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 TNXB 7148 broad.mit.edu 37 6 32037914 32037914 + Silent SNP G G A TCGA-EM-A2CQ-01A-11D-A17V-08 TCGA-EM-A2CQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a10ad75-164b-40d4-81c1-e77e26e959b1 c61db865-9f07-42b6-854f-73e37b642f25 g.chr6:32037914G>A ENST00000375244.3 - 14 5469 c.5268C>T c.(5266-5268)gaC>gaT p.D1756D TNXB_ENST00000375247.2_Silent_p.D1756D P22105 TENX_HUMAN tenascin XB 1838 Fibronectin type-III 10. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CCGTGGTGCCGTCGGCAGTGA 0.617000 4 14 0 0 0.021553 0 0 NPC1L1 29881 broad.mit.edu 37 7 44578614 44578614 + Missense_Mutation SNP G G T TCGA-EM-A2CQ-01A-11D-A17V-08 TCGA-EM-A2CQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a10ad75-164b-40d4-81c1-e77e26e959b1 c61db865-9f07-42b6-854f-73e37b642f25 g.chr7:44578614G>T ENST00000289547.4 - 2 1437 c.1382C>A c.(1381-1383)gCa>gAa p.A461E NPC1L1_ENST00000546276.1_Missense_Mutation_p.A461E|NPC1L1_ENST00000381160.3_Missense_Mutation_p.A461E|NPC1L1_ENST00000423141.1_Missense_Mutation_p.A461E NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 461 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) GTTGCGCTGTGCTTCGGGCGA 0.592000 7 42 0.00198382 0.00330636 0.029380 1 0 ELF4 2000 broad.mit.edu 37 X 129200994 129200994 + Missense_Mutation SNP G G T TCGA-EM-A2CQ-01A-11D-A17V-08 TCGA-EM-A2CQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a10ad75-164b-40d4-81c1-e77e26e959b1 c61db865-9f07-42b6-854f-73e37b642f25 g.chrX:129200994G>T ENST00000308167.5 - 9 2073 c.1694C>A c.(1693-1695)aCc>aAc p.T565N ELF4_ENST00000335997.7_Missense_Mutation_p.T565N NM_001421.3 NP_001412.1 Q99607 ELF4_HUMAN E74-like factor 4 (ets domain transcription factor) 565 natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 22 CTCCCTCAGGGTCTCTTCAGG 0.612000 T ERG AML 41 111 4.67007e-22 8.60275e-22 0.104719 1 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-EM-A2CQ-01A-11D-A17V-08 TCGA-EM-A2CQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a10ad75-164b-40d4-81c1-e77e26e959b1 c61db865-9f07-42b6-854f-73e37b642f25 g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 7 10 2.0095e-06 3.51662e-06 0.029380 1 0 IGHV6-1 0 broad.mit.edu 37 14 106405640 106405640 + RNA SNP C C T TCGA-EM-A2CQ-01A-11D-A17V-08 TCGA-EM-A2CQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a10ad75-164b-40d4-81c1-e77e26e959b1 c61db865-9f07-42b6-854f-73e37b642f25 g.chr14:106405640C>T ENST00000390593.2 - 0 385 GCCGTGTCCTCGGGAGTCACA 0.507000 57 140 0 0 0.139131 0 0 CSMD2 114784 broad.mit.edu 37 1 34209059 34209059 + Silent SNP C C G TCGA-EM-A2CQ-01A-11D-A17V-08 TCGA-EM-A2CQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a10ad75-164b-40d4-81c1-e77e26e959b1 c61db865-9f07-42b6-854f-73e37b642f25 g.chr1:34209059C>G ENST00000373381.4 - 14 2171 c.1995G>C c.(1993-1995)gtG>gtC p.V665V NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 625 CUB 4. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ACTGAGGCTCCACGTCAATGT 0.597000 3 95 0 0 0.115264 0 0 DCHS2 54798 broad.mit.edu 37 4 155157321 155157321 + Missense_Mutation SNP T T C TCGA-EM-A2CQ-01A-11D-A17V-08 TCGA-EM-A2CQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a10ad75-164b-40d4-81c1-e77e26e959b1 c61db865-9f07-42b6-854f-73e37b642f25 g.chr4:155157321T>C ENST00000357232.3 - 25 7117 c.7118A>G c.(7117-7119)gAc>gGc p.D2373G NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 2373 Cadherin 21. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TGTCAAAGGGTCAATGAGGAA 0.403000 3 82 0 0 0.115264 0 0 COL6A2 0 broad.mit.edu 37 21 47545200 47545200 + Silent SNP C C T TCGA-EM-A2CQ-01A-11D-A17V-08 TCGA-EM-A2CQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a10ad75-164b-40d4-81c1-e77e26e959b1 c61db865-9f07-42b6-854f-73e37b642f25 g.chr21:47545200C>T ENST00000300527.4 + 24 1895 c.1791C>T c.(1789-1791)taC>taT p.Y597Y COL6A2_ENST00000397763.1_Silent_p.Y597Y|COL6A2_ENST00000409416.1_Silent_p.Y597Y|COL6A2_ENST00000357838.4_Silent_p.Y597Y|COL6A2_ENST00000310645.5_Silent_p.Y597Y NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 597 Nonhelical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) TCATGACCTACGTGAGGGAGA 0.687000 5 144 0 0 0.021553 0 0 MGAM 8972 broad.mit.edu 37 7 141758106 141758106 + Missense_Mutation SNP T T C TCGA-EM-A2CQ-01A-11D-A17V-08 TCGA-EM-A2CQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a10ad75-164b-40d4-81c1-e77e26e959b1 c61db865-9f07-42b6-854f-73e37b642f25 g.chr7:141758106T>C ENST00000475668.2 + 31 3851 c.3797T>C c.(3796-3798)aTg>aCg p.M1266T MGAM_ENST00000549489.2_Missense_Mutation_p.M1266T O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1266 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TATGATGAGATGGTGGCTGCC 0.498000 91 217 0 0 0.139131 0 0 TET3 200424 broad.mit.edu 37 2 74300714 74300714 + Missense_Mutation SNP C C T TCGA-EM-A2CQ-01A-11D-A17V-08 TCGA-EM-A2CQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a10ad75-164b-40d4-81c1-e77e26e959b1 c61db865-9f07-42b6-854f-73e37b642f25 g.chr2:74300714C>T ENST00000409262.3 + 2 2128 c.2128C>T c.(2128-2130)Cac>Tac p.H710Y NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 710 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 ATATTATACTCACTTGGGATC 0.413000 3 24 0 0 0.115264 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128742 45128742 + RNA SNP T T G rs34655963 by1000genomes TCGA-EM-A2CQ-01A-11D-A17V-08 TCGA-EM-A2CQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a10ad75-164b-40d4-81c1-e77e26e959b1 c61db865-9f07-42b6-854f-73e37b642f25 g.chr17:45128742T>G ENST00000575173.1 - 0 418 TAATGATTTTTATTATACTTT 0.328000 4 72 0 0 0.150653 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212711 26212711 + Missense_Mutation SNP G G A TCGA-EM-A2CQ-01A-11D-A17V-08 TCGA-EM-A2CQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a10ad75-164b-40d4-81c1-e77e26e959b1 c61db865-9f07-42b6-854f-73e37b642f25 g.chrX:26212711G>A ENST00000379034.1 + 2 897 c.748G>A c.(748-750)Gtt>Att p.V250I NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 250 MAGE. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 GGCCTTTGGCGTTGAATTGAA 0.517000 4 107 0 0 0.150653 0 0 TRNT1 51095 broad.mit.edu 37 3 3189629 3189629 + Silent SNP C C T TCGA-EM-A2CQ-01A-11D-A17V-08 TCGA-EM-A2CQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a10ad75-164b-40d4-81c1-e77e26e959b1 c61db865-9f07-42b6-854f-73e37b642f25 g.chr3:3189629C>T ENST00000251607.6 + 8 1198 c.1096C>T c.(1096-1098)Ctg>Ttg p.L366L TRNT1_ENST00000280591.6_Silent_p.L346L NM_182916.2 NP_886552.2 Q96Q11 TRNT1_HUMAN tRNA nucleotidyl transferase, CCA-adding, 1 366 protein targeting to mitochondrion|tRNA 3'-end processing mitochondrion ATP binding|tRNA adenylyltransferase activity|tRNA binding breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1) 12 Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011) ATGTGAACTACTGAAGTACCA 0.418000 21 60 0 0 0.069288 0 0 ADH7 131 broad.mit.edu 37 4 100341795 100341795 + Silent SNP A A G TCGA-EM-A2CQ-01A-11D-A17V-08 TCGA-EM-A2CQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a10ad75-164b-40d4-81c1-e77e26e959b1 c61db865-9f07-42b6-854f-73e37b642f25 g.chr4:100341795A>G ENST00000437033.2 - 6 1223 c.720T>C c.(718-720)tgT>tgC p.C240C ADH7_ENST00000476959.1_Silent_p.C260C|ADH7_ENST00000209665.4_Silent_p.C252C|ADH7_ENST00000482593.1_Silent_p.C183C P40394 ADH7_HUMAN alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide 252 ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1) 19 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) TGGGACTGATACACTCAGTGG 0.468000 3 106 0 0 0.150653 0 0 ROBO2 6092 broad.mit.edu 37 3 77626739 77626739 + Nonsense_Mutation SNP C C T TCGA-EM-A2CQ-01A-11D-A17V-08 TCGA-EM-A2CQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a10ad75-164b-40d4-81c1-e77e26e959b1 c61db865-9f07-42b6-854f-73e37b642f25 g.chr3:77626739C>T ENST00000461745.1 + 15 3202 c.2302C>T c.(2302-2304)Cag>Tag p.Q768* ROBO2_ENST00000332191.8_Nonsense_Mutation_p.Q768*|ROBO2_ENST00000487694.3_Nonsense_Mutation_p.Q784* NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 768 Fibronectin type-III 3. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TCCAGATCACCAGAATGGAAT 0.483000 3 51 0 0 0.115264 0 0 UPF3A 65110 broad.mit.edu 37 13 115047559 115047559 + Silent SNP C C T TCGA-EM-A2CQ-01A-11D-A17V-08 TCGA-EM-A2CQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a10ad75-164b-40d4-81c1-e77e26e959b1 c61db865-9f07-42b6-854f-73e37b642f25 g.chr13:115047559C>T ENST00000375299.3 + 2 327 c.271C>T c.(271-273)Ctg>Ttg p.L91L UPF3A_ENST00000351487.5_Silent_p.L91L NM_023011.3 NP_075387.1 Q9H1J1 REN3A_HUMAN UPF3 regulator of nonsense transcripts homolog A (yeast) 91 Required for interaction with UPF2. mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|nucleus|plasma membrane nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding p.L91L(8) autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 16 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2) GCTGCGCCCGCTGCCAGCACA 0.731000 3 8 0 0 0.115264 0 0 RP1-125I3.2 0 broad.mit.edu 37 1 26186960 26186960 + RNA DEL T T - TCGA-EM-A2CQ-01A-11D-A17V-08 TCGA-EM-A2CQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a10ad75-164b-40d4-81c1-e77e26e959b1 c61db865-9f07-42b6-854f-73e37b642f25 g.chr1:26186960delT ENST00000455431.1 + 0 263 AATTTTGTAATTTTTTTTTTT 0.552 3 5 --- --- --- ---