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 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 uc003iov.3 + 6 927 c.391G>C c.(391-393)Gtt>Ctt p.V131L GUCY1A3_uc003iou.2_Missense_Mutation_p.V131L|GUCY1A3_uc010iqc.2_Missense_Mutation_p.V131L|GUCY1A3_uc010iqd.3_Missense_Mutation_p.V130L|GUCY1A3_uc003iow.3_Missense_Mutation_p.V131L|GUCY1A3_uc003iox.3_Missense_Mutation_p.V131L|GUCY1A3_uc010iqe.3_Intron|GUCY1A3_uc003ioy.3_Missense_Mutation_p.V131L|GUCY1A3_uc003ioz.3_5'UTR|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.V131L NM_000856 NP_001124157 Q02108 GCYA3_HUMAN Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA. 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 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 uc003ego.3 - 30 5416 c.5134C>T c.(5134-5136)Cag>Tag p.Q1712* MYLK-AS1_uc003egk.3_Intron|MYLK_uc010hrr.3_Nonsense_Mutation_p.Q147*|MYLK_uc011bjv.2_Nonsense_Mutation_p.Q512*|MYLK_uc011bjw.2_Nonsense_Mutation_p.Q1712*|MYLK_uc003egp.3_Nonsense_Mutation_p.Q1643*|MYLK_uc003egq.3_Nonsense_Mutation_p.Q1661*|MYLK_uc003egr.3_Nonsense_Mutation_p.Q1592*|MYLK_uc003egs.3_Nonsense_Mutation_p.Q1536* NM_053025 NP_444253 Q15746 MYLK_HUMAN Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA. 1712 Calmodulin-binding.|Protein kinase. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol ATP binding|actin 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 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 uc004cbh.2 + 2 1117 c.341G>T c.(340-342)cGc>cTc p.R114L NM_032536 NP_115925 Q96CW9 NTNG2_HUMAN Homo sapiens netrin G2 (NTNG2), mRNA. 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 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 uc003ytw.3 + 3 491 c.450G>T c.(448-450)ggG>ggT p.G150G NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 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 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 uc002xbu.2 + 1 386 c.383A>C c.(382-384)cAg>cCg p.Q128P EDEM2_uc010zuv.1_Intron NM_006690 NP_006681 Q9Y5R2 MMP24_HUMAN Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA. 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 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 uc003uyc.3 - 4 808 c.641G>C c.(640-642)gGc>gCc p.G214A MOGAT3_uc010lhr.3_Missense_Mutation_p.G214A NM_178176 NP_835470 Q86VF5 MOGT3_HUMAN Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA. 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 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 uc003trj.3 - 5 1011 c.696A>G c.(694-696)caA>caG p.Q232Q PSPH_uc003trh.3_Silent_p.Q203Q|PSPH_uc003tri.3_Silent_p.Q203Q NM_004577 NP_004568 P78330 SERB_HUMAN Homo sapiens phosphoserine phosphatase (PSPH), mRNA. 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 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 uc001htn.3 - 14 2065 c.1973C>T c.(1972-1974)tCc>tTc p.S658F NM_018230 NP_060700 Q8WUM0 NU133_HUMAN Homo sapiens nucleoporin 133kDa (NUP133), mRNA. 658 carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction Nup107-160 complex|condensed chromosome kinetochore|cytosol 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 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 uc003cms.4 + 3 921 c.589_splice c.e3+1 p.D197_splice SNRK_uc003cmt.4_Splice_Site_p.D197_splice|SNRK_uc010hik.3_Splice_Site_p.D197_splice|SNRK_uc011azr.2_Intron|SNRK_uc003cmu.3_Splice_Site_p.D197_splice NM_017719 NP_060189 Q9NRH2 SNRK_HUMAN Homo sapiens SNF related kinase (SNRK), transcript variant 1, mRNA. 197 Protein kinase. 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 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 uc001rmg.4 + 36 5478 c.5357C>G c.(5356-5358)tCt>tGt p.S1786C LRRK2_uc009zjw.3_Missense_Mutation_p.S624C|LRRK2_uc001rmi.3_Missense_Mutation_p.S619C NM_198578 NP_940980 Q5S007 LRRK2_HUMAN Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA. 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.Q1786K(1)|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 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 uc011axj.1 + 12 1783 c.1706A>G c.(1705-1707)cAt>cGt p.H569R CNOT10_uc011axi.1_Missense_Mutation_p.H281R|CNOT10_uc003cfc.1_Missense_Mutation_p.H509R|CNOT10_uc003cfd.1_Missense_Mutation_p.H508R|CNOT10_uc003cfe.1_Intron|CNOT10_uc010hfv.1_Intron|CNOT10_uc010hfw.1_Missense_Mutation_p.H204R NM_015442 NP_056257 Q9H9A5 CNOTA_HUMAN Homo sapiens CCR4-NOT transcription complex, subunit 10 (CNOT10), mRNA. 509 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 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 uc003vpq.3 + 0 37 c.18C>T c.(16-18)atC>atT p.I6I CPA2_uc011kpc.1_Silent_p.I6I NM_001869 NP_001860 P48052 CBPA2_HUMAN Homo sapiens carboxypeptidase A2 (pancreatic) (CPA2), mRNA. 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 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 uc021xmt.1 - 4 505 c.385T>G c.(385-387)Ttc>Gtc p.F129V KCNIP4_uc003gqe.2_Missense_Mutation_p.F112V|KCNIP4_uc003gqf.1_Missense_Mutation_p.F108V|KCNIP4_uc003gqg.1_Missense_Mutation_p.F67V|KCNIP4_uc003gqh.1_Missense_Mutation_p.F104V|KCNIP4_uc003gqi.1_Missense_Mutation_p.F67V|KCNIP4_uc021xmu.1_Missense_Mutation_p.F95V|PACRGL_uc003gpu.3_Intron|KCNIP4_uc021xms.1_Missense_Mutation_p.F92V NM_025221 NP_671711 Q6PIL6 KCIP4_HUMAN Homo sapiens Kv channel interacting protein 4 (KCNIP4), transcript variant 1, mRNA. 129 EF-hand 2. 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 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 uc002mnd.3 - 10 1015 c.951G>A c.(949-951)ccG>ccA p.P317P PPAN-P2RY11_uc002mna.3_3'UTR|PPAN-P2RY11_uc010xla.2_3'UTR|PPAN-P2RY11_uc002mnc.3_3'UTR NM_003755 NP_003746 O75821 EIF3G_HUMAN Homo sapiens eukaryotic translation initiation factor 3, subunit G (EIF3G), mRNA. 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 HBBP1 3044 broad.mit.edu 37 11 5264339 5264339 + 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.chr11:5264339G>T uc001mag.3 - 1 363 c.147C>A c.(145-147)ttC>ttA p.F49L Homo sapiens hemoglobin, beta pseudogene 1 (HBBP1), non-coding RNA. TACTCACCAGGAAGTTCTCAG 0.463000 11 12 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 uc002gkq.4 - 2 288 c.229C>T c.(229-231)Cag>Tag p.Q77* CTC1_uc010cnv.3_Non-coding_Transcript NM_025099 NP_079375 Q2NKJ3 CTC1_HUMAN Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA. 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 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 uc002lmx.3 + 7 883_884 c.869_870delTG c.(868-870)ctgfs p.L290fs ATP9B_uc002lmv.1_Intron|ATP9B_uc002lmw.1_Frame_Shift_Del_p.L290fs|ATP9B_uc002lmy.1_Intron|ATP9B_uc002lmz.1_5'UTR NM_198531 NP_940933 O43861 ATP9B_HUMAN Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA. 290 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|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 --- --- --- ---