TCGA-RW-A68C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e70c54a-1063-4eaf-97f3-7fa8f05711e9 1afed359-ab74-4787-bffb-7f0635eba182 g.chr13:25168432T>C ENST00000453498.1 + 0 1104 TTGAAACAGCTGGTGTATTAA 0.373000 3 28 0 0 1 0 0 PCYOX1 51449 broad.mit.edu 37 2 70485303 70485303 + Missense_Mutation SNP C C T TCGA-RW-A68C-01A-11D-A35D-08 TCGA-RW-A68C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e70c54a-1063-4eaf-97f3-7fa8f05711e9 1afed359-ab74-4787-bffb-7f0635eba182 g.chr2:70485303C>T ENST00000433351.2 + 1 35 c.7C>T c.(7-9)Cgc>Tgc p.R3C PCYOX1_ENST00000264441.5_Missense_Mutation_p.R3C|PCYOX1_ENST00000505044.2_Intron NM_016297.3 NP_057381.3 Q9UHG3 PCYOX_HUMAN prenylcysteine oxidase 1 3 prenylated protein catabolic process lysosome|very-low-density lipoprotein particle prenylcysteine oxidase activity breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6) 15 GGCCATGGGGCGCGTCGTCGC 0.731000 5 10 0 0 1 0 0 ADAM20 8748 broad.mit.edu 37 14 70989875 70989875 + Missense_Mutation SNP T T C TCGA-RW-A68C-01A-11D-A35D-08 TCGA-RW-A68C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e70c54a-1063-4eaf-97f3-7fa8f05711e9 1afed359-ab74-4787-bffb-7f0635eba182 g.chr14:70989875T>C ENST00000256389.3 - 2 1994 c.1750A>G c.(1750-1752)Atc>Gtc p.I584V RP11-486O13.4_ENST00000556646.1_lincRNA NM_003814.4 NP_003805.3 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 534 Cys-rich. proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) TGGGTGTTGATTTCTTGGTAG 0.423000 8 87 0 0 1 0 0 NDUFA10 4705 broad.mit.edu 37 2 240923039 240923039 + Silent SNP G G A TCGA-RW-A68C-01A-11D-A35D-08 TCGA-RW-A68C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e70c54a-1063-4eaf-97f3-7fa8f05711e9 1afed359-ab74-4787-bffb-7f0635eba182 g.chr2:240923039G>A ENST00000307300.4 - 11 1207 c.1185C>T c.(1183-1185)acC>acT p.T395T NDUFA10_ENST00000404554.1_Intron|NDUFA10_ENST00000252711.2_Intron O95299 NDUAA_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa 0 mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport mitochondrial matrix|mitochondrial respiratory chain complex I ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8) 16 all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202) NADH(DB00157) aggagcccacggtcagggcca 0.562000 5 9 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101186144 101186144 + Missense_Mutation SNP G G C TCGA-RW-A68C-01A-11D-A35D-08 TCGA-RW-A68C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e70c54a-1063-4eaf-97f3-7fa8f05711e9 1afed359-ab74-4787-bffb-7f0635eba182 g.chr1:101186144G>C ENST00000294728.2 + 2 278 c.177G>C c.(175-177)tgG>tgC p.W59C VCAM1_ENST00000370115.1_Missense_Mutation_p.W59C|VCAM1_ENST00000347652.2_Missense_Mutation_p.W59C|VCAM1_ENST00000370119.4_Intron NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 59 Ig-like C2-type 1. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) TTTTCTCTTGGAGAACCCAGA 0.473000 5 57 0 0 1 0 0 VAV1 7409 broad.mit.edu 37 19 6821671 6821671 + Silent SNP C C A rs141823895 byFrequency TCGA-RW-A68C-01A-11D-A35D-08 TCGA-RW-A68C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e70c54a-1063-4eaf-97f3-7fa8f05711e9 1afed359-ab74-4787-bffb-7f0635eba182 g.chr19:6821671C>A ENST00000304076.2 + 3 454 c.360C>A c.(358-360)atC>atA p.I120I VAV1_ENST00000539284.1_Silent_p.I55I|VAV1_ENST00000602142.1_Silent_p.I120I|VAV1_ENST00000599806.1_Silent_p.I65I|VAV1_ENST00000596764.1_Silent_p.I120I NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 120 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity p.I120I(1) biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 GGACCCCGATCGCCCAGAACA 0.627000 13 50 3.27435e-08 3.61902e-08 1 1 0 IFNA7 3444 broad.mit.edu 37 9 21202068 21202068 + Missense_Mutation SNP G G A rs140552953 byFrequency TCGA-RW-A68C-01A-11D-A35D-08 TCGA-RW-A68C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e70c54a-1063-4eaf-97f3-7fa8f05711e9 1afed359-ab74-4787-bffb-7f0635eba182 g.chr9:21202068G>A ENST00000239347.3 - 1 136 c.97C>T c.(97-99)Cgt>Tgt p.R33C NM_021057.2 NP_066401.2 P01567 IFNA7_HUMAN interferon, alpha 7 33 blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6) 12 GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CTCCTATTACGCAGGCTGTGG 0.512000 5 106 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-RW-A68C-01A-11D-A35D-08 TCGA-RW-A68C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e70c54a-1063-4eaf-97f3-7fa8f05711e9 1afed359-ab74-4787-bffb-7f0635eba182 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 45 0 0 1 0 0 SLC25A21 89874 broad.mit.edu 37 14 37198737 37198737 + Missense_Mutation SNP C C T TCGA-RW-A68C-01A-11D-A35D-08 TCGA-RW-A68C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e70c54a-1063-4eaf-97f3-7fa8f05711e9 1afed359-ab74-4787-bffb-7f0635eba182 g.chr14:37198737C>T ENST00000331299.5 - 5 820 c.305G>A c.(304-306)gGa>gAa p.G102E SLC25A21_ENST00000555449.1_Missense_Mutation_p.G102E NM_030631.3 NP_085134.1 Q9BQT8 ODC_HUMAN solute carrier family 25 (mitochondrial oxoadipate carrier), member 21 102 lysine catabolic process integral to membrane|mitochondrial inner membrane alpha-ketoglutarate transmembrane transporter activity|binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1) 9 Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213) Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149) GBM - Glioblastoma multiforme(112;0.00204) TGACACATATCCCAGCAATTT 0.318000 8 46 0 0 1 0 0 KRT39 390792 broad.mit.edu 37 17 39122806 39122806 + Missense_Mutation SNP T T A TCGA-RW-A68C-01A-11D-A35D-08 TCGA-RW-A68C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e70c54a-1063-4eaf-97f3-7fa8f05711e9 1afed359-ab74-4787-bffb-7f0635eba182 g.chr17:39122806T>A ENST00000355612.2 - 1 338 c.303A>T c.(301-303)caA>caT p.Q101H AC004231.2_ENST00000418393.1_RNA NM_213656.3 NP_998821.3 Q6A163 K1C39_HUMAN keratin 39 101 Coil 1A.|Rod. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 17 Breast(137;0.00043)|Ovarian(249;0.15) CGTTCAAGATTTGCATGGTCT 0.443000 5 144 0 0 1 0 0 OLFM3 118427 broad.mit.edu 37 1 102270459 102270459 + Missense_Mutation SNP C C T TCGA-RW-A68C-01A-11D-A35D-08 TCGA-RW-A68C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e70c54a-1063-4eaf-97f3-7fa8f05711e9 1afed359-ab74-4787-bffb-7f0635eba182 g.chr1:102270459C>T ENST00000370103.4 - 6 925 c.712G>A c.(712-714)Gac>Aac p.D238N OLFM3_ENST00000338858.5_Missense_Mutation_p.D258N|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR NM_058170.2 NP_477518.2 Q96PB7 NOE3_HUMAN olfactomedin 3 258 Olfactomedin-like. extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) GTATAACTGTCCATGTACCAG 0.373000 3 34 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1090952 1090954 + In_Frame_Del DEL ACC ACC - rs72655327 TCGA-RW-A68C-01A-11D-A35D-08 TCGA-RW-A68C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e70c54a-1063-4eaf-97f3-7fa8f05711e9 1afed359-ab74-4787-bffb-7f0635eba182 g.chr11:1090952_1090954delACC ENST00000441003.2 + 28 3874_3876 c.3847_3849delACC c.(3847-3849)del p.T1288del MUC2_ENST00000359061.5_In_Frame_Del_p.T1289del NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 1288 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) cttcaccactaccaccaccacca 0.616 2 4 --- --- --- ---