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 GMPPA 29926 broad.mit.edu 37 2 220371072 220371072 + Missense_Mutation SNP G G T TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr2:220371072G>T ENST00000358215.3 + 12 1459 c.1090G>T c.(1090-1092)Gat>Tat p.D364Y GMPPA_ENST00000373917.3_Missense_Mutation_p.D417Y|GMPPA_ENST00000373908.1_Missense_Mutation_p.D364Y|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000341142.3_Missense_Mutation_p.D364Y|GMPPA_ENST00000313597.5_Missense_Mutation_p.D364Y NM_205847.2 NP_995319.1 Q96IJ6 GMPPA_HUMAN GDP-mannose pyrophosphorylase A 364 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 Renal(207;0.0183) Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148) TAACCCCAACGATCCCCGAGC 0.657000 89 376 6.71967e-41 7.2402e-41 1 1 0 COL12A1 1303 broad.mit.edu 37 6 75840656 75840656 + Silent SNP C C T TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr6:75840656C>T ENST00000322507.8 - 36 6288 c.5979G>A c.(5977-5979)cgG>cgA p.R1993R COL12A1_ENST00000483888.2_Silent_p.R1993R|COL12A1_ENST00000416123.2_Silent_p.R1993R|COL12A1_ENST00000345356.6_Silent_p.R829R NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 1993 Fibronectin type-III 15. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength p.R1993R(1) breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CCGGAATCAGCCGCTCCAGAT 0.537000 5 387 0 0 1 0 0 FAM111B 374393 broad.mit.edu 37 11 58892674 58892674 + Silent SNP G G A TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr11:58892674G>A ENST00000343597.3 + 4 1295 c.1104G>A c.(1102-1104)ccG>ccA p.P368P FAM111B_ENST00000411426.1_Silent_p.P338P|FAM111B_ENST00000529618.1_Silent_p.P338P NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111, member B 368 catalytic activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1) 40 GACGGAGGCCGCATCTGGGTA 0.383000 8 746 0 0 1 0 0 LIAS 11019 broad.mit.edu 37 4 39462521 39462521 + Missense_Mutation SNP C C G TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr4:39462521C>G ENST00000261434.3 + 2 275 c.157C>G c.(157-159)Ctt>Gtt p.L53V LIAS_ENST00000340169.2_Missense_Mutation_p.L53V|LIAS_ENST00000513731.1_Missense_Mutation_p.L53V|LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000381846.1_Missense_Mutation_p.L53V NM_006859.2 NP_006850.2 O43766 LIAS_HUMAN lipoic acid synthetase 53 inflammatory response|response to lipopolysaccharide|response to oxidative stress mitochondrion 4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2) 12 Lipoic Acid(DB00166) ATCTGGTGATCTTGCAGACAG 0.403000 134 635 0 0 1 0 0 BAP1 8314 broad.mit.edu 37 3 52439312 52439312 + Splice_Site SNP T T G rs112194987 TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr3:52439312T>G ENST00000460680.1 - 11 1403 c.e11-2 BAP1_ENST00000296288.5_Splice_Site NM_004656.2 NP_004647.1 Q92560 BAP1_HUMAN BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2) 180 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) CTGCACCATCTGAGACAGGGC 0.587000 """N, Mis, F, S, O""" """uveal melanoma, breast, NSCLC, RCC""" """mesothelioma, uveal melanoma""" 157 515 0 0 1 0 0 PSAT1 29968 broad.mit.edu 37 9 80943962 80943962 + Missense_Mutation SNP C C T TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr9:80943962C>T ENST00000376588.3 + 9 1141 c.1073C>T c.(1072-1074)gCc>gTc p.A358V PSAT1_ENST00000347159.2_Missense_Mutation_p.A312V NM_058179.2 NP_478059.1 Q9Y617 SERC_HUMAN phosphoserine aminotransferase 1 358 L-serine biosynthetic process|pyridoxine biosynthetic process O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 20 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165) CAGAAGCTGGCCGCCTTCATG 0.418000 6 420 0 0 1 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44220861 44220861 + Missense_Mutation SNP G G A TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr6:44220861G>A ENST00000371554.1 + 11 2025 c.1811G>A c.(1810-1812)cGg>cAg p.R604Q HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R604Q|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R604Q P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 604 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) AATATGGAGCGGATCATGAAA 0.527000 11 690 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21065824 21065824 + Missense_Mutation SNP G G A TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr16:21065824G>A ENST00000261383.3 - 28 3955 c.3956C>T c.(3955-3957)gCg>gTg p.A1319V DNAH3_ENST00000415178.1_Missense_Mutation_p.A1319V NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1319 Stem (By similarity). 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) GACAATCTGCGCAATCTGATC 0.542000 73 259 0 0 1 0 0 KIAA0907 22889 broad.mit.edu 37 1 155887393 155887393 + Missense_Mutation SNP T T G TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr1:155887393T>G ENST00000368320.3 - 11 1362 c.1337A>C c.(1336-1338)cAg>cCg p.Q446P KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P Q7Z7F0 K0907_HUMAN KIAA0907 446 Pro-rich. breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) gggctggggctggggctgggg 0.567000 21 180 0 0 1 0 0 CSPG5 10675 broad.mit.edu 37 3 47618421 47618421 + Silent SNP C C T TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr3:47618421C>T ENST00000383738.2 - 2 3193 c.1095G>A c.(1093-1095)cgG>cgA p.R365R CSPG5_ENST00000456150.1_Silent_p.R227R|CSPG5_ENST00000264723.4_Silent_p.R365R NM_001206943.1|NM_001206945.1 NP_001193872.1|NP_001193874.1 O95196 CSPG5_HUMAN chondroitin sulfate proteoglycan 5 (neuroglycan C) 365 cell differentiation|intracellular transport|nervous system development|regulation of growth endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction growth factor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) AGCCGTTATGCCGCACAAAGC 0.627000 8 865 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25168432 25168432 + RNA SNP T T C rs149337771 by1000genomes TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr13:25168432T>C ENST00000453498.1 + 0 1104 TTGAAACAGCTGGTGTATTAA 0.373000 5 165 0 0 1 0 0 ZNF107 51427 broad.mit.edu 37 7 64166850 64166850 + Silent SNP G G A TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr7:64166850G>A ENST00000395391.1 + 4 1543 c.168G>A c.(166-168)ggG>ggA p.G56G ZNF107_ENST00000423627.1_Silent_p.G56G|ZNF107_ENST00000344930.3_Silent_p.G56G Q9UII5 ZN107_HUMAN zinc finger protein 107 56 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) AGTGTACGGGGCACAAAGGAG 0.348000 5 354 0 0 1 0 0 SUN1 23353 broad.mit.edu 37 7 897577 897577 + Missense_Mutation SNP G G A TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr7:897577G>A ENST00000456758.2 + 19 2074 c.2074G>A c.(2074-2076)Gat>Aat p.D692N SUN1_ENST00000452783.2_Missense_Mutation_p.D400N|SUN1_ENST00000401592.1_Missense_Mutation_p.D503N|SUN1_ENST00000389574.3_Missense_Mutation_p.D420N|SUN1_ENST00000413514.2_Missense_Mutation_p.D301N|SUN1_ENST00000405266.1_Missense_Mutation_p.D540N|SUN1_ENST00000425407.2_Missense_Mutation_p.D420N O94901 SUN1_HUMAN Sad1 and UNC84 domain containing 1 530 SUN. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding p.D420N(1) NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TGAGACAGTGGATGCCGTACA 0.458000 168 788 0 0 1 0 0 CTNNB1 1499 broad.mit.edu 37 3 41277892 41277892 + Missense_Mutation SNP G G A TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr3:41277892G>A ENST00000349496.5 + 12 2136 c.1856G>A c.(1855-1857)tGt>tAt p.C619Y CTNNB1_ENST00000396185.3_Missense_Mutation_p.C619Y|CTNNB1_ENST00000405570.1_Missense_Mutation_p.C619Y|CTNNB1_ENST00000396183.3_Missense_Mutation_p.C619Y|CTNNB1_ENST00000453024.1_Missense_Mutation_p.C612Y NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 619 adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.C619Y(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) GGGGTCCTCTGTGAACTTGCT 0.438000 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 176 812 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104432526 104432526 + Missense_Mutation SNP C C G TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr9:104432526C>G ENST00000361820.3 - 3 2768 c.2168G>C c.(2167-2169)tGt>tCt p.C723S NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 723 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) GAGGGCATAACAGATGTTCAA 0.433000 6 610 0 0 1 0 0 LONRF3 79836 broad.mit.edu 37 X 118140187 118140187 + Missense_Mutation SNP G G A TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chrX:118140187G>A ENST00000365713.2 + 5 1559 c.1396G>A c.(1396-1398)Ggt>Agt p.G466S LONRF3_ENST00000304778.7_Missense_Mutation_p.G466S|LONRF3_ENST00000371628.3_Missense_Mutation_p.G507S|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000422289.2_Missense_Mutation_p.G251S Q496Y0 LONF3_HUMAN LON peptidase N-terminal domain and ring finger 3 507 proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 36 GTGCAAAGACGGTCTTTCACA 0.368000 267 499 0 0 1 0 0 PCDHB2 0 broad.mit.edu 37 5 140476009 140476009 + Silent SNP C C T rs147433427 TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr5:140476009C>T ENST00000194155.4 + 1 1783 c.1635C>T c.(1633-1635)agC>agT p.S545S NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 545 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGTTGAGCAGCGAGGCGCTGG 0.706000 43 376 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946438 16946438 + RNA SNP G G A rs28392876 by1000genomes TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr1:16946438G>A ENST00000412962.1 - 0 1081 GCCTTCCGCCGGGCCAGCAGC 0.672000 7 151 0 0 1 0 0 TGFBR1 7046 broad.mit.edu 37 9 101911535 101911535 + Missense_Mutation SNP G G A rs113605875 TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr9:101911535G>A ENST00000374994.4 + 9 1577 c.1460G>A c.(1459-1461)cGg>cAg p.R487Q TGFBR1_ENST00000374990.2_Missense_Mutation_p.R410Q|TGFBR1_ENST00000552516.1_Missense_Mutation_p.R491Q|TGFBR1_ENST00000550253.1_Missense_Mutation_p.R418Q NM_004612.2 NP_004603.1 P36897 TGFR1_HUMAN transforming growth factor, beta receptor 1 487 Protein kinase. R -> P (in LDS1A and LDS2A).|R -> Q (in LDS2A and AAT5).|R -> W (in LDS2A). activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 27 Acute lymphoblastic leukemia(62;0.0559) ACAGCATTGCGGATTAAGAAA 0.373000 53 165 0 0 1 0 0 RP11-248G5.8 0 broad.mit.edu 37 13 52803480 52803480 + RNA SNP G G T rs142077571 by1000genomes TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr13:52803480G>T ENST00000451298.1 - 0 1024 RP11-64P12.8_ENST00000606031.1_RNA p.F117L(1) AATAAATAACGAATCTTTTTA 0.363000 4 66 2.56e-06 2.64649e-06 1 1 0 GPANK1 7918 broad.mit.edu 37 6 31631675 31631675 + Missense_Mutation SNP C C T TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr6:31631675C>T ENST00000375906.1 - 3 1265 c.581G>A c.(580-582)cGc>cAc p.R194H GPANK1_ENST00000375896.4_Missense_Mutation_p.R194H|GPANK1_ENST00000375895.2_Missense_Mutation_p.R194H|GPANK1_ENST00000375900.4_Missense_Mutation_p.R194H|GPANK1_ENST00000375893.2_Missense_Mutation_p.R194H NM_001199237.1 NP_001186166.1 O95872 GPAN1_HUMAN G patch domain and ankyrin repeats 1 194 intracellular nucleic acid binding central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7) 12 CCTGACCATGCGGGCTACCTC 0.607000 6 489 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89405142 89405142 + RNA SNP C C T rs3018757 by1000genomes TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr11:89405142C>T ENST00000532352.1 + 0 1082 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 GTTCATGAAACTGTGAGGAGC 0.433000 7 674 0 0 1 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47246916 47246916 + Silent SNP C C A rs148956387 byFrequency TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr17:47246916C>A ENST00000300404.2 + 11 1586 c.1527C>A c.(1525-1527)ctC>ctA p.L509L B4GALNT2_ENST00000393354.2_Silent_p.L449L|B4GALNT2_ENST00000504681.1_Silent_p.L423L NM_153446.2 NP_703147.2 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 509 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) GGACCCTACTCGTGGGGTCAT 0.522000 96 472 1.54295e-31 1.62808e-31 1 1 0 MARCH5 54708 broad.mit.edu 37 10 94110927 94110927 + Missense_Mutation SNP G G A TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr10:94110927G>A ENST00000358935.2 + 6 1132 c.800G>A c.(799-801)cGc>cAc p.R267H NM_017824.4 NP_060294.1 Q9NX47 MARH5_HUMAN membrane-associated ring finger (C3HC4) 5 267 cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane GTPase binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9 CAGGCACACCGCAAAATTCTG 0.353000 6 417 0 0 1 0 0 FMN1 342184 broad.mit.edu 37 15 33261055 33261055 + Silent SNP T T G TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr15:33261055T>G ENST00000334528.9 - 4 2177 c.2178A>C c.(2176-2178)ccA>ccC p.P726P FMN1_ENST00000561249.1_Silent_p.P851P|FMN1_ENST00000559047.1_Silent_p.P949P NM_001103184.2 NP_001096654.1 Q68DA7 FMN1_HUMAN formin 1 949 Mediates interaction with alpha-catenin (By similarity). actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) GTGCAAGTCCTGGGGGTGGTG 0.622000 14 183 0 0 1 0 0 AGPAT3 56894 broad.mit.edu 37 21 45402220 45402220 + Missense_Mutation SNP G G A TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr21:45402220G>A ENST00000398063.2 + 9 1570 c.1078G>A c.(1078-1080)Gag>Aag p.E360K AGPAT3_ENST00000546158.1_Missense_Mutation_p.E360K|AGPAT3_ENST00000398058.1_Missense_Mutation_p.E360K|AGPAT3_ENST00000398061.1_Missense_Mutation_p.E360K|AGPAT3_ENST00000327505.2_Missense_Mutation_p.E360K|AGPAT3_ENST00000291572.8_Missense_Mutation_p.E360K|AGPAT3_ENST00000479117.1_3'UTR NM_001037553.1 NP_001032642.1 Q9NRZ7 PLCC_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 3 360 VTEIEKGSSYGNQEFKKKE -> ESLEPGRWRLQ (in Ref. 3; AAQ89067). phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 1-acylglycerol-3-phosphate O-acyltransferase activity large_intestine(4)|lung(5)|ovary(1)|prostate(1) 11 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) AGGAGTAACTGAGATAGAAAA 0.453000 206 1003 0 0 1 0 0 GRM8 0 broad.mit.edu 37 7 126173847 126173847 + Missense_Mutation SNP T T G TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr7:126173847T>G ENST00000339582.2 - 9 2397 c.1589A>C c.(1588-1590)aAa>aCa p.K530T GRM8_ENST00000480995.1_Intron|GRM8_ENST00000358373.3_Missense_Mutation_p.K530T|GRM8_ENST00000444921.2_Missense_Mutation_p.K530T O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 530 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) AGGGACCCCTTTCACCGTTTT 0.557000 HNSCC(24;0.065) 17 669 0 0 1 0 0 SMYD1 150572 broad.mit.edu 37 2 88387407 88387407 + Missense_Mutation SNP T T G TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr2:88387407T>G ENST00000419482.2 + 3 426 c.341T>G c.(340-342)gTg>gGg p.V114G SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000444564.2_Missense_Mutation_p.V114G|SMYD1_ENST00000438570.1_Intron NM_198274.3 NP_938015.1 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 114 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding p.V114G(1) NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 ATGTGGCGGGTGGAGAGAGAA 0.612000 13 91 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195410689 195410689 + RNA SNP C C T rs6583275 by1000genomes TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr3:195410689C>T ENST00000445430.1 + 0 1886 CTTTGAGGTGCACTGGAGGAA 0.567000 10 109 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547141 132547141 + Silent SNP G G A TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr12:132547141G>A ENST00000333577.4 + 48 8446 c.8337G>A c.(8335-8337)caG>caA p.Q2779Q EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000332482.4_Silent_p.Q2706Q Q96L91 EP400_HUMAN E1A binding protein p400 2779 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2742Q(2) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacagcagcagcagc 0.597000 5 328 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946434 16946434 + RNA SNP C C T rs367060 TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr1:16946434C>T ENST00000412962.1 - 0 1085 CTCAGCCTTCCGCCGGGCCAG 0.672000 6 156 0 0 1 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520323 33520323 + Missense_Mutation SNP C C T TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr17:33520323C>T ENST00000297307.5 - 1 1089 c.1004G>A c.(1003-1005)aGg>aAg p.R335K NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 335 integral to membrane p.R335K(4) CTCCTCCACCCTCCCTGTCCT 0.557000 6 369 0 0 1 0 0 BAIAP2 10458 broad.mit.edu 37 17 79078379 79078379 + Missense_Mutation SNP C C T TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr17:79078379C>T ENST00000321300.6 + 10 1225 c.1132C>T c.(1132-1134)Cgg>Tgg p.R378W BAIAP2_ENST00000575245.1_Missense_Mutation_p.R411W|BAIAP2_ENST00000416299.2_Missense_Mutation_p.R241W|BAIAP2_ENST00000392411.3_Missense_Mutation_p.R300W|BAIAP2_ENST00000575712.1_Missense_Mutation_p.R378W|BAIAP2_ENST00000321280.7_Missense_Mutation_p.R378W|BAIAP2_ENST00000435091.3_Missense_Mutation_p.R378W|BAIAP2_ENST00000428708.2_Missense_Mutation_p.R378W NM_001144888.1|NM_017451.2 NP_001138360.1|NP_059345.1 Q9UQB8 BAIP2_HUMAN BAI1-associated protein 2 378 SH3. axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1) 18 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) TGGCCGTATGCGGGTGAAGGC 0.642000 5 413 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25168501 25168501 + RNA SNP G G A rs4770716 by1000genomes TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr13:25168501G>A ENST00000453498.1 + 0 1173 TTTTCTCTTCGGTGAGTAATC 0.388000 5 192 0 0 1 0 0 ACTA1 58 broad.mit.edu 37 1 229567782 229567782 + Missense_Mutation SNP C C A TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr1:229567782C>A ENST00000366684.3 - 5 869 c.767G>T c.(766-768)cGc>cTc p.R256L ACTA1_ENST00000366683.2_Missense_Mutation_p.R168L NM_001100.3 NP_001091.1 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 256 muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1) 28 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) GCAGCGGAAGCGCTCGTTGCC 0.716000 4 119 1 1 1 1 0 LINC00969 0 broad.mit.edu 37 3 195410687 195410687 + RNA SNP T T A rs6583274 by1000genomes TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr3:195410687T>A ENST00000445430.1 + 0 1884 CCCTTTGAGGTGCACTGGAGG 0.567000 9 112 0 0 1 0 0 SOX5 6660 broad.mit.edu 37 12 23728637 23728637 + Missense_Mutation SNP G G C TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr12:23728637G>C ENST00000546136.1 - 9 1263 c.1261C>G c.(1261-1263)Cca>Gca p.P421A SOX5_ENST00000545921.1_Missense_Mutation_p.P424A|SOX5_ENST00000381381.2_Intron|SOX5_ENST00000451604.2_Missense_Mutation_p.P434A|SOX5_ENST00000396007.2_Missense_Mutation_p.P48A|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000309359.1_Missense_Mutation_p.P421A|SOX5_ENST00000537393.1_Missense_Mutation_p.P399A P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 434 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 AACGCTGCTGGGACAGAGGCT 0.483000 30 770 0 0 1 0 0 HYAL4 23553 broad.mit.edu 37 7 123508827 123508827 + Nonsense_Mutation SNP C C G TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr7:123508827C>G ENST00000223026.4 + 3 1138 c.500C>G c.(499-501)tCa>tGa p.S167* HYAL4_ENST00000476325.1_Nonsense_Mutation_p.S167* NM_012269.2 NP_036401.2 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 167 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 AGACAGAAGTCAAGAAAGCTT 0.408000 113 496 0 0 1 0 0 IYD 389434 broad.mit.edu 37 6 150715311 150715311 + Missense_Mutation SNP G G A TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr6:150715311G>A ENST00000344419.3 + 4 747 c.607G>A c.(607-609)Gca>Aca p.A203T IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T NM_203395.2 NP_981932.1 Q6PHW0 IYD1_HUMAN iodotyrosine deiodinase 203 cellular nitrogen compound metabolic process|hormone biosynthetic process integral to membrane|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 Ovarian(120;0.028) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;4.16e-12) TGGTTTCGCCGCAAATGGCAA 0.433000 5 473 0 0 1 0 0 GDI2 2665 broad.mit.edu 37 10 5808002 5808002 + Silent SNP C C T TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr10:5808002C>T ENST00000380191.4 - 11 1595 c.1305G>A c.(1303-1305)aaG>aaA p.K435K GDI2_ENST00000380132.4_Silent_p.K439K|GDI2_ENST00000380181.3_Silent_p.K390K|GDI2_ENST00000479928.1_5'UTR NM_001115156.1|NM_001494.3 NP_001108628.1|NP_001485.2 P50395 GDIB_HUMAN GDP dissociation inhibitor 2 435 protein transport|small GTPase mediated signal transduction cell surface|cytosol|membrane protein binding|Rab GDP-dissociation inhibitor activity NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1) 10 TCTTCTTGCGCTTCATTTCCT 0.348000 145 770 0 0 1 0 0 ENPP7 339221 broad.mit.edu 37 17 77705082 77705082 + Missense_Mutation SNP G G A TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr17:77705082G>A ENST00000328313.5 + 1 402 c.181G>A c.(181-183)Ggg>Agg p.G61R NM_178543.3 NP_848638.2 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 7 61 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3) 34 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GGCCCGAGACGGGGTGAAGGC 0.647000 4 224 0 0 1 0 0 TXNRD1 7296 broad.mit.edu 37 12 104682725 104682725 + Silent SNP G G A TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr12:104682725G>A ENST00000526691.1 + 2 483 c.27G>A c.(25-27)ctG>ctA p.L9L TXNRD1_ENST00000524698.1_5'UTR|TXNRD1_ENST00000529546.1_5'UTR|TXNRD1_ENST00000525566.1_Silent_p.L107L|TXNRD1_ENST00000429002.2_Silent_p.L107L|TXNRD1_ENST00000503506.2_5'UTR|TXNRD1_ENST00000378070.4_Silent_p.L56L|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000542918.1_Silent_p.L7L|TXNRD1_ENST00000540716.1_5'UTR|TXNRD1_ENST00000388854.3_Silent_p.L9L|TXNRD1_ENST00000526390.1_5'UTR NM_001261445.1|NM_003330.3 NP_001248374.1|NP_003321.3 Q16881 TRXR1_HUMAN thioredoxin reductase 1 107 cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport cytosol|nucleolus electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 16 GTCGGGCCCTGGAAGGAACGC 0.612000 121 633 0 0 1 0 0 SCFD2 152579 broad.mit.edu 37 4 54231749 54231749 + Silent SNP C C T TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr4:54231749C>T ENST00000401642.3 - 1 493 c.360G>A c.(358-360)gcG>gcA p.A120A SCFD2_ENST00000388940.4_Silent_p.A120A NM_152540.3 NP_689753.2 Q8WU76 SCFD2_HUMAN sec1 family domain containing 2 120 Poly-Ala. protein transport|vesicle docking involved in exocytosis breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134) CCGCTGCCGCCGCTGGGACAT 0.592000 72 251 0 0 1 0 0 TMEM26 219623 broad.mit.edu 37 10 63170199 63170199 + Missense_Mutation SNP C C T TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr10:63170199C>T ENST00000399298.3 - 6 1356 c.988G>A c.(988-990)Gca>Aca p.A330T TMEM26_ENST00000507507.1_5'UTR NM_178505.6 NP_848600.2 Q6ZUK4 TMM26_HUMAN transmembrane protein 26 330 integral to membrane kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 18 Prostate(12;0.0112) GAGGTCTGTGCCCGGCAACCA 0.597000 7 421 0 0 1 0 0 HMHA1 23526 broad.mit.edu 37 19 1073261 1073261 + Missense_Mutation SNP G G A TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr19:1073261G>A ENST00000313093.2 + 3 766 c.535G>A c.(535-537)Gca>Aca p.A179T HMHA1_ENST00000536472.1_Missense_Mutation_p.A19T|HMHA1_ENST00000586866.1_Missense_Mutation_p.A183T|HMHA1_ENST00000539243.2_Missense_Mutation_p.A195T|HMHA1_ENST00000592335.1_3'UTR|HMHA1_ENST00000590214.1_Missense_Mutation_p.A206T|HMHA1_ENST00000543365.1_Missense_Mutation_p.A62T NM_012292.3 NP_036424.2 Q92619 HMHA1_HUMAN histocompatibility (minor) HA-1 179 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2) 16 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GACGCTCACCGCAGCCGGCAC 0.637000 6 579 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664056 22664056 + RNA SNP T T C rs3178309 TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr22:22664056T>C ENST00000426066.1 + 0 623 NR_027293.1 ATAAAGTATATGATTTTGTGT 0.348000 8 297 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155176731 155176731 + Missense_Mutation SNP G G A TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr4:155176731G>A ENST00000357232.3 - 21 5515 c.5516C>T c.(5515-5517)gCa>gTa p.A1839V NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1839 Cadherin 16. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ACCACTCAGTGCATCAATCTG 0.458000 46 197 0 0 1 0 0 RAB6B 51560 broad.mit.edu 37 3 133560230 133560230 + Missense_Mutation SNP C C G TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr3:133560230C>G ENST00000285208.4 - 4 537 c.188G>C c.(187-189)cGa>cCa p.R63P RAB6B_ENST00000543906.1_Missense_Mutation_p.R63P|RAB6B_ENST00000486858.1_Missense_Mutation_p.R50P|RAB6B_ENST00000469959.1_Intron NM_016577.3 NP_057661.3 Q9NRW1 RAB6B_HUMAN RAB6B, member RAS oncogene family 63 protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle|Golgi membrane GTP binding|GTPase activity|protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1) 11 GAGCTGCAGTCGCACCTGTCT 0.647000 69 353 0 0 1 0 0 KIAA0226L 80183 broad.mit.edu 37 13 46952072 46952072 + Missense_Mutation SNP T T C TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr13:46952072T>C ENST00000409879.2 - 3 1077 c.17A>G c.(16-18)tAc>tGc p.Y6C KIAA0226L_ENST00000378797.2_5'UTR|KIAA0226L_ENST00000378787.3_Intron|KIAA0226L_ENST00000429979.1_5'UTR|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.Y6C|KIAA0226L_ENST00000534925.1_Intron|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.Y6C|KIAA0226L_ENST00000480935.1_Intron|KIAA0226L_ENST00000389908.3_Intron|KIAA0226L_ENST00000378781.3_5'UTR Q9H714 CM018_HUMAN KIAA0226-like 0 NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1) 26 GAGGAGAAAGTAATGATTGGA 0.438000 12 87 0 0 1 0 0 TMEM87A 25963 broad.mit.edu 37 15 42520944 42520944 + Silent SNP C C T TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr15:42520944C>T ENST00000389834.4 - 13 1470 c.1206G>A c.(1204-1206)cgG>cgA p.R402R TMEM87A_ENST00000448392.1_Silent_p.R341R NM_015497.3 NP_056312.2 Q8NBN3 TM87A_HUMAN transmembrane protein 87A 402 integral to membrane breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;1.03e-06) TGGTGAAATGCCGATACAAAG 0.383000 6 519 0 0 1 0 0 ECEL1 9427 broad.mit.edu 37 2 233351013 233351013 + Silent SNP G G A TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr2:233351013G>A ENST00000304546.1 - 2 561 c.351C>T c.(349-351)gaC>gaT p.D117D ECEL1_ENST00000409941.1_Silent_p.D117D NM_004826.2 NP_004817.2 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 117 neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) CGATGCTGGCGTCCAGGTTGG 0.726000 13 70 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102304772 102304772 + RNA SNP T T C TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr15:102304772T>C ENST00000561463.1 + 0 12818 CACAGCGGCGTGACGAGACTC 0.587000 10 94 0 0 1 0 0 SORT1 6272 broad.mit.edu 37 1 109865648 109865648 + Missense_Mutation SNP G G A TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr1:109865648G>A ENST00000256637.6 - 15 1988 c.1930C>T c.(1930-1932)Cgg>Tgg p.R644W SORT1_ENST00000538502.1_Missense_Mutation_p.R507W NM_002959.5 NP_002950.3 Q99523 SORT_HUMAN sortilin 1 644 Interactions with LRPAP1 and NGFB. endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184) TTGCGTAGCCGCAGAAACTGT 0.488000 5 426 0 0 1 0 0 CTC-457E21.3 0 broad.mit.edu 37 19 22780172 22780172 + RNA SNP C C A TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr19:22780172C>A ENST00000600260.1 + 0 250 NR_033899.1 CCGAGACAACCACTTCTGGTG 0.507000 83 300 2.13431e-38 2.2677e-38 1 1 0 TNPO3 23534 broad.mit.edu 37 7 128658021 128658021 + Missense_Mutation SNP A A T TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr7:128658021A>T ENST00000393245.1 - 2 684 c.311T>A c.(310-312)aTt>aAt p.I104N TNPO3_ENST00000265388.5_Missense_Mutation_p.I104N|TNPO3_ENST00000471166.1_Missense_Mutation_p.I104N|TNPO3_ENST00000471234.1_Missense_Mutation_p.I104N|TNPO3_ENST00000482320.1_Missense_Mutation_p.I38N NM_012470.3 NP_036602.1 Q9Y5L0 TNPO3_HUMAN transportin 3 104 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 CTGCGTTACAATAACAGGTGA 0.408000 64 303 0 0 1 0 0 MPZL1 9019 broad.mit.edu 37 1 167734835 167734835 + Missense_Mutation SNP C C T TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr1:167734835C>T ENST00000359523.2 + 2 309 c.107C>T c.(106-108)tCa>tTa p.S36L MPZL1_ENST00000392121.3_Missense_Mutation_p.S36L|MPZL1_ENST00000474859.1_Missense_Mutation_p.S36L NM_003953.5|NM_024569.4 NP_003944.1|NP_078845.3 O95297 MPZL1_HUMAN myelin protein zero-like 1 36 Ig-like V-type. cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane protein binding|structural molecule activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2) 15 all_hematologic(923;0.215) GCTGGAGTATCAGCCTTGGAA 0.433000 63 276 0 0 1 0 0 NEURL4 84461 broad.mit.edu 37 17 7227181 7227181 + Missense_Mutation SNP C C A TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr17:7227181C>A ENST00000399464.2 - 12 2228 c.2213G>T c.(2212-2214)cGc>cTc p.R738L NEURL4_ENST00000315614.7_Missense_Mutation_p.R738L|NEURL4_ENST00000570460.1_Missense_Mutation_p.R716L NM_032442.2 NP_115818.2 neuralized E3 ubiquitin protein ligase 4 central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 ACAGTTGTGGCGGAGGGCGGT 0.622000 OREG0024134 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 92 654 5.5301e-39 5.91682e-39 1 1 0 NFIC 4782 broad.mit.edu 37 19 3449068 3449068 + Missense_Mutation SNP T T C TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr19:3449068T>C ENST00000589123.1 + 7 1108 c.988T>C c.(988-990)Tcc>Ccc p.S330P NFIC_ENST00000346156.5_Missense_Mutation_p.S306P|NFIC_ENST00000341919.3_Missense_Mutation_p.S339P|NFIC_ENST00000590282.1_Missense_Mutation_p.S339P|NFIC_ENST00000586919.1_Missense_Mutation_p.S306P|NFIC_ENST00000395111.3_Missense_Mutation_p.S330P|NFIC_ENST00000443272.2_Missense_Mutation_p.S339P NM_001245005.1|NM_205843.2 NP_001231934.1|NP_995315.1 P08651 NFIC_HUMAN nuclear factor I/C (CCAAT-binding transcription factor) 339 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) CAACAGCCCGTCCCCCCAGGA 0.667000 11 252 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138169334 138169334 + Missense_Mutation SNP C C T TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr2:138169334C>T ENST00000409968.1 + 14 3029 c.2851C>T c.(2851-2853)Cgg>Tgg p.R951W THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.R920W|THSD7B_ENST00000272643.3_Missense_Mutation_p.R951W thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CCGAGGACTGCGGGTACAAGC 0.488000 7 666 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 17 331 0 0 1 0 0 DISP2 85455 broad.mit.edu 37 15 40662363 40662363 + Missense_Mutation SNP C C G TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr15:40662363C>G ENST00000267889.3 + 8 4137 c.4050C>G c.(4048-4050)gaC>gaG p.D1350E NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 1350 smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) CAGTGTATGACCCATCATTGC 0.637000 45 765 0 0 1 0 0 AP1B1 162 broad.mit.edu 37 22 29727462 29727462 + Missense_Mutation SNP G G C TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr22:29727462G>C ENST00000357586.2 - 19 2686 c.2500C>G c.(2500-2502)Ctc>Gtc p.L834V AP1B1_ENST00000432560.2_Missense_Mutation_p.L827V|AP1B1_ENST00000356015.2_Missense_Mutation_p.L827V|AP1B1_ENST00000415447.1_Missense_Mutation_p.L827V|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000317368.7_Missense_Mutation_p.L807V|AP1B1_ENST00000405198.1_Missense_Mutation_p.L834V|AP1B1_ENST00000402502.1_Missense_Mutation_p.L827V NM_001127.3 NP_001118.3 Q10567 AP1B1_HUMAN adaptor-related protein complex 1, beta 1 subunit 834 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 TCCACAAAGAGGATGTGCAGT 0.577000 215 1127 0 0 1 0 0 CLEC1B 51266 broad.mit.edu 37 12 10145836 10145836 + Missense_Mutation SNP T T C TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr12:10145836T>C ENST00000428126.2 - 7 766 c.497A>G c.(496-498)cAt>cGt p.H166R CLEC1B_ENST00000298527.6_Missense_Mutation_p.H199R|CLEC1B_ENST00000348658.4_Missense_Mutation_p.H166R Q9P126 CLC1B_HUMAN C-type lectin domain family 1, member B 199 C-type lectin. cell surface receptor linked signaling pathway|defense response integral to plasma membrane protein binding|sugar binding|transmembrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1) 19 TTTCCCATTATGAAAATAAGC 0.368000 137 671 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2159313 2159313 + Missense_Mutation SNP C C T TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr16:2159313C>T ENST00000262304.4 - 15 6063 c.5855G>A c.(5854-5856)gGc>gAc p.G1952D PKD1_ENST00000423118.1_Missense_Mutation_p.G1952D NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 1952 PKD 15. G -> D. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GTGGTTTTTGCCCCGCACGCT 0.711000 4 218 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245850589 245850589 + Missense_Mutation SNP T T A TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr1:245850589T>A ENST00000366518.4 + 9 3265 c.3161T>A c.(3160-3162)aTg>aAg p.M1054K KIF26B_ENST00000407071.2_Missense_Mutation_p.M1435K Q2KJY2 KI26B_HUMAN kinesin family member 26B 1435 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) AAGAAAGAGATGAAATTTGAG 0.552000 19 70 0 0 1 0 0 BAIAP2L2 80115 broad.mit.edu 37 22 38484914 38484914 + Missense_Mutation SNP G G A TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr22:38484914G>A ENST00000381669.3 - 10 1103 c.959C>T c.(958-960)cCg>cTg p.P320L NM_025045.4 NP_079321.3 Q6UXY1 BI2L2_HUMAN BAI1-associated protein 2-like 2 320 filopodium assembly|signal transduction cytoskeletal adaptor activity|SH3 domain binding large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 8 Melanoma(58;0.045) gccgccgcccgggcgcTCGCC 0.726000 3 63 0 0 1 0 0 CD5 921 broad.mit.edu 37 11 60892527 60892527 + Missense_Mutation SNP G G A TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr11:60892527G>A ENST00000347785.3 + 9 1469 c.1303G>A c.(1303-1305)Gca>Aca p.A435T NM_014207.3 NP_055022.2 P06127 CD5_HUMAN CD5 molecule 435 cell proliferation|cell recognition integral to plasma membrane scavenger receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05) BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528) CAACCACACGGCAACCGTCCG 0.567000 5 368 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25168489 25168489 + RNA SNP G G A rs142860004 by1000genomes TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr13:25168489G>A ENST00000453498.1 + 0 1161 TGAAAGTGCAGTTTTTCTCTT 0.363000 6 196 0 0 1 0 0 NDUFA4 4697 broad.mit.edu 37 7 10979660 10979660 + Missense_Mutation SNP C C T TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr7:10979660C>T ENST00000339600.5 - 1 223 c.25G>A c.(25-27)Gcc>Acc p.A9T NDUFA4_ENST00000492822.1_5'UTR NM_002489.3 NP_002480.1 O00483 NDUA4_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa 9 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity large_intestine(2)|lung(1) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.177) NADH(DB00157) TGCTTCTTGGCCTGACCGATG 0.552000 89 1070 0 0 1 0 0 MAP3K4 4216 broad.mit.edu 37 6 161529826 161529826 + Silent SNP T T C TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr6:161529826T>C ENST00000392142.4 + 22 4319 c.4171T>C c.(4171-4173)Ttg>Ctg p.L1391L MAP3K4_ENST00000366919.2_Silent_p.L1341L|MAP3K4_ENST00000366920.2_Silent_p.L1387L|MAP3K4_ENST00000348824.7_Silent_p.L1337L NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1391 Protein kinase. activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) TGCAGACGAATTGAAAATATT 0.408000 167 579 0 0 1 0 0 HERC2P3 0 broad.mit.edu 37 15 20644850 20644850 + RNA SNP G G A TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr15:20644850G>A ENST00000428453.1 - 0 3097 p.A803V(4) central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 CATGTCCCTCGCCCTTTCGGT 0.463000 5 195 0 0 1 0 0 DRD3 1814 broad.mit.edu 37 3 113890593 113890593 + Missense_Mutation SNP T T C TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr3:113890593T>C ENST00000383673.2 - 2 677 c.247A>G c.(247-249)Atg>Gtg p.M83V DRD3_ENST00000467632.1_Missense_Mutation_p.M83V|DRD3_ENST00000295881.7_Missense_Mutation_p.M83V|DRD3_ENST00000460779.1_Missense_Mutation_p.M83V NM_000796.3 NP_000787.2 P35462 DRD3_HUMAN dopamine receptor D3 83 activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1) 36 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) ACCCAGGGCATCACCAAGGTG 0.557000 7 740 0 0 1 0 0 DSPP 1834 broad.mit.edu 37 4 88534045 88534045 + Missense_Mutation SNP A A T TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr4:88534045A>T ENST00000399271.1 + 4 827 c.707A>T c.(706-708)gAt>gTt p.D236V DSPP_ENST00000282478.7_Missense_Mutation_p.D236V|RP11-742B18.1_ENST00000506480.1_RNA NM_014208.3 NP_055023.2 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein 236 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) ACTGGAGAAGATGCTGGCCTG 0.473000 56 222 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109625910 109625910 + Missense_Mutation SNP C C T TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr12:109625910C>T ENST00000338432.7 + 13 2206 c.2087C>T c.(2086-2088)gCg>gTg p.A696V ACACB_ENST00000377848.3_Missense_Mutation_p.A696V|ACACB_ENST00000377854.5_Missense_Mutation_p.A696V O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 696 Biotin carboxylation. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) CACGAGTTTGCGGATTCCCAA 0.562000 6 696 0 0 1 0 0 PTPRE 5791 broad.mit.edu 37 10 129847884 129847884 + Missense_Mutation SNP G G A TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr10:129847884G>A ENST00000254667.3 + 6 653 c.374G>A c.(373-375)cGt>cAt p.R125H PTPRE_ENST00000306042.5_Missense_Mutation_p.R67H|PTPRE_ENST00000471218.1_Silent_p.P123P|PTPRE_ENST00000430713.2_Missense_Mutation_p.R125H|PTPRE_ENST00000419012.2_Missense_Mutation_p.R125H NM_006504.4 NP_006495.1 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 125 negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) GAGGAGATCCGTATCAGATCC 0.587000 91 406 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 22 141 2.98393e-07 3.10572e-07 1 1 0 USP13 8975 broad.mit.edu 37 3 179472528 179472528 + Missense_Mutation SNP A A G TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr3:179472528A>G ENST00000263966.3 + 15 2278 c.1807A>G c.(1807-1809)Att>Gtt p.I603V USP13_ENST00000482333.1_Intron|USP13_ENST00000496897.1_Missense_Mutation_p.I538V NM_003940.2 NP_003931.2 Q92995 UBP13_HUMAN ubiquitin specific peptidase 13 (isopeptidase T-3) 603 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 46 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) AGATGTTTCTATTGATATGCC 0.443000 16 692 0 0 1 0 0 ZNF276 92822 broad.mit.edu 37 16 89789731 89789731 + Missense_Mutation SNP C C T TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr16:89789731C>T ENST00000289816.5 + 4 707 c.395C>T c.(394-396)gCg>gTg p.A132V ZNF276_ENST00000568064.1_Missense_Mutation_p.R126W|ZNF276_ENST00000446326.2_Missense_Mutation_p.R4W|ZNF276_ENST00000443381.2_Missense_Mutation_p.A207V NM_152287.3 NP_689500.2 Q8N554 ZN276_HUMAN zinc finger protein 276 207 ZAD. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1) 14 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) CATGGACATGCGGCCAGCTGC 0.642000 78 379 0 0 1 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64594614 64594614 + Missense_Mutation SNP G G A TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr11:64594614G>A ENST00000342711.5 - 34 4296 c.4297C>T c.(4297-4299)Cgc>Tgc p.R1433C NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 1433 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 AGCTTGGAGCGCACAAAAGGG 0.652000 7 805 0 0 1 0 0 IL2RA 3559 broad.mit.edu 37 10 6067953 6067953 + Missense_Mutation SNP C C T TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr10:6067953C>T ENST00000379959.3 - 2 273 c.100G>A c.(100-102)Gcc>Acc p.A34T RP11-536K7.5_ENST00000440436.1_RNA|IL2RA_ENST00000379954.1_Missense_Mutation_p.A34T|IL2RA_ENST00000256876.6_Missense_Mutation_p.A34T NM_000417.2 NP_000408.1 P01589 IL2RA_HUMAN interleukin 2 receptor, alpha 34 Sushi 1. cell proliferation integral to membrane interleukin-2 receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 17 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) TTGAATGTGGCGTGTGGGATC 0.478000 70 339 0 0 1 0 0 RP11-248G5.8 0 broad.mit.edu 37 13 52803481 52803481 + RNA SNP A A C TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr13:52803481A>C ENST00000451298.1 - 0 1023 RP11-64P12.8_ENST00000606031.1_RNA ATAAATAACGAATCTTTTTAT 0.363000 4 65 0 0 1 0 0 BMP15 9210 broad.mit.edu 37 X 50659096 50659096 + Missense_Mutation SNP G G A TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chrX:50659096G>A ENST00000252677.3 + 2 668 c.668G>A c.(667-669)gGc>gAc p.G223D NM_005448.2 NP_005439.2 O95972 BMP15_HUMAN bone morphogenetic protein 15 223 female gamete generation|granulosa cell development|ovarian follicle development extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1) 26 Ovarian(276;0.236) CTCTGGCATGGCACTTCATCC 0.448000 5 468 0 0 1 0 0 RP11-93K22.13 0 broad.mit.edu 37 3 129811972 129811972 + RNA SNP G G C TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr3:129811972G>C ENST00000514010.1 - 0 157 ALG1L2_ENST00000507643.1_RNA TTGACGGACAGAACCTTCCTT 0.408000 5 420 0 0 1 0 0 PPIL2 23759 broad.mit.edu 37 22 22049265 22049265 + Nonsense_Mutation SNP G G T TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr22:22049265G>T ENST00000406385.1 + 19 1432 c.1372G>T c.(1372-1374)Gag>Tag p.E458* PPIL2_ENST00000335025.7_Nonsense_Mutation_p.E458*|PPIL2_ENST00000492445.2_Nonsense_Mutation_p.E458*|PPIL2_ENST00000412327.1_Nonsense_Mutation_p.E458*|PPIL2_ENST00000398831.3_Nonsense_Mutation_p.E458*|PPIL2_ENST00000456792.2_Intron Q13356 PPIL2_HUMAN peptidylprolyl isomerase (cyclophilin)-like 2 458 blood coagulation|leukocyte migration|protein folding|protein polyubiquitination Golgi lumen|nucleus|ubiquitin ligase complex peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 17 Colorectal(54;0.105) GGTAGCCCCGGAGACCAAAGT 0.642000 142 624 6.46734e-63 7.01776e-63 1 1 0 NUP153 9972 broad.mit.edu 37 6 17688753 17688753 + Missense_Mutation SNP T T C rs138192099 TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr6:17688753T>C ENST00000262077.2 - 2 207 c.208A>G c.(208-210)Aca>Gca p.T70A NUP153_ENST00000537253.1_Missense_Mutation_p.T70A NM_005124.2 NP_005115.2 P49790 NU153_HUMAN nucleoporin 153kDa 70 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2) 53 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) CTTGTGTCTGTTGAACAGCTG 0.443000 41 721 0 0 1 0 0 DCP1B 196513 broad.mit.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr12:2062350C>G ENST00000280665.6 - 7 835 c.756G>C c.(754-756)caG>caC p.Q252H DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 252 Poly-Gln. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding p.Q252H(8) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) gctgctgctgctgGTGGAGAG 0.552000 5 330 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr17:21730916G>T ENST00000584755.1 + 2 615 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552000 6 372 8.12818e-05 8.29075e-05 1 1 0 U2AF2 11338 broad.mit.edu 37 19 56171880 56171880 + Splice_Site SNP A A C TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr19:56171880A>C ENST00000450554.2 + 4 1189 c.e4-1 U2AF2_ENST00000308924.4_Splice_Site NM_001012478.1|NM_007279.2 NP_001012496.1|NP_009210.1 P26368 U2AF2_HUMAN U2 small nuclear RNA auxiliary factor 2 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding p.?(2) biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2) 21 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) CACCTCCCCCAGTCGTTCCCC 0.637000 9 120 0 0 1 0 0 EPHB6 0 broad.mit.edu 37 7 142562188 142562188 + Silent SNP C C T TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr7:142562188C>T ENST00000392957.2 + 7 1417 c.630C>T c.(628-630)taC>taT p.Y210Y EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Silent_p.Y210Y NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 210 extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) GCGGCTTCTACGTGGCCTTCC 0.657000 27 1379 0 0 1 0 0 CADPS2 93664 broad.mit.edu 37 7 122303575 122303575 + Missense_Mutation SNP A A C TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr7:122303575A>C ENST00000334010.7 - 3 923 c.502T>G c.(502-504)Tgt>Ggt p.C168G CADPS2_ENST00000412584.2_Missense_Mutation_p.C168G|CADPS2_ENST00000313070.7_Missense_Mutation_p.C168G|CADPS2_ENST00000449022.2_Missense_Mutation_p.C168G NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 168 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding p.C168G(1) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 TTAGCAGAACACCCTCCACTC 0.373000 13 77 0 0 1 0 0 UGT1A3 0 broad.mit.edu 37 2 234637991 234637991 + Missense_Mutation SNP C C A TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr2:234637991C>A ENST00000482026.1 + 1 238 c.219C>A c.(217-219)aaC>aaA p.N73K UGT1A9_ENST00000354728.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron NM_019093.2 NP_061966.1 breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 46 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599) AAGAAGAGAACTTTTTCACCC 0.517000 8 644 5.18039e-06 5.31946e-06 1 1 0 KCNQ4 9132 broad.mit.edu 37 1 41284263 41284263 + Missense_Mutation SNP C C T TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr1:41284263C>T ENST00000347132.5 + 4 701 c.619C>T c.(619-621)Cgc>Tgc p.R207C KCNQ4_ENST00000509682.2_Missense_Mutation_p.R207C NM_004700.3|NM_172163.2 NP_004691.2|NP_751895.1 P56696 KCNQ4_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 4 207 sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1) 26 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) GCGCAGCATGCGCTTCCTGCA 0.682000 5 199 0 0 1 0 0 LNX2 0 broad.mit.edu 37 13 28127529 28127529 + Missense_Mutation SNP G G A TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr13:28127529G>A ENST00000316334.3 - 8 1723 c.1594C>T c.(1594-1596)Cac>Tac p.H532Y NM_153371.3 NP_699202.1 Q8N448 LNX2_HUMAN ligand of numb-protein X 2 532 PDZ 3. zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 31 Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248) GCCTCACTGTGACTTAAATTG 0.473000 83 410 0 0 1 0 0 DGUOK 1716 broad.mit.edu 37 2 74184338 74184338 + Silent SNP C C T TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr2:74184338C>T ENST00000264093.4 + 5 763 c.678C>T c.(676-678)caC>caT p.H226H DGUOK-AS1_ENST00000453103.1_RNA|DGUOK_ENST00000462685.1_Intron|DGUOK_ENST00000348222.1_Intron|DGUOK_ENST00000356837.6_Silent_p.H204H NM_080916.2 NP_550438.1 Q16854 DGUOK_HUMAN deoxyguanosine kinase 226 guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage mitochondrial matrix ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 8 ATGGCCAACACGAAGCCTGGC 0.478000 38 187 0 0 1 0 0 RING1 6015 broad.mit.edu 37 6 33180151 33180151 + Missense_Mutation SNP A A G TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr6:33180151A>G ENST00000374656.4 + 7 1404 c.1196A>G c.(1195-1197)tAt>tGt p.Y399C RING1_ENST00000478431.1_3'UTR NM_002931.3 NP_002922.2 Q06587 RING1_HUMAN ring finger protein 1 399 Necessary for interaction with CBX2 (By similarity). histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear speck|PcG protein complex protein binding|zinc ion binding endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4) 17 GAGCTGTGCTATGCTCCCACC 0.577000 10 34 0 0 1 0 0 FAM213A 84293 broad.mit.edu 37 10 82182230 82182230 + Missense_Mutation SNP C C T TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr10:82182230C>T ENST00000372181.1 + 2 706 c.236C>T c.(235-237)gCc>gTc p.A79V FAM213A_ENST00000372188.1_Missense_Mutation_p.A79V|FAM213A_ENST00000372187.5_Missense_Mutation_p.A79V|FAM213A_ENST00000372185.1_Missense_Mutation_p.A68V NM_001243778.1|NM_001243782.1 NP_001230707.1|NP_001230711.1 Q9BRX8 CJ058_HUMAN family with sequence similarity 213, member A 79 extracellular region GTGATTATGGCCGTGCGGAGG 0.488000 5 349 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52384793 52384793 + Missense_Mutation SNP G G A TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr8:52384793G>A ENST00000356297.4 - 8 866 c.766C>T c.(766-768)Cgg>Tgg p.R256W PXDNL_ENST00000543296.1_Missense_Mutation_p.R256W NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 256 Ig-like C2-type 1. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CCTTCCGCCCGGCAGGTGAAG 0.443000 6 660 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150911268 150911268 + Missense_Mutation SNP C C T TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr5:150911268C>T ENST00000261800.5 - 13 9703 c.9691G>A c.(9691-9693)Gcc>Acc p.A3231T NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 3231 Cadherin 29. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCAGGTGGGGCGTCCTCGGGC 0.677000 44 225 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78790148 78790148 + Missense_Mutation SNP G G A rs68105355 TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr9:78790148G>A ENST00000376767.3 + 14 2515 c.2003G>A c.(2002-2004)gGa>gAa p.G668E PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 aaatggaatggaatgaaatgg 0.413000 4 114 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27106165 27106165 + Frame_Shift_Del DEL G G - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr1:27106165delG ENST00000324856.7 + 20 6147 c.5776delG c.(5776-5778)gafs p.G1926fs ARID1A_ENST00000540690.1_Frame_Shift_Del_p.G254fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.G1709fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.G1543fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1926 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GACCGAGGATGGAGCTAAGAG 0.537 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 177 612 --- --- --- --- ANKRD35 148741 broad.mit.edu 37 1 145562117 145562117 + Frame_Shift_Del DEL A A - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr1:145562117delA ENST00000355594.4 + 10 1892 c.1805delA c.(1804-1806)gafs p.E602fs NM_144698.3 NP_653299.3 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 602 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CTTGGAGGGGAAAAGGCCCTA 0.577 9 619 --- --- --- --- MCL1 4170 broad.mit.edu 37 1 150551492 150551494 + In_Frame_Del DEL TCC TCC - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr1:150551492_150551494delTCC ENST00000369026.2 - 1 572_574 c.513_515delGGA c.(511-516)gac>ga p.ED171del MCL1_ENST00000307940.3_In_Frame_Del_p.ED171del NM_001197320.1|NM_021960.4 NP_001184249.1|NP_068779.1 Q07820 MCL1_HUMAN myeloid cell leukemia sequence 1 (BCL2-related) 171 PEST-like. anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nucleoplasm BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity endometrium(2)|large_intestine(1)|lung(4)|prostate(1) 8 all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GTACAACTCGTCCTCCTCCTCCT 0.635 9 643 --- --- --- --- REN 5972 broad.mit.edu 37 1 204135375 204135377 + In_Frame_Del DEL AGC AGC - rs142739309 TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr1:204135375_204135377delAGC ENST00000367195.2 - 1 88_90 c.45_47delGCT c.(43-48)ctc>ct p.LL15del REN_ENST00000272190.8_In_Frame_Del_p.LL15del P00797 RENI_HUMAN renin 15 angiotensin maturation|regulation of MAPKKK cascade extracellular space|membrane aspartic-type endopeptidase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1) 19 all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) Aliskiren(DB01258)|Remikiren(DB00212) GGAGCCCCAGAGCAGCAGCAGCA 0.581 7 750 --- --- --- --- KIF3C 3797 broad.mit.edu 37 2 26203464 26203466 + In_Frame_Del DEL GTT GTT - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr2:26203464_26203466delGTT ENST00000264712.3 - 1 1900_1902 c.1321_1323delAAC c.(1321-1323)del p.N441del KIF3C_ENST00000405914.1_In_Frame_Del_p.N441del NM_002254.6 NP_002245.4 O14782 KIF3C_HUMAN kinesin family member 3C 441 Poly-Asn. blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCGGGCGGTGGTTGTTGTTGTTG 0.621 7 1119 --- --- --- --- AC007403.2 0 broad.mit.edu 37 2 67139780 67139781 + RNA DEL AC AC - rs72445228 TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr2:67139780_67139781delAC ENST00000426260.1 + 0 34 AATGATCcatacacacacacac 0.411 2 4 --- --- --- --- AC079896.1 0 broad.mit.edu 37 2 82230473 82230474 + RNA DEL AC AC - rs66478974 TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr2:82230473_82230474delAC ENST00000455845.1 - 0 139 CCCAAAAACTacacacacacac 0.356 4 5 --- --- --- --- MRPL35 51318 broad.mit.edu 37 2 86433365 86433366 + Frame_Shift_Ins INS - - A TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr2:86433365_86433366insA ENST00000337109.4 + 2 214_215 c.180_181insA c.(178-183)ctccacfs p.H61fs MRPL35_ENST00000605125.1_Frame_Shift_Ins_p.H61fs|MRPL35_ENST00000409180.1_Frame_Shift_Ins_p.H61fs|MRPL35_ENST00000254644.8_Frame_Shift_Ins_p.H61fs NM_016622.3 NP_057706.2 Q9NZE8 RM35_HUMAN mitochondrial ribosomal protein L35 61 translation mitochondrial ribosome structural constituent of ribosome cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2) 14 CTCCCAGACTTACCACATCTGA 0.406 169 905 --- --- --- --- ANKRD36C 400986 broad.mit.edu 37 2 96525717 96525718 + Frame_Shift_Ins INS - - T rs77057279 by1000genomes TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr2:96525717_96525718insT ENST00000456556.1 - 61 3871_3872 c.3787_3788insA c.(3787-3789)gaafs p.E1263fs ANKRD36C_ENST00000420871.2_Frame_Shift_Ins_p.E514fs|ANKRD36C_ENST00000419039.2_Frame_Shift_Ins_p.E290fs ankyrin repeat domain 36C breast(1)|endometrium(8)|kidney(5)|lung(4) 18 CTTATTTTTCAGTTTTCGAATT 0.282 4 6 --- --- --- --- RBM43 375287 broad.mit.edu 37 2 152112048 152112048 + Splice_Site DEL T T - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr2:152112048delT ENST00000331426.5 - 2 364 c.214_splice c.e2+1 p.K71_splice NM_198557.2 NP_940959.1 Q6ZSC3 RBM43_HUMAN RNA binding motif protein 43 71 RRM. nucleotide binding|RNA binding endometrium(2)|large_intestine(3)|lung(2)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(221;0.131) TGGAAATACCTTTTTTTTCTT 0.289 7 852 --- --- --- --- SCN9A 6335 broad.mit.edu 37 2 167055992 167055992 + Frame_Shift_Del DEL T T - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr2:167055992delT ENST00000375387.4 - 27 5500 c.5160delA c.(5158-5160)aafs p.K1720fs AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Frame_Shift_Del_p.K1708fs|SCN9A_ENST00000303354.6_Frame_Shift_Del_p.K1720fs|SCN9A_ENST00000409435.1_Frame_Shift_Del_p.K1719fs Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1719 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) CAGGATGAACTTTTTTTGGGT 0.423 7 1889 --- --- --- --- PPIG 9360 broad.mit.edu 37 2 170493804 170493804 + Frame_Shift_Del DEL A A - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr2:170493804delA ENST00000260970.3 + 14 2256 c.2036delA c.(2035-2037)gafs p.E679fs PPIG_ENST00000448752.2_Frame_Shift_Del_p.E679fs|PPIG_ENST00000409714.3_Frame_Shift_Del_p.E664fs NM_004792.2 NP_004783.2 Q13427 PPIG_HUMAN peptidylprolyl isomerase G (cyclophilin G) 679 protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) AACAGCAGGGAAAAAAAGGCT 0.358 7 451 --- --- --- --- ENTPD3-AS1 0 broad.mit.edu 37 3 40418568 40418568 + RNA DEL A A - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr3:40418568delA ENST00000439293.1 - 0 143 ggaaggaaggaaagggaaggg 0.547 8 29 --- --- --- --- RP11-167H9.4 0 broad.mit.edu 37 3 149784483 149784485 + RNA DEL GAG GAG - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr3:149784483_149784485delGAG ENST00000487840.1 + 0 46 ggaggaggaagaggaggaggagg 0.389 2 4 --- --- --- --- TNIK 23043 broad.mit.edu 37 3 170783996 170783996 + Frame_Shift_Del DEL G G - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr3:170783996delG ENST00000436636.2 - 32 4323 c.3979delC c.(3979-3981)tafs p.L1327fs TNIK_ENST00000538048.1_Frame_Shift_Del_p.L1279fs|TNIK_ENST00000470834.1_Frame_Shift_Del_p.L1290fs|TNIK_ENST00000488470.1_Frame_Shift_Del_p.L1272fs|TNIK_ENST00000475336.1_Frame_Shift_Del_p.L1235fs|TNIK_ENST00000341852.6_Frame_Shift_Del_p.L1243fs|TNIK_ENST00000369326.5_Frame_Shift_Del_p.L1305fs|TNIK_ENST00000357327.5_Frame_Shift_Del_p.L1298fs|TNIK_ENST00000284483.8_Frame_Shift_Del_p.L1319fs|TNIK_ENST00000460047.1_Frame_Shift_Del_p.L1264fs NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 1327 CNH. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) CTTTCACATAGAAACTTTAAC 0.393 67 434 --- --- --- --- OTOP1 133060 broad.mit.edu 37 4 4204225 4204229 + Frame_Shift_Del DEL TTGAG TTGAG - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr4:4204225_4204229delTTGAG ENST00000296358.4 - 4 700_704 c.676_680delCTCAA c.(676-681)tfs p.LN226fs NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 226 biomineral tissue development extracellular space|integral to membrane p.L226fs*1(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTTGTGCTCATTGAGTTGGTGCTTT 0.502 10 753 --- --- --- --- RP11-83C7.2 0 broad.mit.edu 37 4 38510151 38510156 + RNA DEL ACACAC ACACAC - rs60752803 TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr4:38510151_38510156delACACAC ENST00000512517.1 - 0 78 TCACCCCAAAacacacacacacacac 0.447 4 5 --- --- --- --- BTC 685 broad.mit.edu 37 4 75681140 75681140 + Frame_Shift_Del DEL G G - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr4:75681140delG ENST00000395743.3 - 3 570 c.210delC c.(208-210)ccfs p.P70fs NM_001729.2 NP_001720.1 P35070 BTC_HUMAN betacellulin 70 EGF-like. positive regulation of cell division|positive regulation of cell proliferation extracellular space|integral to membrane|plasma membrane|soluble fraction epidermal growth factor receptor binding|growth factor activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 10 Lung(101;0.219) TGTATTGCTTGGGGCACCTAG 0.473 7 1362 --- --- --- --- PCDH10 57575 broad.mit.edu 37 4 134073569 134073571 + In_Frame_Del DEL CTG CTG - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr4:134073569_134073571delCTG ENST00000264360.4 + 1 3100_3102 c.2274_2276delCTG c.(2272-2277)ctc>ct p.LC758del NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 758 Cys-rich. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ATTGCTGCCTCTGCTGCTGCTGC 0.581 7 358 --- --- --- --- RP11-219G10.3 0 broad.mit.edu 37 4 189418894 189418895 + RNA DEL AC AC - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr4:189418894_189418895delAC ENST00000510832.1 + 0 617 CATCTGTTTTacacacacacac 0.376 4 6 --- --- --- --- CTC-419K13.1 0 broad.mit.edu 37 5 73804846 73804847 + RNA INS - - C rs145980478 by1000genomes TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr5:73804846_73804847insC ENST00000507781.1 - 0 307 actatgtgatacctgcaccacc 0.515 6 0 --- --- --- --- PCDHA9 0 broad.mit.edu 37 5 140230590 140230590 + Frame_Shift_Del DEL T T - rs17844337 TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr5:140230590delT ENST00000378122.3 + 1 3234 c.2510delT c.(2509-2511)atfs p.I837fs PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCCAGCAGATTTTTTTTCTG 0.279 11 1719 --- --- --- --- HMGB3P22 0 broad.mit.edu 37 5 179121146 179121151 + RNA DEL AAAAAA AAAAAA - rs10553251 TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr5:179121146_179121151delAAAAAA ENST00000442010.2 + 0 253 actccgtctcaaaaaaaaaaaaaaaa 0.485 7 61 --- --- --- --- PPP1R17 10842 broad.mit.edu 37 7 31735179 31735179 + Frame_Shift_Del DEL A A - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr7:31735179delA ENST00000342032.3 + 3 807 c.179delA c.(178-180)cafs p.Q60fs PPP1R17_ENST00000409146.3_Intron NM_006658.4 NP_006649.2 O96001 GSUB_HUMAN protein phosphatase 1, regulatory subunit 17 60 behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation soluble fraction GAGTCAGACCAAAAAAAACCA 0.438 7 869 --- --- --- --- TRGC2 0 broad.mit.edu 37 7 38284884 38284885 + RNA INS - - GG rs138091320 by1000genomes TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr7:38284884_38284885insGG ENST00000436911.2 - 0 330 TTATTTGTCAAGgtgtgtgtgt 0.391 40 716 --- --- --- --- AC003991.3 0 broad.mit.edu 37 7 87904916 87904917 + RNA DEL GT GT - rs67533133 by1000genomes TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr7:87904916_87904917delGT ENST00000600908.1 + 0 93 AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000594469.1_RNA CTCTCATGGGgtgtgtgtgtgt 0.406 3 5 --- --- --- --- TRBV7-1 0 broad.mit.edu 37 7 142032162 142032163 + RNA DEL GA GA - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr7:142032162_142032163delGA ENST00000547918.2 + 0 82 atgtgtgtgtgAGAGAGAGAGA 0.505 7 64 --- --- --- --- SFTPC 6440 broad.mit.edu 37 8 22020159 22020161 + In_Frame_Del DEL GTG GTG - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr8:22020159_22020161delGTG ENST00000521315.1 + 2 147_149 c.115_117delGTG c.(115-117)del p.V44del SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000524255.1_Intron P11686 PSPC_HUMAN surfactant protein C 44 respiratory gaseous exchange extracellular space autonomic_ganglia(1)|large_intestine(1)|lung(1) 3 Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) CCTTCTTATCGTGGTGGTGGTGG 0.601 8 892 --- --- --- --- OSR2 116039 broad.mit.edu 37 8 99961401 99961402 + Frame_Shift_Ins INS - - G TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr8:99961401_99961402insG ENST00000297565.4 + 2 717_718 c.221_222insG c.(220-222)ggcfs p.G74fs OSR2_ENST00000435298.2_Frame_Shift_Ins_p.G74fs|OSR2_ENST00000523368.1_Frame_Shift_Ins_p.G74fs|OSR2_ENST00000457907.2_Frame_Shift_Ins_p.G195fs|OSR2_ENST00000522510.1_Frame_Shift_Ins_p.G74fs NM_001142462.1 NP_001135934.1 Q8N2R0 OSR2_HUMAN odd-skipped related transciption factor 2 74 bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(36;4.14e-07) OV - Ovarian serous cystadenocarcinoma(57;0.0136) GAGATGGCGGCGGCGCAGGGCC 0.649 7 750 --- --- --- --- CTD-2552K11.2 0 broad.mit.edu 37 8 124657755 124657756 + RNA INS - - A rs140124215 by1000genomes TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr8:124657755_124657756insA ENST00000524355.1 + 0 244 aAAGAAGGGGGAAAGACAGAGA 0.485 10 6 --- --- --- --- XPA 7507 broad.mit.edu 37 9 100455962 100455964 + In_Frame_Del DEL TTC TTC - rs3176652 TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr9:100455962_100455964delTTC ENST00000375128.4 - 2 314_316 c.250_252delGAA c.(250-252)del p.E84del NM_000380.3 NP_000371.1 P23025 XPA_HUMAN xeroderma pigmentosum, complementation group A 84 Interaction with CEP164 and required for UV resistance.|Poly-Glu. nucleotide-excision repair, DNA damage removal nucleoplasm damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity p.E84*(1) breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1) 11 Acute lymphoblastic leukemia(62;0.158) CAATTTTCTGTTCTTCTTCTTCT 0.340 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 8 531 --- --- --- --- AGAP4 119016 broad.mit.edu 37 10 46342668 46342688 + In_Frame_Del DEL GCTCCTGCCATCCTGTCCCCA GCTCCTGCCATCCTGTCCCCA - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA ENST00000448048.2 - 1 233_253 c.108_128delTGGGGACAGGATGGCAGGAGC c.(106-129)gcg>gc p.AGDRMAGA36del AGAP4_ENST00000430779.2_5'UTR NM_133446.2 NP_597703.2 Q96P64 AGAP4_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 36 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.G37_A43delGDRMAGA(1) central_nervous_system(1)|lung(1)|ovary(1) 3 AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT 0.588 9 41 --- --- --- --- PRKG1-AS1 0 broad.mit.edu 37 10 54069065 54069066 + RNA INS - - TA rs71490737 by1000genomes TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr10:54069065_54069066insTA ENST00000420193.1 - 0 721 AAAACAACCTCcacacacacac 0.391 3 3 --- --- --- --- RP11-222A11.1 0 broad.mit.edu 37 10 67367559 67367559 + RNA DEL T T - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr10:67367559delT ENST00000433152.3 + 0 594 tctttctttctttttttcttt 0.393 6 12 --- --- --- --- PRF1 5551 broad.mit.edu 37 10 72358622 72358624 + In_Frame_Del DEL CTT CTT - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr10:72358622_72358624delCTT ENST00000441259.1 - 3 1013_1015 c.853_855delAAG c.(853-855)del p.K285del PRF1_ENST00000373209.2_In_Frame_Del_p.K285del NM_001083116.1|NM_005041.4 NP_001076585.1|NP_005032.2 P14222 PERF_HUMAN perforin 1 (pore forming protein) 285 MACPF. Missing (in FHL2). apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3) 23 TCATCTTGTGCTTCTTCTTCTTC 0.591 M """various leukaemia, lymphoma""" Type 2 familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis 9 647 --- --- --- --- ZNF503-AS1 0 broad.mit.edu 37 10 77089193 77089196 + RNA DEL CTTT CTTT - rs71024539 TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr10:77089193_77089196delCTTT ENST00000416398.1 + 0 262 RP11-399K21.11_ENST00000418818.2_lincRNA NR_038223.1 tccttccttcctttctttctttct 0.397 9 21 --- --- --- --- POLL 27343 broad.mit.edu 37 10 103345131 103345133 + In_Frame_Del DEL GGA GGA - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr10:103345131_103345133delGGA ENST00000370162.3 - 4 1007_1009 c.513_515delTCC c.(511-516)ccc>cc p.PP171del POLL_ENST00000370172.1_In_Frame_Del_p.PP83del|POLL_ENST00000299206.4_In_Frame_Del_p.PP171del|DPCD_ENST00000470165.1_Intron|POLL_ENST00000456836.2_Intron|DPCD_ENST00000416979.2_Intron|POLL_ENST00000339310.3_Intron|POLL_ENST00000436284.2_Intron|POLL_ENST00000370158.3_Intron|POLL_ENST00000370169.1_In_Frame_Del_p.PP171del NM_001174084.1|NM_001174085.1|NM_013274.3 NP_001167555.1|NP_001167556.1|NP_037406.1 Q9UGP5 DPOLL_HUMAN polymerase (DNA directed), lambda 171 DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) AGGCCTGGTGGGAGGAGGAGGAG 0.591 DNA polymerases (catalytic subunits) 7 573 --- --- --- --- NOLC1 9221 broad.mit.edu 37 10 103919000 103919002 + In_Frame_Del DEL AGC AGC - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr10:103919000_103919002delAGC ENST00000405356.1 + 6 893_895 c.658_660delAGC c.(658-660)del p.S227del NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del|NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 227 11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 31 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) tagcagcagtagcagcagcagca 0.517 9 1324 --- --- --- --- TSPAN4 0 broad.mit.edu 37 11 864443 864445 + In_Frame_Del DEL CTG CTG - rs61867552 byFrequency TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr11:864443_864445delCTG ENST00000397404.1 + 5 521_523 c.262_264delCTG c.(262-264)del p.L92del TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del NM_001025237.1 NP_001020408.1 O14817 TSN4_HUMAN tetraspanin 4 92 protein complex assembly integral to plasma membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACAGTTCTTCCTGCTGCTGCTGC 0.650 8 892 --- --- --- --- MICALCL 84953 broad.mit.edu 37 11 12316384 12316389 + In_Frame_Del DEL CTCCTA CTCCTA - rs3812754 byFrequency TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr11:12316384_12316389delCTCCTA ENST00000256186.2 + 3 1697_1702 c.1406_1411delCTCCTA c.(1405-1413)cca>c p.PPT469del NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 469 Poly-Pro. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding p.T471delT(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) cctcctcctcctcctACAGCGGGAGG 0.573 10 54 --- --- --- --- FADS2 9415 broad.mit.edu 37 11 61607885 61607887 + In_Frame_Del DEL TCC TCC - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr11:61607885_61607887delTCC ENST00000278840.4 + 3 1028_1030 c.398_400delTCC c.(397-402)ttc>t p.FL133del FADS2_ENST00000522056.1_In_Frame_Del_p.FL102del|FADS2_ENST00000521849.1_In_Frame_Del_p.FL133del|FADS2_ENST00000257261.6_In_Frame_Del_p.FL111del NM_004265.2 NP_004256.1 O95864 FADS2_HUMAN fatty acid desaturase 2 133 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction heme binding breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 Alpha-Linolenic Acid(DB00132) CACGTGTTCTTCCTCCTCCTCCT 0.537 7 1326 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738795 102738796 + RNA INS - - T rs33924686 by1000genomes TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr11:102738795_102738796insT ENST00000532855.1 - 0 725_726 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.N211fs*20(2) autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) AGGAACAAGTGGTGCCTAAGAA 0.416 10 53 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7080212 7080213 + RNA INS - - C rs36063533 TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr12:7080212_7080213insC ENST00000546220.1 + 0 157_158 U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding GAGGCCGTAGTTTATTGTGGTG 0.569 7 92 --- --- --- --- RP11-377D9.3 0 broad.mit.edu 37 12 13154583 13154583 + RNA DEL G G - rs75373880 TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr12:13154583delG ENST00000543321.1 + 0 31 HTR7P1_ENST00000535469.1_RNA TCTGCTGAGCGGGGGCCCCCG 0.731 6 9 --- --- --- --- OR10A7 121364 broad.mit.edu 37 12 55615114 55615116 + In_Frame_Del DEL CTT CTT - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr12:55615114_55615116delCTT ENST00000326258.1 + 1 306_308 c.306_308delCTT c.(304-309)tac>ta p.YF102del NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 CCCAGATGTACTTCTTCTTCTTC 0.414 8 1482 --- --- --- --- TPT1-AS1 0 broad.mit.edu 37 13 45964344 45964344 + RNA DEL A A - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr13:45964344delA ENST00000517509.1 + 0 1074 TPT1-AS1_ENST00000520585.1_RNA|TPT1-AS1_ENST00000519454.1_RNA|TPT1-AS1_ENST00000522673.1_RNA NR_024458.1 ATACTGAGCGAAAAACAATTT 0.358 8 33 --- --- --- --- RP11-248G5.8 0 broad.mit.edu 37 13 52783345 52783348 + RNA DEL TGTG TGTG - rs34078394 TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr13:52783345_52783348delTGTG ENST00000451298.1 - 0 1229 RP11-64P12.8_ENST00000606031.1_RNA AAAATTACACtgtgtgtgtgtgtg 0.402 3 5 --- --- --- --- RP11-363J20.1 0 broad.mit.edu 37 14 69655247 69655247 + RNA DEL T T - rs58288842 TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr14:69655247delT ENST00000554898.1 - 0 348 TCTCTCTCTCttttttttttt 0.483 3 6 --- --- --- --- ATG2B 55102 broad.mit.edu 37 14 96783571 96783572 + Frame_Shift_Ins INS - - T TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr14:96783571_96783572insT ENST00000359933.4 - 20 4013_4014 c.3120_3121insA c.(3118-3123)aatagafs p.NR1040fs NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 1040 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) TGAGAGTCTAATTTTTTTTTCC 0.371 7 477 --- --- --- --- RP11-638I2.4 0 broad.mit.edu 37 14 100696020 100696021 + RNA DEL GT GT - rs5810982 TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr14:100696020_100696021delGT ENST00000554537.1 - 0 85 CAgtgtgtgcgtgtgtgtgtgt 0.500 8 5 --- --- --- --- ADAL 161823 broad.mit.edu 37 15 43641114 43641115 + Frame_Shift_Ins INS - - A TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr15:43641114_43641115insA ENST00000422466.2 + 11 1217_1218 c.643_644insA c.(643-645)aaafs p.K215fs ADAL_ENST00000389651.4_Frame_Shift_Ins_p.K215fs|ADAL_ENST00000428046.3_Frame_Shift_Ins_p.K188fs|ADAL_ENST00000562188.1_Frame_Shift_Ins_p.K215fs Q6DHV7 ADAL_HUMAN adenosine deaminase-like 215 adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process adenosine deaminase activity|metal ion binding endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1) 7 all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;9.31e-07) GATTCCAAACCAAAAAAAAGAA 0.455 7 476 --- --- --- --- POLG 5428 broad.mit.edu 37 15 89876828 89876830 + In_Frame_Del DEL TGC TGC - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr15:89876828_89876830delTGC ENST00000268124.5 - 2 489_491 c.156_158delGCA c.(154-159)caa>ca p.QQ54del POLG_ENST00000442287.2_In_Frame_Del_p.QQ54del NM_001126131.1|NM_002693.2 NP_001119603.1|NP_002684.1 P54098 DPOG1_HUMAN polymerase (DNA directed), gamma 54 Poly-Gln. base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) aggctgctgttgctgctgctgct 0.690 DNA polymerases (catalytic subunits) 7 130 --- --- --- --- CTD-2536I1.1 0 broad.mit.edu 37 15 95835657 95835658 + RNA INS - - AC rs150479653 by1000genomes TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr15:95835657_95835658insAC ENST00000508732.2 - 0 271 NR_034095.1 TATAATATTATacacacacaca 0.361 3 5 --- --- --- --- CTD-2547E10.2 0 broad.mit.edu 37 16 21469994 21469994 + RNA DEL A A - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr16:21469994delA ENST00000520823.2 - 0 749 ACTGTACATTAAAAAAAAAAA 0.294 7 27 --- --- --- --- RP11-51O6.1 0 broad.mit.edu 37 16 61089302 61089302 + RNA DEL C C - rs80101907 TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr16:61089302delC ENST00000591758.1 - 0 566 GCttcttcttctttttttttt 0.244 7 194 --- --- --- --- ELMO3 79767 broad.mit.edu 37 16 67237464 67237484 + In_Frame_Del DEL TCATTGCCCCCTCCAAGCGGG TCATTGCCCCCTCCAAGCGGG - rs148378199 by1000genomes TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr16:67237464_67237484delTCATTGCCCCCTCCAAGCGGG ENST00000393997.2 + 19 2144_2164 c.2087_2107delTCATTGCCCCCTCCAAGCGGG c.(2086-2109)tag>t p.FIAPSKRE696del ELMO3_ENST00000477898.1_In_Frame_Del_p.FIAPSKRE530del|ELMO3_ENST00000360833.1_In_Frame_Del_p.FIAPSKRE679del NM_024712.3 NP_078988.2 Q96BJ8 ELMO3_HUMAN engulfment and cell motility 3 643 apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) TACCTCAACTTCATTGCCCCCTCCAAGCGGGAGGTGAGTGT 0.629 28 436 --- --- --- --- FXR2 9513 broad.mit.edu 37 17 7495872 7495874 + In_Frame_Del DEL CGG CGG - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr17:7495872_7495874delCGG ENST00000250113.7 - 15 2107_2109 c.1773_1775delCCG c.(1771-1776)cgt>cg p.RR591del MPDU1_ENST00000423172.2_3'UTR NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 591 Poly-Arg. R -> P (in dbSNP:rs36013555). cytosolic large ribosomal subunit protein binding|RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) ACCACGGTTACGGCGGCGGCGGC 0.547 9 1888 --- --- --- --- CHD3 1107 broad.mit.edu 37 17 7801857 7801859 + In_Frame_Del DEL AAG AAG - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr17:7801857_7801859delAAG ENST00000380358.4 + 13 2273_2275 c.2272_2274delAAG c.(2272-2274)del p.K762del CHD3_ENST00000358181.4_In_Frame_Del_p.K703del|CHD3_ENST00000330494.7_In_Frame_Del_p.K703del NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 703 Helicase ATP-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) CCGCAAGTATAAGAAGAAGAAGA 0.488 7 483 --- --- --- --- MYOCD 93649 broad.mit.edu 37 17 12647692 12647694 + In_Frame_Del DEL CAG CAG - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr17:12647692_12647694delCAG ENST00000425538.1 + 8 1110_1112 c.910_912delCAG c.(910-912)del p.Q310del MYOCD_ENST00000395988.1_In_Frame_Del_p.Q214del|MYOCD_ENST00000343344.4_In_Frame_Del_p.Q310del NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 310 Gln-rich. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AATCCTCAGCcagcagcagcagc 0.596 12 281 --- --- --- --- FAM210A 125228 broad.mit.edu 37 18 13681751 13681751 + Frame_Shift_Del DEL T T - rs143162930 TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr18:13681751delT ENST00000322247.3 - 3 713 c.326delA c.(325-327)agfs p.K109fs FAM210A_ENST00000402563.1_Frame_Shift_Del_p.K109fs|FAM210A_ENST00000588475.1_5'UTR NM_001098801.1 NP_001092271.1 Q96ND0 CR019_HUMAN family with sequence similarity 210, member A 109 integral to membrane p.K109fs*29(1) AGGCTCTTCCTTTTTTTCCGG 0.433 8 960 --- --- --- --- CTC-512J12.4 0 broad.mit.edu 37 19 44917435 44917436 + RNA INS - - TCCG TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr19:44917435_44917436insTCCG ENST00000588655.1 - 0 488 TTCtccttccttctttccttcc 0.416 7 42 --- --- --- --- RSPH6A 81492 broad.mit.edu 37 19 46299165 46299167 + In_Frame_Del DEL CCT CCT - rs62639328 byFrequency TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr19:46299165_46299167delCCT ENST00000221538.3 - 6 2256_2258 c.2114_2116delAGG c.(2113-2118)ggc>g p.EG705del RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 705 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 tcctcctcgccctcctcctcctc 0.586 10 1108 --- --- --- --- NAPSA 9476 broad.mit.edu 37 19 50868836 50868838 + In_Frame_Del DEL GCA GCA - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr19:50868836_50868838delGCA ENST00000253719.2 - 1 249_251 c.41_43delTGC c.(40-45)cct>c p.LP14del NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron NM_004851.1 NP_004842.1 O96009 NAPSA_HUMAN napsin A aspartic peptidase 14 proteolysis extracellular region aspartic-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183) TTcagcagaggcagcagcagcag 0.596 7 203 --- --- --- --- LILRB2 0 broad.mit.edu 37 19 54780707 54780709 + In_Frame_Del DEL GAG GAG - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr19:54780707_54780709delGAG ENST00000391748.1 - 10 1559_1561 c.1432_1434delCTC c.(1432-1434)del p.L478del LILRB2_ENST00000391749.4_In_Frame_Del_p.L479del|LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 479 cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity p.L479L(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ggatgaggaagaggaggaggagg 0.611 10 825 --- --- --- --- RPL23AP79 0 broad.mit.edu 37 19 59091278 59091279 + RNA INS - - TTCC rs10674364 TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr19:59091278_59091279insTTCC ENST00000493504.1 + 0 129 NR_026052.1 CTCTATTttctttccttccttc 0.446 8 20 --- --- --- --- SLC23A2 9962 broad.mit.edu 37 20 4850569 4850569 + Frame_Shift_Del DEL G G - rs138961929 TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr20:4850569delG ENST00000379333.1 - 12 1625 c.1233delC c.(1231-1233)ccfs p.P411fs SLC23A2_ENST00000424750.2_Frame_Shift_Del_p.P297fs|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Frame_Shift_Del_p.P411fs NM_203327.1 NP_976072.1 Q9UGH3 S23A2_HUMAN solute carrier family 23 (ascorbic acid transporter), member 2 411 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity p.I412fs*4(1) endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 TTGCGTGGATGGGGGGGGGTG 0.527 20 619 --- --- --- --- ZHX3 23051 broad.mit.edu 37 20 39832962 39832962 + Frame_Shift_Del DEL T T - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr20:39832962delT ENST00000309060.3 - 4 1010 c.595delA c.(595-597)ttfs p.I199fs ZHX3_ENST00000432768.2_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000544979.2_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000540170.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000557816.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000560361.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000559234.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000558993.1_Frame_Shift_Del_p.I199fs Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 199 negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) AGTGTATGAATTTTTTTGGCT 0.488 8 847 --- --- --- --- APP 351 broad.mit.edu 37 21 27394182 27394184 + In_Frame_Del DEL GTG GTG - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr21:27394182_27394184delGTG ENST00000358918.3 - 6 1036_1038 c.837_839delCAC c.(835-840)aca>ac p.TT279del APP_ENST00000440126.3_In_Frame_Del_p.TT274del|APP_ENST00000474136.1_5'UTR|APP_ENST00000359726.3_In_Frame_Del_p.TT279del|APP_ENST00000357903.3_In_Frame_Del_p.TT279del|APP_ENST00000354192.3_In_Frame_Del_p.TT223del|APP_ENST00000439274.2_In_Frame_Del_p.TT223del|APP_ENST00000348990.5_In_Frame_Del_p.TT279del|APP_ENST00000448388.2_In_Frame_Del_p.TT244del|APP_ENST00000346798.3_In_Frame_Del_p.TT279del NM_001204301.1|NM_001204302.1 NP_001191230.1|NP_001191231.1 P05067 A4_HUMAN amyloid beta (A4) precursor protein 279 Poly-Thr. adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(209;0.00295) CACAGACTCTgtggtggtggtgg 0.522 7 333 --- --- --- --- SLC5A3 6526 broad.mit.edu 37 21 35467569 35467569 + Frame_Shift_Del DEL T T - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr21:35467569delT ENST00000381151.3 + 2 584 c.72delT c.(70-72)ggfs p.G24fs MRPS6_ENST00000399312.2_Intron NM_006933.4 NP_008864.3 P53794 SC5A3_HUMAN solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 24 Implicated in sodium coupling (By similarity). integral to plasma membrane myo-inositol:sodium symporter activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 20 TGTGCATTGGTTTTTTTGCCA 0.468 7 972 --- --- --- --- TRAPPC10 7109 broad.mit.edu 37 21 45472274 45472275 + Frame_Shift_Ins INS - - A rs149217788 byFrequency TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr21:45472274_45472275insA ENST00000291574.4 + 4 574_575 c.399_400insA c.(397-402)aaaaaafs p.KK133fs TRAPPC10_ENST00000380221.3_Frame_Shift_Ins_p.KK133fs NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 133 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity p.K133N(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 ATGATGCCAAGAAAAAAAACAA 0.356 9 706 --- --- --- --- LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661170 22661170 + RNA DEL T T - rs58170086 TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr22:22661170delT ENST00000426066.1 + 0 262 NR_027293.1 AGCATACAGGTTTTCCCCCCC 0.403 8 177 --- --- --- --- TFIP11 24144 broad.mit.edu 37 22 26906183 26906185 + In_Frame_Del DEL TCA TCA - rs145794160 byFrequency TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr22:26906183_26906185delTCA ENST00000407690.1 - 4 337_339 c.54_56delTGA c.(52-57)gac>ga p.DD18del TFIP11_ENST00000407431.1_In_Frame_Del_p.DD18del|TFIP11_ENST00000407148.1_In_Frame_Del_p.DD18del|TFIP11_ENST00000405938.1_In_Frame_Del_p.DD18del NM_012143.2 NP_036275.1 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 18 Poly-Asp. biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 CTCCCGCTCGTCATCATCATCAT 0.532 9 612 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610776 42610778 + In_Frame_Del DEL TGC TGC - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chr22:42610776_42610778delTGC ENST00000359486.3 - 1 670_672 c.534_536delGCA c.(532-537)caa>ca p.QQ178del TCF20_ENST00000335626.4_In_Frame_Del_p.QQ178del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 178 Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 CTGCTGGACTTGCTGCTGCTGCT 0.571 10 565 --- --- --- --- PHF8 23133 broad.mit.edu 37 X 54011405 54011407 + In_Frame_Del DEL CTC CTC - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chrX:54011405_54011407delCTC ENST00000338154.6 - 18 2887_2889 c.2383_2385delGAG c.(2383-2385)del p.E795del PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del NM_015107.2 NP_055922.1 Q9UPP1 PHF8_HUMAN PHD finger protein 8 831 Ser-rich. brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 40 GACTGGCGTTCTCCTCCTCCTCC 0.591 9 524 --- --- --- --- RNA5-8SP6 0 broad.mit.edu 37 Y 10037863 10037863 + RNA DEL C C - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx f015222f-24cd-4c16-8b94-af45b261e907 6207d556-6646-4a17-bb29-e80c8052e2af g.chrY:10037863delC ENST00000515896.1 + 0 100 ATCGACACTTCGAACGCACTT 0.552 7 91 --- --- --- ---