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 SLC35F5 80255 broad.mit.edu 37 2 114480706 114480706 + Missense_Mutation SNP A A G TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr2:114480706A>G ENST00000245680.2 - 13 1729 c.1316T>C c.(1315-1317)aTa>aCa p.I439T SLC35F5_ENST00000470204.2_5'UTR NM_025181.2 NP_079457.2 Q8WV83 S35F5_HUMAN solute carrier family 35, member F5 439 transport integral to membrane endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1) 20 GTCAGCTATTATGGACAGAGG 0.308000 36 89 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 96706583 96706583 + Missense_Mutation SNP C C T TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr3:96706583C>T ENST00000389672.5 + 3 898 c.860C>T c.(859-861)gCg>gTg p.A287V EPHA6_ENST00000542517.1_Missense_Mutation_p.A193V|EPHA6_ENST00000470610.2_Missense_Mutation_p.A287V NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 192 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 GACATTGGGGCGTGCATTGCC 0.458000 6 301 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26688866 26688866 + Missense_Mutation SNP G G A TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr2:26688866G>A ENST00000272371.2 - 37 4705 c.4579C>T c.(4579-4581)Cgc>Tgc p.R1527C OTOF_ENST00000339598.3_Missense_Mutation_p.R760C|OTOF_ENST00000338581.6_Missense_Mutation_p.R760C|OTOF_ENST00000402415.3_Missense_Mutation_p.R837C|OTOF_ENST00000403946.3_Missense_Mutation_p.R1527C NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1527 C2 4. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCTTGTCGCGGATGTCAGTC 0.587000 9 81 0 0 1 0 0 AUTS2 26053 broad.mit.edu 37 7 70227916 70227916 + Missense_Mutation SNP T T C TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr7:70227916T>C ENST00000342771.4 + 7 1124 c.803T>C c.(802-804)gTc>gCc p.V268A AUTS2_ENST00000406775.2_Missense_Mutation_p.V268A NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 268 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) GGGCCGATTGTCCCCAAGATA 0.537000 18 282 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195515449 195515449 + Missense_Mutation SNP A A T TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr3:195515449A>T ENST00000463781.3 - 2 3461 c.3002T>A c.(3001-3003)gTa>gAa p.V1001E MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V1001E NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1006 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.V1001A(1)|p.V1001E(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) ACCTGTGGATACTGAGGAAGC 0.587000 4 4 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9075050 9075050 + Silent SNP T T A TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr19:9075050T>A ENST00000397910.4 - 3 12599 c.12396A>T c.(12394-12396)tcA>tcT p.S4132S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4134 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGTCTTCTCTGAGTATGTAA 0.517000 10 111 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21640731 21640731 + Missense_Mutation SNP T T C TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr7:21640731T>C ENST00000328843.6 + 17 3390 c.3359T>C c.(3358-3360)tTg>tCg p.L1120S DNAH11_ENST00000409508.3_Missense_Mutation_p.L1120S Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1120 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AAAGTGAGCTTGTTAACCATA 0.353000 Kartagener syndrome 13 36 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21241933 21241933 + Missense_Mutation SNP C C T rs149357946 by1000genomes TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr2:21241933C>T ENST00000233242.1 - 20 3179 c.3052G>A c.(3052-3054)Gca>Aca p.A1018T NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1018 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TCATAGGTTGCGCTGACAGAA 0.453000 41 77 0 0 1 0 0 ABCG5 64240 broad.mit.edu 37 2 44050052 44050052 + Silent SNP G G A rs139361486 TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr2:44050052G>A ENST00000543989.1 - 6 1867 c.162C>T c.(160-162)agC>agT p.S54S ABCG5_ENST00000405322.1_Silent_p.S278S|ABCG5_ENST00000260645.1_Silent_p.S449S Q9H222 ABCG5_HUMAN ATP-binding cassette, sub-family G (WHITE), member 5 449 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TCTCCTGGTCGCTGACAGCTC 0.567000 15 23 0 0 1 0 0 CNTN2 6900 broad.mit.edu 37 1 205042816 205042816 + Missense_Mutation SNP C C T TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr1:205042816C>T ENST00000331830.4 + 23 3330 c.3046C>T c.(3046-3048)Cgc>Tgc p.R1016C NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 1016 axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CATGGCAGTCCGCCCAGCACC 0.607000 8 69 0 0 1 0 0 HIRA 7290 broad.mit.edu 37 22 19365445 19365445 + Missense_Mutation SNP C C G TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr22:19365445C>G ENST00000263208.5 - 14 1816 c.1560G>C c.(1558-1560)gaG>gaC p.E520D HIRA_ENST00000541063.1_Missense_Mutation_p.E476D|HIRA_ENST00000340170.4_Missense_Mutation_p.E520D|HIRA_ENST00000546308.1_Missense_Mutation_p.E476D NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 520 Interaction with CCNA1. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) CCACCACAGGCTCTGTGCAAG 0.582000 82 154 0 0 1 0 0 KNDC1 85442 broad.mit.edu 37 10 135024204 135024204 + Missense_Mutation SNP A A G TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr10:135024204A>G ENST00000304613.3 + 21 3905 c.3884A>G c.(3883-3885)gAc>gGc p.D1295G KNDC1_ENST00000368572.2_Missense_Mutation_p.D1297G Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 1295 N-terminal Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) TTCCTCCTCGACCGCATCAAC 0.627000 9 165 0 0 1 0 0 RCBTB1 55213 broad.mit.edu 37 13 50134077 50134077 + Missense_Mutation SNP T T C rs147650879 byFrequency TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr13:50134077T>C ENST00000378302.2 - 5 681 c.421A>G c.(421-423)Atg>Gtg p.M141V RCBTB1_ENST00000546015.1_Missense_Mutation_p.M141V|RCBTB1_ENST00000258646.3_Missense_Mutation_p.M141V NM_018191.3 NP_060661.3 Q8NDN9 RCBT1_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 141 cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1) 16 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;4.7e-09) GCCAGAGCCATTGAATGATGT 0.413000 53 126 0 0 1 0 0 KRT6A 3853 broad.mit.edu 37 12 52884675 52884675 + Silent SNP G G A rs398542 TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr12:52884675G>A ENST00000330722.6 - 4 947 c.879C>T c.(877-879)gaC>gaT p.D293D NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 293 Coil 1B.|Rod. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton p.D293D(4) breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) AGTTGATCTCGTCTGTGAGAG 0.498000 6 44 0 0 1 0 0 MAP4 4134 broad.mit.edu 37 3 47958144 47958144 + Silent SNP A A G TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr3:47958144A>G ENST00000426837.2 - 8 1311 c.1224T>C c.(1222-1224)gcT>gcC p.A408A MAP4_ENST00000360240.6_Silent_p.A391A|MAP4_ENST00000395734.3_Silent_p.A391A|MAP4_ENST00000383737.4_Intron P27816 MAP4_HUMAN microtubule-associated protein 4 391 17 X 14 AA tandem repeats. negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity p.A391A(2) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) CCTTGGAAGGAGCCAAGTCCA 0.443000 4 241 0 0 1 0 0 OR9G1 390174 broad.mit.edu 37 11 56468248 56468248 + Missense_Mutation SNP C C G TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr11:56468248C>G ENST00000312153.1 + 1 385 c.385C>G c.(385-387)Ctg>Gtg p.L129V NM_001005213.1 NP_001005213.1 olfactory receptor, family 9, subfamily G, member 1 breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1) 31 CTCCAAGCCCCTGCTTTATGC 0.512000 11 184 0 0 1 0 0 CCR7 1236 broad.mit.edu 37 17 38711204 38711204 + Silent SNP G G A TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr17:38711204G>A ENST00000246657.2 - 3 989 c.927C>T c.(925-927)gaC>gaT p.D309D CCR7_ENST00000579344.1_Silent_p.D303D NM_001838.3 NP_001829.1 P32248 CCR7_HUMAN chemokine (C-C motif) receptor 7 309 cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation integral to membrane|intracellular C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 Breast(137;0.000496) TGTAGGTGACGTCGTAGGCGA 0.567000 8 89 0 0 1 0 0 CDKN2AIP 55602 broad.mit.edu 37 4 184367509 184367509 + Silent SNP G G A TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr4:184367509G>A ENST00000504169.1 + 3 879 c.672G>A c.(670-672)acG>acA p.T224T CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_3'UTR NM_017632.2 NP_060102.1 Q9NXV6 CARF_HUMAN CDKN2A interacting protein 224 Ser-rich. negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability granular component|nucleoplasm double-stranded RNA binding|p53 binding endometrium(1)|kidney(2)|large_intestine(2)|lung(1) 6 all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) AGGTAACAACGGCAGGATCTG 0.488000 4 95 0 0 1 0 0 DCAF8 50717 broad.mit.edu 37 1 160209956 160209956 + Missense_Mutation SNP C C A TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr1:160209956C>A ENST00000368073.3 - 4 688 c.254G>T c.(253-255)gGt>gTt p.G85V DCAF8_ENST00000556710.1_Missense_Mutation_p.G239V|DCAF8_ENST00000461888.1_5'UTR|DCAF8_ENST00000368074.1_Missense_Mutation_p.G85V|DCAF8_ENST00000326837.2_Missense_Mutation_p.G85V Q5TAQ9 DCAF8_HUMAN DDB1 and CUL4 associated factor 8 85 CUL4 RING ubiquitin ligase complex protein binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1) 33 GGAGTAATGACCAGTGTCCTC 0.537000 8 21 0.000157383 0.000172684 1 1 0 MYCBP2 23077 broad.mit.edu 37 13 77835374 77835374 + Missense_Mutation SNP A A G TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr13:77835374A>G ENST00000407578.2 - 12 2050 c.1784T>C c.(1783-1785)cTt>cCt p.L595P MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.L557P|MYCBP2_ENST00000544440.2_Missense_Mutation_p.L557P NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 557 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding p.L557H(2)|p.L595H(1) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TGCAACTAAAAGGGCGTGAGA 0.403000 3 70 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13602746 13602746 + Silent SNP T T G TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr4:13602746T>G ENST00000040738.5 - 10 5913 c.5778A>C c.(5776-5778)gcA>gcC p.A1926A NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 1926 DNA binding TATTTTCATTTGCATTCATGA 0.458000 9 67 0 0 1 0 0 CXCR2 3579 broad.mit.edu 37 2 219000218 219000218 + Missense_Mutation SNP G G A TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr2:219000218G>A ENST00000318507.2 + 3 1121 c.694G>A c.(694-696)Gga>Aga p.G232R NM_001557.3 NP_001548.1 P25025 CXCR2_HUMAN chemokine (C-X-C motif) receptor 2 232 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 GTTCTGCTACGGATTCACCCT 0.567000 93 224 0 0 1 0 0 SLC17A5 26503 broad.mit.edu 37 6 74325149 74325149 + Missense_Mutation SNP G G A TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr6:74325149G>A ENST00000355773.5 - 8 1268 c.1000C>T c.(1000-1002)Cct>Tct p.P334S SLC17A5_ENST00000393019.3_3'UTR NM_012434.4 NP_036566.1 Q9NRA2 S17A5_HUMAN solute carrier family 17 (acidic sugar transporter), member 5 334 P -> R (in ISSD). anion transport integral to plasma membrane|lysosomal membrane|membrane fraction sialic acid:hydrogen symporter activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CCTAAATAAGGCAATGAAGAT 0.353000 5 36 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G A rs121913499 TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr2:209113113G>A ENST00000415913.1 - 4 775 c.394C>T c.(394-396)Cgt>Tgt p.R132C IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 18 53 0 0 1 0 0 ST5 6764 broad.mit.edu 37 11 8751512 8751512 + Missense_Mutation SNP C C T TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr11:8751512C>T ENST00000534127.1 - 6 1710 c.1325G>A c.(1324-1326)cGc>cAc p.R442H ST5_ENST00000526757.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.R442H|ST5_ENST00000530438.1_Intron|ST5_ENST00000357665.1_Missense_Mutation_p.R442H NM_005418.3 NP_005409.3 P78524 ST5_HUMAN suppression of tumorigenicity 5 442 Interaction with ABL1. positive regulation of ERK1 and ERK2 cascade protein binding NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 39 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) CTGGGACTTGCGGTGACCACG 0.577000 5 577 0 0 1 0 0 ADH1C 126 broad.mit.edu 37 4 100264168 100264168 + RNA SNP G G A rs78113489 TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr4:100264168G>A ENST00000510055.1 - 0 786 ADH1C_ENST00000515683.1_RNA P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) CAGATAGGCCGACCCCTCCCA 0.438000 13 286 0 0 1 0 0 LCN6 158062 broad.mit.edu 37 9 139640326 139640326 + Nonsense_Mutation SNP G G A TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr9:139640326G>A ENST00000435202.1 - 3 240 c.241C>T c.(241-243)Cga>Tga p.R81* LCN6_ENST00000476567.1_Nonsense_Mutation_p.R6*|LCN6_ENST00000341206.4_Nonsense_Mutation_p.R91* P62502 LCN6_HUMAN lipocalin 6 91 single fertilization extracellular region binding lung(3)|upper_aerodigestive_tract(1) 4 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05) CCGGAGTTTCGCTTTATCAGG 0.632000 5 205 0 0 1 0 0 PRMT5 10419 broad.mit.edu 37 14 23395475 23395475 + Missense_Mutation SNP T T C TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr14:23395475T>C ENST00000324366.8 - 7 867 c.644A>G c.(643-645)aAt>aGt p.N215S PRMT5_ENST00000397440.4_Intron|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000553641.1_5'UTR|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.N109S|PRMT5-AS1_ENST00000599580.1_RNA|PRMT5_ENST00000397441.2_Missense_Mutation_p.N198S|PRMT5_ENST00000553897.1_Missense_Mutation_p.N171S|PRMT5_ENST00000216350.8_Missense_Mutation_p.N154S NM_006109.3 NP_006100.2 O14744 ANM5_HUMAN protein arginine methyltransferase 5 215 cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 25 all_cancers(95;2.76e-05) GBM - Glioblastoma multiforme(265;0.0126) AATGACATGATTAGATGGGAG 0.473000 10 91 0 0 1 0 0 SLC1A4 6509 broad.mit.edu 37 2 65248050 65248050 + Missense_Mutation SNP C C T TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr2:65248050C>T ENST00000234256.3 + 8 1612 c.1369C>T c.(1369-1371)Cgg>Tgg p.R457W SLC1A4_ENST00000531327.1_Missense_Mutation_p.R159W NM_003038.4 NP_003029.2 P43007 SATT_HUMAN solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 457 cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic intermediate filament|melanosome chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1) 13 L-Alanine(DB00160) CACCAGGGACCGGACCACCAC 0.552000 38 101 0 0 1 0 0 PRAMEF10 343071 broad.mit.edu 37 1 12954492 12954492 + Missense_Mutation SNP A A G TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr1:12954492A>G ENST00000235347.4 - 3 870 c.791T>C c.(790-792)cTc>cCc p.L264P NM_001039361.3 NP_001034450.2 O60809 PRA10_HUMAN PRAME family member 10 264 NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GTACAGGCAGAGGAATGGAGA 0.463000 68 112 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127648342 127648342 + Silent SNP G G A TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr5:127648342G>A ENST00000508053.1 - 43 5837 c.4863C>T c.(4861-4863)tgC>tgT p.C1621C FBN2_ENST00000262464.4_Silent_p.C1621C P35556 FBN2_HUMAN fibrillin 2 1621 TB 6. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TGACAGGGGGGCATGTCTCAC 0.512000 5 422 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189586404 189586404 + Missense_Mutation SNP G G T rs121908841 TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr3:189586404G>T ENST00000264731.3 + 8 1117 c.1028G>T c.(1027-1029)cGg>cTg p.R343L TP63_ENST00000392463.2_Missense_Mutation_p.R249L|TP63_ENST00000382063.4_Missense_Mutation_p.R258L|TP63_ENST00000440651.2_Missense_Mutation_p.R343L|TP63_ENST00000392460.3_Missense_Mutation_p.R343L|TP63_ENST00000437221.1_Missense_Mutation_p.R249L|TP63_ENST00000456148.1_Missense_Mutation_p.R249L|TP63_ENST00000354600.5_Missense_Mutation_p.R249L|TP63_ENST00000392461.3_Missense_Mutation_p.R249L|TP63_ENST00000320472.5_Missense_Mutation_p.R343L|TP63_ENST00000418709.2_Missense_Mutation_p.R343L|TP63_ENST00000449992.1_Missense_Mutation_p.R164L NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 343 R -> Q (in EEC3).|R -> W (in EEC3). anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R343Q(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) TTTGAGGCCCGGATCTGTGCT 0.488000 HNSCC(45;0.13) 7 72 0.0381472 0.0391381 1 1 0 SPATA18 132671 broad.mit.edu 37 4 52951155 52951155 + Missense_Mutation SNP G G C TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr4:52951155G>C ENST00000295213.4 + 11 1927 c.1553G>C c.(1552-1554)gGt>gCt p.G518A SPATA18_ENST00000419395.2_Missense_Mutation_p.G486A NM_145263.2 NP_660306.1 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 518 mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) AGCCAAATTGGTTTAAACACG 0.363000 4 44 0 0 1 0 0 GPR128 84873 broad.mit.edu 37 3 100365452 100365452 + Missense_Mutation SNP G G T TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr3:100365452G>T ENST00000273352.3 + 10 1418 c.1150G>T c.(1150-1152)Gtc>Ttc p.V384F GPR128_ENST00000475887.1_Missense_Mutation_p.V89F NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 384 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 CTATGCCTGTGTCTATTGGAA 0.373000 4 71 3.59834e-05 4.00378e-05 1 1 0 IRS1 3667 broad.mit.edu 37 2 227660233 227660233 + Silent SNP C C T TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr2:227660233C>T ENST00000305123.4 - 1 4242 c.3222G>A c.(3220-3222)cgG>cgA p.R1074R NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 1074 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) TGAGGTTCACCCGGGTGAAGG 0.647000 44 91 0 0 1 0 0 TRBV3-1 0 broad.mit.edu 37 7 142008635 142008635 + RNA SNP C C T TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr7:142008635C>T ENST00000390387.3 + 0 155 AGATGGGAAACGACAAGTCCA 0.403000 5 86 0 0 1 0 0 EGR2 1959 broad.mit.edu 37 10 64573175 64573175 + Missense_Mutation SNP G G A TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr10:64573175G>A ENST00000242480.3 - 2 1548 c.1223C>T c.(1222-1224)gCc>gTc p.A408V EGR2_ENST00000411732.1_Missense_Mutation_p.A358V|EGR2_ENST00000439032.1_Missense_Mutation_p.A408V NM_000399.3|NM_001136177.1 NP_000390.2|NP_001129649.1 P11161 EGR2_HUMAN early growth response 2 408 fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 36 Prostate(12;0.0297)|all_hematologic(501;0.228) ATCACTCCGGGCAAACTTTCG 0.602000 5 184 0 0 1 0 0 TCEB3CL 728929 broad.mit.edu 37 18 44549186 44549186 + Silent SNP C C T TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr18:44549186C>T ENST00000451265.1 - 1 1348 c.1113G>A c.(1111-1113)acG>acA p.T371T KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron NM_001100817.1 NP_001094287.1 transcription elongation factor B polypeptide 3C-like central_nervous_system(1)|lung(1)|prostate(1) 3 GCTGATCGGGCGTCCACCCTT 0.582000 13 1222 0 0 1 0 0 TTC17 55761 broad.mit.edu 37 11 43515339 43515339 + Missense_Mutation SNP C C T TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr11:43515339C>T ENST00000039989.4 + 24 3325 c.3311C>T c.(3310-3312)gCa>gTa p.A1104V NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 1104 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 TTTGAAAAAGCACTGGTGTGG 0.463000 62 172 0 0 1 0 0 SERPINA3 12 broad.mit.edu 37 14 95085593 95085593 + Missense_Mutation SNP G G C TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr14:95085593G>C ENST00000553947.1 + 6 1668 c.780G>C c.(778-780)aaG>aaC p.K260N SERPINA3_ENST00000467132.1_Missense_Mutation_p.K235N|SERPINA3_ENST00000482740.1_Missense_Mutation_p.K17N|SERPINA3_ENST00000393080.4_Missense_Mutation_p.K235N|SERPINA3_ENST00000393078.3_Missense_Mutation_p.K235N|SERPINA3_ENST00000556388.1_Intron P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 235 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) ACTTGAGCAAGAAAAAGTGGG 0.507000 38 38 0 0 1 0 0 HCK 3055 broad.mit.edu 37 20 30659555 30659555 + Silent SNP C C T rs112610391 TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr20:30659555C>T ENST00000534862.1 + 3 456 c.93C>T c.(91-93)taC>taT p.Y31Y HCK_ENST00000520553.1_Silent_p.Y30Y|HCK_ENST00000375852.2_Silent_p.Y51Y|HCK_ENST00000375862.2_Silent_p.Y51Y|HCK_ENST00000518730.1_Silent_p.Y30Y|HCK_ENST00000538448.1_Silent_p.Y30Y NM_001172132.1 NP_001165603.1 P08631 HCK_HUMAN hemopoietic cell kinase 51 interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GTCCTGTGTACGTGCCGGATC 0.582000 9 74 0 0 1 0 0 TTC12 54970 broad.mit.edu 37 11 113211422 113211422 + Missense_Mutation SNP T T A TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr11:113211422T>A ENST00000393020.1 + 11 1268 c.863T>A c.(862-864)tTt>tAt p.F288Y TTC12_ENST00000483239.2_Missense_Mutation_p.F294Y|TTC12_ENST00000529221.1_Missense_Mutation_p.F288Y|TTC12_ENST00000314756.3_Missense_Mutation_p.F288Y Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 288 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) CACAATGGATTTAGTATCATC 0.438000 7 63 0 0 1 0 0 TRIM54 57159 broad.mit.edu 37 2 27505759 27505759 + Missense_Mutation SNP G G A TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr2:27505759G>A ENST00000296098.4 + 1 430 c.160G>A c.(160-162)Gtc>Atc p.V54I TRIM54_ENST00000380075.2_Missense_Mutation_p.V54I NM_032546.3 NP_115935.3 Q9BYV2 TRI54_HUMAN tripartite motif containing 54 54 cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization microtubule|sarcomere signal transducer activity|zinc ion binding cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGCCAACGACGTCTTCCAGGT 0.592000 6 322 0 0 1 0 0 SLC17A1 6568 broad.mit.edu 37 6 25813406 25813406 + Missense_Mutation SNP C C T TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr6:25813406C>T ENST00000244527.4 - 7 767 c.652G>A c.(652-654)Gtt>Att p.V218I SLC17A1_ENST00000468082.1_Missense_Mutation_p.V218I|SLC17A1_ENST00000427328.1_Missense_Mutation_p.V218I|SLC17A1_ENST00000476801.1_Missense_Mutation_p.V218I NM_005074.3 NP_005065.2 Q14916 NPT1_HUMAN solute carrier family 17 (organic anion transporter), member 1 218 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36 TAAAACAGAACGAACCAGAGA 0.458000 4 85 0 0 1 0 0 KLF3 51274 broad.mit.edu 37 4 38690343 38690343 + Silent SNP G G A TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr4:38690343G>A ENST00000261438.5 + 3 500 c.195G>A c.(193-195)acG>acA p.T65T KLF3_ENST00000514033.1_Silent_p.T65T NM_016531.5 NP_057615.3 P57682 KLF3_HUMAN Kruppel-like factor 3 (basic) 65 Pro-rich.|Repressor domain. multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 18 TGGACCTCACGGTGAACAAGC 0.567000 9 78 0 0 1 0 0 TJP3 27134 broad.mit.edu 37 19 3730650 3730650 + Missense_Mutation SNP G G T TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr19:3730650G>T ENST00000541714.2 + 5 1021 c.559G>T c.(559-561)Gac>Tac p.D187Y TJP3_ENST00000539908.2_Missense_Mutation_p.D151Y|TJP3_ENST00000587686.1_Missense_Mutation_p.D206Y|TJP3_ENST00000262968.9_Missense_Mutation_p.D206Y|TJP3_ENST00000382008.3_Missense_Mutation_p.D187Y|TJP3_ENST00000589378.1_Missense_Mutation_p.D196Y NM_001267560.1 NP_001254489.1 O95049 ZO3_HUMAN tight junction protein 3 187 tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) GCCACGGCAGGACGTGCAGAT 0.657000 6 82 0.00116845 0.00124739 1 1 0 KDM1A 23028 broad.mit.edu 37 1 23405608 23405608 + Missense_Mutation SNP C C T TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr1:23405608C>T ENST00000400181.4 + 17 2097 c.1993C>T c.(1993-1995)Cca>Tca p.P665S KDM1A_ENST00000542151.1_Missense_Mutation_p.P665S|KDM1A_ENST00000356634.3_Missense_Mutation_p.P641S|RP1-184J9.2_ENST00000427154.1_RNA NM_001009999.2 NP_001009999.1 O60341 KDM1A_HUMAN lysine (K)-specific demethylase 1A 641 Demethylase activity. blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 TCAGTTTGTGCCACCTCTCCC 0.512000 6 169 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32072325 32072325 + Missense_Mutation SNP C C G TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr5:32072325C>G ENST00000438447.1 + 17 3015 c.2627C>G c.(2626-2628)cCc>cGc p.P876R PDZD2_ENST00000282493.3_Missense_Mutation_p.P876R O15018 PDZD2_HUMAN PDZ domain containing 2 876 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GTCCCTGGCCCCTTGTCAGAC 0.547000 12 125 0 0 1 0 0 HRH1 3269 broad.mit.edu 37 3 11300958 11300958 + Missense_Mutation SNP G G A TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr3:11300958G>A ENST00000397056.1 + 3 426 c.235G>A c.(235-237)Gtc>Atc p.V79I HRH1_ENST00000431010.2_Missense_Mutation_p.V79I|HRH1_ENST00000438284.2_Missense_Mutation_p.V79I NM_000861.3|NM_001098211.1 NP_000852.1|NP_001091681.1 P35367 HRH1_HUMAN histamine receptor H1 79 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) CGTGGGTGCCGTCGTCATGCC 0.582000 6 99 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844763 18844763 + RNA SNP T T C TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr22:18844763T>C ENST00000412938.1 + 0 3013 TCACAGCCTCTGAGGGCAGCA 0.562000 4 26 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20056252 20056252 + Missense_Mutation SNP A A C TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr20:20056252A>C ENST00000245957.5 + 6 635 c.559A>C c.(559-561)Aaa>Caa p.K187Q C20orf26_ENST00000451767.2_Missense_Mutation_p.K187Q|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.K187Q|C20orf26_ENST00000377309.2_5'UTR NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 187 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) GCACGTTCGCAAAGCCAGGTA 0.478000 7 104 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26431579 26431579 + RNA SNP C C A TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr6:26431579C>A ENST00000466808.2 + 0 1527 AGAATCAGTTCCCCAGTCTCA 0.587000 5 94 0.014758 0.0153405 1 1 0 PRG4 10216 broad.mit.edu 37 1 186275982 186275982 + Silent SNP C C T TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr1:186275982C>T ENST00000445192.2 + 7 1176 c.1131C>T c.(1129-1131)acC>acT p.T377T PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367485.4_Silent_p.T284T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 377 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACCCCCAAGGAGC 0.637000 5 222 0 0 1 0 0 ELAVL2 1993 broad.mit.edu 37 9 23701564 23701564 + Nonsense_Mutation SNP G G A TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr9:23701564G>A ENST00000397312.2 - 5 800 c.526C>T c.(526-528)Cga>Tga p.R176* ELAVL2_ENST00000380110.4_Nonsense_Mutation_p.R205*|ELAVL2_ENST00000223951.6_Nonsense_Mutation_p.R176*|ELAVL2_ENST00000544538.1_Nonsense_Mutation_p.R176*|ELAVL2_ENST00000380117.1_Nonsense_Mutation_p.R176* NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 176 RRM 2. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding p.R176*(1) breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) GCCTCAATTCGCTTGTCAAAT 0.443000 10 127 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18836192 18836192 + Missense_Mutation SNP T T C TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr12:18836192T>C ENST00000447925.2 - 15 2071 c.1802A>G c.(1801-1803)tAt>tGt p.Y601C PLCZ1_ENST00000539875.1_Missense_Mutation_p.Y410C|PLCZ1_ENST00000541695.1_3'UTR|PLCZ1_ENST00000538330.1_Missense_Mutation_p.Y385C|PLCZ1_ENST00000266505.7_Missense_Mutation_p.Y603C|PLCZ1_ENST00000435379.1_Missense_Mutation_p.Y408C|PLCZ1_ENST00000534932.1_Missense_Mutation_p.Y84C NM_033123.2 NP_149114.2 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 603 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) GTACCAAACATAAACAAACAG 0.343000 3 61 0 0 1 0 0 ZDHHC14 79683 broad.mit.edu 37 6 158066844 158066844 + Silent SNP C C T TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr6:158066844C>T ENST00000359775.5 + 6 1717 c.828C>T c.(826-828)atC>atT p.I276I ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Silent_p.I276I Q8IZN3 ZDH14_HUMAN zinc finger, DHHC-type containing 14 276 integral to membrane acyltransferase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 17 Breast(66;0.00586)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05) CCTACTTGATCAGCTCCAACC 0.527000 6 24 0 0 1 0 0 LIMK2 3985 broad.mit.edu 37 22 31663038 31663038 + Silent SNP G G A TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr22:31663038G>A ENST00000331728.4 + 9 1224 c.1110G>A c.(1108-1110)caG>caA p.Q370Q LIMK2_ENST00000340552.4_Silent_p.Q349Q|LIMK2_ENST00000444929.2_Silent_p.Q124Q|LIMK2_ENST00000333611.4_Silent_p.Q349Q|LIMK2_ENST00000406516.1_Silent_p.Q292Q NM_005569.3 NP_005560.1 P53671 LIMK2_HUMAN LIM domain kinase 2 370 Protein kinase. mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1) 29 AGGAGACCCAGAAAACTTTTC 0.473000 3 12 0 0 1 0 0 TEP1 7011 broad.mit.edu 37 14 20854643 20854643 + Missense_Mutation SNP G G A TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr14:20854643G>A ENST00000262715.5 - 19 2864 c.2824C>T c.(2824-2826)Cgc>Tgc p.R942C TEP1_ENST00000556935.1_Missense_Mutation_p.R834C NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 942 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) ACGCCCCAGCGGAGGTCGATT 0.657000 7 43 0 0 1 0 0 GUCA1A 2978 broad.mit.edu 37 6 42146546 42146546 + Missense_Mutation SNP C C T TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr6:42146546C>T ENST00000394237.1 + 5 1334 c.358C>T c.(358-360)Cgc>Tgc p.R120C GUCA1A_ENST00000541991.1_Missense_Mutation_p.R120C|GUCA1A_ENST00000053469.4_Missense_Mutation_p.R120C|GUCA1A_ENST00000372958.1_Missense_Mutation_p.R120C P43080 GUC1A_HUMAN guanylate cyclase activator 1A (retina) 120 EF-hand 3. signal transduction|visual perception membrane calcium ion binding|calcium sensitive guanylate cyclase activator activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 7 Colorectal(47;0.196) STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CCAGGCCATTCGCGCCATTAA 0.582000 34 359 0 0 1 0 0 PCDHGA7 0 broad.mit.edu 37 5 140762775 140762775 + Silent SNP G G A TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr5:140762775G>A ENST00000518325.1 + 1 309 c.309G>A c.(307-309)ctG>ctA p.L103L PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCGGTGTCTGGTAAACTTTA 0.483000 9 86 0 0 1 0 0 SENP2 59343 broad.mit.edu 37 3 185316806 185316806 + Missense_Mutation SNP A A G TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr3:185316806A>G ENST00000296257.5 + 4 592 c.352A>G c.(352-354)Aaa>Gaa p.K118E SENP2_ENST00000545472.1_Missense_Mutation_p.K108E|SENP2_ENST00000427465.2_Intron|SENP2_ENST00000465201.1_3'UTR NM_021627.2 NP_067640.2 Q9HC62 SENP2_HUMAN SUMO1/sentrin/SMT3 specific peptidase 2 118 mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway cytoplasm|nuclear membrane|nuclear pore protein binding|SUMO-specific protease activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3) 12 all_cancers(143;1.28e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) CAACATGCTGAAACTGGGTGA 0.368000 14 35 0 0 1 0 0 NCAPD2 9918 broad.mit.edu 37 12 6635636 6635636 + Silent SNP C C G TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr12:6635636C>G ENST00000315579.5 + 21 3388 c.2589C>G c.(2587-2589)ctC>ctG p.L863L NCAPD2_ENST00000545962.1_Silent_p.L818L|NCAPD2_ENST00000542492.1_3'UTR NM_014865.3 NP_055680.3 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 863 cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 CAGACCCACTCTGGATCCCAT 0.552000 9 121 0 0 1 0 0 OR6V1 346517 broad.mit.edu 37 7 142749777 142749777 + Missense_Mutation SNP A A G TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr7:142749777A>G ENST00000418316.1 + 1 361 c.340A>G c.(340-342)Aca>Gca p.T114A NM_001001667.1 NP_001001667.1 Q8N148 OR6V1_HUMAN olfactory receptor, family 6, subfamily V, member 1 114 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 20 Melanoma(164;0.059) CCTCATCCTGACAGACATGGC 0.577000 5 165 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117706989 117706989 + Missense_Mutation SNP C C G TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr6:117706989C>G ENST00000368508.3 - 15 2359 c.2161G>C c.(2161-2163)Gac>Cac p.D721H GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.D716H NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 721 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) CCTTTCGTGTCACTGTAGTAG 0.403000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 4 54 0 0 1 0 0 KRT37 8688 broad.mit.edu 37 17 39579137 39579137 + Missense_Mutation SNP C C T TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr17:39579137C>T ENST00000225550.3 - 3 624 c.625G>A c.(625-627)Ggg>Agg p.G209R AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 209 Coil 1B.|Rod. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) TTCTGCGTCCCGCACTTGTCC 0.627000 29 128 0 0 1 0 0 ESRP1 54845 broad.mit.edu 37 8 95680362 95680362 + Missense_Mutation SNP G G A TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr8:95680362G>A ENST00000433389.2 + 10 1307 c.1117G>A c.(1117-1119)Gct>Act p.A373T ESRP1_ENST00000358397.5_Missense_Mutation_p.A373T|ESRP1_ENST00000454170.2_Missense_Mutation_p.A373T|ESRP1_ENST00000423620.2_Missense_Mutation_p.A373T NM_001034915.2|NM_017697.3 NP_001030087.2|NP_060167.2 Q6NXG1 ESRP1_HUMAN epithelial splicing regulatory protein 1 373 RRM 2. mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 AACAGGGGACGCTTTTGTCCT 0.483000 7 90 0 0 1 0 0 PLCD4 84812 broad.mit.edu 37 2 219500985 219500985 + Silent SNP G G C TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr2:219500985G>C ENST00000450993.2 + 15 2391 c.2052G>C c.(2050-2052)ggG>ggC p.G684G PLCD4_ENST00000432688.1_Silent_p.G716G|PLCD4_ENST00000417849.1_Silent_p.G684G NM_032726.3 NP_116115.1 Q9BRC7 PLCD4_HUMAN phospholipase C, delta 4 684 C2. intracellular signal transduction|lipid catabolic process endoplasmic reticulum|membrane|nucleus calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3) 23 Renal(207;0.0915) Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) CATACTGGGGGCAGACACTAT 0.418000 74 161 0 0 1 0 0 FBXW4 6468 broad.mit.edu 37 10 103433381 103433381 + Frame_Shift_Del DEL C C - TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr10:103433381delC ENST00000331272.7 - 3 1024 c.406delG c.(406-408)ctfs p.A136fs NM_022039.3 NP_071322.1 P57775 FBXW4_HUMAN F-box and WD repeat domain containing 4 136 ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway ubiquitin ligase complex breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 15 Colorectal(252;0.123) Epithelial(162;4.35e-08)|all cancers(201;1.92e-06) ATGAAATTAGCCTGGGATATG 0.458 10 80 --- --- --- --- WNK1 65125 broad.mit.edu 37 12 993858 993859 + Frame_Shift_Del DEL CT CT - TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr12:993858_993859delCT ENST00000537687.1 + 19 5311_5312 c.4668_4669delCT c.(4666-4671)cactfs p.HS1556fs WNK1_ENST00000535572.1_Frame_Shift_Del_p.HS1049fs|WNK1_ENST00000530271.2_Frame_Shift_Del_p.HS1794fs|WNK1_ENST00000315939.6_Frame_Shift_Del_p.HS1296fs|WNK1_ENST00000340908.4_Frame_Shift_Del_p.HS889fs NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1296 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) ACTTGTCTCACTCTGCATCATC 0.431 11 151 --- --- --- --- CDH13 1012 broad.mit.edu 37 16 83251008 83251009 + Frame_Shift_Del DEL AT AT - TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr16:83251008_83251009delAT ENST00000566620.1 + 5 832_833 c.542_543delAT c.(541-543)gfs p.D181fs CDH13_ENST00000268613.10_Frame_Shift_Del_p.D228fs|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000428848.3_Frame_Shift_Del_p.D142fs NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 181 Cadherin 1. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) AAGGGAGTGGATCAAGAGCCTA 0.455 8 125 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578213 7578213 + Frame_Shift_Del DEL A A - TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a028455b-b422-4e51-ae03-779cfd854c13 b40a9126-a33f-4ad3-b610-5a6a51bcbd25 g.chr17:7578213delA ENST00000420246.2 - 6 768 c.636delT c.(634-636)ttfs p.F212fs TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.F212fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.F212fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.F212fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 212 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).|F -> Y (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.0?(8)|p.F212fs*3(6)|p.?(5)|p.R213fs*35(3)|p.F212L(2)|p.D208fs*1(1)|p.R209_R213delRNTFR(1)|p.F119fs*3(1)|p.T211fs*28(1)|p.D207_R213delDDRNTFR(1)|p.D207_V216del10(1)|p.T211_S215delTFRHS(1)|p.F80fs*3(1)|p.R120fs*35(1)|p.R209fs*6(1)|p.R81fs*>11(1)|p.D208_V216delDRNTFRHSV(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) CACTATGTCGAAAAGTGTTTC 0.532 111 """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) 45 32 --- --- --- ---