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 HUWE1 10075 broad.mit.edu 37 X 53588818 53588818 + Missense_Mutation SNP T T C TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b7d38f1-4383-4d92-bb51-1943a60fb07f 9f198537-b3e9-4047-96d3-69814d9b93db g.chrX:53588818T>C ENST00000342160.3 - 54 7863 c.7406A>G c.(7405-7407)gAg>gGg p.E2469G HUWE1_ENST00000262854.6_Missense_Mutation_p.E2469G Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 2469 Asp-rich.|Glu-rich. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 AGGATAATCCTCATCCAATTC 0.468000 12 63 0 0 1 0 0 TYW1 55253 broad.mit.edu 37 7 66479413 66479413 + Silent SNP T T C rs145686658 by1000genomes TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b7d38f1-4383-4d92-bb51-1943a60fb07f 9f198537-b3e9-4047-96d3-69814d9b93db g.chr7:66479413T>C ENST00000359626.5 + 5 599 c.435T>C c.(433-435)acT>acC p.T145T NM_018264.2 NP_060734.2 Q9NV66 TYW1_HUMAN tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) 145 Flavodoxin-like. tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity p.T145T(1) breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2) 46 Lung NSC(55;0.0846)|all_lung(88;0.183) GCCTACCAACTGAAAGTGCAG 0.428000 4 80 0 0 1 0 0 PRICKLE3 4007 broad.mit.edu 37 X 49034506 49034506 + Missense_Mutation SNP G G A rs148273554 TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b7d38f1-4383-4d92-bb51-1943a60fb07f 9f198537-b3e9-4047-96d3-69814d9b93db g.chrX:49034506G>A ENST00000376317.3 - 7 885 c.791C>T c.(790-792)aCg>aTg p.T264M PRICKLE3_ENST00000536904.1_Missense_Mutation_p.T183M|PRICKLE3_ENST00000538114.1_Splice_Site_p.T251_splice|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.T196M NM_006150.3 NP_006141.2 O43900 PRIC3_HUMAN prickle homolog 3 (Drosophila) 264 LIM zinc-binding 2. protein binding|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2) 22 CTCAGCCTCCGTGCACTCAGG 0.632000 15 21 0 0 1 0 0 CHERP 10523 broad.mit.edu 37 19 16640583 16640583 + Silent SNP C C T TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b7d38f1-4383-4d92-bb51-1943a60fb07f 9f198537-b3e9-4047-96d3-69814d9b93db g.chr19:16640583C>T ENST00000546361.2 - 8 1156 c.1005G>A c.(1003-1005)caG>caA p.Q335Q CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Silent_p.Q346Q NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 335 Gln-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 gctgctgttgctgctgctgct 0.667000 3 32 0 0 1 0 0 TMC7 79905 broad.mit.edu 37 16 19063129 19063129 + Missense_Mutation SNP G G A TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b7d38f1-4383-4d92-bb51-1943a60fb07f 9f198537-b3e9-4047-96d3-69814d9b93db g.chr16:19063129G>A ENST00000421369.3 + 13 2090 c.1532G>A c.(1531-1533)aGc>aAc p.S511N TMC7_ENST00000304381.5_Missense_Mutation_p.S621N|TMC7_ENST00000569532.1_Missense_Mutation_p.S621N NM_001160364.1 NP_001153836.1 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 621 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 CTGACAATCAGCATATCACGG 0.403000 4 167 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64450466 64450466 + Silent SNP G G A TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b7d38f1-4383-4d92-bb51-1943a60fb07f 9f198537-b3e9-4047-96d3-69814d9b93db g.chr14:64450466G>A ENST00000358025.3 + 18 2243 c.2013G>A c.(2011-2013)ctG>ctA p.L671L SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Silent_p.L671L|SYNE2_ENST00000554584.1_Silent_p.L671L NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 671 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AAATGAACCTGCCACTGATGA 0.284000 8 46 0 0 1 0 0 RXRB 6257 broad.mit.edu 37 6 33163151 33163151 + Missense_Mutation SNP A A G TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b7d38f1-4383-4d92-bb51-1943a60fb07f 9f198537-b3e9-4047-96d3-69814d9b93db g.chr6:33163151A>G ENST00000374680.3 - 8 1548 c.1337T>C c.(1336-1338)cTg>cCg p.L446P RXRB_ENST00000374685.4_Missense_Mutation_p.L450P|RXRB_ENST00000544186.1_Missense_Mutation_p.L260P NM_001270401.1|NM_021976.4 NP_001257330.1|NP_068811.1 P28702 RXRB_HUMAN retinoid X receptor, beta 446 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2) 15 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) TGGATTAAACAGAATGATTGC 0.527000 27 40 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129913862 129913862 + Silent SNP G G A TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b7d38f1-4383-4d92-bb51-1943a60fb07f 9f198537-b3e9-4047-96d3-69814d9b93db g.chr10:129913862G>A ENST00000368654.3 - 7 1185 c.810C>T c.(808-810)taC>taT p.Y270Y MKI67_ENST00000368653.3_Intron NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 270 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TCTCTGTTGCGTAATCAGTTT 0.428000 3 37 0 0 1 0 0 ME3 10873 broad.mit.edu 37 11 86382833 86382833 + Missense_Mutation SNP C C T TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b7d38f1-4383-4d92-bb51-1943a60fb07f 9f198537-b3e9-4047-96d3-69814d9b93db g.chr11:86382833C>T ENST00000543262.1 - 2 480 c.154G>A c.(154-156)Gat>Aat p.D52N ME3_ENST00000359636.2_Missense_Mutation_p.D52N|ME3_ENST00000393324.3_Missense_Mutation_p.D52N NM_001161586.1 NP_001155058.1 Q16798 MAON_HUMAN malic enzyme 3, NADP(+)-dependent, mitochondrial 52 aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process mitochondrial matrix malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1) 27 Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252) NADH(DB00157) CTGGTGACATCGTATCCGCGC 0.701000 6 54 0 0 1 0 0 SLC22A12 116085 broad.mit.edu 37 11 64359373 64359373 + Silent SNP G G A TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b7d38f1-4383-4d92-bb51-1943a60fb07f 9f198537-b3e9-4047-96d3-69814d9b93db g.chr11:64359373G>A ENST00000377574.1 + 1 1092 c.345G>A c.(343-345)ccG>ccA p.P115P SLC22A12_ENST00000377567.2_Silent_p.P115P|SLC22A12_ENST00000377572.1_Silent_p.P115P|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000336464.7_Silent_p.P115P NM_144585.2 NP_653186.2 Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 115 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 ACACGGAGCCGTGTGTGGATG 0.662000 26 3 0 0 1 0 0 KLRC2 3822 broad.mit.edu 37 12 10587970 10587970 + Missense_Mutation SNP A A T TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b7d38f1-4383-4d92-bb51-1943a60fb07f 9f198537-b3e9-4047-96d3-69814d9b93db g.chr12:10587970A>T ENST00000381902.2 - 2 233 c.227T>A c.(226-228)cTa>cAa p.L76Q KLRC2_ENST00000381901.1_Missense_Mutation_p.L76Q|NKG2-E_ENST00000539033.1_Missense_Mutation_p.L76Q|KLRC2_ENST00000536833.2_Missense_Mutation_p.L17Q NM_002260.3 NP_002251.2 P26717 NKG2C_HUMAN killer cell lectin-like receptor subfamily C, member 2 76 cellular defense response integral to plasma membrane sugar binding|transmembrane receptor activity kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 AATGATTCCTAGGACCTCGGC 0.423000 32 79 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b7d38f1-4383-4d92-bb51-1943a60fb07f 9f198537-b3e9-4047-96d3-69814d9b93db g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 35 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21474265 21474265 + Missense_Mutation SNP G G A TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b7d38f1-4383-4d92-bb51-1943a60fb07f 9f198537-b3e9-4047-96d3-69814d9b93db g.chr18:21474265G>A ENST00000313654.9 + 43 5655 c.5414G>A c.(5413-5415)tGc>tAc p.C1805Y LAMA3_ENST00000587184.1_Missense_Mutation_p.C196Y|LAMA3_ENST00000399516.3_Missense_Mutation_p.C1805Y|LAMA3_ENST00000269217.6_Missense_Mutation_p.C196Y NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1805 Domain III A.|Laminin EGF-like 15; truncated. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATTTTAGACTGCATAAACCAA 0.373000 3 36 0 0 1 0 0 TEX10 54881 broad.mit.edu 37 9 103109543 103109543 + Missense_Mutation SNP T T A TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b7d38f1-4383-4d92-bb51-1943a60fb07f 9f198537-b3e9-4047-96d3-69814d9b93db g.chr9:103109543T>A ENST00000374902.4 - 3 502 c.326A>T c.(325-327)gAt>gTt p.D109V TEX10_ENST00000537512.1_Missense_Mutation_p.D44V|TEX10_ENST00000535814.1_Missense_Mutation_p.D112V NM_017746.3 NP_060216.2 Q9NXF1 TEX10_HUMAN testis expressed 10 109 integral to membrane|MLL1 complex|nuclear membrane|nucleolus binding NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 38 Acute lymphoblastic leukemia(62;0.0527) OV - Ovarian serous cystadenocarcinoma(323;0.157) AGCATCTTTATCTGTAAACAC 0.368000 24 136 0 0 1 0 0 VPRBP 9730 broad.mit.edu 37 3 51455620 51455620 + Missense_Mutation SNP C C A TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b7d38f1-4383-4d92-bb51-1943a60fb07f 9f198537-b3e9-4047-96d3-69814d9b93db g.chr3:51455620C>A ENST00000335891.5 - 9 2130 c.2121G>T c.(2119-2121)tgG>tgT p.W707C Q9Y4B6 VPRBP_HUMAN Vpr (HIV-1) binding protein 1156 interspecies interaction between organisms cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) AAGGCTGGCTCCAAGTAGCAG 0.423000 3 9 0.004672 0.004672 1 1 0 RSRC2 65117 broad.mit.edu 37 12 122999719 122999724 + In_Frame_Del DEL TCCGGC TCCGGC - TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b7d38f1-4383-4d92-bb51-1943a60fb07f 9f198537-b3e9-4047-96d3-69814d9b93db g.chr12:122999719_122999724delTCCGGC ENST00000331738.7 - 6 798_803 c.653_658delGCCGGA c.(652-660)act>a p.SRT218del RSRC2_ENST00000354654.2_In_Frame_Del_p.SRT170del NM_023012.5 NP_075388.2 Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 218 p.S218S(1) 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) GGACTTGGAGTCCGGCTTAAACTTCT 0.383 8 72 --- --- --- --- KRT17P6 284196 broad.mit.edu 37 17 20419214 20419214 + RNA DEL C C - TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b7d38f1-4383-4d92-bb51-1943a60fb07f 9f198537-b3e9-4047-96d3-69814d9b93db g.chr17:20419214delC ENST00000581013.1 - 0 319 GCTGCCCAAGCCCACAGCTAG 0.602 2 4 --- --- --- ---