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 NR2C1 7181 broad.mit.edu 37 12 95452139 95452139 + Missense_Mutation SNP C C T TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr12:95452139C>T ENST00000333003.5 - 5 821 c.491G>A c.(490-492)cGc>cAc p.R164H NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000393101.3_Missense_Mutation_p.R164H|NR2C1_ENST00000330677.7_Missense_Mutation_p.R164H NM_003297.3 NP_003288.2 P13056 NR2C1_HUMAN nuclear receptor subfamily 2, group C, member 1 164 Required for interaction with KAT2B (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor PML body sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1) 13 GTATTGACAGCGGTTTCGGTG 0.348000 5 61 0 0 1 0 0 DENND2C 163259 broad.mit.edu 37 1 115142031 115142031 + Missense_Mutation SNP T T C TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr1:115142031T>C ENST00000393274.1 - 16 2772 c.2147A>G c.(2146-2148)tAt>tGt p.Y716C DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Intron|DENND2C_ENST00000393276.3_Missense_Mutation_p.Y659C NM_001256404.1 NP_001243333.1 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 716 DENN. NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-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) GGTGAACGGATACAGTGTAGC 0.458000 8 33 0 0 1 0 0 TM9SF4 9777 broad.mit.edu 37 20 30732918 30732918 + Missense_Mutation SNP C C T TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr20:30732918C>T ENST00000217315.5 + 7 966 c.626C>T c.(625-627)tCg>tTg p.S209L TM9SF4_ENST00000398022.2_Missense_Mutation_p.S226L Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 226 integral to membrane central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GAGAAGAGTTCGTGCACTCTG 0.562000 8 30 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126336650 126336650 + Missense_Mutation SNP G G A TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr4:126336650G>A ENST00000394329.3 + 5 6545 c.6532G>A c.(6532-6534)Gca>Aca p.A2178T FAT4_ENST00000335110.5_Missense_Mutation_p.A476T NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2178 Cadherin 21. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A2178S(2)|p.A2178P(2) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ACAAGTGTTCGCAGCAGATGG 0.398000 13 81 0 0 1 0 0 NGEF 25791 broad.mit.edu 37 2 233759485 233759485 + Missense_Mutation SNP C C T TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr2:233759485C>T ENST00000264051.3 - 6 1248 c.970G>A c.(970-972)Gtg>Atg p.V324M NGEF_ENST00000539537.1_Missense_Mutation_p.V47M|NGEF_ENST00000373552.4_Missense_Mutation_p.V232M|NGEF_ENST00000409079.1_Missense_Mutation_p.V232M NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 324 DH. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) ACAGCCAGCACGTCCAGGACG 0.602000 7 37 0 0 1 0 0 SLC6A14 11254 broad.mit.edu 37 X 115576109 115576109 + Missense_Mutation SNP G G A TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chrX:115576109G>A ENST00000371900.4 + 6 768 c.680G>A c.(679-681)aGt>aAt p.S227N NM_007231.3 NP_009162.1 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid transporter), member 14 227 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) CAACGGTCAAGTGGAATGAAT 0.368000 10 19 0 0 1 0 0 DLGAP3 58512 broad.mit.edu 37 1 35370518 35370518 + Missense_Mutation SNP G G A rs144823481 TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr1:35370518G>A ENST00000373347.1 - 3 735 c.467C>T c.(466-468)aCg>aTg p.T156M DLGAP3_ENST00000235180.4_Missense_Mutation_p.T156M O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 156 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) GGCAGTGCCCGTCCCTGGCGC 0.622000 4 20 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216243939 216243939 + Missense_Mutation SNP G G A TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr2:216243939G>A ENST00000354785.4 - 34 5905 c.5536C>T c.(5536-5538)Cgg>Tgg p.R1846W FN1_ENST00000359671.1_Missense_Mutation_p.R1755W|FN1_ENST00000357867.4_Missense_Mutation_p.R1665W|FN1_ENST00000490833.1_5'UTR|FN1_ENST00000336916.4_Missense_Mutation_p.R1755W|FN1_ENST00000356005.4_Missense_Mutation_p.R1665W|FN1_ENST00000323926.6_Missense_Mutation_p.R1846W|FN1_ENST00000357009.2_Missense_Mutation_p.R1755W|FN1_ENST00000346544.3_Missense_Mutation_p.R1755W|FN1_ENST00000345488.5_Missense_Mutation_p.R1755W|FN1_ENST00000421182.1_Missense_Mutation_p.R1665W|FN1_ENST00000443816.1_Missense_Mutation_p.R1665W|FN1_ENST00000446046.1_Missense_Mutation_p.R1755W|FN1_ENST00000432072.2_Missense_Mutation_p.R1756W P02751 FINC_HUMAN fibronectin 1 1847 Binds to FBLN1.|Fibronectin type-III 14.|Heparin-binding 2. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGGGTCACCCGCACTCGATAT 0.527000 7 47 0 0 1 0 0 MFN2 9927 broad.mit.edu 37 1 12058885 12058885 + Missense_Mutation SNP G G T TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr1:12058885G>T ENST00000235329.5 + 7 980 c.658G>T c.(658-660)Gct>Tct p.A220S MFN2_ENST00000444836.1_Missense_Mutation_p.A220S NM_014874.3 NP_055689.1 O95140 MFN2_HUMAN mitofusin 2 220 blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion cytosol|integral to membrane|intrinsic to mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 20 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) TTGTCTGGATGCTGATGTGTT 0.552000 23 165 5.26018e-13 5.77588e-13 1 1 0 PNLIP 5406 broad.mit.edu 37 10 118306869 118306869 + Missense_Mutation SNP C C T rs140844816 TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr10:118306869C>T ENST00000369221.2 + 3 138 c.110C>T c.(109-111)aCg>aTg p.T37M PNLIP_ENST00000470562.1_3'UTR NM_000936.2 NP_000927.1 P16233 LIPP_HUMAN pancreatic lipase 37 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 43 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) TCAGGAATTACGGAAAGACCC 0.428000 14 53 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 48 0 0 1 0 0 PHF16 0 broad.mit.edu 37 X 46913789 46913789 + Missense_Mutation SNP G G A TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chrX:46913789G>A ENST00000218343.4 + 9 1500 c.1202G>A c.(1201-1203)cGg>cAg p.R401Q PHF16_ENST00000397189.1_Missense_Mutation_p.R401Q NM_014735.3 NP_055550.1 Q92613 JADE3_HUMAN 401 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2) 33 CAGAAGCTTCGGGAGCTGGAG 0.542000 9 17 0 0 1 0 0 HIP1R 9026 broad.mit.edu 37 12 123345916 123345916 + Missense_Mutation SNP G G A TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr12:123345916G>A ENST00000253083.4 + 31 3139 c.3014G>A c.(3013-3015)cGg>cAg p.R1005Q NM_003959.1 NP_003950.1 O75146 HIP1R_HUMAN huntingtin interacting protein 1 related 1005 I/LWEQ. receptor-mediated endocytosis clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm actin binding|phosphatidylinositol binding breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2) GGGGAGTTGCGGAAGCAACAC 0.657000 4 31 0 0 1 0 0 PCDHAC1 0 broad.mit.edu 37 5 140308818 140308818 + Nonsense_Mutation SNP C C T TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr5:140308818C>T ENST00000253807.2 + 1 2341 c.2341C>T c.(2341-2343)Cga>Tga p.R781* PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHAC1_ENST00000409700.3_Nonsense_Mutation_p.R781*|PCDHA13_ENST00000289272.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCCGACCTGCGAAATCTTGC 0.468000 16 60 0 0 1 0 0 POM121C 100101267 broad.mit.edu 37 7 75066917 75066917 + Missense_Mutation SNP T T C TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr7:75066917T>C ENST00000453279.2 - 7 1220 c.356A>G c.(355-357)cAc>cGc p.H119R POM121C_ENST00000257665.5_Missense_Mutation_p.H361R NM_001099415.1 NP_001092885.1 A8CG34 P121C_HUMAN POM121 transmembrane nucleoporin C 361 Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex. mRNA transport|protein transport|transmembrane transport endoplasmic reticulum membrane|nuclear membrane|nuclear pore protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 CTTATTCAAGTGGTCATCTGA 0.473000 21 58 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13414687 13414687 + Silent SNP G G A TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr19:13414687G>A ENST00000360228.5 - 16 1997 c.1998C>T c.(1996-1998)ggC>ggT p.G666G CACNA1A_ENST00000573710.2_Silent_p.G667G NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 667 T -> M (in FHM1 and EA2; dbSNP:rs121908212). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TCCAGTCTTCGCCCGTCAGGA 0.592000 20 92 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121383372 121383372 + Silent SNP T T C TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr3:121383372T>C ENST00000393667.3 - 22 9875 c.9765A>G c.(9763-9765)ctA>ctG p.L3255L GOLGB1_ENST00000340645.5_Silent_p.L3245L NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 3245 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) CATGAATCATTAGAAAGTAGA 0.478000 11 33 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49725284 49725284 + Silent SNP C C T TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr3:49725284C>T ENST00000449682.2 - 2 502 c.141G>A c.(139-141)gaG>gaA p.E47E MST1_ENST00000545762.1_Silent_p.E33E|MST1_ENST00000494828.2_Intron|MST1_ENST00000383728.3_Intron NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 33 PAN. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GGTGCTGTAGCTCTGTGCCCC 0.597000 5 14 0 0 1 0 0 SHROOM2 357 broad.mit.edu 37 X 9900641 9900641 + Silent SNP G G T TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chrX:9900641G>T ENST00000380913.3 + 6 3408 c.3318G>T c.(3316-3318)gtG>gtT p.V1106V SHROOM2_ENST00000418909.2_5'UTR|SHROOM2_ENST00000493668.1_3'UTR NM_001649.2 NP_001640.1 Q13796 SHRM2_HUMAN shroom family member 2 1106 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) ATGTGTATGTGGCCCGCCTGT 0.672000 7 12 0.00198382 0.00198382 1 1 0 KRT4 3851 broad.mit.edu 37 12 53202551 53202551 + Silent SNP G G A TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr12:53202551G>A ENST00000551956.1 - 5 1410 c.918C>T c.(916-918)agC>agT p.S306S KRT4_ENST00000458244.2_Silent_p.S286S|KRT4_ENST00000293774.4_Silent_p.S380S B4DRS2 B4DRS2_HUMAN keratin 4 306 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 CGGCAATAATGCTGTCCAGGT 0.577000 18 50 0 0 1 0 0 MYCT1 80177 broad.mit.edu 37 6 153043116 153043116 + Nonsense_Mutation SNP C C T TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr6:153043116C>T ENST00000367245.5 + 2 444 c.436C>T c.(436-438)Cga>Tga p.R146* MYCT1_ENST00000529453.1_Intron NM_025107.2 NP_079383.2 Q8N699 MYCT1_HUMAN myc target 1 146 nucleus NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 20 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) CACCTTCCAGCGACAAGCTTC 0.498000 10 62 0 0 1 0 0 HIST1H4E 8367 broad.mit.edu 37 6 26205164 26205164 + Missense_Mutation SNP C C T TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr6:26205164C>T ENST00000360441.4 + 1 307 c.292C>T c.(292-294)Ctt>Ttt p.L98F NM_003545.3 NP_003536.1 P62805 H4_HUMAN histone cluster 1, H4e 98 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 18 all_hematologic(11;0.196) GGGACGCACTCTTTACGGCTT 0.532000 12 28 0 0 1 0 0 LIG4 3981 broad.mit.edu 37 13 108862028 108862028 + Missense_Mutation SNP T T C TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr13:108862028T>C ENST00000356922.4 - 2 1861 c.1589A>G c.(1588-1590)cAt>cGt p.H530R LIG4_ENST00000405925.1_Missense_Mutation_p.H530R|LIG4_ENST00000442234.1_Missense_Mutation_p.H530R NM_002312.3|NM_206937.1 NP_002303.2|NP_996820.1 P49917 DNLI4_HUMAN ligase IV, DNA, ATP-dependent 530 cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) AGCTTTTCTATGAAAAGGCTT 0.418000 Non-homologous end-joining 19 66 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 5 30 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887612 12887612 + Missense_Mutation SNP T T C rs60558629 TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr1:12887612T>C ENST00000535591.1 - 3 440 c.245A>G c.(244-246)cAt>cGt p.H82R NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 82 p.H82R(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GAAGCACCCATGGGCCATAGC 0.488000 5 233 0 0 1 0 0 KRT4 3851 broad.mit.edu 37 12 53202552 53202552 + Missense_Mutation SNP C C A TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr12:53202552C>A ENST00000551956.1 - 5 1409 c.917G>T c.(916-918)aGc>aTc p.S306I KRT4_ENST00000458244.2_Missense_Mutation_p.S286I|KRT4_ENST00000293774.4_Missense_Mutation_p.S380I B4DRS2 B4DRS2_HUMAN keratin 4 306 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 GGCAATAATGCTGTCCAGGTC 0.582000 18 50 9.7654e-05 0.000101271 1 1 0 FRG1 2483 broad.mit.edu 37 4 190874231 190874231 + Missense_Mutation SNP G G A TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr4:190874231G>A ENST00000226798.4 + 4 490 c.268G>A c.(268-270)Ggc>Agc p.G90S FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 90 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) AGTTGATGAGGGCCCTAGTCC 0.284000 3 35 0 0 1 0 0 PCDHA9 0 broad.mit.edu 37 5 140228379 140228379 + Missense_Mutation SNP C C T TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr5:140228379C>T ENST00000378122.3 + 1 1023 c.299C>T c.(298-300)gCg>gTg p.A100V PCDHA9_ENST00000532602.1_Missense_Mutation_p.A100V|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGCGGAGCGCGGAGTGCAGC 0.567000 21 123 0 0 1 0 0 ARHGEF38 54848 broad.mit.edu 37 4 106473931 106473931 + Silent SNP C C T TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr4:106473931C>T ENST00000420470.2 + 1 153 c.9C>T c.(7-9)ccC>ccT p.P3P ARHGEF38_ENST00000265154.2_Silent_p.P3P NM_001242729.1 NP_001229658.1 Q9NXL2 ARH38_HUMAN Rho guanine nucleotide exchange factor (GEF) 38 3 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3) 11 ATATGGAGCCCAAAGAAGCCA 0.473000 4 72 0 0 1 0 0 RBMS3 27303 broad.mit.edu 37 3 30029706 30029706 + Missense_Mutation SNP T T C TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr3:30029706T>C ENST00000434693.2 + 13 1868 c.1168T>C c.(1168-1170)Tct>Cct p.S390P RBMS3_ENST00000456853.1_Missense_Mutation_p.S388P|RBMS3_ENST00000383767.2_Missense_Mutation_p.S391P|RBMS3_ENST00000383766.2_Missense_Mutation_p.S373P|RBMS3_ENST00000396583.3_Missense_Mutation_p.S388P|RBMS3_ENST00000473799.1_3'UTR|RBMS3_ENST00000452462.1_Missense_Mutation_p.S375P|RBMS3_ENST00000273139.9_Missense_Mutation_p.S375P NM_001003793.2 NP_001003793.1 Q6XE24 RBMS3_HUMAN RNA binding motif, single stranded interacting protein 3 391 cytoplasm nucleotide binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 11 Ovarian(412;0.0956) GACAGCTGTTTCTATTGAAGT 0.423000 5 18 0 0 1 0 0 P2RY14 9934 broad.mit.edu 37 3 150931217 150931217 + Missense_Mutation SNP G G T TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr3:150931217G>T ENST00000309170.3 - 3 1200 c.888C>A c.(886-888)ttC>ttA p.F296L P2RY14_ENST00000424796.2_Missense_Mutation_p.F296L|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron NM_001081455.1|NM_014879.3 NP_001074924.1|NP_055694.3 Q15391 P2Y14_HUMAN purinergic receptor P2Y, G-protein coupled, 14 296 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1) 20 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GGCATAGAAAGAAATAAATAA 0.363000 16 69 0.000422831 0.000430519 1 1 0 ALK 238 broad.mit.edu 37 2 29917842 29917842 + Missense_Mutation SNP A A C TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr2:29917842A>C ENST00000389048.3 - 3 1732 c.826T>G c.(826-828)Tat>Gat p.Y276D ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 276 MAM 1. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GGAGGGGAATACTCCAGCTCA 0.577000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 15 48 0 0 1 0 0 NUP214 8021 broad.mit.edu 37 9 134034812 134034812 + Missense_Mutation SNP G G A TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr9:134034812G>A ENST00000359428.5 + 18 2623 c.2479G>A c.(2479-2481)Gat>Aat p.D827N RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000589128.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000417798.2_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.D828N|RP11-544A12.4_ENST00000589540.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.D817N|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA P35658 NU214_HUMAN nucleoporin 214kDa 827 11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) TGCTGTCCAAGATGTGAATGA 0.363000 T """DEK, SET, ABL1""" """AML, T-ALL""" 10 29 0 0 1 0 0 IGKV2-30 0 broad.mit.edu 37 2 89544412 89544412 + RNA SNP C C T TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr2:89544412C>T ENST00000468494.1 - 0 241 ATAAATTAGGCGCCTTGGAGA 0.522000 30 97 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152327955 152327955 + Silent SNP G G A TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr1:152327955G>A ENST00000388718.5 - 3 2379 c.2307C>T c.(2305-2307)agC>agT p.S769S FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 769 Ser-rich. calcium ion binding|structural molecule activity p.S769S(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTTGGCCATAGCTAGACTGAC 0.517000 7 318 0 0 1 0 0 RHOA 387 broad.mit.edu 37 3 49412958 49412958 + Missense_Mutation SNP A A C TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr3:49412958A>C ENST00000418115.1 - 2 449 c.65T>G c.(64-66)cTc>cGc p.L22R RHOA_ENST00000454011.2_Missense_Mutation_p.L22R|RHOA_ENST00000422781.1_Missense_Mutation_p.L22R NM_001664.2 NP_001655.1 P61586 RHOA_HUMAN ras homolog family member A 22 axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) GAAGACTATGAGCAAGCATGT 0.473000 21 89 0 0 1 0 0 B9D1 27077 broad.mit.edu 37 17 19247157 19247157 + Missense_Mutation SNP G G A TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr17:19247157G>A ENST00000461069.2 - 6 462 c.418C>T c.(418-420)Cgg>Tgg p.R140W B9D1_ENST00000395615.1_Missense_Mutation_p.R140W|B9D1_ENST00000477478.2_Silent_p.G115G|B9D1_ENST00000395616.3_Missense_Mutation_p.R140W|B9D1_ENST00000261499.4_Missense_Mutation_p.R140W|B9D1_ENST00000575403.1_Silent_p.G115G Q9UPM9 B9D1_HUMAN B9 protein domain 1 140 cilium assembly centrosome|microtubule basal body protein binding p.R140W(1) large_intestine(3)|urinary_tract(1) 4 all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143) TCGGGCCGCCGCCCCATGAAC 0.617000 7 34 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 48 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7810767 7810767 + Missense_Mutation SNP G G A rs146082308 TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr19:7810767G>A ENST00000315599.7 - 4 407 c.385C>T c.(385-387)Cgg>Tgg p.R129W CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000394161.5_Intron|CD209_ENST00000394173.4_Intron|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000602261.1_Missense_Mutation_p.R129W NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 129 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding p.R129W(4) endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GCCTTCAGCCGGGTCAGCTCC 0.567000 5 124 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55450938 55450938 + Missense_Mutation SNP G G A TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr19:55450938G>A ENST00000588756.1 - 6 1735 c.1249C>T c.(1249-1251)Ctc>Ttc p.L417F NLRP7_ENST00000592784.1_Missense_Mutation_p.L417F|NLRP7_ENST00000590030.1_Missense_Mutation_p.L417F|NLRP7_ENST00000328092.5_Missense_Mutation_p.L417F|NLRP7_ENST00000340844.2_Missense_Mutation_p.L417F|NLRP7_ENST00000446217.1_Missense_Mutation_p.L445F|NLRP7_ENST00000448121.2_Missense_Mutation_p.L417F Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 417 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GCGGCCAGGAGGCTCAGCGTC 0.706000 6 24 0 0 1 0 0 TMEM145 284339 broad.mit.edu 37 19 42821926 42821926 + Silent SNP G G A TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr19:42821926G>A ENST00000598766.1 + 12 1038 c.1038G>A c.(1036-1038)ctG>ctA p.L346L TMEM145_ENST00000301204.3_Silent_p.L322L Q8NBT3 TM145_HUMAN transmembrane protein 145 322 integral to membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 27 Prostate(69;0.00682) TCATTGGACTGCAGGTGGCGG 0.567000 3 43 0 0 1 0 0 NELL2 4753 broad.mit.edu 37 12 45209834 45209834 + Missense_Mutation SNP C C A TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr12:45209834C>A ENST00000429094.2 - 3 774 c.270G>T c.(268-270)ttG>ttT p.L90F NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000551601.1_Missense_Mutation_p.L89F|NELL2_ENST00000548826.1_Missense_Mutation_p.L90F|NELL2_ENST00000549027.1_Missense_Mutation_p.L89F|NELL2_ENST00000395487.2_Missense_Mutation_p.L89F|NELL2_ENST00000333837.4_Missense_Mutation_p.L113F|NELL2_ENST00000452445.2_Missense_Mutation_p.L90F|NELL2_ENST00000437801.2_Missense_Mutation_p.L140F NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 90 TSP N-terminal. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) TTAGGGTCACCAAAATAGTAA 0.368000 21 71 3.62473e-10 3.82991e-10 1 1 0 PRAMEF11 440560 broad.mit.edu 37 1 12887686 12887686 + Silent SNP T T C rs59802947 by1000genomes TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr1:12887686T>C ENST00000535591.1 - 3 366 c.171A>G c.(169-171)agA>agG p.R57R NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 57 p.R57R(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GAAGTTTCCATCTCCTGTGGG 0.468000 6 174 0 0 1 0 0 TROVE2 6738 broad.mit.edu 37 1 193038185 193038185 + Translation_Start_Site SNP A A T TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr1:193038185A>T ENST00000416058.2 + 0 371 TROVE2_ENST00000367441.1_Start_Codon_SNP_p.M1L|TROVE2_ENST00000367443.1_Start_Codon_SNP_p.M1L|TROVE2_ENST00000367444.3_Start_Codon_SNP_p.M1L|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000432079.1_Intron|TROVE2_ENST00000367446.3_Start_Codon_SNP_p.M1L|TROVE2_ENST00000400968.2_Start_Codon_SNP_p.M1L|TROVE2_ENST00000367445.3_Start_Codon_SNP_p.M1L P10155 RO60_HUMAN TROVE domain family, member 2 transcription from RNA polymerase III promoter cytoplasm|nucleus|ribonucleoprotein complex protein binding|RNA binding biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1) 21 ACAAAAAAAAATGGAGGAATC 0.353000 6 25 0 0 1 0 0 HADHB 3032 broad.mit.edu 37 2 26492860 26492860 + Silent SNP G G A TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr2:26492860G>A ENST00000317799.5 + 5 353 c.249G>A c.(247-249)gcG>gcA p.A83A HADHB_ENST00000545822.1_Silent_p.A61A|HADHB_ENST00000537713.1_Intron|HADHB_ENST00000405867.3_Silent_p.A83A|HADHB_ENST00000494615.1_3'UTR NM_000183.2 NP_000174.1 P55084 ECHB_HUMAN hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit 83 fatty acid beta-oxidation mitochondrial nucleoid 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTAGAGCAGCGCTTACGTAAG 0.343000 9 64 0 0 1 0 0 HEPHL1 341208 broad.mit.edu 37 11 93800893 93800893 + Missense_Mutation SNP G G T TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr11:93800893G>T ENST00000315765.9 + 5 1048 c.1040G>T c.(1039-1041)tGc>tTc p.C347F NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 347 Plastocyanin-like 2. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) ATGATAACCTGCCAGGTCAGC 0.468000 10 31 2.74318e-10 2.95419e-10 1 1 0 BRPF1 7862 broad.mit.edu 37 3 9782470 9782470 + Frame_Shift_Del DEL A A - TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr3:9782470delA ENST00000383829.2 + 4 1971 c.1567delA c.(1567-1569)aafs p.K523fs BRPF1_ENST00000457855.1_Frame_Shift_Del_p.K523fs|BRPF1_ENST00000433861.2_Frame_Shift_Del_p.K523fs|BRPF1_ENST00000424362.1_Frame_Shift_Del_p.K523fs|BRPF1_ENST00000302054.3_Frame_Shift_Del_p.K523fs NM_001003694.1 NP_001003694.1 P55201 BRPF1_HUMAN bromodomain and PHD finger containing, 1 523 Interaction with MEAF6 and ING5. histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 Medulloblastoma(99;0.227) CAGGCTTAGTAAAATCACCAA 0.522 16 67 --- --- --- --- KCNN2 3781 broad.mit.edu 37 5 113698631 113698632 + In_Frame_Ins INS - - GCC rs34838882 by1000genomes TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr5:113698631_113698632insGCC ENST00000512097.3 + 2 1177_1178 c.159_160insGCC c.(157-162)gcccgc>gcGCCccgc p.53_54AR>APR KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 53 Poly-Ala. integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) CTGCAGCCGCTGCCGCCGCCGC 0.703 5 7 --- --- --- --- FLT1 2321 broad.mit.edu 37 13 29068965 29068965 + Frame_Shift_Del DEL C C - TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr13:29068965delC ENST00000282397.4 - 1 267 c.16delG c.(16-18)acfs p.D6fs FLT1_ENST00000539099.1_Frame_Shift_Del_p.D6fs|FLT1_ENST00000541932.1_Frame_Shift_Del_p.D6fs NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 6 cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) ACCCCGGTGTCCCAGTAGCTG 0.751 2 4 --- --- --- --- CHRNA3 0 broad.mit.edu 37 15 78913068 78913070 + In_Frame_Del DEL CAG CAG - rs72025661 TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr15:78913068_78913070delCAG ENST00000326828.5 - 1 451_453 c.67_69delCTG c.(67-69)del p.L23del CHRNA3_ENST00000348639.3_In_Frame_Del_p.L23del NM_000743.4 NP_000734.2 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 (neuronal) 23 Missing. activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 gcagcagagacagcagcagcagc 0.768 2 4 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-ZG-A9LY-01A-11D-A41K-08 TCGA-ZG-A9LY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1f1c7e-8d3b-4323-a37d-767b65089dbf 5c2da700-8b1e-4ca3-8960-f8f0028ca0d8 g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 7 35 --- --- --- ---