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 SCAF11 9169 broad.mit.edu 37 12 46326990 46326990 + Missense_Mutation SNP T T C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr12:46326990T>C ENST00000369367.3 - 9 891 c.658A>G c.(658-660)Atc>Gtc p.I220V SCAF11_ENST00000419565.2_Missense_Mutation_p.I220V|SCAF11_ENST00000549162.1_Missense_Mutation_p.I28V NM_004719.2 NP_004710.2 Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 220 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 AATGCACTGATTTCACTGGCT 0.308000 12 42 0 0 0.001855 0 0 PROX1 5629 broad.mit.edu 37 1 214171226 214171226 + Missense_Mutation SNP C C A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr1:214171226C>A ENST00000366958.4 + 2 1956 c.1348C>A c.(1348-1350)Cag>Aag p.Q450K PROX1_ENST00000435016.1_Missense_Mutation_p.Q450K|PROX1_ENST00000498508.2_Missense_Mutation_p.Q450K|PROX1_ENST00000261454.4_Missense_Mutation_p.Q450K NM_001270616.1 NP_001257545.1 Q92786 PROX1_HUMAN prospero homeobox 1 450 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) CTCCTCTGACCAGTCTGCCTC 0.642000 32 71 6.38683e-12 3.53732e-11 0.001512 1 0 OBSCN 84033 broad.mit.edu 37 1 228437860 228437860 + Nonsense_Mutation SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr1:228437860C>T ENST00000570156.2 + 15 4578 c.4504C>T c.(4504-4506)Cag>Tag p.Q1502* OBSCN_ENST00000284548.11_Nonsense_Mutation_p.Q1410*|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.Q1410* NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 480 Ig-like 15. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCTGGTGGTGCAGCAGGCATG 0.647000 41 92 0 0 0.001706 0 0 LIMCH1 22998 broad.mit.edu 37 4 41699182 41699182 + Missense_Mutation SNP G G T rs142431467 TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr4:41699182G>T ENST00000313860.7 + 27 3286 c.3232G>T c.(3232-3234)Ggg>Tgg p.G1078W LIMCH1_ENST00000512632.1_Missense_Mutation_p.G975W|LIMCH1_ENST00000514096.1_Missense_Mutation_p.G892W|LIMCH1_ENST00000512946.1_Missense_Mutation_p.G1052W|LIMCH1_ENST00000509277.1_Missense_Mutation_p.G911W|LIMCH1_ENST00000508501.1_Missense_Mutation_p.G1051W|LIMCH1_ENST00000396595.3_Missense_Mutation_p.G897W|LIMCH1_ENST00000503057.1_Missense_Mutation_p.G1462W|LIMCH1_ENST00000381753.4_Missense_Mutation_p.G885W|LIMCH1_ENST00000512820.1_Missense_Mutation_p.G1064W|LIMCH1_ENST00000511496.1_Missense_Mutation_p.G892W|LIMCH1_ENST00000515785.1_3'UTR|LIMCH1_ENST00000513024.1_Missense_Mutation_p.G905W NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 1078 actomyosin structure organization actin binding|zinc ion binding p.G1462R(1)|p.G1078R(1)|p.G1462W(1)|p.G1078W(1) central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 CACAGGTGCCGGGCAGCCTAC 0.453000 21 71 7.88262e-20 4.68082e-19 0.003330 1 0 UNC5C 8633 broad.mit.edu 37 4 96141216 96141216 + Missense_Mutation SNP C C T rs150089453 TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr4:96141216C>T ENST00000453304.1 - 8 1568 c.1220G>A c.(1219-1221)cGt>cAt p.R407H UNC5C_ENST00000506749.1_Missense_Mutation_p.R426H NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 407 apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) CTCAAAGTCACGATGATTCTT 0.458000 20 44 0 0 0.000958 0 0 ZNF829 374899 broad.mit.edu 37 19 37382576 37382576 + Missense_Mutation SNP T T C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr19:37382576T>C ENST00000520965.1 - 6 1426 c.1360A>G c.(1360-1362)Atc>Gtc p.I454V ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000391711.3_Missense_Mutation_p.I373V|ZNF345_ENST00000526123.1_Intron NM_001171979.1 NP_001165450.1 Q3KNS6 ZN829_HUMAN zinc finger protein 829 373 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCTGTATGGATTCTCTGATGT 0.373000 9 19 0 0 0.004482 0 0 CACNA1E 777 broad.mit.edu 37 1 181767596 181767596 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr1:181767596G>A ENST00000526775.1 + 46 6547 c.6382G>A c.(6382-6384)Gag>Aag p.E2128K CACNA1E_ENST00000358338.5_Missense_Mutation_p.E2079K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E2147K|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E2171K|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E2190K|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E2141K|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E1754K NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2190 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TGATGGAAGCGAGGAGGGCTC 0.642000 23 50 0 0 0.003954 0 0 FN1 2335 broad.mit.edu 37 2 216240367 216240367 + Missense_Mutation SNP T T G TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr2:216240367T>G ENST00000354785.4 - 37 6331 c.5962A>C c.(5962-5964)Atc>Ctc p.I1988L FN1_ENST00000323926.6_Missense_Mutation_p.I1988L|FN1_ENST00000443816.1_Missense_Mutation_p.I1807L|FN1_ENST00000359671.1_Missense_Mutation_p.I1897L|FN1_ENST00000432072.2_Missense_Mutation_p.I1898L|FN1_ENST00000357867.4_Missense_Mutation_p.I1807L|FN1_ENST00000357009.2_Missense_Mutation_p.I1897L|FN1_ENST00000356005.4_Missense_Mutation_p.I1807L|FN1_ENST00000446046.1_Missense_Mutation_p.I1897L|FN1_ENST00000346544.3_Missense_Mutation_p.I1897L|FN1_ENST00000345488.5_Missense_Mutation_p.I1897L|FN1_ENST00000336916.4_Missense_Mutation_p.I1897L|FN1_ENST00000421182.1_Missense_Mutation_p.I1807L P02751 FINC_HUMAN fibronectin 1 1897 Binds to FBLN1.|Fibronectin type-III 15.|Heparin-binding 2. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAGGCGTCGATGACCACAGGG 0.428000 27 48 0 0 0.001271 0 0 CSNK2A2 1459 broad.mit.edu 37 16 58202514 58202514 + Splice_Site SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr16:58202514C>T ENST00000262506.3 - 6 696 c.513_splice c.e6+1 p.K171_splice CSNK2A2_ENST00000566813.1_5'UTR NM_001896.2 NP_001887.1 P19784 CSK22_HUMAN casein kinase 2, alpha prime polypeptide 171 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|nucleus ATP binding|protein N-terminus binding|protein serine/threonine kinase activity central_nervous_system(1) 1 GTAATGGTACCTTTTTCTGTT 0.463000 23 27 0 0 0.003330 0 0 INTS4P2 644619 broad.mit.edu 37 7 65157766 65157766 + RNA SNP C C G TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr7:65157766C>G ENST00000430126.2 + 0 1093 CAGATCACACCGTCAGGCACT 0.413000 5 147 0 0 0.000602 0 0 CPT1A 1374 broad.mit.edu 37 11 68562283 68562283 + Missense_Mutation SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr11:68562283C>T ENST00000265641.5 - 8 1022 c.868G>A c.(868-870)Gaa>Aaa p.E290K CPT1A_ENST00000539743.1_Missense_Mutation_p.E290K|CPT1A_ENST00000540367.1_Missense_Mutation_p.E290K|CPT1A_ENST00000538994.1_Missense_Mutation_p.E42K|CPT1A_ENST00000376618.2_Missense_Mutation_p.E290K NM_001876.3 NP_001867.2 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A (liver) 290 carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) GGTTTGATTTCCTCCCGGTCC 0.408000 32 66 0 0 0.002096 0 0 TMEM150B 284417 broad.mit.edu 37 19 55824419 55824419 + Silent SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr19:55824419G>A ENST00000326652.4 - 8 692 c.510C>T c.(508-510)atC>atT p.I170I TMEM150B_ENST00000438693.1_Silent_p.I170I A6NC51 T150B_HUMAN transmembrane protein 150B 170 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 CGTGGAGGACGATCACTGCCC 0.677000 6 7 0 0 0.001168 0 0 OR6T1 219874 broad.mit.edu 37 11 123813951 123813951 + Missense_Mutation SNP C C A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr11:123813951C>A ENST00000321252.2 - 1 629 c.595G>T c.(595-597)Gct>Tct p.A199S NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A199S(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) AGCATGAAAGCCACCAGTTTC 0.547000 23 45 2.21704e-12 1.23982e-11 0.002780 1 0 MYBPC2 4606 broad.mit.edu 37 19 50958379 50958379 + Missense_Mutation SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr19:50958379C>T ENST00000357701.5 + 19 2080 c.2029C>T c.(2029-2031)Cgg>Tgg p.R677W NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 677 Fibronectin type-III 1. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) CCTCGTAGAGCGGAAGAAGAA 0.572000 11 27 0 0 0.000673 0 0 SMAD5 4090 broad.mit.edu 37 5 135513140 135513140 + Missense_Mutation SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr5:135513140C>T ENST00000545279.1 + 9 1727 c.1367C>T c.(1366-1368)cCt>cTt p.P456L SMAD5_ENST00000545620.1_Missense_Mutation_p.P456L|SMAD5_ENST00000514641.2_3'UTR NM_001001419.1|NM_005903.5 NP_001001419.1|NP_005894.3 Q99717 SMAD5_HUMAN SMAD family member 5 457 MH2. BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytosol|integral to membrane|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding central_nervous_system(1)|large_intestine(4)|lung(3) 8 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ATGGGCTCCCCTCTGAACCCC 0.398000 5 12 0 0 0.000602 0 0 SULT2A1 6822 broad.mit.edu 37 19 48374806 48374806 + Missense_Mutation SNP T T G TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr19:48374806T>G ENST00000222002.3 - 6 903 c.764A>C c.(763-765)aAa>aCa p.K255T NM_003167.3 NP_003158.2 Q06520 ST2A1_HUMAN sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 255 3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process cytosol bile-salt sulfotransferase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552) GAAGTGATTTTTCCAGTCCCC 0.478000 3 58 0 0 0.004672 0 0 ANKRD32 84250 broad.mit.edu 37 5 94027884 94027884 + Missense_Mutation SNP T T C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr5:94027884T>C ENST00000265140.5 + 20 3037 c.2618T>C c.(2617-2619)gTg>gCg p.V873A NM_032290.3 NP_115666.2 Q9BQI6 ANR32_HUMAN ankyrin repeat domain 32 873 NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 13 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) CTCACTCAAGTGGACGGGGTG 0.493000 23 61 0 0 0.003330 0 0 CEP170 9859 broad.mit.edu 37 1 243333053 243333053 + Missense_Mutation SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr1:243333053C>T ENST00000366542.1 - 12 1771 c.1720G>A c.(1720-1722)Ggc>Agc p.G574S CEP170_ENST00000366544.1_Missense_Mutation_p.G476S|CEP170_ENST00000366543.1_Missense_Mutation_p.G476S NM_014812.2 NP_055627.2 Q5SW79 CE170_HUMAN centrosomal protein 170kDa 574 centriole|microtubule|spindle NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 62 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) GAAGATGTGCCTTCCTAAAGG 0.383000 6 20 0 0 0.004482 0 0 RUFY2 55680 broad.mit.edu 37 10 70138405 70138405 + Missense_Mutation SNP T T C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr10:70138405T>C ENST00000399200.2 - 12 1230 c.1126A>G c.(1126-1128)Act>Gct p.T376A RUFY2_ENST00000602465.1_Intron|RUFY2_ENST00000454950.2_Missense_Mutation_p.T352A|RUFY2_ENST00000388768.2_Intron NM_001042417.1 NP_001035882.1 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain containing 2 276 nucleus metal ion binding NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2) 20 ATTGTCCTAGTTTGAGTTAAC 0.353000 6 16 0 0 0.003080 0 0 PCDH20 64881 broad.mit.edu 37 13 61986231 61986231 + Silent SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr13:61986231G>A ENST00000409186.1 - 5 4106 c.2001C>T c.(1999-2001)gaC>gaT p.D667D PCDH20_ENST00000409204.4_Silent_p.D667D Q8N6Y1 PCD20_HUMAN protocadherin 20 640 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) TTCGTCCAGCGTCAGCATCTG 0.448000 29 49 0 0 0.001786 0 0 GALNT10 55568 broad.mit.edu 37 5 153789255 153789255 + Missense_Mutation SNP C C T rs147745456 TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr5:153789255C>T ENST00000297107.6 + 9 1456 c.1319C>T c.(1318-1320)aCg>aTg p.T440M SAP30L-AS1_ENST00000524264.1_RNA|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.T378M|GALNT10_ENST00000377657.3_Missense_Mutation_p.T113M NM_198321.3 NP_938080.1 Q86SR1 GLT10_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) 440 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 32 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) tggTTTATGACGAAGATAGCC 0.597000 35 81 0 0 0.003271 0 0 SPTBN5 51332 broad.mit.edu 37 15 42150939 42150939 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr15:42150939G>A ENST00000320955.6 - 49 8314 c.8087C>T c.(8086-8088)gCg>gTg p.A2696V NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 2696 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CCTCAGCCACGCAGCCACCTG 0.622000 6 7 0 0 0.001984 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 5 41 0 0 0.001984 0 0 BCMO1 53630 broad.mit.edu 37 16 81301576 81301576 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr16:81301576G>A ENST00000258168.2 + 6 1144 c.683G>A c.(682-684)cGc>cAc p.R228H BCMO1_ENST00000425577.2_Missense_Mutation_p.R159H NM_017429.2 NP_059125.2 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 1 228 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1) 23 ATCCCATCCCGCTCCCTGCTC 0.527000 27 48 0 0 0.004656 0 0 ZNF835 90485 broad.mit.edu 37 19 57175695 57175695 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr19:57175695G>A ENST00000537055.2 - 2 1103 c.872C>T c.(871-873)gCg>gTg p.A291V NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 GGTCAGGTGCGCGATCTGCGC 0.697000 6 9 0 0 0.001168 0 0 TP53 7157 broad.mit.edu 37 17 7578454 7578454 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr17:7578454G>A ENST00000420246.2 - 5 608 c.476C>T c.(475-477)gCc>gTc p.A159V TP53_ENST00000455263.2_Missense_Mutation_p.A159V|TP53_ENST00000445888.2_Missense_Mutation_p.A159V|TP53_ENST00000269305.4_Missense_Mutation_p.A159V|TP53_ENST00000413465.2_Missense_Mutation_p.A159V|TP53_ENST00000359597.4_Missense_Mutation_p.A159V NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 159 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.A159V(33)|p.0?(8)|p.A159D(7)|p.R158fs(6)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R26fs(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R158fs*11(1)|p.A66V(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.A27V(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GATGGCCATGGCGCGGACGCG 0.627000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 19 22 0 0 0.001882 0 0 TMEFF2 23671 broad.mit.edu 37 2 192922424 192922424 + Missense_Mutation SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr2:192922424C>T ENST00000392314.1 - 5 908 c.517G>A c.(517-519)Gaa>Aaa p.E173K TMEFF2_ENST00000272771.5_Missense_Mutation_p.E173K Q9UIK5 TEFF2_HUMAN transmembrane protein with EGF-like and two follistatin-like domains 2 173 extracellular region|integral to membrane breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.0835) TCGGCATCTTCGTCACATTCT 0.378000 24 43 0 0 0.003954 0 0 AP5M1 55745 broad.mit.edu 37 14 57741500 57741500 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr14:57741500G>A ENST00000261558.3 + 2 1019 c.613G>A c.(613-615)Gga>Aga p.G205R AP5M1_ENST00000431972.2_Missense_Mutation_p.G219R NM_018229.3 NP_060699.3 Q9H0R1 MUDEN_HUMAN adaptor-related protein complex 5, mu 1 subunit 205 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex GACGTACAAAGGAAAACCACA 0.373000 13 37 0 0 0.001368 0 0 GRPR 2925 broad.mit.edu 37 X 16168686 16168686 + Silent SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chrX:16168686G>A ENST00000380289.2 + 2 1070 c.672G>A c.(670-672)tcG>tcA p.S224S NM_005314.2 NP_005305.1 P30550 GRPR_HUMAN gastrin-releasing peptide receptor 224 cell proliferation integral to plasma membrane bombesin receptor activity p.S224S(1) central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3) 25 Hepatocellular(33;0.183) TTCCACTGTCGATCATCTCTG 0.438000 5 48 0 0 0.000602 0 0 ZNRD1 30834 broad.mit.edu 37 6 30029436 30029436 + Silent SNP C C A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr6:30029436C>A ENST00000332435.5 + 1 406 c.135C>A c.(133-135)atC>atA p.I45I ZNRD1_ENST00000359374.4_Silent_p.I45I|ZNRD1_ENST00000376782.2_Silent_p.I45I|ZNRD1_ENST00000376785.2_Silent_p.I45I|ZNRD1_ENST00000463141.1_3'UTR NM_170783.2 NP_740753.1 Q9P1U0 RPA12_HUMAN zinc ribbon domain containing 1 45 nucleolus DNA-directed RNA polymerase activity|nucleic acid binding|zinc ion binding GCTTCAACATCAACGTTCGGG 0.602000 14 68 6.31663e-08 3.33796e-07 0.003163 1 0 PLA2G4F 255189 broad.mit.edu 37 15 42437772 42437772 + Splice_Site SNP C C A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr15:42437772C>A ENST00000397272.3 - 16 1878 c.e16+1 PLA2G4F_ENST00000382396.4_Splice_Site NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) GCTACCCTCACCTGTGATATT 0.602000 17 102 5.35267e-07 2.7776e-06 0.000958 1 0 SH3PXD2B 285590 broad.mit.edu 37 5 171809084 171809084 + Silent SNP C C A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr5:171809084C>A ENST00000311601.5 - 5 527 c.357G>T c.(355-357)ctG>ctT p.L119L SH3PXD2B_ENST00000519643.1_Silent_p.L119L NM_001017995.2 NP_001017995.1 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 119 PX. adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CAAAGAACTGCAGCACCTCAT 0.582000 9 14 0.000978159 0.00473462 0.000978 1 0 COL6A6 131873 broad.mit.edu 37 3 130292872 130292872 + Missense_Mutation SNP A A C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr3:130292872A>C ENST00000358511.6 + 7 3081 c.3050A>C c.(3049-3051)aAg>aCg p.K1017T COL6A6_ENST00000453409.2_Missense_Mutation_p.K1017T NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1017 Nonhelical region.|VWFA 6. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 AATGACTTCAAGAAAATGAAG 0.408000 11 47 0 0 0.000978 0 0 GLI4 2738 broad.mit.edu 37 8 144358450 144358450 + Missense_Mutation SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr8:144358450C>T ENST00000340042.1 + 4 692 c.607C>T c.(607-609)Cgc>Tgc p.R203C GLI4_ENST00000523812.1_3'UTR|GLI4_ENST00000523522.1_Missense_Mutation_p.R203C|ZFP41_ENST00000522452.1_3'UTR NM_138465.3 NP_612474.1 P10075 GLI4_HUMAN GLI family zinc finger 4 203 nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(1)|lung(5) 9 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) GAAGCACCAGCGCATCCACAC 0.687000 6 15 0 0 0.001168 0 0 DRGX 644168 broad.mit.edu 37 10 50594749 50594749 + Missense_Mutation SNP C C G TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr10:50594749C>G ENST00000374139.2 - 4 400 c.390G>C c.(388-390)aaG>aaC p.K130N DRGX_ENST00000434016.1_Missense_Mutation_p.K135N C9JW76 C9JW76_HUMAN dorsal root ganglia homeobox 135 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 11 CCAGCGCCTCCTTCTTACTCC 0.642000 20 33 0 0 0.000958 0 0 OR5H2 79310 broad.mit.edu 37 3 98002593 98002593 + Missense_Mutation SNP C C G TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr3:98002593C>G ENST00000355273.2 + 1 862 c.862C>G c.(862-864)Cct>Gct p.P288A RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 AATCATAATTCCTTTGCTAAA 0.318000 12 46 0 0 0.000978 0 0 PPP1R13B 23368 broad.mit.edu 37 14 104206647 104206647 + Silent SNP G G C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr14:104206647G>C ENST00000202556.9 - 12 2388 c.2106C>G c.(2104-2106)ccC>ccG p.P702P PPP1R13B_ENST00000423488.2_Silent_p.P121P|PPP1R13B_ENST00000555391.1_5'UTR NM_015316.2 NP_056131.2 Q96KQ4 ASPP1_HUMAN protein phosphatase 1, regulatory subunit 13B 702 Pro-rich. apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) TCAGGGGCCGGGGCGCGTTGG 0.667000 40 92 0 0 0.001706 0 0 RAB3C 115827 broad.mit.edu 37 5 57913562 57913562 + Missense_Mutation SNP C C A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr5:57913562C>A ENST00000282878.4 + 2 286 c.117C>A c.(115-117)agC>agA p.S39R NM_138453.2 NP_612462.1 Q96E17 RAB3C_HUMAN RAB3C, member RAS oncogene family 39 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1) 21 all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664) OV - Ovarian serous cystadenocarcinoma(10;1.8e-34) TCGGCAATAGCAGTGTGGGGA 0.428000 12 41 0.000978159 0.00473462 0.000978 1 0 EPHA5 2044 broad.mit.edu 37 4 66361109 66361109 + Missense_Mutation SNP T T C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr4:66361109T>C ENST00000273854.3 - 4 1663 c.1063A>G c.(1063-1065)Aca>Gca p.T355A EPHA5_ENST00000511294.1_Missense_Mutation_p.T355A|EPHA5_ENST00000354839.4_Missense_Mutation_p.T355A|EPHA5_ENST00000432638.2_Intron NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 355 cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 TCCTTACTTGTGCATGCCATT 0.438000 TSP Lung(17;0.13) 62 87 0 0 0.003610 0 0 FAM66D 100132923 broad.mit.edu 37 8 11986736 11986736 + RNA SNP T T C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr8:11986736T>C ENST00000434078.2 + 0 608 NR_027425.1 TGCATCTGGCTGAGAAGATGT 0.507000 4 193 0 0 0.000248 0 0 FSCN3 29999 broad.mit.edu 37 7 127235813 127235813 + Missense_Mutation SNP G G C rs150163324 TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr7:127235813G>C ENST00000265825.5 + 2 816 c.597G>C c.(595-597)ttG>ttC p.L199F FSCN3_ENST00000420086.2_Missense_Mutation_p.L65F NM_020369.2 NP_065102.1 Q9NQT6 FSCN3_HUMAN fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) 199 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 ACCACTTCTTGTCCCATGTAG 0.562000 21 61 0 0 0.001523 0 0 INADL 10207 broad.mit.edu 37 1 62293185 62293185 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr1:62293185G>A ENST00000371158.2 + 16 2024 c.1910G>A c.(1909-1911)cGg>cAg p.R637Q INADL_ENST00000316485.6_Missense_Mutation_p.R637Q NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 637 PDZ 4. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 GTTTGCTGTCGGAGGTTGTTT 0.443000 40 129 0 0 0.001951 0 0 FGFR1 2260 broad.mit.edu 37 8 38283759 38283759 + Missense_Mutation SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr8:38283759C>T ENST00000447712.2 - 6 1567 c.626G>A c.(625-627)cGt>cAt p.R209H FGFR1_ENST00000356207.5_Missense_Mutation_p.R120H|FGFR1_ENST00000326324.6_Missense_Mutation_p.R118H|FGFR1_ENST00000341462.5_Missense_Mutation_p.R210H|FGFR1_ENST00000335922.5_Missense_Mutation_p.R201H|FGFR1_ENST00000532791.1_Missense_Mutation_p.R209H|FGFR1_ENST00000397103.1_Missense_Mutation_p.R118H|FGFR1_ENST00000425967.3_Missense_Mutation_p.R240H|FGFR1_ENST00000397108.4_Missense_Mutation_p.R207H|FGFR1_ENST00000397113.2_Missense_Mutation_p.R207H|FGFR1_ENST00000397091.5_Missense_Mutation_p.R207H NM_001174063.1|NM_015850.3|NM_023110.2 NP_001167534.1|NP_056934.2|NP_075598.2 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 209 Ig-like C2-type 2. axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) GGTGGCATAACGGACCTGAGG 0.542000 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 49 143 0 0 0.003610 0 0 KLHL1 57626 broad.mit.edu 37 13 70456525 70456525 + Nonsense_Mutation SNP C C A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr13:70456525C>A ENST00000377844.4 - 5 1876 c.1117G>T c.(1117-1119)Gaa>Taa p.E373* KLHL1_ENST00000545028.1_Nonsense_Mutation_p.E180* NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 373 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding p.E373*(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) AAGATGGTTTCTTCATCAGGA 0.418000 9 43 0.000274275 0.00136192 0.004482 1 0 LURAP1L 286343 broad.mit.edu 37 9 12775787 12775787 + Missense_Mutation SNP G G T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr9:12775787G>T ENST00000319264.3 + 1 768 c.73G>T c.(73-75)Gtg>Ttg p.V25L RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR NM_203403.1 NP_981948.1 Q8IV03 CI150_HUMAN leucine rich adaptor protein 1-like 25 CGAGAGTCTAGTGCGCTCTCT 0.647000 7 22 0.00198382 0.00944363 0.001984 1 0 SPATA2 9825 broad.mit.edu 37 20 48523004 48523004 + Missense_Mutation SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr20:48523004C>T ENST00000422556.1 - 3 1064 c.715G>A c.(715-717)Gcc>Acc p.A239T SPATA2_ENST00000543716.1_Missense_Mutation_p.A102T|SPATA2_ENST00000289431.5_Missense_Mutation_p.A239T NM_001135773.1 NP_001129245.1 Q9UM82 SPAT2_HUMAN spermatogenesis associated 2 239 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 20 Hepatocellular(150;0.133) BRCA - Breast invasive adenocarcinoma(9;4.03e-06) TAGTCCTTGGCCGCCCGCTCG 0.677000 17 35 0 0 0.004007 0 0 ST18 9705 broad.mit.edu 37 8 53055565 53055565 + Missense_Mutation SNP T T A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr8:53055565T>A ENST00000276480.7 - 17 2776 c.2093A>T c.(2092-2094)aAg>aTg p.K698M NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 698 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TCCAGGAAACTTTTTTTCCTC 0.428000 20 53 0 0 0.003330 0 0 HSPG2 3339 broad.mit.edu 37 1 22199894 22199894 + Missense_Mutation SNP T T C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr1:22199894T>C ENST00000374695.3 - 30 3846 c.3767A>G c.(3766-3768)aAc>aGc p.N1256S NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 1256 Laminin EGF-like 7. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CTGGCTGGGGTTGCCATAGTA 0.587000 17 95 0 0 0.001523 0 0 DOCK2 1794 broad.mit.edu 37 5 169474561 169474561 + Silent SNP C C A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr5:169474561C>A ENST00000256935.8 + 40 4094 c.4014C>A c.(4012-4014)ccC>ccA p.P1338P DOCK2_ENST00000540750.1_Silent_p.P399P|DOCK2_ENST00000520908.1_Silent_p.P830P|DOCK2_ENST00000523351.1_3'UTR NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1338 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCCTCAGGCCCAAACCAGACT 0.498000 10 45 0.000673444 0.00331542 0.000673 1 0 L1TD1 54596 broad.mit.edu 37 1 62672650 62672650 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr1:62672650G>A ENST00000498273.1 + 3 645 c.350G>A c.(349-351)gGg>gAg p.G117E NM_001164835.1|NM_019079.4 NP_001158307.1|NP_061952.3 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 117 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 gggatggtagggaaaatagaa 0.323000 17 78 0 0 0.001216 0 0 ECM1 1893 broad.mit.edu 37 1 150485926 150485926 + Missense_Mutation SNP G G C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr1:150485926G>C ENST00000369047.4 + 10 1731 c.1606G>C c.(1606-1608)Gag>Cag p.E536Q ECM1_ENST00000346569.6_Missense_Mutation_p.E411Q|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Missense_Mutation_p.E563Q NM_004425.3 NP_004416.2 Q16610 ECM1_HUMAN extracellular matrix protein 1 536 angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade proteinaceous extracellular matrix laminin binding|protease binding|protein C-terminus binding|signal transducer activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1) 22 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-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;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CTCCACCTCTGAGCCCAAGGA 0.562000 4 48 0 0 0.000248 0 0 ABCG4 64137 broad.mit.edu 37 11 119029297 119029297 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr11:119029297G>A ENST00000307417.3 + 11 1562 c.1198G>A c.(1198-1200)Gtg>Atg p.V400M ABCG4_ENST00000531739.1_Missense_Mutation_p.V400M|ABCG4_ENST00000449422.2_Missense_Mutation_p.V400M NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 400 ABC transmembrane type-2. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) CATGTCCCACGTGGTTATTGG 0.562000 57 156 0 0 0.003610 0 0 ADAM2 2515 broad.mit.edu 37 8 39624564 39624564 + Splice_Site SNP T T C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr8:39624564T>C ENST00000265708.4 - 14 1415 c.e14-2 ADAM2_ENST00000521880.1_Splice_Site|ADAM2_ENST00000347580.4_Splice_Site|ADAM2_ENST00000379853.2_Splice_Site NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TGACATAAACTGATGGGATGA 0.333000 31 60 0 0 0.001512 0 0 PRF1 5551 broad.mit.edu 37 10 72358804 72358804 + Missense_Mutation SNP G G A rs28933973 TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr10:72358804G>A ENST00000441259.1 - 3 833 c.673C>T c.(673-675)Cgg>Tgg p.R225W PRF1_ENST00000373209.2_Missense_Mutation_p.R225W NM_001083116.1|NM_005041.4 NP_001076585.1|NP_005032.2 P14222 PERF_HUMAN perforin 1 (pore forming protein) 225 MACPF. R -> W (in FHL2; dbSNP:rs28933973). 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 TCCACAGCCCGGATGAAGTGG 0.657000 M """various leukaemia, lymphoma""" Type 2 familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis 13 35 0 0 0.002450 0 0 RAC1 5879 broad.mit.edu 37 7 6426850 6426850 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr7:6426850G>A ENST00000348035.4 + 2 256 c.43G>A c.(43-45)Ggt>Agt p.G15S RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.G15S NM_006908.4 NP_008839.2 P63000 RAC1_HUMAN ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) 15 actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) TAGAGCTGTAGGTAAAACTTG 0.318000 23 70 0 0 0.004656 0 0 SDK2 54549 broad.mit.edu 37 17 71395327 71395327 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr17:71395327G>A ENST00000392650.3 - 22 3073 c.3073C>T c.(3073-3075)Cgc>Tgc p.R1025C SDK2_ENST00000388726.3_Missense_Mutation_p.R1025C NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1025 Fibronectin type-III 5. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 ACCAGCCAGCGGGAGATGGAG 0.632000 15 24 0 0 0.000958 0 0 RIMBP2 23504 broad.mit.edu 37 12 130912862 130912862 + Silent SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr12:130912862G>A ENST00000261655.4 - 12 2386 c.2223C>T c.(2221-2223)gaC>gaT p.D741D NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 741 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TGTGGTACTCGTCTCCATGGC 0.587000 28 54 0 0 0.001061 0 0 TNK2 10188 broad.mit.edu 37 3 195594350 195594350 + Missense_Mutation SNP G G C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr3:195594350G>C ENST00000333602.6 - 12 3391 c.2774C>G c.(2773-2775)aCc>aGc p.T925S TNK2_ENST00000428187.1_Missense_Mutation_p.T957S|TNK2_ENST00000381916.2_Missense_Mutation_p.T1003S|TNK2_ENST00000392400.1_Missense_Mutation_p.T925S NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 925 Pro-rich. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) GCTGTTGTTGGTGGAGAAGTT 0.751000 14 12 0 0 0.004007 0 0 SLC5A6 8884 broad.mit.edu 37 2 27430151 27430151 + Missense_Mutation SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr2:27430151C>T ENST00000310574.3 - 3 841 c.368G>A c.(367-369)cGc>cAc p.R123H SLC5A6_ENST00000408041.1_Missense_Mutation_p.R123H NM_021095.2 NP_066918.2 Q9Y289 SC5A6_HUMAN solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6 123 biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) GAGATGCAGGCGGTAGAAAAC 0.557000 14 29 0 0 0.003163 0 0 CSNK2B 1460 broad.mit.edu 37 6 31636415 31636415 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr6:31636415G>A ENST00000375880.2 + 4 393 c.275G>A c.(274-276)cGt>cAt p.R92H CSNK2B_ENST00000375885.4_Missense_Mutation_p.R111H|CSNK2B_ENST00000375882.2_Missense_Mutation_p.R92H|CSNK2B_ENST00000375866.2_Missense_Mutation_p.R92H|CSNK2B_ENST00000375865.2_Missense_Mutation_p.R92H CTTACCAACCGTGGCATCGCC 0.537000 21 35 0 0 0.002299 0 0 CHD2 1106 broad.mit.edu 37 15 93563349 93563349 + Missense_Mutation SNP G G T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr15:93563349G>T ENST00000394196.4 + 38 6082 c.5014G>T c.(5014-5016)Gac>Tac p.D1672Y CHD2_ENST00000557381.1_Missense_Mutation_p.D1672Y NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1672 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) CTGGTACAAGGACCACCATTA 0.527000 11 27 1.05317e-09 5.6694e-09 0.002450 1 0 COL16A1 1307 broad.mit.edu 37 1 32154663 32154663 + Silent SNP G G T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr1:32154663G>T ENST00000373672.3 - 24 2160 c.1644C>A c.(1642-1644)atC>atA p.I548I COL16A1_ENST00000271069.6_Silent_p.I548I|COL16A1_ENST00000373668.3_Silent_p.I548I NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 548 Triple-helical region 8 (COL8) with 1 imperfection. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) TCTCTCCTTTGATGCCTTGGA 0.592000 34 72 3.6622e-26 2.19732e-25 0.003755 1 0 DNMT3A 1788 broad.mit.edu 37 2 25469959 25469959 + Silent SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr2:25469959C>T ENST00000264709.3 - 9 1420 c.1083G>A c.(1081-1083)aaG>aaA p.K361K DNMT3A_ENST00000380746.4_Silent_p.K172K|DNMT3A_ENST00000402667.1_Silent_p.K138K|DNMT3A_ENST00000321117.5_Silent_p.K361K NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 361 Interaction with DNMT1 and DNMT3B. regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACATGGGCTGCTTGTTGTACG 0.597000 """Mis, F, N, S""" AML 16 26 0 0 0.004007 0 0 SYT10 341359 broad.mit.edu 37 12 33559823 33559823 + Silent SNP T T C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr12:33559823T>C ENST00000228567.3 - 3 1274 c.978A>G c.(976-978)agA>agG p.R326R SYT10_ENST00000535526.1_Silent_p.R145R NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 326 C2 1. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) TCATGTCATGTCTAGAAAATC 0.368000 19 30 0 0 0.006122 0 0 COPG1 22820 broad.mit.edu 37 3 128993713 128993713 + Silent SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr3:128993713C>T ENST00000314797.6 + 22 2393 c.2289C>T c.(2287-2289)caC>caT p.H763H NM_016128.3 NP_057212.1 Q9Y678 COPG_HUMAN coatomer protein complex, subunit gamma 1 763 Interaction with ZNF289/ARFGAP2. COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity TAGCTGATCACATTCAAAAGG 0.483000 100 85 0 0 0.003610 0 0 TMEM180 79847 broad.mit.edu 37 10 104229810 104229810 + Missense_Mutation SNP C C A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr10:104229810C>A ENST00000238936.4 + 4 466 c.229C>A c.(229-231)Cag>Aag p.Q77K TMEM180_ENST00000366277.2_5'UTR|TMEM180_ENST00000369931.3_Missense_Mutation_p.Q77K NM_024789.3 NP_079065.2 Q14CX5 TM180_HUMAN transmembrane protein 180 77 integral to membrane breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1) 13 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CAGTGACCGGCAGTTCCTCAG 0.592000 20 20 1.37657e-19 8.09083e-19 0.001882 1 0 KIAA1919 91749 broad.mit.edu 37 6 111583600 111583600 + Silent SNP C C A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr6:111583600C>A ENST00000368847.4 + 2 521 c.168C>A c.(166-168)gtC>gtA p.V56V NM_153369.2 NP_699200.2 Q5TF39 NAGT1_HUMAN KIAA1919 56 carbohydrate transport|sodium ion transport apical plasma membrane|integral to membrane symporter activity large_intestine(3)|lung(2)|ovary(4)|skin(3) 12 all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884) GATTTCTTGTCGATGTCATGA 0.348000 39 85 1.15505e-17 6.65308e-17 0.002222 1 0 KMT2B 9757 broad.mit.edu 37 19 36217142 36217142 + Silent SNP T T C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr19:36217142T>C ENST00000222270.7 + 14 3891 c.3891T>C c.(3889-3891)tgT>tgC p.C1297C KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Silent_p.C1297C NM_014727.1 NP_055542.1 CCCAGATCTGTTCAGCCTGTG 0.597000 5 32 0 0 0.000602 0 0 ZC3H18 124245 broad.mit.edu 37 16 88643837 88643837 + Silent SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr16:88643837C>T ENST00000301011.5 + 2 506 c.306C>T c.(304-306)gaC>gaT p.D102D ZC3H18_ENST00000452588.2_Silent_p.D102D NM_144604.3 NP_653205.3 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 102 nucleus nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) AGGAGGGGGACGAAGGGGAGG 0.617000 11 17 0 0 0.001368 0 0 CEACAM5 1048 broad.mit.edu 37 19 42224848 42224848 + Missense_Mutation SNP C C A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr19:42224848C>A ENST00000221992.6 + 8 1892 c.1778C>A c.(1777-1779)cCg>cAg p.P593Q CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.P592Q|CEACAM5_ENST00000405816.1_Missense_Mutation_p.P593Q NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 593 Ig-like 6. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CCAGATGGGCCGGACACCCCC 0.552000 33 141 2.80507e-11 1.53878e-10 0.002445 1 0 FGF13 2258 broad.mit.edu 37 X 137715118 137715118 + Missense_Mutation SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chrX:137715118C>T ENST00000315930.6 - 5 1292 c.631G>A c.(631-633)Gat>Aat p.D211N FGF13_ENST00000441825.2_Missense_Mutation_p.D192N|FGF13_ENST00000370603.3_Missense_Mutation_p.D221N|FGF13_ENST00000305414.4_Missense_Mutation_p.D158N|FGF13_ENST00000541469.1_Missense_Mutation_p.D165N NM_004114.3 NP_004105.1 Q92913 FGF13_HUMAN fibroblast growth factor 13 211 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 24 Acute lymphoblastic leukemia(192;0.000127) TCCGTGAGATCGTGCAGTGAT 0.483000 40 14 0 0 0.001485 0 0 XIST 7503 broad.mit.edu 37 X 73065142 73065142 + RNA SNP A A G TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chrX:73065142A>G ENST00000429829.1 - 0 7446 NR_001564.2 GGCCAGGAAAAGGGGCCTTGG 0.498000 3 107 0 0 0.000248 0 0 C7orf49 78996 broad.mit.edu 37 7 134853603 134853603 + Missense_Mutation SNP C C G TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr7:134853603C>G ENST00000430372.1 - 2 353 c.28G>C c.(28-30)Gaa>Caa p.E10Q C7orf49_ENST00000424142.1_5'UTR|C7orf49_ENST00000483029.2_Intron|C7orf49_ENST00000459937.1_5'UTR|C7orf49_ENST00000393114.3_Missense_Mutation_p.K24N NM_001243751.1|NM_024033.3 NP_001230680.1|NP_076938.2 Q9BWK5 MRI_HUMAN chromosome 7 open reading frame 49 133 cytoplasm endometrium(1)|large_intestine(4)|lung(1)|ovary(1) 7 GTGCCACATTCTTTGTAGCCA 0.532000 OREG0018340 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 134 0 0 0.001061 0 0 RBBP8 5932 broad.mit.edu 37 18 20555133 20555133 + Missense_Mutation SNP C C G TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr18:20555133C>G ENST00000399722.2 + 6 730 c.379C>G c.(379-381)Cta>Gta p.L127V RBBP8_ENST00000360790.5_Missense_Mutation_p.L127V|RBBP8_ENST00000327155.5_Missense_Mutation_p.L127V|RBBP8_ENST00000399725.2_Missense_Mutation_p.L127V NM_203291.1 NP_976036.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 127 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) AAGGAATACTCTACAGGAAGA 0.269000 Homologous recombination 5 11 0 0 0.003080 0 0 PTPN9 5780 broad.mit.edu 37 15 75798125 75798125 + Missense_Mutation SNP T T C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr15:75798125T>C ENST00000306726.2 - 7 1371 c.859A>G c.(859-861)Acc>Gcc p.T287A PTPN9_ENST00000564970.1_5'UTR NM_002833.2 NP_002824.1 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 9 287 cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCTTGGATGGTCATAGCATGG 0.502000 3 65 0 0 0.004672 0 0 CSNK1A1 1452 broad.mit.edu 37 5 148899953 148899953 + Splice_Site SNP T T C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr5:148899953T>C ENST00000261798.5 - 4 790 c.e4-2 CSNK1A1_ENST00000504676.1_Splice_Site|CSNK1A1_ENST00000515768.1_Splice_Site|CSNK1A1_ENST00000515435.1_Splice_Site|CSNK1A1_ENST00000377843.2_Splice_Site NM_001271741.1 NP_001258670.1 P48729 KC1A_HUMAN casein kinase 1, alpha 1 cell division|mitosis|Wnt receptor signaling pathway centrosome|condensed chromosome kinetochore|cytosol|nuclear speck ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) ACTGATCATCTGGAAAAAAAA 0.303000 20 28 0 0 0.001216 0 0 SLC25A14 9016 broad.mit.edu 37 X 129479183 129479183 + Nonsense_Mutation SNP G G T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chrX:129479183G>T ENST00000218197.5 + 2 330 c.103G>T c.(103-105)Gag>Tag p.E35* SLC25A14_ENST00000339231.3_Nonsense_Mutation_p.E32*|SLC25A14_ENST00000545805.1_Nonsense_Mutation_p.E35*|SLC25A14_ENST00000361980.5_Nonsense_Mutation_p.E32*|SLC25A14_ENST00000543953.1_5'UTR|SLC25A14_ENST00000467496.1_3'UTR NM_003951.2|NM_022810.1 NP_003942.1|NP_073721.1 O95258 UCP5_HUMAN solute carrier family 25 (mitochondrial carrier, brain), member 14 35 aerobic respiration|mitochondrial transport integral to plasma membrane|mitochondrial inner membrane binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1) 22 TGTAAGTCATGAGATGTCTGG 0.388000 35 19 1.26612e-14 7.22063e-14 0.003271 1 0 ASB8 140461 broad.mit.edu 37 12 48543326 48543326 + Silent SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr12:48543326C>T ENST00000317697.3 - 4 859 c.690G>A c.(688-690)gtG>gtA p.V230V ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000536549.1_Silent_p.V230V NM_024095.3 NP_077000.1 Q9H765 ASB8_HUMAN ankyrin repeat and SOCS box containing 8 230 intracellular signal transduction cytoplasm|nucleus breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1) 11 GGTCTCTGGCCACCTCTCGTG 0.532000 19 44 0 0 0.002299 0 0 RREB1 6239 broad.mit.edu 37 6 7229324 7229324 + Missense_Mutation SNP T T G TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr6:7229324T>G ENST00000379938.2 + 10 1529 c.992T>G c.(991-993)cTg>cGg p.L331R RREB1_ENST00000349384.6_Missense_Mutation_p.L331R|RREB1_ENST00000334984.6_Missense_Mutation_p.L331R|RREB1_ENST00000379933.3_Missense_Mutation_p.L331R NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 331 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CTCTGCTCACTGGCTCTGCAC 0.607000 16 21 0 0 0.000958 0 0 SCN7A 6332 broad.mit.edu 37 2 167298060 167298060 + Missense_Mutation SNP C C A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr2:167298060C>A ENST00000409855.1 - 14 2129 c.2003G>T c.(2002-2004)cGc>cTc p.R668L NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 668 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 CATGTGCCAGCGTGGGAGTTG 0.458000 15 46 6.49762e-13 3.66924e-12 0.006122 1 0 SCN1A 6323 broad.mit.edu 37 2 166904235 166904235 + Missense_Mutation SNP G G T rs121917923 TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr2:166904235G>T ENST00000423058.2 - 8 1089 c.1072C>A c.(1072-1074)Ccc>Acc p.P358T SCN1A_ENST00000375405.3_Missense_Mutation_p.P358T|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.P358T|SCN1A_ENST00000303395.4_Missense_Mutation_p.P358T|AC010127.3_ENST00000595268.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 358 P -> T (in SMEI; dbSNP:rs121917923). voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CCATAATTGGGATTTCTACCA 0.408000 24 68 9.86323e-18 5.73861e-17 0.003954 1 0 LOC101927079 101927079 broad.mit.edu 37 15 22332432 22332432 + RNA SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr15:22332432C>T ENST00000558896.1 + 0 239 AAGATTCTAACGTGACAGAAC 0.343000 6 123 0 0 0.001168 0 0 MXRA5 25878 broad.mit.edu 37 X 3228388 3228388 + Missense_Mutation SNP C C A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chrX:3228388C>A ENST00000217939.6 - 7 8010 c.7856G>T c.(7855-7857)cGc>cTc p.R2619L NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2619 Ig-like C2-type 10. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) AGCGGCATTGCGGGCCACGCA 0.597000 22 6 2.98393e-07 1.5625e-06 0.002780 1 0 AGAP7 653268 broad.mit.edu 37 10 51464881 51464881 + Silent SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr10:51464881G>A ENST00000374095.5 - 7 1700 c.1575C>T c.(1573-1575)agC>agT p.S525S NM_001077685.1 NP_001071153.1 Q5VUJ5 AGAP7_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 525 Arf-GAP. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 11 TCCGCCCCTGGCTGCTCCCTT 0.537000 6 193 0 0 0.001168 0 0 ACACB 32 broad.mit.edu 37 12 109634899 109634899 + Silent SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr12:109634899G>A ENST00000338432.7 + 17 2687 c.2568G>A c.(2566-2568)ggG>ggA p.G856G ACACB_ENST00000377854.5_Silent_p.G856G|ACACB_ENST00000377848.3_Silent_p.G856G O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 856 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) ATGATGGGGGGCTCCTGCTCT 0.587000 20 31 0 0 0.000958 0 0 CDHR5 53841 broad.mit.edu 37 11 621590 621590 + Missense_Mutation SNP A A C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr11:621590A>C ENST00000358353.3 - 6 801 c.479T>G c.(478-480)cTg>cGg p.L160R CDHR5_ENST00000349570.7_Missense_Mutation_p.L160R|CDHR5_ENST00000397542.2_Missense_Mutation_p.L160R Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 160 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 GGTGTAGAACAGAATGTCGTC 0.647000 23 73 0 0 0.001271 0 0 TTN 7273 broad.mit.edu 37 2 179474008 179474008 + Missense_Mutation SNP G G C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr2:179474008G>C ENST00000589042.1 - 273 52253 c.52029C>G c.(52027-52029)gaC>gaG p.D17343E TTN_ENST00000591111.1_Missense_Mutation_p.D15702E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D8278E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D14775E|TTN_ENST00000342175.6_Missense_Mutation_p.D8470E|TTN_ENST00000359218.5_Missense_Mutation_p.D8403E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15702 Fibronectin type-III 25. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACAGACCATGGTCAGGTCGGA 0.433000 11 23 0 0 0.000673 0 0 TPPP2 122664 broad.mit.edu 37 14 21500154 21500154 + Missense_Mutation SNP C C A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr14:21500154C>A ENST00000321760.6 + 4 579 c.431C>A c.(430-432)gCg>gAg p.A144E TPPP2_ENST00000530140.2_Missense_Mutation_p.A144E|NDRG2_ENST00000403829.3_Intron NM_173846.4 NP_776245.2 P59282 TPPP2_HUMAN tubulin polymerization-promoting protein family member 2 144 cytoplasm endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) AAGGGCATTGCGGGACGGGAA 0.537000 18 45 1.33834e-09 7.1378e-09 0.000958 1 0 NLRP3 114548 broad.mit.edu 37 1 247588449 247588449 + Silent SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr1:247588449C>T ENST00000366497.2 + 4 2484 c.1704C>T c.(1702-1704)ttC>ttT p.F568F NLRP3_ENST00000366496.2_Silent_p.F568F|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Silent_p.F568F|NLRP3_ENST00000336119.3_Silent_p.F568F|NLRP3_ENST00000391828.3_Silent_p.F568F|NLRP3_ENST00000391827.2_Silent_p.F568F NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 568 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) ATGGCAAATTCGAAAAGGGGT 0.463000 16 34 0 0 0.004007 0 0 FAT1 2195 broad.mit.edu 37 4 187584693 187584693 + Nonsense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr4:187584693G>A ENST00000441802.2 - 3 3549 c.3340C>T c.(3340-3342)Cag>Tag p.Q1114* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1114 Cadherin 9. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 ACGACACCCTGATCGGTTGCA 0.448000 HNSCC(5;0.00058) 27 53 0 0 0.003954 0 0 CBL 867 broad.mit.edu 37 11 119169109 119169109 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr11:119169109G>A ENST00000264033.4 + 15 2669 c.2293G>A c.(2293-2295)Gag>Aag p.E765K NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 765 Asp/Glu-rich (acidic).|Interaction with CD2AP. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) CACTGGTCCCGAGGAGTCAGA 0.507000 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 14 64 0 0 0.004007 0 0 GRHL1 29841 broad.mit.edu 37 2 10104143 10104143 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr2:10104143G>A ENST00000324907.9 + 6 1011 c.875G>A c.(874-876)gGa>gAa p.G292E GRHL1_ENST00000324883.5_Missense_Mutation_p.G103E|GRHL1_ENST00000405379.2_Missense_Mutation_p.G292E NM_198182.2 NP_937825.2 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 (Drosophila) 292 cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) AGCAGTGAAGGAATCCATCAT 0.473000 8 55 0 0 0.000443 0 0 TRIM46 80128 broad.mit.edu 37 1 155152365 155152365 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr1:155152365G>A ENST00000368382.1 + 8 1611 c.1474G>A c.(1474-1476)Ggc>Agc p.G492S TRIM46_ENST00000368385.4_Missense_Mutation_p.G515S|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000334634.4_Missense_Mutation_p.G515S|TRIM46_ENST00000545012.1_Missense_Mutation_p.G389S|TRIM46_ENST00000543729.1_3'UTR|TRIM46_ENST00000368383.3_Missense_Mutation_p.G515S NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4 NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3 Q7Z4K8 TRI46_HUMAN tripartite motif containing 46 515 Fibronectin type-III. intracellular zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 29 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GGCCGGCTACGGCGAATACAG 0.657000 13 34 0 0 0.002450 0 0 FREM2 341640 broad.mit.edu 37 13 39265021 39265021 + Silent SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr13:39265021C>T ENST00000280481.7 + 1 3756 c.3540C>T c.(3538-3540)ccC>ccT p.P1180P NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1180 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AGTTCTTCCCCATTGTAATCA 0.423000 67 103 0 0 0.003610 0 0 MAMDC4 158056 broad.mit.edu 37 9 139750831 139750831 + Missense_Mutation SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr9:139750831C>T ENST00000445819.1 + 15 1893 c.1843C>T c.(1843-1845)Cgg>Tgg p.R615W MAMDC4_ENST00000317446.2_Intron|MAMDC4_ENST00000485732.1_Intron Q6UXC1 AEGP_HUMAN MAM domain containing 4 615 MAM 3. protein transport integral to membrane breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 19 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) CCGGCCCTTCCGGGTGAGGAG 0.662000 7 15 0 0 0.001984 0 0 ALG6 29929 broad.mit.edu 37 1 63879798 63879798 + Missense_Mutation SNP C C A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr1:63879798C>A ENST00000371108.4 + 10 1188 c.883C>A c.(883-885)Cac>Aac p.H295N ALG6_ENST00000263440.4_Missense_Mutation_p.H297N NM_013339.3 NP_037471.2 Q9Y672 ALG6_HUMAN ALG6, alpha-1,3-glucosyltransferase 295 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 TTTGCCACGTCACATCCAATT 0.294000 18 41 6.94344e-10 3.77304e-09 0.006122 1 0 ANTXR2 118429 broad.mit.edu 37 4 80993706 80993706 + Silent SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr4:80993706C>T ENST00000403729.2 - 1 534 c.9G>A c.(7-9)gcG>gcA p.A3A ANTXR2_ENST00000295465.4_Silent_p.A3A|ANTXR2_ENST00000307333.7_Silent_p.A3A|ANTXR2_ENST00000404191.1_Intron|ANTXR2_ENST00000346652.6_Silent_p.A3A NM_058172.5 NP_477520.2 P58335 ANTR2_HUMAN anthrax toxin receptor 2 3 endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane metal ion binding|protein binding|receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 13 GGGACCGCTCCGCCACCATCC 0.746000 Juvenile Hyaline Fibromatosis 5 5 0 0 0.000602 0 0 KRT33B 3884 broad.mit.edu 37 17 39521652 39521652 + Missense_Mutation SNP C C T rs148300082 byFrequency TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr17:39521652C>T ENST00000251646.3 - 4 791 c.742G>A c.(742-744)Gcc>Acc p.A248T NM_002279.4 NP_002270.1 Q14525 KT33B_HUMAN keratin 33B 248 Coil 2.|Rod. intermediate filament protein binding|structural molecule activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000496) ACCTGCGTGGCGAACCATTGC 0.627000 7 41 0 0 0.002780 0 0 TRIP11 9321 broad.mit.edu 37 14 92470836 92470836 + Missense_Mutation SNP A A C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr14:92470836A>C ENST00000267622.4 - 11 3857 c.3484T>G c.(3484-3486)Tta>Gta p.L1162V NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1162 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) ATACGTGATAAATTCTGAATA 0.343000 T PDGFRB AML 20 23 0 0 0.001216 0 0 STEAP3 55240 broad.mit.edu 37 2 119988594 119988594 + Silent SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr2:119988594G>A ENST00000393110.2 + 2 457 c.6G>A c.(4-6)tcG>tcA p.S2S STEAP3_ENST00000393107.2_Intron|STEAP3_ENST00000450943.2_5'UTR|STEAP3_ENST00000409811.1_Intron|STEAP3_ENST00000393106.2_Intron|STEAP3_ENST00000354888.5_5'UTR|STEAP3_ENST00000393108.2_Intron Q658P3 STEA3_HUMAN STEAP family member 3, metalloreductase 0 apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport endosome membrane|integral to membrane|multivesicular body electron carrier activity|flavin adenine dinucleotide binding|iron ion binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 17 GCCGGATGTCGCACCAGCCTG 0.627000 11 24 0 0 0.001368 0 0 LMTK2 22853 broad.mit.edu 37 7 97821070 97821070 + Silent SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr7:97821070G>A ENST00000297293.5 + 11 1586 c.1293G>A c.(1291-1293)ccG>ccA p.P431P NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 431 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CTCTGAAGCCGAACACAAACA 0.577000 14 40 0 0 0.002450 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140784241 140784241 + Silent SNP T T C TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr5:140784241T>C ENST00000573521.1 + 1 1722 c.1722T>C c.(1720-1722)ggT>ggC p.G574G PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTCTACTGGTGTGGAGCTGG 0.562000 43 114 0 0 0.003214 0 0 RASGRF1 5923 broad.mit.edu 37 15 79317766 79317766 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr15:79317766G>A ENST00000419573.3 - 10 1706 c.1432C>T c.(1432-1434)Cgc>Tgc p.R478C RASGRF1_ENST00000558480.2_Missense_Mutation_p.R478C|RASGRF1_ENST00000560334.1_5'UTR NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 478 PH 2. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GACCCCAGGCGCCCCCTGGTG 0.557000 25 43 0 0 0.004656 0 0 VWA5A 4013 broad.mit.edu 37 11 123993788 123993788 + Silent SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr11:123993788C>T ENST00000456829.2 + 8 1133 c.882C>T c.(880-882)agC>agT p.S294S VWA5A_ENST00000392748.1_Silent_p.S294S|VWA5A_ENST00000360334.4_Silent_p.S294S|VWA5A_ENST00000361352.5_Silent_p.S294S|VWA5A_ENST00000449321.1_Silent_p.S294S|VWA5A_ENST00000392744.4_Silent_p.S310S NM_001130142.1 NP_001123614.1 O00534 VMA5A_HUMAN von Willebrand factor A domain containing 5A 294 VWFA. autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 GTATGCAGAGCCCCATGAGTA 0.463000 7 21 0 0 0.003080 0 0 PDE4C 5143 broad.mit.edu 37 19 18329002 18329002 + Silent SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr19:18329002G>A ENST00000355502.3 - 15 2158 c.1287C>T c.(1285-1287)gaC>gaT p.D429D PDE4C_ENST00000594465.2_Silent_p.D429D|PDE4C_ENST00000262805.11_Silent_p.D397D|PDE4C_ENST00000594617.2_Silent_p.D429D|PDE4C_ENST00000447275.2_Silent_p.D323D|PDE4C_ENST00000539010.1_Silent_p.D198D|AC068499.10_ENST00000594805.2_RNA Q08493 PDE4C_HUMAN phosphodiesterase 4C, cAMP-specific 429 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) GATGGTCCACGTCGTGGATGG 0.592000 20 41 0 0 0.001882 0 0 USP29 57663 broad.mit.edu 37 19 57640091 57640091 + Missense_Mutation SNP G G T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr19:57640091G>T ENST00000254181.4 + 4 502 c.48G>T c.(46-48)aaG>aaT p.K16N USP29_ENST00000598197.1_Missense_Mutation_p.K16N NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 16 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGAGCCAGAAGACTGGGATGA 0.348000 9 21 7.48243e-07 3.84811e-06 0.000443 1 0 CPVL 54504 broad.mit.edu 37 7 29035468 29035468 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr7:29035468G>A ENST00000409850.1 - 17 1997 c.1351C>T c.(1351-1353)Ccc>Tcc p.P451S CPVL_ENST00000396276.3_Missense_Mutation_p.P451S|CPVL_ENST00000265394.5_Missense_Mutation_p.P451S Q9H3G5 CPVL_HUMAN carboxypeptidase, vitellogenic-like 451 proteolysis protein binding|serine-type carboxypeptidase activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1) 28 TGGTCATAGGGTAAAATATGT 0.333000 14 21 0 0 0.003163 0 0 NKD1 85407 broad.mit.edu 37 16 50667423 50667423 + Missense_Mutation SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr16:50667423G>A ENST00000268459.3 + 10 1368 c.1144G>A c.(1144-1146)Gcc>Acc p.A382T NM_033119.4 NP_149110.1 Q969G9 NKD1_HUMAN naked cuticle homolog 1 (Drosophila) 382 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2) 23 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) GTCCCCCTCCGCCCACCTGGC 0.716000 7 15 0 0 0.001984 0 0 TMEM150B 284417 broad.mit.edu 37 19 55824407 55824407 + Silent SNP G G T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr19:55824407G>T ENST00000326652.4 - 8 704 c.522C>A c.(520-522)gcC>gcA p.A174A TMEM150B_ENST00000438693.1_Silent_p.A174A A6NC51 T150B_HUMAN transmembrane protein 150B 174 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 GCAGCGAGCAGGCGTGGAGGA 0.677000 8 9 5.18039e-06 2.64062e-05 0.003080 1 0 HERC2 8924 broad.mit.edu 37 15 28483835 28483835 + Missense_Mutation SNP C C T TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr15:28483835C>T ENST00000261609.7 - 24 3769 c.3661G>A c.(3661-3663)Gat>Aat p.D1221N NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 1221 Cytochrome b5 heme-binding. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) AAGCCTCCATCTTTATTATGG 0.378000 22 36 0 0 0.003330 0 0 SERPINE1 5054 broad.mit.edu 37 7 100777046 100777047 + Frame_Shift_Ins INS - - A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr7:100777046_100777047insA ENST00000223095.4 + 5 928_929 c.771_772insA c.(769-774)agtgttfs p.SV257fs SERPINE1_ENST00000445463.2_Frame_Shift_Ins_p.SV242fs NM_000602.4 NP_000593.1 P05121 PAI1_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 257 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3) 20 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) ACACCCTCAGCATGTTCATTGC 0.540 20 56 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 2 4 --- --- --- --- PPAN 56342 broad.mit.edu 37 19 10225151 10225152 + Frame_Shift_Del DEL AT AT - rs151191595 TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr19:10225151_10225152delAT ENST00000556468.1 + 13 2149_2150 c.2122_2123delAT c.(2122-2124)afs p.I708fs PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Frame_Shift_Del_p.I708fs|P2RY11_ENST00000321826.4_Frame_Shift_Del_p.I288fs peter pan homolog (Drosophila) endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 15 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) CTTTGCAGACATAGCCCAGGCC 0.658 21 20 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx be7cb5b4-1d09-479c-8bf2-a9e7abde575f 2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045 g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 4 2 --- --- --- ---