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 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_ENST00000380746.4_Silent_p.V374V|DNMT3A_ENST00000402667.1_Silent_p.V340V|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Silent_p.V563V 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 0.627000 """Mis, F, N, S""" AML 8 27 0 0 1 0 0 NBPF3 84224 broad.mit.edu 37 1 21808232 21808232 + 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.chr1:21808232G>A ENST00000318220.6 + 16 2456 c.1408G>A c.(1408-1410)Gaa>Aaa p.E470K NBPF3_ENST00000454000.2_Missense_Mutation_p.E456K|NBPF3_ENST00000342104.5_Missense_Mutation_p.E514K|NBPF3_ENST00000318249.5_Missense_Mutation_p.E526K Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 526 NBPF 4.|Poly-Glu. cytoplasm p.E526K(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) ATTGGAGGAAGAACACGTTGG 0.458000 16 39 0 0 1 0 0 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 0.677000 12 115 0 0 1 0 0 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.656_splice c.e8+1 p.R219_splice CD8A_ENST00000409781.1_Splice_Site_p.R182_splice|CD8A_ENST00000538832.1_Splice_Site_p.R260_splice|CD8A_ENST00000283635.3_Splice_Site_p.R219_splice|CD8A_ENST00000456996.2_Splice_Site_p.R182_splice|CD8A_ENST00000352580.3_Splice_Site_p.R182_splice 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 0.507000 5 21 0 0 1 0 0 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 0.398000 29 107 0 0 1 0 0 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_ENST00000548580.1_Intron|MYL6_ENST00000550697.1_Intron|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000549566.1_Silent_p.Q65Q|MYL6_ENST00000548400.1_Intron|MYL6_ENST00000551589.1_Intron|MYL6_ENST00000548293.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000348108.4_Intron|RP11-603J24.18_ENST00000548571.1_RNA 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 0.562000 31 142 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes 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.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 4 106 0 0 1 0 0 MSRA 4482 broad.mit.edu 37 8 10285774 10285774 + 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.chr8:10285774C>T ENST00000528246.1 + 7 1085 c.462C>T c.(460-462)tgC>tgT p.C154C MSRA_ENST00000382490.5_Silent_p.C177C|MSRA_ENST00000317173.4_Silent_p.C220C|MSRA_ENST00000441698.2_Silent_p.C180C NM_001199729.1 NP_001186658.1 Q9UJ68 MSRA_HUMAN methionine sulfoxide reductase A 220 methionine metabolic process|protein modification process|response to oxidative stress mitochondrion|nucleus peptide-methionine-(S)-S-oxide reductase activity central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4) 8 Myeloproliferative disorder(644;0.178) L-Methionine(DB00134) ATGGCTACTGCGGCCTTGGGG 0.532000 3 57 0 0 1 0 0 TMC3 342125 broad.mit.edu 37 15 81636301 81636301 + 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.chr15:81636301C>T ENST00000558726.1 - 14 1742 c.1607G>A c.(1606-1608)cGg>cAg p.R536Q RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.R535Q Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 535 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 ACTTAAGTACCGCACGAAAAG 0.468000 7 48 0 0 1 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457701 15457701 + 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.chr16:15457701G>A ENST00000360151.4 - 8 867 c.868C>T c.(868-870)Ctc>Ttc p.L290F NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 p.L290F(2) AGGGGAGTGAGCAGACACTCG 0.562000 3 69 0 0 1 0 0 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 0.403000 4 100 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121746685 121746685 + 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.chr2:121746685C>T ENST00000452319.1 + 14 3255 c.3195C>T c.(3193-3195)gaC>gaT p.D1065D GLI2_ENST00000361492.4_Silent_p.D1065D|GLI2_ENST00000314490.11_Silent_p.D737D P10070 GLI2_HUMAN GLI family zinc finger 2 1065 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.D1065D(1) NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) TTCCAGACGACGTGGTGCAGT 0.687000 7 93 0 0 1 0 0 MT-RNR2 0 broad.mit.edu 37 MT 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 0.448000 9 26 0 0 1 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72500856 72500856 + 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.chr10:72500856G>A ENST00000373208.1 + 12 1871 c.1871G>A c.(1870-1872)cGc>cAc p.R624H ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R621H NM_139155.2 NP_631894.2 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 14 621 Cys-rich. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.R624H(2) NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 TGTGCCAAGCGCAACTCCTAC 0.627000 9 74 0 0 1 0 0 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 0.617000 5 26 0 0 1 0 0 MT-ND5 4540 broad.mit.edu 37 MT 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 0.418000 6 20 0 0 1 0 0 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 0.637000 25 112 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133790980 133790980 + Silent SNP G G A rs114264751 by1000genomes 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.chr11:133790980G>A ENST00000321016.8 - 18 2870 c.2640C>T c.(2638-2640)gcC>gcT p.A880A IGSF9B_ENST00000533871.2_Silent_p.A880A Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 880 integral to membrane|plasma membrane p.A336A(1)|p.A880A(1) breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CCGTCTCCTCGGCGAAGGGGA 0.657000 26 100 0 0 1 0 0 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 0.662000 4 39 0 0 1 0 0 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 0.532000 51 176 0 0 1 0 0 SEC61A2 55176 broad.mit.edu 37 10 12200105 12200105 + 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.chr10:12200105G>A ENST00000379033.3 + 8 1056 c.e8+1 SEC61A2_ENST00000304267.8_Splice_Site|SEC61A2_ENST00000495368.1_Splice_Site|SEC61A2_ENST00000379020.4_Intron|SEC61A2_ENST00000298428.9_Splice_Site NM_001142628.1 NP_001136100.1 Q9H9S3 S61A2_HUMAN Sec61 alpha 2 subunit (S. cerevisiae) endoplasmic reticulum membrane|integral to membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity p.?(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Renal(717;0.228) ACAGTGGGCCGTGAGTATTAT 0.368000 10 45 0 0 1 0 0 HS6ST1 9394 broad.mit.edu 37 2 129026419 129026419 + Nonsense_Mutation SNP G G A rs139541363 by1000genomes 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.chr2:129026419G>A ENST00000259241.6 - 2 566 c.553C>T c.(553-555)Cga>Tga p.R185* NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 185 3'-phosphate binding (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity p.R185*(2) endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) ACGGGGTCTCGTAGCAGGGTG 0.627000 5 79 0 0 1 0 0 IRX2 153572 broad.mit.edu 37 5 2749500 2749500 + 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.chr5:2749500G>A ENST00000382611.6 - 2 899 c.651C>T c.(649-651)gaC>gaT p.D217D IRX2_ENST00000302057.5_Silent_p.D217D|IRX2_ENST00000502957.1_5'UTR NM_001134222.1 NP_001127694.1 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 217 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.D217D(2) breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2) 26 GBM - Glioblastoma multiforme(108;0.204) GCTCACCTTCGTCCTCTGCCG 0.682000 5 61 0 0 1 0 0 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 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 0.468000 21 92 0 0 1 0 0 FAM153A 285596 broad.mit.edu 37 5 177163583 177163583 + Missense_Mutation SNP C C T rs143733594 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.chr5:177163583C>T ENST00000440605.3 - 11 713 c.430G>A c.(430-432)Gaa>Aaa p.E144K FAM153A_ENST00000393518.3_Intron|FAM153A_ENST00000513554.1_Intron|FAM153A_ENST00000510276.1_Missense_Mutation_p.E144K NM_173663.3 NP_775934.3 Q9UHL3 F153A_HUMAN family with sequence similarity 153, member A 144 p.E144K(3) kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1) 11 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TACGTACATTCGGCCAGTGTG 0.458000 17 64 0 0 1 0 0 LINC00957 0 broad.mit.edu 37 7 44080405 44080405 + RNA SNP A A 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.chr7:44080405A>G ENST00000441052.1 + 0 1090 AGAGGAGGTCACGGTCAGCGC 0.672000 3 13 0 0 1 0 0 CCDC127 133957 broad.mit.edu 37 5 205601 205601 + 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.chr5:205601G>A ENST00000296824.3 - 3 726 c.594C>T c.(592-594)ccC>ccT p.P198P NM_145265.2 NP_660308.1 Q96BQ5 CC127_HUMAN coiled-coil domain containing 127 198 p.P198P(1) breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 12 all cancers(22;0.0236)|Lung(60;0.113) CAGCGGCGACGGGGTCGACGG 0.522000 16 82 0 0 1 0 0 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 0.498000 30 190 0 0 1 0 0 MCC 4163 broad.mit.edu 37 5 112478967 112478967 + 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.chr5:112478967C>T ENST00000302475.4 - 3 825 c.262G>A c.(262-264)Gtc>Atc p.V88I MCC_ENST00000408903.3_Missense_Mutation_p.V278I|MCC_ENST00000515367.2_Missense_Mutation_p.V25I|MCC_ENST00000514701.3_5'UTR NM_002387.2 NP_002378.1 P23508 CRCM_HUMAN mutated in colorectal cancers 88 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity p.V88I(2)|p.V278I(2) endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) TCCGCAATGACGCTGTGGAGC 0.547000 10 34 0 0 1 0 0 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 PICK1_ENST00000356976.3_Missense_Mutation_p.H184Y|RP5-1039K5.13_ENST00000445483.1_RNA 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 0.617000 17 106 0 0 1 0 0 EBLN2 55096 broad.mit.edu 37 3 73111481 73111482 + Frame_Shift_Ins INS - - A rs147131789 by1000genomes 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.chr3:73111481_73111482insA ENST00000533473.1 + 1 672_673 c.249_250insA c.(247-252)aagacafs p.T84fs PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000394284.3_Intron|PPP4R2_ENST00000295862.9_Intron NM_018029.3 NP_060499.3 Q6P2I7 EBLN2_HUMAN endogenous Bornavirus-like nucleoprotein 2 84 protein binding endometrium(1)|large_intestine(3)|lung(1)|prostate(1) 6 CTGGGAAAAACAGACAGTATCC 0.480 8 13 --- --- --- --- LARP1 23367 broad.mit.edu 37 5 154173389 154173390 + Frame_Shift_Ins INS - - 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.chr5:154173389_154173390insC ENST00000336314.4 + 6 691_692 c.667_668insC c.(667-669)cccfs p.P223fs NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 300 protein binding|RNA binding p.T303fs*19(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CGTGCCCGTGGCCCCCCCCACC 0.644 7 343 --- --- --- --- 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)cafs p.Q80fs TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000223865.8_Frame_Shift_Del_p.Q80fs|TBC1D13_ENST00000539497.1_Intron 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.1039_splice c.e5+1 p.K346_splice TBX3_ENST00000257566.3_Splice_Site_p.K366_splice 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 --- --- --- --- CTD-2509G16.5 0 broad.mit.edu 37 14 65734530 65734531 + RNA DEL GT GT - 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.chr14:65734530_65734531delGT ENST00000553754.1 - 0 368 GTGTTGGCGGGTGTGTGTGTGT 0.495 2 4 --- --- --- --- 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)gta>gt p.VV2279del VPS13C_ENST00000395898.3_In_Frame_Del_p.VV2236del|VPS13C_ENST00000249837.3_In_Frame_Del_p.VV2236del|VPS13C_ENST00000395896.4_In_Frame_Del_p.VV2279del 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 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11080670 11080673 + RNA DEL AGAG AGAG - rs3954670 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.chr21:11080670_11080673delAGAG ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GTAAAGACACAGAGAGAGAGACTT 0.485 3 5 --- --- --- ---