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 CELSR2 1952 broad.mit.edu 37 1 109801499 109801499 + Silent SNP C C T TCGA-HC-A632-01A-11D-A29Q-08 TCGA-HC-A632-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62488eee-4473-454e-89d3-7102d7c34977 c00991ab-7597-4eaf-9574-ef30295beeb9 g.chr1:109801499C>T ENST00000271332.3 + 2 3817 c.3756C>T c.(3754-3756)tcC>tcT p.S1252S NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1252 EGF-like 1; calcium-binding. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) TCGACTCCTCCGCGCCCTTCA 0.692 7 29 --- --- --- --- CHI3L2 1117 broad.mit.edu 37 1 111783985 111783985 + Missense_Mutation SNP C C T TCGA-HC-A632-01A-11D-A29Q-08 TCGA-HC-A632-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62488eee-4473-454e-89d3-7102d7c34977 c00991ab-7597-4eaf-9574-ef30295beeb9 g.chr1:111783985C>T ENST00000445067.2 + 11 1726 c.955C>T c.(955-957)Ctc>Ttc p.L319F CHI3L2_ENST00000524472.1_Missense_Mutation_p.L240F|CHI3L2_ENST00000529459.1_3'UTR|CHI3L2_ENST00000369744.2_Missense_Mutation_p.L309F|CHI3L2_ENST00000466741.1_Missense_Mutation_p.L240F|CHI3L2_ENST00000369748.4_Missense_Mutation_p.L319F Q15782 CH3L2_HUMAN chitinase 3-like 2 319 chitin catabolic process extracellular space cation binding|chitinase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1) 19 all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141) GATCACGCGGCTCCAGGATCA 0.537 34 69 --- --- --- --- ARHGEF2 9181 broad.mit.edu 37 1 155931554 155931554 + Missense_Mutation SNP G G A TCGA-HC-A632-01A-11D-A29Q-08 TCGA-HC-A632-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62488eee-4473-454e-89d3-7102d7c34977 c00991ab-7597-4eaf-9574-ef30295beeb9 g.chr1:155931554G>A ENST00000462460.2 - 15 1755 c.1501C>T c.(1501-1503)Cca>Tca p.P501S ARHGEF2_ENST00000368316.1_Missense_Mutation_p.P428S|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.P428S|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.P456S|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.P455S|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.P457S|ARHGEF2_ENST00000477754.2_Intron Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 2 PH. actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2) 40 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) CCAGGCACTGGGGTTTGGGCC 0.602 22 82 --- --- --- --- CD1C 911 broad.mit.edu 37 1 158260938 158260938 + Missense_Mutation SNP G G A TCGA-HC-A632-01A-11D-A29Q-08 TCGA-HC-A632-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62488eee-4473-454e-89d3-7102d7c34977 c00991ab-7597-4eaf-9574-ef30295beeb9 g.chr1:158260938G>A ENST00000368170.3 + 2 355 c.76G>A c.(76-78)Gtc>Atc p.V26I NM_001765.2 NP_001756.2 P29017 CD1C_HUMAN CD1c molecule 26 antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) CCAGGAACACGTCTCCTTCCA 0.483 18 44 --- --- --- --- PARP1 142 broad.mit.edu 37 1 226555255 226555255 + Missense_Mutation SNP G G A TCGA-HC-A632-01A-11D-A29Q-08 TCGA-HC-A632-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62488eee-4473-454e-89d3-7102d7c34977 c00991ab-7597-4eaf-9574-ef30295beeb9 g.chr1:226555255G>A ENST00000366794.5 - 17 2475 c.2332C>T c.(2332-2334)Ctc>Ttc p.L778F PARP1_ENST00000490921.1_5'UTR NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 778 PARP alpha-helical. cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) CCTCCCCTGAGCAGACTGTAG 0.512 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 38 71 --- --- --- --- FAHD2A 51011 broad.mit.edu 37 2 96072721 96072721 + Missense_Mutation SNP G G A TCGA-HC-A632-01A-11D-A29Q-08 TCGA-HC-A632-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62488eee-4473-454e-89d3-7102d7c34977 c00991ab-7597-4eaf-9574-ef30295beeb9 g.chr2:96072721G>A ENST00000233379.4 + 3 431 c.278G>A c.(277-279)cGg>cAg p.R93Q FAHD2A_ENST00000447036.1_Missense_Mutation_p.R93Q NM_016044.2 NP_057128.2 Q96GK7 FAH2A_HUMAN fumarylacetoacetate hydrolase domain containing 2A 93 hydrolase activity|metal ion binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1) 8 GTCCTACCACGGTCGGAGGTA 0.597 16 36 --- --- --- --- LRP1B 53353 broad.mit.edu 37 2 140990833 140990833 + Missense_Mutation SNP G G T TCGA-HC-A632-01A-11D-A29Q-08 TCGA-HC-A632-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62488eee-4473-454e-89d3-7102d7c34977 c00991ab-7597-4eaf-9574-ef30295beeb9 g.chr2:140990833G>T ENST00000389484.3 - 91 14693 c.13722C>A c.(13720-13722)aaC>aaA p.N4574K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4574 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTCCTAAGGAGTTTCGACAGT 0.323 TSP Lung(27;0.18) 9 14 --- --- --- --- RAB33B 83452 broad.mit.edu 37 4 140393995 140393995 + Silent SNP T T C TCGA-HC-A632-01A-11D-A29Q-08 TCGA-HC-A632-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62488eee-4473-454e-89d3-7102d7c34977 c00991ab-7597-4eaf-9574-ef30295beeb9 g.chr4:140393995T>C ENST00000305626.5 + 2 794 c.405T>C c.(403-405)caT>caC p.H135H NM_031296.1 NP_112586.1 Q9H082 RB33B_HUMAN RAB33B, member RAS oncogene family 135 protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 4 all_hematologic(180;0.162) GCAAACAACATTTGCTAGCCA 0.393 53 75 --- --- --- --- ZNF827 152485 broad.mit.edu 37 4 146824152 146824152 + Missense_Mutation SNP C C A TCGA-HC-A632-01A-11D-A29Q-08 TCGA-HC-A632-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62488eee-4473-454e-89d3-7102d7c34977 c00991ab-7597-4eaf-9574-ef30295beeb9 g.chr4:146824152C>A ENST00000508784.1 - 2 486 c.259G>T c.(259-261)Gac>Tac p.D87Y ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Missense_Mutation_p.D87Y Q17R98 ZN827_HUMAN zinc finger protein 827 87 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) ACCTCACTGTCCAGTGCCACC 0.602 27 40 --- --- --- --- GCNT2 2651 broad.mit.edu 37 6 10529594 10529594 + Silent SNP T T A TCGA-HC-A632-01A-11D-A29Q-08 TCGA-HC-A632-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62488eee-4473-454e-89d3-7102d7c34977 c00991ab-7597-4eaf-9574-ef30295beeb9 g.chr6:10529594T>A ENST00000379597.3 + 1 1006 c.450T>A c.(448-450)gcT>gcA p.A150A GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Silent_p.A150A Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 150 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) TCCCAAATGCTTTTCTGGCTT 0.512 39 56 --- --- --- --- POLR3A 11128 broad.mit.edu 37 10 79742556 79742556 + Missense_Mutation SNP C C T TCGA-HC-A632-01A-11D-A29Q-08 TCGA-HC-A632-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62488eee-4473-454e-89d3-7102d7c34977 c00991ab-7597-4eaf-9574-ef30295beeb9 g.chr10:79742556C>T ENST00000372371.3 - 27 3586 c.3449G>A c.(3448-3450)aGa>aAa p.R1150K NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 1150 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) GATGGAATATCTCACTGTCTC 0.507 5 58 --- --- --- --- OR4A16 81327 broad.mit.edu 37 11 55111605 55111605 + Missense_Mutation SNP G G A TCGA-HC-A632-01A-11D-A29Q-08 TCGA-HC-A632-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62488eee-4473-454e-89d3-7102d7c34977 c00991ab-7597-4eaf-9574-ef30295beeb9 g.chr11:55111605G>A ENST00000314721.2 + 1 979 c.929G>A c.(928-930)aGa>aAa p.R310K NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 GTTAGAAAAAGAGTATCTCCC 0.348 7 36 --- --- --- --- LTBR 4055 broad.mit.edu 37 12 6494476 6494476 + Missense_Mutation SNP T T G TCGA-HC-A632-01A-11D-A29Q-08 TCGA-HC-A632-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62488eee-4473-454e-89d3-7102d7c34977 c00991ab-7597-4eaf-9574-ef30295beeb9 g.chr12:6494476T>G ENST00000228918.4 + 4 729 c.403T>G c.(403-405)Tgg>Ggg p.W135G LTBR_ENST00000543190.1_Missense_Mutation_p.W28G|LTBR_ENST00000539925.1_Missense_Mutation_p.W116G|LTBR_ENST00000541102.1_Missense_Mutation_p.W28G NM_002342.2 NP_002333.1 P36941 TNR3_HUMAN lymphotoxin beta receptor (TNFR superfamily, member 3) 135 apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane protein binding|receptor activity breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 CTGTGCTGCCTGGGCCCTCGA 0.622 29 65 --- --- --- --- USP15 9958 broad.mit.edu 37 12 62777656 62777656 + Silent SNP A A G TCGA-HC-A632-01A-11D-A29Q-08 TCGA-HC-A632-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62488eee-4473-454e-89d3-7102d7c34977 c00991ab-7597-4eaf-9574-ef30295beeb9 g.chr12:62777656A>G ENST00000280377.5 + 10 1183 c.1125A>G c.(1123-1125)ggA>ggG p.G375G USP15_ENST00000393654.3_Silent_p.G350G|USP15_ENST00000353364.3_Silent_p.G346G NM_001252078.1 NP_001239007.1 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 375 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) AGTTCTCTGGATATCAGCAGC 0.348 24 42 --- --- --- --- NR2E3 10002 broad.mit.edu 37 15 72105883 72105883 + RNA SNP G G T TCGA-HC-A632-01A-11D-A29Q-08 TCGA-HC-A632-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62488eee-4473-454e-89d3-7102d7c34977 c00991ab-7597-4eaf-9574-ef30295beeb9 g.chr15:72105883G>T ENST00000398840.2 + 0 1092 Q9Y5X4 NR2E3_HUMAN nuclear receptor subfamily 2, group E, member 3 phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|endometrium(1)|lung(1) 3 ATGGAGACGCGTGTCCTGCAG 0.647 3 37 --- --- --- --- TBCD 6904 broad.mit.edu 37 17 80847559 80847559 + Missense_Mutation SNP A A G TCGA-HC-A632-01A-11D-A29Q-08 TCGA-HC-A632-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62488eee-4473-454e-89d3-7102d7c34977 c00991ab-7597-4eaf-9574-ef30295beeb9 g.chr17:80847559A>G ENST00000355528.4 + 16 1679 c.1549A>G c.(1549-1551)Aat>Gat p.N517D TBCD_ENST00000539345.2_Missense_Mutation_p.N517D|TBCD_ENST00000397466.2_Missense_Mutation_p.N131D NM_005993.4 NP_005984.3 Q9BTW9 TBCD_HUMAN tubulin folding cofactor D 517 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) CTTCCAGGAGAATGTGGGGAG 0.502 6 34 --- --- --- --- CCDC11 220136 broad.mit.edu 37 18 47753887 47753887 + Missense_Mutation SNP C C T rs147186159 by1000genomes TCGA-HC-A632-01A-11D-A29Q-08 TCGA-HC-A632-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62488eee-4473-454e-89d3-7102d7c34977 c00991ab-7597-4eaf-9574-ef30295beeb9 g.chr18:47753887C>T ENST00000398545.4 - 8 1526 c.1409G>A c.(1408-1410)cGc>cAc p.R470H NM_145020.3 NP_659457.2 Q96M91 CCD11_HUMAN coiled-coil domain containing 11 470 endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1) 20 STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164) AAACTCTCGGCGTTTCTCTTC 0.502 28 157 --- --- --- --- DNAJC28 54943 broad.mit.edu 37 21 34861298 34861298 + Missense_Mutation SNP G G A TCGA-HC-A632-01A-11D-A29Q-08 TCGA-HC-A632-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62488eee-4473-454e-89d3-7102d7c34977 c00991ab-7597-4eaf-9574-ef30295beeb9 g.chr21:34861298G>A ENST00000314399.3 - 2 841 c.403C>T c.(403-405)Cat>Tat p.H135Y DNAJC28_ENST00000381947.3_Missense_Mutation_p.H135Y|DNAJC28_ENST00000402202.1_Missense_Mutation_p.H135Y NM_017833.3 NP_060303.2 Q9NX36 DJC28_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 28 135 heat shock protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1) 18 CTTAAATAATGTCGGTGTTGG 0.403 16 48 --- --- --- --- GGA1 26088 broad.mit.edu 37 22 38028487 38028487 + Missense_Mutation SNP A A G TCGA-HC-A632-01A-11D-A29Q-08 TCGA-HC-A632-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62488eee-4473-454e-89d3-7102d7c34977 c00991ab-7597-4eaf-9574-ef30295beeb9 g.chr22:38028487A>G ENST00000406772.1 + 17 2207 c.1555A>G c.(1555-1557)Atc>Gtc p.I519V GGA1_ENST00000337437.4_Missense_Mutation_p.I559V|GGA1_ENST00000343632.4_Missense_Mutation_p.I592V|GGA1_ENST00000325180.8_Missense_Mutation_p.I505V|GGA1_ENST00000381756.5_Missense_Mutation_p.I609V NM_001172688.1 NP_001166159.1 Q9UJY5 GGA1_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 1 592 GAE. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|Golgi apparatus part protein binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 10 Melanoma(58;0.0574) CCCCTCAGCAATCACCCAGGT 0.637 16 162 --- --- --- --- XG 7499 broad.mit.edu 37 X 2726251 2726251 + Silent SNP C C T TCGA-HC-A632-01A-11D-A29Q-08 TCGA-HC-A632-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62488eee-4473-454e-89d3-7102d7c34977 c00991ab-7597-4eaf-9574-ef30295beeb9 g.chrX:2726251C>T ENST00000426774.1 + 8 625 c.402C>T c.(400-402)ggC>ggT p.G134G XG_ENST00000419513.2_Silent_p.G148G|XG_ENST00000381174.5_Silent_p.G133G NM_001141920.1|NM_175569.2 NP_001135392.1|NP_780778.1 P55808 XG_HUMAN Xg blood group 133 integral to membrane|plasma membrane endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 8 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) CAACGTATGGCAATCCAGAAG 0.493 3 22 --- --- --- ---