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 DNMT3A 1788 broad.mit.edu 37 2 25467186 25467186 + Silent SNP C C T TCGA-EJ-5501-01A-01D-1576-08 TCGA-EJ-5501-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab0baa4-2ef4-46d7-a5c1-33592870967f d259fcfd-635d-4ba9-9b74-ba6a211a00c5 g.chr2:25467186C>T ENST00000264709.3 - 15 2026 c.1689G>A c.(1687-1689)gtG>gtA p.V563V DNMT3A_ENST00000321117.5_Silent_p.V563V|DNMT3A_ENST00000380746.4_Silent_p.V374V|DNMT3A_ENST00000402667.1_Silent_p.V340V|DNMT3A_ENST00000474887.1_5'UTR NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 563 ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity). regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding p.V563V(1)|p.V374V(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCAAGAGGTCCACACACTCCA 0.627 """Mis, F, N, S""" AML 8 27 --- --- --- --- CD8A 925 broad.mit.edu 37 2 87015654 87015654 + Splice_Site SNP G G A TCGA-EJ-5501-01A-01D-1576-08 TCGA-EJ-5501-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab0baa4-2ef4-46d7-a5c1-33592870967f d259fcfd-635d-4ba9-9b74-ba6a211a00c5 g.chr2:87015654G>A ENST00000409511.2 - 8 1685 c.655C>T c.(655-657)Cgg>Tgg p.R219W CD8A_ENST00000409781.1_Splice_Site_p.R182W|CD8A_ENST00000352580.3_Splice_Site_p.R182W|CD8A_ENST00000283635.3_Splice_Site_p.R219W|CD8A_ENST00000456996.2_Splice_Site_p.R182W|CD8A_ENST00000538832.1_Splice_Site_p.R260W NM_001145873.1 NP_001139345.1 P01732 CD8A_HUMAN CD8a molecule 219 antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane|T cell receptor complex coreceptor activity|MHC class I protein binding p.R219W(1) lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 8 GAGACTCACCGGGGACATTTG 0.507 5 21 --- --- --- --- TUBA3D 113457 broad.mit.edu 37 2 132237011 132237011 + Silent SNP G G C TCGA-EJ-5501-01A-01D-1576-08 TCGA-EJ-5501-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab0baa4-2ef4-46d7-a5c1-33592870967f d259fcfd-635d-4ba9-9b74-ba6a211a00c5 g.chr2:132237011G>C ENST00000321253.6 + 3 464 c.357G>C c.(355-357)ctG>ctC p.L119L TUBA3D_ENST00000409047.2_3'UTR NM_080386.3 NP_525125.2 Q13748 TBA3C_HUMAN tubulin, alpha 3d 119 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity p.L119L(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 BRCA - Breast invasive adenocarcinoma(221;0.13) ACCTAGTCCTGGACCGGATCC 0.498 30 190 --- --- --- --- GPR78 27201 broad.mit.edu 37 4 8584289 8584289 + Missense_Mutation SNP C C T TCGA-EJ-5501-01A-01D-1576-08 TCGA-EJ-5501-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab0baa4-2ef4-46d7-a5c1-33592870967f d259fcfd-635d-4ba9-9b74-ba6a211a00c5 g.chr4:8584289C>T ENST00000382487.4 + 2 1117 c.700C>T c.(700-702)Cgg>Tgg p.R234W GPR78_ENST00000509216.1_3'UTR NM_080819.4 NP_543009.2 Q96P69 GPR78_HUMAN G protein-coupled receptor 78 234 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.R234W(1) central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 CCAGCAGAAGCGGCGCCGCCA 0.637 25 112 --- --- --- --- ANKH 56172 broad.mit.edu 37 5 14711313 14711313 + Missense_Mutation SNP T T C TCGA-EJ-5501-01A-01D-1576-08 TCGA-EJ-5501-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab0baa4-2ef4-46d7-a5c1-33592870967f d259fcfd-635d-4ba9-9b74-ba6a211a00c5 g.chr5:14711313T>C ENST00000284268.6 - 12 1802 c.1472A>G c.(1471-1473)aAt>aGt p.N491S ANKH_ENST00000535119.1_Missense_Mutation_p.N293S NM_054027.4 NP_473368.1 Q9HCJ1 ANKH_HUMAN ANKH inorganic pyrophosphate transport regulator 491 locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity p.N491S(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 GCCTTATTCATTCTCCTCTCT 0.532 51 176 --- --- --- --- MRPS30 10884 broad.mit.edu 37 5 44809374 44809374 + Missense_Mutation SNP C C G TCGA-EJ-5501-01A-01D-1576-08 TCGA-EJ-5501-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab0baa4-2ef4-46d7-a5c1-33592870967f d259fcfd-635d-4ba9-9b74-ba6a211a00c5 g.chr5:44809374C>G ENST00000507110.1 + 1 348 c.310C>G c.(310-312)Cgc>Ggc p.R104G NM_016640.3 NP_057724.2 Q9NP92 RT30_HUMAN mitochondrial ribosomal protein S30 104 apoptosis|translation mitochondrion|ribosome structural constituent of ribosome p.R104G(2) central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1) 20 Lung NSC(6;8.08e-07) GAATGCCGACCGCTGGTACCA 0.617 5 26 --- --- --- --- CTNNAL1 8727 broad.mit.edu 37 9 111735029 111735029 + Missense_Mutation SNP C C T TCGA-EJ-5501-01A-01D-1576-08 TCGA-EJ-5501-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab0baa4-2ef4-46d7-a5c1-33592870967f d259fcfd-635d-4ba9-9b74-ba6a211a00c5 g.chr9:111735029C>T ENST00000374595.4 - 9 1352 c.1273G>A c.(1273-1275)Gga>Aga p.G425R CTNNAL1_ENST00000325551.4_Missense_Mutation_p.G425R|CTNNAL1_ENST00000488130.1_5'UTR|CTNNAL1_ENST00000325580.6_Intron Q9UBT7 CTNL1_HUMAN catenin (cadherin-associated protein), alpha-like 1 425 cell adhesion|Rho protein signal transduction actin cytoskeleton|cytosol|plasma membrane cadherin binding|structural molecule activity p.G425R(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(157;0.0768) CCTTCTACTCCAGTAAGTTTT 0.398 29 107 --- --- --- --- AKAP3 10566 broad.mit.edu 37 12 4736294 4736294 + Missense_Mutation SNP T T C TCGA-EJ-5501-01A-01D-1576-08 TCGA-EJ-5501-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab0baa4-2ef4-46d7-a5c1-33592870967f d259fcfd-635d-4ba9-9b74-ba6a211a00c5 g.chr12:4736294T>C ENST00000545990.2 - 5 2298 c.1774A>G c.(1774-1776)Agt>Ggt p.S592G RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.S592G NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 592 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding p.S592G(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 AAGAAAACACTCCTTAGGTCC 0.468 21 92 --- --- --- --- MYL6 4637 broad.mit.edu 37 12 56552380 56552380 + Silent SNP G G A TCGA-EJ-5501-01A-01D-1576-08 TCGA-EJ-5501-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab0baa4-2ef4-46d7-a5c1-33592870967f d259fcfd-635d-4ba9-9b74-ba6a211a00c5 g.chr12:56552380G>A ENST00000536128.1 + 1 235 c.195G>A c.(193-195)caG>caA p.Q65Q MYL6_ENST00000548400.1_Intron|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000551589.1_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000549566.1_Silent_p.Q65Q|MYL6_ENST00000550697.1_Intron|MYL6_ENST00000548293.1_Intron|MYL6_ENST00000348108.4_Intron|MYL6_ENST00000547408.1_Intron P60660 MYL6_HUMAN myosin, light chain 6, alkali, smooth muscle and non-muscle 0 axon guidance|muscle filament sliding|skeletal muscle tissue development cytosol|unconventional myosin complex actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(18;0.0979) TTGTGGGTCAGAGTTTGTGGG 0.562 31 142 --- --- --- --- CLEC18B 497190 broad.mit.edu 37 16 74455141 74455141 + Missense_Mutation SNP G G A TCGA-EJ-5501-01A-01D-1576-08 TCGA-EJ-5501-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab0baa4-2ef4-46d7-a5c1-33592870967f d259fcfd-635d-4ba9-9b74-ba6a211a00c5 g.chr16:74455141G>A ENST00000339953.5 - 1 149 c.28C>T c.(28-30)Cgg>Tgg p.R10W NM_001011880.2 NP_001011880.2 Q6UXF7 CL18B_HUMAN C-type lectin domain family 18, member B 10 extracellular region sugar binding p.R10W(1) endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 AGATGCCCCCGGCCAGGGGAG 0.677 12 115 --- --- --- --- ENTHD2 146705 broad.mit.edu 37 17 79207799 79207799 + Silent SNP C C T TCGA-EJ-5501-01A-01D-1576-08 TCGA-EJ-5501-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab0baa4-2ef4-46d7-a5c1-33592870967f d259fcfd-635d-4ba9-9b74-ba6a211a00c5 g.chr17:79207799C>T ENST00000300714.3 - 5 414 c.357G>A c.(355-357)aaG>aaA p.K119K ENTHD2_ENST00000374769.2_5'UTR NM_144679.2 NP_653280.1 ENTH domain containing 2 p.K119K(1) CCGCGCGAACCTTCTGGTACA 0.662 4 39 --- --- --- --- CSE1L 1434 broad.mit.edu 37 20 47692015 47692015 + Silent SNP C C T TCGA-EJ-5501-01A-01D-1576-08 TCGA-EJ-5501-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab0baa4-2ef4-46d7-a5c1-33592870967f d259fcfd-635d-4ba9-9b74-ba6a211a00c5 g.chr20:47692015C>T ENST00000262982.2 + 12 1416 c.1293C>T c.(1291-1293)atC>atT p.I431I CSE1L_ENST00000396192.3_Silent_p.I375I|CSE1L_ENST00000542325.1_Silent_p.I214I NM_001256135.1|NM_001316.3 NP_001243064.1|NP_001307.2 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like (yeast) 431 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity p.I431I(1) breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 35 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) ATGCAGCCATCTACCTAGTGA 0.403 4 100 --- --- --- --- PICK1 9463 broad.mit.edu 37 22 38467745 38467745 + Missense_Mutation SNP C C T TCGA-EJ-5501-01A-01D-1576-08 TCGA-EJ-5501-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab0baa4-2ef4-46d7-a5c1-33592870967f d259fcfd-635d-4ba9-9b74-ba6a211a00c5 g.chr22:38467745C>T ENST00000404072.3 + 8 897 c.550C>T c.(550-552)Cac>Tac p.H184Y RP5-1039K5.13_ENST00000445483.1_RNA|PICK1_ENST00000356976.3_Missense_Mutation_p.H184Y NM_001039583.1|NM_001039584.1 NP_001034672.1|NP_001034673.1 Q9NRD5 PICK1_HUMAN protein interacting with PRKCA 1 184 AH. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding p.H184Y(1) cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Melanoma(58;0.045) GTCGCAGACTCACCGGGGTAA 0.617 17 106 --- --- --- --- MIR4485 100616263 broad.mit.edu 37 M 3063 3063 + RNA SNP G G A TCGA-EJ-5501-01A-01D-1576-08 TCGA-EJ-5501-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab0baa4-2ef4-46d7-a5c1-33592870967f d259fcfd-635d-4ba9-9b74-ba6a211a00c5 g.chrM:3063G>A ENST00000387347.2 + 0 1393 NR_039705.1 AAAGTCCTACGTGATCTGAGT 0.448 9 26 --- --- --- --- MT-ND5 4540 broad.mit.edu 37 M 12773 12773 + Missense_Mutation SNP G G A TCGA-EJ-5501-01A-01D-1576-08 TCGA-EJ-5501-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab0baa4-2ef4-46d7-a5c1-33592870967f d259fcfd-635d-4ba9-9b74-ba6a211a00c5 g.chrM:12773G>A ENST00000361567.2 + 1 437 c.437G>A c.(436-438)gGc>gAc p.G146D P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 146 G -> D. mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) CGGCTGAGAGGGCGTAGGAAT 0.418 6 20 --- --- --- --- TBC1D13 54662 broad.mit.edu 37 9 131553912 131553912 + Frame_Shift_Del DEL G G - TCGA-EJ-5501-01A-01D-1576-08 TCGA-EJ-5501-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab0baa4-2ef4-46d7-a5c1-33592870967f d259fcfd-635d-4ba9-9b74-ba6a211a00c5 g.chr9:131553912delG ENST00000372648.5 + 5 390 c.240delG c.(238-240)cagfs p.Q80fs TBC1D13_ENST00000539497.1_Intron|TBC1D13_ENST00000223865.8_Frame_Shift_Del_p.Q80fs|TBC1D13_ENST00000466056.1_3'UTR NM_018201.3 NP_060671.3 Q9NVG8 TBC13_HUMAN TBC1 domain family, member 13 80 Rab-GAP TBC. intracellular Rab GTPase activator activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 6 TGATCATCCAGCCTGGCATTG 0.552 14 67 --- --- --- --- TBX3 6926 broad.mit.edu 37 12 115114119 115114120 + Splice_Site DEL TT TT - TCGA-EJ-5501-01A-01D-1576-08 TCGA-EJ-5501-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab0baa4-2ef4-46d7-a5c1-33592870967f d259fcfd-635d-4ba9-9b74-ba6a211a00c5 g.chr12:115114119_115114120delTT ENST00000349155.2 - 5 2000_2001 c.1037_1038delAA c.(1036-1038)aaa>a p.K346fs TBX3_ENST00000257566.3_Splice_Site_p.K366fs NM_005996.3 NP_005987.3 O15119 TBX3_HUMAN T-box 3 366 anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) ATGGTTTACCTTTGAGGTTCGA 0.545 14 91 --- --- --- --- VPS13C 54832 broad.mit.edu 37 15 62214732 62214734 + In_Frame_Del DEL ACA ACA - TCGA-EJ-5501-01A-01D-1576-08 TCGA-EJ-5501-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab0baa4-2ef4-46d7-a5c1-33592870967f d259fcfd-635d-4ba9-9b74-ba6a211a00c5 g.chr15:62214732_62214734delACA ENST00000261517.5 - 54 6910_6912 c.6837_6839delTGT c.(6835-6840)gttgta>gta p.2279_2280VV>V VPS13C_ENST00000249837.3_In_Frame_Del_p.2236_2237VV>V|VPS13C_ENST00000395896.4_In_Frame_Del_p.2279_2280VV>V|VPS13C_ENST00000395898.3_In_Frame_Del_p.2236_2237VV>V NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 2279 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 AATGGATTCTACAACAACACCAC 0.365 25 165 --- --- --- ---