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 PTPRD 5789 broad.mit.edu 37 9 8454579 8454579 + Splice_Site SNP C C A TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr9:8454579C>A ENST00000355233.5 - 18 2760 c.e18+1 PTPRD_ENST00000486161.1_Splice_Site|PTPRD_ENST00000356435.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Splice_Site|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000381196.4_Intron|PTPRD_ENST00000540109.1_Intron|PTPRD_ENST00000360074.4_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Intron NM_130391.3|NM_130392.3|NM_130393.3 NP_569075.2|NP_569076.2|NP_569077.2 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 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) CTATTCCTCACCTGTCGGGTT 0.408000 TSP Lung(15;0.13) 5 18 5.18039e-06 5.58937e-06 0.038147 1 0 SLC35G3 146861 broad.mit.edu 37 17 33520358 33520358 + Silent SNP A A G rs74740601 by1000genomes TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr17:33520358A>G ENST00000297307.5 - 1 1054 c.969T>C c.(967-969)atT>atC p.I323I NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 323 DUF6 2. integral to membrane p.I323I(1) TCTGGGCTGTAATGATGGCAA 0.547000 4 85 0 0 0.009096 0 0 WT1-AS 0 broad.mit.edu 37 11 32460511 32460511 + RNA SNP T T C TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr11:32460511T>C ENST00000395900.1 + 0 1389 WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000442957.1_RNA NR_023920.1 endometrium(1)|large_intestine(2)|lung(2)|prostate(1) 6 CGAAGGTGCATAATTATTGCA 0.532000 3 27 0 0 0.009096 0 0 CT45A5 441521 broad.mit.edu 37 X 134947924 134947924 + Missense_Mutation SNP A A T TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chrX:134947924A>T ENST00000370724.3 - 3 645 c.401T>A c.(400-402)aTc>aAc p.I134N CT45A5_ENST00000491480.1_Missense_Mutation_p.I134N|CT45A4_ENST00000420087.2_Intron NM_001007551.3|NM_001172288.1 NP_001007552.1|NP_001165759.1 Q6NSH3 CT455_HUMAN cancer/testis antigen family 45, member A5 134 endometrium(1)|large_intestine(2)|lung(6) 9 AAGGCATCGGATTTCCTTCAC 0.378000 35 55 0 0 0.059317 0 0 C19orf35 374872 broad.mit.edu 37 19 2278644 2278644 + Missense_Mutation SNP T T C TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr19:2278644T>C ENST00000342063.3 - 3 644 c.551A>G c.(550-552)gAc>gGc p.D184G NM_198532.2 NP_940934.1 Q6ZS72 CS035_HUMAN chromosome 19 open reading frame 35 184 large_intestine(1)|lung(5)|pancreas(1)|prostate(1) 8 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ATACAGGGCGTCCCCGCTCTC 0.726000 6 9 0 0 0.029380 0 0 EIF3F 8665 broad.mit.edu 37 11 8008855 8008855 + Translation_Start_Site SNP A A G TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr11:8008855A>G ENST00000537635.1 + 1 419 c.1A>G c.(1-3)Atg>Gtg p.M1V EIF3F_ENST00000533626.1_5'UTR O00303 EIF3F_HUMAN eukaryotic translation initiation factor 3, subunit F 0 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1) 13 Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CCTGATATTCATGAATGCTGT 0.522000 OREG0020726 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 90 130 0 0 0.139131 0 0 OR2T4 127074 broad.mit.edu 37 1 248525828 248525828 + Missense_Mutation SNP G G T TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr1:248525828G>T ENST00000366475.1 + 1 946 c.946G>T c.(946-948)Gtg>Ttg p.V316L NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 316 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCTCACTCCAGTGGTGAACCC 0.463000 73 100 1.356e-25 1.54434e-25 0.139131 1 0 ZNF384 0 broad.mit.edu 37 12 6781601 6781601 + Missense_Mutation SNP G G A TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr12:6781601G>A ENST00000396801.3 - 8 1216 c.1009C>T c.(1009-1011)Cgt>Tgt p.R337C ZNF384_ENST00000396795.1_Intron|ZNF384_ENST00000396799.2_Intron|ZNF384_ENST00000319770.3_Intron|ZNF384_ENST00000355772.4_Intron|ZNF384_ENST00000361959.3_Missense_Mutation_p.R337C NM_001135734.2 NP_001129206.1 Q8TF68 ZN384_HUMAN zinc finger protein 384 337 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/ZNF384(4) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1) 18 GAGTGGATACGGAGGTGCTGG 0.617000 T """EWSR1, TAF15 """ ALL 27 36 0 0 0.144211 0 0 ILF3 3609 broad.mit.edu 37 19 10798066 10798066 + Missense_Mutation SNP G G A TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr19:10798066G>A ENST00000449870.1 + 18 2433 c.2116G>A c.(2116-2118)Ggt>Agt p.G706S ILF3_ENST00000318511.3_Missense_Mutation_p.G702S|ILF3_ENST00000590261.1_Missense_Mutation_p.G702S|ILF3_ENST00000588657.1_Missense_Mutation_p.G706S NM_017620.2 NP_060090.2 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3, 90kDa 702 Interaction with PRMT1.|Poly-Gly. M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) TGCCAGTGGCGGTGGCGGCGG 0.627000 4 16 0 0 0.009096 0 0 GABRE 2564 broad.mit.edu 37 X 151138777 151138777 + Missense_Mutation SNP C C T rs61730040 byFrequency TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chrX:151138777C>T ENST00000370325.1 - 2 207 c.154G>A c.(154-156)Gag>Aag p.E52K GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.E52K P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 52 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.E52K(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) TTTGTTTCCTCAGAGAGGAGC 0.507000 7 170 0 0 0.038147 0 0 XRN1 54464 broad.mit.edu 37 3 142031581 142031581 + Silent SNP C C T TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr3:142031581C>T ENST00000264951.4 - 41 4794 c.4677G>A c.(4675-4677)tcG>tcA p.S1559S XRN1_ENST00000392981.2_Silent_p.S1547S NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 1559 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 AGAGATGAGACGACGAAGGCA 0.443000 5 120 0 0 0.014758 0 0 PPP4R1 9989 broad.mit.edu 37 18 9588150 9588150 + Silent SNP G G A TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr18:9588150G>A ENST00000400556.3 - 6 595 c.522C>T c.(520-522)tgC>tgT p.C174C PPP4R1_ENST00000580583.1_5'UTR|PPP4R1_ENST00000400555.3_Silent_p.C157C|RP11-881L2.1_ENST00000584109.1_RNA NM_001042388.2 NP_001035847.1 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 174 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity large_intestine(1)|skin(2) 3 TGAGGACAGGGCACACTTTGG 0.448000 3 32 0 0 0.115264 0 0 OR4A5 81318 broad.mit.edu 37 11 51411842 51411842 + Missense_Mutation SNP G G A TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr11:51411842G>A ENST00000319760.6 - 1 606 c.554C>T c.(553-555)gCa>gTa p.A185V NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 185 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) GTCAGTGCATGCCAGTTCCAG 0.423000 14 12 0 0 0.119110 0 0 RSRC2 65117 broad.mit.edu 37 12 123001975 123001975 + Missense_Mutation SNP C C T TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr12:123001975C>T ENST00000331738.7 - 5 546 c.401G>A c.(400-402)cGc>cAc p.R134H RSRC2_ENST00000354654.2_Missense_Mutation_p.R86H NM_023012.5 NP_075388.2 Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 134 Ser-rich. breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2) 24 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) ACTACGATGGCGTCTGAAATT 0.398000 3 28 0 0 0.115264 0 0 DRD5 0 broad.mit.edu 37 4 9784028 9784028 + Silent SNP T T C rs2227841 byFrequency TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr4:9784028T>C ENST00000304374.2 + 1 771 c.375T>C c.(373-375)acT>acC p.T125T NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 125 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) TGTGCTCCACTGCCTCCATCC 0.622000 3 37 0 0 0.115264 0 0 RNF7 9616 broad.mit.edu 37 3 141462360 141462360 + Missense_Mutation SNP T T G TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr3:141462360T>G ENST00000273480.3 + 2 323 c.185T>G c.(184-186)cTt>cGt p.L62R RNF7_ENST00000480908.1_Intron|RNF7_ENST00000393000.3_Missense_Mutation_p.L60V NM_014245.4|NM_183237.2 NP_055060.1|NP_899060.1 Q9UBF6 RBX2_HUMAN ring finger protein 7 62 anti-apoptosis|induction of apoptosis by oxidative stress|protein neddylation|response to redox state cytoplasm|nucleus copper ion binding|NEDD8 ligase activity|protein binding|zinc ion binding kidney(1)|lung(3)|upper_aerodigestive_tract(1) 5 GATGCCTGTCTTAGATGTCAA 0.358000 23 54 0 0 0.083992 0 0 SMG6 23293 broad.mit.edu 37 17 2203563 2203563 + Silent SNP G G T TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr17:2203563G>T ENST00000544865.1 - 2 901 c.391C>A c.(391-393)Cgg>Agg p.R131R SMG6_ENST00000263073.5_Silent_p.R162R Q86US8 EST1A_HUMAN SMG6 nonsense mediated mRNA decay factor 162 Interaction with telomeric DNA. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 TCCTCCACCCGACTGGCGGAT 0.468000 9 211 1.12685e-05 1.18464e-05 0.047766 1 0 TTK 7272 broad.mit.edu 37 6 80715612 80715612 + Missense_Mutation SNP A A G TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr6:80715612A>G ENST00000509894.1 + 2 881 c.52A>G c.(52-54)Aac>Gac p.N18D TTK_ENST00000369798.2_Missense_Mutation_p.N18D|TTK_ENST00000230510.3_Missense_Mutation_p.N18D P33981 TTK_HUMAN TTK protein kinase 18 mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) TTCCATAATGAACAAAGTGAG 0.313000 7 56 0 0 0.047766 0 0 CCNT1 904 broad.mit.edu 37 12 49087741 49087741 + Missense_Mutation SNP G G T TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr12:49087741G>T ENST00000261900.3 - 9 1478 c.1256C>A c.(1255-1257)gCa>gAa p.A419E NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 419 cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 GGCAGCATATGCATATTGTGA 0.463000 81 102 3.20846e-33 3.75849e-33 0.139131 1 0 KRT35 3886 broad.mit.edu 37 17 39635994 39635994 + Missense_Mutation SNP C C T TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr17:39635994C>T ENST00000246639.2 - 2 553 c.421G>A c.(421-423)Gag>Aag p.E141K KRT35_ENST00000393989.1_Missense_Mutation_p.E171K Q92764 KRT35_HUMAN keratin 35 171 Linker 1.|Rod. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.000286) TTGTCAATCTCCACCACCAGC 0.488000 20 146 0 0 0.055883 0 0 DSC3 1825 broad.mit.edu 37 18 28602425 28602425 + Silent SNP C C T TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr18:28602425C>T ENST00000434452.1 - 7 973 c.819G>A c.(817-819)ccG>ccA p.P273P DSC3_ENST00000360428.4_Silent_p.P273P NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 273 Cadherin 2. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) GCATTGTGTCCGGTTCATCTC 0.438000 22 34 0 0 0.083992 0 0 TMEM53 79639 broad.mit.edu 37 1 45120353 45120353 + Missense_Mutation SNP G G A TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr1:45120353G>A ENST00000372237.3 - 3 875 c.712C>T c.(712-714)Cgc>Tgc p.R238C TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372235.3_Missense_Mutation_p.R208C|TMEM53_ENST00000372244.3_Intron NM_024587.2 NP_078863.2 Q6P2H8 TMM53_HUMAN transmembrane protein 53 238 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1) 10 Acute lymphoblastic leukemia(166;0.155) AGGACCCGGCGTGCCAGGCGT 0.602000 31 48 0 0 0.054565 0 0 FAM187B 148109 broad.mit.edu 37 19 35719205 35719205 + Missense_Mutation SNP G G A TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr19:35719205G>A ENST00000324675.3 - 1 427 c.379C>T c.(379-381)Ccc>Tcc p.P127S NM_152481.1 NP_689694.1 Q17R55 F187B_HUMAN family with sequence similarity 187, member B 127 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 9 TTCTGCAGGGGCCTCTGACCC 0.562000 48 72 0 0 0.139131 0 0 OR4C3 256144 broad.mit.edu 37 11 48347139 48347139 + Missense_Mutation SNP A A G TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr11:48347139A>G ENST00000319856.4 + 1 668 c.647A>G c.(646-648)aAt>aGt p.N216S NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 189 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 GCCTGCACCAATACGTATGTC 0.507000 10 37 0 0 0.069234 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 33 0 0 0.009096 0 0 DUSP11 8446 broad.mit.edu 37 2 74007136 74007136 + Missense_Mutation SNP T T C rs2272051 by1000genomes TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr2:74007136T>C ENST00000443070.1 - 1 112 c.107A>G c.(106-108)gAc>gGc p.D36G DUSP11_ENST00000377706.4_5'UTR|DUSP11_ENST00000272444.3_Missense_Mutation_p.D36G O75319 DUS11_HUMAN dual specificity phosphatase 11 (RNA/RNP complex 1-interacting) 0 RNA processing nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1) 12 CAATGCCAAGTCGGCCAAAAG 0.622000 OREG0014714 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 28 0 0 0.009096 0 0 CT45A5 441521 broad.mit.edu 37 X 134947928 134947928 + Missense_Mutation SNP C C G TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chrX:134947928C>G ENST00000370724.3 - 3 641 c.397G>C c.(397-399)Gaa>Caa p.E133Q CT45A5_ENST00000491480.1_Missense_Mutation_p.E133Q|CT45A4_ENST00000420087.2_Intron NM_001007551.3|NM_001172288.1 NP_001007552.1|NP_001165759.1 Q6NSH3 CT455_HUMAN cancer/testis antigen family 45, member A5 133 p.E133*(1) endometrium(1)|large_intestine(2)|lung(6) 9 CATCGGATTTCCTTCACTACT 0.388000 35 57 0 0 0.054565 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 24 27 0 0 0.091800 0 0 TTC39C 125488 broad.mit.edu 37 18 21660663 21660663 + Nonsense_Mutation SNP T T A TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr18:21660663T>A ENST00000317571.3 + 5 811 c.575T>A c.(574-576)tTg>tAg p.L192* RP11-403A21.3_ENST00000578443.1_RNA|TTC39C_ENST00000304621.6_Nonsense_Mutation_p.L131*|TTC39C_ENST00000578150.1_3'UTR NM_001135993.1 NP_001129465.1 Q8N584 TT39C_HUMAN tetratricopeptide repeat domain 39C 192 binding breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 19 GAAGAGTCCTTGACTTCTGAT 0.448000 24 44 0 0 0.083992 0 0 KMT2E 55904 broad.mit.edu 37 7 104742494 104742495 + Frame_Shift_Ins INS - - A TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr7:104742494_104742495insA ENST00000334877.4 + 17 2583_2584 c.2049_2050insA c.(2047-2052)gatagafs p.DR683fs KMT2E_ENST00000311117.3_Frame_Shift_Ins_p.DR683fs|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000257745.4_Frame_Shift_Ins_p.DR683fs lysine (K)-specific methyltransferase 2E CTTCTCCTGATATAGAAGTTAC 0.381 13 69 --- --- --- --- CORO1B 57175 broad.mit.edu 37 11 67209168 67209168 + Frame_Shift_Del DEL G G - TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr11:67209168delG ENST00000545016.1 - 4 575 c.490delC c.(490-492)acfs p.H164fs CORO1B_ENST00000341356.5_Intron|CORO1B_ENST00000393893.1_Intron|CORO1B_ENST00000453768.2_Intron Q9BR76 COR1B_HUMAN coronin, actin binding protein, 1B 0 actin cytoskeleton organization actin cytoskeleton|cytoplasm actin filament binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) AGGGGTCCGTGGGGGGGGGGA 0.657 3 4 --- --- --- --- HERC2P9 0 broad.mit.edu 37 15 28913367 28913367 + RNA DEL T T - TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr15:28913367delT ENST00000528584.1 + 0 1224 NR_036443.1 TGAGTTCTCCTTTTTTTTTTT 0.308 2 4 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74394379 74394380 + RNA INS - - A rs142790741 by1000genomes TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr16:74394379_74394380insA ENST00000429810.2 - 0 435 TAGTCATCCTTAAACAAAATTC 0.347 4 2 --- --- --- --- NUDT11 0 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 4 8 --- --- --- --- RNF128 79589 broad.mit.edu 37 X 106016280 106016281 + Frame_Shift_Ins INS - - T TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chrX:106016280_106016281insT ENST00000255499.2 + 2 872_873 c.622_623insT c.(622-624)tttfs p.F208fs RNF128_ENST00000324342.3_Frame_Shift_Ins_p.F182fs NM_194463.1 NP_919445.1 Q8TEB7 RN128_HUMAN ring finger protein 128, E3 ubiquitin protein ligase 208 endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1) 11 TCACTATTCAATTTTTTTCGTT 0.391 49 90 --- --- --- ---