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 TRAV8-6 0 broad.mit.edu 37 14 22446888 22446888 + RNA SNP C C T rs2075483 by1000genomes TCGA-J8-A4HW-06A-11D-A257-08 TCGA-J8-A4HW-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd7d1d09-5c2b-414d-9ec2-e7a7d5665671 269e9978-ced5-4398-9523-947b064a3ca8 g.chr14:22446888C>T ENST00000390443.3 + 0 190 CCGCCCAGCTCAAGGTCCTGC 0.532000 OREG0022573 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 86 0 0 1 0 0 MED15 51586 broad.mit.edu 37 22 20891439 20891439 + Missense_Mutation SNP G G T TCGA-J8-A4HW-06A-11D-A257-08 TCGA-J8-A4HW-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd7d1d09-5c2b-414d-9ec2-e7a7d5665671 269e9978-ced5-4398-9523-947b064a3ca8 g.chr22:20891439G>T ENST00000263205.7 + 2 173 c.104G>T c.(103-105)aGt>aTt p.S35I MED15_ENST00000425759.2_5'UTR|MED15_ENST00000541476.1_Missense_Mutation_p.S9I|MED15_ENST00000382974.2_Missense_Mutation_p.S35I|MED15_ENST00000406969.1_Missense_Mutation_p.S9I|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000292733.7_Missense_Mutation_p.S35I NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 35 Interaction with SREBF1. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) GTGGCACACAGTAAATCCAGC 0.552000 11 65 9.70103e-10 1.02116e-09 1 1 0 POM121 9883 broad.mit.edu 37 7 72413896 72413896 + Missense_Mutation SNP A A G TCGA-J8-A4HW-06A-11D-A257-08 TCGA-J8-A4HW-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd7d1d09-5c2b-414d-9ec2-e7a7d5665671 269e9978-ced5-4398-9523-947b064a3ca8 g.chr7:72413896A>G ENST00000395270.1 + 14 3610 c.2569A>G c.(2569-2571)Acc>Gcc p.T857A POM121_ENST00000446813.1_Missense_Mutation_p.T857A|POM121_ENST00000257622.4_Missense_Mutation_p.T857A|POM121_ENST00000434423.2_Missense_Mutation_p.T1122A|POM121_ENST00000358357.3_Missense_Mutation_p.T857A NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1122 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore p.T857A(8) NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) AGGCTCCAGCACCACCACCGG 0.637000 4 44 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124332605 124332605 + Missense_Mutation SNP G G T TCGA-J8-A4HW-06A-11D-A257-08 TCGA-J8-A4HW-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd7d1d09-5c2b-414d-9ec2-e7a7d5665671 269e9978-ced5-4398-9523-947b064a3ca8 g.chr12:124332605G>T ENST00000409039.3 + 32 5583 c.5558G>T c.(5557-5559)tGt>tTt p.C1853F NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1853 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GGCTTGCTCTGTGTTGTCACC 0.587000 22 111 1.55795e-14 1.73105e-14 1 1 0 CYP19A1 0 broad.mit.edu 37 15 51520089 51520089 + Missense_Mutation SNP C C A TCGA-J8-A4HW-06A-11D-A257-08 TCGA-J8-A4HW-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd7d1d09-5c2b-414d-9ec2-e7a7d5665671 269e9978-ced5-4398-9523-947b064a3ca8 g.chr15:51520089C>A ENST00000396402.1 - 4 491 c.338G>T c.(337-339)aGc>aTc p.S113I CYP19A1_ENST00000557858.1_Missense_Mutation_p.S113I|CYP19A1_ENST00000396404.4_Missense_Mutation_p.S113I|CYP19A1_ENST00000405913.3_Missense_Mutation_p.S113I|CYP19A1_ENST00000559878.1_Missense_Mutation_p.S113I|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.S113I NM_000103.3 NP_000094.2 P11511 CP19A_HUMAN cytochrome P450, family 19, subfamily A, polypeptide 1 113 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 33 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) GAATCGAGAGCTGTAATGATT 0.443000 7 56 0.00198382 0.00198382 1 1 0 ANKMY1 51281 broad.mit.edu 37 2 241468502 241468502 + Missense_Mutation SNP T T A TCGA-J8-A4HW-06A-11D-A257-08 TCGA-J8-A4HW-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd7d1d09-5c2b-414d-9ec2-e7a7d5665671 269e9978-ced5-4398-9523-947b064a3ca8 g.chr2:241468502T>A ENST00000391987.1 - 5 1004 c.638A>T c.(637-639)aAt>aTt p.N213I ANKMY1_ENST00000401804.1_Missense_Mutation_p.N302I|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.N213I|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000405523.3_Intron Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 213 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) AGGGGTCTCATTGATTATGAA 0.512000 29 110 0 0 1 0 0 CABLES1 91768 broad.mit.edu 37 18 20774481 20774481 + Silent SNP G G A TCGA-J8-A4HW-06A-11D-A257-08 TCGA-J8-A4HW-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd7d1d09-5c2b-414d-9ec2-e7a7d5665671 269e9978-ced5-4398-9523-947b064a3ca8 g.chr18:20774481G>A ENST00000256925.7 + 3 987 c.987G>A c.(985-987)cgG>cgA p.R329R CABLES1_ENST00000400473.2_Silent_p.R2R|CABLES1_ENST00000420687.2_Silent_p.R64R|CABLES1_ENST00000585061.1_Intron NM_001100619.2 NP_001094089.1 Q8TDN4 CABL1_HUMAN Cdk5 and Abl enzyme substrate 1 329 Interacts with CDK3 (By similarity). blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division cytosol|nucleus cyclin-dependent protein kinase regulator activity|protein binding breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1) 11 all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127) AGAACATGCGGCAACACGATA 0.453000 3 34 0 0 1 0 0 OR5L1 219437 broad.mit.edu 37 11 55579307 55579307 + Missense_Mutation SNP G G A rs112907233 byFrequency TCGA-J8-A4HW-06A-11D-A257-08 TCGA-J8-A4HW-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd7d1d09-5c2b-414d-9ec2-e7a7d5665671 269e9978-ced5-4398-9523-947b064a3ca8 g.chr11:55579307G>A ENST00000333973.2 + 1 454 c.365G>A c.(364-366)cGc>cAc p.R122H NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) GCCTATGACCGCTTTGTGGCC 0.522000 21 125 0 0 1 0 0 OAS2 0 broad.mit.edu 37 12 113425106 113425106 + Silent SNP C C T TCGA-J8-A4HW-06A-11D-A257-08 TCGA-J8-A4HW-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd7d1d09-5c2b-414d-9ec2-e7a7d5665671 269e9978-ced5-4398-9523-947b064a3ca8 g.chr12:113425106C>T ENST00000392583.2 + 2 648 c.441C>T c.(439-441)aaC>aaT p.N147N OAS2_ENST00000449768.2_Silent_p.N147N|OAS2_ENST00000342315.4_Silent_p.N147N|RP1-71H24.1_ENST00000552784.1_RNA NM_002535.2 NP_002526.2 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2, 69/71kDa 147 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 CCGCCTTCAACGCTCTGAGTA 0.493000 9 37 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167645509 167645509 + Missense_Mutation SNP C C T TCGA-J8-A4HW-06A-11D-A257-08 TCGA-J8-A4HW-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd7d1d09-5c2b-414d-9ec2-e7a7d5665671 269e9978-ced5-4398-9523-947b064a3ca8 g.chr5:167645509C>T ENST00000519204.1 + 22 4368 c.4250C>T c.(4249-4251)gCg>gTg p.A1417V TENM2_ENST00000403607.2_Missense_Mutation_p.A1362V|TENM2_ENST00000518659.1_Missense_Mutation_p.A1538V|TENM2_ENST00000545108.1_Missense_Mutation_p.A1537V|TENM2_ENST00000520394.1_Missense_Mutation_p.A1299V teneurin transmembrane protein 2 GATGCCTACGCGACTGATGCC 0.502000 32 146 0 0 1 0 0 POMC 5443 broad.mit.edu 37 2 25384456 25384457 + In_Frame_Ins INS - - GCCGCTGCT rs10654394 byFrequency TCGA-J8-A4HW-06A-11D-A257-08 TCGA-J8-A4HW-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd7d1d09-5c2b-414d-9ec2-e7a7d5665671 269e9978-ced5-4398-9523-947b064a3ca8 g.chr2:25384456_25384457insGCCGCTGCT ENST00000405623.1 - 3 752_753 c.297_298insAGCAGCGGC c.(295-300)ggcagg>ggAGCAGCGGCcagg p.99_100GR>GAAAR POMC_ENST00000395826.2_In_Frame_Ins_p.99_100GR>GAAAR|POMC_ENST00000380794.1_In_Frame_Ins_p.99_100GR>GAAAR|POMC_ENST00000264708.3_In_Frame_Ins_p.99_100GR>GAAAR P01189 COLI_HUMAN proopiomelanocortin 99 Missing. cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure extracellular space|stored secretory granule hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1) 12 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108) TTCTGCCCTGCgccgctgctgc 0.728 5 7 --- --- --- --- MUC20 200958 broad.mit.edu 37 3 195447912 195447914 + In_Frame_Del DEL TTC TTC - TCGA-J8-A4HW-06A-11D-A257-08 TCGA-J8-A4HW-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd7d1d09-5c2b-414d-9ec2-e7a7d5665671 269e9978-ced5-4398-9523-947b064a3ca8 g.chr3:195447912_195447914delTTC ENST00000320736.6 + 1 160_162 c.34_36delTTC c.(34-36)del p.F14del MUC20_ENST00000436408.1_In_Frame_Del_p.F14del|MUC20_ENST00000485430.1_3'UTR|MUC20_ENST00000447234.2_In_Frame_Del_p.F14del NM_001098516.1|NM_152673.2 NP_001091986.1|NP_689886.2 Q8N307 MUC20_HUMAN mucin 20, cell surface associated 14 protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) TCTGCCCCTTTTCTTCTTCTGCT 0.611 3 4 --- --- --- --- TRERF1 55809 broad.mit.edu 37 6 42204106 42204108 + In_Frame_Del DEL TCC TCC - TCGA-J8-A4HW-06A-11D-A257-08 TCGA-J8-A4HW-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd7d1d09-5c2b-414d-9ec2-e7a7d5665671 269e9978-ced5-4398-9523-947b064a3ca8 g.chr6:42204106_42204108delTCC ENST00000541110.1 - 16 3529_3531 c.2961_2963delGGA c.(2959-2964)gac>ga p.ED987del TRERF1_ENST00000372922.4_In_Frame_Del_p.ED967del|TRERF1_ENST00000372917.4_In_Frame_Del_p.ED884del|TRERF1_ENST00000340840.2_In_Frame_Del_p.ED884del|TRERF1_ENST00000354325.2_In_Frame_Del_p.ED884del Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 967 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding p.D968N(1) breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TTCTTCCGGGtcctcctcctcct 0.527 2 4 --- --- --- --- CTC-260E6.6 0 broad.mit.edu 37 19 20262850 20262850 + RNA DEL T T - rs142097873 TCGA-J8-A4HW-06A-11D-A257-08 TCGA-J8-A4HW-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd7d1d09-5c2b-414d-9ec2-e7a7d5665671 269e9978-ced5-4398-9523-947b064a3ca8 g.chr19:20262850delT ENST00000593655.1 - 0 337 CTC-260E6.6_ENST00000586657.1_RNA TTCttttttcttttttttttt 0.468 2 4 --- --- --- ---