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 SMARCAD1 56916 broad.mit.edu 37 4 95204449 95204449 + Missense_Mutation SNP G G T TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr4:95204449G>T ENST00000354268.4 + 22 2977 c.2904G>T c.(2902-2904)caG>caT p.Q968H SMARCAD1_ENST00000457823.2_Missense_Mutation_p.Q970H|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.Q538H Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 968 Helicase C-terminal. chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) GAGTAGGCCAGACTAAGTAAG 0.333000 3 36 1.23904e-05 1.32164e-05 1 1 0 PACS2 23241 broad.mit.edu 37 14 105818770 105818770 + Missense_Mutation SNP T T C TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr14:105818770T>C ENST00000447393.1 + 3 438 c.263T>C c.(262-264)gTg>gCg p.V88A PACS2_ENST00000458164.2_Missense_Mutation_p.V88A|PACS2_ENST00000430725.2_Missense_Mutation_p.V21A|PACS2_ENST00000325438.8_Missense_Mutation_p.V88A|PACS2_ENST00000547217.1_Intron NM_015197.3 NP_056012.2 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 88 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 21 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) AGTGGACAAGTGGAGACAGAC 0.567000 OREG0022968 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 93 0 0 1 0 0 SNHG14 0 broad.mit.edu 37 15 25332934 25332934 + RNA SNP G G T rs112202902 by1000genomes TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr15:25332934G>T ENST00000546682.1 + 0 586 SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA NR_003361.1 AGACAGAGAAGGCCAACATCC 0.483000 71 153 1.50372e-20 1.71854e-20 1 1 0 PTCHD4 442213 broad.mit.edu 37 6 47846814 47846814 + Missense_Mutation SNP C C T TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr6:47846814C>T ENST00000339488.4 - 3 1799 c.1766G>A c.(1765-1767)cGa>cAa p.R589Q NM_001013732.3 NP_001013754.3 Q6ZW05 CF138_HUMAN patched domain containing 4 589 integral to membrane hedgehog receptor activity GATATCATTTCGAAAATGCTG 0.423000 9 29 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887308 12887308 + Silent SNP C C T TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr1:12887308C>T ENST00000535591.1 - 3 744 c.549G>A c.(547-549)caG>caA p.Q183Q NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 183 p.Q183H(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 ATGGGGTAAACTGTGTCAGGA 0.498000 9 324 0 0 1 0 0 NEK4 6787 broad.mit.edu 37 3 52786023 52786023 + Missense_Mutation SNP G G C TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr3:52786023G>C ENST00000233027.5 - 7 1495 c.1293C>G c.(1291-1293)gaC>gaG p.D431E NEK4_ENST00000383721.4_Missense_Mutation_p.D431E|NEK4_ENST00000535191.1_Missense_Mutation_p.D342E NM_001193533.1|NM_003157.4 NP_001180462.1|NP_003148.2 P51957 NEK4_HUMAN NIMA-related kinase 4 431 cell division|mitosis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10) 26 BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513) CAGTGACAATGTCAGAGGACC 0.468000 63 149 0 0 1 0 0 MIR100 0 broad.mit.edu 37 11 122023002 122023002 + RNA SNP G G A TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr11:122023002G>A ENST00000385259.1 - 0 14 NR_029515.1 GGATCTACGGGTTTGTGGCAA 0.418000 12 49 0 0 1 0 0 EPB41L2 2037 broad.mit.edu 37 6 131191226 131191226 + Missense_Mutation SNP C C T TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr6:131191226C>T ENST00000337057.3 - 15 2265 c.2084G>A c.(2083-2085)cGg>cAg p.R695Q EPB41L2_ENST00000527411.1_Missense_Mutation_p.R625Q|EPB41L2_ENST00000530481.1_Missense_Mutation_p.R625Q|EPB41L2_ENST00000527659.1_Missense_Mutation_p.R625Q|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.R73Q|EPB41L2_ENST00000529208.1_Missense_Mutation_p.R625Q|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R695Q|EPB41L2_ENST00000528282.1_Intron NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 695 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) AACCTCTGCCCGCTTCTTCTC 0.408000 8 41 0 0 1 0 0 SPANXN1 494118 broad.mit.edu 37 X 144337277 144337277 + Silent SNP T T C TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chrX:144337277T>C ENST00000370493.3 + 2 921 c.162T>C c.(160-162)ttT>ttC p.F54F NM_001009614.2 NP_001009614.1 Q5VSR9 SPXN1_HUMAN SPANX family, member N1 54 endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) TATTAGCGTTTTGCTACAGGA 0.433000 3 56 0 0 1 0 0 TMEM5 10329 broad.mit.edu 37 12 64174844 64174844 + Missense_Mutation SNP A A G TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr12:64174844A>G ENST00000261234.6 + 2 373 c.215A>G c.(214-216)gAt>gGt p.D72G TMEM5_ENST00000537373.1_5'UTR|TMEM5_ENST00000537982.1_3'UTR|RP11-415I12.3_ENST00000509615.2_RNA NM_014254.1 NP_055069.1 Q9Y2B1 TMEM5_HUMAN transmembrane protein 5 72 integral to plasma membrane breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1) 15 Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(9;0.0985) GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175) TGGGAAGGAGATGAAAAAAAT 0.348000 19 51 0 0 1 0 0 CYP2C9 1559 broad.mit.edu 37 10 96731943 96731943 + Missense_Mutation SNP C C T TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr10:96731943C>T ENST00000260682.6 + 6 914 c.902C>T c.(901-903)aCg>aTg p.T301M NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 301 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) GGGACAGAGACGACAAGCACA 0.418000 26 74 0 0 1 0 0 CHRNA1 1134 broad.mit.edu 37 2 175618303 175618303 + Missense_Mutation SNP C C T TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr2:175618303C>T ENST00000348749.5 - 6 783 c.706G>A c.(706-708)Gtc>Atc p.V236I AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409323.1_Missense_Mutation_p.V236I|CHRNA1_ENST00000261007.5_Missense_Mutation_p.V261I|CHRNA1_ENST00000409219.1_Missense_Mutation_p.V236I|CHRNA1_ENST00000409542.1_Missense_Mutation_p.V154I NM_000079.3 NP_000070.1 P02708 ACHA_HUMAN cholinergic receptor, nicotinic, alpha 1 (muscle) 261 muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4) 37 ATGACGTTGACGATGAAGTAG 0.582000 16 69 0 0 1 0 0 CADM3 57863 broad.mit.edu 37 1 159162404 159162404 + Missense_Mutation SNP C C T TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr1:159162404C>T ENST00000368125.4 + 3 423 c.266C>T c.(265-267)aCg>aTg p.T89M CADM3_ENST00000368124.4_Missense_Mutation_p.T123M NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 89 Ig-like V-type. adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity p.T123M(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) GTTACCTCTACGCCCCACGAG 0.507000 16 43 0 0 1 0 0 CLCN5 1184 broad.mit.edu 37 X 49689925 49689925 + Splice_Site SNP G G T TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chrX:49689925G>T ENST00000376088.3 + 3 657 c.e3+1 CLCN5_ENST00000482218.1_Splice_Site|CLCN5_ENST00000376091.3_Splice_Site NM_001127898.1|NM_001127899.1 NP_001121370.1|NP_001121371.1 P51795 CLCN5_HUMAN chloride channel, voltage-sensitive 5 excretion apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane antiporter activity|ATP binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1) 30 Ovarian(276;0.236) ATGTGGCAGGGTAAGAAATTA 0.507000 19 25 1.64113e-05 1.69407e-05 1 1 0 COL5A1 1289 broad.mit.edu 37 9 137642401 137642401 + Missense_Mutation SNP G G A rs146716315 TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr9:137642401G>A ENST00000371817.3 + 12 1922 c.1508G>A c.(1507-1509)cGc>cAc p.R503H NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 503 Interrupted collagenous region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CCCCCTGGACGCCCAGGCCTT 0.662000 12 36 0 0 1 0 0 DZIP1L 199221 broad.mit.edu 37 3 137802957 137802957 + Missense_Mutation SNP T T A TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr3:137802957T>A ENST00000327532.2 - 8 1563 c.1201A>T c.(1201-1203)Atg>Ttg p.M401L DZIP1L_ENST00000488595.1_Intron|DZIP1L_ENST00000469243.1_Missense_Mutation_p.M401L NM_173543.2 NP_775814.2 Q8IYY4 DZI1L_HUMAN DAZ interacting zinc finger protein 1-like 401 intracellular zinc ion binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1) 35 AGACCTACCATCTCCTCCTGG 0.567000 20 65 0 0 1 0 0 SUSD1 64420 broad.mit.edu 37 9 114820961 114820961 + Missense_Mutation SNP T T C TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr9:114820961T>C ENST00000374270.3 - 14 2028 c.1856A>G c.(1855-1857)tAt>tGt p.Y619C SUSD1_ENST00000374263.3_Missense_Mutation_p.Y619C|SUSD1_ENST00000374264.2_Missense_Mutation_p.Y619C NM_022486.3 NP_071931.2 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 619 integral to membrane calcium ion binding SUSD1/ROD1(2) central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 TAACACCTGATATGAACTGGA 0.453000 8 50 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577102 7577102 + Missense_Mutation SNP C C T TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr17:7577102C>T ENST00000420246.2 - 8 968 c.836G>A c.(835-837)gGg>gAg p.G279E TP53_ENST00000445888.2_Missense_Mutation_p.G279E|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.G279E|TP53_ENST00000269305.4_Missense_Mutation_p.G279E|TP53_ENST00000455263.2_Missense_Mutation_p.G279E NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 279 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> W (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G279E(32)|p.0?(8)|p.G279V(4)|p.?(2)|p.G279fs*65(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.G279fs*26(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCGGTCTCTCCCAGGACAGGC 0.547000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 7 7 0 0 1 0 0 EIF4E3 317649 broad.mit.edu 37 3 71745611 71745611 + Splice_Site SNP C C T TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr3:71745611C>T ENST00000448225.1 - 5 543 c.87_splice c.e5+1 p.T29_splice EIF4E3_ENST00000295612.3_Splice_Site_p.T29_splice|EIF4E3_ENST00000425534.2_Splice_Site_p.T135_splice|EIF4E3_ENST00000468147.1_Intron|EIF4E3_ENST00000389826.3_Splice_Site_p.T29_splice|EIF4E3_ENST00000421769.2_Splice_Site_p.T29_splice NM_001134649.1 NP_001128121.1 Q8N5X7 IF4E3_HUMAN eukaryotic translation initiation factor 4E family member 3 135 regulation of translation cytoplasm|mRNA cap binding complex translation initiation factor activity large_intestine(1)|lung(3) 4 Prostate(10;0.0166) BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227) AGGAACCTACCGTGCTGTCCT 0.493000 14 47 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 40 0 0 1 0 0 VSIG10 54621 broad.mit.edu 37 12 118533490 118533490 + Missense_Mutation SNP T T C TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr12:118533490T>C ENST00000359236.5 - 2 485 c.209A>G c.(208-210)aAc>aGc p.N70S VSIG10_ENST00000536905.1_5'UTR NM_019086.5 NP_061959.2 Q8N0Z9 VSI10_HUMAN V-set and immunoglobulin domain containing 10 70 Ig-like C2-type 1. integral to membrane endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1) 17 GAGGCTAGAGTTGGACGAGAG 0.572000 10 24 0 0 1 0 0 IFT122 55764 broad.mit.edu 37 3 129182397 129182397 + Missense_Mutation SNP T T C TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr3:129182397T>C ENST00000504021.1 + 4 297 c.203T>C c.(202-204)aTt>aCt p.I68T IFT122_ENST00000296266.3_Intron|IFT122_ENST00000349441.2_Intron|IFT122_ENST00000431818.2_Intron|IFT122_ENST00000347300.2_Intron|IFT122_ENST00000507564.1_Intron|IFT122_ENST00000440957.2_Intron|IFT122_ENST00000348417.2_Intron Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 99 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 TTATTGTGCATTGAAGGGTTG 0.388000 22 49 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9049442 9049442 + Missense_Mutation SNP G G A TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr19:9049442G>A ENST00000397910.4 - 5 32392 c.32189C>T c.(32188-32190)tCa>tTa p.S10730L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10732 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGCACCAGGTGAGACAGTCAT 0.453000 58 157 0 0 1 0 0 ESR1 2099 broad.mit.edu 37 6 152420002 152420002 + Silent SNP G G A rs147982903 TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr6:152420002G>A ENST00000440973.1 + 10 2059 c.1689G>A c.(1687-1689)acG>acA p.T563T ESR1_ENST00000456483.2_Silent_p.T451T|ESR1_ENST00000338799.5_Silent_p.T563T|ESR1_ENST00000544394.1_Intron|ESR1_ENST00000443427.1_Silent_p.T563T|ESR1_ENST00000406599.1_Silent_p.T302T|ESR1_ENST00000206249.3_Silent_p.T563T NM_001122742.1 NP_001116214.1 P03372 ESR1_HUMAN estrogen receptor 1 563 Interaction with AKAP13. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1) 49 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) TGGAGGAGACGGACCAAAGCC 0.607000 3 42 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61848065 61848065 + Missense_Mutation SNP G G A TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr10:61848065G>A ENST00000280772.1 - 29 3571 c.3380C>T c.(3379-3381)aCg>aTg p.T1127M ANK3_ENST00000373827.2_Missense_Mutation_p.T1121M|ANK3_ENST00000355288.2_Missense_Mutation_p.T261M|ANK3_ENST00000503366.1_Missense_Mutation_p.T1128M NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1127 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GAAATCTTTCGTGATAATCCT 0.433000 36 53 0 0 1 0 0 ADAM10 102 broad.mit.edu 37 15 58925526 58925526 + Missense_Mutation SNP G G A TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr15:58925526G>A ENST00000260408.3 - 9 1488 c.1045C>T c.(1045-1047)Ctc>Ttc p.L349F ADAM10_ENST00000396140.2_Missense_Mutation_p.L48F|ADAM10_ENST00000402627.1_Missense_Mutation_p.L48F|ADAM10_ENST00000561288.1_Intron NM_001110.2 NP_001101.1 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 349 Peptidase M12B. cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3) 27 GBM - Glioblastoma multiforme(80;0.202) TCTGAATAGAGTTTACTTTTT 0.368000 17 46 0 0 1 0 0 ETV6 2120 broad.mit.edu 37 12 12038866 12038866 + Missense_Mutation SNP A A G TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr12:12038866A>G ENST00000396373.4 + 7 1433 c.1159A>G c.(1159-1161)Aca>Gca p.T387A NM_001987.4 NP_001978.1 P41212 ETV6_HUMAN ets variant 6 387 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) ACAGAACAGAACAAACATGAC 0.418000 T """NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5""" """congenital fibrosarcoma, multiple leukemia and lymphoma, secretory breast, MDS, ALL""" 7 74 0 0 1 0 0 LIMCH1 22998 broad.mit.edu 37 4 41682030 41682030 + Frame_Shift_Del DEL A A - TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr4:41682030delA ENST00000313860.7 + 19 2429 c.2375delA c.(2374-2376)tcfs p.Y792fs LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.Y625fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.Y792fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.Y637fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.Y804fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.Y625fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.Y632fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.Y645fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.Y1176fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.Y715fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.Y632fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.Y791fs NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 792 Glu-rich. actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 CAGGAGAGATACCAGAAGGAG 0.448 2 4 --- --- --- --- SP8 221833 broad.mit.edu 37 7 20824941 20824943 + In_Frame_Del DEL GCC GCC - TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr7:20824941_20824943delGCC ENST00000361443.4 - 3 676_678 c.439_441delGGC c.(439-441)del p.G147del SP8_ENST00000418710.2_In_Frame_Del_p.G165del NM_198956.2 NP_945194.1 Q8IXZ3 SP8_HUMAN Sp8 transcription factor 147 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G165delG(1)|p.G147delG(1) NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 8 GCGCGGAGGAgccgccgccgccg 0.729 5 3 --- --- --- --- CREB3L2 64764 broad.mit.edu 37 7 137569752 137569752 + Frame_Shift_Del DEL G G - TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr7:137569752delG ENST00000330387.6 - 10 1610 c.1259delC c.(1258-1260)aafs p.T420fs CREB3L2_ENST00000456390.1_Frame_Shift_Del_p.T420fs NM_194071.3 NP_919047.2 Q70SY1 CR3L2_HUMAN cAMP responsive element binding protein 3-like 2 420 chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L2(158) breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 CACGGAGGCTGTGTAGGGCTC 0.532 T FUS fibromyxoid sarcoma 16 71 --- --- --- --- ZNF408 79797 broad.mit.edu 37 11 46727386 46727386 + Frame_Shift_Del DEL G G - TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr11:46727386delG ENST00000311764.2 + 5 2366 c.2136delG c.(2134-2136)gafs p.E712fs NM_001184751.1|NM_024741.2 NP_001171680.1|NP_079017.1 Q9H9D4 ZN408_HUMAN zinc finger protein 408 712 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CCTGGGCAGAGGTGGTGGAGG 0.572 2 4 --- --- --- --- ZNF568 374900 broad.mit.edu 37 19 37487845 37487845 + Frame_Shift_Del DEL A A - TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr19:37487845delA ENST00000455427.2 + 9 1389 c.1060delA c.(1060-1062)ctfs p.T354fs NM_001204839.1 NP_001191768.1 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 441 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GAGGATCCATACTGATGAGAA 0.468 2 4 --- --- --- --- SLC38A5 92745 broad.mit.edu 37 X 48317961 48317961 + Frame_Shift_Del DEL G G - TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chrX:48317961delG ENST00000376876.3 - 15 2121 c.1278delC c.(1276-1278)ccfs p.P426fs SLC38A5_ENST00000480105.1_5'UTR|SLC38A5_ENST00000376875.1_Frame_Shift_Del_p.P375fs|SLC38A5_ENST00000317669.5_Frame_Shift_Del_p.P426fs Q8WUX1 S38A5_HUMAN solute carrier family 38, member 5 426 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1) 19 CCACCTCAGAGGGTACAATGC 0.567 2 4 --- --- --- ---