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 ENST00000446231.2 - 62 11307 c.10895C>T c.(10894-10896)tCa>tTa p.S3632L RP11-1035H13.2_ENST00000569096.1_RNA|SMG1_ENST00000389467.3_Missense_Mutation_p.S3633L Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 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 0.001855 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 ENST00000369535.4 - 3 434 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). 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|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(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 1.13205e-32 1.93543e-32 0.014410 1 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 ENST00000409262.3 + 1 750 c.750T>C c.(748-750)ccT>ccC p.P250P NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 250 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 0.004672 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 ENST00000380060.3 + 6 1920 c.1582C>T c.(1582-1584)Cca>Tca p.P528S NHS_ENST00000398097.3_Missense_Mutation_p.P372S NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 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 0.006320 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 ENST00000521891.2 + 10 9614 c.9166C>T c.(9166-9168)Cgg>Tgg p.R3056W ZFHX4_ENST00000455469.2_Missense_Mutation_p.R3011W|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R3030W|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R3011W NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3011 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 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 0.001168 0 0 FAM86DP 0 broad.mit.edu 37 3 75475709 75475709 + RNA 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.chr3:75475709T>C ENST00000459803.1 - 0 820 NR_024241.1 p.I261V(1) CTCCGCAGGATCCCGACCAGC 0.562000 3 48 0 0 0.000602 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 ENST00000538966.1 + 5 1441 c.1170G>A c.(1168-1170)tcG>tcA p.S390S PLXNB3_ENST00000538776.1_Silent_p.S20S|PLXNB3_ENST00000361971.5_Silent_p.S367S|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Silent_p.S20S NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 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 0.007835 0 0 TBC1D3P2 0 broad.mit.edu 37 17 60342186 60342186 + RNA SNP T T C rs79096325 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.chr17:60342186T>C ENST00000581291.1 - 0 1967 breast(2)|kidney(1)|lung(2) 5 GCTGGGGGTGTTGGGAGGGGC 0.498000 3 12 0 0 0.004672 0 0 TBC1D3P2 0 broad.mit.edu 37 17 60342197 60342197 + RNA SNP T T C rs76635225 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.chr17:60342197T>C ENST00000581291.1 - 0 1956 breast(2)|kidney(1)|lung(2) 5 TGGGAGGGGCTGGGCATGGTT 0.488000 3 19 0 0 0.004672 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 ENST00000334270.2 - 3 1600 c.1561T>C c.(1561-1563)Ttg>Ctg p.L521L NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 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 0.014410 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 ENST00000377636.3 - 2 1034 c.688A>G c.(688-690)Agc>Ggc p.S230G TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.S230G|TBC1D4_ENST00000377625.2_Missense_Mutation_p.S230G NM_014832.2 NP_055647.2 O60343 TBCD4_HUMAN TBC1 domain family, member 4 230 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 0.000602 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 ENST00000291576.7 + 14 1854 c.1727T>A c.(1726-1728)gTg>gAg p.V576E NM_005049.2 NP_005040.2 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog (yeast) 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 0.007413 0 0 LMTK2 22853 broad.mit.edu 37 7 97820080 97820080 + Missense_Mutation SNP G G A rs139179986 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.chr7:97820080G>A ENST00000297293.5 + 10 1332 c.1039G>A c.(1039-1041)Gca>Aca p.A347T NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 347 Protein kinase. early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) TGACAATGCCGCACAGCCGTA 0.458000 5 318 0 0 0.001168 0 0 SYNE3 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 ENST00000334258.5 - 11 1967 c.1953C>G c.(1951-1953)tgC>tgG p.C651W SYNE3_ENST00000557275.1_Missense_Mutation_p.C651W|SYNE3_ENST00000554873.1_Missense_Mutation_p.C408W NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 GGCTGAAGGTGCAGTGCTCCT 0.682000 40 85 0 0 0.010771 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 ENST00000547588.1 - 1 926 c.927C>T c.(925-927)tcC>tcT p.S309S AGAP2_ENST00000257897.3_Intron NM_001122772.2 NP_001116244.1 Q99490 AGAP2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 309 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 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 0.004672 0 0 SNORD3A 0 broad.mit.edu 37 17 19091395 19091395 + RNA 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.chr17:19091395C>T ENST00000365494.1 + 0 67 acgtgtagagcaccgaaaacc 0.493000 24 284 0 0 0.008361 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 ENST00000402904.2 - 7 758 c.390G>A c.(388-390)cgG>cgA p.R130R SCMH1_ENST00000326197.7_Silent_p.R130R|SCMH1_ENST00000372595.1_Silent_p.R69R|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000397174.2_Silent_p.R110R|SCMH1_ENST00000337495.5_Silent_p.R140R|SCMH1_ENST00000397171.2_Silent_p.R69R|SCMH1_ENST00000372596.1_Silent_p.R69R|SCMH1_ENST00000361191.5_Silent_p.R69R|SCMH1_ENST00000361705.3_Silent_p.R83R|SCMH1_ENST00000372597.1_Silent_p.R83R NM_001031694.2 NP_001026864.1 Q96GD3 SCMH1_HUMAN sex comb on midleg homolog 1 (Drosophila) 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 0.004672 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 ENST00000400588.1 - 2 382 c.275G>A c.(274-276)cGc>cAc p.R92H GAB4_ENST00000523144.1_5'UTR NM_001037814.1 NP_001032903.1 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 4 92 PH. p.R92P(1) 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 0.007413 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 ENST00000319386.3 + 11 2589 c.1596G>T c.(1594-1596)agG>agT p.R532S CCDC129_ENST00000451887.2_Missense_Mutation_p.R706S|CCDC129_ENST00000409210.1_Missense_Mutation_p.R588S|CCDC129_ENST00000407970.3_Missense_Mutation_p.R680S Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 680 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 TGAAGTCAAGGTCTGGTACTT 0.483000 25 29 6.32553e-13 1.04767e-12 0.004656 1 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 ENST00000258341.4 + 2 739 c.482C>G c.(481-483)gCc>gGc p.A161G NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 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 0.014410 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 ENST00000246639.2 - 7 1300 c.1168T>C c.(1168-1170)Tcc>Ccc p.S390P KRT35_ENST00000393989.1_Missense_Mutation_p.S420P Q92764 KRT35_HUMAN keratin 35 420 Coil 2.|Rod. 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 0.004672 0 0 PCDHA6 0 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 ENST00000529310.1 + 1 1977 c.1863G>A c.(1861-1863)ccG>ccA p.P621P PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCGCTTCCCGTTTCGCGTGG 0.657000 32 55 0 0 0.004289 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 ENST00000268876.5 + 18 2401 c.2304C>A c.(2302-2304)aaC>aaA p.N768K UNC45B_ENST00000378449.1_Missense_Mutation_p.N687K|UNC45B_ENST00000433649.1_Missense_Mutation_p.N766K|UNC45B_ENST00000591048.1_Missense_Mutation_p.N687K|UNC45B_ENST00000394570.2_Missense_Mutation_p.N766K NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 768 cell differentiation|muscle organ development cytosol binding 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 7.01153e-11 1.12609e-10 0.007291 1 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 ENST00000317619.3 - 13 1355 c.961T>C c.(961-963)Tgg>Cgg p.W321R CPNE1_ENST00000397442.1_Missense_Mutation_p.W321R|CPNE1_ENST00000317677.5_Missense_Mutation_p.W326R|CPNE1_ENST00000397445.1_Missense_Mutation_p.W321R|CPNE1_ENST00000397443.1_Missense_Mutation_p.W321R|CPNE1_ENST00000352393.4_Missense_Mutation_p.W321R|CPNE1_ENST00000397446.1_Missense_Mutation_p.W321R Q99829 CPNE1_HUMAN copine I 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 0.001168 0 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes 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.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 6 101 0 0 0.004482 0 0 URGCP 55665 broad.mit.edu 37 7 43917655 43917663 + In_Frame_Del DEL ACACTCCTC ACACTCCTC - 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.chr7:43917655_43917663delACACTCCTC ENST00000336086.6 - 4 3506_3514 c.1270_1278delGAGGAGTGT c.(1270-1278)del p.EEC424del URGCP_ENST00000447717.3_In_Frame_Del_p.EEC424del|URGCP_ENST00000402306.3_In_Frame_Del_p.EEC458del|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_In_Frame_Del_p.EEC424del|URGCP_ENST00000453200.1_In_Frame_Del_p.EEC467del|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000443736.1_In_Frame_Del_p.EEC424del Q8TCY9 URGCP_HUMAN upregulator of cell proliferation 467 cell cycle centrosome|nucleus GTP binding breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TCGCTTTCTGACACTCCTCACAGTCCTCG 0.589 13 220 --- --- --- --- FAM66B 0 broad.mit.edu 37 8 7196263 7196264 + RNA DEL AC AC - 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.chr8:7196263_7196264delAC ENST00000606573.1 - 0 703 ACTGAGGGGTacacacacacac 0.500 2 4 --- --- --- --- 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 ENST00000220616.4 + 10 2501_2505 c.2461_2465delATTCA c.(2461-2466)afs p.IQ821fs TG_ENST00000377869.1_Frame_Shift_Del_p.IQ821fs NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 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 --- --- --- --- FTX 0 broad.mit.edu 37 X 73506653 73506654 + RNA INS - - A rs149262205 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:73506653_73506654insA ENST00000429124.1 - 0 174 acctgtcccttaaaaaaaaaaa 0.455 4 3 --- --- --- ---