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 MYLK 4638 broad.mit.edu 37 3 123345769 123345769 + Nonsense_Mutation SNP G G A TCGA-DJ-A3VM-01A-11D-A23M-08 TCGA-DJ-A3VM-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84aaa406-6753-4374-9b89-fd6e1fa366d5 7c207e1e-48ae-4299-af8c-1e95033b467b g.chr3:123345769G>A ENST00000360772.3 - 31 5359 c.4981C>T c.(4981-4983)Cag>Tag p.Q1661* MYLK_ENST00000346322.5_Nonsense_Mutation_p.Q1643*|MYLK_ENST00000359169.1_Nonsense_Mutation_p.Q1661*|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000360304.3_Nonsense_Mutation_p.Q1712*|MYLK_ENST00000354792.5_Nonsense_Mutation_p.Q512*|MYLK-AS1_ENST00000470449.1_RNA|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000475616.1_Nonsense_Mutation_p.Q1712* Q15746 MYLK_HUMAN myosin light chain kinase 1712 Protein kinase. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TGAAGGCACTGCGTGCAGTCC 0.502000 6 72 0 0 1 0 0 SNRK 54861 broad.mit.edu 37 3 43345283 43345283 + Splice_Site SNP A A T TCGA-DJ-A3VM-01A-11D-A23M-08 TCGA-DJ-A3VM-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84aaa406-6753-4374-9b89-fd6e1fa366d5 7c207e1e-48ae-4299-af8c-1e95033b467b g.chr3:43345283A>T ENST00000296088.7 + 3 892 c.589_splice c.e3+1 p.V196_splice SNRK_ENST00000462810.1_3'UTR|SNRK_ENST00000454177.1_Splice_Site_p.V196_splice|SNRK_ENST00000429705.2_Splice_Site_p.V196_splice|SNRK_ENST00000437827.1_Intron NM_017719.4 NP_060189.3 Q9NRH2 SNRK_HUMAN SNF related kinase 196 Protein kinase. V -> A (in Ref. 7; CAH18415). myeloid cell differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792) CACCTGCAGTAGGTAGGTAAC 0.423000 51 91 0 0 1 0 0 CNOT10 25904 broad.mit.edu 37 3 32778913 32778913 + Missense_Mutation SNP A A G TCGA-DJ-A3VM-01A-11D-A23M-08 TCGA-DJ-A3VM-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84aaa406-6753-4374-9b89-fd6e1fa366d5 7c207e1e-48ae-4299-af8c-1e95033b467b g.chr3:32778913A>G ENST00000328834.5 + 13 1842 c.1526A>G c.(1525-1527)cAt>cGt p.H509R CNOT10_ENST00000454516.2_Missense_Mutation_p.H569R|CNOT10_ENST00000331889.6_Intron|CNOT10-AS1_ENST00000475395.2_RNA|CNOT10_ENST00000538368.1_Missense_Mutation_p.H281R NM_015442.2 NP_056257.1 Q9H9A5 CNOTA_HUMAN CCR4-NOT transcription complex, subunit 10 509 H -> Y (in Ref. 1; BAB14108). nuclear-transcribed mRNA poly(A) tail shortening cytosol protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3) 23 AGTAAAAGCCATGATGGAGAT 0.323000 36 75 0 0 1 0 0 CTC1 80169 broad.mit.edu 37 17 8141916 8141916 + Nonsense_Mutation SNP G G A TCGA-DJ-A3VM-01A-11D-A23M-08 TCGA-DJ-A3VM-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84aaa406-6753-4374-9b89-fd6e1fa366d5 7c207e1e-48ae-4299-af8c-1e95033b467b g.chr17:8141916G>A ENST00000315684.8 - 3 236 c.229C>T c.(229-231)Cag>Tag p.Q77* CTC1_ENST00000581671.1_5'UTR NM_025099.5 NP_079375.3 Q2NKJ3 CTC1_HUMAN CTS telomere maintenance complex component 1 77 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 GGGAGACGCTGGTGAGTCTTG 0.592000 70 84 0 0 1 0 0 MOGAT3 346606 broad.mit.edu 37 7 100841499 100841499 + Missense_Mutation SNP C C G TCGA-DJ-A3VM-01A-11D-A23M-08 TCGA-DJ-A3VM-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84aaa406-6753-4374-9b89-fd6e1fa366d5 7c207e1e-48ae-4299-af8c-1e95033b467b g.chr7:100841499C>G ENST00000223114.4 - 5 807 c.641G>C c.(640-642)gGc>gCc p.G214A MOGAT3_ENST00000440203.2_Missense_Mutation_p.G214A|MOGAT3_ENST00000379423.3_Missense_Mutation_p.G214A NM_178176.2 NP_835470.1 Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 214 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3) 22 Lung NSC(181;0.168)|all_lung(186;0.215) GCGCACGAAGCCTTTGCGCTT 0.647000 35 47 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40716160 40716160 + Missense_Mutation SNP C C G TCGA-DJ-A3VM-01A-11D-A23M-08 TCGA-DJ-A3VM-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84aaa406-6753-4374-9b89-fd6e1fa366d5 7c207e1e-48ae-4299-af8c-1e95033b467b g.chr12:40716160C>G ENST00000298910.7 + 37 5415 c.5357C>G c.(5356-5358)tCt>tGt p.S1786C NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1786 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding p.S1749F(1)|p.S1786F(1) NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) CACATTGATTCTCTCATGGAA 0.398000 149 253 0 0 1 0 0 EIF3G 8666 broad.mit.edu 37 19 10225802 10225802 + Silent SNP C C T TCGA-DJ-A3VM-01A-11D-A23M-08 TCGA-DJ-A3VM-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84aaa406-6753-4374-9b89-fd6e1fa366d5 7c207e1e-48ae-4299-af8c-1e95033b467b g.chr19:10225802C>T ENST00000253108.4 - 11 993 c.951G>A c.(949-951)ccG>ccA p.P317P P2RY11_ENST00000321826.4_3'UTR NM_003755.3 NP_003746.2 O75821 EIF3G_HUMAN eukaryotic translation initiation factor 3, subunit G 317 RRM. cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm nucleotide binding|protein binding|translation initiation factor activity central_nervous_system(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05) AGTTGGTGGACGGCCTGGGGT 0.637000 13 17 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133883768 133883768 + Silent SNP G G T TCGA-DJ-A3VM-01A-11D-A23M-08 TCGA-DJ-A3VM-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84aaa406-6753-4374-9b89-fd6e1fa366d5 7c207e1e-48ae-4299-af8c-1e95033b467b g.chr8:133883768G>T ENST00000220616.4 + 4 490 c.450G>T c.(448-450)ggG>ggT p.G150G TG_ENST00000377869.1_Silent_p.G150G NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 150 Thyroglobulin type-1 2. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGGTGTATGGGACCCGCCAGC 0.607000 17 37 1.45105e-14 1.53167e-14 1 1 0 FRG1B 0 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-DJ-A3VM-01A-11D-A23M-08 TCGA-DJ-A3VM-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84aaa406-6753-4374-9b89-fd6e1fa366d5 7c207e1e-48ae-4299-af8c-1e95033b467b g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 12 150 0 0 1 0 0 NUP133 55746 broad.mit.edu 37 1 229606430 229606430 + Missense_Mutation SNP G G A TCGA-DJ-A3VM-01A-11D-A23M-08 TCGA-DJ-A3VM-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84aaa406-6753-4374-9b89-fd6e1fa366d5 7c207e1e-48ae-4299-af8c-1e95033b467b g.chr1:229606430G>A ENST00000261396.3 - 15 2064 c.1973C>T c.(1972-1974)tCc>tTc p.S658F NUP133_ENST00000537506.1_Missense_Mutation_p.S642F|NUP133_ENST00000366679.1_Missense_Mutation_p.S658F NM_018230.2 NP_060700.2 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 658 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4) 56 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) AGAAAGCCGGGAGTGGTGGTT 0.502000 17 129 0 0 1 0 0 TBRG4 9238 broad.mit.edu 37 7 45148648 45148648 + Silent SNP T T C TCGA-DJ-A3VM-01A-11D-A23M-08 TCGA-DJ-A3VM-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84aaa406-6753-4374-9b89-fd6e1fa366d5 7c207e1e-48ae-4299-af8c-1e95033b467b g.chr7:45148648T>C ENST00000258770.3 - 2 310 c.189A>G c.(187-189)gcA>gcG p.A63A TBRG4_ENST00000471142.1_5'UTR|TBRG4_ENST00000395655.4_Silent_p.A63A|TBRG4_ENST00000494076.1_Silent_p.A63A|TBRG4_ENST00000361278.3_Silent_p.A63A NM_004749.3 NP_004740.2 Q969Z0 TBRG4_HUMAN transforming growth factor beta regulator 4 63 apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation mitochondrion ATP binding|protein binding|protein kinase activity cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2) 17 AGGGAGTAGATGCTCGTTCCT 0.562000 5 136 0 0 1 0 0 SH2D3A 10045 broad.mit.edu 37 19 6754188 6754188 + Missense_Mutation SNP T T C rs2305807 by1000genomes TCGA-DJ-A3VM-01A-11D-A23M-08 TCGA-DJ-A3VM-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84aaa406-6753-4374-9b89-fd6e1fa366d5 7c207e1e-48ae-4299-af8c-1e95033b467b g.chr19:6754188T>C ENST00000437152.3 - 6 1112 c.980A>G c.(979-981)gAt>gGt p.D327G SH2D3A_ENST00000245908.6_Intron Q9BRG2 SH23A_HUMAN SH2 domain containing 3A 425 JNK cascade|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1) 24 GGAGAAGAGATCTGAGCACGC 0.657000 3 23 0 0 1 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156631708 156631708 + Missense_Mutation SNP G G C TCGA-DJ-A3VM-01A-11D-A23M-08 TCGA-DJ-A3VM-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84aaa406-6753-4374-9b89-fd6e1fa366d5 7c207e1e-48ae-4299-af8c-1e95033b467b g.chr4:156631708G>C ENST00000296518.7 + 6 600 c.391G>C c.(391-393)Gtt>Ctt p.V131L GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.V131L|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.V131L|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.V131L|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.V131L|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.V131L|GUCY1A3_ENST00000393832.3_5'UTR Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 131 VIKESLGEEVFKICYEEDENILGVVGGTLKDFLNSFSTLLK QSSHCQEAGKRGR -> LSKNLLVKRFLKYVTRKMKTSLGW LEAPLKIFKQLQYPSETEQPLPRSRKKGQ (in Ref. 1). blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) TCCAGTGGAGGTTATCAAAGA 0.373000 29 51 0 0 1 0 0 HBBP1 0 broad.mit.edu 37 11 5264339 5264339 + RNA SNP G G T TCGA-DJ-A3VM-01A-11D-A23M-08 TCGA-DJ-A3VM-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84aaa406-6753-4374-9b89-fd6e1fa366d5 7c207e1e-48ae-4299-af8c-1e95033b467b g.chr11:5264339G>T ENST00000454892.1 - 0 157 NR_001589.1 TACTCACCAGGAAGTTCTCAG 0.463000 11 12 3.86212e-05 3.9665e-05 1 1 0 POLR3B 55703 broad.mit.edu 37 12 106820987 106820987 + Missense_Mutation SNP C C T TCGA-DJ-A3VM-01A-11D-A23M-08 TCGA-DJ-A3VM-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84aaa406-6753-4374-9b89-fd6e1fa366d5 7c207e1e-48ae-4299-af8c-1e95033b467b g.chr12:106820987C>T ENST00000228347.4 + 13 1336 c.1114C>T c.(1114-1116)Ctt>Ttt p.L372F POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F|POLR3B_ENST00000549195.1_3'UTR NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 372 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding p.L372F(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTATCTCTTCTTTTTGAAGA 0.274000 7 32 0 0 1 0 0 KCNIP4 80333 broad.mit.edu 37 4 20751329 20751329 + Missense_Mutation SNP A A C TCGA-DJ-A3VM-01A-11D-A23M-08 TCGA-DJ-A3VM-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84aaa406-6753-4374-9b89-fd6e1fa366d5 7c207e1e-48ae-4299-af8c-1e95033b467b g.chr4:20751329A>C ENST00000382148.3 - 4 646 c.310T>G c.(310-312)Ttc>Gtc p.F104V KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000359001.5_Missense_Mutation_p.F67V|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000509207.1_Missense_Mutation_p.F67V|KCNIP4_ENST00000447367.2_Missense_Mutation_p.F95V|KCNIP4_ENST00000382150.4_Missense_Mutation_p.F108V|KCNIP4_ENST00000382152.2_Missense_Mutation_p.F129V NM_001035003.1 NP_001030175.1 Q6PIL6 KCIP4_HUMAN Kv channel interacting protein 4 129 EF-hand 1; degenerate. plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(46;0.134) AATGCATTGAACAGAAAATGT 0.358000 7 65 0 0 1 0 0 NTNG2 84628 broad.mit.edu 37 9 135073480 135073480 + Missense_Mutation SNP G G T TCGA-DJ-A3VM-01A-11D-A23M-08 TCGA-DJ-A3VM-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84aaa406-6753-4374-9b89-fd6e1fa366d5 7c207e1e-48ae-4299-af8c-1e95033b467b g.chr9:135073480G>T ENST00000393229.3 + 3 1117 c.341G>T c.(340-342)cGc>cTc p.R114L NTNG2_ENST00000360670.3_Missense_Mutation_p.R114L|NTNG2_ENST00000393228.4_Missense_Mutation_p.R114L|NTNG2_ENST00000372179.3_Missense_Mutation_p.R114L NM_032536.2 NP_115925.2 Q96CW9 NTNG2_HUMAN netrin G2 114 Laminin N-terminal. axonogenesis anchored to plasma membrane central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 29 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) ACCTGGAGCCGCTACCCCAGC 0.652000 29 52 3.11337e-16 3.38024e-16 1 1 0 HERC1 8925 broad.mit.edu 37 15 63937682 63937682 + Splice_Site SNP G G A TCGA-DJ-A3VM-01A-11D-A23M-08 TCGA-DJ-A3VM-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84aaa406-6753-4374-9b89-fd6e1fa366d5 7c207e1e-48ae-4299-af8c-1e95033b467b g.chr15:63937682G>A ENST00000443617.2 - 56 11165 c.11078_splice c.e56+1 p.T3693_splice NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 3693 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 GACAACATACGTAGCCATCAG 0.403000 3 42 0 0 1 0 0 MMP24 10893 broad.mit.edu 37 20 33834779 33834779 + Missense_Mutation SNP A A C TCGA-DJ-A3VM-01A-11D-A23M-08 TCGA-DJ-A3VM-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84aaa406-6753-4374-9b89-fd6e1fa366d5 7c207e1e-48ae-4299-af8c-1e95033b467b g.chr20:33834779A>C ENST00000246186.6 + 2 468 c.383A>C c.(382-384)cAg>cCg p.Q128P EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000566203.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA NM_006690.3 NP_006681.1 Q9Y5R2 MMP24_HUMAN matrix metallopeptidase 24 (membrane-inserted) 128 proteolysis integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5) 14 BRCA - Breast invasive adenocarcinoma(18;0.00252) GTGTTGGATCAGACAACGATC 0.522000 7 107 0 0 1 0 0 PSPH 5723 broad.mit.edu 37 7 56079524 56079524 + Silent SNP T T C TCGA-DJ-A3VM-01A-11D-A23M-08 TCGA-DJ-A3VM-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84aaa406-6753-4374-9b89-fd6e1fa366d5 7c207e1e-48ae-4299-af8c-1e95033b467b g.chr7:56079524T>C ENST00000395471.3 - 8 1414 c.609A>G c.(607-609)caA>caG p.Q203Q PSPH_ENST00000275605.3_Silent_p.Q203Q|PSPH_ENST00000459834.1_5'UTR P78330 SERB_HUMAN phosphoserine phosphatase 203 L-serine biosynthetic process cytoplasm calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1) 11 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CCTTGACTTGTTGCCTGATCA 0.348000 11 170 0 0 1 0 0 NUP155 9631 broad.mit.edu 37 5 37299605 37299605 + Silent SNP G G A rs149980171 by1000genomes TCGA-DJ-A3VM-01A-11D-A23M-08 TCGA-DJ-A3VM-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84aaa406-6753-4374-9b89-fd6e1fa366d5 7c207e1e-48ae-4299-af8c-1e95033b467b g.chr5:37299605G>A ENST00000231498.3 - 31 3830 c.3627C>T c.(3625-3627)gcC>gcT p.A1209A NUP155_ENST00000381843.2_Silent_p.A1150A|NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000513532.1_Silent_p.A1145A NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 1209 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CTGAATAACCGGCACAATGAA 0.378000 5 120 0 0 1 0 0 FOXO3 2309 broad.mit.edu 37 6 108984910 108984910 + Missense_Mutation SNP C C T TCGA-DJ-A3VM-01A-11D-A23M-08 TCGA-DJ-A3VM-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84aaa406-6753-4374-9b89-fd6e1fa366d5 7c207e1e-48ae-4299-af8c-1e95033b467b g.chr6:108984910C>T ENST00000406360.1 + 2 1217 c.874C>T c.(874-876)Cct>Tct p.P292S FOXO3_ENST00000343882.6_Missense_Mutation_p.P292S|FOXO3_ENST00000540898.1_Missense_Mutation_p.P72S NM_001455.3 NP_001446.1 O43524 FOXO3_HUMAN forkhead box O3 292 PGSPTSRSSDELDAWTDFRSRTNSNASTVSGRLSPIMAS -> AWQPHVNAAVMSWMRGRTSVHAPILTPAQSVAACRPSW QV (in Ref. 5; CAA04860). antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152) Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718) CTCCAAGTGGCCTGGCAGCCC 0.622000 3 25 0 0 1 0 0 CPA2 1358 broad.mit.edu 37 7 129906739 129906739 + Silent SNP C C T TCGA-DJ-A3VM-01A-11D-A23M-08 TCGA-DJ-A3VM-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84aaa406-6753-4374-9b89-fd6e1fa366d5 7c207e1e-48ae-4299-af8c-1e95033b467b g.chr7:129906739C>T ENST00000222481.4 + 1 73 c.18C>T c.(16-18)atC>atT p.I6I NM_001869.2 NP_001860.2 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) 6 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Melanoma(18;0.0435) TGAGGTTGATCCTGTTTTTTG 0.443000 76 122 0 0 1 0 0 XPA 7507 broad.mit.edu 37 9 100455962 100455964 + In_Frame_Del DEL TTC TTC - rs3176652 TCGA-DJ-A3VM-01A-11D-A23M-08 TCGA-DJ-A3VM-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84aaa406-6753-4374-9b89-fd6e1fa366d5 7c207e1e-48ae-4299-af8c-1e95033b467b g.chr9:100455962_100455964delTTC ENST00000375128.4 - 2 314_316 c.250_252delGAA c.(250-252)del p.E84del NM_000380.3 NP_000371.1 P23025 XPA_HUMAN xeroderma pigmentosum, complementation group A 84 Interaction with CEP164 and required for UV resistance.|Poly-Glu. nucleotide-excision repair, DNA damage removal nucleoplasm damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity p.E84*(1) breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1) 11 Acute lymphoblastic leukemia(62;0.158) CAATTTTCTGTTCTTCTTCTTCT 0.340 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 7 123 --- --- --- --- AC126365.1 0 broad.mit.edu 37 17 20623668 20623668 + RNA DEL T T - rs151078009 TCGA-DJ-A3VM-01A-11D-A23M-08 TCGA-DJ-A3VM-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84aaa406-6753-4374-9b89-fd6e1fa366d5 7c207e1e-48ae-4299-af8c-1e95033b467b g.chr17:20623668delT ENST00000578210.1 + 0 150 NR_073509.1 gcccggctaattttttttttt 0.572 4 5 --- --- --- --- ATP9B 374868 broad.mit.edu 37 18 76936903 76936904 + Frame_Shift_Del DEL TG TG - TCGA-DJ-A3VM-01A-11D-A23M-08 TCGA-DJ-A3VM-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84aaa406-6753-4374-9b89-fd6e1fa366d5 7c207e1e-48ae-4299-af8c-1e95033b467b g.chr18:76936903_76936904delTG ENST00000426216.2 + 8 886_887 c.869_870delTG c.(868-870)cfs p.L290fs ATP9B_ENST00000307671.7_Frame_Shift_Del_p.L290fs NM_198531.3 NP_940933.3 O43861 ATP9B_HUMAN ATPase, class II, type 9B 290 ATP biosynthetic process integral to membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1) 38 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) CTGCCGGCTCTGGGGGTGAGCA 0.441 51 102 --- --- --- --- CBR3 874 broad.mit.edu 37 21 37510175 37510175 + Frame_Shift_Del DEL T T - TCGA-DJ-A3VM-01A-11D-A23M-08 TCGA-DJ-A3VM-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84aaa406-6753-4374-9b89-fd6e1fa366d5 7c207e1e-48ae-4299-af8c-1e95033b467b g.chr21:37510175delT ENST00000290354.5 + 2 623 c.342delT c.(340-342)aafs p.N114fs CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000413862.1_RNA NM_001236.3 NP_001227.1 O75828 CBR3_HUMAN carbonyl reductase 3 114 cytosol|nucleus carbonyl reductase (NADPH) activity|NADPH binding kidney(1)|large_intestine(1)|lung(1) 3 TGAAGACAAATTTTTTTGCCA 0.408 10 252 --- --- --- ---