#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_classification	i_context	i_dataset	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_type
ABCB1	5243	hgsc.bcm.edu	37	7	87144682	87144682	+	Silent	SNP	G	G	A	rs140661329		TCGA-13-0730-01	TCGA-13-0730-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr7:87144682G>A	ENST00000265724.3	-	26	3564	c.3147C>T	c.(3145-3147)gaC>gaT	p.D1049D	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Silent_p.D985D	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1049	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.D1049D(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GCACTGGGATGTCCGGTCGGG	0.517																																																1	Substitution - coding silent(1)	ovary(1)	7						G		1,4405	2.1+/-5.4	0,1,2202	74.0	67.0	70.0		3147	2.1	0.9	7	dbSNP_134	70	0,8600		0,0,4300	no	coding-synonymous	ABCB1	NM_000927.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1049/1281	87144682	1,13005	2203	4300	6503	86982618	SO:0001819	synonymous_variant	5243			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.3147C>T	7.37:g.87144682G>A			86982618	A8K294|B5AK60|Q12755|Q14812	Silent	SNP	ENST00000265724.3	37	CCDS5608.1	SNP	48	Baylor																																																																																				0.517	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		Silent
AGAP3	116988	hgsc.bcm.edu	37	7	150815313	150815313	+	Silent	SNP	G	G	A	rs374773519		TCGA-13-0730-01	TCGA-13-0730-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr7:150815313G>A	ENST00000463381.1	+	6	535	c.39G>A	c.(37-39)gcG>gcA	p.A13A	AGAP3_ENST00000335367.3_Silent_p.A421A|AGAP3_ENST00000479901.1_Silent_p.A241A|AGAP3_ENST00000476375.1_3'UTR|AGAP3_ENST00000397238.2_Silent_p.A241A|AGAP3_ENST00000473312.1_Silent_p.A241A	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	205					cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)	p.A241A(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TCAGCGCTGCGAATCCCCGGG	0.612																																																1	Substitution - coding silent(1)	ovary(1)	7						G	,	1,4237		0,1,2118	57.0	66.0	63.0		723,723	-5.8	0.9	7		63	0,8498		0,0,4249	no	coding-synonymous,coding-synonymous	AGAP3	NM_001042535.1,NM_031946.4	,	0,1,6367	AA,AG,GG		0.0,0.0236,0.0079	,	241/397,241/912	150815313	1,12735	2119	4249	6368	150446246	SO:0001819	synonymous_variant	116988			AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.39G>A	7.37:g.150815313G>A			150446246	B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Silent	SNP	ENST00000463381.1	37		SNP	37	Baylor	.	.	.	.	.	.	.	.	.	.	G	2.514	-0.312404	0.05422	2.36E-4	0.0	ENSG00000133612	ENST00000469901	.	.	.	4.21	-5.84	0.02318	.	.	.	.	.	T	0.36110	0.0955	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41088	-0.9528	4	.	.	.	.	1.727	0.02924	0.398:0.2979:0.1583:0.1458	.	.	.	.	Q	177	.	.	R	+	2	0	AGAP3	150446246	0.000000	0.05858	0.863000	0.33907	0.002000	0.02628	-1.883000	0.01623	-0.790000	0.04492	-0.657000	0.03884	CGA		0.612	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		Silent
ALK	238	hgsc.bcm.edu	37	2	29416770	29416770	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0730-01	TCGA-13-0730-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr2:29416770T>A	ENST00000389048.3	-	29	5089	c.4183A>T	c.(4183-4185)Acc>Tcc	p.T1395S	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1395					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T1395S(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GGCAAAGCGGTGTTGATTACA	0.463			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	1	Substitution - Missense(1)	ovary(1)	2											37.0	41.0	39.0					2																	29416770		2200	4296	6496	29270274	SO:0001583	missense	238	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.4183A>T	2.37:g.29416770T>A	ENSP00000373700:p.Thr1395Ser		29270274	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	CCDS33172.1	SNP	59	Baylor	.	.	.	.	.	.	.	.	.	.	t	11.97	1.798300	0.31777	.	.	ENSG00000171094	ENST00000389048	T	0.77877	-1.13	5.37	5.37	0.77165	.	0.000000	0.49305	U	0.000149	T	0.68118	0.2966	L	0.34521	1.04	0.80722	D	1	B	0.16396	0.017	B	0.16289	0.015	T	0.62918	-0.6752	9	.	.	.	.	15.3981	0.74812	0.0:0.0:0.0:1.0	.	1395	Q9UM73	ALK_HUMAN	S	1395	ENSP00000373700:T1395S	.	T	-	1	0	ALK	29270274	1.000000	0.71417	0.985000	0.45067	0.294000	0.27393	4.840000	0.62817	2.043000	0.60533	0.454000	0.30748	ACC		0.463	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		Missense_Mutation
APC	324	hgsc.bcm.edu	37	5	112175446	112175446	+	Silent	SNP	C	C	T			TCGA-13-0730-01	TCGA-13-0730-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr5:112175446C>T	ENST00000457016.1	+	16	4535	c.4155C>T	c.(4153-4155)agC>agT	p.S1385S	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Silent_p.S1385S|APC_ENST00000508376.2_Silent_p.S1385S			P25054	APC_HUMAN	adenomatous polyposis coli	1385	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.C1387fs*1(2)|p.Y1376fs*41(1)|p.K1192fs*3(1)|p.?(1)|p.R1386fs*9(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCATGTTTAGCAGATGTACTT	0.448		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	6	Insertion - Frameshift(3)|Deletion - Frameshift(2)|Unknown(1)	large_intestine(4)|soft_tissue(1)|skin(1)	5											100.0	95.0	97.0					5																	112175446		2202	4300	6502	112203345	SO:0001819	synonymous_variant	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4155C>T	5.37:g.112175446C>T			112203345	D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	CCDS4107.1	SNP	25	Baylor																																																																																				0.448	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		Silent
BRCA1	672	hgsc.bcm.edu	37	17	41197784	41197784	+	Nonsense_Mutation	SNP	G	G	A	rs80359883|rs41293465|rs273902775|rs397509290|rs397509291|rs80359873		TCGA-13-0730-01	TCGA-13-0730-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	Capture	Biotage_PCR_WGA	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr17:41197784G>A	ENST00000357654.3	-	23	5621	c.5503C>T	c.(5503-5505)Cga>Tga	p.R1835*	BRCA1_ENST00000586385.1_Nonsense_Mutation_p.R145*|BRCA1_ENST00000352993.3_Nonsense_Mutation_p.R693*|BRCA1_ENST00000471181.2_Nonsense_Mutation_p.R1856*|BRCA1_ENST00000468300.1_3'UTR|BRCA1_ENST00000591849.1_Nonsense_Mutation_p.R68*|BRCA1_ENST00000309486.4_Nonsense_Mutation_p.R1539*|BRCA1_ENST00000346315.3_Nonsense_Mutation_p.R1596*|BRCA1_ENST00000354071.3_Nonsense_Mutation_p.R1570*|BRCA1_ENST00000491747.2_Nonsense_Mutation_p.R731*|BRCA1_ENST00000591534.1_Nonsense_Mutation_p.R326*|BRCA1_ENST00000493795.1_Nonsense_Mutation_p.R1788*|BRCA1_ENST00000351666.3_Nonsense_Mutation_p.R652*	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1835	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R1835*(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ACCCACTCTCGGGTCACCACA	0.537			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	1	Substitution - Nonsense(1)	ovary(1)	17	GRCh37	CM960190	BRCA1	M	rs41293465						101.0	85.0	90.0					17																	41197784		2203	4300	6503	38451310	SO:0001587	stop_gained	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.5503C>T	17.37:g.41197784G>A	ENSP00000350283:p.Arg1835*		38451310	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Nonsense_Mutation	SNP	ENST00000357654.3	37	CCDS11453.1	SNP	39	Baylor	.	.	.	.	.	.	.	.	.	.	G	37	6.429124	0.97559	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000351666;ENST00000309486;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747	.	.	.	5.32	1.8	0.24995	.	0.158509	0.29624	N	0.011630	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.4745	0.22028	0.099:0.0:0.6472:0.2537	rs41293465	.	.	.	X	1835;1856;1570;693;1596;652;1539;684;1857;1788;730	.	ENSP00000310938:R1539X	R	-	1	2	BRCA1	38451310	0.993000	0.37304	0.996000	0.52242	0.990000	0.78478	0.604000	0.24164	0.155000	0.19261	0.563000	0.77884	CGA		0.537	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		Nonsense_Mutation
CHRM5	1133	hgsc.bcm.edu	37	15	34355342	34355342	+	Missense_Mutation	SNP	C	C	T	rs200634273		TCGA-13-0730-01	TCGA-13-0730-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr15:34355342C>T	ENST00000383263.5	+	3	1094	c.424C>T	c.(424-426)Cgt>Tgt	p.R142C	CHRM5_ENST00000557872.1_Missense_Mutation_p.R142C	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	142					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.R142C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TCGGGCCAAGCGTACTCCGAA	0.527																																																1	Substitution - Missense(1)	ovary(1)	15											100.0	94.0	96.0					15																	34355342		2201	4298	6499	32142634	SO:0001583	missense	1133				CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1954	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 5"""	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.424C>T	15.37:g.34355342C>T	ENSP00000372750:p.Arg142Cys		32142634	Q96RG7	Missense_Mutation	SNP	ENST00000383263.5	37	CCDS10031.1	SNP	27	Baylor	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	17.05	3.291012	0.59976	.	.	ENSG00000184984	ENST00000383263	T	0.39406	1.08	5.54	4.6	0.57074	GPCR, rhodopsin-like superfamily (1);	0.059053	0.64402	D	0.000006	T	0.65943	0.2740	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72054	-0.4406	10	0.87932	D	0	-7.9131	15.7624	0.78096	0.1372:0.8628:0.0:0.0	.	142	P08912	ACM5_HUMAN	C	142	ENSP00000372750:R142C	ENSP00000372750:R142C	R	+	1	0	CHRM5	32142634	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.032000	0.49736	1.523000	0.49018	0.650000	0.86243	CGT		0.527	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2			Missense_Mutation
CHRND	1144	hgsc.bcm.edu	37	2	233393271	233393271	+	Missense_Mutation	SNP	C	C	A	rs150208750	byFrequency	TCGA-13-0730-01	TCGA-13-0730-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr2:233393271C>A	ENST00000258385.3	+	5	446	c.414C>A	c.(412-414)ttC>ttA	p.F138L	CHRND_ENST00000457943.2_Nonsense_Mutation_p.S48*|CHRND_ENST00000543200.1_Missense_Mutation_p.F123L|CHRND_ENST00000536614.1_Missense_Mutation_p.F138L	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	138					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)	p.F138L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	ACTACGGCTTCGTGTACTGGC	0.572																																																1	Substitution - Missense(1)	ovary(1)	2											188.0	174.0	179.0					2																	233393271		2203	4300	6503	233101515	SO:0001583	missense	1144			X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.414C>A	2.37:g.233393271C>A	ENSP00000258385:p.Phe138Leu		233101515	A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	CCDS2494.1	SNP	31	Baylor	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.56|13.56	2.274001|2.274001	0.40194|0.40194	.|.	.|.	ENSG00000135902|ENSG00000135902	ENST00000449596;ENST00000543200;ENST00000258385;ENST00000536614|ENST00000457943	T;T;T;T|.	0.78364|.	-1.17;-1.17;-1.17;-1.17|.	4.29|4.29	-7.77|-7.77	0.01227|0.01227	Neurotransmitter-gated ion-channel ligand-binding (3);|.	1.357730|.	0.04448|.	N|.	0.372131|.	T|.	0.09949|.	0.0244|.	N|N	0.01446|0.01446	-0.86|-0.86	0.80722|0.80722	A|A	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.001|.	T|.	0.42258|.	-0.9462|.	9|.	0.10377|0.07482	T|T	0.69|0.82	.|.	10.5423|10.5423	0.45039|0.45039	0.0:0.5674:0.1239:0.3087|0.0:0.5674:0.1239:0.3087	.|.	123;138|.	B4DT92;Q07001|.	.;ACHD_HUMAN|.	L|X	123;123;138;138|48	ENSP00000404950:F123L;ENSP00000438380:F123L;ENSP00000258385:F138L;ENSP00000437740:F138L|.	ENSP00000258385:F138L|ENSP00000391055:S48X	F|S	+|+	3|2	2|0	CHRND|CHRND	233101515|233101515	0.000000|0.000000	0.05858|0.05858	0.007000|0.007000	0.13788|0.13788	0.136000|0.136000	0.21042|0.21042	-6.173000|-6.173000	0.00077|0.00077	-1.503000|-1.503000	0.01812|0.01812	-1.267000|-1.267000	0.01435|0.01435	TTC|TCG		0.572	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2			Missense_Mutation
CPNE1	8904	hgsc.bcm.edu	37	20	34215234	34215235	+	Frame_Shift_Ins	INS	-	-	A	rs147019139|rs76294482	byFrequency	TCGA-13-0730-01	TCGA-13-0730-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr20:34215234_34215235insA	ENST00000317619.3	-	16	1597_1598	c.1203_1204insT	c.(1201-1206)tttgcafs	p.A402fs	CPNE1_ENST00000317677.5_Frame_Shift_Ins_p.A407fs|CPNE1_ENST00000397442.1_Frame_Shift_Ins_p.A402fs|CPNE1_ENST00000397445.1_Frame_Shift_Ins_p.A402fs|CPNE1_ENST00000397446.1_Frame_Shift_Ins_p.A402fs|CPNE1_ENST00000397443.1_Frame_Shift_Ins_p.A402fs|CPNE1_ENST00000352393.4_Frame_Shift_Ins_p.A402fs			Q99829	CPNE1_HUMAN	copine I	402	VWFA.				lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.A402fs*21(1)		breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GCCTGGGCTGCAAACCTGGCCA	0.589													AAA|AAA|AAAA|insertion	531	0.10603	0.0817	0.1225	5008	,	,		17758	0.0843		0.1014	False		,,,				2504	0.1544															1	Insertion - Frameshift(1)	ovary(1)	20							,,,,,	385,3879		10,365,1757					,,,,,	5.1	1.0		dbSNP_134	92	873,7381		44,785,3298	yes	frameshift,frameshift,frameshift,frameshift,frameshift,frameshift	CPNE1	NM_152928.2,NM_152927.2,NM_152926.2,NM_152925.2,NM_003915.5,NM_001198863.1	,,,,,	54,1150,5055	A1A1,A1R,RR		10.5767,9.0291,10.0495	,,,,,	,,,,,		1258,11260				33678649	SO:0001589	frameshift_variant	8904			U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.1204dupT	20.37:g.34215237_34215237dupA	ENSP00000326126:p.Ala402fs		33678648	E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Frame_Shift_Ins	INS	ENST00000317619.3	37	CCDS13260.1	INS	25	Baylor																																																																																				0.589	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078909.3	NM_152930		Frame_Shift_Ins
DHX29	54505	hgsc.bcm.edu	37	5	54579410	54579410	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0730-01	TCGA-13-0730-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr5:54579410G>A	ENST00000251636.5	-	11	1734	c.1586C>T	c.(1585-1587)tCg>tTg	p.S529L	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	529						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)	p.S529L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				ATCCTCATCCGAAACTAAATT	0.393																																																1	Substitution - Missense(1)	ovary(1)	5											116.0	119.0	118.0					5																	54579410		2203	4300	6503	54615167	SO:0001583	missense	54505			AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.1586C>T	5.37:g.54579410G>A	ENSP00000251636:p.Ser529Leu		54615167	O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	37	CCDS34158.1	SNP	37	Baylor	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587875	0.46110	.	.	ENSG00000067248	ENST00000251636	T	0.03553	3.89	5.41	5.41	0.78517	.	0.396865	0.28382	N	0.015559	T	0.02649	0.0080	N	0.14661	0.345	0.38513	D	0.948518	B	0.28605	0.217	B	0.19666	0.026	T	0.57723	-0.7762	10	0.15066	T	0.55	.	14.7587	0.69590	0.0:0.1443:0.8557:0.0	.	529	Q7Z478	DHX29_HUMAN	L	529	ENSP00000251636:S529L	ENSP00000251636:S529L	S	-	2	0	DHX29	54615167	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.841000	0.55850	2.539000	0.85634	0.591000	0.81541	TCG		0.393	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		Missense_Mutation
ELOVL1	64834	hgsc.bcm.edu	37	1	43830256	43830256	+	Silent	SNP	A	A	T			TCGA-13-0730-01	TCGA-13-0730-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr1:43830256A>T	ENST00000372458.3	-	6	555	c.438T>A	c.(436-438)tcT>tcA	p.S146S	ELOVL1_ENST00000470769.1_5'UTR|ELOVL1_ENST00000413844.2_Silent_p.S119S	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	146					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGGAAGCACAGAGTGATGGA	0.557																																																0			1											101.0	103.0	102.0					1																	43830256		2203	4300	6503	43602843	SO:0001819	synonymous_variant	64834			AK001653	CCDS485.1, CCDS57987.1	1p34	2011-05-25	2011-05-25		ENSG00000066322	ENSG00000066322			14418	protein-coding gene	gene with protein product		611813	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1"""				Standard	NM_022821		Approved	Ssc1	uc031pmf.1	Q9BW60	OTTHUMG00000007422	ENST00000372458.3:c.438T>A	1.37:g.43830256A>T			43602843	B4DP24|Q53HT2|Q5JUY3|Q8WXU3|Q9NVD9|Q9Y396	Silent	SNP	ENST00000372458.3	37	CCDS485.1	SNP	7	Baylor																																																																																				0.557	ELOVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019496.1	NM_022821		Silent
METTL21A	151194	hgsc.bcm.edu	37	2	208488953	208488953	+	Splice_Site	SNP	C	C	T			TCGA-13-0730-01	TCGA-13-0730-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr2:208488953C>T	ENST00000411432.1	-	2	363	c.147G>A	c.(145-147)gcG>gcA	p.A49A	METTL21A_ENST00000426075.1_Splice_Site_p.A49A|METTL21A_ENST00000448007.2_Splice_Site_p.A49A|METTL21A_ENST00000442521.1_Splice_Site_p.A49A|METTL21A_ENST00000272839.3_Splice_Site_p.A49A|METTL21A_ENST00000432416.1_Splice_Site_p.A49A|METTL21A_ENST00000406927.2_Splice_Site_p.A49A|METTL21A_ENST00000458426.1_Splice_Site_p.A49A|METTL21A_ENST00000425132.1_Splice_Site_p.A49A|METTL21A_ENST00000448823.2_Splice_Site_p.A49A	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	49					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	cytoplasm (GO:0005737)	ATPase binding (GO:0051117)|Hsp70 protein binding (GO:0030544)|protein-lysine N-methyltransferase activity (GO:0016279)	p.A49A(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						GCTTACTTACCGCATCCCAAA	0.448																																																1	Substitution - coding silent(1)	ovary(1)	2											66.0	68.0	68.0					2																	208488953		2203	4300	6503	208197198	SO:0001630	splice_region_variant	151194			AK093812, AF455817	CCDS2376.1	2q33.3	2013-09-30	2011-03-03	2011-03-03	ENSG00000144401	ENSG00000144401			30476	protein-coding gene	gene with protein product	"""Hepatocellular carcinoma-associated antigen 557b"", ""heat shock protein 70kDa lysine (K) methyltransferase"""	615257	"""family with sequence similarity 119, member A"""	FAM119A		23921388	Standard	NM_145280		Approved	LOC151194, HCA557b, HSPA-KMT	uc010fuk.1	Q8WXB1	OTTHUMG00000132934	ENST00000411432.1:c.147+1G>A	2.37:g.208488953C>T			208197198	Q53RV0|Q8N1Z9|Q96GH6	Silent	SNP	ENST00000411432.1	37	CCDS2376.1	SNP	23	Baylor																																																																																				0.448	METTL21A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337044.1	NM_145280	Silent	Silent
BRINP3	339479	hgsc.bcm.edu	37	1	190129882	190129882	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0730-01	TCGA-13-0730-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr1:190129882A>G	ENST00000367462.3	-	7	1331	c.1100T>C	c.(1099-1101)cTa>cCa	p.L367P	BRINP3_ENST00000534846.1_Missense_Mutation_p.L265P	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	367					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.L367P(1)									CTGCGCCTTTAGGAAAAGTTG	0.398																																																1	Substitution - Missense(1)	ovary(1)	1											144.0	147.0	146.0					1																	190129882		2203	4300	6503	188396505	SO:0001583	missense	339479			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1100T>C	1.37:g.190129882A>G	ENSP00000356432:p.Leu367Pro		188396505	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	CCDS1373.1	SNP	15	Baylor	.	.	.	.	.	.	.	.	.	.	A	10.19	1.281173	0.23392	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.18502	2.48;2.21	5.75	4.61	0.57282	.	0.333619	0.29126	N	0.013074	T	0.08044	0.0201	N	0.11255	0.115	0.49915	D	0.999831	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.24083	-1.0170	10	0.30078	T	0.28	.	5.2473	0.15504	0.7598:0.0:0.0823:0.1578	.	265;367	B7Z260;Q76B58	.;FAM5C_HUMAN	P	367;265	ENSP00000356432:L367P;ENSP00000438022:L265P	ENSP00000356432:L367P	L	-	2	0	FAM5C	188396505	0.995000	0.38212	0.944000	0.38274	0.972000	0.66771	3.312000	0.51927	0.983000	0.38602	0.467000	0.42956	CTA		0.398	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		Missense_Mutation
GCKR	2646	hgsc.bcm.edu	37	2	27722272	27722272	+	Silent	SNP	C	C	T	rs189485742		TCGA-13-0730-01	TCGA-13-0730-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr2:27722272C>T	ENST00000264717.2	+	7	567	c.504C>T	c.(502-504)gcC>gcT	p.A168A	GCKR_ENST00000424318.2_5'UTR	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	168	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)	p.A168A(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					AGGTGGCTGCCGGGAAGAAGA	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		20425	0.0		0.001	False		,,,				2504	0.0															1	Substitution - coding silent(1)	ovary(1)	2						C		0,4406		0,0,2203	237.0	225.0	229.0		504	-4.7	1.0	2		229	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GCKR	NM_001486.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		168/626	27722272	1,13005	2203	4300	6503	27575776	SO:0001819	synonymous_variant	2646			Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.504C>T	2.37:g.27722272C>T			27575776	A1L4C2|B4DPQ2|Q53RY6|Q99522	Silent	SNP	ENST00000264717.2	37	CCDS1757.1	SNP	23	Baylor																																																																																				0.498	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486		Silent
HAGH	3029	hgsc.bcm.edu	37	16	1872925	1872925	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0730-01	TCGA-13-0730-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	Capture	454_PCR_WGA	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr16:1872925G>C	ENST00000397356.3	-	2	596	c.190C>G	c.(190-192)Ctg>Gtg	p.L64V	HAGH_ENST00000455446.2_Missense_Mutation_p.L64V|HAGH_ENST00000397353.2_Missense_Mutation_p.L16V|HAGH_ENST00000566709.1_Missense_Mutation_p.L16V	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	64					glutathione biosynthetic process (GO:0006750)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)	p.L16V(1)		kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	TCAATGACCAGGTACATGTAG	0.592																																					Pancreas(55;1048 1176 25227 40124 41333)											1	Substitution - Missense(1)	ovary(1)	16											165.0	133.0	144.0					16																	1872925		2199	4300	6499	1812926	SO:0001583	missense	3029			X90999	CCDS32366.1, CCDS10447.2, CCDS66900.1	16p13.3	2012-10-02	2003-11-04		ENSG00000063854	ENSG00000063854	3.1.2.6		4805	protein-coding gene	gene with protein product		138760	"""hydroxyacyl glutathione hydrolase"""			3025077, 7327557	Standard	NM_001286249		Approved	GLO2, GLXII, HAGH1	uc002cna.3	Q16775	OTTHUMG00000128662	ENST00000397356.3:c.190C>G	16.37:g.1872925G>C	ENSP00000380514:p.Leu64Val		1812926	A8K290|B4DP33|B4DRA7|E7EN93	Missense_Mutation	SNP	ENST00000397356.3	37	CCDS10447.2	SNP	35	Baylor	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868183	0.91587	.	.	ENSG00000063854	ENST00000455446;ENST00000397356;ENST00000397353	D;D;D	0.86627	-2.15;-2.15;-2.15	5.45	5.45	0.79879	Beta-lactamase-like (2);	0.000000	0.85682	D	0.000000	D	0.92319	0.7563	M	0.62723	1.935	0.80722	D	1	D;D;P;P	0.60160	0.976;0.987;0.496;0.939	D;P;P;P	0.67231	0.95;0.821;0.608;0.882	D	0.92392	0.5922	10	0.62326	D	0.03	-7.3079	18.6291	0.91352	0.0:0.0:1.0:0.0	.	64;64;16;64	E7EN93;B4DT01;Q16775-2;Q16775	.;.;.;GLO2_HUMAN	V	64;64;16	ENSP00000406552:L64V;ENSP00000380514:L64V;ENSP00000380511:L16V	ENSP00000380511:L16V	L	-	1	2	HAGH	1812926	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.080000	0.76837	2.732000	0.93576	0.650000	0.86243	CTG		0.592	HAGH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250548.2	NM_005326		Missense_Mutation
HIBADH	11112	hgsc.bcm.edu	37	7	27689215	27689215	+	Silent	SNP	T	T	C			TCGA-13-0730-01	TCGA-13-0730-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr7:27689215T>C	ENST00000265395.2	-	2	335	c.129A>G	c.(127-129)ggA>ggG	p.G43G		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	43					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	3-hydroxyisobutyrate dehydrogenase activity (GO:0008442)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)	p.G43G(1)		endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)			GTCCAATGAATCCAACTGGAG	0.363																																																1	Substitution - coding silent(1)	ovary(1)	7											112.0	111.0	111.0					7																	27689215		2203	4300	6503	27655740	SO:0001819	synonymous_variant	11112			AF529362	CCDS5414.1	7p15	2009-06-12			ENSG00000106049	ENSG00000106049	1.1.1.31		4907	protein-coding gene	gene with protein product		608475					Standard	NM_152740		Approved	NS5ATP1	uc003szf.3	P31937	OTTHUMG00000097035	ENST00000265395.2:c.129A>G	7.37:g.27689215T>C			27655740	Q546Z2|Q9UDN3	Silent	SNP	ENST00000265395.2	37	CCDS5414.1	SNP	50	Baylor																																																																																				0.363	HIBADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214132.1	NM_152740		Silent
KLHL5	51088	hgsc.bcm.edu	37	4	39114765	39114765	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0730-01	TCGA-13-0730-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr4:39114765C>T	ENST00000504108.1	+	9	2235	c.1952C>T	c.(1951-1953)aCg>aTg	p.T651M	KLHL5_ENST00000381930.3_Missense_Mutation_p.T651M|KLHL5_ENST00000508137.2_Missense_Mutation_p.T464M|KLHL5_ENST00000261425.3_Missense_Mutation_p.T605M|RP11-360F5.1_ENST00000509449.1_RNA|KLHL5_ENST00000261426.5_Missense_Mutation_p.T590M|KLHL5_ENST00000359687.2_Missense_Mutation_p.T651M	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	651						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.T651M(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						GTAGGAGTGACGACCTGGAAT	0.478																																																1	Substitution - Missense(1)	ovary(1)	4											138.0	121.0	127.0					4																	39114765		2203	4300	6503	38791160	SO:0001583	missense	51088			AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"""Kelch-like"", ""BTB/POZ domain containing"""	6356	protein-coding gene	gene with protein product		608064	"""kelch (Drosophila)-like 5"", ""kelch-like 5 (Drosophila)"""			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.1952C>T	4.37:g.39114765C>T	ENSP00000423897:p.Thr651Met		38791160	A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP	ENST00000504108.1	37	CCDS33974.1	SNP	19	Baylor	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407245	0.83230	.	.	ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000508137;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426;ENST00000546147	T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18	5.67	5.67	0.87782	.	0.044704	0.85682	D	0.000000	D	0.88058	0.6335	M	0.76002	2.32	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.67900	0.954;0.953;0.931	D	0.88739	0.3242	10	0.87932	D	0	.	19.7657	0.96340	0.0:1.0:0.0:0.0	.	590;651;651	F8WAE7;Q96PQ7;Q96PQ7-2	.;KLHL5_HUMAN;.	M	685;605;464;651;651;651;590;245	ENSP00000261425:T605M;ENSP00000423080:T464M;ENSP00000423897:T651M;ENSP00000352716:T651M;ENSP00000371355:T651M;ENSP00000261426:T590M	ENSP00000261425:T605M	T	+	2	0	KLHL5	38791160	1.000000	0.71417	0.086000	0.20670	0.756000	0.42949	7.818000	0.86416	2.649000	0.89929	0.655000	0.94253	ACG		0.478	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1			Missense_Mutation
MDN1	23195	hgsc.bcm.edu	37	6	90484419	90484419	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0730-01	TCGA-13-0730-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr6:90484419T>C	ENST00000369393.3	-	13	1970	c.1855A>G	c.(1855-1857)Att>Gtt	p.I619V	MDN1_ENST00000428876.1_Missense_Mutation_p.I619V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	619					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.I619V(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTGATCACAATTTCTGGTTTA	0.408																																																1	Substitution - Missense(1)	ovary(1)	6											137.0	127.0	130.0					6																	90484419		2203	4300	6503	90541140	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.1855A>G	6.37:g.90484419T>C	ENSP00000358400:p.Ile619Val		90541140	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	SNP	52	Baylor	.	.	.	.	.	.	.	.	.	.	T	11.66	1.705539	0.30232	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.16457	4.04;4.04;2.34	5.32	5.32	0.75619	ATPase, AAA+ type, core (1);	0.062472	0.64402	D	0.000006	T	0.07954	0.0199	L	0.53249	1.67	0.41345	D	0.987327	B;B	0.28713	0.22;0.029	B;B	0.29942	0.109;0.013	T	0.09952	-1.0651	10	0.17832	T	0.49	.	11.617	0.51096	0.0:0.0:0.1486:0.8514	.	546;619	Q5T795;Q9NU22	.;MDN1_HUMAN	V	619;619;546	ENSP00000358400:I619V;ENSP00000413970:I619V;ENSP00000409664:I546V	ENSP00000358400:I619V	I	-	1	0	MDN1	90541140	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.353000	0.52247	2.018000	0.59344	0.533000	0.62120	ATT		0.408	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			Missense_Mutation
METTL16	79066	hgsc.bcm.edu	37	17	2376928	2376928	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0730-01	TCGA-13-0730-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr17:2376928A>T	ENST00000263092.6	-	4	486	c.359T>A	c.(358-360)cTt>cAt	p.L120H	METTL16_ENST00000538844.1_Intron|METTL16_ENST00000571669.2_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	120							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.L120H(1)		kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						GGTTGCTCCAAGTAAGGGGTA	0.383																																																1	Substitution - Missense(1)	ovary(1)	17											87.0	81.0	83.0					17																	2376928		1895	4114	6009	2323678	SO:0001583	missense	79066			AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"""methyltransferase 10 domain containing"""	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.359T>A	17.37:g.2376928A>T	ENSP00000263092:p.Leu120His		2323678	D3DTI8|Q86TE5|Q96T16|Q9BVG7	Missense_Mutation	SNP	ENST00000263092.6	37	CCDS42232.1	SNP	3	Baylor	.	.	.	.	.	.	.	.	.	.	A	24.3	4.515375	0.85389	.	.	ENSG00000127804	ENST00000263092;ENST00000399834	T	0.17854	2.25	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.50650	0.1628	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.61540	-0.7042	10	0.87932	D	0	-3.4358	14.051	0.64736	1.0:0.0:0.0:0.0	.	120;120	Q86W50-2;Q86W50	.;MET16_HUMAN	H	120	ENSP00000263092:L120H	ENSP00000263092:L120H	L	-	2	0	METTL16	2323678	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	8.948000	0.93006	2.210000	0.71456	0.482000	0.46254	CTT		0.383	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2	NM_024086		Missense_Mutation
KMT2B	9757	hgsc.bcm.edu	37	19	36211742	36211742	+	Missense_Mutation	SNP	C	C	A	rs80216638	byFrequency	TCGA-13-0730-01	TCGA-13-0730-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr19:36211742C>A	ENST00000222270.7	+	3	1493	c.1493C>A	c.(1492-1494)aCc>aAc	p.T498N	KMT2B_ENST00000341701.1_Missense_Mutation_p.T498N|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.T498N	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	498	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.T498N(1)									CCCACTCCAACCCCCAGCACC	0.667													C|||	201	0.0401358	0.0726	0.0202	5008	,	,		8855	0.005		0.0457	False		,,,				2504	0.0409															1	Substitution - Missense(1)	central_nervous_system(1)	19						C	ASN/THR	143,3727		3,137,1795	8.0	11.0	10.0		1493	-1.8	0.4	19	dbSNP_131	10	250,7964		8,234,3865	yes	missense	MLL4	NM_014727.1	65	11,371,5660	AA,AC,CC		3.0436,3.6951,3.2522	benign	498/2716	36211742	393,11691	1935	4107	6042	40903582	SO:0001583	missense	9757			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.1493C>A	19.37:g.36211742C>A	ENSP00000222270:p.Thr498Asn		40903582	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1	SNP	18	Baylor	84	0.038461538461538464	34	0.06910569105691057	10	0.027624309392265192	4	0.006993006993006993	36	0.047493403693931395	C	5.237	0.229293	0.09916	0.036951	0.030436	ENSG00000105663	ENST00000222270;ENST00000420124;ENST00000341701	D;D;T	0.82984	-1.67;-1.67;0.95	4.12	-1.77	0.07982	.	0.982517	0.08277	N	0.970445	T	0.10423	0.0255	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11036	-1.0604	10	0.16896	T	0.51	.	3.7443	0.08542	0.3907:0.3727:0.0:0.2367	.	498	Q9UMN6	MLL4_HUMAN	N	498	ENSP00000222270:T498N;ENSP00000398837:T498N;ENSP00000345761:T498N	ENSP00000222270:T498N	T	+	2	0	AD000671.1	40903582	0.002000	0.14202	0.400000	0.26346	0.965000	0.64279	-0.214000	0.09292	-0.093000	0.12396	0.455000	0.32223	ACC		0.667	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		Missense_Mutation
MYO3A	53904	hgsc.bcm.edu	37	10	26385320	26385320	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0730-01	TCGA-13-0730-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr10:26385320A>C	ENST00000265944.5	+	16	1739	c.1573A>C	c.(1573-1575)Aat>Cat	p.N525H	MYO3A_ENST00000543632.1_Missense_Mutation_p.N525H	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	525	Myosin motor.		N -> K (in an ovarian mucinous carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.N525H(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGGAGAAAAAAATTTTCATAT	0.318																																																1	Substitution - Missense(1)	ovary(1)	10											30.0	33.0	32.0					10																	26385320		2194	4285	6479	26425326	SO:0001583	missense	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1573A>C	10.37:g.26385320A>C	ENSP00000265944:p.Asn525His		26425326	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	SNP	1	Baylor	.	.	.	.	.	.	.	.	.	.	A	22.0	4.228298	0.79576	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	T;D	0.89746	-1.09;-2.56	5.48	5.48	0.80851	Myosin head, motor domain (2);	0.042713	0.85682	D	0.000000	D	0.96605	0.8892	H	0.97659	4.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	D	0.98093	1.0410	10	0.87932	D	0	.	15.8746	0.79151	1.0:0.0:0.0:0.0	.	525;525;525	F5H0U9;Q0VD65;Q8NEV4	.;.;MYO3A_HUMAN	H	525	ENSP00000265944:N525H;ENSP00000445909:N525H	ENSP00000265944:N525H	N	+	1	0	MYO3A	26425326	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.910000	0.92685	2.205000	0.71048	0.533000	0.62120	AAT		0.318	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		Missense_Mutation
NALCN	259232	hgsc.bcm.edu	37	13	101797213	101797213	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0730-01	TCGA-13-0730-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr13:101797213T>C	ENST00000251127.6	-	16	1955	c.1874A>G	c.(1873-1875)gAa>gGa	p.E625G		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	625					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.E625G(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGGGAGCTTTTCTTTGGTGTC	0.343																																																1	Substitution - Missense(1)	ovary(1)	13											166.0	181.0	176.0					13																	101797213		2203	4300	6503	100595214	SO:0001583	missense	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1874A>G	13.37:g.101797213T>C	ENSP00000251127:p.Glu625Gly		100595214	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	SNP	62	Baylor	.	.	.	.	.	.	.	.	.	.	T	29.6	5.019699	0.93462	.	.	ENSG00000102452	ENST00000251127	D	0.97959	-4.63	5.75	5.75	0.90469	.	0.109014	0.64402	D	0.000003	D	0.97096	0.9051	L	0.39898	1.24	0.80722	D	1	D	0.55800	0.973	P	0.53518	0.728	D	0.97720	1.0196	10	0.66056	D	0.02	.	16.0519	0.80769	0.0:0.0:0.0:1.0	.	625	Q8IZF0	NALCN_HUMAN	G	625	ENSP00000251127:E625G	ENSP00000251127:E625G	E	-	2	0	NALCN	100595214	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.606000	0.82863	2.196000	0.70406	0.533000	0.62120	GAA		0.343	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		Missense_Mutation
NDRG1	10397	hgsc.bcm.edu	37	8	134269065	134269065	+	Silent	SNP	G	G	A	rs183043224		TCGA-13-0730-01	TCGA-13-0730-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr8:134269065G>A	ENST00000414097.2	-	8	1359	c.492C>T	c.(490-492)aaC>aaT	p.N164N	NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000323851.7_Silent_p.N164N|NDRG1_ENST00000354944.5_Silent_p.N94N|NDRG1_ENST00000537882.1_Silent_p.N83N|NDRG1_ENST00000522476.1_Silent_p.N98N	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	164					cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|mast cell activation (GO:0045576)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of spindle checkpoint (GO:0090232)|response to metal ion (GO:0010038)	cell-cell adherens junction (GO:0005913)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	cadherin binding (GO:0045296)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|Rab GTPase binding (GO:0017137)	p.N164N(1)	NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			AAGGGTTCACGTTGATAAGGA	0.562			T	ERG	prostate								G|||	1	0.000199681	0.0	0.0014	5008	,	,		19599	0.0		0.0	False		,,,				2504	0.0						Dom	yes		8	8q24.3	10397	N-myc downstream regulated 1		E	1	Substitution - coding silent(1)	ovary(1)	8											95.0	68.0	78.0					8																	134269065		2203	4300	6503	134338247	SO:0001819	synonymous_variant	10397			X92845	CCDS34945.1, CCDS59112.1, CCDS59113.1	8q24	2014-09-17	2008-09-12		ENSG00000104419	ENSG00000104419			7679	protein-coding gene	gene with protein product		605262		CAP43		9251681, 8939898, 18455888	Standard	NM_006096		Approved	DRG1, RTP, TDD5, NDR1	uc003yue.2	Q92597	OTTHUMG00000164441	ENST00000414097.2:c.492C>T	8.37:g.134269065G>A			134338247	B3KR80|B7Z446|O15207|Q6IBG2|Q9NYR6|Q9UK29	Silent	SNP	ENST00000414097.2	37	CCDS34945.1	SNP	40	Baylor																																																																																				0.562	NDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378805.1			Silent
NIPBL	25836	hgsc.bcm.edu	37	5	36976054	36976054	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0730-01	TCGA-13-0730-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr5:36976054A>G	ENST00000282516.8	+	9	1544	c.1045A>G	c.(1045-1047)Agt>Ggt	p.S349G	NIPBL_ENST00000448238.2_Missense_Mutation_p.S349G|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	349					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.S349C(1)|p.S349G(1)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGATATAATTAGTTCTCCATC	0.378																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	5											103.0	109.0	107.0					5																	36976054		2203	4300	6503	37011811	SO:0001583	missense	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1045A>G	5.37:g.36976054A>G	ENSP00000282516:p.Ser349Gly		37011811	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	SNP	15	Baylor	.	.	.	.	.	.	.	.	.	.	A	17.39	3.378500	0.61735	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.95980	-3.85;-3.87	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.94450	0.8214	N	0.14661	0.345	0.50313	D	0.999865	P;D	0.56035	0.956;0.974	P;D	0.67725	0.899;0.953	D	0.93824	0.7121	10	0.28530	T	0.3	.	15.1301	0.72517	1.0:0.0:0.0:0.0	.	349;349	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	G	349	ENSP00000282516:S349G;ENSP00000406266:S349G	ENSP00000282516:S349G	S	+	1	0	NIPBL	37011811	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.959000	0.93110	1.980000	0.57719	0.383000	0.25322	AGT		0.378	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		Missense_Mutation
NRXN1	9378	hgsc.bcm.edu	37	2	50850722	50850722	+	Silent	SNP	T	T	A	rs373654735		TCGA-13-0730-01	TCGA-13-0730-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr2:50850722T>A	ENST00000406316.2	-	6	2340	c.864A>T	c.(862-864)ggA>ggT	p.G288G	NRXN1_ENST00000401669.2_Silent_p.G288G|NRXN1_ENST00000405472.3_Silent_p.G288G|NRXN1_ENST00000404971.1_Silent_p.G321G|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Silent_p.G288G|NRXN1_ENST00000402717.3_Silent_p.G288G	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	288	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.G288G(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGTATTCAGATCCTTTGAACG	0.373																																																1	Substitution - coding silent(1)	ovary(1)	2											102.0	96.0	98.0					2																	50850722		1877	4098	5975	50704226	SO:0001819	synonymous_variant	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.864A>T	2.37:g.50850722T>A			50704226	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	CCDS54360.1	SNP	50	Baylor																																																																																				0.373	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			Silent
PAN3	255967	hgsc.bcm.edu	37	13	28851443	28851443	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0730-01	TCGA-13-0730-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr13:28851443C>G	ENST00000380958.3	+	15	2271	c.2119C>G	c.(2119-2121)Cga>Gga	p.R707G	PAN3_ENST00000399613.1_Missense_Mutation_p.R507G|PAN3_ENST00000282391.5_Missense_Mutation_p.R395G	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit									p.R507G(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AGGAATTCAGCGAGAGAATTT	0.343																																																1	Substitution - Missense(1)	ovary(1)	13											111.0	114.0	113.0					13																	28851443		2203	4300	6503	27749443	SO:0001583	missense	255967			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.2119C>G	13.37:g.28851443C>G	ENSP00000370345:p.Arg707Gly		27749443		Missense_Mutation	SNP	ENST00000380958.3	37	CCDS9329.2	SNP	27	Baylor	.	.	.	.	.	.	.	.	.	.	C	17.89	3.498856	0.64298	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.14893	2.47;2.47;2.47	5.81	4.03	0.46877	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.36054	0.0953	L	0.58354	1.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.998	T	0.02661	-1.1127	10	0.26408	T	0.33	-8.9786	14.4333	0.67266	0.4447:0.5552:0.0:0.0	.	707;395;653	Q58A45;Q58A45-2;Q58A45-3	PAN3_HUMAN;.;.	G	707;507;395	ENSP00000370345:R707G;ENSP00000382522:R507G;ENSP00000282391:R395G	ENSP00000282391:R395G	R	+	1	2	PAN3	27749443	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.264000	0.51553	0.749000	0.32854	0.655000	0.94253	CGA		0.343	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		Missense_Mutation
PLXNA4	91584	hgsc.bcm.edu	37	7	131853209	131853209	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0730-01	TCGA-13-0730-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr7:131853209C>G	ENST00000359827.3	-	22	5102	c.4140G>C	c.(4138-4140)atG>atC	p.M1380I	PLXNA4_ENST00000321063.4_Missense_Mutation_p.M1380I			Q9HCM2	PLXA4_HUMAN	plexin A4	1380					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.M1380I(1)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CACGGTCGCGCATGGAGAAGC	0.582																																																1	Substitution - Missense(1)	ovary(1)	7											88.0	88.0	88.0					7																	131853209		2203	4300	6503	131503749	SO:0001583	missense	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4140G>C	7.37:g.131853209C>G	ENSP00000352882:p.Met1380Ile		131503749	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	SNP	25	Baylor	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566076	0.86439	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.10668	2.85;2.85	5.49	5.49	0.81192	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.24699	0.0599	L	0.42245	1.32	0.80722	D	1	D	0.63880	0.993	D	0.64877	0.93	T	0.01030	-1.1475	10	0.21540	T	0.41	.	19.3569	0.94418	0.0:1.0:0.0:0.0	.	1380	Q9HCM2	PLXA4_HUMAN	I	1380	ENSP00000323194:M1380I;ENSP00000352882:M1380I	ENSP00000323194:M1380I	M	-	3	0	PLXNA4	131503749	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.818000	0.86416	2.582000	0.87167	0.462000	0.41574	ATG		0.582	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		Missense_Mutation
PRF1	5551	hgsc.bcm.edu	37	10	72358722	72358722	+	Missense_Mutation	SNP	T	T	C	rs28933375	byFrequency	TCGA-13-0730-01	TCGA-13-0730-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr10:72358722T>C	ENST00000441259.1	-	3	915	c.755A>G	c.(754-756)aAc>aGc	p.N252S	PRF1_ENST00000373209.2_Missense_Mutation_p.N252S	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	252	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.		N -> S (in FHL2; dbSNP:rs28933375). {ECO:0000269|PubMed:10583959}.		apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CTCCACCTCGTTGTCCGTGAG	0.632			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				T|||	38	0.00758786	0.0106	0.0058	5008	,	,		18685	0.0		0.0109	False		,,,				2504	0.0092					yes	Rec			10	10q22	5551	perforin 1 (pore forming protein)		L	0			10	GRCh37	CM992952	PRF1	M	rs28933375	T	SER/ASN,SER/ASN	40,4366	43.8+/-77.6	0,40,2163	123.0	88.0	100.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	755,755	4.7	0.0	10	dbSNP_125	100	70,8530	41.7+/-99.0	0,70,4230	yes	missense,missense	PRF1	NM_001083116.1,NM_005041.4	46,46	0,110,6393	CC,CT,TT		0.814,0.9079,0.8458	benign,benign	252/556,252/556	72358722	110,12896	2203	4300	6503	72028728	SO:0001583	missense	5551	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.755A>G	10.37:g.72358722T>C	ENSP00000398568:p.Asn252Ser		72028728	B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	ENST00000441259.1	37	CCDS7305.1	SNP	60	Baylor	13	0.005952380952380952	5	0.01016260162601626	2	0.0055248618784530384	0	0.0	6	0.0079155672823219	T	4.521	0.096594	0.08681	0.009079	0.00814	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.82803	-1.65;-1.65	5.83	4.69	0.59074	Membrane attack complex component/perforin (MACPF) domain (3);	0.677027	0.15448	N	0.261829	T	0.50326	0.1609	N	0.01168	-0.975	0.09310	A	8.34466e-13	B	0.02656	0.0	B	0.06405	0.002	T	0.57207	-0.7851	9	0.21540	T	0.41	-13.5412	10.0841	0.42408	0.0:0.0793:0.0:0.9206	rs28933375	252	P14222	PERF_HUMAN	S	252	ENSP00000362305:N252S;ENSP00000398568:N252S	ENSP00000316746:N252S	N	-	2	0	PRF1	72028728	0.000000	0.05858	0.003000	0.11579	0.010000	0.07245	0.743000	0.26231	1.021000	0.39600	0.533000	0.62120	AAC		0.632	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		Missense_Mutation
PRMT1	3276	hgsc.bcm.edu	37	19	50187291	50187291	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0730-01	TCGA-13-0730-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr19:50187291C>T	ENST00000391851.4	+	5	595	c.466C>T	c.(466-468)Ctc>Ttc	p.L156F	PRMT1_ENST00000532489.1_Missense_Mutation_p.L128F|PRMT1_ENST00000454376.2_Missense_Mutation_p.L174F|MIR5088_ENST00000581740.1_RNA	NM_198318.4	NP_938074.2	Q99873	ANM1_HUMAN	protein arginine methyltransferase 1	164	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.			DIIISEWMGYCLFYESMLNTVLYARDKWL -> ASSSASGW ATASSTSPCSTPCSMPGTSV (in Ref. 2; BAA11029). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of megakaryocyte differentiation (GO:0045653)|neuron projection development (GO:0031175)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|protein methylation (GO:0006479)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|identical protein binding (GO:0042802)|methyltransferase activity (GO:0008168)|N-methyltransferase activity (GO:0008170)|poly(A) RNA binding (GO:0044822)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)	p.L150F(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		CGAGTCCATGCTCAACACCGT	0.607																																																1	Substitution - Missense(1)	ovary(1)	19											194.0	133.0	154.0					19																	50187291		2203	4300	6503	54879103	SO:0001583	missense	3276			D66904	CCDS42592.1, CCDS46145.1, CCDS74425.1	19q13	2014-06-12	2006-02-16	2006-02-16	ENSG00000126457	ENSG00000126457	2.1.1.125	"""Protein arginine methyltransferases"""	5187	protein-coding gene	gene with protein product		602950	"""HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2"", ""HMT1 hnRNP methyltransferase-like 2 (S. cerevisiae)"""	HRMT1L2		9545638	Standard	NM_001207042		Approved	HCP1, ANM1	uc010enf.2	Q99873	OTTHUMG00000167568	ENST00000391851.4:c.466C>T	19.37:g.50187291C>T	ENSP00000375724:p.Leu156Phe		54879103	B4E3C3|G5E9B6|Q15529|Q2VP93|Q6LEU5|Q8WUW5|Q99872|Q99874|Q9NZ04|Q9NZ05|Q9NZ06	Missense_Mutation	SNP	ENST00000391851.4	37	CCDS42592.1	SNP	28	Baylor	.	.	.	.	.	.	.	.	.	.	C	21.9	4.223167	0.79464	.	.	ENSG00000126457	ENST00000529284;ENST00000532489;ENST00000527382;ENST00000534465;ENST00000391851;ENST00000449059;ENST00000454376;ENST00000526224	T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7	4.15	4.15	0.48705	.	0.000000	0.64402	D	0.000001	T	0.55305	0.1912	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.98;0.966;0.999	T	0.64824	-0.6316	10	0.87932	D	0	-0.1749	13.9608	0.64177	0.0:1.0:0.0:0.0	.	164;128;156;150	Q99873;E9PKG1;G5E9B6;Q99873-2	ANM1_HUMAN;.;.;.	F	128;128;128;128;156;150;174;128	ENSP00000432349:L128F;ENSP00000433556:L128F;ENSP00000432538:L128F;ENSP00000431957:L128F;ENSP00000375724:L156F;ENSP00000406162:L174F;ENSP00000432788:L128F	ENSP00000375724:L156F	L	+	1	0	PRMT1	54879103	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	4.542000	0.60677	2.116000	0.64780	0.591000	0.81541	CTC		0.607	PRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395065.1	NM_001536		Missense_Mutation
PSD3	23362	hgsc.bcm.edu	37	8	18729615	18729615	+	Silent	SNP	G	G	A			TCGA-13-0730-01	TCGA-13-0730-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr8:18729615G>A	ENST00000327040.8	-	3	861	c.759C>T	c.(757-759)ctC>ctT	p.L253L	PSD3_ENST00000523619.1_Silent_p.L188L|PSD3_ENST00000440756.2_Silent_p.L253L	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	253					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.L253L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CTGAGCTCCCGAGGGAGGCCA	0.537																																																1	Substitution - coding silent(1)	ovary(1)	8											41.0	42.0	42.0					8																	18729615		1937	4146	6083	18773895	SO:0001819	synonymous_variant	23362			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.759C>T	8.37:g.18729615G>A			18773895	A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Silent	SNP	ENST00000327040.8	37	CCDS43720.1	SNP	37	Baylor																																																																																				0.537	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		Silent
PUM1	9698	hgsc.bcm.edu	37	1	31468021	31468021	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0730-01	TCGA-13-0730-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr1:31468021T>C	ENST00000257075.5	-	6	860	c.767A>G	c.(766-768)aAg>aGg	p.K256R	PUM1_ENST00000373741.4_Missense_Mutation_p.K292R|PUM1_ENST00000373747.3_Missense_Mutation_p.K256R|PUM1_ENST00000440538.2_Missense_Mutation_p.K256R|PUM1_ENST00000424085.2_Intron|PUM1_ENST00000426105.2_Missense_Mutation_p.K256R|PUM1_ENST00000373742.2_Missense_Mutation_p.K196R|PUM1_ENST00000423018.2_Missense_Mutation_p.K160R	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	256					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)	p.K256R(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		ACCCTTGTTCTTCTTTTCACC	0.423																																																1	Substitution - Missense(1)	ovary(1)	1											412.0	382.0	392.0					1																	31468021		2203	4300	6503	31240608	SO:0001583	missense	9698			AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.767A>G	1.37:g.31468021T>C	ENSP00000257075:p.Lys256Arg		31240608	A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	CCDS338.1	SNP	56	Baylor	.	.	.	.	.	.	.	.	.	.	T	25.8	4.671501	0.88348	.	.	ENSG00000134644	ENST00000257075;ENST00000373747;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000543952	T;T;T;T;T;T;T	0.23950	1.88;2.16;2.13;2.12;2.12;2.24;2.02	5.56	5.56	0.83823	.	0.086699	0.85682	D	0.000000	T	0.49949	0.1587	M	0.66939	2.045	0.54753	D	0.999986	P;P;D;P;D;P;D	0.76494	0.872;0.608;0.958;0.728;0.999;0.889;0.999	P;B;P;B;D;B;D	0.78314	0.485;0.074;0.577;0.156;0.991;0.438;0.991	T	0.50808	-0.8784	10	0.59425	D	0.04	-9.5254	15.7079	0.77598	0.0:0.0:0.0:1.0	.	196;160;292;256;256;256;256	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4	.;.;.;.;PUM1_HUMAN;.;.	R	256;256;256;256;292;160;196;256	ENSP00000257075:K256R;ENSP00000362852:K256R;ENSP00000391723:K256R;ENSP00000401777:K256R;ENSP00000362846:K292R;ENSP00000399440:K160R;ENSP00000362847:K196R	ENSP00000257075:K256R	K	-	2	0	PUM1	31240608	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.898000	0.63238	2.108000	0.64289	0.459000	0.35465	AAG		0.423	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			Missense_Mutation
RET	5979	hgsc.bcm.edu	37	10	43622100	43622100	+	Silent	SNP	G	G	A			TCGA-13-0730-01	TCGA-13-0730-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr10:43622100G>A	ENST00000355710.3	+	19	3349	c.3117G>A	c.(3115-3117)ccG>ccA	p.P1039P	RET_ENST00000340058.5_Silent_p.P1039P	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1039			P -> L (in CCHS; with colonic aganglionosis; dbSNP:rs79853121). {ECO:0000269|PubMed:9497256}.|P -> Q.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P1039P(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	AGGAGACACCGCTGGTGGACT	0.522		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"""E, O"""	1	Substitution - coding silent(1)	ovary(1)	10											133.0	128.0	130.0					10																	43622100		2203	4300	6503	42942106	SO:0001819	synonymous_variant	5979	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.3117G>A	10.37:g.43622100G>A			42942106	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	CCDS7200.1	SNP	38	Baylor																																																																																				0.522	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		Silent
ARHGAP32	9743	hgsc.bcm.edu	37	11	128842912	128842912	+	Silent	SNP	C	C	A			TCGA-13-0730-01	TCGA-13-0730-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr11:128842912C>A	ENST00000310343.9	-	21	3446	c.3447G>T	c.(3445-3447)ggG>ggT	p.G1149G	ARHGAP32_ENST00000527272.1_Silent_p.G800G|ARHGAP32_ENST00000392657.3_Silent_p.G800G|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1149					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.G800G(1)|p.G1149G(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GTGGCTGATTCCCTGTTAAGT	0.458																																																2	Substitution - coding silent(2)	ovary(2)	11											236.0	219.0	225.0					11																	128842912		2201	4297	6498	128348122	SO:0001819	synonymous_variant	9743			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.3447G>T	11.37:g.128842912C>A			128348122	I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Silent	SNP	ENST00000310343.9	37	CCDS44769.1	SNP	30	Baylor																																																																																				0.458	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		Silent
SDSL	113675	hgsc.bcm.edu	37	12	113874568	113874568	+	Frame_Shift_Del	DEL	C	C	-	rs573188148	byFrequency	TCGA-13-0730-01	TCGA-13-0730-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr12:113874568delC	ENST00000403593.4	+	7	946	c.684delC	c.(682-684)agcfs	p.S228fs	SDSL_ENST00000345635.4_Frame_Shift_Del_p.S228fs			Q96GA7	SDSL_HUMAN	serine dehydratase-like	228					cellular amino acid metabolic process (GO:0006520)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|pyridoxal phosphate binding (GO:0030170)	p.L229fs*30(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						TGGCCAAGAGCCTGGGTGCCA	0.652													CC|CC|C|deletion	10	0.00199681	0.0	0.0014	5008	,	,		17483	0.0		0.0089	False		,,,				2504	0.0															1	Deletion - Frameshift(1)	ovary(1)	12								12,4252		4,4,2124	59.0	47.0	51.0			0.6	0.8	12		51	78,8176		6,66,4055	no	frameshift	SDSL	NM_138432.2		10,70,6179	A1A1,A1R,RR		0.945,0.2814,0.719			113874568	90,12428	2203	4299	6502	112358951	SO:0001589	frameshift_variant	113675			AF134473	CCDS9170.1	12q24.21	2014-06-24				ENSG00000139410			30404	protein-coding gene	gene with protein product						16580895	Standard	NM_138432		Approved	SDS-RS1, cSDH	uc001tvi.3	Q96GA7		ENST00000403593.4:c.684delC	12.37:g.113874568delC	ENSP00000385790:p.Ser228fs		112358951		Frame_Shift_Del	DEL	ENST00000403593.4	37	CCDS9170.1	DEL	26	Baylor																																																																																				0.652	SDSL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404782.1	NM_138432		Frame_Shift_Del
SLC35A5	55032	hgsc.bcm.edu	37	3	112299826	112299826	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0730-01	TCGA-13-0730-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr3:112299826A>G	ENST00000492406.1	+	6	1145	c.862A>G	c.(862-864)Agt>Ggt	p.S288G	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	288					nucleotide-sugar transport (GO:0015780)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)|sugar:proton symporter activity (GO:0005351)	p.S288G(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						CCTTCAGAGGAGTAACCGTGA	0.438																																																1	Substitution - Missense(1)	ovary(1)	3											85.0	86.0	85.0					3																	112299826		2203	4300	6503	113782516	SO:0001583	missense	55032			AK000737	CCDS2967.1	3q13.13	2013-05-22			ENSG00000138459	ENSG00000138459		"""Solute carriers"""	20792	protein-coding gene	gene with protein product							Standard	NM_017945		Approved	FLJ20730	uc003dze.4	Q9BS91	OTTHUMG00000159263	ENST00000492406.1:c.862A>G	3.37:g.112299826A>G	ENSP00000417654:p.Ser288Gly		113782516	D3DN66|Q69YY6|Q6ZMD6|Q9NWM9	Missense_Mutation	SNP	ENST00000492406.1	37	CCDS2967.1	SNP	11	Baylor	.	.	.	.	.	.	.	.	.	.	A	11.05	1.525813	0.27299	.	.	ENSG00000138459	ENST00000492406	T	0.46063	0.88	5.61	3.24	0.37175	.	0.396379	0.34110	N	0.004241	T	0.33731	0.0873	L	0.53249	1.67	0.26128	N	0.980459	B	0.06786	0.001	B	0.01281	0.0	T	0.17715	-1.0360	9	.	.	.	-3.1841	7.8237	0.29303	0.7138:0.0:0.2862:0.0	.	288	Q9BS91	S35A5_HUMAN	G	288	ENSP00000417654:S288G	.	S	+	1	0	SLC35A5	113782516	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.718000	0.54919	1.063000	0.40649	0.438000	0.28831	AGT		0.438	SLC35A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354184.1	NM_017945		Missense_Mutation
SLC5A10	125206	hgsc.bcm.edu	37	17	18872373	18872374	+	In_Frame_Ins	INS	-	-	TAC			TCGA-13-0730-01	TCGA-13-0730-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr17:18872373_18872374insTAC	ENST00000395645.3	+	6	480_481	c.462_463insTAC	c.(463-465)tac>TACtac	p.155_155Y>YY	SLC5A10_ENST00000395643.2_In_Frame_Ins_p.155_155Y>YY|SLC5A10_ENST00000317977.6_In_Frame_Ins_p.99_99Y>YY|FAM83G_ENST00000388995.6_3'UTR|SLC5A10_ENST00000395647.2_In_Frame_Ins_p.155_155Y>YY|SLC5A10_ENST00000417251.2_In_Frame_Ins_p.155_155Y>YY|SLC5A10_ENST00000395642.1_In_Frame_Ins_p.99_99Y>YY	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	155					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.L154_Y155insY(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						AGCTGGACCTGTACGCGGGGGC	0.619																																																1	Insertion - In frame(1)	ovary(1)	17																																								18813099	SO:0001652	inframe_insertion	125206				CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.463_465dupTAC	17.37:g.18872374_18872376dupTAC	ENSP00000379007:p.Tyr155dup		18813098	A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	In_Frame_Ins	INS	ENST00000395645.3	37	CCDS42275.1	INS	48	Baylor																																																																																				0.619	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		In_Frame_Ins
SLC5A5	6528	hgsc.bcm.edu	37	19	17992859	17992859	+	Silent	SNP	C	C	T			TCGA-13-0730-01	TCGA-13-0730-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr19:17992859C>T	ENST00000222248.3	+	9	1496	c.1149C>T	c.(1147-1149)ctC>ctT	p.L383L		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	383					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)	p.L383L(1)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCAGGAAACTCGTGATTATCT	0.582																																					Melanoma(65;1008 1708 7910 46650)											1	Substitution - coding silent(1)	ovary(1)	19											95.0	87.0	90.0					19																	17992859		2203	4300	6503	17853859	SO:0001819	synonymous_variant	6528				CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1149C>T	19.37:g.17992859C>T			17853859	O43702|Q2M335|Q9NYB6	Silent	SNP	ENST00000222248.3	37	CCDS12368.1	SNP	31	Baylor																																																																																				0.582	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			Silent
TFDP1	7027	hgsc.bcm.edu	37	13	114287470	114287470	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0730-01	TCGA-13-0730-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	Capture	Sanger_PCR_WGA	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr13:114287470G>A	ENST00000375370.5	+	6	556	c.344G>A	c.(343-345)gGc>gAc	p.G115D	TFDP1_ENST00000465174.1_3'UTR|TFDP1_ENST00000544902.1_Missense_Mutation_p.G20D|TFDP1_ENST00000538138.1_Missense_Mutation_p.G20D	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	115					anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.G115D(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			AATGGCAAGGGCCTACGGCAT	0.522										TSP Lung(29;0.18)																																						1	Substitution - Missense(1)	ovary(1)	13											67.0	62.0	64.0					13																	114287470		2203	4300	6503	113335471	SO:0001583	missense	7027			BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.344G>A	13.37:g.114287470G>A	ENSP00000364519:p.Gly115Asp		113335471	B4DLQ9|Q5JSB4|Q8IZL5	Missense_Mutation	SNP	ENST00000375370.5	37	CCDS9538.1	SNP	42	Baylor	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007402	0.75046	.	.	ENSG00000198176	ENST00000538138;ENST00000375370;ENST00000544902;ENST00000408980;ENST00000453989	T;T;T;T;D	0.86097	-0.14;0.64;0.06;0.46;-2.07	4.12	4.12	0.48240	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94387	0.8195	H	0.94771	3.58	0.80722	D	1	D;D;D;P;P	0.89917	1.0;1.0;1.0;0.813;0.66	D;D;D;B;B	0.97110	0.999;0.998;1.0;0.413;0.358	D	0.96242	0.9176	10	0.87932	D	0	.	16.3801	0.83458	0.0:0.0:1.0:0.0	.	20;20;115;115;115	F5H452;B4DLQ9;Q5JSB5;Q5JSB6;Q14186	.;.;.;.;TFDP1_HUMAN	D	20;115;20;115;115	ENSP00000443878:G20D;ENSP00000364519:G115D;ENSP00000438450:G20D;ENSP00000386145:G115D;ENSP00000401389:G115D	ENSP00000364519:G115D	G	+	2	0	TFDP1	113335471	1.000000	0.71417	0.955000	0.39395	0.979000	0.70002	9.252000	0.95491	1.844000	0.53588	0.491000	0.48974	GGC		0.522	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111		Missense_Mutation
TLN2	83660	hgsc.bcm.edu	37	15	63040619	63040619	+	Silent	SNP	C	C	T	rs151024322		TCGA-13-0730-01	TCGA-13-0730-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr15:63040619C>T	ENST00000561311.1	+	32	4325	c.4095C>T	c.(4093-4095)tgC>tgT	p.C1365C	TLN2_ENST00000306829.6_Silent_p.C1365C			Q9Y4G6	TLN2_HUMAN	talin 2	1365					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.C1365C(2)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGAAAGAGTGCGATAATGCCC	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		18194	0.0		0.001	False		,,,				2504	0.0															2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	15						C		2,4404	4.2+/-10.8	0,2,2201	99.0	97.0	98.0		4095	3.8	1.0	15	dbSNP_134	98	12,8588	9.8+/-36.6	0,12,4288	no	coding-synonymous	TLN2	NM_015059.2		0,14,6489	TT,TC,CC		0.1395,0.0454,0.1076		1365/2543	63040619	14,12992	2203	4300	6503	60827911	SO:0001819	synonymous_variant	83660			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.4095C>T	15.37:g.63040619C>T			60827911	A6NLB8	Silent	SNP	ENST00000561311.1	37	CCDS32261.1	SNP	27	Baylor																																																																																				0.498	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			Silent
TP53	7157	hgsc.bcm.edu	37	17	7578398	7578398	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0730-01	TCGA-13-0730-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr17:7578398G>T	ENST00000269305.4	-	5	721	c.532C>A	c.(532-534)Cac>Aac	p.H178N	TP53_ENST00000420246.2_Missense_Mutation_p.H178N|TP53_ENST00000359597.4_Missense_Mutation_p.H178N|TP53_ENST00000445888.2_Missense_Mutation_p.H178N|TP53_ENST00000455263.2_Missense_Mutation_p.H178N|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H178N	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	178	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> HPHP (in a Burkitt lymphoma). {ECO:0000269|PubMed:1303181}.|H -> L (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H178fs*69(14)|p.P177_C182delPHHERC(8)|p.H178Y(8)|p.0?(8)|p.H178D(7)|p.H178fs*3(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.H178N(3)|p.H85fs*69(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H46fs*>45(2)|p.C176fs*65(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.H46D(1)|p.H85D(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.H178del(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.R174fs*3(1)|p.E171fs*61(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)	Acetylsalicylic acid(DB00945)	CGCTCATGGTGGGGGCAGCGC	0.642		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)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	98	Deletion - Frameshift(38)|Deletion - In frame(25)|Substitution - Missense(20)|Whole gene deletion(8)|Insertion - Frameshift(4)|Complex - deletion inframe(3)	large_intestine(22)|breast(12)|upper_aerodigestive_tract(10)|ovary(9)|haematopoietic_and_lymphoid_tissue(6)|endometrium(6)|skin(6)|bone(5)|central_nervous_system(4)|lung(4)|oesophagus(4)|stomach(3)|liver(2)|pancreas(2)|thyroid(1)|vulva(1)|urinary_tract(1)	17	GRCh37	CD983489	TP53	D	rs68130327						47.0	47.0	47.0					17																	7578398		2203	4300	6503	7519123	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.532C>A	17.37:g.7578398G>T	ENSP00000269305:p.His178Asn		7519123	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Indel	Indel	ENST00000269305.4	37	CCDS11118.1	Indel	47	Baylor	.	.	.	.	.	.	.	.	.	.	G	13.12	2.143403	0.37825	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99724	-6.54;-6.54;-6.54;-6.54;-6.54;-6.54;-6.54;-6.54	5.59	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050213	0.85682	D	0.000000	D	0.99130	0.9700	N	0.20357	0.565	0.48975	D	0.999736	D;D;B;P;D;D;D	0.89917	0.989;1.0;0.069;0.877;1.0;1.0;0.999	D;D;B;D;D;D;D	0.97110	0.972;1.0;0.108;0.932;1.0;1.0;0.999	D	0.98821	1.0747	10	0.22109	T	0.4	-32.3354	14.0625	0.64808	0.0:0.0:0.8482:0.1518	.	139;178;178;85;178;178;178	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	178;178;178;178;178;178;167;85;46;85;46	ENSP00000410739:H178N;ENSP00000352610:H178N;ENSP00000269305:H178N;ENSP00000398846:H178N;ENSP00000391127:H178N;ENSP00000391478:H178N;ENSP00000425104:H46N;ENSP00000423862:H85N	ENSP00000269305:H178N	H	-	1	0	TP53	7519123	0.992000	0.36948	1.000000	0.80357	0.884000	0.51177	1.389000	0.34453	1.497000	0.48584	0.655000	0.94253	CAC		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		Indel
TRIM36	55521	hgsc.bcm.edu	37	5	114482905	114482905	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0730-01	TCGA-13-0730-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr5:114482905G>A	ENST00000282369.3	-	3	606	c.485C>T	c.(484-486)cCa>cTa	p.P162L	TRIM36_ENST00000513154.1_Missense_Mutation_p.P150L|TRIM36-IT1_ENST00000503723.1_RNA|TRIM36_ENST00000514154.1_Missense_Mutation_p.P7L|TRIM36_ENST00000515104.1_5'UTR	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	162					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P162L(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TTGAGGTGGTGGTTTACAAAG	0.418																																																1	Substitution - Missense(1)	ovary(1)	5											169.0	164.0	166.0					5																	114482905		2202	4300	6502	114510804	SO:0001583	missense	55521			AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.485C>T	5.37:g.114482905G>A	ENSP00000282369:p.Pro162Leu		114510804	A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	CCDS4115.1	SNP	47	Baylor	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090607	0.76756	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154;ENST00000508894	D;D;T;D	0.87029	-2.2;-2.2;-0.1;-2.2	5.39	4.5	0.54988	Zinc finger, RING/FYVE/PHD-type (1);	0.097397	0.64402	D	0.000001	D	0.88232	0.6381	L	0.27975	0.815	0.80722	D	1	D;D	0.62365	0.961;0.991	P;D	0.63703	0.617;0.917	D	0.88812	0.3292	10	0.51188	T	0.08	.	15.3577	0.74440	0.0:0.0:0.8592:0.1408	.	150;162	E9PFI8;Q9NQ86	.;TRI36_HUMAN	L	162;150;7;160	ENSP00000282369:P162L;ENSP00000423934:P150L;ENSP00000424259:P7L;ENSP00000424743:P160L	ENSP00000282369:P162L	P	-	2	0	TRIM36	114510804	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	9.338000	0.96553	1.229000	0.43630	-0.293000	0.09583	CCA		0.418	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		Missense_Mutation
TYW3	127253	hgsc.bcm.edu	37	1	75204423	75204423	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0730-01	TCGA-13-0730-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr1:75204423C>G	ENST00000370867.3	+	3	394	c.305C>G	c.(304-306)cCa>cGa	p.P102R	TYW3_ENST00000421739.2_Intron|TYW3_ENST00000479111.1_5'UTR|TYW3_ENST00000457880.2_Intron	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	102					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)	p.P102R(1)|p.P102L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						AAATTTGAACCATTTGTTCTT	0.363																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	1											152.0	144.0	147.0					1																	75204423		2203	4300	6503	74977011	SO:0001583	missense	127253			BX647591	CCDS666.1, CCDS53334.1	1p31.1	2008-02-05	2006-05-25	2006-05-25	ENSG00000162623	ENSG00000162623			24757	protein-coding gene	gene with protein product		611245	"""chromosome 1 open reading frame 171"""	C1orf171		17150819	Standard	NM_138467		Approved	FLJ40918	uc001dgn.3	Q6IPR3	OTTHUMG00000009641	ENST00000370867.3:c.305C>G	1.37:g.75204423C>G	ENSP00000359904:p.Pro102Arg		74977011	B4DSP9|E9PGR7|Q5HYJ0|Q8N7L1	Missense_Mutation	SNP	ENST00000370867.3	37	CCDS666.1	SNP	21	Baylor	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398726	0.62177	.	.	ENSG00000162623	ENST00000370867	T	0.51574	0.7	6.16	6.16	0.99307	tRNA wybutosine-synthesizing protein (2);	0.044668	0.85682	D	0.000000	T	0.76227	0.3958	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.81482	-0.0913	10	0.87932	D	0	-5.4888	19.6313	0.95704	0.0:1.0:0.0:0.0	.	102	Q6IPR3	TYW3_HUMAN	R	102	ENSP00000359904:P102R	ENSP00000359904:P102R	P	+	2	0	TYW3	74977011	1.000000	0.71417	1.000000	0.80357	0.118000	0.20060	6.541000	0.73865	2.937000	0.99478	0.650000	0.86243	CCA		0.363	TYW3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026573.1	NM_138467		Missense_Mutation
VEZT	55591	hgsc.bcm.edu	37	12	95681516	95681516	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0730-01	TCGA-13-0730-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr12:95681516C>G	ENST00000436874.1	+	9	1510	c.1405C>G	c.(1405-1407)Ccc>Gcc	p.P469A	RNU6-808P_ENST00000391233.1_RNA|VEZT_ENST00000261219.6_Missense_Mutation_p.P421A|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	469					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)		p.P469A(1)		endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						AGAGGCTTATCCCATCCTAGA	0.393																																																1	Substitution - Missense(1)	ovary(1)	12											60.0	53.0	55.0					12																	95681516		1862	4094	5956	94205647	SO:0001583	missense	55591			AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.1405C>G	12.37:g.95681516C>G	ENSP00000410083:p.Pro469Ala		94205647	Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	CCDS44954.1	SNP	30	Baylor	.	.	.	.	.	.	.	.	.	.	C	11.95	1.790320	0.31685	.	.	ENSG00000028203	ENST00000436874;ENST00000261219;ENST00000397792;ENST00000397796	T;T;T	0.13420	2.59;2.59;2.59	5.63	5.63	0.86233	.	0.327220	0.33772	N	0.004573	T	0.11537	0.0281	N	0.22421	0.69	0.40796	D	0.983293	B	0.12013	0.005	B	0.06405	0.002	T	0.19910	-1.0291	10	0.16896	T	0.51	-28.8702	19.6898	0.95996	0.0:1.0:0.0:0.0	.	469	Q9HBM0	VEZA_HUMAN	A	469;421;425;469	ENSP00000410083:P469A;ENSP00000261219:P421A;ENSP00000380894:P425A	ENSP00000261219:P421A	P	+	1	0	VEZT	94205647	1.000000	0.71417	0.989000	0.46669	0.345000	0.29048	7.101000	0.76997	2.669000	0.90835	0.655000	0.94253	CCC		0.393	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		Missense_Mutation
WDR1	9948	hgsc.bcm.edu	37	4	10117739	10117739	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0730-01	TCGA-13-0730-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_IV	Capture	Unknown	.	.	SOLID	TCGA-13-0730-01	TCGA-13-0730-10	g.chr4:10117739C>T	ENST00000499869.2	-	2	329	c.136G>A	c.(136-138)Gac>Aac	p.D46N	WDR1_ENST00000382452.2_Missense_Mutation_p.D46N|WDR1_ENST00000502702.1_Missense_Mutation_p.D46N|RNA5SP155_ENST00000411154.1_RNA|WDR1_ENST00000382451.2_Missense_Mutation_p.D46N			O75083	WDR1_HUMAN	WD repeat domain 1	46					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)		p.D46N(1)		endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		GTACTCACGTCGATGTTCCTT	0.592																																																1	Substitution - Missense(1)	ovary(1)	4											50.0	62.0	58.0					4																	10117739		2001	4167	6168	9726837	SO:0001583	missense	9948			AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"""WD repeat domain containing"""	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.136G>A	4.37:g.10117739C>T	ENSP00000427687:p.Asp46Asn		9726837	A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Missense_Mutation	SNP	ENST00000499869.2	37	CCDS54740.1	SNP	31	Baylor	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826709	0.71143	.	.	ENSG00000071127	ENST00000499869;ENST00000382452;ENST00000382451;ENST00000443592;ENST00000502702;ENST00000508079	T;T;T;T;T	0.60424	0.41;0.41;0.19;0.19;0.48	5.03	4.18	0.49190	WD40 repeat-like-containing domain (1);	0.170659	0.51477	D	0.000091	T	0.42585	0.1209	L	0.35854	1.095	0.25036	N	0.991236	B;B	0.28233	0.204;0.017	B;B	0.19148	0.024;0.003	T	0.19224	-1.0312	10	0.18710	T	0.47	-29.9433	11.327	0.49454	0.0:0.9108:0.0:0.0892	.	46;46	O75083-3;O75083	.;WDR1_HUMAN	N	46;46;46;45;46;50	ENSP00000427687:D46N;ENSP00000371890:D46N;ENSP00000371889:D46N;ENSP00000426725:D46N;ENSP00000425481:D50N	ENSP00000371889:D46N	D	-	1	0	WDR1	9726837	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	5.375000	0.66173	1.115000	0.41800	0.561000	0.74099	GAC		0.592	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1			Missense_Mutation
