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 SMG1 23049 broad.mit.edu 37 16 18823096 18823096 + Missense_Mutation SNP G G A TCGA-ET-A25I-01A-11D-A16O-08 TCGA-ET-A25I-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69fbd819-2f6b-4fd4-86dd-f9370cbbcd95 010ad109-f038-42e6-9efb-a24f5c53ea11 g.chr16:18823096G>A uc002dfm.3 - 61 11258 c.10895C>T c.(10894-10896)tCa>tTa p.S3632L SMG1_uc010bwb.3_Missense_Mutation_p.S3492L|SMG1_uc010bwa.3_Missense_Mutation_p.S2363L|SMG1_uc021tec.1_5'Flank NM_015092 NP_055907 Q96Q15 SMG1_HUMAN Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA. 3632 FATC. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 TTCAGCAACTGACATCCTCCT 0.443000 13 345 0 0 1 0 0 CPNE1 8904 broad.mit.edu 37 20 34218857 34218857 + Missense_Mutation SNP A A G TCGA-ET-A25I-01A-11D-A16O-08 TCGA-ET-A25I-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69fbd819-2f6b-4fd4-86dd-f9370cbbcd95 010ad109-f038-42e6-9efb-a24f5c53ea11 g.chr20:34218857A>G uc010zvj.2 - 10 1343 c.976T>C c.(976-978)Tgg>Cgg p.W326R CPNE1_uc002xde.3_Missense_Mutation_p.W297R|CPNE1_uc002xdf.3_Missense_Mutation_p.W321R|CPNE1_uc002xdi.3_Missense_Mutation_p.W321R|CPNE1_uc002xdj.3_Missense_Mutation_p.W321R|CPNE1_uc002xdl.3_Missense_Mutation_p.W321R|CPNE1_uc002xdm.3_Missense_Mutation_p.W321R|CPNE1_uc010gfk.2_3'UTR NM_003915 NP_690905 Q99829 CPNE1_HUMAN Homo sapiens copine I (CPNE1), transcript variant 3, mRNA. 321 VWFA. lipid metabolic process|vesicle-mediated transport calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.00953) CCCACACTCCACAGTGCCATC 0.572000 4 88 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G G T rs121913254 TCGA-ET-A25I-01A-11D-A16O-08 TCGA-ET-A25I-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69fbd819-2f6b-4fd4-86dd-f9370cbbcd95 010ad109-f038-42e6-9efb-a24f5c53ea11 g.chr1:115256530G>T uc009wgu.3 - 2 435 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 56 138 0 0 1 0 0 TET3 200424 broad.mit.edu 37 2 74274199 74274199 + Silent SNP T T C TCGA-ET-A25I-01A-11D-A16O-08 TCGA-ET-A25I-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69fbd819-2f6b-4fd4-86dd-f9370cbbcd95 010ad109-f038-42e6-9efb-a24f5c53ea11 g.chr2:74274199T>C uc002skb.4 + 0 750 c.750T>C c.(748-750)ccT>ccC p.P250P TET3_uc010fez.2_Silent_p.P250P NM_144993 NP_659430 O43151 TET3_HUMAN Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA. 250 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GCCCCCTTCCTGAGGCCTTGT 0.602000 3 64 0 0 1 0 0 NHS 4810 broad.mit.edu 37 X 17743871 17743871 + Missense_Mutation SNP C C T TCGA-ET-A25I-01A-11D-A16O-08 TCGA-ET-A25I-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69fbd819-2f6b-4fd4-86dd-f9370cbbcd95 010ad109-f038-42e6-9efb-a24f5c53ea11 g.chrX:17743871C>T uc011mix.2 + 6 1983 c.1645C>T c.(1645-1647)Cca>Tca p.P549S NHS_uc004cxx.3_Missense_Mutation_p.P528S|NHS_uc004cxy.3_Missense_Mutation_p.P372S|NHS_uc004cxz.3_Missense_Mutation_p.P351S|NHS_uc004cya.3_Missense_Mutation_p.P251S NM_001136024 NP_001129496 Q6T4R5 NHS_HUMAN Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA. 528 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) CAGTGAGGCTCCAAGCAGCCC 0.542000 26 60 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77768323 77768323 + Missense_Mutation SNP C C T TCGA-ET-A25I-01A-11D-A16O-08 TCGA-ET-A25I-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69fbd819-2f6b-4fd4-86dd-f9370cbbcd95 010ad109-f038-42e6-9efb-a24f5c53ea11 g.chr8:77768323C>T uc003yau.2 + 9 9553 c.9166C>T c.(9166-9168)Cgg>Tgg p.R3056W ZFHX4_uc003yaw.1_Missense_Mutation_p.R3011W NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 3011 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.D3056E(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GACCACGGTTCGGCAGCTGAT 0.507000 HNSCC(33;0.089) 6 117 0 0 1 0 0 PLXNB3 5365 broad.mit.edu 37 X 153033718 153033718 + Silent SNP G G A TCGA-ET-A25I-01A-11D-A16O-08 TCGA-ET-A25I-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69fbd819-2f6b-4fd4-86dd-f9370cbbcd95 010ad109-f038-42e6-9efb-a24f5c53ea11 g.chrX:153033718G>A uc010nuk.2 + 4 1441 c.1170G>A c.(1168-1170)tcG>tcA p.S390S PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Silent_p.S49S|PLXNB3_uc004fii.2_Silent_p.S367S|PLXNB3_uc011mzd.1_Silent_p.S6S NM_001163257 NP_001156729 Q9ULL4 PLXB3_HUMAN Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA. 367 Sema. axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) CCCCCGAGTCGTACCCCTGTG 0.687000 37 51 0 0 1 0 0 KRT35 3886 broad.mit.edu 37 17 39633418 39633418 + Missense_Mutation SNP A A G TCGA-ET-A25I-01A-11D-A16O-08 TCGA-ET-A25I-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69fbd819-2f6b-4fd4-86dd-f9370cbbcd95 010ad109-f038-42e6-9efb-a24f5c53ea11 g.chr17:39633418A>G uc002hws.3 - 6 1301 c.1258T>C c.(1258-1260)Tcc>Ccc p.S420P NM_002280 NP_002271 Q92764 KRT35_HUMAN Homo sapiens keratin 35 (KRT35), mRNA. 420 Tail. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.000286) CATGACTTGGAGGGTGAGTAG 0.542000 3 65 0 0 1 0 0 TBC1D4 9882 broad.mit.edu 37 13 75936554 75936554 + Missense_Mutation SNP T T C TCGA-ET-A25I-01A-11D-A16O-08 TCGA-ET-A25I-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69fbd819-2f6b-4fd4-86dd-f9370cbbcd95 010ad109-f038-42e6-9efb-a24f5c53ea11 g.chr13:75936554T>C uc001vjl.1 - 1 1035 c.688A>G c.(688-690)Agc>Ggc p.S230G TBC1D4_uc010aer.2_Missense_Mutation_p.S230G|TBC1D4_uc010aes.2_Missense_Mutation_p.S230G NM_014832 NP_055647 O60343 TBCD4_HUMAN Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA. 230 cytoplasm Rab GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) TCGTGCAGGCTGAACTTCTCC 0.597000 4 160 0 0 1 0 0 PWP2 5822 broad.mit.edu 37 21 45542148 45542148 + Missense_Mutation SNP T T A TCGA-ET-A25I-01A-11D-A16O-08 TCGA-ET-A25I-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69fbd819-2f6b-4fd4-86dd-f9370cbbcd95 010ad109-f038-42e6-9efb-a24f5c53ea11 g.chr21:45542148T>A uc002zeb.3 + 13 1817 c.1727T>A c.(1726-1728)gTg>gAg p.V576E NM_005049 NP_005040 Q15269 PWP2_HUMAN Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA. 576 cytoplasm|nucleolus signal transducer activity cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) GAGAACGCGGTGCAGACGGGC 0.582000 18 100 0 0 1 0 0 C14orf49 161176 broad.mit.edu 37 14 95906371 95906371 + Missense_Mutation SNP G G C TCGA-ET-A25I-01A-11D-A16O-08 TCGA-ET-A25I-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69fbd819-2f6b-4fd4-86dd-f9370cbbcd95 010ad109-f038-42e6-9efb-a24f5c53ea11 g.chr14:95906371G>C uc001yei.4 - 10 1968 c.1953C>G c.(1951-1953)tgC>tgG p.C651W C14orf49_uc010avi.3_Missense_Mutation_p.C651W NM_152592 NP_689805 Q6ZMZ3 SYNE3_HUMAN Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA. 651 cytoskeletal anchoring at nuclear membrane SUN-KASH complex|integral to membrane|nuclear outer membrane actin binding breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 50 all_cancers(154;0.0937) COAD - Colon adenocarcinoma(157;0.245) GGCTGAAGGTGCAGTGCTCCT 0.682000 40 85 0 0 1 0 0 AGAP2 116986 broad.mit.edu 37 12 58131103 58131103 + Silent SNP G G A TCGA-ET-A25I-01A-11D-A16O-08 TCGA-ET-A25I-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69fbd819-2f6b-4fd4-86dd-f9370cbbcd95 010ad109-f038-42e6-9efb-a24f5c53ea11 g.chr12:58131103G>A uc001spq.3 - 0 927 c.927C>T c.(925-927)tcC>tcT p.S309S AGAP2_uc001spp.3_Silent_p.S309S|AGAP2_uc001spr.3_Intron NM_001122772 NP_001116244 Q99490 AGAP2_HUMAN Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA. 309 Interaction with PLCG1 (By similarity). axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding p.R309C(1) breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1) 48 GGGGCTGCGCGGAAGCAGCGG 0.687000 3 58 0 0 1 0 0 SCMH1 22955 broad.mit.edu 37 1 41582675 41582675 + Silent SNP C C T TCGA-ET-A25I-01A-11D-A16O-08 TCGA-ET-A25I-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69fbd819-2f6b-4fd4-86dd-f9370cbbcd95 010ad109-f038-42e6-9efb-a24f5c53ea11 g.chr1:41582675C>T uc001cgo.3 - 6 759 c.390G>A c.(388-390)cgG>cgA p.R130R SCMH1_uc010ojr.2_Intron|SCMH1_uc001cgp.3_Silent_p.R69R|SCMH1_uc001cgr.3_Silent_p.R69R|SCMH1_uc001cgq.3_Silent_p.R83R|SCMH1_uc001cgs.3_Silent_p.R140R|SCMH1_uc001cgt.3_Silent_p.R69R|SCMH1_uc010ojs.1_Non-coding_Transcript NM_001031694 NP_001165692 Q96GD3 SCMH1_HUMAN Homo sapiens sex comb on midleg homolog 1 (Drosophila) (SCMH1), transcript variant 1, mRNA. 130 anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162) Myeloproliferative disorder(586;0.0393) ACGCATTCAGCCGAAATCCTG 0.478000 3 45 0 0 1 0 0 GAB4 128954 broad.mit.edu 37 22 17472966 17472966 + Missense_Mutation SNP C C T TCGA-ET-A25I-01A-11D-A16O-08 TCGA-ET-A25I-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69fbd819-2f6b-4fd4-86dd-f9370cbbcd95 010ad109-f038-42e6-9efb-a24f5c53ea11 g.chr22:17472966C>T uc002zlw.3 - 1 383 c.275G>A c.(274-276)cGc>cAc p.R92H GAB4_uc010gqs.1_Missense_Mutation_p.R92H NM_001037814 NP_001032903 Q2WGN9 GAB4_HUMAN Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA. 92 PH. p.R92P(2) breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_epithelial(15;0.112)|Lung NSC(13;0.248) GTTGATGGTGCGCAGGGGCTT 0.502000 18 244 0 0 1 0 0 CCDC129 223075 broad.mit.edu 37 7 31683024 31683024 + Missense_Mutation SNP G G T TCGA-ET-A25I-01A-11D-A16O-08 TCGA-ET-A25I-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69fbd819-2f6b-4fd4-86dd-f9370cbbcd95 010ad109-f038-42e6-9efb-a24f5c53ea11 g.chr7:31683024G>T uc011kae.2 + 10 2130 c.2118G>T c.(2116-2118)agG>agT p.R706S CCDC129_uc011kad.1_Missense_Mutation_p.R690S|CCDC129_uc003tcj.1_Missense_Mutation_p.R680S|CCDC129_uc003tci.1_Missense_Mutation_p.R531S|CCDC129_uc003tck.1_Missense_Mutation_p.R588S NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA. 680 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 TGAAGTCAAGGTCTGGTACTT 0.483000 25 29 0 0 1 0 0 LAMC1 3915 broad.mit.edu 37 1 183072526 183072526 + Missense_Mutation SNP C C G TCGA-ET-A25I-01A-11D-A16O-08 TCGA-ET-A25I-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69fbd819-2f6b-4fd4-86dd-f9370cbbcd95 010ad109-f038-42e6-9efb-a24f5c53ea11 g.chr1:183072526C>G uc001gpy.4 + 1 739 c.482C>G c.(481-483)gCc>gGc p.A161G LAMC1_uc001gpx.3_Missense_Mutation_p.A161G NM_002293 NP_002284 P11047 LAMC1_HUMAN Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA. 161 Laminin N-terminal. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAGAGCTTTGCCATTTACAAG 0.512000 61 104 0 0 1 0 0 TTF1 7270 broad.mit.edu 37 9 135275452 135275452 + Silent SNP A A G TCGA-ET-A25I-01A-11D-A16O-08 TCGA-ET-A25I-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69fbd819-2f6b-4fd4-86dd-f9370cbbcd95 010ad109-f038-42e6-9efb-a24f5c53ea11 g.chr9:135275452A>G uc004cbl.3 - 2 1630 c.1561T>C c.(1561-1563)Ttg>Ctg p.L521L TTF1_uc004cbm.3_Silent_p.L6L|TTF1_uc011mcp.2_Non-coding_Transcript NM_007344 NP_031370 Q15361 TTF1_HUMAN Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA. 521 negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) AACCGTTCCAAGTCGTCCCGG 0.473000 54 101 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140209539 140209539 + Silent SNP G G A TCGA-ET-A25I-01A-11D-A16O-08 TCGA-ET-A25I-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69fbd819-2f6b-4fd4-86dd-f9370cbbcd95 010ad109-f038-42e6-9efb-a24f5c53ea11 g.chr5:140209539G>A uc003lho.2 + 0 1890 c.1863G>A c.(1861-1863)ccG>ccA p.P621P PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Silent_p.P621P NM_018909 NP_061732 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA. 632 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCGCTTCCCGTTTCGCGTGG 0.657000 32 55 0 0 1 0 0 UNC45B 146862 broad.mit.edu 37 17 33507620 33507620 + Missense_Mutation SNP C C A TCGA-ET-A25I-01A-11D-A16O-08 TCGA-ET-A25I-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69fbd819-2f6b-4fd4-86dd-f9370cbbcd95 010ad109-f038-42e6-9efb-a24f5c53ea11 g.chr17:33507620C>A uc002hja.3 + 17 2401 c.2304C>A c.(2302-2304)aaC>aaA p.N768K UNC45B_uc002hjb.3_Missense_Mutation_p.N766K|UNC45B_uc002hjc.3_Missense_Mutation_p.N766K|UNC45B_uc010cto.3_Missense_Mutation_p.N687K NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA. 768 cell differentiation|muscle organ development cytosol binding p.E767K(1) breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) ACATCGAGAACTACATGTTTG 0.557000 30 63 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133900513 133900517 + Frame_Shift_Del DEL ATTCA ATTCA - TCGA-ET-A25I-01A-11D-A16O-08 TCGA-ET-A25I-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69fbd819-2f6b-4fd4-86dd-f9370cbbcd95 010ad109-f038-42e6-9efb-a24f5c53ea11 g.chr8:133900513_133900517delATTCA uc003ytw.3 + 9 2502_2506 c.2461_2465delATTCA c.(2461-2466)attcaafs p.I821fs NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 821 Thyroglobulin type-1 7. 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) CAGTCTCTTTATTCAAAGTCTGTAT 0.527 20 41 --- --- --- ---