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 ANAPC1 64682 broad.mit.edu 37 2 112608394 112608394 + Missense_Mutation SNP T T C TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr2:112608394T>C ENST00000341068.3 - 14 2381 c.1609A>G c.(1609-1611)Act>Gct p.T537A NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 537 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|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|cytosol|nucleoplasm p.T537A(5) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 GGCTTTGGAGTACTAACGCCA 0.433000 4 188 0 0 1 0 0 GABRB1 2560 broad.mit.edu 37 4 47427733 47427733 + Missense_Mutation SNP C C T TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr4:47427733C>T ENST00000295454.3 + 9 1415 c.1123C>T c.(1123-1125)Cgg>Tgg p.R375W GABRB1_ENST00000538619.1_Missense_Mutation_p.R305W NM_000812.3 NP_000803.2 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 1 375 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CCTGGAAATCCGGAATGAGAC 0.562000 8 166 0 0 1 0 0 NIF3L1 60491 broad.mit.edu 37 2 201756971 201756971 + Missense_Mutation SNP G G A TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr2:201756971G>A ENST00000409020.1 + 2 599 c.305G>A c.(304-306)cGc>cAc p.R102H NIF3L1_ENST00000359683.4_Missense_Mutation_p.R75H|NIF3L1_ENST00000409357.1_Missense_Mutation_p.R102H|NIF3L1_ENST00000409588.1_Missense_Mutation_p.R102H|NIF3L1_ENST00000416651.1_Missense_Mutation_p.R102H Q9GZT8 NIF3L_HUMAN NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae) 102 positive regulation of transcription, DNA-dependent transcription factor binding p.R102H(1)|p.R75H(1) cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2) 13 CCCATGAAGCGCATAACCTGG 0.547000 4 195 0 0 1 0 0 NFE2L1 4779 broad.mit.edu 37 17 46136011 46136011 + Missense_Mutation SNP G G C TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr17:46136011G>C ENST00000362042.3 + 6 1943 c.1327G>C c.(1327-1329)Gat>Cat p.D443H NFE2L1_ENST00000582155.1_Missense_Mutation_p.D255H|NFE2L1_ENST00000585291.1_Missense_Mutation_p.D413H|NFE2L1_ENST00000361665.3_Missense_Mutation_p.D432H|NFE2L1_ENST00000357480.5_Missense_Mutation_p.D413H|NFE2L1_ENST00000583378.1_Missense_Mutation_p.D244H|NFE2L1_ENST00000536222.1_Missense_Mutation_p.D287H NM_003204.2 NP_003195.1 Q14494 NF2L1_HUMAN nuclear factor, erythroid 2-like 1 443 anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GGGTCTGTTAGATGAAGCTAT 0.547000 37 118 0 0 1 0 0 VAV1 7409 broad.mit.edu 37 19 6822285 6822285 + Missense_Mutation SNP C C T TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr19:6822285C>T ENST00000304076.2 + 5 597 c.503C>T c.(502-504)gCg>gTg p.A168V VAV1_ENST00000599806.1_Missense_Mutation_p.A113V|VAV1_ENST00000602142.1_Missense_Mutation_p.A168V|VAV1_ENST00000596764.1_Missense_Mutation_p.A168V|VAV1_ENST00000539284.1_Missense_Mutation_p.A103V NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 168 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 AATGAGGAGGCGGAAGGCGAC 0.647000 3 22 0 0 1 0 0 PNPLA5 150379 broad.mit.edu 37 22 44285287 44285287 + Missense_Mutation SNP G G T TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr22:44285287G>T ENST00000216177.4 - 4 756 c.624C>A c.(622-624)aaC>aaA p.N208K PNPLA5_ENST00000597664.1_Missense_Mutation_p.N208K|PNPLA5_ENST00000593866.1_Missense_Mutation_p.N94K|PNPLA5_ENST00000381198.2_Missense_Mutation_p.N94K NM_138814.3 NP_620169.1 Q7Z6Z6 PLPL5_HUMAN patatin-like phospholipase domain containing 5 208 lipid catabolic process hydrolase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 16 all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222) AGTTGAAGACGTTCAGCTCAT 0.577000 5 280 0.184627 0.18832 1 1 0 SLC25A28 81894 broad.mit.edu 37 10 101373523 101373523 + Silent SNP G G A TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr10:101373523G>A ENST00000370495.4 - 2 478 c.450C>T c.(448-450)gcC>gcT p.A150A SLC25A28_ENST00000496035.1_5'UTR NM_031212.3 NP_112489.3 Q96A46 MFRN2_HUMAN solute carrier family 25 (mitochondrial iron transporter), member 28 150 ion transport|iron ion homeostasis integral to membrane|mitochondrial inner membrane endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1) 11 Colorectal(252;0.234) Epithelial(162;2.57e-10)|all cancers(201;2.01e-08) TTTCGTAGCAGGCAAAATAAA 0.532000 16 68 0 0 1 0 0 PCDHA12 0 broad.mit.edu 37 5 140256667 140256667 + Missense_Mutation SNP C C T TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr5:140256667C>T ENST00000398631.2 + 1 1610 c.1610C>T c.(1609-1611)gCg>gTg p.A537V PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGTGAGCGCGCGCGACGCC 0.687000 7 336 0 0 1 0 0 PDCD5 9141 broad.mit.edu 37 19 33077770 33077770 + Missense_Mutation SNP G G C TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr19:33077770G>C ENST00000590247.1 + 5 459 c.265G>C c.(265-267)Gaa>Caa p.E89Q PDCD5_ENST00000586035.1_Missense_Mutation_p.E51Q|PDCD5_ENST00000379316.3_Intron|PDCD5_ENST00000592786.1_Missense_Mutation_p.R58T NM_004708.3 NP_004699.1 O14737 PDCD5_HUMAN programmed cell death 5 89 apoptosis|induction of apoptosis cytoplasm|nucleus DNA binding breast(1)|large_intestine(2)|lung(1)|ovary(1) 5 Esophageal squamous(110;0.137) CTAGGTATCAGAACAAGGTTT 0.343000 23 94 0 0 1 0 0 FAM86EP 0 broad.mit.edu 37 4 3948417 3948417 + RNA SNP C C G TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr4:3948417C>G ENST00000313946.8 - 0 1232 ACGCCGGCGCCCAGTTCTTTC 0.652000 21 53 0 0 1 0 0 PCDHB16 0 broad.mit.edu 37 5 140563584 140563584 + Missense_Mutation SNP G G A TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr5:140563584G>A ENST00000361016.2 + 1 2605 c.1450G>A c.(1450-1452)Gcc>Acc p.A484T NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 484 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.A484T(1) breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGCACCAACGCCCAGGTCAC 0.652000 82 349 0 0 1 0 0 SKIDA1 387640 broad.mit.edu 37 10 21805483 21805483 + Silent SNP C C T TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr10:21805483C>T ENST00000449193.2 - 4 3521 c.1269G>A c.(1267-1269)gaG>gaA p.E423E SKIDA1_ENST00000444772.3_Silent_p.E344E NM_207371.3 NP_997254.3 SKI/DACH domain containing 1 cctcctcttcctcctcctcct 0.627000 3 5 0 0 1 0 0 ANXA7 310 broad.mit.edu 37 10 75139867 75139867 + Silent SNP G G A rs138551538 TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr10:75139867G>A ENST00000372921.4 - 10 1067 c.1011C>T c.(1009-1011)acC>acT p.T337T ANXA7_ENST00000535178.1_Silent_p.T207T NM_001156.3 NP_001147.1 P20073 ANXA7_HUMAN annexin A7 359 calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding p.T359T(2) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 26 Prostate(51;0.0119) AAGATTCATCGGTCCCTAGTC 0.458000 52 434 0 0 1 0 0 PCDHB17 0 broad.mit.edu 37 5 140537079 140537079 + Silent SNP C C T TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr5:140537079C>T ENST00000539533.1 + 1 1503 c.1503C>T c.(1501-1503)ctC>ctT p.L501L ACCTGCCCCTCGCCTCCCTGG 0.652000 96 266 0 0 1 0 0 ZNF165 7718 broad.mit.edu 37 6 28057219 28057219 + Missense_Mutation SNP A A C TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr6:28057219A>C ENST00000377325.1 + 4 1985 c.1429A>C c.(1429-1431)Att>Ctt p.I477L NM_003447.3 NP_003438.1 P49910 ZN165_HUMAN zinc finger protein 165 477 viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 ACACCAGAGAATTCACATGAG 0.333000 30 67 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659741 24659741 + RNA SNP G G A rs144618782 by1000genomes TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr22:24659741G>A ENST00000414583.2 + 0 3266 NR_003714.1 CTGTGGGAGGGGGGAATGTTC 0.622000 3 35 0 0 1 0 0 RAPH1 65059 broad.mit.edu 37 2 204305685 204305685 + Missense_Mutation SNP G G A TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr2:204305685G>A ENST00000319170.5 - 14 2527 c.2228C>T c.(2227-2229)cCg>cTg p.P743L RAPH1_ENST00000457812.1_Intron|RAPH1_ENST00000374493.3_Missense_Mutation_p.P795L NM_213589.1 NP_998754.1 Q70E73 RAPH1_HUMAN Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 743 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TGGAGGAGGCGGGGCACTGAA 0.642000 23 199 0 0 1 0 0 SP100 6672 broad.mit.edu 37 2 231368925 231368925 + Missense_Mutation SNP A A G TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr2:231368925A>G ENST00000264052.5 + 21 2145 c.1790A>G c.(1789-1791)aAt>aGt p.N597S SP100_ENST00000340126.4_Missense_Mutation_p.N597S|SP100_ENST00000409112.1_Missense_Mutation_p.N597S NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen 597 SAND. DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AAAGATGAAAATATTAATTTT 0.408000 5 139 0 0 1 0 0 AMIGO2 347902 broad.mit.edu 37 12 47472525 47472525 + Nonsense_Mutation SNP C C T rs147425809 TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr12:47472525C>T ENST00000266581.4 - 2 727 c.261G>A c.(259-261)tgG>tgA p.W87* AMIGO2_ENST00000321382.3_Nonsense_Mutation_p.W87*|AMIGO2_ENST00000429635.1_Nonsense_Mutation_p.W87*|AMIGO2_ENST00000550413.1_Nonsense_Mutation_p.W87* NM_181847.4 NP_862830.1 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 87 heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Renal(347;0.138)|Lung SC(27;0.192) ATACTGGAATCCACTCAGAAT 0.438000 33 137 0 0 1 0 0 CNTN1 1272 broad.mit.edu 37 12 41316217 41316217 + Silent SNP C C A TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr12:41316217C>A ENST00000551295.2 + 5 504 c.387C>A c.(385-387)acC>acA p.T129T CNTN1_ENST00000547849.1_Silent_p.T129T|CNTN1_ENST00000348761.2_Silent_p.T118T|CNTN1_ENST00000547702.1_Silent_p.T129T|CNTN1_ENST00000360099.3_Silent_p.T129T|CNTN1_ENST00000347616.1_Silent_p.T129T NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 129 Ig-like C2-type 1. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) CTGAAGCAACCCTGAGCTTTG 0.398000 4 87 0.184627 0.18832 1 1 0 BTBD10 84280 broad.mit.edu 37 11 13443342 13443342 + Missense_Mutation SNP T T C TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr11:13443342T>C ENST00000278174.5 - 3 390 c.145A>G c.(145-147)Atg>Gtg p.M49V BTBD10_ENST00000530907.1_Missense_Mutation_p.M57V|BTBD10_ENST00000532261.1_5'UTR|BTBD10_ENST00000528120.1_Start_Codon_SNP_p.M1V NM_032320.5 NP_115696.2 Q9BSF8 BTBDA_HUMAN BTB (POZ) domain containing 10 49 nucleus cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1) 20 Epithelial(150;0.0214) TGTAGACTCATTTTGGTGTGG 0.408000 12 68 0 0 1 0 0 FKBP15 23307 broad.mit.edu 37 9 115962194 115962194 + Missense_Mutation SNP G G C TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr9:115962194G>C ENST00000238256.3 - 7 665 c.548C>G c.(547-549)tCc>tGc p.S183C NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 183 endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 GAGGTCCTGGGAGAGCACTGC 0.488000 12 34 0 0 1 0 0 UTP23 84294 broad.mit.edu 37 8 117783946 117783946 + Silent SNP T T A TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr8:117783946T>A ENST00000309822.2 + 3 716 c.615T>A c.(613-615)ctT>ctA p.L205L UTP23_ENST00000517820.1_Intron|UTP23_ENST00000357148.3_Intron|UTP23_ENST00000520733.1_Intron NM_032334.2 NP_115710.2 Q9BRU9 UTP23_HUMAN UTP23, small subunit (SSU) processome component, homolog (yeast) 205 rRNA processing nucleolus breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 12 CCAATCCTCTTAGTTGTTTGA 0.358000 21 90 0 0 1 0 0 MC5R 4161 broad.mit.edu 37 18 13826202 13826202 + Silent SNP C C T TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr18:13826202C>T ENST00000324750.3 + 1 660 c.438C>T c.(436-438)taC>taT p.Y146Y NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 146 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 CCATCTTCTACGCCCTGCGCT 0.557000 10 276 0 0 1 0 0 EBF4 57593 broad.mit.edu 37 20 2688616 2688616 + Silent SNP C C T TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr20:2688616C>T ENST00000380648.4 + 6 694 c.426C>T c.(424-426)gaC>gaT p.D142D EBF4_ENST00000342725.4_Silent_p.D146D NM_001110514.1 NP_001103984.1 Q9BQW3 COE4_HUMAN early B-cell factor 4 146 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding AGGGGCAGGACAAGAACCCCG 0.607000 7 17 0 0 1 0 0 CYP2D7P1 0 broad.mit.edu 37 22 42537218 42537218 + RNA SNP T T C rs2856959 by1000genomes TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr22:42537218T>C ENST00000435101.1 - 0 239 CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000433992.1_RNA endometrium(1) 1 TGGGTCACACTCAGGGGGATG 0.617000 5 23 0 0 1 0 0 PCDHB6 0 broad.mit.edu 37 5 140531282 140531282 + Missense_Mutation SNP G G A TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr5:140531282G>A ENST00000231136.1 + 1 1444 c.1444G>A c.(1444-1446)Gcc>Acc p.A482T PCDHB6_ENST00000543635.1_Missense_Mutation_p.A346T NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 482 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGCATCAACGCCCAGGTCAC 0.642000 14 529 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114299484 114299484 + Missense_Mutation SNP G G C TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr7:114299484G>C ENST00000408937.3 + 13 1991 c.1617G>C c.(1615-1617)agG>agC p.R539S FOXP2_ENST00000393494.2_Missense_Mutation_p.R514S|FOXP2_ENST00000393489.3_Missense_Mutation_p.R422S|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000350908.4_Missense_Mutation_p.R514S|FOXP2_ENST00000393498.2_Missense_Mutation_p.R493S|FOXP2_ENST00000393491.3_Intron|FOXP2_ENST00000403559.4_Missense_Mutation_p.R531S NM_001172766.2|NM_014491.3|NM_148898.3 NP_001166237.1|NP_055306.1|NP_683696.2 O15409 FOXP2_HUMAN forkhead box P2 514 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 CTCTCATAAGGCAGGTAAGTA 0.303000 27 98 0 0 1 0 0 GNA13 10672 broad.mit.edu 37 17 63049844 63049844 + Missense_Mutation SNP T T C TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr17:63049844T>C ENST00000439174.2 - 2 531 c.286A>G c.(286-288)Atg>Gtg p.M96V GNA13_ENST00000541118.1_Start_Codon_SNP_p.M1V NM_006572.4 NP_006563.2 Q14344 GNA13_HUMAN guanine nucleotide binding protein (G protein), alpha 13 96 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex|melanosome D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1) 34 AGCACCCTCATACCTTTGTTT 0.363000 26 104 0 0 1 0 0 DBH 1621 broad.mit.edu 37 9 136508616 136508616 + Missense_Mutation SNP G G A TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr9:136508616G>A ENST00000393056.2 + 4 838 c.826G>A c.(826-828)Gtc>Atc p.V276I NM_000787.3 NP_000778.3 P09172 DOPO_HUMAN dopamine beta-hydroxylase (dopamine beta-monooxygenase) 276 hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding p.V276I(1) central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) GATGGACAGCGTCCCCCACTT 0.657000 36 141 0 0 1 0 0 ANKS3 124401 broad.mit.edu 37 16 4780010 4780010 + Silent SNP C C T rs148767427 TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr16:4780010C>T ENST00000304283.4 - 3 435 c.141G>A c.(139-141)caG>caA p.Q47Q ANKS3_ENST00000592711.1_Silent_p.Q47Q|ANKS3_ENST00000585773.1_Intron|ANKS3_ENST00000450067.2_5'UTR|ANKS3_ENST00000446014.2_5'UTR NM_133450.3 NP_597707.1 Q6ZW76 ANKS3_HUMAN ankyrin repeat and sterile alpha motif domain containing 3 47 endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 19 CCACTTCATACTGGCCAATGG 0.577000 40 361 0 0 1 0 0 SLC1A6 6511 broad.mit.edu 37 19 15073138 15073138 + Missense_Mutation SNP G G A TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr19:15073138G>A ENST00000598504.1 - 8 1970 c.611C>T c.(610-612)aCg>aTg p.T204M SLC1A6_ENST00000544886.2_Missense_Mutation_p.T204M|SLC1A6_ENST00000221742.3_Missense_Mutation_p.T204M|SLC1A6_ENST00000430939.2_Missense_Mutation_p.T140M|SLC1A6_ENST00000600144.1_Missense_Mutation_p.T204M NM_001272087.1 NP_001259016.1 P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 204 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity p.T204M(1) breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) TACCACCCTCGTGCTGTACTG 0.532000 33 117 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52420237 52420237 + Missense_Mutation SNP A A G TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr3:52420237A>G ENST00000420323.2 + 55 8948 c.8687A>G c.(8686-8688)aAt>aGt p.N2896S NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2896 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ATCAAAGCCAATGAGAAGGCC 0.597000 9 54 0 0 1 0 0 ACLY 47 broad.mit.edu 37 17 40025296 40025296 + Splice_Site SNP C C A TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr17:40025296C>A ENST00000352035.2 - 27 3264 c.3134_splice c.e27+1 p.R1045_splice ACLY_ENST00000588779.1_5'UTR|ACLY_ENST00000590151.1_Splice_Site_p.R1045_splice|ACLY_ENST00000537919.1_Splice_Site_p.R774_splice|ACLY_ENST00000393896.2_Splice_Site_p.R1035_splice|ACLY_ENST00000353196.1_Splice_Site_p.R1035_splice NM_001096.2 NP_001087.2 P53396 ACLY_HUMAN ATP citrate lyase 1045 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity p.R1045L(1) NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) CAATGCTCACCGAGTAAAGGA 0.358000 5 485 1 1 1 1 0 PARS2 25973 broad.mit.edu 37 1 55224347 55224347 + Missense_Mutation SNP G G A TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr1:55224347G>A ENST00000371279.3 - 2 570 c.488C>T c.(487-489)aCg>aTg p.T163M NM_152268.3 NP_689481.2 Q7L3T8 SYPM_HUMAN prolyl-tRNA synthetase 2, mitochondrial (putative) 163 prolyl-tRNA aminoacylation mitochondrial matrix ATP binding|proline-tRNA ligase activity breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1) 15 L-Proline(DB00172) AATTAAGGCCGTAATGGCTTC 0.532000 5 388 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20952769 20952769 + Nonsense_Mutation SNP C C A TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr16:20952769C>A ENST00000261383.3 - 59 11607 c.11608G>T c.(11608-11610)Gaa>Taa p.E3870* DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3870 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TTCATGGATTCTTCATAGACC 0.488000 144 473 1.70343e-82 1.8099e-82 1 1 0 CRNN 49860 broad.mit.edu 37 1 152382519 152382519 + Missense_Mutation SNP T T C TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr1:152382519T>C ENST00000271835.3 - 3 1101 c.1039A>G c.(1039-1041)Act>Gct p.T347A RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 347 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGTATCTGAGTGTGTCCTCCT 0.592000 5 383 0 0 1 0 0 NCR2 9436 broad.mit.edu 37 6 41304075 41304075 + Frame_Shift_Del DEL G G - TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr6:41304075delG ENST00000373083.4 + 2 525 c.303delG c.(301-303)gafs p.E102fs NCR2_ENST00000373086.3_Frame_Shift_Del_p.E102fs|NCR2_ENST00000373089.5_Frame_Shift_Del_p.E102fs NM_001199510.1 NP_001186439.1 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 102 Ig-like. cellular defense response integral to plasma membrane transmembrane receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) ATCTGAGAGAGGAAGACTCAG 0.517 7 189 --- --- --- --- STAG3L4 0 broad.mit.edu 37 7 66772494 66772495 + RNA INS - - T rs113583073 TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr7:66772494_66772495insT ENST00000416602.2 + 0 362 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) TGCTTGATTCCTTTTTTTTTTT 0.426 2 4 --- --- --- --- CLDN23 137075 broad.mit.edu 37 8 8560665 8560665 + Frame_Shift_Del DEL C C - TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr8:8560665delC ENST00000519106.1 + 1 1218 c.757delC c.(757-759)ggfs p.R253fs NM_194284.2 NP_919260.2 Q96B33 CLD23_HUMAN claudin 23 253 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(2) 2 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238) GCCGCGGCCGCGGCCCAAGGC 0.706 3 6 --- --- --- --- ZNF503 84858 broad.mit.edu 37 10 77161101 77161106 + In_Frame_Del DEL CCGCCT CCGCCT - rs72126859 TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr10:77161101_77161106delCCGCCT ENST00000372524.4 - 1 558_563 c.72_77delAGGCGG c.(70-78)ggc>gg p.GGG24del ZNF503_ENST00000535216.1_In_Frame_Del_p.GGG24del NM_032772.4 NP_116161.2 Q96F45 ZN503_HUMAN zinc finger protein 503 24 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding lung(4)|ovary(1)|skin(1) 6 all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088) GTCTGCAccgccgcctccgcctccgc 0.718 3 5 --- --- --- --- FLT1 2321 broad.mit.edu 37 13 28919605 28919605 + Frame_Shift_Del DEL G G - TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr13:28919605delG ENST00000282397.4 - 16 2583 c.2332delC c.(2332-2334)tcfs p.L778fs FLT1_ENST00000540678.1_5'UTR NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 778 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) CGGATAAAGAGGGTTAATAGG 0.413 12 29 --- --- --- --- RP11-305P22.9 0 broad.mit.edu 37 20 61680623 61680625 + RNA DEL TCC TCC - TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr20:61680623_61680625delTCC ENST00000607802.1 + 0 91 RP11-305P22.5_ENST00000455711.1_lincRNA NR_033370.1 ctcctcctcttcctcctcctcct 0.606 2 4 --- --- --- --- RP13-228J13.1 0 broad.mit.edu 37 X 154578864 154578865 + RNA DEL TG TG - rs150846040 by1000genomes TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chrX:154578864_154578865delTG ENST00000412436.1 - 0 98 RP13-228J13.5_ENST00000453508.1_RNA|RP13-228J13.1_ENST00000444722.1_RNA GTTTTCTCTCTGTTTTTTTTTT 0.416 4 4 --- --- --- ---