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 CASZ1 54897 broad.mit.edu 37 1 10720504 10720504 + Missense_Mutation SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr1:10720504C>T ENST00000377022.3 - 6 912 c.595G>A c.(595-597)Gag>Aag p.E199K CASZ1_ENST00000344008.5_Missense_Mutation_p.E199K NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 199 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) CTGGCCAGCTCGTCCCGCGTG 0.637000 5 42 0 0 1 0 0 OSR1 130497 broad.mit.edu 37 2 19553234 19553234 + Silent SNP G G C TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr2:19553234G>C ENST00000536433.1 - 1 3443 c.333C>G c.(331-333)ctC>ctG p.L111L OSR1_ENST00000272223.2_Silent_p.L111L Q8TAX0 OSR1_HUMAN odd-skipped related transciption factor 1 111 chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development nucleolus nucleic acid binding|zinc ion binding breast(1)|large_intestine(2)|lung(4)|ovary(1) 8 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) Acute lymphoblastic leukemia(84;0.221) GCTTGGTCTTGAGCGCTGGAA 0.637000 6 42 0 0 1 0 0 RAI1 10743 broad.mit.edu 37 17 17697666 17697666 + Silent SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr17:17697666C>T ENST00000353383.1 + 3 1873 c.1404C>T c.(1402-1404)ctC>ctT p.L468L RAI1_ENST00000261641.6_Silent_p.L468L NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 468 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) TCAAGAACCTCGTGTCCAGGA 0.627000 5 64 0 0 1 0 0 RCBTB2 1102 broad.mit.edu 37 13 49073886 49073886 + Missense_Mutation SNP A A G TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr13:49073886A>G ENST00000344532.3 - 13 1678 c.1255T>C c.(1255-1257)Ttt>Ctt p.F419L RCBTB2_ENST00000544492.1_Missense_Mutation_p.F145L|RCBTB2_ENST00000430805.2_Missense_Mutation_p.F424L NM_001268.2 NP_001259.1 O95199 RCBT2_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 419 BTB 1. Ran guanyl-nucleotide exchange factor activity breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3) 31 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) GACGAACGAAAATGCTCACAT 0.458000 12 67 0 0 1 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269411 150269411 + Missense_Mutation SNP G G C TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr7:150269411G>C ENST00000255945.2 + 3 428 c.253G>C c.(253-255)Gac>Cac p.D85H GIMAP4_ENST00000461940.1_Missense_Mutation_p.D99H|GIMAP4_ENST00000494750.1_3'UTR NM_018326.2 NP_060796.1 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 85 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGTCGTAGTTGACACACCAGG 0.498000 3 54 0 0 1 0 0 AP1AR 55435 broad.mit.edu 37 4 113189405 113189405 + Missense_Mutation SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr4:113189405C>T ENST00000274000.5 + 10 1104 c.749C>T c.(748-750)tCa>tTa p.S250L AP1AR_ENST00000309703.6_Missense_Mutation_p.S217L NM_018569.4 NP_061039.3 Q63HQ0 AP1AR_HUMAN adaptor-related protein complex 1 associated regulatory protein 250 protein transport early endosome|Golgi apparatus|late endosome|transport vesicle NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2) 9 AATCCTACATCAGCCTCTGAT 0.403000 6 90 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152275878 152275878 + Silent SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr1:152275878C>T ENST00000368799.1 - 3 11519 c.11484G>A c.(11482-11484)tcG>tcA p.S3828S FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3828 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CATGGTGACGCGACCCTGAGT 0.587000 Ichthyosis 41 504 0 0 1 0 0 IGKV1D-8 28904 broad.mit.edu 37 2 90260160 90260160 + RNA SNP G G T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr2:90260160G>T ENST00000471857.1 + 0 444 AGTGGCAGTGGATCTGGGACA 0.468000 33 178 3.90053e-15 4.10429e-15 1 1 0 VPS33B 26276 broad.mit.edu 37 15 91557626 91557626 + Nonsense_Mutation SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr15:91557626G>A ENST00000333371.3 - 4 630 c.277C>T c.(277-279)Cga>Tga p.R93* VPS33B_ENST00000557358.1_5'UTR|VPS33B_ENST00000535843.1_Nonsense_Mutation_p.R2*|VPS33B_ENST00000535906.1_Nonsense_Mutation_p.R66* NM_018668.3 NP_061138.3 Q9H267 VP33B_HUMAN vacuolar protein sorting 33 homolog B (yeast) 93 cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2) 16 Lung NSC(78;0.0987)|all_lung(78;0.175) GCAATGTATCGCATATTCTTG 0.418000 19 257 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175898456 175898456 + Missense_Mutation SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr4:175898456G>A ENST00000359240.3 + 5 2450 c.1780G>A c.(1780-1782)Gat>Aat p.D594N ADAM29_ENST00000404450.4_Missense_Mutation_p.D594N|ADAM29_ENST00000445694.1_Missense_Mutation_p.D594N|ADAM29_ENST00000514159.1_Missense_Mutation_p.D594N NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 594 Cys-rich. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) GAAGGGACCTGATATTGGTGA 0.418000 12 202 0 0 1 0 0 CCDC144NL 339184 broad.mit.edu 37 17 20799296 20799296 + Missense_Mutation SNP C C T rs148155806 byFrequency TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr17:20799296C>T ENST00000327925.5 - 1 157 c.38G>A c.(37-39)gGg>gAg p.G13E RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA NM_001004306.1 NP_001004306.1 Q6NUI1 C144L_HUMAN coiled-coil domain containing 144 family, N-terminal like 13 large_intestine(3)|lung(3)|skin(1) 7 CGGAGACCCCCCAGCCCCTCC 0.647000 OREG0024248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 8 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51773096 51773096 + Silent SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr15:51773096G>A ENST00000251076.5 - 24 6494 c.6207C>T c.(6205-6207)ctC>ctT p.L2069L DMXL2_ENST00000543779.2_Silent_p.L2069L|DMXL2_ENST00000449909.3_Silent_p.L1433L|RP11-707P17.1_ENST00000561007.1_RNA NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2069 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) GTTGAAATCTGAGTTTTCCTC 0.333000 15 122 0 0 1 0 0 SYTL5 94122 broad.mit.edu 37 X 37955445 37955445 + Silent SNP T T A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chrX:37955445T>A ENST00000357972.5 + 9 1566 c.1020T>A c.(1018-1020)acT>acA p.T340T TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Silent_p.T340T|SYTL5_ENST00000456733.2_Silent_p.T340T Q8TDW5 SYTL5_HUMAN synaptotagmin-like 5 340 intracellular protein transport membrane metal ion binding|Rab GTPase binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 44 CAGAGGATACTGTAAGCATAA 0.418000 30 49 0 0 1 0 0 F9 2158 broad.mit.edu 37 X 138643737 138643737 + Missense_Mutation SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chrX:138643737G>A ENST00000218099.2 + 8 900 c.893G>A c.(892-894)cGa>cAa p.R298Q F9_ENST00000394090.2_Missense_Mutation_p.R260Q NM_000133.3 NP_000124.1 P00740 FA9_HUMAN coagulation factor IX 298 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1) 35 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) AATGTGATTCGAATTATTCCT 0.353000 11 37 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14813014 14813014 + Missense_Mutation SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr9:14813014G>A ENST00000380881.4 - 17 3507 c.2692C>T c.(2692-2694)Cct>Tct p.P898S FREM1_ENST00000422223.2_Missense_Mutation_p.P897S|FREM1_ENST00000380880.3_Missense_Mutation_p.P897S Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 897 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TTCATGACAGGCATGAGGTCA 0.413000 15 112 0 0 1 0 0 TSPYL5 85453 broad.mit.edu 37 8 98289558 98289558 + Missense_Mutation SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr8:98289558G>A ENST00000322128.3 - 1 618 c.515C>T c.(514-516)gCg>gTg p.A172V NM_033512.2 NP_277047.2 Q86VY4 TSYL5_HUMAN TSPY-like 5 172 cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth nucleus protein binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 20 Breast(36;2.56e-06) CTCCCCTGCCGCCCCTTTCTT 0.652000 6 101 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8341854 8341854 + Missense_Mutation SNP C C A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr9:8341854C>A ENST00000381196.4 - 37 5329 c.4786G>T c.(4786-4788)Gtt>Ttt p.V1596F PTPRD_ENST00000486161.1_Missense_Mutation_p.V1189F|PTPRD_ENST00000358503.5_Missense_Mutation_p.V1574F|PTPRD_ENST00000355233.5_Missense_Mutation_p.V1190F|PTPRD_ENST00000360074.4_Missense_Mutation_p.V1583F|PTPRD_ENST00000540109.1_Missense_Mutation_p.V1596F|PTPRD_ENST00000537002.1_Missense_Mutation_p.V1186F|PTPRD_ENST00000397606.3_Missense_Mutation_p.V1189F|PTPRD_ENST00000356435.5_Missense_Mutation_p.V1596F|PTPRD_ENST00000397617.3_Missense_Mutation_p.V1189F|PTPRD_ENST00000397611.3_Missense_Mutation_p.V1186F NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1596 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TCTGTTTGAACCATATAGTTC 0.378000 TSP Lung(15;0.13) 19 292 0.0383953 0.0383953 1 1 0 BOC 91653 broad.mit.edu 37 3 112993426 112993426 + Missense_Mutation SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr3:112993426C>T ENST00000495514.1 + 9 2143 c.1439C>T c.(1438-1440)tCg>tTg p.S480L BOC_ENST00000497495.1_3'UTR|BOC_ENST00000355385.3_Missense_Mutation_p.S480L|BOC_ENST00000273395.4_Missense_Mutation_p.S480L Q9BWV1 BOC_HUMAN BOC cell adhesion associated, oncogene regulated 480 Fibronectin type-III 1. cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) ATCCTCAGCTCGCCCCGCACC 0.662000 6 80 0 0 1 0 0 KLHL25 64410 broad.mit.edu 37 15 86312316 86312316 + Silent SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr15:86312316C>T ENST00000337975.5 - 2 1000 c.726G>A c.(724-726)ccG>ccA p.P242P KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Silent_p.P242P NM_022480.3 NP_071925.2 Q9H0H3 ENC2_HUMAN kelch-like family member 25 242 cytoplasm breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 25 GGCAGTCGGACGGCAGCAAGG 0.652000 5 30 0 0 1 0 0 TREX1 11277 broad.mit.edu 37 3 48507918 48507918 + Missense_Mutation SNP G G C TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr3:48507918G>C ENST00000422277.2 + 1 690 c.29G>C c.(28-30)aGg>aCg p.R10T TREX1_ENST00000492235.1_Intron|TREX1_ENST00000456089.1_Intron|TREX1_ENST00000444177.1_Intron|TREX1_ENST00000433541.1_Intron|TREX1_ENST00000436480.2_Intron|TREX1_ENST00000296443.9_Intron NM_016381.3 NP_057465.1 Q9NSU2 TREX1_HUMAN three prime repair exonuclease 1 10 cell death|DNA recombination|DNA replication|mismatch repair nuclear envelope 3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3) 9 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) AGACAGGGCAGGATTGTGCAG 0.597000 7 52 0 0 1 0 0 TUFM 7284 broad.mit.edu 37 16 28854443 28854443 + Silent SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr16:28854443C>T ENST00000313511.3 - 10 1359 c.1221G>A c.(1219-1221)ctG>ctA p.L407L NM_003321.4 NP_003312.3 P49411 EFTU_HUMAN Tu translation elongation factor, mitochondrial 404 mitochondrial nucleoid GTP binding|GTPase activity|protein binding|translation elongation factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 13 GGTTGAACTTCAGGTCCTCCC 0.537000 8 66 0 0 1 0 0 CAPZA2 830 broad.mit.edu 37 7 116546361 116546361 + Silent SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr7:116546361C>T ENST00000361183.2 + 6 610 c.471C>T c.(469-471)tgC>tgT p.C157C CAPZA2_ENST00000458284.2_Intron NM_006136.2 NP_006127.1 P47755 CAZA2_HUMAN capping protein (actin filament) muscle Z-line, alpha 2 157 actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly cytosol|extracellular region|F-actin capping protein complex actin binding endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 13 all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326) TTATTGCATGCATAGAAAGCC 0.338000 11 79 0 0 1 0 0 PTGFRN 5738 broad.mit.edu 37 1 117484384 117484384 + Nonsense_Mutation SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr1:117484384C>T ENST00000393203.2 + 2 244 c.97C>T c.(97-99)Cga>Tga p.R33* NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor 33 Ig-like C2-type 1. endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) GACCCTGGTTCGAGTGGTGGG 0.537000 13 83 0 0 1 0 0 SELENBP1 8991 broad.mit.edu 37 1 151345138 151345138 + Translation_Start_Site SNP G G C TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr1:151345138G>C ENST00000435071.1 - 0 41 SELENBP1_ENST00000447402.3_De_novo_Start_OutOfFrame|SELENBP1_ENST00000368868.5_De_novo_Start_OutOfFrame|SELENBP1_ENST00000426705.2_De_novo_Start_OutOfFrame|SELENBP1_ENST00000473693.1_5'UTR Q13228 SBP1_HUMAN selenium binding protein 1 protein transport cytosol|membrane|nucleolus protein binding|selenium binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GGTACACTTTGATCCCGGCGG 0.577000 OREG0003915 type=REGULATORY REGION|Gene=SELENBP1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 11 99 0 0 1 0 0 CTNNB1 1499 broad.mit.edu 37 3 41274855 41274855 + Missense_Mutation SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr3:41274855C>T ENST00000349496.5 + 8 1385 c.1105C>T c.(1105-1107)Cac>Tac p.H369Y CTNNB1_ENST00000396185.3_Missense_Mutation_p.H369Y|CTNNB1_ENST00000396183.3_Missense_Mutation_p.H369Y|CTNNB1_ENST00000405570.1_Missense_Mutation_p.H369Y|CTNNB1_ENST00000453024.1_Missense_Mutation_p.H362Y NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 369 adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) TTTAGGACTTCACCTGACAGA 0.398000 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 7 85 0 0 1 0 0 TMEM33 55161 broad.mit.edu 37 4 41951378 41951378 + Missense_Mutation SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr4:41951378C>T ENST00000504986.1 + 6 955 c.590C>T c.(589-591)tCg>tTg p.S197L TMEM33_ENST00000325094.5_Missense_Mutation_p.S197L|TMEM33_ENST00000513702.1_Missense_Mutation_p.S197L NM_018126.2 NP_060596.2 P57088 TMM33_HUMAN transmembrane protein 33 197 integral to membrane|melanosome protein binding endometrium(1)|large_intestine(3)|lung(4)|ovary(1) 9 CTTCGATATTCGTCTCGAAGA 0.313000 10 83 0 0 1 0 0 SLC7A8 23428 broad.mit.edu 37 14 23635568 23635568 + Missense_Mutation SNP C C G TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr14:23635568C>G ENST00000316902.7 - 2 1058 c.333G>C c.(331-333)aaG>aaC p.K111N SLC7A8_ENST00000469263.1_Missense_Mutation_p.K111N NM_012244.3 NP_036376.2 Q9UHI5 LAT2_HUMAN solute carrier family 7 (amino acid transporter light chain, L system), member 8 111 blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin basolateral plasma membrane|cytoplasm|integral to plasma membrane neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1) 24 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00809) L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120) CGAAGATGTCCTTGACATAGG 0.512000 12 104 0 0 1 0 0 OR8J3 81168 broad.mit.edu 37 11 55904917 55904917 + Missense_Mutation SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr11:55904917G>A ENST00000301529.1 - 1 277 c.278C>T c.(277-279)tCa>tTa p.S93L NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) TTCATAGAATGAGGTAGTTTT 0.418000 9 145 0 0 1 0 0 SAMD4B 55095 broad.mit.edu 37 19 39870669 39870669 + Missense_Mutation SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr19:39870669C>T ENST00000314471.6 + 12 2629 c.1594C>T c.(1594-1596)Cgg>Tgg p.R532W SAMD4B_ENST00000598913.1_Missense_Mutation_p.R532W|SAMD4B_ENST00000596368.1_Intron NM_018028.2 NP_060498.2 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 532 protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2) 15 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) GAAGCTCCTCCGGACATTCCC 0.582000 4 18 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23874017 23874017 + Missense_Mutation SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr14:23874017G>A ENST00000405093.3 - 7 615 c.545C>T c.(544-546)gCg>gTg p.A182V MYH6_ENST00000356287.3_Missense_Mutation_p.A182V NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 182 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) AGTCTTCCCCGCCCCGGATTC 0.552000 10 69 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168102911 168102911 + Missense_Mutation SNP A A T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr2:168102911A>T ENST00000409195.1 + 9 5098 c.5009A>T c.(5008-5010)gAa>gTa p.E1670V XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E1670V|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E1448V NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1495 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TTCTCTGAGGAAAGATCTGTA 0.313000 5 74 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46123887 46123887 + Silent SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr12:46123887C>T ENST00000334344.6 + 2 325 c.153C>T c.(151-153)taC>taT p.Y51Y ARID2_ENST00000422737.1_5'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 51 ARID. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) ACGGTCTCTACACCAGAGTCA 0.532000 """N, S, F""" hepatocellular carcinoma 10 73 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 31983706 31983706 + Missense_Mutation SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr5:31983706C>T ENST00000438447.1 + 3 1310 c.922C>T c.(922-924)Cgc>Tgc p.R308C PDZD2_ENST00000282493.3_Missense_Mutation_p.R308C O15018 PDZD2_HUMAN PDZ domain containing 2 308 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 CAATGACAAACGCCGCTTCTC 0.493000 36 88 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152083634 152083634 + Missense_Mutation SNP C C G TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr1:152083634C>G ENST00000368804.1 - 2 2058 c.2059G>C c.(2059-2061)Gag>Cag p.E687Q NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 687 keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGCTCCTCCTCAGCTAGCTCC 0.637000 15 120 0 0 1 0 0 PALM2 114299 broad.mit.edu 37 9 112705583 112705583 + Missense_Mutation SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr9:112705583G>A ENST00000448454.2 + 8 1120 c.1120G>A c.(1120-1122)Ggg>Agg p.G374R AKAP2_ENST00000555236.1_Intron|AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000483909.1_Missense_Mutation_p.G338R|PALM2_ENST00000314527.4_Missense_Mutation_p.G372R|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2_ENST00000374531.2_Missense_Mutation_p.G340R|PALM2-AKAP2_ENST00000374530.3_Intron paralemmin 2 breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1) 18 GCTTGTGTCCGGGAGGCCGGT 0.547000 7 91 0 0 1 0 0 ZFP90 146198 broad.mit.edu 37 16 68598113 68598113 + Missense_Mutation SNP G G C TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr16:68598113G>C ENST00000570495.1 + 5 1715 c.1423G>C c.(1423-1425)Gag>Cag p.E475Q RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000563169.2_Missense_Mutation_p.E475Q|ZFP90_ENST00000398253.2_Missense_Mutation_p.E475Q Q8TF47 ZFP90_HUMAN ZFP90 zinc finger protein 475 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) CCATACTGCAGAGAACCCCTA 0.418000 10 140 0 0 1 0 0 SLC35A4 113829 broad.mit.edu 37 5 139947502 139947502 + Missense_Mutation SNP T T G TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr5:139947502T>G ENST00000514199.1 + 2 2434 c.748T>G c.(748-750)Tca>Gca p.S250A SLC35A4_ENST00000323146.3_Missense_Mutation_p.S250A|APBB3_ENST00000507279.1_Intron Q96G79 S35A4_HUMAN solute carrier family 35, member A4 250 Leu-rich. Golgi membrane|integral to membrane sugar:hydrogen symporter activity endometrium(4)|kidney(2)|large_intestine(3)|lung(4) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAAGGTTTCTCAGGATGGGC 0.562000 8 65 0 0 1 0 0 PCDHA13 56136 broad.mit.edu 37 5 140262058 140262058 + Missense_Mutation SNP A A G TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr5:140262058A>G ENST00000289272.2 + 1 205 c.205A>G c.(205-207)Aaa>Gaa p.K69E PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.K69E|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGGCGTCCAAAAGACACGG 0.627000 13 198 0 0 1 0 0 CD97 976 broad.mit.edu 37 19 14501807 14501807 + Missense_Mutation SNP A A T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr19:14501807A>T ENST00000242786.5 + 4 342 c.262A>T c.(262-264)Agc>Tgc p.S88C CD97_ENST00000587728.1_3'UTR|CD97_ENST00000358600.3_Missense_Mutation_p.S88C|CD97_ENST00000357355.3_Missense_Mutation_p.S88C NM_078481.3 NP_510966.1 P48960 CD97_HUMAN CD97 molecule 88 EGF-like 2; calcium-binding (Potential). cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 CACAGAGGGGAGCTACGACTG 0.527000 9 69 0 0 1 0 0 NDUFB8 4714 broad.mit.edu 37 10 102289582 102289582 + Missense_Mutation SNP C C G TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr10:102289582C>G ENST00000531258.1 - 1 56 c.27G>C c.(25-27)ttG>ttC p.L9F NDUFB8_ENST00000370320.4_Missense_Mutation_p.L9F|NDUFB8_ENST00000370322.1_Intron|SEC31B_ENST00000535773.1_5'UTR|NDUFB8_ENST00000557395.1_Missense_Mutation_p.L9F|NDUFB8_ENST00000299166.4_Missense_Mutation_p.L9F O95169 NDUB8_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa 9 mitochondrial electron transport, NADH to ubiquinone|transport endoplasmic reticulum|integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity endometrium(2)|lung(2) 4 Colorectal(252;0.234) Epithelial(162;5.68e-10)|all cancers(201;4.05e-08) NADH(DB00157) ACTGGACTCCCAAGACCCCGG 0.652000 3 29 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32630547 32630547 + Silent SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr9:32630547C>T ENST00000242310.4 - 1 5120 c.5031G>A c.(5029-5031)acG>acA p.T1677T NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1677 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CATCTCGAGACGTACTGAGGG 0.488000 18 197 0 0 1 0 0 CWH43 80157 broad.mit.edu 37 4 49009244 49009244 + Missense_Mutation SNP A A G TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr4:49009244A>G ENST00000226432.4 + 8 1270 c.1087A>G c.(1087-1089)Aat>Gat p.N363D CWH43_ENST00000513409.1_Missense_Mutation_p.N336D NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 363 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 TATCGGGCTGAATATGCTATT 0.333000 4 36 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41065521 41065521 + Silent SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr5:41065521C>T ENST00000399564.4 - 4 723 c.273G>A c.(271-273)gtG>gtA p.V91V NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B CTTCATACATCACAGAGTTGA 0.423000 14 41 0 0 1 0 0 SLITRK5 26050 broad.mit.edu 37 13 88329213 88329213 + Missense_Mutation SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr13:88329213G>A ENST00000325089.6 + 2 1789 c.1570G>A c.(1570-1572)Gtc>Atc p.V524I SLITRK5_ENST00000400028.3_Missense_Mutation_p.V283I NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 524 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) GCCCTCAGGCGTCTTCTCTGG 0.527000 9 98 0 0 1 0 0 ARMC8 25852 broad.mit.edu 37 3 137940804 137940804 + Silent SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr3:137940804G>A ENST00000469044.1 + 3 430 c.159G>A c.(157-159)caG>caA p.Q53Q ARMC8_ENST00000461822.1_Silent_p.Q53Q|ARMC8_ENST00000393058.3_Silent_p.Q43Q|ARMC8_ENST00000485396.1_Silent_p.Q11Q|ARMC8_ENST00000538260.1_Silent_p.Q53Q|ARMC8_ENST00000471453.1_Silent_p.Q39Q|ARMC8_ENST00000491704.1_Silent_p.Q11Q|ARMC8_ENST00000489213.1_Silent_p.Q11Q|ARMC8_ENST00000470821.1_Silent_p.Q53Q|ARMC8_ENST00000358441.2_Silent_p.Q39Q|ARMC8_ENST00000481646.1_Silent_p.Q39Q NM_001267041.1|NM_001267042.1 NP_001253970.1|NP_001253971.1 Q8IUR7 ARMC8_HUMAN armadillo repeat containing 8 53 binding endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1) 16 ACAACAAGCAGAAAGCCAATC 0.353000 6 136 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121208192 121208192 + Missense_Mutation SNP G G C TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr3:121208192G>C ENST00000264233.5 - 16 3714 c.3586C>G c.(3586-3588)Ctg>Gtg p.L1196V NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 1196 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) TGCTTTCGCAGGTACTGGTTA 0.348000 DNA polymerases (catalytic subunits) 14 360 0 0 1 0 0 COIL 8161 broad.mit.edu 37 17 55027263 55027263 + Missense_Mutation SNP G G C TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr17:55027263G>C ENST00000240316.4 - 2 1374 c.1340C>G c.(1339-1341)tCt>tGt p.S447C NM_004645.2 NP_004636.1 P38432 COIL_HUMAN coilin 447 2 X 4 AA repeats of S-L-P-A. Cajal body|nucleolus protein C-terminus binding NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 15 Breast(9;6.15e-08) GATAATAGTAGATGAATTTTT 0.408000 15 90 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23887583 23887583 + Silent SNP C C T rs144465613 byFrequency TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr14:23887583C>T ENST00000355349.3 - 30 4167 c.4005G>A c.(4003-4005)tcG>tcA p.S1335S NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1335 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.S1335S(3) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CATGCCGGGCCGACTGCAGTG 0.662000 4 53 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51524139 51524139 + Missense_Mutation SNP G G C TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr6:51524139G>C ENST00000371117.3 - 61 11060 c.10785C>G c.(10783-10785)atC>atG p.I3595M NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3595 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GAATAAACCTGATTTGGTTTT 0.428000 7 153 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52387662 52387662 + Silent SNP C C A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr8:52387662C>A ENST00000356297.4 - 7 664 c.564G>T c.(562-564)ctG>ctT p.L188L PXDNL_ENST00000543296.1_Silent_p.L188L NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 188 LRRCT. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity p.L188L(1) NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CCAGCCACATCAGATCACAGT 0.517000 4 34 0.000602214 0.000610879 1 1 0 WDR52 55779 broad.mit.edu 37 3 113084971 113084971 + Missense_Mutation SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr3:113084971C>T ENST00000393845.2 - 19 2696 c.2630G>A c.(2629-2631)gGa>gAa p.G877E WDR52_ENST00000295868.2_Missense_Mutation_p.G877E NM_001164496.1 NP_001157968.1 Q96MT7 WDR52_HUMAN WD repeat domain 52 877 breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 GCCATCTGCTCCAGCAGTCAC 0.353000 9 157 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166850813 166850813 + Missense_Mutation SNP C C G TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr2:166850813C>G ENST00000423058.2 - 25 4712 c.4695G>C c.(4693-4695)caG>caC p.Q1565H AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.Q1565H|SCN1A_ENST00000409050.1_Missense_Mutation_p.Q1537H|SCN1A_ENST00000375405.3_Missense_Mutation_p.Q1554H NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1565 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) CATATTCACTCTGGTCATCTG 0.393000 10 83 0 0 1 0 0 GJC3 349149 broad.mit.edu 37 7 99527091 99527091 + Silent SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr7:99527091G>A ENST00000312891.2 - 1 152 c.153C>T c.(151-153)ttC>ttT p.F51F RP4-604G5.1_ENST00000456499.1_RNA NM_181538.2 NP_853516.1 Q8NFK1 CXG3_HUMAN gap junction protein, gamma 3, 30.2kDa 51 connexon complex|integral to membrane breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 9 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) TGTGACACACGAATTCACTCT 0.637000 7 87 0 0 1 0 0 CHSY3 337876 broad.mit.edu 37 5 129521409 129521409 + Silent SNP C C T rs148231534 TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr5:129521409C>T ENST00000305031.4 + 3 2932 c.2574C>T c.(2572-2574)ttC>ttT p.F858F NM_175856.4 NP_787052.3 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 858 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) CAAGTACTTTCGCCTCAACCA 0.443000 13 82 0 0 1 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21450358 21450358 + Nonsense_Mutation SNP G G T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr12:21450358G>T ENST00000307378.6 - 10 1775 c.1055C>A c.(1054-1056)tCa>tAa p.S352* SLCO1A2_ENST00000452078.1_Nonsense_Mutation_p.S352*|SLCO1A2_ENST00000390670.3_Nonsense_Mutation_p.S350*|SLCO1A2_ENST00000537524.1_Nonsense_Mutation_p.S220*|SLCO1A2_ENST00000458504.1_Nonsense_Mutation_p.S220* NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 352 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 GATTGCATCTGAAGATGATAT 0.403000 4 47 0.00024832 0.000253718 1 1 0 RIOK1 83732 broad.mit.edu 37 6 7405510 7405510 + Silent SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr6:7405510C>T ENST00000379834.2 + 12 1632 c.1125C>T c.(1123-1125)gtC>gtT p.V375V NM_031480.2|NM_153005.1 NP_113668.2|NP_694550.1 Q9BRS2 RIOK1_HUMAN RIO kinase 1 375 Protein kinase. V -> I (in dbSNP:rs56067778). ATP binding|protein serine/threonine kinase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(93;0.0418) GTGTTGCTGTCATGACTGTGC 0.393000 5 87 0 0 1 0 0 C4BPA 722 broad.mit.edu 37 1 207287510 207287510 + Missense_Mutation SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr1:207287510C>T ENST00000367070.3 + 3 402 c.208C>T c.(208-210)Cgc>Tgc p.R70C NM_000715.3 NP_000706.1 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 70 Sushi 1. complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 GACTGAGACACGCTTCAAAAC 0.473000 9 155 0 0 1 0 0 MTR 4548 broad.mit.edu 37 1 237037072 237037072 + Splice_Site SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr1:237037072G>A ENST00000366577.5 + 23 2799 c.e23-1 MTR_ENST00000535889.1_Splice_Site NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) CTGTGCCTCAGAGTTATTGAT 0.358000 4 56 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161609 90161609 + RNA SNP A A G rs139928438 by1000genomes TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr16:90161609A>G ENST00000567960.1 + 0 345 TUBB8P7_ENST00000564451.1_RNA TGATGGAGTCAGTGATGGACG 0.617000 4 58 0 0 1 0 0 RFX1 5989 broad.mit.edu 37 19 14076339 14076339 + Silent SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr19:14076339G>A ENST00000254325.4 - 16 2367 c.2133C>T c.(2131-2133)atC>atT p.I711I NM_002918.4 NP_002909.4 P22670 RFX1_HUMAN regulatory factor X, 1 (influences HLA class II expression) 711 immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) CAAAGTTCCGGATCGCTTGGG 0.662000 10 93 0 0 1 0 0 SEMA5A 9037 broad.mit.edu 37 5 9202132 9202132 + Missense_Mutation SNP G G C TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr5:9202132G>C ENST00000382496.5 - 9 1532 c.867C>G c.(865-867)aaC>aaG p.N289K NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 289 Sema. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 TCTGCAATTCGTTGTAGTAAA 0.478000 4 71 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106509636 106509636 + Nonsense_Mutation SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr7:106509636C>T ENST00000359195.3 + 2 1940 c.1630C>T c.(1630-1632)Cga>Tga p.R544* PIK3CG_ENST00000496166.1_Nonsense_Mutation_p.R544*|PIK3CG_ENST00000440650.2_Nonsense_Mutation_p.R544* NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 544 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 GGACCGGGTTCGAGCAGAAAT 0.542000 13 61 0 0 1 0 0 ZNF440 126070 broad.mit.edu 37 19 11943646 11943646 + Missense_Mutation SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr19:11943646C>T ENST00000304060.5 + 4 1819 c.1655C>T c.(1654-1656)tCa>tTa p.S552L NM_152357.2 NP_689570.2 Q8IYI8 ZN440_HUMAN zinc finger protein 440 552 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GGAAAGCCTTCAGATCTGCCC 0.493000 10 61 0 0 1 0 0 UBN2 254048 broad.mit.edu 37 7 138957170 138957170 + Nonsense_Mutation SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr7:138957170C>T ENST00000288561.8 + 9 1699 c.1450C>T c.(1450-1452)Caa>Taa p.Q484* UBN2_ENST00000473989.2_Nonsense_Mutation_p.Q567* NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 567 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 GGCTCGTAGTCAAGCTAAGTG 0.393000 9 157 0 0 1 0 0 GGT3P 2679 broad.mit.edu 37 22 18769145 18769145 + RNA SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr22:18769145G>A ENST00000412448.1 - 0 1141 TGAGGCTGCCGTTGTAGAAGG 0.612000 4 33 0 0 1 0 0 STK11 6794 broad.mit.edu 37 19 1218445 1218445 + Missense_Mutation SNP A A T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr19:1218445A>T ENST00000326873.7 + 2 1493 c.320A>T c.(319-321)cAc>cTc p.H107L STK11_ENST00000585748.1_3'UTR NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 107 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(3)|p.H107R(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) AGGTTACGGCACAAAAATGTC 0.547000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 19 192 0 0 1 0 0 SATB2 23314 broad.mit.edu 37 2 200188670 200188670 + Silent SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr2:200188670C>T ENST00000443023.1 - 8 2686 c.1221G>A c.(1219-1221)tcG>tcA p.S407S SATB2_ENST00000260926.5_Silent_p.S466S|SATB2_ENST00000428695.1_Silent_p.S348S|SATB2_ENST00000457245.1_Silent_p.S466S|SATB2_ENST00000417098.1_Silent_p.S466S Q9UPW6 SATB2_HUMAN SATB homeobox 2 466 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TTGTCGGTGTCGAGGTTTTGG 0.458000 17 104 0 0 1 0 0 HIST1H3C 8352 broad.mit.edu 37 6 26045649 26045649 + Missense_Mutation SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr6:26045649C>T ENST00000540144.1 + 1 11 c.11C>T c.(10-12)aCg>aTg p.T4M NM_003531.2 NP_003522.1 P68431 H31_HUMAN histone cluster 1, H3c 4 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1) 8 ATGGCTCGTACGAAGCAAACA 0.507000 4 121 0 0 1 0 0 CREBRF 153222 broad.mit.edu 37 5 172517753 172517753 + Missense_Mutation SNP C C G TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr5:172517753C>G ENST00000540014.1 + 4 890 c.571C>G c.(571-573)Ctg>Gtg p.L191V CREBRF_ENST00000296953.2_Missense_Mutation_p.L191V|CREBRF_ENST00000520420.1_Missense_Mutation_p.L191V|CREBRF_ENST00000522692.1_Missense_Mutation_p.L191V Q8IUR6 CE041_HUMAN CREB3 regulatory factor 191 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TTCTAAGACTCTGCAGGCTGA 0.428000 10 44 0 0 1 0 0 TMCC2 9911 broad.mit.edu 37 1 205238090 205238090 + Missense_Mutation SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr1:205238090G>A ENST00000358024.3 + 3 1149 c.760G>A c.(760-762)Gac>Aac p.D254N TMCC2_ENST00000545499.1_Missense_Mutation_p.D176N|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000329800.7_Missense_Mutation_p.D14N|TMCC2_ENST00000330675.7_Missense_Mutation_p.D29N NM_014858.3 NP_055673.2 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 254 integral to membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1) 20 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) CGATAAGGGAGACCTGGTGGC 0.647000 5 97 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152675908 152675908 + Silent SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr6:152675908C>T ENST00000367255.5 - 67 11413 c.10812G>A c.(10810-10812)gaG>gaA p.E3604E SYNE1_ENST00000341594.5_Silent_p.E3575E|SYNE1_ENST00000423061.1_Silent_p.E3611E|SYNE1_ENST00000265368.4_Silent_p.E3604E|SYNE1_ENST00000448038.1_Silent_p.E3611E NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3604 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GAAACTTTTGCTCCATTAGCC 0.478000 HNSCC(10;0.0054) 10 97 0 0 1 0 0 CRISP2 7180 broad.mit.edu 37 6 49660582 49660582 + Missense_Mutation SNP A A C TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr6:49660582A>C ENST00000339139.4 - 10 872 c.636T>G c.(634-636)agT>agG p.S212R NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3 NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1 P16562 CRIS2_HUMAN cysteine-rich secretory protein 2 212 extracellular space kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) AATCACAGTTACTTAGGAGAT 0.363000 9 93 0 0 1 0 0 NTHL1 4913 broad.mit.edu 37 16 2096334 2096334 + Missense_Mutation SNP G G A rs139165943 byFrequency TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr16:2096334G>A ENST00000219066.1 - 2 191 c.173C>T c.(172-174)cCg>cTg p.P58L NM_002528.5 NP_002519.1 P78549 NTHL1_HUMAN nth endonuclease III-like 1 (E. coli) 58 depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion nucleoplasm 4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding lung(1) 1 TGCTTTCCGCGGACGCTTCAC 0.632000 Base excision repair (BER), DNA glycosylases 14 66 0 0 1 0 0 ZNF470 388566 broad.mit.edu 37 19 57086066 57086066 + Missense_Mutation SNP G G T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr19:57086066G>T ENST00000330619.8 + 5 933 c.247G>T c.(247-249)Gtg>Ttg p.V83L ZNF470_ENST00000601902.1_Missense_Mutation_p.V83L|ZNF470_ENST00000391709.3_Missense_Mutation_p.V83L NM_001001668.3 NP_001001668.3 Q6ECI4 ZN470_HUMAN zinc finger protein 470 83 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 41 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) AGACCCTTGGGTGATAAAAGG 0.428000 4 45 0.0215528 0.0217067 1 1 0 PLXNB1 5364 broad.mit.edu 37 3 48454538 48454538 + Nonsense_Mutation SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr3:48454538G>A ENST00000358536.4 - 24 4845 c.4576C>T c.(4576-4578)Cag>Tag p.Q1526* PLXNB1_ENST00000456774.1_Nonsense_Mutation_p.Q1343*|PLXNB1_ENST00000358459.4_Nonsense_Mutation_p.Q1343*|PLXNB1_ENST00000296440.6_Nonsense_Mutation_p.Q1526*|PLXNB1_ENST00000448774.2_Nonsense_Mutation_p.Q137* NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 1526 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) AGCTGGATCTGAACCTTCTTA 0.607000 6 104 0 0 1 0 0 CLEC4F 165530 broad.mit.edu 37 2 71044037 71044037 + Missense_Mutation SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr2:71044037G>A ENST00000272367.2 - 4 552 c.476C>T c.(475-477)gCc>gTc p.A159V CLEC4F_ENST00000426626.1_Missense_Mutation_p.A159V NM_001258027.1|NM_173535.2 NP_001244956.1|NP_775806.2 Q8N1N0 CLC4F_HUMAN C-type lectin domain family 4, member F 159 endocytosis integral to membrane receptor activity|sugar binding endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 37 CAATGTAGTGGCATCCTTTAG 0.483000 24 81 0 0 1 0 0 PCMTD1 115294 broad.mit.edu 37 8 52732960 52732960 + Missense_Mutation SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr8:52732960G>A ENST00000360540.5 - 7 1431 c.1025C>T c.(1024-1026)cCc>cTc p.P342L PCMTD1_ENST00000522514.1_Missense_Mutation_p.P342L|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.P266L NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 342 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity p.P342L(2) NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) TTCAGGGAGGGGCAGCTTCAT 0.353000 4 137 0 0 1 0 0 IGHV1OR15-9 390531 broad.mit.edu 37 15 20170174 20170174 + RNA SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr15:20170174G>A ENST00000338912.5 - 0 97 TGAGGCCCCAGGCTTCTTCAC 0.582000 8 83 0 0 1 0 0 POLG 5428 broad.mit.edu 37 15 89867078 89867078 + Nonsense_Mutation SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr15:89867078G>A ENST00000268124.5 - 12 2458 c.2125C>T c.(2125-2127)Cga>Tga p.R709* POLG_ENST00000442287.2_Nonsense_Mutation_p.R709* NM_001126131.1|NM_002693.2 NP_001119603.1|NP_002684.1 P54098 DPOG1_HUMAN polymerase (DNA directed), gamma 709 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) ACTGCAGCTCGCAAGTTCTCC 0.572000 DNA polymerases (catalytic subunits) 7 37 0 0 1 0 0 JOSD2 126119 broad.mit.edu 37 19 51010853 51010853 + Missense_Mutation SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr19:51010853C>T ENST00000598418.1 - 3 503 c.250G>A c.(250-252)Gcc>Acc p.A84T JOSD2_ENST00000391815.3_Missense_Mutation_p.A84T|JOSD2_ENST00000595669.1_Intron|JOSD2_ENST00000601423.1_Missense_Mutation_p.A84T NM_001270639.1|NM_001270640.1 NP_001257568.1|NP_001257569.1 Q8TAC2 JOS2_HUMAN Josephin domain containing 2 84 Josephin. protein deubiquitination ubiquitin-specific protease activity kidney(1)|lung(3)|prostate(1) 5 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364) CACCACACGGCGGCCAGGCCC 0.667000 8 139 0 0 1 0 0 TRIM10 10107 broad.mit.edu 37 6 30126364 30126364 + Missense_Mutation SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr6:30126364C>T ENST00000449742.2 - 3 643 c.568G>A c.(568-570)Gca>Aca p.A190T TRIM10_ENST00000376704.3_Missense_Mutation_p.A190T NM_006778.3 NP_006769.2 Q9UDY6 TRI10_HUMAN tripartite motif containing 10 190 cytoplasm zinc ion binding p.A190T(1) ovary(1) 1 CTCAGGTGTGCGAACTCAGAA 0.512000 6 348 0 0 1 0 0 ABHD6 57406 broad.mit.edu 37 3 58252993 58252993 + Missense_Mutation SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr3:58252993G>A ENST00000478253.1 + 4 698 c.197G>A c.(196-198)gGc>gAc p.G66D ABHD6_ENST00000295962.4_Missense_Mutation_p.G66D Q9BV23 ABHD6_HUMAN abhydrolase domain containing 6 66 integral to membrane acylglycerol lipase activity NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209) TCCTTCCGGGGCAGGCCTGGG 0.517000 4 73 0 0 1 0 0 KIAA1683 80726 broad.mit.edu 37 19 18368439 18368439 + Missense_Mutation SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr19:18368439G>A ENST00000392413.3 - 4 3870 c.3655C>T c.(3655-3657)Cgc>Tgc p.R1219C KIAA1683_ENST00000600328.2_Missense_Mutation_p.R1032C|KIAA1683_ENST00000600359.2_Missense_Mutation_p.R986C NM_001145304.1|NM_001145305.1|NM_025249.3 NP_001138776.1|NP_001138777.1|NP_079525.1 Q9H0B3 K1683_HUMAN KIAA1683 0 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 TGGAAGCAGCGATGGTCAGAT 0.662000 12 49 0 0 1 0 0 SULF1 23213 broad.mit.edu 37 8 70514051 70514051 + Missense_Mutation SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr8:70514051G>A ENST00000260128.4 + 10 1765 c.1048G>A c.(1048-1050)Gaa>Aaa p.E350K SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.E350K|SULF1_ENST00000458141.2_Missense_Mutation_p.E350K|SULF1_ENST00000402687.4_Missense_Mutation_p.E350K NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 350 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TCCAAGTGTAGAACCAGGATC 0.408000 15 169 0 0 1 0 0 CTNNB1 1499 broad.mit.edu 37 3 41266471 41266471 + Nonsense_Mutation SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr3:41266471C>T ENST00000349496.5 + 4 548 c.268C>T c.(268-270)Cga>Tga p.R90* CTNNB1_ENST00000396185.3_Nonsense_Mutation_p.R90*|CTNNB1_ENST00000396183.3_Nonsense_Mutation_p.R90*|CTNNB1_ENST00000405570.1_Nonsense_Mutation_p.R90*|CTNNB1_ENST00000453024.1_Nonsense_Mutation_p.R83* NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 90 adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.A5_Q143del(7)|p.Q28_H134del(5)|p.W25_I140del(3)|p.T3_A126del(2)|p.?(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.M5_N141>D(2)|p.M1_V173del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.A20_S111del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.E15_I140>V(1)|p.V22_T102del(1)|p.H24_M131del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P16_K133del(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) TGCAATGACTCGAGCTCAGAG 0.428000 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 13 153 0 0 1 0 0 OR2T6 254879 broad.mit.edu 37 1 248550957 248550957 + Silent SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr1:248550957G>A ENST00000355728.2 + 1 48 c.48G>A c.(46-48)ggG>ggA p.G16G NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G16G(1) endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCCTCATGGGGCTCTTCACTC 0.423000 4 101 0 0 1 0 0 CRISP1 167 broad.mit.edu 37 6 49814367 49814367 + Missense_Mutation SNP C C G TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr6:49814367C>G ENST00000335847.4 - 5 402 c.301G>C c.(301-303)Gaa>Caa p.E101Q CRISP1_ENST00000536021.1_Missense_Mutation_p.E101Q|CRISP1_ENST00000507853.1_Missense_Mutation_p.E101Q|CRISP1_ENST00000505118.1_Missense_Mutation_p.E101Q|CRISP1_ENST00000355791.2_Missense_Mutation_p.E101Q|CRISP1_ENST00000329411.5_Missense_Mutation_p.E101Q NM_001131.2 NP_001122.2 P54107 CRIS1_HUMAN cysteine-rich secretory protein 1 101 fusion of sperm to egg plasma membrane extracellular space endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0358) TGCATATTTTCTCCACAAAAG 0.363000 15 76 0 0 1 0 0 STK33 65975 broad.mit.edu 37 11 8457627 8457627 + Missense_Mutation SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr11:8457627C>T ENST00000447869.1 - 9 1925 c.1007G>A c.(1006-1008)aGa>aAa p.R336K STK33_ENST00000315204.1_Missense_Mutation_p.R336K|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000358872.3_Missense_Mutation_p.R149K|STK33_ENST00000534493.1_Missense_Mutation_p.R295K|STK33_ENST00000396672.1_Missense_Mutation_p.R336K|STK33_ENST00000396673.1_Missense_Mutation_p.R336K Q9BYT3 STK33_HUMAN serine/threonine kinase 33 336 Protein kinase. Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3) 23 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) TTCTCCTTTTCTTATTAACTC 0.318000 9 110 0 0 1 0 0 CCDC39 339829 broad.mit.edu 37 3 180334096 180334096 + Missense_Mutation SNP G G C TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr3:180334096G>C ENST00000442201.2 - 19 2761 c.2642C>G c.(2641-2643)tCt>tGt p.S881C CCDC39_ENST00000273654.4_3'UTR|TTC14_ENST00000382584.4_Intron NM_181426.1 NP_852091.1 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 881 Ser-rich. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) ATGTGAAGGAGATCTAGAGCT 0.413000 4 80 0 0 1 0 0 VGLL4 9686 broad.mit.edu 37 3 11600092 11600092 + Nonsense_Mutation SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr3:11600092G>A ENST00000273038.3 - 6 1176 c.811C>T c.(811-813)Cag>Tag p.Q271* VGLL4_ENST00000404339.1_Nonsense_Mutation_p.Q276*|VGLL4_ENST00000424529.2_Nonsense_Mutation_p.Q187*|VGLL4_ENST00000451674.2_Nonsense_Mutation_p.Q191*|VGLL4_ENST00000413604.1_Nonsense_Mutation_p.Q212*|VGLL4_ENST00000430365.2_Nonsense_Mutation_p.Q277* NM_014667.2 NP_055482.2 Q14135 VGLL4_HUMAN vestigial like 4 (Drosophila) 271 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111) CTGGCGGGCTGGCCCCTGCGA 0.642000 13 69 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141283496 141283496 + Missense_Mutation SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr2:141283496G>A ENST00000389484.3 - 49 8914 c.7943C>T c.(7942-7944)tCt>tTt p.S2648F NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2648 LDL-receptor class A 14. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CAGTGAGGTAGAATTACATCT 0.388000 TSP Lung(27;0.18) 5 60 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44086606 44086606 + Missense_Mutation SNP A A T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr1:44086606A>T ENST00000359947.4 + 32 5802 c.5462A>T c.(5461-5463)cAg>cTg p.Q1821L PTPRF_ENST00000372413.3_Missense_Mutation_p.Q1812L|PTPRF_ENST00000372414.3_Missense_Mutation_p.Q1821L|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.Q1180L|PTPRF_ENST00000438120.1_Missense_Mutation_p.Q1812L NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1821 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TTCATCGGGCAGGTGCATAAG 0.612000 6 45 0 0 1 0 0 SLFN13 146857 broad.mit.edu 37 17 33771680 33771680 + Silent SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr17:33771680G>A ENST00000285013.6 - 3 1295 c.1020C>T c.(1018-1020)ccC>ccT p.P340P SLFN13_ENST00000360502.2_Silent_p.P22P|SLFN13_ENST00000542635.1_Silent_p.P340P|SLFN13_ENST00000526861.1_Silent_p.P340P|SLFN13_ENST00000534689.1_Silent_p.P22P|SLFN13_ENST00000533791.1_Silent_p.P340P NM_144682.5 NP_653283.3 Q68D06 SLN13_HUMAN schlafen family member 13 340 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) CAGTTGTCAAGGGGCGGATGT 0.488000 8 102 0 0 1 0 0 DCAF5 8816 broad.mit.edu 37 14 69522198 69522198 + Missense_Mutation SNP T T A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr14:69522198T>A ENST00000341516.5 - 9 1352 c.1205A>T c.(1204-1206)cAt>cTt p.H402L DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000554215.1_Missense_Mutation_p.H320L|DCAF5_ENST00000557386.1_Missense_Mutation_p.H401L|DCAF5_ENST00000556847.1_Missense_Mutation_p.H320L NM_003861.2 NP_003852.1 Q96JK2 DCAF5_HUMAN DDB1 and CUL4 associated factor 5 402 CUL4 RING ubiquitin ligase complex breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2) 29 GGCGTAGTCATGCGACAGGCC 0.577000 33 154 0 0 1 0 0 ILDR1 286676 broad.mit.edu 37 3 121712219 121712219 + Silent SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr3:121712219G>A ENST00000273691.3 - 6 1350 c.1245C>T c.(1243-1245)caC>caT p.H415H ILDR1_ENST00000344209.5_Silent_p.H459H|ILDR1_ENST00000462014.1_Silent_p.H427H|ILDR1_ENST00000393631.1_Silent_p.H370H|ILDR1_ENST00000460554.1_5'UTR NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 459 cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) GTCGTCTCCCGTGCCTCTGAG 0.687000 12 33 0 0 1 0 0 TAS2R31 259290 broad.mit.edu 37 12 11183305 11183305 + Missense_Mutation SNP C C G rs149012476 by1000genomes TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr12:11183305C>G ENST00000390675.2 - 1 701 c.630G>C c.(628-630)caG>caC p.Q210H TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176885.2 NP_795366.2 P59538 T2R31_HUMAN taste receptor, type 2, member 31 210 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|lung(6) 7 TACCATGGAGCTGCATCTTCT 0.428000 4 215 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39806219 39806219 + Nonsense_Mutation SNP G G T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr1:39806219G>T ENST00000564288.1 + 39 11038 c.10261G>T c.(10261-10263)Gag>Tag p.E3421* MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Nonsense_Mutation_p.E3426*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.E1861*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.E3458*|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 3426 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GGTCAGTCAGGAGCTGGAGTG 0.443000 5 45 8.12818e-05 8.3655e-05 1 1 0 GRIA4 2893 broad.mit.edu 37 11 105845108 105845108 + Missense_Mutation SNP G G C TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr11:105845108G>C ENST00000393127.2 + 16 2927 c.2481G>C c.(2479-2481)ttG>ttC p.L827F GRIA4_ENST00000282499.5_Missense_Mutation_p.L827F|GRIA4_ENST00000525187.1_Missense_Mutation_p.L827F|GRIA4_ENST00000530497.1_Missense_Mutation_p.L827F|GRIA4_ENST00000533094.1_3'UTR NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 827 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) GCTTGGGCTTGGCAATGCTGG 0.498000 12 76 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168104131 168104131 + Missense_Mutation SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr2:168104131G>A ENST00000409195.1 + 9 6318 c.6229G>A c.(6229-6231)Gaa>Aaa p.E2077K XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2077K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E1855K NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1902 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TCTTAGAGATGAATATATGAG 0.373000 4 58 0 0 1 0 0 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42133427 42133427 + Splice_Site SNP A A G TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr15:42133427A>G ENST00000382448.4 + 11 1094 c.e11-1 JMJD7-PLA2G4B_ENST00000458483.1_Splice_Site|PLA2G4B_ENST00000452633.1_Splice_Site|JMJD7-PLA2G4B_ENST00000342159.4_Splice_Site NM_005090.3 NP_005081.1 P0C869 PA24B_HUMAN arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2) 25 GGCTCTTTCCAGGGCTGACCG 0.657000 5 132 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60895805 60895805 + Missense_Mutation SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr20:60895805G>A ENST00000252999.3 - 49 6704 c.6638C>T c.(6637-6639)gCt>gTt p.A2213V NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 2213 Domain II and I. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGCAGGTCAGCGATGGAGGC 0.687000 5 22 0 0 1 0 0 TMEM131 23505 broad.mit.edu 37 2 98421912 98421912 + Silent SNP A A G TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr2:98421912A>G ENST00000186436.5 - 21 2439 c.2211T>C c.(2209-2211)atT>atC p.I737I NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 737 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 AAATGTTTGCAATCTATAAAG 0.373000 5 56 0 0 1 0 0 MMP21 118856 broad.mit.edu 37 10 127458964 127458964 + Missense_Mutation SNP G G T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr10:127458964G>T ENST00000368808.3 - 5 1175 c.1176C>A c.(1174-1176)caC>caA p.H392Q NM_147191.1 NP_671724.1 Q8N119 MMP21_HUMAN matrix metallopeptidase 21 392 proteolysis extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 16 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) CATCTATGTTGTGTGTTGGGA 0.418000 11 114 1.61879e-10 1.69074e-10 1 1 0 MLLT3 4300 broad.mit.edu 37 9 20414313 20414313 + Silent SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr9:20414313G>A ENST00000380338.4 - 5 817 c.531C>T c.(529-531)agC>agT p.S177S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S174S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 177 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.527000 T MLL ALL 5 113 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139380215 139380215 + Missense_Mutation SNP T T C TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr8:139380215T>C ENST00000395297.1 - 2 182 c.12A>G c.(10-12)atA>atG p.I4M NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 4 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CCGTTCCTTGTATTTCAGACA 0.368000 HNSCC(54;0.14) 8 75 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11117603 11117603 + Missense_Mutation SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr5:11117603C>T ENST00000304623.8 - 13 2425 c.2236G>A c.(2236-2238)Gtg>Atg p.V746M CTNND2_ENST00000511377.1_Missense_Mutation_p.V655M|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.V409M|CTNND2_ENST00000458100.2_Missense_Mutation_p.V313M|CTNND2_ENST00000359640.2_Missense_Mutation_p.V746M NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 746 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 GACTGGATCACGTACAGCAAG 0.517000 37 136 0 0 1 0 0 ERAP1 51752 broad.mit.edu 37 5 96121525 96121525 + Missense_Mutation SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr5:96121525G>A ENST00000296754.3 - 13 2167 c.1910C>T c.(1909-1911)gCg>gTg p.A637V ERAP1_ENST00000443439.2_Missense_Mutation_p.A637V|CTD-2260A17.1_ENST00000602972.1_RNA|ERAP1_ENST00000514604.1_5'UTR|CTD-2260A17.1_ENST00000512856.1_RNA NM_016442.3 NP_057526.3 Q9NZ08 ERAP1_HUMAN endoplasmic reticulum aminopeptidase 1 637 angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2) 19 all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244) all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071) AATGAGACTCGCCCGATCATT 0.418000 4 60 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634946 70634946 + Missense_Mutation SNP G G A rs141504535 TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr14:70634946G>A ENST00000381269.2 - 2 947 c.194C>T c.(193-195)cCg>cTg p.P65L SLC8A3_ENST00000534137.1_Missense_Mutation_p.P65L|SLC8A3_ENST00000356921.2_Missense_Mutation_p.P65L|SLC8A3_ENST00000357887.3_Missense_Mutation_p.P65L|SLC8A3_ENST00000528359.1_Missense_Mutation_p.P65L NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 65 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) AGGGTTCTCCGGGTACCAGAT 0.552000 9 39 0 0 1 0 0 ANKRD16 54522 broad.mit.edu 37 10 5925970 5925970 + Missense_Mutation SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr10:5925970G>A ENST00000380094.5 - 4 1192 c.649C>T c.(649-651)Cac>Tac p.H217Y ANKRD16_ENST00000191063.8_Missense_Mutation_p.H217Y|ANKRD16_ENST00000380092.4_Missense_Mutation_p.H217Y NM_019046.2 NP_061919.1 Q6P6B7 ANR16_HUMAN ankyrin repeat domain 16 217 breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2) 12 ACGTCGATGTGCCCACACTGG 0.463000 6 48 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14492732 14492732 + Silent SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr5:14492732G>A ENST00000344204.4 + 49 7713 c.7689G>A c.(7687-7689)acG>acA p.T2563T TRIO_ENST00000537187.1_Silent_p.T2387T|TRIO_ENST00000344135.5_Silent_p.T62T NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 2563 SH3 2. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) ACGATTACACGGCAGTGAAGG 0.522000 5 41 0 0 1 0 0 SOX3 6658 broad.mit.edu 37 X 139586659 139586659 + Silent SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chrX:139586659G>A ENST00000370536.2 - 1 566 c.567C>T c.(565-567)atC>atT p.I189I NM_005634.2 NP_005625.2 P41225 SOX3_HUMAN SRY (sex determining region Y)-box 3 189 face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent nucleus DNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 10 Acute lymphoblastic leukemia(192;7.65e-05) TGGCCTCGTCGATGAATGGTC 0.567000 9 38 0 0 1 0 0 OVGP1 5016 broad.mit.edu 37 1 111965617 111965617 + Silent SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr1:111965617C>T ENST00000369732.3 - 6 595 c.540G>A c.(538-540)ctG>ctA p.L180L OVGP1_ENST00000540696.1_Silent_p.L120L|OVGP1_ENST00000481495.1_5'UTR NM_002557.3 NP_002548.3 Q12889 OVGP1_HUMAN oviductal glycoprotein 1, 120kDa 180 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) CAGCAGACAGCAGCAGCCTCG 0.537000 16 180 0 0 1 0 0 C19orf40 91442 broad.mit.edu 37 19 33464993 33464993 + Translation_Start_Site SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr19:33464993G>A ENST00000589646.1 + 0 291 C19orf40_ENST00000588258.1_Missense_Mutation_p.V91I|C19orf40_ENST00000590179.1_De_novo_Start_OutOfFrame|C19orf40_ENST00000590281.1_Missense_Mutation_p.V91I Q9BTP7 FAP24_HUMAN chromosome 19 open reading frame 40 DNA repair Fanconi anaemia nuclear complex chromatin binding|DNA binding|protein binding endometrium(1)|large_intestine(2)|lung(2)|prostate(2) 7 Esophageal squamous(110;0.137) AATTGTAGTCGTTGAAAAAAC 0.418000 Direct reversal of damage 7 85 0 0 1 0 0 RSPH1 89765 broad.mit.edu 37 21 43912900 43912900 + Missense_Mutation SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr21:43912900G>A ENST00000291536.3 - 3 409 c.242C>T c.(241-243)aCt>aTt p.T81I RSPH1_ENST00000398352.3_Missense_Mutation_p.T43I NM_080860.2 NP_543136.1 Q8WYR4 RSPH1_HUMAN radial spoke head 1 homolog (Chlamydomonas) 81 meiosis cytosol|nucleus large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1) 12 ATATATAAAAGTGCCTTGACC 0.323000 6 128 0 0 1 0 0 IGSF11 152404 broad.mit.edu 37 3 118621617 118621617 + Nonsense_Mutation SNP G G C TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr3:118621617G>C ENST00000354673.2 - 9 1423 c.1043C>G c.(1042-1044)tCa>tGa p.S348* IGSF11_ENST00000489689.1_Nonsense_Mutation_p.S325*|IGSF11_ENST00000491903.1_Nonsense_Mutation_p.S321*|IGSF11_ENST00000425327.2_Nonsense_Mutation_p.S348*|IGSF11_ENST00000441144.2_Nonsense_Mutation_p.S324*|IGSF11_ENST00000393775.2_Nonsense_Mutation_p.S349* NM_152538.2 NP_689751.2 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 349 cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GGCATTGCCTGAGTGGAAAGA 0.478000 6 198 0 0 1 0 0 SLC3A1 6519 broad.mit.edu 37 2 44547744 44547744 + Missense_Mutation SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr2:44547744C>T ENST00000260649.6 + 10 2100 c.2024C>T c.(2023-2025)tCc>tTc p.S675F SLC3A1_ENST00000409740.3_Missense_Mutation_p.S306F|SLC3A1_ENST00000409380.1_Missense_Mutation_p.S397F|PREPL_ENST00000409411.1_3'UTR|PREPL_ENST00000541738.1_3'UTR|PREPL_ENST00000409936.1_3'UTR|PREPL_ENST00000409957.1_3'UTR NM_000341.3 NP_000332.2 Q07837 SLC31_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 1 675 carbohydrate metabolic process|cellular amino acid metabolic process|ion transport integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3) 26 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) GCATGCTATTCCAGTGTACTG 0.418000 9 68 0 0 1 0 0 IL37 27178 broad.mit.edu 37 2 113676262 113676262 + Missense_Mutation SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr2:113676262G>A ENST00000263326.3 + 5 575 c.533G>A c.(532-534)tGc>tAc p.C178Y IL37_ENST00000352179.3_Missense_Mutation_p.C157Y|IL37_ENST00000349806.3_Missense_Mutation_p.C117Y|IL37_ENST00000311328.2_Missense_Mutation_p.C152Y|IL37_ENST00000353225.3_Missense_Mutation_p.C138Y NM_014439.3 NP_055254.2 Q9NZH6 IL37_HUMAN interleukin 37 178 immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3) 19 TGGTTCATCTGCACCTCCTGC 0.493000 4 69 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3920783 3920783 + Missense_Mutation SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr17:3920783G>A ENST00000381638.2 - 48 8007 c.7883C>T c.(7882-7884)gCc>gTc p.A2628V NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 2628 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 AGGCCACTCGGCGAGCAGGGA 0.582000 4 38 0 0 1 0 0 PWWP2B 170394 broad.mit.edu 37 10 134218307 134218307 + Silent SNP A A C TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr10:134218307A>C ENST00000305233.5 + 2 362 c.303A>C c.(301-303)ccA>ccC p.P101P PWWP2B_ENST00000368609.4_Silent_p.P101P NM_138499.3 NP_612508.3 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2B 101 Pro-rich. p.P101P(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) GCCCCGAGCCACCCCCGCCCC 0.756000 6 11 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43305922 43305922 + Silent SNP G G C TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr6:43305922G>C ENST00000361428.2 - 10 5891 c.5814C>G c.(5812-5814)ctC>ctG p.L1938L ZNF318_ENST00000318149.3_Intron NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 1938 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) TCTTGAGTTTGAGACTTCTGT 0.438000 9 185 0 0 1 0 0 BRPF3 27154 broad.mit.edu 37 6 36182028 36182028 + Missense_Mutation SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr6:36182028G>A ENST00000357641.6 + 8 3107 c.2854G>A c.(2854-2856)Gag>Aag p.E952K BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000543502.1_Intron|BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000534400.1_Missense_Mutation_p.E952K NM_015695.2 NP_056510.2 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 952 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 GGAGAATGGCGAGGACCATGG 0.602000 9 79 0 0 1 0 0 LRRN3 54674 broad.mit.edu 37 7 110763381 110763381 + Missense_Mutation SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr7:110763381G>A ENST00000451085.1 + 4 1599 c.553G>A c.(553-555)Gat>Aat p.D185N LRRN3_ENST00000308478.5_Missense_Mutation_p.D185N|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.D185N|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000452895.1_Intron NM_001099660.1 NP_001093130.1 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 185 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) TAAGTGGTTTGATGCTCTTCC 0.378000 8 90 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100523442 100523442 + Silent SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr8:100523442G>A ENST00000358544.2 + 29 4521 c.4410G>A c.(4408-4410)gaG>gaA p.E1470E VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.E1445E NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1470 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CAAGAAATGAGCGAAGAAGTT 0.373000 21 104 0 0 1 0 0 LMNA 4000 broad.mit.edu 37 1 156100425 156100425 + Missense_Mutation SNP G G C TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr1:156100425G>C ENST00000368300.4 + 2 586 c.374G>C c.(373-375)gGt>gCt p.G125A LMNA_ENST00000448611.2_Missense_Mutation_p.G13A|LMNA_ENST00000368301.2_Missense_Mutation_p.G125A|LMNA_ENST00000473598.2_Missense_Mutation_p.G26A|LMNA_ENST00000392353.3_Missense_Mutation_p.G44A|LMNA_ENST00000368297.1_Missense_Mutation_p.G44A|LMNA_ENST00000368299.3_Missense_Mutation_p.G125A|LMNA_ENST00000361308.4_Missense_Mutation_p.G125A|LMNA_ENST00000347559.2_Missense_Mutation_p.G125A NM_170707.3 NP_733821.1 P02545 LMNA_HUMAN lamin A/C 125 Coil 1B.|Interaction with MLIP.|Rod. cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm protein binding|structural molecule activity NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4) 10 Hepatocellular(266;0.158) AAGAAGGAGGGTGACCTGATA 0.567000 Werner syndrome;Hutchinson-Gilford Progeria Syndrome OREG0013866 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 91 0 0 1 0 0 CACNG4 27092 broad.mit.edu 37 17 64961156 64961156 + Silent SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr17:64961156C>T ENST00000262138.3 + 1 131 c.129C>T c.(127-129)ggC>ggT p.G43G NM_014405.3 NP_055220.1 Q9UBN1 CCG4_HUMAN calcium channel, voltage-dependent, gamma subunit 4 43 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane voltage-gated calcium channel activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3) 19 all_cancers(12;9.86e-11) BRCA - Breast invasive adenocarcinoma(6;1.35e-07) TCTGCAACGGCACCAACCTGA 0.692000 3 10 0 0 1 0 0 ZBTB20 26137 broad.mit.edu 37 3 114070207 114070207 + Missense_Mutation SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr3:114070207C>T ENST00000462705.1 - 11 1320 c.499G>A c.(499-501)Gtg>Atg p.V167M ZBTB20_ENST00000471418.1_Missense_Mutation_p.V167M|ZBTB20_ENST00000474710.1_Missense_Mutation_p.V240M|ZBTB20_ENST00000481632.1_Missense_Mutation_p.V167M|ZBTB20_ENST00000357258.3_Missense_Mutation_p.V167M|ZBTB20_ENST00000464560.1_Missense_Mutation_p.V167M|ZBTB20_ENST00000393785.2_Missense_Mutation_p.V167M NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 240 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) ATCCTGTCCACGCTGTGCTGT 0.662000 8 123 0 0 1 0 0 RC3H1 149041 broad.mit.edu 37 1 173952700 173952702 + In_Frame_Del DEL CTT CTT - TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr1:173952700_173952702delCTT ENST00000367696.2 - 4 797_799 c.446_448delAAG c.(445-450)ggc>g p.EG149del RC3H1_ENST00000367694.2_In_Frame_Del_p.EG149del|RC3H1_ENST00000258349.4_In_Frame_Del_p.EG149del Q5TC82 RC3H1_HUMAN ring finger and CCCH-type domains 1 149 cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 50 CGAATCCTGCCTTCTTCTTCTAC 0.483 28 87 --- --- --- --- TMEM131 23505 broad.mit.edu 37 2 98427639 98427639 + Frame_Shift_Del DEL T T - TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr2:98427639delT ENST00000186436.5 - 18 2148 c.1920delA c.(1918-1920)aafs p.K640fs NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 640 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 TCCCCTCTAATTTTTTTGCAG 0.393 7 272 --- --- --- --- DBN1 1627 broad.mit.edu 37 5 176894605 176894605 + Frame_Shift_Del DEL G G - TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr5:176894605delG ENST00000292385.5 - 6 969 c.360delC c.(358-360)gcfs p.A120fs DBN1_ENST00000393565.1_Frame_Shift_Del_p.A118fs|DBN1_ENST00000309007.5_Frame_Shift_Del_p.A118fs NM_080881.2 NP_543157.1 Q16643 DREB_HUMAN drebrin 1 118 ADF-H. actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity actomyosin|cytoplasm|dendrite actin binding|profilin binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2) 25 all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCACGCTGCTGGCGTTCACGA 0.677 2 4 --- --- --- --- ZCCHC3 85364 broad.mit.edu 37 20 278688 278690 + In_Frame_Del DEL CGG CGG - rs63544660 TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr20:278688_278690delCGG ENST00000382352.3 + 1 952_954 c.461_463delCGG c.(460-465)ccg>c p.PA154del NM_033089.6 NP_149080.2 Q9NUD5 ZCHC3_HUMAN zinc finger, CCHC domain containing 3 154 nucleic acid binding|zinc ion binding p.A159delA(3) endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) CAGGATGAgccggcggcggcggc 0.768 4 2 --- --- --- --- SCAF4 57466 broad.mit.edu 37 21 33060662 33060663 + Frame_Shift_Ins INS - - G TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2aa1f6c7-5def-4e59-b997-2cc47a32e7a5 8e2894fc-b325-49e8-afd3-b9c2b10ec1e2 g.chr21:33060662_33060663insG ENST00000286835.7 - 16 2382_2383 c.2000_2001insC c.(1999-2001)cccfs p.P667fs SCAF4_ENST00000399804.1_Frame_Shift_Ins_p.P667fs|SCAF4_ENST00000434667.3_Frame_Shift_Ins_p.P652fs NM_020706.2 NP_065757.1 O95104 SFR15_HUMAN SR-related CTD-associated factor 4 667 nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 CAGGAATAGGAGGGACAGGCAC 0.450 42 132 --- --- --- ---