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 NUP210L 91181 broad.mit.edu 37 1 154067630 154067630 + Silent SNP A A T TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr1:154067630A>T ENST00000368559.3 - 15 2039 c.1968T>A c.(1966-1968)gcT>gcA p.A656A NUP210L_ENST00000271854.3_Silent_p.A656A NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 656 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CAGGATTTAAAGCCTGATGAT 0.393 16 26 --- --- --- --- MAPKAPK2 9261 broad.mit.edu 37 1 206858781 206858781 + Silent SNP C C G TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr1:206858781C>G ENST00000367103.3 + 1 400 c.207C>G c.(205-207)gtC>gtG p.V69V MAPKAPK2_ENST00000294981.4_Silent_p.V69V NM_004759.4|NM_032960.3 NP_004750.1|NP_116584.2 P49137 MAPK2_HUMAN mitogen-activated protein kinase-activated protein kinase 2 69 Protein kinase. activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 19 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.211) CCAGCCAGGTCCTGGGGCTGG 0.607 27 26 --- --- --- --- FCAMR 83953 broad.mit.edu 37 1 207133070 207133070 + Missense_Mutation SNP A A G TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr1:207133070A>G ENST00000400962.3 - 7 1141 c.725T>C c.(724-726)tTa>tCa p.L242S FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000324852.4_Silent_p.L509L|FCAMR_ENST00000450945.2_Missense_Mutation_p.L242S NM_001122979.2|NM_032029.4 NP_001116451.1|NP_114418.2 Q8WWV6 FCAMR_HUMAN Fc receptor, IgA, IgM, high affinity 383 integral to membrane|plasma membrane receptor activity endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1) 11 CCAGAGCCATAAGCATAAACA 0.522 105 107 --- --- --- --- ENAH 55740 broad.mit.edu 37 1 225699534 225699534 + Missense_Mutation SNP C C A TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr1:225699534C>A ENST00000366844.3 - 10 1901 c.1450G>T c.(1450-1452)Gcc>Tcc p.A484S ENAH_ENST00000284563.6_Missense_Mutation_p.A731S|ENAH_ENST00000366843.2_Missense_Mutation_p.A484S NM_001008493.1|NM_018212.4 NP_001008493.1|NP_060682.2 Q8N8S7 ENAH_HUMAN enabled homolog (Drosophila) EVH2. axon guidance|intracellular transport|T cell receptor signaling pathway cytosol|filopodium|focal adhesion|lamellipodium|synapse actin binding|SH3 domain binding|WW domain binding NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Breast(184;0.206) GBM - Glioblastoma multiforme(131;0.19) GTTGAAGAGGCCTTAGAAGTT 0.323 5 17 --- --- --- --- NRBP1 29959 broad.mit.edu 37 2 27662756 27662756 + Missense_Mutation SNP G G C TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr2:27662756G>C ENST00000233557.3 + 12 1859 c.1027G>C c.(1027-1029)Gga>Cga p.G343R NRBP1_ENST00000379863.3_Missense_Mutation_p.G351R|NRBP1_ENST00000379852.3_Missense_Mutation_p.G343R Q9UHY1 NRBP_HUMAN nuclear receptor binding protein 1 343 ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm ATP binding|protein homodimerization activity|protein kinase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 Acute lymphoblastic leukemia(172;0.155) CTGCATTGTGGGACACCAACG 0.517 4 86 --- --- --- --- LIPT1 51601 broad.mit.edu 37 2 99779276 99779276 + Missense_Mutation SNP C C T TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr2:99779276C>T ENST00000393477.3 + 4 1208 c.856C>T c.(856-858)Cat>Tat p.H286Y LIPT1_ENST00000393473.2_Missense_Mutation_p.H286Y|LIPT1_ENST00000340066.1_Missense_Mutation_p.H286Y|LIPT1_ENST00000393471.2_Missense_Mutation_p.H286Y|MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000393474.3_Missense_Mutation_p.H286Y NM_145197.2 NP_660198.1 Q9Y234 LIPT_HUMAN lipoyltransferase 1 286 lipid metabolic process|protein lipoylation mitochondrion acyltransferase activity large_intestine(6)|lung(1) 7 Lipoic Acid(DB00166) TACTTCCTTTCATGTGTTATA 0.328 5 36 --- --- --- --- GLI2 2736 broad.mit.edu 37 2 121748220 121748220 + Missense_Mutation SNP A A T TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr2:121748220A>T ENST00000452319.1 + 14 4790 c.4730A>T c.(4729-4731)gAg>gTg p.E1577V GLI2_ENST00000361492.4_Missense_Mutation_p.E1577V P10070 GLI2_HUMAN GLI family zinc finger 2 1577 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) AGCCTCGCCGAGGAGAGCAAG 0.637 25 48 --- --- --- --- NEB 4703 broad.mit.edu 37 2 152486104 152486104 + Missense_Mutation SNP A A T TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr2:152486104A>T ENST00000427231.2 - 68 9982 c.9780T>A c.(9778-9780)agT>agA p.S3260R NEB_ENST00000172853.10_Missense_Mutation_p.S3017R|NEB_ENST00000604864.1_Missense_Mutation_p.S3260R|NEB_ENST00000397345.3_Missense_Mutation_p.S3260R|NEB_ENST00000409198.1_Missense_Mutation_p.S3017R|NEB_ENST00000603639.1_Missense_Mutation_p.S3260R NM_001164507.1|NM_001271208.1 NP_001157979|NP_001258137.1 P20929 NEBU_HUMAN nebulin 3260 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GGATGGCGTCACTTCGCAAGT 0.453 19 54 --- --- --- --- CCDC148 130940 broad.mit.edu 37 2 159166039 159166039 + Missense_Mutation SNP G G T TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr2:159166039G>T ENST00000283233.5 - 9 1329 c.1016C>A c.(1015-1017)aCa>aAa p.T339K CCDC148_ENST00000536771.1_Missense_Mutation_p.T253K|CCDC148_ENST00000409187.1_Missense_Mutation_p.T348K NM_138803.3 NP_620158.3 Q8NFR7 CC148_HUMAN coiled-coil domain containing 148 339 endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 CTCAGTGAGTGTCAGCACAGC 0.383 17 20 --- --- --- --- BAZ2B 29994 broad.mit.edu 37 2 160181377 160181377 + Missense_Mutation SNP C C T TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr2:160181377C>T ENST00000392783.2 - 36 6793 c.6298G>A c.(6298-6300)Gtt>Att p.V2100I BAZ2B_ENST00000355831.2_Missense_Mutation_p.V2066I|BAZ2B_ENST00000343439.5_Missense_Mutation_p.V2000I|BAZ2B_ENST00000392782.1_Missense_Mutation_p.V2064I NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 2100 Bromo. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 TTCTTAATAACTTTCTTATAA 0.318 20 22 --- --- --- --- GALNT3 2591 broad.mit.edu 37 2 166621453 166621453 + Missense_Mutation SNP T T G TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr2:166621453T>G ENST00000392701.3 - 3 1404 c.629A>C c.(628-630)tAt>tCt p.Y210S NM_004482.3 NP_004473.2 Q14435 GALT3_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) 210 Catalytic subdomain A. protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1) 20 AGGTGAAGAATAGAGCACACT 0.428 31 62 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179428723 179428723 + Missense_Mutation SNP A A C TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr2:179428723A>C ENST00000589042.1 - 326 82360 c.82136T>G c.(82135-82137)gTt>gGt p.V27379G TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V25738G|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V18439G|TTN_ENST00000460472.2_Missense_Mutation_p.V18314G|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V18506G|TTN_ENST00000342992.6_Missense_Mutation_p.V24811G|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25738 Fibronectin type-III 99. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AACTCCAGTAACTTTCAGAGG 0.438 20 73 --- --- --- --- DNAH7 56171 broad.mit.edu 37 2 196756423 196756423 + Missense_Mutation SNP C C A TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr2:196756423C>A ENST00000312428.6 - 31 5102 c.5002G>T c.(5002-5004)Gat>Tat p.D1668Y NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1668 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AGGACCCCATCAGACCATTCA 0.378 4 43 --- --- --- --- LRRC3B 116135 broad.mit.edu 37 3 26751671 26751671 + Missense_Mutation SNP G G C TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr3:26751671G>C ENST00000396641.2 + 2 1100 c.508G>C c.(508-510)Gtg>Ctg p.V170L LRRC3B_ENST00000417744.1_Missense_Mutation_p.V170L|LRRC3B_ENST00000456208.2_Missense_Mutation_p.V170L NM_052953.2 NP_443185.1 Q96PB8 LRC3B_HUMAN leucine rich repeat containing 3B 170 LRRCT. integral to membrane p.V170M(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 21 AGCCCACAACGTGATCTGTAA 0.517 7 20 --- --- --- --- CACNA2D3 55799 broad.mit.edu 37 3 54919587 54919587 + Missense_Mutation SNP T T A TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr3:54919587T>A ENST00000474759.1 + 23 2078 c.2030T>A c.(2029-2031)cTa>cAa p.L677Q CACNA2D3_ENST00000288197.5_Missense_Mutation_p.L677Q|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.L677Q|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.L583Q NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 677 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) AAGCTCTACCTAAAAGGCAAA 0.473 10 12 --- --- --- --- CAMK2N2 94032 broad.mit.edu 37 3 183979033 183979033 + Missense_Mutation SNP C C A TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr3:183979033C>A ENST00000296238.3 - 1 218 c.41G>T c.(40-42)cGc>cTc p.R14L EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000402825.3_Intron NM_033259.2 NP_150284.1 Q96S95 CK2N2_HUMAN calcium/calmodulin-dependent protein kinase II inhibitor 2 14 cytosol|nucleus protein kinase inhibitor activity all_cancers(143;1.09e-10)|Ovarian(172;0.0339) Epithelial(37;2.51e-33)|OV - Ovarian serous cystadenocarcinoma(80;5.69e-22) TGCGCCGAAGCGGCCCATCTT 0.736 3 23 --- --- --- --- GP5 2814 broad.mit.edu 37 3 194117793 194117793 + Missense_Mutation SNP A A C TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr3:194117793A>C ENST00000401815.1 - 1 1290 c.1219T>G c.(1219-1221)Ttt>Gtt p.F407V GP5_ENST00000323007.3_Missense_Mutation_p.F407V P40197 GPV_HUMAN glycoprotein V (platelet) 407 blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 35 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) AGAGCCCCAAACACGTCGCCA 0.697 4 7 --- --- --- --- TACR3 6870 broad.mit.edu 37 4 104577479 104577479 + Silent SNP G G A TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr4:104577479G>A ENST00000304883.2 - 3 900 c.760C>T c.(760-762)Ctg>Ttg p.L254L NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 254 integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) CAGTACACCAGTATAATGACG 0.378 24 46 --- --- --- --- IL21 59067 broad.mit.edu 37 4 123534028 123534028 + Missense_Mutation SNP C C T TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr4:123534028C>T ENST00000264497.3 - 4 473 c.416G>A c.(415-417)aGa>aAa p.R139K NM_001207006.2|NM_021803.3 NP_001193935.1|NP_068575.1 Q9HBE4 IL21_HUMAN interleukin 21 132 cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction extracellular space cytokine activity|interleukin-2 receptor binding NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3) 8 TGATTTGAATCTTTCTAGGAA 0.313 11 12 --- --- --- --- KLHL2 11275 broad.mit.edu 37 4 166238998 166238998 + Missense_Mutation SNP C C G TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr4:166238998C>G ENST00000226725.6 + 14 1889 c.1630C>G c.(1630-1632)Ctg>Gtg p.L544V KLHL2_ENST00000538127.1_Missense_Mutation_p.L456V|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000506761.1_Missense_Mutation_p.L378V|KLHL2_ENST00000421009.2_Missense_Mutation_p.L447V|KLHL2_ENST00000514860.1_Missense_Mutation_p.L548V NM_007246.3 NP_009177.3 O95198 KLHL2_HUMAN kelch-like family member 2 544 intracellular protein transport actin cytoskeleton|cytoplasm actin binding|transporter activity endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1) 14 all_hematologic(180;0.221) GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927) AGTTAATGGTCTGTTATATGT 0.348 4 82 --- --- --- --- IQGAP2 10788 broad.mit.edu 37 5 76003079 76003079 + Missense_Mutation SNP G G C TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr5:76003079G>C ENST00000274364.6 + 36 4966 c.4669G>C c.(4669-4671)Gtt>Ctt p.V1557L IQGAP2_ENST00000502745.1_Missense_Mutation_p.V1053L|IQGAP2_ENST00000396234.3_Missense_Mutation_p.V1053L|IQGAP2_ENST00000508410.1_3'UTR|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000379730.3_Missense_Mutation_p.V1059L NM_006633.2 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 1557 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) GTTTGATAAGGTTAAAGTGAA 0.323 13 23 --- --- --- --- CYFIP2 26999 broad.mit.edu 37 5 156734848 156734848 + Missense_Mutation SNP T T G TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr5:156734848T>G ENST00000347377.6 + 9 1306 c.875T>G c.(874-876)cTt>cGt p.L292R CYFIP2_ENST00000541131.1_Missense_Mutation_p.L217R|CYFIP2_ENST00000522463.1_Missense_Mutation_p.L96R|CYFIP2_ENST00000377576.3_Missense_Mutation_p.L292R|CYFIP2_ENST00000318218.6_Missense_Mutation_p.L292R|CYFIP2_ENST00000521420.1_Missense_Mutation_p.L266R|CYFIP2_ENST00000442283.2_5'UTR NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 292 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGAATTAATCTTAGCAAAATT 0.463 3 11 --- --- --- --- CDYL 9425 broad.mit.edu 37 6 4935754 4935754 + Missense_Mutation SNP T T C TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr6:4935754T>C ENST00000328908.5 + 5 990 c.859T>C c.(859-861)Tct>Cct p.S287P CDYL_ENST00000343762.5_Missense_Mutation_p.S101P|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000397588.3_Missense_Mutation_p.S233P|CDYL_ENST00000449732.2_Missense_Mutation_p.S101P Q9Y232 CDYL1_HUMAN chromodomain protein, Y-like 287 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus histone acetyltransferase activity breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1) 30 Ovarian(93;0.11) all_hematologic(90;0.0901)|Lung NSC(90;0.244) OV - Ovarian serous cystadenocarcinoma(45;0.182) GGCAGGTACATCTCCGTTCAT 0.438 19 58 --- --- --- --- DSP 1832 broad.mit.edu 37 6 7583503 7583503 + Missense_Mutation SNP A A G TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr6:7583503A>G ENST00000379802.3 + 24 6349 c.6008A>G c.(6007-6009)gAa>gGa p.E2003G DSP_ENST00000418664.2_Missense_Mutation_p.E1404G NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2003 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TCAGTGGAAGAAGTTGCTTCT 0.478 25 36 --- --- --- --- EPHA7 2045 broad.mit.edu 37 6 93953242 93953242 + Missense_Mutation SNP C C T TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr6:93953242C>T ENST00000369303.4 - 17 3083 c.2899G>A c.(2899-2901)Ggg>Agg p.G967R NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 967 SAM. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) AGTGTGATCCCTAAACTCATC 0.353 8 67 --- --- --- --- STEAP1B 256227 broad.mit.edu 37 7 22533125 22533125 + Missense_Mutation SNP C C T TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr7:22533125C>T ENST00000404369.4 - 3 830 c.415G>A c.(415-417)Gtc>Atc p.V139I STEAP1B_ENST00000406890.2_Missense_Mutation_p.V120I NM_001164460.1 NP_001157932.1 Q6NZ63 STEAL_HUMAN STEAP family member 1B 120 integral to membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity endometrium(1)|kidney(1)|lung(2) 4 TGAACTTGGACAATTGCTGCT 0.383 5 64 --- --- --- --- FAM188B 84182 broad.mit.edu 37 7 30821758 30821758 + Missense_Mutation SNP G G C TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr7:30821758G>C ENST00000265299.6 + 3 426 c.349G>C c.(349-351)Gta>Cta p.V117L INMT-FAM188B_ENST00000458257.1_3'UTR NM_032222.2 NP_115598.2 Q4G0A6 F188B_HUMAN family with sequence similarity 188, member B 117 endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GACTACACTGGTAAATATATA 0.373 19 48 --- --- --- --- CHD7 55636 broad.mit.edu 37 8 61734470 61734470 + Missense_Mutation SNP C C T TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr8:61734470C>T ENST00000423902.2 + 10 3298 c.2819C>T c.(2818-2820)cCg>cTg p.P940L CHD7_ENST00000525508.1_Missense_Mutation_p.P940L|CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 940 Chromo 2. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TCCAGGGAGCCGGAAACAGAG 0.443 6 14 --- --- --- --- KCNV1 27012 broad.mit.edu 37 8 110980473 110980473 + Missense_Mutation SNP T T A TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr8:110980473T>A ENST00000524391.1 - 4 2379 c.1347A>T c.(1345-1347)gaA>gaT p.E449D KCNV1_ENST00000297404.1_Missense_Mutation_p.E449D Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 449 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) TCTTTAGGGCTTCACGCTGTC 0.438 13 69 --- --- --- --- FAM83A 84985 broad.mit.edu 37 8 124195408 124195408 + Silent SNP C C A TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr8:124195408C>A ENST00000518448.1 + 2 2326 c.312C>A c.(310-312)acC>acA p.T104T FAM83A_ENST00000546351.1_Silent_p.T104T|FAM83A_ENST00000522648.1_Silent_p.T104T|FAM83A_ENST00000276699.6_Silent_p.T104T|FAM83A_ENST00000536633.1_Silent_p.T104T|FAM83A_ENST00000318462.6_Silent_p.T104T Q86UY5 FA83A_HUMAN family with sequence similarity 83, member A 104 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1) 17 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) AGTCCGGCACCTACTTCCCTG 0.662 33 130 --- --- --- --- OC90 729330 broad.mit.edu 37 8 133036907 133036907 + Missense_Mutation SNP G G T TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr8:133036907G>T ENST00000262283.5 - 18 1990 c.1891C>A c.(1891-1893)Cct>Act p.P631T OC90_ENST00000603859.1_Missense_Mutation_p.P419T|OC90_ENST00000254627.3_Missense_Mutation_p.P419T|OC90_ENST00000443356.2_Missense_Mutation_p.P435T Q02509 OC90_HUMAN otoconin 90 435 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) GGCTGCCCAGGGCACCCGAGT 0.632 13 27 --- --- --- --- BNC2 54796 broad.mit.edu 37 9 16419581 16419581 + Missense_Mutation SNP G G C TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr9:16419581G>C ENST00000380672.4 - 7 2763 c.2706C>G c.(2704-2706)gaC>gaG p.D902E BNC2_ENST00000380667.2_Missense_Mutation_p.D835E|BNC2_ENST00000545497.1_Missense_Mutation_p.D807E NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 902 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) GCTGCGACGAGTCCAGGCCCA 0.532 36 61 --- --- --- --- RPP25L 138716 broad.mit.edu 37 9 34611074 34611074 + Missense_Mutation SNP C C G TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr9:34611074C>G ENST00000297613.4 - 2 500 c.220G>C c.(220-222)Gtc>Ctc p.V74L RPP25L_ENST00000378959.4_Missense_Mutation_p.V74L NM_148179.2 NP_680545.1 Q8N5L8 CI023_HUMAN ribonuclease P/MRP 25kDa subunit-like 74 nucleic acid binding p.V74I(1) CGCCGCTTGACAATCTCAGCG 0.627 8 48 --- --- --- --- UNC13B 10497 broad.mit.edu 37 9 35382355 35382355 + Splice_Site SNP C C G TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr9:35382355C>G ENST00000378495.3 + 20 2632 c.2410C>G c.(2410-2412)Cac>Gac p.H804D UNC13B_ENST00000396787.1_Splice_Site_p.H816D|UNC13B_ENST00000378496.4_Splice_Site_p.H804D NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 804 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) GTTTTTCAGGCACTTTGCATG 0.488 19 54 --- --- --- --- FRMPD1 22844 broad.mit.edu 37 9 37740677 37740677 + Missense_Mutation SNP T T A TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr9:37740677T>A ENST00000539465.1 + 15 2745 c.2152T>A c.(2152-2154)Tac>Aac p.Y718N FRMPD1_ENST00000377765.3_Missense_Mutation_p.Y718N|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Missense_Mutation_p.Y587N|FRMPD1_ENST00000536622.1_Missense_Mutation_p.Y540N Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 718 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) CCCGGCCAGCTACCTGAGTGA 0.637 16 17 --- --- --- --- GRIN3A 116443 broad.mit.edu 37 9 104432660 104432660 + Nonsense_Mutation SNP C C T TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr9:104432660C>T ENST00000361820.3 - 3 2634 c.2034G>A c.(2032-2034)tgG>tgA p.W678* NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 678 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) AAATCCCCAGCCACATTGTCC 0.522 34 108 --- --- --- --- PSMD5 5711 broad.mit.edu 37 9 123586854 123586854 + Missense_Mutation SNP G G C TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr9:123586854G>C ENST00000210313.3 - 7 998 c.924C>G c.(922-924)gaC>gaG p.D308E PSMD5_ENST00000373904.5_Missense_Mutation_p.D265E NM_001270427.1|NM_005047.3 NP_001257356.1|NP_005038.1 Q16401 PSMD5_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 5 308 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1) 10 TCATAGTGGGGTCCTGACTTT 0.418 8 112 --- --- --- --- PPP2R4 5524 broad.mit.edu 37 9 131885404 131885404 + Missense_Mutation SNP A A G TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr9:131885404A>G ENST00000337738.1 + 3 470 c.203A>G c.(202-204)tAc>tGc p.Y68C PPP2R4_ENST00000357197.4_Intron|PPP2R4_ENST00000358994.4_Missense_Mutation_p.Y68C|PPP2R4_ENST00000347048.4_Intron|PPP2R4_ENST00000348141.5_Missense_Mutation_p.Y74C|PPP2R4_ENST00000355007.3_Missense_Mutation_p.Y68C|PPP2R4_ENST00000452489.2_Missense_Mutation_p.Y68C|PPP2R4_ENST00000393370.2_Missense_Mutation_p.Y68C NM_178001.2 NP_821068.1 Q15257 PTPA_HUMAN protein phosphatase 2A activator, regulatory subunit 4 68 ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 12 Medulloblastoma(224;0.235) UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) ACCTTCGAGTACAGAGTCTCC 0.532 4 168 --- --- --- --- TACC2 10579 broad.mit.edu 37 10 123970866 123970866 + Missense_Mutation SNP A A T TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr10:123970866A>T ENST00000369005.1 + 9 7266 c.6926A>T c.(6925-6927)gAg>gTg p.E2309V TACC2_ENST00000515273.1_Missense_Mutation_p.E2313V|TACC2_ENST00000369001.1_Missense_Mutation_p.E13V|TACC2_ENST00000358010.1_Missense_Mutation_p.E455V|TACC2_ENST00000260733.3_Missense_Mutation_p.E387V|TACC2_ENST00000453444.2_Missense_Mutation_p.E2313V|TACC2_ENST00000369004.3_Missense_Mutation_p.E387V|TACC2_ENST00000513429.1_Missense_Mutation_p.E455V|TACC2_ENST00000360561.3_Missense_Mutation_p.E387V|TACC2_ENST00000369000.1_Missense_Mutation_p.E13V|TACC2_ENST00000334433.3_Missense_Mutation_p.E2309V|TACC2_ENST00000515603.1_Missense_Mutation_p.E2264V|TACC2_ENST00000368999.1_Missense_Mutation_p.E387V NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2309 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) AAGACACCCGAGAAACTTGAC 0.493 40 74 --- --- --- --- ADAM12 8038 broad.mit.edu 37 10 127730776 127730776 + Silent SNP G G A TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr10:127730776G>A ENST00000368676.4 - 19 2451 c.2142C>T c.(2140-2142)aaC>aaT p.N714N ADAM12_ENST00000368679.4_Intron NM_021641.3 NP_067673.2 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 0 cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) CGCGCTCCCTGTTGGACTCTG 0.562 5 41 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 13984532 13984532 + RNA SNP G G C TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr11:13984532G>C ENST00000310358.7 + 0 619 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) CCGCGGCGCTGGCCTTCTCCG 0.706 6 14 --- --- --- --- MRGPRX1 259249 broad.mit.edu 37 11 18955439 18955439 + Missense_Mutation SNP G G A TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr11:18955439G>A ENST00000302797.3 - 1 1117 c.893C>T c.(892-894)gCg>gTg p.A298V NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 298 AS -> TP (in Ref. 2; AAL86880). acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 CACCTCAGACGCGTCCTGCAG 0.562 21 36 --- --- --- --- LRP4 4038 broad.mit.edu 37 11 46917845 46917845 + Missense_Mutation SNP C C G TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr11:46917845C>G ENST00000378623.1 - 9 1206 c.964G>C c.(964-966)Ggg>Cgg p.G322R NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 322 LDL-receptor class A 8. endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) ATGCAGCGCCCATTCCAACAC 0.577 33 67 --- --- --- --- LRMP 4033 broad.mit.edu 37 12 25260815 25260815 + Missense_Mutation SNP C C T TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr12:25260815C>T ENST00000354454.3 + 21 2150 c.1321C>T c.(1321-1323)Ctc>Ttc p.L441F LRMP_ENST00000548766.1_Missense_Mutation_p.L441F|LRMP_ENST00000547044.1_Missense_Mutation_p.L441F NM_006152.3 NP_006143.2 Q12912 LRMP_HUMAN lymphoid-restricted membrane protein 497 vesicle fusion|vesicle targeting endoplasmic reticulum membrane|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11) TAATAAGGCCCTCTGGCTCTC 0.438 19 71 --- --- --- --- PLXNC1 10154 broad.mit.edu 37 12 94637768 94637768 + Missense_Mutation SNP A A T TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr12:94637768A>T ENST00000258526.4 + 12 2604 c.2355A>T c.(2353-2355)ttA>ttT p.L785F NM_005761.2 NP_005752.1 O60486 PLXC1_HUMAN plexin C1 785 axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TTGACAACTTAATCATTTCAC 0.328 18 24 --- --- --- --- IQCD 115811 broad.mit.edu 37 12 113645503 113645503 + Missense_Mutation SNP T T C TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr12:113645503T>C ENST00000546692.1 - 2 842 c.469A>G c.(469-471)Aga>Gga p.R157G IQCD_ENST00000299732.2_Missense_Mutation_p.R157G|IQCD_ENST00000416617.2_Missense_Mutation_p.R157G Q96DY2 IQCD_HUMAN IQ motif containing D 157 endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 AGCAAGAGTCTAAGGACGTTC 0.527 12 131 --- --- --- --- NOS1 4842 broad.mit.edu 37 12 117660556 117660556 + Silent SNP C C T TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr12:117660556C>T ENST00000317775.6 - 26 4624 c.3939G>A c.(3937-3939)ctG>ctA p.L1313L NOS1_ENST00000338101.4_Silent_p.L1347L|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 1313 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) AAGCCGTGTACAGCTCTCTGA 0.577 8 189 --- --- --- --- GPR133 283383 broad.mit.edu 37 12 131490521 131490521 + Missense_Mutation SNP G G C TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr12:131490521G>C ENST00000261654.5 + 12 1819 c.1260G>C c.(1258-1260)tgG>tgC p.W420C GPR133_ENST00000376682.4_Missense_Mutation_p.W106C|GPR133_ENST00000535015.1_Missense_Mutation_p.W452C NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 420 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) CTGCAGCCTGGAGCACCGTCG 0.642 14 30 --- --- --- --- ANKLE2 23141 broad.mit.edu 37 12 133324779 133324779 + Missense_Mutation SNP A A G TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr12:133324779A>G ENST00000539605.1 - 3 7484 c.800T>C c.(799-801)aTc>aCc p.I267T ANKLE2_ENST00000357997.5_Missense_Mutation_p.I329T|ANKLE2_ENST00000337516.5_Missense_Mutation_p.I329T Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 329 cytoplasm|integral to membrane|nuclear envelope NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2) 45 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) GTTGCTCCAGATAAGGTCAGA 0.597 8 29 --- --- --- --- CDH24 64403 broad.mit.edu 37 14 23522821 23522821 + Silent SNP C C T TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr14:23522821C>T ENST00000397359.3 - 7 1369 c.1110G>A c.(1108-1110)gaG>gaA p.E370E CDH24_ENST00000267383.5_Silent_p.E370E|CDH24_ENST00000554034.1_Silent_p.E370E|CDH24_ENST00000487137.2_Silent_p.E370E NM_022478.3 NP_071923.2 Q86UP0 CAD24_HUMAN cadherin 24, type 2 370 Cadherin 3. adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) AGGCAGGTGGCTCTGGGGCAT 0.647 28 57 --- --- --- --- VRTN 55237 broad.mit.edu 37 14 74823853 74823853 + Missense_Mutation SNP A A T TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr14:74823853A>T ENST00000256362.4 + 2 608 c.367A>T c.(367-369)Atg>Ttg p.M123L NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 123 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 CCTCCAGGGCATGATCGACTC 0.642 4 42 --- --- --- --- BTBD7 55727 broad.mit.edu 37 14 93709033 93709033 + Silent SNP A A T TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr14:93709033A>T ENST00000334746.5 - 11 3292 c.2985T>A c.(2983-2985)ggT>ggA p.G995G BTBD7_ENST00000554565.1_Silent_p.G644G|BTBD7_ENST00000393170.2_Silent_p.G569G NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 995 breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) GAGACGTCTGACCAGGTAGGT 0.498 9 119 --- --- --- --- UNC13C 440279 broad.mit.edu 37 15 54792334 54792334 + Silent SNP A A G TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr15:54792334A>G ENST00000545554.1 + 20 5118 c.5118A>G c.(5116-5118)gaA>gaG p.E1706E UNC13C_ENST00000260323.11_Silent_p.E1706E|UNC13C_ENST00000537900.1_Silent_p.E1704E Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1706 MHD1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TGTCAATGGAATTCCTTCATG 0.348 14 16 --- --- --- --- ZWILCH 55055 broad.mit.edu 37 15 66821854 66821854 + Silent SNP G G A TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr15:66821854G>A ENST00000307897.5 + 12 1478 c.1098G>A c.(1096-1098)ttG>ttA p.L366L ZWILCH_ENST00000565627.1_Silent_p.L252L|ZWILCH_ENST00000535141.2_Silent_p.L252L|ZWILCH_ENST00000446801.2_Silent_p.L252L NM_017975.3 NP_060445.3 Q9H900 ZWILC_HUMAN zwilch kinetochore protein 366 cell division|mitotic cell cycle checkpoint|mitotic prometaphase condensed chromosome kinetochore|cytosol protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1) 18 ACCAAGACTTGGTGAAGTGTT 0.368 20 39 --- --- --- --- SNX33 257364 broad.mit.edu 37 15 75941791 75941791 + Silent SNP C C T TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr15:75941791C>T ENST00000308527.5 + 1 1545 c.348C>T c.(346-348)gaC>gaT p.D116D NM_153271.1 NP_695003.1 Q8WV41 SNX33_HUMAN sorting nexin 33 116 Poly-Asp. cell communication phosphatidylinositol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 19 ATGATGATGACTGGGATGACT 0.622 4 127 --- --- --- --- KIAA0430 9665 broad.mit.edu 37 16 15729800 15729800 + Missense_Mutation SNP C C G TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr16:15729800C>G ENST00000396368.3 - 3 750 c.544G>C c.(544-546)Gag>Cag p.E182Q KIAA0430_ENST00000344181.3_Missense_Mutation_p.E4Q|KIAA0430_ENST00000551742.1_Missense_Mutation_p.E182Q|KIAA0430_ENST00000540441.2_Missense_Mutation_p.E182Q|KIAA0430_ENST00000602337.1_Missense_Mutation_p.E182Q|KIAA0430_ENST00000548025.1_Missense_Mutation_p.E182Q NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 181 peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 AGGTTACTCTCTAGACACATG 0.488 22 79 --- --- --- --- CHD9 80205 broad.mit.edu 37 16 53190625 53190625 + Silent SNP C C T TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr16:53190625C>T ENST00000566029.1 + 2 833 c.624C>T c.(622-624)gtC>gtT p.V208V CHD9_ENST00000398510.3_Silent_p.V208V|CHD9_ENST00000564845.1_Silent_p.V208V|CHD9_ENST00000447540.1_Silent_p.V208V Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 208 V -> A (in Ref. 3; AAT66509). cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) CACATAGAGTCAATGTTAACC 0.388 45 93 --- --- --- --- KIFC3 3801 broad.mit.edu 37 16 57803814 57803814 + Missense_Mutation SNP C C A TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr16:57803814C>A ENST00000379655.4 - 8 1250 c.993G>T c.(991-993)gaG>gaT p.E331D KIFC3_ENST00000540079.2_Missense_Mutation_p.E229D|KIFC3_ENST00000445690.2_Missense_Mutation_p.E331D|KIFC3_ENST00000562903.1_Missense_Mutation_p.E192D|KIFC3_ENST00000541240.1_Missense_Mutation_p.E353D|KIFC3_ENST00000421376.2_Missense_Mutation_p.E192D|KIFC3_ENST00000543930.1_Missense_Mutation_p.E192D|KIFC3_ENST00000465878.2_Missense_Mutation_p.E192D|KIFC3_ENST00000539578.1_Missense_Mutation_p.E273D NM_005550.3 NP_005541.3 Q9BVG8 KIFC3_HUMAN kinesin family member C3 331 epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens ATP binding|microtubule motor activity breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(199;0.224) GGGACTGCATCTCCTCCAGCA 0.597 6 35 --- --- --- --- RABEP1 9135 broad.mit.edu 37 17 5266210 5266210 + Missense_Mutation SNP C C T TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr17:5266210C>T ENST00000262477.6 + 10 1791 c.1567C>T c.(1567-1569)Cat>Tat p.H523Y RABEP1_ENST00000546142.2_Missense_Mutation_p.H523Y|RABEP1_ENST00000408982.2_Missense_Mutation_p.H523Y|RABEP1_ENST00000537505.1_Missense_Mutation_p.H480Y|RABEP1_ENST00000341923.6_Missense_Mutation_p.H523Y|NUP88_ENST00000573169.1_Intron NM_004703.4 NP_004694.2 Q15276 RABE1_HUMAN rabaptin, RAB GTPase binding effector protein 1 523 apoptosis|cellular membrane fusion|endocytosis|protein transport centrosome|early endosome|endocytic vesicle|recycling endosome growth factor activity|GTPase activator activity|protein homodimerization activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 8 CCTTCAGGTACATAATGCTGG 0.398 11 25 --- --- --- --- ELP5 23587 broad.mit.edu 37 17 7160288 7160288 + Silent SNP G G A rs145471666 TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr17:7160288G>A ENST00000574993.1 + 5 787 c.570G>A c.(568-570)ctG>ctA p.L190L ELP5_ENST00000354429.2_Silent_p.L190L|ELP5_ENST00000396628.2_Silent_p.L190L|ELP5_ENST00000356683.2_Silent_p.L190L|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000396627.2_Silent_p.L190L elongator acetyltransferase complex subunit 5 AGGTGACCCTGGGCGGTACCA 0.607 3 30 --- --- --- --- FBXW10 10517 broad.mit.edu 37 17 18651268 18651268 + Missense_Mutation SNP A A T TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr17:18651268A>T ENST00000308799.4 + 2 739 c.520A>T c.(520-522)Atc>Ttc p.I174F FBXW10_ENST00000301938.4_Missense_Mutation_p.I174F|FBXW10_ENST00000395665.4_Missense_Mutation_p.I174F|FBXW10_ENST00000395667.1_Missense_Mutation_p.I174F Q5XX13 FBW10_HUMAN F-box and WD repeat domain containing 10 174 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 CAATCAAGACATCACAGATGT 0.453 10 22 --- --- --- --- LEPREL4 10609 broad.mit.edu 37 17 39967427 39967427 + Missense_Mutation SNP A A C TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr17:39967427A>C ENST00000355468.3 - 3 1038 c.572T>G c.(571-573)gTc>gGc p.V191G LEPREL4_ENST00000393928.1_Missense_Mutation_p.V191G Q92791 SC65_HUMAN leprecan-like 4 191 synaptonemal complex assembly nucleolus|synaptonemal complex binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1) 8 CTCGTCGGCGACGTCCAGCAT 0.627 84 186 --- --- --- --- ABCA5 23461 broad.mit.edu 37 17 67270183 67270183 + Missense_Mutation SNP T T A TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr17:67270183T>A ENST00000392676.3 - 20 2745 c.2681A>T c.(2680-2682)aAa>aTa p.K894I ABCA5_ENST00000392677.2_Missense_Mutation_p.K894I|ABCA5_ENST00000588877.1_Missense_Mutation_p.K894I Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 894 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) TGGAACAAGTTTGATGGGAAC 0.333 19 62 --- --- --- --- ZNF93 81931 broad.mit.edu 37 19 20044389 20044389 + Missense_Mutation SNP G G A TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr19:20044389G>A ENST00000343769.5 + 4 653 c.625G>A c.(625-627)Gcc>Acc p.A209T AC007204.2_ENST00000592245.1_lincRNA NM_031218.3 NP_112495.2 P35789 ZNF93_HUMAN zinc finger protein 93 209 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 24 ATGTGGCAAAGCCTTTAAGTA 0.373 13 20 --- --- --- --- KIR3DX1 90011 broad.mit.edu 37 19 55048334 55048334 + Missense_Mutation SNP G G A TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr19:55048334G>A ENST00000335056.3 + 5 939 c.901G>A c.(901-903)Gac>Aac p.D301N KIR3DX1_ENST00000482404.1_3'UTR endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1) 24 GBM - Glioblastoma multiforme(193;0.099) TTCCTTCAATGACTCTCCCTA 0.577 37 64 --- --- --- --- ZNFX1 57169 broad.mit.edu 37 20 47866085 47866085 + Missense_Mutation SNP G G T TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr20:47866085G>T ENST00000396105.1 - 14 3722 c.3476C>A c.(3475-3477)aCc>aAc p.T1159N ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.T1159N NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 1159 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CCCGGTATAGGTAGTGAGGAT 0.517 7 80 --- --- --- --- SS18L1 26039 broad.mit.edu 37 20 60737905 60737905 + Silent SNP C C A TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr20:60737905C>A ENST00000331758.3 + 5 500 c.474C>A c.(472-474)gcC>gcA p.A158A SS18L1_ENST00000370848.4_Silent_p.A161A|SS18L1_ENST00000421564.1_Silent_p.A158A|SS18L1_ENST00000491916.1_3'UTR NM_198935.1 NP_945173.1 O75177 CREST_HUMAN synovial sarcoma translocation gene on chromosome 18-like 1 158 Methionine-rich intra-molecular domain (By similarity). chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed chromosome kinetochore SS18L1/SSX1(2) ovary(2)|skin(1) 3 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.92e-08) CGGGACCCGCCTCGCAGGGCG 0.652 T SSX1 synovial sarcoma 13 51 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36696287 36696287 + Silent SNP C C T TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr22:36696287C>T ENST00000216181.5 - 23 3092 c.2862G>A c.(2860-2862)gaG>gaA p.E954E NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 954 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CGCTCTCCTCCTCCTCCAGCT 0.627 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 4 44 --- --- --- --- AWAT2 158835 broad.mit.edu 37 X 69261786 69261786 + Missense_Mutation SNP T T C TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chrX:69261786T>C ENST00000276101.3 - 7 879 c.874A>G c.(874-876)Att>Gtt p.I292V NM_001002254.1 NP_001002254.1 Q6E213 AWAT2_HUMAN acyl-CoA wax alcohol acyltransferase 2 292 endoplasmic reticulum membrane|integral to membrane long-chain-alcohol O-fatty-acyltransferase activity endometrium(3)|large_intestine(3)|lung(2)|ovary(1) 9 GGATTCTCAATCTTGGGCATT 0.483 18 23 --- --- --- --- IL13RA1 3597 broad.mit.edu 37 X 117895121 117895121 + Missense_Mutation SNP A A G TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chrX:117895121A>G ENST00000371666.3 + 6 764 c.697A>G c.(697-699)Att>Gtt p.I233V IL13RA1_ENST00000481868.1_3'UTR|IL13RA1_ENST00000371642.1_Missense_Mutation_p.I233V NM_001560.2 NP_001551.1 P78552 I13R1_HUMAN interleukin 13 receptor, alpha 1 233 interleukin-13 receptor complex cytokine receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(7) 12 TCCTCCACATATTAAAAACCT 0.368 57 14 --- --- --- --- AMBP 259 broad.mit.edu 37 9 116825038 116825054 + Splice_Site DEL TCTGCGGGGGAGAGAAA TCTGCGGGGGAGAGAAA - TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr9:116825038_116825054delTCTGCGGGGGAGAGAAA ENST00000265132.3 - 7 866 c.604delTTTCTCTCCCCCGCAGA c.(604-606)ttt>tt p.F202fs NM_001633.3 NP_001624.1 P02760 AMBP_HUMAN alpha-1-microglobulin/bikunin precursor 202 cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage extracellular region|plasma membrane calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 11 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) CTCCGGACTCTCTGCGGGGGAGAGAAAGAGAAGAAGC 0.498 7 63 --- --- --- --- OR4F6 390648 broad.mit.edu 37 15 102346462 102346470 + In_Frame_Del DEL TCTTCCTCG TCTTCCTCG - TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr15:102346462_102346470delTCTTCCTCG ENST00000328882.4 + 1 561_569 c.540_548delTCTTCCTCG c.(538-549)gatcttcctcga>gaa p.180_183DLPR>E NM_001005326.1 NP_001005326.1 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, member 6 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) TCTTTTGTGATCTTCCTCGATTTATCAAA 0.368 14 108 --- --- --- --- ZNF287 57336 broad.mit.edu 37 17 16455883 16455885 + In_Frame_Del DEL GAA GAA - TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx c17cad55-fb48-4813-8f26-083d3ece8ffa 17d98e3b-65f0-4395-8fdd-11ce4ccfc917 g.chr17:16455883_16455885delGAA ENST00000395824.1 - 6 2188_2190 c.1571_1573delTTC c.(1570-1575)cttcag>cag p.L524del ZNF287_ENST00000395825.3_In_Frame_Del_p.L524del Q9HBT7 ZN287_HUMAN zinc finger protein 287 517 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) TTTTGATGCTGAAGAAGGTGTGT 0.350 23 74 --- --- --- ---