#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	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_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_NTotCov	i_NVarCov	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_TranscriptID	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	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_dbSNPPopFreq	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
AARS	16	hgsc.bcm.edu;bcgsc.ca	37	16	70292100	70292100	+	Silent	SNP	G	G	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr16:70292100G>A	ENST00000261772.8	-	15	2156	c.2013C>T	c.(2011-2013)tgC>tgT	p.C671C	AARS_ENST00000564359.1_Intron	NM_001605.2	NP_001596.2			alanyl-tRNA synthetase											breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		CTGCCAGGGGGCAATCCTGGG	0.597																																					p.C671C		.											.	AARS	91	0			c.C2013T						.						32.0	27.0	28.0					16																	70292100		2198	4300	6498	SO:0001819	synonymous_variant	16	exon15			CAGGGGGCAATCC	D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	20	protein-coding gene	gene with protein product	"""alanine tRNA ligase 1, cytoplasmic"""	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.2013C>T	16.37:g.70292100G>A		117.0	0.0		70.0	4.0	NM_001605		Silent	SNP	ENST00000261772.8	37	CCDS32474.1																																																																																			.		0.597	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435021.2	NM_001605	
ABCB1	5243	hgsc.bcm.edu;bcgsc.ca	37	7	87214929	87214929	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr7:87214929C>A	ENST00000265724.3	-	5	602	c.185G>T	c.(184-186)gGg>gTg	p.G62V	ABCB1_ENST00000543898.1_Missense_Mutation_p.G62V	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	62	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)			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)	AAGTCCAGCCCCATGGATGAT	0.393																																					p.G62V		.											.	ABCB1	582	0			c.G185T						.						93.0	94.0	94.0					7																	87214929		2203	4300	6503	SO:0001583	missense	5243	exon5			CCAGCCCCATGGA	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.185G>T	7.37:g.87214929C>A	ENSP00000265724:p.Gly62Val	106.0	0.0		116.0	6.0	NM_000927	A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467954	0.26335	.	.	ENSG00000085563	ENST00000265724;ENST00000543898	T;T	0.79033	-1.23;-1.23	5.72	5.72	0.89469	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.92283	0.7552	H	0.97440	4.005	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.949;1.0	D	0.94357	0.7584	10	0.72032	D	0.01	-22.2302	15.3886	0.74723	0.0:1.0:0.0:0.0	.	62;62	B5AK60;P08183	.;MDR1_HUMAN	V	62	ENSP00000265724:G62V;ENSP00000444095:G62V	ENSP00000265724:G62V	G	-	2	0	ABCB1	87052865	1.000000	0.71417	0.928000	0.36995	0.477000	0.33069	3.949000	0.56668	2.700000	0.92200	0.563000	0.77884	GGG	.		0.393	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927	
ACHE	43	hgsc.bcm.edu;bcgsc.ca	37	7	100487872	100487872	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr7:100487872T>C	ENST00000412389.1	-	4	1963	c.1808A>G	c.(1807-1809)gAc>gGc	p.D603G	ACHE_ENST00000419336.2_Missense_Mutation_p.D515G|ACHE_ENST00000428317.1_Missense_Mutation_p.D603G|ACHE_ENST00000302913.4_3'UTR|ACHE_ENST00000241069.5_Missense_Mutation_p.D603G|UFSP1_ENST00000388761.2_5'Flank			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	603					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	GCTGTAGTGGTCGAACTGGTT	0.632																																					p.D603G		.											.	ACHE	92	0			c.A1808G						.						66.0	57.0	60.0					7																	100487872		2203	4300	6503	SO:0001583	missense	43	exon5			TAGTGGTCGAACT		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.1808A>G	7.37:g.100487872T>C	ENSP00000394976:p.Asp603Gly	207.0	0.0		141.0	6.0	NM_000665	A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	ENST00000412389.1	37	CCDS5709.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.2|25.2	4.615153|4.615153	0.87359|0.87359	.|.	.|.	ENSG00000087085|ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000412389|ENST00000426415;ENST00000430554	T;T;T;T|T;T	0.69435|0.68479	-0.4;-0.28;-0.28;-0.28|-0.33;-0.1	4.32|4.32	4.32|4.32	0.51571|0.51571	Acetylcholinesterase, tetramerisation (2);|.	0.000000|.	0.64402|.	U|.	0.000003|.	T|T	0.71082|0.71082	0.3298|0.3298	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.987;0.999|.	P;D|.	0.74674|.	0.797;0.984|.	T|T	0.74150|0.74150	-0.3758|-0.3758	10|7	0.56958|0.87932	D|D	0.05|0	.|.	11.4294|11.4294	0.50032|0.50032	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	515;603|.	P22303-3;P22303|.	.;ACES_HUMAN|.	G|A	515;603;603;603|385;422	ENSP00000403474:D515G;ENSP00000241069:D603G;ENSP00000414858:D603G;ENSP00000394976:D603G|ENSP00000397143:T385A;ENSP00000399725:T422A	ENSP00000241069:D603G|ENSP00000397143:T385A	D|T	-|-	2|1	0|0	ACHE|ACHE	100325808|100325808	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	5.040000|5.040000	0.64191|0.64191	1.599000|1.599000	0.50093|0.50093	0.260000|0.260000	0.18958|0.18958	GAC|ACC	.		0.632	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831	
ACOX1	51	hgsc.bcm.edu;bcgsc.ca	37	17	73944528	73944528	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr17:73944528A>G	ENST00000301608.4	-	13	1799	c.1739T>C	c.(1738-1740)aTg>aCg	p.M580T	ACOX1_ENST00000537812.1_Missense_Mutation_p.M542T|ACOX1_ENST00000293217.5_Missense_Mutation_p.M580T	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	580					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	AGGCTCTGTCATGATGCTCCC	0.353																																					p.M580T		.											.	ACOX1	91	0			c.T1739C						.						108.0	95.0	100.0					17																	73944528		2203	4300	6503	SO:0001583	missense	51	exon13			TCTGTCATGATGC	U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"""acyl-Coenzyme A oxidase 1, palmitoyl"""			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.1739T>C	17.37:g.73944528A>G	ENSP00000301608:p.Met580Thr	53.0	0.0		69.0	4.0	NM_007292	A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Missense_Mutation	SNP	ENST00000301608.4	37	CCDS11735.1	.	.	.	.	.	.	.	.	.	.	A	15.93	2.977101	0.53720	.	.	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000537812;ENST00000539791;ENST00000538781	T;T;T	0.42513	0.97;0.97;0.97	5.25	5.25	0.73442	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.324513	0.38005	N	0.001844	T	0.45836	0.1362	L	0.58583	1.82	0.40381	D	0.979449	B;B;B;B	0.26041	0.127;0.127;0.14;0.014	B;B;B;B	0.32583	0.096;0.096;0.148;0.023	T	0.49513	-0.8932	10	0.66056	D	0.02	-10.2759	15.8659	0.79063	1.0:0.0:0.0:0.0	.	512;542;580;580	F5H0M0;F5GYQ8;Q15067;Q15067-2	.;.;ACOX1_HUMAN;.	T	580;580;542;580;512	ENSP00000301608:M580T;ENSP00000293217:M580T;ENSP00000441257:M542T	ENSP00000293217:M580T	M	-	2	0	ACOX1	71456123	1.000000	0.71417	0.985000	0.45067	0.927000	0.56198	8.460000	0.90369	2.289000	0.77006	0.533000	0.62120	ATG	.		0.353	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1		
ADAMTS20	80070	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	43847742	43847742	+	Silent	SNP	G	G	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr12:43847742G>A	ENST00000389420.3	-	12	1727	c.1728C>T	c.(1726-1728)atC>atT	p.I576I	ADAMTS20_ENST00000553158.1_Silent_p.I576I	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	576	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTGCACTTTCGATTCCGCCTC	0.413																																					p.I576I		.											ADAMTS20,brain,glioma,-1	ADAMTS20	795	0			c.C1728T						.						117.0	92.0	100.0					12																	43847742		2203	4300	6503	SO:0001819	synonymous_variant	80070	exon12			ACTTTCGATTCCG	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1728C>T	12.37:g.43847742G>A		105.0	0.0		76.0	46.0	NM_025003	A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	CCDS31778.2																																																																																			.		0.413	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	
ADAMTS20	80070	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	43847776	43847776	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr12:43847776T>C	ENST00000389420.3	-	12	1693	c.1694A>G	c.(1693-1695)tAc>tGc	p.Y565C	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.Y565C	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	565	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACAAGAACTGTAAGGTTCCCA	0.403																																					p.Y565C		.											.	ADAMTS20	795	0			c.A1694G						.						115.0	93.0	100.0					12																	43847776		2203	4300	6503	SO:0001583	missense	80070	exon12			GAACTGTAAGGTT	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1694A>G	12.37:g.43847776T>C	ENSP00000374071:p.Tyr565Cys	114.0	0.0		87.0	47.0	NM_025003	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	T	17.96	3.517057	0.64634	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.53423	0.62;0.62	4.77	3.6	0.41247	.	0.153604	0.30151	N	0.010297	T	0.70413	0.3221	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.75161	-0.3415	10	0.87932	D	0	.	12.1553	0.54072	0.0:0.0:0.1435:0.8565	.	565	P59510	ATS20_HUMAN	C	565	ENSP00000374071:Y565C;ENSP00000448341:Y565C	ENSP00000374068:Y565C	Y	-	2	0	ADAMTS20	42134043	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.276000	0.43408	0.901000	0.36495	0.477000	0.44152	TAC	.		0.403	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	
ADAMTSL3	57188	hgsc.bcm.edu;bcgsc.ca	37	15	84694002	84694002	+	Silent	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr15:84694002T>C	ENST00000286744.5	+	27	4694	c.4470T>C	c.(4468-4470)agT>agC	p.S1490S	ADAMTSL3_ENST00000567476.1_Silent_p.S1490S	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1490	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGTTCACAAGTGTGTGGTCAC	0.502																																					p.S1490S		.											.	ADAMTSL3	1153	0			c.T4470C						.						166.0	133.0	144.0					15																	84694002		2203	4299	6502	SO:0001819	synonymous_variant	57188	exon27			CACAAGTGTGTGG	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.4470T>C	15.37:g.84694002T>C		106.0	0.0		54.0	5.0	NM_207517	A1A566|A1A567|Q9ULI7	Silent	SNP	ENST00000286744.5	37	CCDS10326.1																																																																																			.		0.502	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517	
ADAT2	134637	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	143755117	143755117	+	Splice_Site	SNP	G	G	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr6:143755117G>A	ENST00000237283.8	-	3	217	c.203C>T	c.(202-204)gCt>gTt	p.A68V	ADAT2_ENST00000606514.1_Splice_Site_p.A21V	NM_182503.2	NP_872309.2	Q7Z6V5	ADAT2_HUMAN	adenosine deaminase, tRNA-specific 2	68					tRNA wobble adenosine to inosine editing (GO:0002100)		tRNA-specific adenosine deaminase activity (GO:0008251)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(3)	8				OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)		ATGTCGAGTAGCCTGAAAAGA	0.418																																					p.A68V		.											.	ADAT2	90	0			c.C203T						.						131.0	125.0	127.0					6																	143755117		1979	4158	6137	SO:0001630	splice_region_variant	134637	exon3			CGAGTAGCCTGAA	BC037955	CCDS43511.1, CCDS69219.1	6q24.2	2014-01-28	2011-05-19	2007-08-16	ENSG00000189007	ENSG00000189007			21172	protein-coding gene	gene with protein product	tRNA-specific adenosine deaminase 2 homolog (S. cerevisiae)	615388	"""deaminase domain containing 1"", ""adenosine deaminase, tRNA-specific 2, TAD2 homolog (S. cerevisiae)"""	DEADC1		12457566	Standard	NM_182503		Approved	dJ20N2.1, TAD2	uc003qjj.3	Q7Z6V5	OTTHUMG00000015725	ENST00000237283.8:c.202-1C>T	6.37:g.143755117G>A		37.0	0.0		25.0	17.0	NM_182503	A6NL12|B3KWY3|Q7Z327|Q8IY39	Missense_Mutation	SNP	ENST00000237283.8	37	CCDS43511.1	.	.	.	.	.	.	.	.	.	.	G	32	5.119043	0.94385	.	.	ENSG00000189007	ENST00000367594;ENST00000237283	T	0.41758	0.99	4.37	4.37	0.52481	Cytidine deaminase-like (1);CMP/dCMP deaminase, zinc-binding (1);	0.000000	0.85682	D	0.000000	T	0.52853	0.1760	L	0.55017	1.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.56811	-0.7917	10	0.59425	D	0.04	-17.6129	17.1223	0.86705	0.0:0.0:1.0:0.0	.	68	Q7Z6V5	ADAT2_HUMAN	V	21;68	ENSP00000237283:A68V	ENSP00000237283:A68V	A	-	2	0	ADAT2	143796810	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.782000	0.91809	2.254000	0.74563	0.650000	0.86243	GCT	.		0.418	ADAT2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042517.1	XM_059727	Missense_Mutation
ADCY8	114	hgsc.bcm.edu;bcgsc.ca	37	8	131795974	131795974	+	Silent	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr8:131795974G>T	ENST00000286355.5	-	17	5323	c.3231C>A	c.(3229-3231)atC>atA	p.I1077I	ADCY8_ENST00000377928.3_Silent_p.I946I	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1077					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.I1077I(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AATGCTTGTTGATCTCCTGTA	0.502										HNSCC(32;0.087)																											p.I1077I		.											.	ADCY8	157	1	Substitution - coding silent(1)	lung(1)	c.C3231A						.						163.0	148.0	153.0					8																	131795974		2203	4300	6503	SO:0001819	synonymous_variant	114	exon17			CTTGTTGATCTCC	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3231C>A	8.37:g.131795974G>T		115.0	0.0		110.0	6.0	NM_001115		Silent	SNP	ENST00000286355.5	37	CCDS6363.1																																																																																			.		0.502	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1		
ADCYAP1R1	117	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	7	31125006	31125006	+	Silent	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr7:31125006A>G	ENST00000304166.4	+	9	907	c.618A>G	c.(616-618)aaA>aaG	p.K206K	ADCYAP1R1_ENST00000396211.2_Silent_p.K206K|ADCYAP1R1_ENST00000409363.1_Silent_p.K185K|ADCYAP1R1_ENST00000409489.1_Silent_p.K206K	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	206					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TCTTCATCAAAGACTGGATTC	0.552																																					p.K206K	Ovarian(44;225 1186 2158 11092)	.											.	ADCYAP1R1	91	0			c.A618G						.						191.0	152.0	165.0					7																	31125006		2203	4300	6503	SO:0001819	synonymous_variant	117	exon9			CATCAAAGACTGG		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.618A>G	7.37:g.31125006A>G		39.0	0.0		39.0	4.0	NM_001118	A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Silent	SNP	ENST00000304166.4	37	CCDS5433.1																																																																																			.		0.552	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118	
AGBL1	123624	hgsc.bcm.edu;bcgsc.ca	37	15	87097688	87097688	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr15:87097688G>T	ENST00000441037.2	+	20	2871	c.2776G>T	c.(2776-2778)Gtg>Ttg	p.V926L	AGBL1_ENST00000389298.3_Missense_Mutation_p.V657L|AGBL1_ENST00000421325.2_Missense_Mutation_p.V926L	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	926					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GGCCCGGGTGGTGGTGTGGAG	0.542																																					p.V926L		.											.	.	.	0			c.G2776T						.						29.0	31.0	31.0					15																	87097688		1910	4124	6034	SO:0001583	missense	123624	exon20			CGGGTGGTGGTGT	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2776G>T	15.37:g.87097688G>T	ENSP00000413001:p.Val926Leu	133.0	0.0		103.0	5.0	NM_152336	A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374134	0.82573	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.10382	2.88;2.88	4.97	4.05	0.47172	Peptidase M14, carboxypeptidase A (1);	0.199496	0.22238	U	0.062729	T	0.21674	0.0522	M	0.81341	2.54	0.33073	D	0.5356	P	0.41475	0.751	P	0.45167	0.472	T	0.39099	-0.9630	10	0.72032	D	0.01	-10.6475	12.5513	0.56227	0.0799:0.0:0.9201:0.0	.	926	Q96MI9	CBPC4_HUMAN	L	961;926;657	ENSP00000397173:V926L;ENSP00000373949:V657L	ENSP00000373949:V657L	V	+	1	0	AGBL1	84898692	1.000000	0.71417	0.977000	0.42913	0.847000	0.48162	9.477000	0.97925	1.337000	0.45525	-0.145000	0.13849	GTG	.		0.542	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336	
AHNAK	79026	hgsc.bcm.edu;bcgsc.ca	37	11	62300901	62300901	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr11:62300901T>C	ENST00000378024.4	-	5	1262	c.988A>G	c.(988-990)Agg>Ggg	p.R330G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	330					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCAGAAACCCTCAGCCCTGCC	0.542																																					p.R330G		.											.	AHNAK	109	0			c.A988G						.						61.0	65.0	63.0					11																	62300901		2202	4299	6501	SO:0001583	missense	79026	exon5			AAACCCTCAGCCC	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.988A>G	11.37:g.62300901T>C	ENSP00000367263:p.Arg330Gly	106.0	0.0		76.0	4.0	NM_001620	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	T	6.865	0.529006	0.13127	.	.	ENSG00000124942	ENST00000378024	T	0.00730	5.77	5.05	2.36	0.29203	.	1.083490	0.07313	U	0.876171	T	0.00580	0.0019	N	0.03608	-0.345	0.09310	N	1	B	0.24132	0.098	B	0.23716	0.048	T	0.47459	-0.9116	10	0.39692	T	0.17	-0.5385	8.1366	0.31058	0.0:0.1978:0.0:0.8022	.	330	Q09666	AHNK_HUMAN	G	330	ENSP00000367263:R330G	ENSP00000367263:R330G	R	-	1	2	AHNAK	62057477	0.004000	0.15560	0.636000	0.29352	0.484000	0.33280	0.859000	0.27858	0.770000	0.33336	0.528000	0.53228	AGG	.		0.542	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
AIM1	202	hgsc.bcm.edu;bcgsc.ca	37	6	106999726	106999726	+	Splice_Site	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr6:106999726G>T	ENST00000369066.3	+	12	4575		c.e12-1		AIM1_ENST00000535438.1_Splice_Site|AIM1_ENST00000487681.1_Splice_Site	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1						developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TTGTTTCTTAGATGGGTAGCC	0.328																																					.		.											.	AIM1	139	0			c.4089-1G>T						.						79.0	88.0	85.0					6																	106999726		2203	4298	6501	SO:0001630	splice_region_variant	202	exon12			TTCTTAGATGGGT	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.4089-1G>T	6.37:g.106999726G>T		161.0	0.0		98.0	4.0	NM_001624	Q6P2P0|Q9BTM3	Splice_Site	SNP	ENST00000369066.3	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	G	36	5.621912	0.96660	.	.	ENSG00000112297	ENST00000369066;ENST00000457437;ENST00000535438	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2723	0.98479	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AIM1	107106419	1.000000	0.71417	0.770000	0.31555	0.944000	0.59088	9.463000	0.97652	2.793000	0.96121	0.563000	0.77884	.	.		0.328	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1		Intron
AKT2	208	hgsc.bcm.edu;bcgsc.ca	37	19	40761108	40761108	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr19:40761108T>C	ENST00000392038.2	-	4	542	c.244A>G	c.(244-246)Aca>Gca	p.T82A	AKT2_ENST00000424901.1_Missense_Mutation_p.T82A|AKT2_ENST00000311278.6_Missense_Mutation_p.T82A|AKT2_ENST00000579047.1_Missense_Mutation_p.T20A	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	82	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			TCGATGACTGTGGTCCACTGC	0.602			A		"""ovarian, pancreatic """																																p.T82A		.		Dom	yes		19	19q13.1-q13.2	208	v-akt murine thymoma viral oncogene homolog 2		E	.	AKT2	978	0			c.A244G						.						135.0	130.0	131.0					19																	40761108		2203	4300	6503	SO:0001583	missense	208	exon4			TGACTGTGGTCCA	M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.244A>G	19.37:g.40761108T>C	ENSP00000375892:p.Thr82Ala	138.0	0.0		121.0	6.0	NM_001626	B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Missense_Mutation	SNP	ENST00000392038.2	37	CCDS12552.1	.	.	.	.	.	.	.	.	.	.	T	13.60	2.284485	0.40394	.	.	ENSG00000105221	ENST00000392038;ENST00000358335;ENST00000424901;ENST00000311278;ENST00000537834;ENST00000452077;ENST00000392037;ENST00000416362;ENST00000423127;ENST00000456441;ENST00000416994	T;T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	4.71	4.71	0.59529	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.107611	0.64402	D	0.000009	T	0.62332	0.2419	M	0.90542	3.125	0.80722	D	1	B;B;P;B	0.39480	0.217;0.403;0.675;0.201	P;B;B;B	0.44772	0.46;0.2;0.345;0.261	T	0.70706	-0.4798	10	0.66056	D	0.02	.	13.152	0.59494	0.0:0.0:0.0:1.0	.	82;20;82;82	B7Z8Z9;B4DG79;Q0VAN0;P31751	.;.;.;AKT2_HUMAN	A	82;81;82;82;82;82;82;82;82;82;82	ENSP00000375892:T82A;ENSP00000399532:T82A;ENSP00000309428:T82A;ENSP00000404083:T82A;ENSP00000375891:T82A;ENSP00000407999:T82A;ENSP00000403842:T82A;ENSP00000396532:T82A;ENSP00000392458:T82A	ENSP00000309428:T82A	T	-	1	0	AKT2	45452948	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	3.106000	0.50322	1.770000	0.52166	0.482000	0.46254	ACA	.		0.602	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626	
ALB	213	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	74275125	74275126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr4:74275125_74275126insC	ENST00000503124.1	+	3	293_294	c.86_87insC	c.(85-90)cttttcfs	p.LF29fs	ALB_ENST00000401494.3_Frame_Shift_Ins_p.LF64fs|ALB_ENST00000415165.2_Intron|ALB_ENST00000295897.4_Frame_Shift_Ins_p.LF179fs|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Frame_Shift_Ins_p.LF179fs			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCGGAACTCCTTTTCTTTGCTA	0.351																																					p.L179fs		.											.	ALB	96	0			c.536_537insC						.																																			SO:0001589	frameshift_variant	213	exon5			AACTCCTTTTCTT	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	Exception_encountered	4.37:g.74275125_74275126insC	ENSP00000421027:p.Leu29fs	388.0	0.0		297.0	155.0	NM_000477	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Frame_Shift_Ins	INS	ENST00000503124.1	37																																																																																				.		0.351	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477	
ALB	213	hgsc.bcm.edu;bcgsc.ca	37	4	74275126	74275126	+	Silent	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr4:74275126T>C	ENST00000503124.1	+	3	294	c.87T>C	c.(85-87)ctT>ctC	p.L29L	ALB_ENST00000401494.3_Silent_p.L64L|ALB_ENST00000415165.2_Intron|ALB_ENST00000295897.4_Silent_p.L179L|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Silent_p.L179L			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CGGAACTCCTTTTCTTTGCTA	0.353																																					p.L179L		.											.	ALB	96	0			c.T537C						.						72.0	76.0	75.0					4																	74275126		2203	4299	6502	SO:0001819	synonymous_variant	213	exon5			ACTCCTTTTCTTT	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.87T>C	4.37:g.74275126T>C		388.0	0.0		294.0	173.0	NM_000477	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Silent	SNP	ENST00000503124.1	37		.	.	.	.	.	.	.	.	.	.	T	14.14	2.447201	0.43429	.	.	ENSG00000163631	ENST00000511370	.	.	.	5.55	-3.31	0.04988	.	.	.	.	.	T	0.41696	0.1170	.	.	.	0.46149	D	0.998893	.	.	.	.	.	.	T	0.33624	-0.9861	4	.	.	.	-11.4619	3.7631	0.08611	0.1125:0.1341:0.462:0.2914	.	.	.	.	L	24	.	.	F	+	1	0	ALB	74493990	0.001000	0.12720	0.195000	0.23364	0.710000	0.40934	-0.314000	0.08092	-0.676000	0.05238	0.482000	0.46254	TTT	.		0.353	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477	
ALB	213	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	74275205	74275205	+	Splice_Site	SNP	G	G	A	rs75828235		TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr4:74275205G>A	ENST00000503124.1	+	3	372		c.e3+1		ALB_ENST00000401494.3_Splice_Site|ALB_ENST00000415165.2_Intron|ALB_ENST00000295897.4_Splice_Site|ALB_ENST00000505649.1_Splice_Site|ALB_ENST00000509063.1_Splice_Site			Q8TES7	FBF1_HUMAN	albumin						apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTTGCCAAAGGTATTATGCAA	0.388																																					.		.											.	ALB	96	0			c.615+1G>A						.						71.0	74.0	73.0					4																	74275205		2203	4299	6502	SO:0001630	splice_region_variant	213	exon5			CCAAAGGTATTAT	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.165+1G>A	4.37:g.74275205G>A		198.0	0.0		144.0	41.0	NM_000477	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Splice_Site	SNP	ENST00000503124.1	37		.	.	.	.	.	.	.	.	.	.	G	11.04	1.521991	0.27211	.	.	ENSG00000163631	ENST00000295897;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202;ENST00000511370	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9449	0.89036	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ALB	74494069	1.000000	0.71417	1.000000	0.80357	0.133000	0.20885	5.592000	0.67543	2.894000	0.99253	0.591000	0.81541	.	.		0.388	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477	Intron
AMBRA1	55626	hgsc.bcm.edu;bcgsc.ca	37	11	46569854	46569854	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr11:46569854T>C	ENST00000458649.2	-	2	495	c.77A>G	c.(76-78)cAg>cGg	p.Q26R	AMBRA1_ENST00000533727.1_Missense_Mutation_p.Q26R|AMBRA1_ENST00000426438.1_Missense_Mutation_p.Q26R|AMBRA1_ENST00000314845.3_Missense_Mutation_p.Q26R|AMBRA1_ENST00000534300.1_Missense_Mutation_p.Q26R|AMBRA1_ENST00000528950.1_Missense_Mutation_p.Q26R|AMBRA1_ENST00000298834.3_Missense_Mutation_p.Q26R			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	26					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CAGAAGCCGCTGAGCTCCCAT	0.537																																					p.Q26R		.											.	AMBRA1	136	0			c.A77G						.						172.0	187.0	182.0					11																	46569854		2201	4299	6500	SO:0001583	missense	55626	exon2			AGCCGCTGAGCTC	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.77A>G	11.37:g.46569854T>C	ENSP00000415327:p.Gln26Arg	160.0	0.0		97.0	5.0	NM_001267783	A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37		.	.	.	.	.	.	.	.	.	.	T	21.0	4.075037	0.76415	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	T;T;T;T;T;T;T	0.70282	-0.31;-0.47;-0.19;-0.31;-0.19;-0.29;-0.31	6.08	6.08	0.98989	.	0.104010	0.64402	D	0.000002	T	0.75547	0.3864	N	0.22421	0.69	0.58432	D	0.999998	D;D;D;D;D;D	0.63046	0.987;0.992;0.992;0.992;0.992;0.992	D;D;D;D;D;D	0.72982	0.953;0.979;0.979;0.979;0.979;0.979	T	0.77239	-0.2661	10	0.49607	T	0.09	.	16.6512	0.85203	0.0:0.0:0.0:1.0	.	26;26;26;26;26;26	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	R	26	ENSP00000318313:Q26R;ENSP00000433372:Q26R;ENSP00000431926:Q26R;ENSP00000410899:Q26R;ENSP00000298834:Q26R;ENSP00000415327:Q26R;ENSP00000433945:Q26R	ENSP00000298834:Q26R	Q	-	2	0	AMBRA1	46526430	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.331000	0.79192	2.333000	0.79357	0.482000	0.46254	CAG	.		0.537	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749	
AMMECR1L	83607	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	128628438	128628438	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr2:128628438C>T	ENST00000272647.5	-	5	843	c.583G>A	c.(583-585)Gtc>Atc	p.V195I	AMMECR1L_ENST00000393001.1_Missense_Mutation_p.V195I	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	195	AMMECR1. {ECO:0000255|PROSITE- ProRule:PRU00467}.							p.V195L(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		AGGAGGGAGACAGAGCAGAAA	0.522																																					p.V195I		.											.	AMMECR1L	90	1	Substitution - Missense(1)	lung(1)	c.G583A						.						64.0	59.0	60.0					2																	128628438		2203	4300	6503	SO:0001583	missense	83607	exon5			GGGAGACAGAGCA		CCDS2152.1	2q21	2012-11-15	2012-11-15		ENSG00000144233	ENSG00000144233			28658	protein-coding gene	gene with protein product			"""AMME chromosomal region gene 1-like"""				Standard	NM_001199140		Approved	MGC4268	uc002tpl.3	Q6DCA0	OTTHUMG00000131535	ENST00000272647.5:c.583G>A	2.37:g.128628438C>T	ENSP00000272647:p.Val195Ile	157.0	0.0		125.0	70.0	NM_031445	B4E276	Missense_Mutation	SNP	ENST00000272647.5	37	CCDS2152.1	.	.	.	.	.	.	.	.	.	.	C	36	5.707123	0.96821	.	.	ENSG00000144233	ENST00000272647;ENST00000393001	.	.	.	5.46	5.46	0.80206	AMMECR1 domain (2);	0.000000	0.64402	D	0.000002	T	0.75287	0.3829	L	0.54908	1.71	0.80722	D	1	P	0.51351	0.944	D	0.64237	0.923	T	0.72337	-0.4324	9	0.40728	T	0.16	-15.9275	19.6629	0.95879	0.0:1.0:0.0:0.0	.	195	Q6DCA0	AMERL_HUMAN	I	195	.	ENSP00000272647:V195I	V	-	1	0	AMMECR1L	128344908	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.726000	0.93360	0.655000	0.94253	GTC	.		0.522	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254392.1	NM_031445	
AMOTL1	154810	hgsc.bcm.edu;bcgsc.ca	37	11	94602390	94602390	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr11:94602390A>G	ENST00000433060.2	+	12	2657	c.2516A>G	c.(2515-2517)gAg>gGg	p.E839G	AMOTL1_ENST00000317837.9_Missense_Mutation_p.E426G|AMOTL1_ENST00000317829.8_Missense_Mutation_p.E789G	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	839					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GAGCACCATGAGCATGCCTCT	0.522																																					p.E839G		.											.	AMOTL1	91	0			c.A2516G						.						29.0	37.0	34.0					11																	94602390		2138	4240	6378	SO:0001583	missense	154810	exon12			ACCATGAGCATGC	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.2516A>G	11.37:g.94602390A>G	ENSP00000387739:p.Glu839Gly	108.0	0.0		93.0	5.0	NM_130847	Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	A	13.50	2.257003	0.39896	.	.	ENSG00000166025	ENST00000317829;ENST00000317837;ENST00000433060	T;T;T	0.46451	2.2;0.87;2.19	5.59	4.47	0.54385	.	0.389493	0.26286	N	0.025245	T	0.25754	0.0627	N	0.16478	0.41	0.22762	N	0.998762	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.14615	-1.0466	10	0.24483	T	0.36	-4.8031	10.6353	0.45560	0.9243:0.0:0.0757:0.0	.	789;839	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	G	789;426;839	ENSP00000320968:E789G;ENSP00000323474:E426G;ENSP00000387739:E839G	ENSP00000320968:E789G	E	+	2	0	AMOTL1	94242038	0.994000	0.37717	0.020000	0.16555	0.056000	0.15407	3.144000	0.50616	0.984000	0.38629	0.459000	0.35465	GAG	.		0.522	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847	
ANKRD44	91526	hgsc.bcm.edu;bcgsc.ca	37	2	197954757	197954757	+	Splice_Site	SNP	C	C	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr2:197954757C>A	ENST00000328737.2	-	11	1102		c.e11-1		ANKRD44_ENST00000477852.1_5'Flank|ANKRD44_ENST00000282272.8_Splice_Site|ANKRD44_ENST00000409153.1_Splice_Site|ANKRD44_ENST00000450567.1_Splice_Site|ANKRD44_ENST00000337207.5_Splice_Site|ANKRD44_ENST00000539527.1_Splice_Site			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44											NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GATTCCACACCTGAGGAGTAA	0.413																																					.		.											.	ANKRD44	230	0			c.1101-1G>T						.						102.0	93.0	96.0					2																	197954757		2203	4300	6503	SO:0001630	splice_region_variant	91526	exon12			CCACACCTGAGGA	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1026-1G>T	2.37:g.197954757C>A		95.0	0.0		105.0	5.0	NM_001195144	Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Splice_Site	SNP	ENST00000328737.2	37		.	.	.	.	.	.	.	.	.	.	C	25.0	4.590966	0.86851	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000422886;ENST00000409153;ENST00000539527	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1694	0.93570	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKRD44	197663002	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.434000	0.80377	2.765000	0.95021	0.655000	0.94253	.	.		0.413	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697	Intron
APBA3	9546	hgsc.bcm.edu;bcgsc.ca	37	19	3754233	3754233	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr19:3754233G>A	ENST00000316757.3	-	4	922	c.722C>T	c.(721-723)aCg>aTg	p.T241M	AC005954.4_ENST00000586503.1_RNA|AC005954.3_ENST00000591962.1_RNA	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	241	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|negative regulation of catalytic activity (GO:0043086)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCATGCGCGTGCTGGTGGG	0.716																																					p.T241M		.											.	APBA3	90	0			c.C722T						.																																			SO:0001583	missense	9546	exon4			ATGCGCGTGCTGG	AB021638	CCDS12110.1	19p13.3	2008-07-18	2008-07-18			ENSG00000011132			580	protein-coding gene	gene with protein product	"""X11-like 2"""	604262				10049767	Standard	NM_004886		Approved	X11L2, mint3	uc002lyp.1	O96018		ENST00000316757.3:c.722C>T	19.37:g.3754233G>A	ENSP00000315136:p.Thr241Met	76.0	0.0		69.0	4.0	NM_004886	O60483|Q9UPZ2	Missense_Mutation	SNP	ENST00000316757.3	37	CCDS12110.1	.	.	.	.	.	.	.	.	.	.	G	9.472	1.095827	0.20552	.	.	ENSG00000011132	ENST00000316757	T	0.23147	1.92	4.63	3.59	0.41128	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.304109	0.29987	N	0.010684	T	0.21062	0.0507	L	0.55743	1.74	0.34727	D	0.729309	P	0.36110	0.537	B	0.30251	0.113	T	0.30822	-0.9965	10	0.59425	D	0.04	.	8.4739	0.33001	0.204:0.0:0.796:0.0	.	241	O96018	APBA3_HUMAN	M	241	ENSP00000315136:T241M	ENSP00000315136:T241M	T	-	2	0	APBA3	3705233	0.015000	0.18098	0.633000	0.29310	0.212000	0.24457	1.436000	0.34980	0.927000	0.37143	0.462000	0.41574	ACG	.		0.716	APBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453634.2		
ARHGAP25	9938	hgsc.bcm.edu;bcgsc.ca	37	2	69043419	69043419	+	Splice_Site	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr2:69043419A>G	ENST00000295381.3	+	7	1223		c.e7-1		ARHGAP25_ENST00000467265.1_Splice_Site|ARHGAP25_ENST00000409220.1_Splice_Site|ARHGAP25_ENST00000497079.1_Splice_Site|ARHGAP25_ENST00000479844.1_5'Flank|ARHGAP25_ENST00000409202.3_Splice_Site|ARHGAP25_ENST00000409030.3_Splice_Site|ARHGAP25_ENST00000544262.1_3'UTR	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						ATCTCTTCCCAGGCTCAGCAG	0.493																																					.		.											.	ARHGAP25	274	0			c.688-2A>G						.						97.0	90.0	93.0					2																	69043419		2203	4300	6503	SO:0001630	splice_region_variant	9938	exon6			CTTCCCAGGCTCA	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.805-1A>G	2.37:g.69043419A>G		88.0	0.0		78.0	4.0	NM_001166277	A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Splice_Site	SNP	ENST00000295381.3	37		.	.	.	.	.	.	.	.	.	.	A	23.0	4.361753	0.82353	.	.	ENSG00000163219	ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533;ENST00000497259	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4228	0.75025	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGAP25	68896923	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.938000	0.92943	2.241000	0.73720	0.477000	0.44152	.	.		0.493	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882	Intron
ARTN	9048	hgsc.bcm.edu;bcgsc.ca	37	1	44401362	44401362	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr1:44401362T>C	ENST00000372359.5	+	3	816	c.34T>C	c.(34-36)Tcc>Ccc	p.S12P	ARTN_ENST00000472435.1_Missense_Mutation_p.S12P|ARTN_ENST00000498139.2_Missense_Mutation_p.S12P|ARTN_ENST00000438616.3_5'Flank|ARTN_ENST00000414809.3_Missense_Mutation_p.S12P|ARTN_ENST00000479128.1_Missense_Mutation_p.S12P|ARTN_ENST00000372354.3_Missense_Mutation_p.S12P	NM_057091.2	NP_476432.2	Q5T4W7	ARTN_HUMAN	artemin	12					axon guidance (GO:0007411)|induction of positive chemotaxis (GO:0050930)|lymphocyte migration into lymphoid organs (GO:0097021)|neuroblast proliferation (GO:0007405)|peripheral nervous system development (GO:0007422)|Peyer's patch morphogenesis (GO:0061146)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	receptor binding (GO:0005102)					Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CTCCACGCTGTCCCACTGCCC	0.597																																					p.S12P		.											.	ARTN	90	0			c.T34C						.						91.0	64.0	73.0					1																	44401362		2203	4300	6503	SO:0001583	missense	9048	exon2			ACGCTGTCCCACT	AF109401	CCDS501.1, CCDS502.1	1p33-p32	2014-01-30			ENSG00000117407	ENSG00000117407		"""Endogenous ligands"""	727	protein-coding gene	gene with protein product	"""neublastin"", ""neurotrophic factor"""	603886				9883723	Standard	NM_057090		Approved	NBN, EVN, ENOVIN	uc001ckt.3	Q5T4W7	OTTHUMG00000007705	ENST00000372359.5:c.34T>C	1.37:g.44401362T>C	ENSP00000361434:p.Ser12Pro	192.0	0.0		103.0	5.0	NM_001136215	D3DPY1|D3DPY3|O95441|O96030|Q6P6A3	Missense_Mutation	SNP	ENST00000372359.5	37	CCDS501.1	.	.	.	.	.	.	.	.	.	.	T	12.62	1.993505	0.35131	.	.	ENSG00000117407	ENST00000372359;ENST00000414809;ENST00000477048;ENST00000471394;ENST00000498139;ENST00000491846;ENST00000479128;ENST00000472435;ENST00000474592;ENST00000372354	D;D;T;T;D;T;T;T;T;D	0.84146	-1.81;-1.81;0.62;0.62;-1.81;0.65;0.62;0.62;0.65;-1.81	3.77	0.451	0.16629	.	1.699210	0.03814	N	0.266359	T	0.70439	0.3224	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.57277	-0.7839	10	0.33940	T	0.23	.	5.4568	0.16594	0.0:0.5345:0.0:0.4655	.	12;12	Q5T4W7-3;Q5T4W7	.;ARTN_HUMAN	P	12	ENSP00000361434:S12P;ENSP00000387435:S12P;ENSP00000434784:S12P;ENSP00000435804:S12P;ENSP00000436727:S12P;ENSP00000436149:S12P;ENSP00000434071:S12P;ENSP00000435140:S12P;ENSP00000434856:S12P;ENSP00000361429:S12P	ENSP00000361429:S12P	S	+	1	0	ARTN	44173949	0.767000	0.28508	0.002000	0.10522	0.075000	0.17131	0.732000	0.26072	0.088000	0.17205	0.533000	0.62120	TCC	.		0.597	ARTN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000020713.2	NM_057090	
ARHGEF2	9181	hgsc.bcm.edu;bcgsc.ca	37	1	155927648	155927648	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr1:155927648T>C	ENST00000361247.4	-	13	1670	c.1571A>G	c.(1570-1572)cAg>cGg	p.Q524R	ARHGEF2_ENST00000313667.4_Missense_Mutation_p.Q523R|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.Q496R|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.Q496R|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.Q569R|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.Q525R|ARHGEF2_ENST00000477754.2_Intron	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	524	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GATTAGATTCTGCAGCGATAC	0.522																																					p.Q524R	Melanoma(178;35 2768 6610 28839)	.											.	ARHGEF2	228	0			c.A1571G						.						89.0	64.0	72.0					1																	155927648		2203	4300	6503	SO:0001583	missense	9181	exon13			AGATTCTGCAGCG	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1571A>G	1.37:g.155927648T>C	ENSP00000354837:p.Gln524Arg	131.0	0.0		101.0	5.0	NM_001162383	D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.579088	0.86645	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93	5.28	5.28	0.74379	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.45606	D	0.000343	T	0.74884	0.3775	L	0.55834	1.745	0.49389	D	0.999789	P;D;P	0.57257	0.883;0.979;0.858	P;P;P	0.57846	0.771;0.828;0.535	T	0.78677	-0.2111	10	0.66056	D	0.02	-39.65	13.1991	0.59756	0.0:0.0:0.0:1.0	.	568;524;523	D3DVA5;Q92974;Q92974-2	.;ARHG2_HUMAN;.	R	496;524;525;496;523	ENSP00000315325:Q496R;ENSP00000354837:Q524R;ENSP00000357298:Q525R;ENSP00000357299:Q496R;ENSP00000314787:Q523R	ENSP00000314787:Q523R	Q	-	2	0	ARHGEF2	154194272	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.632000	0.54287	2.213000	0.71641	0.528000	0.53228	CAG	.		0.522	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723	
ASAP1	50807	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	131130888	131130888	+	Silent	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr8:131130888A>G	ENST00000518721.1	-	19	1868	c.1641T>C	c.(1639-1641)taT>taC	p.Y547Y	ASAP1_ENST00000357668.1_Silent_p.Y547Y	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	547	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TATGATCTACATACTTTGCAG	0.333																																					p.Y547Y		.											.	ASAP1	95	0			c.T1641C						.						81.0	77.0	78.0					8																	131130888		2203	4300	6503	SO:0001819	synonymous_variant	50807	exon19			ATCTACATACTTT	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1641T>C	8.37:g.131130888A>G		177.0	0.0		263.0	72.0	NM_018482	B2RNV3	Silent	SNP	ENST00000518721.1	37	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	A	8.808	0.934450	0.18206	.	.	ENSG00000153317	ENST00000524124	.	.	.	5.86	0.792	0.18625	.	.	.	.	.	T	0.57036	0.2026	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48681	-0.9014	4	.	.	.	.	9.2609	0.37612	0.6503:0.0:0.3497:0.0	.	.	.	.	R	368	.	.	C	-	1	0	ASAP1	131200070	1.000000	0.71417	0.935000	0.37517	0.941000	0.58515	1.649000	0.37281	-0.075000	0.12798	-0.261000	0.10672	TGT	.		0.333	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482	
ASB16	92591	hgsc.bcm.edu;bcgsc.ca	37	17	42255627	42255627	+	Silent	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr17:42255627C>T	ENST00000293414.1	+	5	1315	c.1231C>T	c.(1231-1233)Ctg>Ttg	p.L411L	ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000592897.1_RNA|ASB16-AS1_ENST00000585457.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	411	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCCAAGGCAGCTGCAGCACCT	0.652																																					p.L411L		.											.	ASB16	227	0			c.C1231T						.						45.0	38.0	40.0					17																	42255627		2203	4300	6503	SO:0001819	synonymous_variant	92591	exon5			AGGCAGCTGCAGC	AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"""Ankyrin repeat domain containing"""	19768	protein-coding gene	gene with protein product		615056	"""ankyrin repeat and SOCS box-containing 16"""			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.1231C>T	17.37:g.42255627C>T		77.0	0.0		54.0	4.0	NM_080863	B2RBC0|Q8WXK0	Silent	SNP	ENST00000293414.1	37	CCDS11478.1																																																																																			.		0.652	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1		
ATG2A	23130	hgsc.bcm.edu;bcgsc.ca	37	11	64681337	64681337	+	Silent	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr11:64681337C>T	ENST00000377264.3	-	4	658	c.546G>A	c.(544-546)ccG>ccA	p.P182P	ATG2A_ENST00000421419.2_Silent_p.P182P	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	182					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CCCCATCACCCGGAGAGTGCT	0.617																																					p.P182P		.											.	ATG2A	69	0			c.G546A						.						116.0	98.0	104.0					11																	64681337		2201	4297	6498	SO:0001819	synonymous_variant	23130	exon4			ATCACCCGGAGAG		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.546G>A	11.37:g.64681337C>T		143.0	0.0		79.0	4.0	NM_015104	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	CCDS31602.1																																																																																			.		0.617	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104	
ATP8B4	79895	hgsc.bcm.edu;bcgsc.ca	37	15	50190396	50190396	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr15:50190396A>G	ENST00000284509.6	-	22	2483	c.2342T>C	c.(2341-2343)aTg>aCg	p.M781T	ATP8B4_ENST00000559829.1_Missense_Mutation_p.M781T	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	781						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AGTCTTACACATGCAAGCAAG	0.403																																					p.M781T		.											.	ATP8B4	140	0			c.T2342C						.						131.0	116.0	121.0					15																	50190396		2196	4294	6490	SO:0001583	missense	79895	exon22			TTACACATGCAAG	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.2342T>C	15.37:g.50190396A>G	ENSP00000284509:p.Met781Thr	129.0	0.0		150.0	6.0	NM_024837	Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	A	9.964	1.223493	0.22457	.	.	ENSG00000104043	ENST00000284509	D	0.82344	-1.6	5.92	5.92	0.95590	HAD-like domain (1);	0.325157	0.35407	N	0.003227	T	0.78065	0.4225	L	0.33624	1.015	0.34704	D	0.727	B;B	0.33940	0.38;0.433	B;B	0.40901	0.343;0.297	T	0.79077	-0.1951	10	0.15066	T	0.55	.	14.3151	0.66443	1.0:0.0:0.0:0.0	.	1;781	B3KVY8;Q8TF62	.;AT8B4_HUMAN	T	781	ENSP00000284509:M781T	ENSP00000284509:M781T	M	-	2	0	ATP8B4	47977688	0.001000	0.12720	1.000000	0.80357	0.992000	0.81027	0.871000	0.28023	2.266000	0.75297	0.533000	0.62120	ATG	.		0.403	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837	
AXIN1	8312	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	364562	364563	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	AC	AC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr16:364562_364563delAC	ENST00000262320.3	-	3	1370_1371	c.999_1000delGT	c.(997-1002)ctgtccfs	p.S334fs	AXIN1_ENST00000481769.1_5'UTR|AXIN1_ENST00000354866.3_Frame_Shift_Del_p.S334fs	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	334	Interaction with TP53. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)	p.T336fs*17(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				TCCGTGAGGGACAGGGTGTCTG	0.614																																					p.333_334del		.											.	AXIN1	684	1	Insertion - Frameshift(1)	liver(1)	c.999_1000del						.																																			SO:0001589	frameshift_variant	8312	exon3			TGAGGGACAGGGT	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.999_1000delGT	16.37:g.364562_364563delAC	ENSP00000262320:p.Ser334fs	135.0	0.0		53.0	23.0	NM_181050	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Frame_Shift_Del	DEL	ENST00000262320.3	37	CCDS10405.1																																																																																			.		0.614	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3		
AXIN1	8312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	396448	396448	+	Missense_Mutation	SNP	A	A	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr16:396448A>T	ENST00000262320.3	-	2	949	c.578T>A	c.(577-579)aTg>aAg	p.M193K	AXIN1_ENST00000481769.1_Intron|AXIN1_ENST00000354866.3_Missense_Mutation_p.M193K	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	193	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GTTTTCCTCCATAGTGGCCTG	0.502											OREG0003698	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.M193K		.											.	AXIN1	684	0			c.T578A						.						96.0	98.0	97.0					16																	396448		2203	4300	6503	SO:0001583	missense	8312	exon2			TCCTCCATAGTGG	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.578T>A	16.37:g.396448A>T	ENSP00000262320:p.Met193Lys	192.0	0.0	588	114.0	20.0	NM_181050	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	37	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.579039	0.86645	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	T;T	0.33865	1.39;1.39	5.39	5.39	0.77823	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.038095	0.85682	D	0.000000	T	0.68769	0.3037	H	0.94925	3.6	0.80722	D	1	D;D	0.63880	0.991;0.993	P;D	0.63488	0.861;0.915	T	0.79252	-0.1880	10	0.87932	D	0	-4.3395	15.431	0.75099	1.0:0.0:0.0:0.0	.	193;193	O15169-2;O15169	.;AXIN1_HUMAN	K	193	ENSP00000262320:M193K;ENSP00000346935:M193K	ENSP00000262320:M193K	M	-	2	0	AXIN1	336449	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.206000	0.95056	2.047000	0.60756	0.533000	0.62120	ATG	.		0.502	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3		
BAZ2A	11176	hgsc.bcm.edu;bcgsc.ca	37	12	56993526	56993526	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr12:56993526A>G	ENST00000551812.1	-	26	5331	c.5138T>C	c.(5137-5139)gTc>gCc	p.V1713A	BAZ2A_ENST00000379441.3_Missense_Mutation_p.V1683A|BAZ2A_ENST00000179765.5_Missense_Mutation_p.V1681A|BAZ2A_ENST00000549884.1_Missense_Mutation_p.V1711A|BAZ2A_ENST00000553222.1_5'Flank	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1713					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TCCTTCTGGGACAGCCTCCAT	0.483																																					p.V1713A		.											.	BAZ2A	22	0			c.T5138C						.						100.0	104.0	103.0					12																	56993526		2028	4187	6215	SO:0001583	missense	11176	exon26			TCTGGGACAGCCT	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.5138T>C	12.37:g.56993526A>G	ENSP00000446880:p.Val1713Ala	105.0	0.0		55.0	4.0	NM_013449	B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.497299	0.85069	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31	5.11	5.11	0.69529	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.071486	0.56097	D	0.000032	D	0.91971	0.7457	M	0.69248	2.105	0.58432	D	0.999997	D;D;D;D	0.71674	0.994;0.987;0.998;0.997	D;D;D;D	0.74023	0.954;0.958;0.982;0.941	D	0.91769	0.5426	10	0.45353	T	0.12	-15.8885	14.5836	0.68308	1.0:0.0:0.0:0.0	.	1711;1709;1713;1686	F8VU39;Q9UIF9-3;Q9UIF9;Q9UIF9-2	.;.;BAZ2A_HUMAN;.	A	1683;1681;1713;645;1711	ENSP00000368754:V1683A;ENSP00000179765:V1681A;ENSP00000446880:V1713A;ENSP00000448760:V645A;ENSP00000447941:V1711A	ENSP00000179765:V1681A	V	-	2	0	BAZ2A	55279793	0.986000	0.35501	1.000000	0.80357	0.997000	0.91878	8.500000	0.90498	2.223000	0.72356	0.533000	0.62120	GTC	.		0.483	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449	
BCOR	54880	hgsc.bcm.edu;bcgsc.ca	37	X	39913172	39913172	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chrX:39913172G>T	ENST00000378444.4	-	14	5171	c.4943C>A	c.(4942-4944)cCg>cAg	p.P1648Q	BCOR_ENST00000378455.4_Missense_Mutation_p.P1596Q|BCOR_ENST00000342274.4_Missense_Mutation_p.P1614Q|BCOR_ENST00000397354.3_Missense_Mutation_p.P1614Q|BCOR_ENST00000378463.1_Missense_Mutation_p.P491Q	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1648	Necessary and sufficient for interaction with PCGF1.				heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GTTATAACACGGTAAGAGGGG	0.468			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																														p.P1648Q		.		Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		.	BCOR	229	0			c.C4943A						.						47.0	41.0	43.0					X																	39913172		2202	4300	6502	SO:0001583	missense	54880	exon14			TAACACGGTAAGA	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.4943C>A	X.37:g.39913172G>T	ENSP00000367705:p.Pro1648Gln	135.0	0.0		86.0	4.0	NM_001123385	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140948	0.56936	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000442018	T;T;T;T;T;T;T	0.75260	-0.92;0.36;0.6;0.59;0.49;0.59;-0.83	5.85	5.85	0.93711	.	.	.	.	.	D	0.86356	0.5913	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.87140	0.2202	9	0.72032	D	0.01	-10.4304	19.0962	0.93253	0.0:0.0:1.0:0.0	.	1596;1648;1614	Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;BCOR_HUMAN;.	Q	518;491;1596;1614;1648;1614;321	ENSP00000408006:P518Q;ENSP00000367724:P491Q;ENSP00000367716:P1596Q;ENSP00000380512:P1614Q;ENSP00000367705:P1648Q;ENSP00000345923:P1614Q;ENSP00000387552:P321Q	ENSP00000345923:P1614Q	P	-	2	0	BCOR	39798116	1.000000	0.71417	0.092000	0.20876	0.024000	0.10985	9.476000	0.97823	2.459000	0.83118	0.600000	0.82982	CCG	.		0.468	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745	
C12orf4	57102	hgsc.bcm.edu;bcgsc.ca	37	12	4600397	4600397	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr12:4600397T>C	ENST00000261250.3	-	12	1531	c.1444A>G	c.(1444-1446)Atg>Gtg	p.M482V	C12orf4_ENST00000545746.1_Missense_Mutation_p.M482V	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	482										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		GGTATAGTCATTTCCTAAAAA	0.358																																					p.M482V		.											.	C12orf4	226	0			c.A1444G						.						137.0	124.0	128.0					12																	4600397		2203	4300	6503	SO:0001583	missense	57102	exon12			TAGTCATTTCCTA	AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.1444A>G	12.37:g.4600397T>C	ENSP00000261250:p.Met482Val	119.0	0.0		100.0	6.0	NM_020374	D3DUQ8|Q6MZH5	Missense_Mutation	SNP	ENST00000261250.3	37	CCDS8528.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.178888	0.78564	.	.	ENSG00000047621	ENST00000261250;ENST00000545746	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.76212	0.3956	M	0.84326	2.69	0.80722	D	1	P	0.51791	0.948	P	0.54499	0.754	T	0.81048	-0.1109	9	0.87932	D	0	.	15.5652	0.76287	0.0:0.0:0.0:1.0	.	482	Q9NQ89	CL004_HUMAN	V	482	.	ENSP00000261250:M482V	M	-	1	0	C12orf4	4470658	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.239000	0.78182	2.129000	0.65627	0.477000	0.44152	ATG	.		0.358	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398992.1	NM_020374	
BRAP	8315	hgsc.bcm.edu;bcgsc.ca	37	12	112098444	112098444	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr12:112098444G>A	ENST00000327551.6	-	7	982	c.842C>T	c.(841-843)cCa>cTa	p.P281L	BRAP_ENST00000539060.1_Missense_Mutation_p.P132L|BRAP_ENST00000419234.4_Missense_Mutation_p.P311L			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	205					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						TTCTTCTACTGGCTCGGGCGT	0.403																																					p.P311L	Pancreas(146;846 1904 7830 25130 26065)	.											.	BRAP	710	0			c.C932T						.						168.0	161.0	163.0					12																	112098444		2203	4300	6503	SO:0001583	missense	8315	exon7			TCTACTGGCTCGG	AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"""RING-type (C3HC4) zinc fingers"""	1099	protein-coding gene	gene with protein product	"""impedes mitogenic signal propagation"", ""galectin-2-binding protein"""	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.842C>T	12.37:g.112098444G>A	ENSP00000330813:p.Pro281Leu	172.0	0.0		121.0	5.0	NM_006768	B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	ENST00000327551.6	37		.	.	.	.	.	.	.	.	.	.	G	9.696	1.153209	0.21371	.	.	ENSG00000089234	ENST00000419234;ENST00000539060;ENST00000327551;ENST00000547043	T;T;T	0.28895	1.59;1.59;1.59	5.14	5.14	0.70334	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.39009	0.1062	N	0.17564	0.495	0.80722	D	1	D;D	0.71674	0.998;0.994	D;P	0.73708	0.981;0.795	T	0.15037	-1.0451	10	0.18276	T	0.48	-11.8702	18.9406	0.92604	0.0:0.0:1.0:0.0	.	132;311	B4DRM1;Q7Z569	.;BRAP_HUMAN	L	311;132;281;93	ENSP00000403524:P311L;ENSP00000441659:P132L;ENSP00000330813:P281L	ENSP00000330813:P281L	P	-	2	0	BRAP	110582827	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.251000	0.78297	2.551000	0.86045	0.563000	0.77884	CCA	.		0.403	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404994.2		
C16orf96	342346	hgsc.bcm.edu;bcgsc.ca	37	16	4626475	4626475	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr16:4626475A>G	ENST00000444310.4	+	5	1994	c.1994A>G	c.(1993-1995)cAg>cGg	p.Q665R		NM_001145011.1	NP_001138483.1			chromosome 16 open reading frame 96											NS(1)|breast(1)|endometrium(6)|kidney(1)|skin(3)	12						GCCCTGTCCCAGGCCATGGTG	0.552																																					p.Q665R		.											.	.	.	0			c.A1994G						.						32.0	33.0	33.0					16																	4626475		692	1591	2283	SO:0001583	missense	342346	exon5			TGTCCCAGGCCAT		CCDS53986.1	16p13.3	2012-10-10			ENSG00000205832	ENSG00000205832			40031	protein-coding gene	gene with protein product							Standard	NM_001145011		Approved		uc010uxn.2	A6NNT2	OTTHUMG00000176519	ENST00000444310.4:c.1994A>G	16.37:g.4626475A>G	ENSP00000415027:p.Gln665Arg	143.0	0.0		93.0	5.0	NM_001145011		Missense_Mutation	SNP	ENST00000444310.4	37	CCDS53986.1	.	.	.	.	.	.	.	.	.	.	A	15.13	2.741294	0.49151	.	.	ENSG00000205832	ENST00000444310	.	.	.	4.29	-2.37	0.06643	.	.	.	.	.	T	0.19046	0.0457	L	0.27053	0.805	0.09310	N	1	B	0.29432	0.244	B	0.31547	0.132	T	0.24584	-1.0156	8	0.28530	T	0.3	.	1.0857	0.01652	0.3259:0.3383:0.1889:0.1469	.	665	A6NNT2	CP096_HUMAN	R	665	.	ENSP00000415027:Q665R	Q	+	2	0	C16orf96	4566476	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	0.068000	0.14531	-0.454000	0.07066	0.260000	0.18958	CAG	.		0.552	C16orf96-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432384.1	NM_001145011	
C17orf78	284099	hgsc.bcm.edu;bcgsc.ca	37	17	35736083	35736083	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr17:35736083A>G	ENST00000300618.4	+	3	204	c.154A>G	c.(154-156)Aca>Gca	p.T52A	ACACA_ENST00000416895.1_Intron|C17orf78_ENST00000586700.1_Missense_Mutation_p.T52A|ACACA_ENST00000353139.5_Intron	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	52						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				AGAAACTCACACAGAAACCAA	0.418																																					p.T52A		.											.	.	.	0			c.A154G						.						63.0	64.0	63.0					17																	35736083		1851	4087	5938	SO:0001583	missense	284099	exon3			ACTCACACAGAAA	BC034672	CCDS45655.1	17q12	2014-05-06			ENSG00000167230	ENSG00000278505			26831	protein-coding gene	gene with protein product						14702039	Standard	NM_173625		Approved	FLJ39647	uc002hns.3	Q8N4C9	OTTHUMG00000188467	ENST00000300618.4:c.154A>G	17.37:g.35736083A>G	ENSP00000300618:p.Thr52Ala	99.0	0.0		85.0	4.0	NM_173625	Q8N8D2	Missense_Mutation	SNP	ENST00000300618.4	37	CCDS45655.1	.	.	.	.	.	.	.	.	.	.	A	1.738	-0.492534	0.04322	.	.	ENSG00000167230	ENST00000300618;ENST00000321564	T	0.43294	0.95	4.27	2.16	0.27623	.	0.518519	0.16062	N	0.231453	T	0.14960	0.0361	N	0.05124	-0.11	0.23739	N	0.996977	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.31166	-0.9953	10	0.02654	T	1	-3.002	3.9095	0.09197	0.5801:0.0:0.4199:0.0	.	52;52	Q8N4C9-2;Q8N4C9	.;CQ078_HUMAN	A	52	ENSP00000300618:T52A	ENSP00000300618:T52A	T	+	1	0	C17orf78	32810196	0.569000	0.26643	0.998000	0.56505	0.977000	0.68977	0.838000	0.27572	0.298000	0.22638	0.482000	0.46254	ACA	.		0.418	C17orf78-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451570.2	NM_173625	
C6	729	hgsc.bcm.edu;bcgsc.ca	37	5	41186295	41186295	+	Silent	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr5:41186295T>C	ENST00000263413.3	-	6	867	c.603A>G	c.(601-603)gcA>gcG	p.A201A	C6_ENST00000475349.1_Intron|C6_ENST00000337836.5_Silent_p.A201A	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	201	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGGGCTCTCCTGCCAGAAAAT	0.373																																					p.A201A		.											.	C6	95	0			c.A603G						.						68.0	67.0	68.0					5																	41186295		2203	4300	6503	SO:0001819	synonymous_variant	729	exon6			CTCTCCTGCCAGA	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.603A>G	5.37:g.41186295T>C		174.0	0.0		97.0	4.0	NM_001115131		Silent	SNP	ENST00000263413.3	37	CCDS3936.1																																																																																			.		0.373	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1		
C6orf58	352999	hgsc.bcm.edu;bcgsc.ca	37	6	127902353	127902353	+	Silent	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr6:127902353T>C	ENST00000329722.7	+	4	612	c.600T>C	c.(598-600)ttT>ttC	p.F200F		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	200						extracellular vesicular exosome (GO:0070062)				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		TTAGTAAGTTTGATGATCTGT	0.328																																					p.F200F		.											.	C6orf58	90	0			c.T600C						.						108.0	104.0	105.0					6																	127902353		2203	4295	6498	SO:0001819	synonymous_variant	352999	exon4			TAAGTTTGATGAT	BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530			20960	protein-coding gene	gene with protein product							Standard	NM_001010905		Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	ENST00000329722.7:c.600T>C	6.37:g.127902353T>C		128.0	0.0		89.0	4.0	NM_001010905	B4E1I0|Q5VUP2	Silent	SNP	ENST00000329722.7	37	CCDS34533.1																																																																																			.		0.328	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042152.1	NM_001010905	
C8orf58	541565	hgsc.bcm.edu;bcgsc.ca	37	8	22458617	22458617	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr8:22458617A>G	ENST00000289989.5	+	2	337	c.263A>G	c.(262-264)cAg>cGg	p.Q88R	C8orf58_ENST00000409586.3_Missense_Mutation_p.Q88R|C8orf58_ENST00000453427.2_3'UTR			Q8NAV2	CH058_HUMAN	chromosome 8 open reading frame 58	88										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GGCCTTTCTCAGGACTCCCTG	0.652																																					p.Q88R		.											.	C8orf58	91	0			c.A263G						.						25.0	30.0	28.0					8																	22458617		2193	4297	6490	SO:0001583	missense	541565	exon2			TTTCTCAGGACTC	BC012750	CCDS34862.1, CCDS56527.1, CCDS75708.1	8p21.3	2010-08-17			ENSG00000241852	ENSG00000241852			32233	protein-coding gene	gene with protein product							Standard	NM_001013842		Approved	FLJ34715	uc003xce.3	Q8NAV2	OTTHUMG00000154160	ENST00000289989.5:c.263A>G	8.37:g.22458617A>G	ENSP00000289989:p.Gln88Arg	93.0	0.0		36.0	4.0	NM_001013842	B4DI44	Missense_Mutation	SNP	ENST00000289989.5	37	CCDS34862.1	.	.	.	.	.	.	.	.	.	.	a	17.97	3.518831	0.64634	.	.	ENSG00000248235;ENSG00000241852;ENSG00000241852;ENSG00000241852	ENST00000450780;ENST00000409586;ENST00000289989;ENST00000381191	.	.	.	4.1	-0.126	0.13515	.	0.364625	0.19601	N	0.110389	T	0.52256	0.1723	M	0.68317	2.08	0.26117	N	0.980603	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.80764	0.994;0.994;0.994	T	0.38972	-0.9636	9	0.72032	D	0.01	-7.5099	2.9471	0.05849	0.5033:0.0:0.1114:0.3853	.	88;16;88	Q8NAV2-2;E7EQH9;Q8NAV2	.;.;CH058_HUMAN	R	157;88;88;16	.	ENSP00000399696:Q157R	Q	+	2	0	AC037459.4;C8orf58	22514562	0.939000	0.31865	0.997000	0.53966	0.880000	0.50808	1.026000	0.30103	0.205000	0.20568	0.368000	0.22195	CAG	.		0.652	C8orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334183.1	NM_001013842	
CCDC25	55246	hgsc.bcm.edu;bcgsc.ca	37	8	27605739	27605739	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr8:27605739T>C	ENST00000356537.4	-	7	499	c.406A>G	c.(406-408)Acc>Gcc	p.T136A	RP11-16P20.3_ENST00000521510.1_RNA|CCDC25_ENST00000522915.1_Missense_Mutation_p.T68A|CCDC25_ENST00000539095.1_Missense_Mutation_p.T68A	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	136						extracellular vesicular exosome (GO:0070062)		p.T136P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		TCGACTTTGGTCTTTTCTAAT	0.388																																					p.T136A		.											.	CCDC25	90	1	Substitution - Missense(1)	kidney(1)	c.A406G						.						122.0	118.0	119.0					8																	27605739		2203	4300	6503	SO:0001583	missense	55246	exon7			CTTTGGTCTTTTC	AK001715	CCDS6062.2	8p21.1	2006-09-20			ENSG00000147419	ENSG00000147419			25591	protein-coding gene	gene with protein product						12477932	Standard	NM_018246		Approved	FLJ10853	uc003xgc.3	Q86WR0	OTTHUMG00000132173	ENST00000356537.4:c.406A>G	8.37:g.27605739T>C	ENSP00000348933:p.Thr136Ala	249.0	0.0		110.0	5.0	NM_018246	Q0P663|Q96SI2|Q9NV98	Missense_Mutation	SNP	ENST00000356537.4	37	CCDS6062.2	.	.	.	.	.	.	.	.	.	.	T	19.67	3.871617	0.72065	.	.	ENSG00000147419	ENST00000356537;ENST00000539095;ENST00000522915	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.68063	0.2960	M	0.93016	3.37	0.80722	D	1	P	0.41393	0.748	B	0.33339	0.162	T	0.77474	-0.2574	9	0.87932	D	0	-8.3639	13.7503	0.62904	0.0:0.0:0.0:1.0	.	136	Q86WR0	CCD25_HUMAN	A	136;68;68	.	ENSP00000348933:T136A	T	-	1	0	CCDC25	27661658	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.850000	0.75420	2.132000	0.65825	0.533000	0.62120	ACC	.		0.388	CCDC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255224.1	NM_018246	
CALB1	793	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	91072909	91072909	+	Missense_Mutation	SNP	T	T	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr8:91072909T>G	ENST00000265431.3	-	10	801	c.620A>C	c.(619-621)gAt>gCt	p.D207A	CALB1_ENST00000518457.1_Missense_Mutation_p.D150A	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	207	EF-hand 5. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to organic substance (GO:0071310)|cytosolic calcium ion homeostasis (GO:0051480)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|metanephric collecting duct development (GO:0072205)|metanephric connecting tubule development (GO:0072286)|metanephric distal convoluted tubule development (GO:0072221)|metanephric part of ureteric bud development (GO:0035502)|regulation of synaptic plasticity (GO:0048167)|retina layer formation (GO:0010842)|short-term memory (GO:0007614)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|vitamin D binding (GO:0005499)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TTCATTTTCATCTATGTATCC	0.383																																					p.D207A	Melanoma(46;573 1182 27367 39727 48386)	.											.	CALB1	91	0			c.A620C						.						199.0	195.0	196.0					8																	91072909		2203	4300	6503	SO:0001583	missense	793	exon10			TTTTCATCTATGT		CCDS6251.1	8q21.3	2013-01-10	2002-08-29		ENSG00000104327	ENSG00000104327		"""EF-hand domain containing"""	1434	protein-coding gene	gene with protein product		114050		CALB			Standard	NM_004929		Approved		uc003yel.1	P05937	OTTHUMG00000134314	ENST00000265431.3:c.620A>C	8.37:g.91072909T>G	ENSP00000265431:p.Asp207Ala	105.0	0.0		137.0	40.0	NM_004929	B2R696|B7Z9J4	Missense_Mutation	SNP	ENST00000265431.3	37	CCDS6251.1	.	.	.	.	.	.	.	.	.	.	T	18.34	3.601966	0.66445	.	.	ENSG00000104327	ENST00000265431;ENST00000518457	T;T	0.73681	-0.77;-0.77	5.8	5.8	0.92144	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.83714	0.5314	L	0.55213	1.73	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.85133	0.0976	10	0.72032	D	0.01	-21.197	16.1606	0.81704	0.0:0.0:0.0:1.0	.	207	P05937	CALB1_HUMAN	A	207;150	ENSP00000265431:D207A;ENSP00000429602:D150A	ENSP00000265431:D207A	D	-	2	0	CALB1	91142085	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.948000	0.75965	2.227000	0.72691	0.460000	0.39030	GAT	.		0.383	CALB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259338.2	NM_004929	
CCDC88C	440193	broad.mit.edu;bcgsc.ca	37	14	91739338	91739338	+	Silent	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr14:91739338G>T	ENST00000389857.6	-	30	5804	c.5718C>A	c.(5716-5718)ccC>ccA	p.P1906P	CCDC88C_ENST00000331194.7_Silent_p.P430P	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1906					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGGCAATGGCGGGGGCTGTGG	0.697																																					p.P1906P		.											.	CCDC88C	25	0			c.C5718A						.						3.0	4.0	3.0					14																	91739338		1529	3368	4897	SO:0001819	synonymous_variant	440193	exon30			AATGGCGGGGGCT		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.5718C>A	14.37:g.91739338G>T		80.0	1.0		31.0	4.0	NM_001080414	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Silent	SNP	ENST00000389857.6	37	CCDS45151.1																																																																																			.		0.697	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353	
CD6	923	hgsc.bcm.edu;bcgsc.ca	37	11	60785418	60785418	+	Silent	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr11:60785418A>G	ENST00000313421.7	+	11	1956	c.1770A>G	c.(1768-1770)tcA>tcG	p.S590S	CD6_ENST00000352009.5_Silent_p.S558S|CD6_ENST00000346437.4_Silent_p.S517S|CD6_ENST00000344028.5_Silent_p.S558S|CD6_ENST00000452451.2_Silent_p.S549S	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	590					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						TGTTTTCTTCAGAGAGGAGTT	0.577																																					p.S590S	Pancreas(169;904 2017 4767 38890 42505)	.											.	CD6	227	0			c.A1770G						.						59.0	63.0	62.0					11																	60785418		2203	4299	6502	SO:0001819	synonymous_variant	923	exon11			TTCTTCAGAGAGG		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"""CD molecules"""	1691	protein-coding gene	gene with protein product		186720	"""CD6 antigen"""			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.1770A>G	11.37:g.60785418A>G		81.0	0.0		58.0	4.0	NM_006725	A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Silent	SNP	ENST00000313421.7	37	CCDS7999.1																																																																																			.		0.577	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725	
CDCP2	200008	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	54618517	54618517	+	Splice_Site	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr1:54618517C>T	ENST00000371330.1	-	1	926	c.79G>A	c.(79-81)Ggt>Agt	p.G27S	RP11-446E24.4_ENST00000311841.7_3'UTR|RP11-446E24.4_ENST00000525949.1_Intron	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	27						extracellular region (GO:0005576)				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GAGTGCCTACCTTCCATGGCT	0.627																																					p.G27S		.											.	CDCP2	69	0			c.G79A						.						81.0	85.0	84.0					1																	54618517		2203	4300	6503	SO:0001630	splice_region_variant	200008	exon1			GCCTACCTTCCAT		CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.79+1G>A	1.37:g.54618517C>T		216.0	0.0		125.0	26.0	NM_201546	Q6ZWJ3	Missense_Mutation	SNP	ENST00000371330.1	37	CCDS588.2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080918	0.76528	.	.	ENSG00000157211	ENST00000371330	T	0.26957	1.7	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.27384	0.0672	N	0.17901	0.54	0.51767	D	0.999933	D	0.57899	0.981	P	0.53490	0.727	T	0.01591	-1.1317	9	.	.	.	-6.7344	15.5363	0.76004	0.0:1.0:0.0:0.0	.	27	Q5VXM1	CDCP2_HUMAN	S	27	ENSP00000360381:G27S	.	G	-	1	0	CDCP2	54391105	0.975000	0.34042	1.000000	0.80357	0.588000	0.36517	1.350000	0.34010	2.574000	0.86865	0.650000	0.86243	GGT	.		0.627	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546	Missense_Mutation
CGNL1	84952	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	57754012	57754012	+	Missense_Mutation	SNP	T	T	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr15:57754012T>G	ENST00000281282.5	+	8	2403	c.2325T>G	c.(2323-2325)gaT>gaG	p.D775E		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	775						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CCAGCCATGATCAGGAGATGG	0.532																																					p.D775E		.											.	CGNL1	100	0			c.T2325G						.						100.0	97.0	98.0					15																	57754012		2192	4292	6484	SO:0001583	missense	84952	exon9			CCATGATCAGGAG	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.2325T>G	15.37:g.57754012T>G	ENSP00000281282:p.Asp775Glu	136.0	0.0		89.0	21.0	NM_001252335	Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	T	18.62	3.663587	0.67700	.	.	ENSG00000128849	ENST00000281282	T	0.41065	1.01	5.52	1.63	0.23807	.	0.113301	0.39759	N	0.001278	T	0.41766	0.1173	M	0.79123	2.44	0.38341	D	0.94406	B	0.32731	0.382	B	0.31442	0.13	T	0.48091	-0.9065	10	0.46703	T	0.11	-27.512	11.03	0.47767	0.0:0.7455:0.0:0.2545	.	775	Q0VF96	CGNL1_HUMAN	E	775	ENSP00000281282:D775E	ENSP00000281282:D775E	D	+	3	2	CGNL1	55541304	0.993000	0.37304	1.000000	0.80357	0.687000	0.40016	0.335000	0.19806	0.509000	0.28195	0.368000	0.22195	GAT	.		0.532	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866	
CHD2	1106	hgsc.bcm.edu;bcgsc.ca	37	15	93522390	93522390	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr15:93522390A>G	ENST00000394196.4	+	22	3821	c.2753A>G	c.(2752-2754)aAg>aGg	p.K918R	CHD2_ENST00000557381.1_Missense_Mutation_p.K918R	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	918	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TTAGTTACAAAGGGGACTGTG	0.478																																					p.K918R		.											.	CHD2	229	0			c.A2753G						.						182.0	183.0	183.0					15																	93522390		2197	4298	6495	SO:0001583	missense	1106	exon22			TTACAAAGGGGAC	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.2753A>G	15.37:g.93522390A>G	ENSP00000377747:p.Lys918Arg	90.0	0.0		71.0	4.0	NM_001271	C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	A	13.70	2.314556	0.40996	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	D;D	0.96232	-3.95;-3.95	5.82	5.82	0.92795	Helicase, C-terminal (1);	0.000000	0.35677	U	0.003046	D	0.91429	0.7295	N	0.10972	0.075	0.80722	D	1	B;B;B	0.30664	0.083;0.005;0.289	B;B;B	0.36845	0.111;0.013;0.234	D	0.89958	0.4084	10	0.52906	T	0.07	-29.9084	10.5235	0.44934	0.9282:0.0:0.0718:0.0	.	918;918;918	A8K9Y5;O14647;O14647-2	.;CHD2_HUMAN;.	R	918	ENSP00000377747:K918R;ENSP00000451366:K918R	ENSP00000377747:K918R	K	+	2	0	CHD2	91323394	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.331000	0.72929	2.227000	0.72691	0.455000	0.32223	AAG	.		0.478	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271	
CHDC2	286464	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	36156116	36156116	+	Missense_Mutation	SNP	G	G	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chrX:36156116G>C	ENST00000313548.4	+	9	1273	c.1087G>C	c.(1087-1089)Gac>Cac	p.D363H		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	363	CH.					integral component of membrane (GO:0016021)											TTTTGACAAAGACCTTTCAGA	0.323																																					p.D363H		.											.	.	.	0			c.G1087C						.						89.0	78.0	82.0					X																	36156116		2202	4298	6500	SO:0001583	missense	286464	exon9			GACAAAGACCTTT	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.1087G>C	X.37:g.36156116G>C	ENSP00000324767:p.Asp363His	244.0	0.0		176.0	10.0	NM_173695		Missense_Mutation	SNP	ENST00000313548.4	37	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.453015	0.26161	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	D;D	0.96745	-4.11;-4.11	5.22	4.34	0.51931	Calponin homology domain (3);	0.093856	0.35585	N	0.003102	D	0.97402	0.9150	M	0.76002	2.32	0.23712	N	0.997049	D	0.65815	0.995	P	0.61397	0.888	D	0.93320	0.6692	10	0.87932	D	0	-6.8663	14.0852	0.64951	0.0:0.1475:0.8525:0.0	.	363	Q8N9S7	CX059_HUMAN	H	363	ENSP00000367929:D363H;ENSP00000324767:D363H	ENSP00000324767:D363H	D	+	1	0	CXorf59	36066037	1.000000	0.71417	0.034000	0.17996	0.068000	0.16541	5.232000	0.65332	0.989000	0.38761	0.529000	0.55759	GAC	.		0.323	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695	
CHIT1	1118	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	203186123	203186123	+	Missense_Mutation	SNP	C	C	T	rs202003206		TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr1:203186123C>T	ENST00000367229.1	-	11	1329	c.1295G>A	c.(1294-1296)cGg>cAg	p.R432Q	CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000255427.3_Missense_Mutation_p.R413Q|CHIT1_ENST00000535569.1_Missense_Mutation_p.R423Q	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	432	Chitin-binding type-2. {ECO:0000255|PROSITE-ProRule:PRU00144}.				chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)	p.R432Q(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GGACCGTTCCCGAGGATTGGG	0.602											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0	5008	,	,		18789	0.001		0.0	False		,,,				2504	0.0				p.R432Q		.											.	CHIT1	90	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.G1295A						.						98.0	101.0	100.0					1																	203186123		2203	4300	6503	SO:0001583	missense	1118	exon11			CGTTCCCGAGGAT	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.1295G>A	1.37:g.203186123C>T	ENSP00000356198:p.Arg432Gln	42.0	0.0	2135	28.0	9.0	NM_003465	B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	CCDS1436.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	2.092	-0.408161	0.04832	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.29655	1.56;1.56;1.56	4.95	-9.9	0.00461	Chitin binding domain (5);	3.388700	0.00868	N	0.001985	T	0.09686	0.0238	N	0.03983	-0.305	0.09310	N	1	B;B;B	0.13145	0.001;0.007;0.002	B;B;B	0.06405	0.001;0.001;0.002	T	0.14924	-1.0455	10	0.13470	T	0.59	-9.276	3.8643	0.09010	0.192:0.5452:0.0924:0.1703	.	403;423;432	Q13231-3;G5EA51;Q13231	.;.;CHIT1_HUMAN	Q	432;413;423	ENSP00000356198:R432Q;ENSP00000255427:R413Q;ENSP00000438078:R423Q	ENSP00000255427:R413Q	R	-	2	0	CHIT1	201452746	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-3.461000	0.00463	-2.215000	0.00733	-0.355000	0.07637	CGG	C|0.999;T|0.000		0.602	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465	
CLASP2	23122	hgsc.bcm.edu;bcgsc.ca	37	3	33759302	33759302	+	Silent	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr3:33759302G>T	ENST00000468888.2	-	1	239	c.193C>A	c.(193-195)Cgg>Agg	p.R65R	CLASP2_ENST00000307312.7_5'UTR|CLASP2_ENST00000399362.4_Silent_p.R65R|CLASP2_ENST00000359576.5_Silent_p.R65R			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	1117					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TCGCTTACCCGGTAGTTGCTC	0.716																																					p.R65R		.											.	CLASP2	93	0			c.C193A						.						8.0	12.0	11.0					3																	33759302		1907	4067	5974	SO:0001819	synonymous_variant	23122	exon1			TTACCCGGTAGTT	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.193C>A	3.37:g.33759302G>T		113.0	0.0		86.0	5.0	NM_015097	Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Silent	SNP	ENST00000468888.2	37																																																																																				.		0.716	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044	
CMTM4	146223	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	66651253	66651253	+	Missense_Mutation	SNP	T	T	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr16:66651253T>A	ENST00000330687.4	-	5	813	c.632A>T	c.(631-633)tAc>tTc	p.Y211F		NM_178818.2|NM_181521.2	NP_848933.1|NP_852662.1	Q8IZR5	CKLF4_HUMAN	CKLF-like MARVEL transmembrane domain containing 4	211					chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214)		GTTTGTGGAGTAGGAAAAACT	0.363																																					p.Y211F		.											.	CMTM4	227	0			c.A632T						.						82.0	76.0	78.0					16																	66651253		2200	4300	6500	SO:0001583	missense	146223	exon5			GTGGAGTAGGAAA	AF479814	CCDS10817.1, CCDS42170.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000183723	ENSG00000183723			19175	protein-coding gene	gene with protein product		607887	"""chemokine-like factor super family 4"", ""chemokine-like factor superfamily 4"""	CKLFSF4		12782130	Standard	NM_178818		Approved		uc002epz.3	Q8IZR5	OTTHUMG00000137500	ENST00000330687.4:c.632A>T	16.37:g.66651253T>A	ENSP00000333833:p.Tyr211Phe	405.0	1.0		287.0	98.0	NM_178818	Q52M40|Q8IZR4|Q8IZV1	Missense_Mutation	SNP	ENST00000330687.4	37	CCDS10817.1	.	.	.	.	.	.	.	.	.	.	T	7.873	0.728630	0.15507	.	.	ENSG00000183723	ENST00000330687	T	0.23147	1.92	4.01	4.01	0.46588	.	0.712591	0.12721	N	0.444676	T	0.10165	0.0249	N	0.03608	-0.345	0.35073	D	0.762639	D	0.53885	0.963	B	0.41088	0.347	T	0.03898	-1.0994	10	0.09084	T	0.74	.	9.5874	0.39526	0.0:0.0:0.0:1.0	.	211	Q8IZR5	CKLF4_HUMAN	F	211	ENSP00000333833:Y211F	ENSP00000333833:Y211F	Y	-	2	0	CMTM4	65208754	0.256000	0.24012	0.005000	0.12908	0.003000	0.03518	2.529000	0.45632	2.031000	0.59945	0.459000	0.35465	TAC	.		0.363	CMTM4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268807.1		
COG6	57511	broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	40293426	40293426	+	Silent	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr13:40293426C>T	ENST00000455146.3	+	14	1388	c.1338C>T	c.(1336-1338)ctC>ctT	p.L446L	COG6_ENST00000416691.1_Silent_p.L446L	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	446					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		ATCAGACACTCATGTTGCTGC	0.378																																					p.L446L		.											.	COG6	227	0			c.C1338T						.						128.0	113.0	118.0					13																	40293426		2203	4300	6503	SO:0001819	synonymous_variant	57511	exon14			GACACTCATGTTG	AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"""Components of oligomeric golgi complex"""	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.1338C>T	13.37:g.40293426C>T		230.0	1.0		151.0	25.0	NM_001145079	Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Silent	SNP	ENST00000455146.3	37	CCDS9370.1																																																																																			.		0.378	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3		
COL5A1	1289	hgsc.bcm.edu;bcgsc.ca	37	9	137716488	137716488	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr9:137716488T>C	ENST00000371817.3	+	62	5155	c.4741T>C	c.(4741-4743)Tcc>Ccc	p.S1581P		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1581	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AATCCAGGCATCCAGGACGCG	0.647																																					p.S1581P		.											.	COL5A1	524	0			c.T4741C						.						47.0	42.0	44.0					9																	137716488		2203	4300	6503	SO:0001583	missense	1289	exon62			CAGGCATCCAGGA	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4741T>C	9.37:g.137716488T>C	ENSP00000360882:p.Ser1581Pro	168.0	0.0		96.0	6.0	NM_000093	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	T	10.22	1.290693	0.23564	.	.	ENSG00000130635	ENST00000371817;ENST00000355306	D	0.89810	-2.57	4.21	4.21	0.49690	.	0.440276	0.21317	U	0.076538	T	0.79992	0.4542	L	0.27944	0.81	0.34759	D	0.732579	B	0.06786	0.001	B	0.08055	0.003	T	0.76438	-0.2959	10	0.14252	T	0.57	.	10.983	0.47506	0.0:0.0:0.156:0.844	.	1581	P20908	CO5A1_HUMAN	P	1581;118	ENSP00000360882:S1581P	ENSP00000347458:S118P	S	+	1	0	COL5A1	136856309	0.937000	0.31787	0.131000	0.22000	0.957000	0.61999	1.675000	0.37555	1.673000	0.50895	0.363000	0.22086	TCC	.		0.647	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	
COL7A1	1294	hgsc.bcm.edu;bcgsc.ca	37	3	48609831	48609831	+	Silent	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr3:48609831T>C	ENST00000328333.8	-	89	7067	c.6960A>G	c.(6958-6960)ggA>ggG	p.G2320G	COL7A1_ENST00000454817.1_Silent_p.G2288G	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2320	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCACCAGGTCTCCAGCAAGGC	0.607																																					p.G2320G		.											.	COL7A1	160	0			c.A6960G						.						84.0	89.0	87.0					3																	48609831		2203	4300	6503	SO:0001819	synonymous_variant	1294	exon89			CAGGTCTCCAGCA	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.6960A>G	3.37:g.48609831T>C		184.0	0.0		153.0	7.0	NM_000094	Q14054|Q16507	Silent	SNP	ENST00000328333.8	37	CCDS2773.1																																																																																			.		0.607	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	
CSMD1	64478	hgsc.bcm.edu;bcgsc.ca	37	8	2823315	2823315	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr8:2823315T>C	ENST00000520002.1	-	60	9820	c.9265A>G	c.(9265-9267)Agc>Ggc	p.S3089G	CSMD1_ENST00000537824.1_Missense_Mutation_p.S3088G|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.S3089G|CSMD1_ENST00000400186.3_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3089	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACAGGTTTGCTCGGATTCCAC	0.418																																					p.S3088G		.											.	CSMD1	86	0			c.A9262G						.						80.0	78.0	78.0					8																	2823315		1988	4181	6169	SO:0001583	missense	64478	exon59			GTTTGCTCGGATT			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9265A>G	8.37:g.2823315T>C	ENSP00000430733:p.Ser3089Gly	145.0	0.0		75.0	4.0	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.86|11.86	1.765752|1.765752	0.31228|0.31228	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000520002;ENST00000318252;ENST00000537824	.|T;T	.|0.66460	.|-0.21;-0.21	5.42|5.42	5.42|5.42	0.78866|0.78866	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.133108	.|0.50627	.|D	.|0.000113	T|T	0.65154|0.65154	0.2664|0.2664	L|L	0.56199|0.56199	1.76|1.76	0.80722|0.80722	D|D	1|1	.|B;B	.|0.21147	.|0.052;0.018	.|B;B	.|0.29176	.|0.055;0.099	T|T	0.61893|0.61893	-0.6969|-0.6969	5|10	.|0.37606	.|T	.|0.19	.|.	15.475|15.475	0.75471|0.75471	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|3089;3089	.|E5RIG2;Q96PZ7	.|.;CSMD1_HUMAN	G|G	2505|3089;2950;3088	.|ENSP00000430733:S3089G;ENSP00000441462:S3088G	.|ENSP00000320445:S2950G	E|S	-|-	2|1	0|0	CSMD1|CSMD1	2810722|2810722	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.027000|0.027000	0.11550|0.11550	4.845000|4.845000	0.62853|0.62853	2.056000|2.056000	0.61249|0.61249	0.533000|0.533000	0.62120|0.62120	GAG|AGC	.		0.418	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CTC1	80169	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	17	8133211	8133211	+	Silent	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr17:8133211G>T	ENST00000315684.8	-	18	3016	c.3009C>A	c.(3007-3009)atC>atA	p.I1003I		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	1003					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GCACTGACCTGATGGTGGTCT	0.483																																					p.I1003I		.											.	CTC1	93	0			c.C3009A						.						115.0	120.0	118.0					17																	8133211		1973	4147	6120	SO:0001819	synonymous_variant	80169	exon18			TGACCTGATGGTG	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.3009C>A	17.37:g.8133211G>T		97.0	0.0		43.0	4.0	NM_025099	B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Silent	SNP	ENST00000315684.8	37	CCDS42259.1																																																																																			.		0.483	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099	
CUX1	1523	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	101840082	101840082	+	Missense_Mutation	SNP	C	C	A	rs569218052		TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr7:101840082C>A	ENST00000292535.7	+	15	1429	c.1391C>A	c.(1390-1392)tCc>tAc	p.S464Y	CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.S464Y|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.S475Y|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Intron|SNORA48_ENST00000517015.1_RNA|CUX1_ENST00000550008.2_Missense_Mutation_p.S464Y	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	464					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TTCAGCTCATCCCTGGCAAGC	0.532													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16575	0.0		0.0	False		,,,				2504	0.0				p.S475Y		.											.	CUX1	160	0			c.C1424A						.						70.0	73.0	72.0					7																	101840082		2203	4300	6503	SO:0001583	missense	1523	exon15			GCTCATCCCTGGC	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.1391C>A	7.37:g.101840082C>A	ENSP00000292535:p.Ser464Tyr	174.0	0.0		138.0	44.0	NM_001202543	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476486	0.44044	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008	T;T;T;T	0.60797	0.18;0.17;0.16;0.17	5.71	4.8	0.61643	.	0.294006	0.28635	N	0.014644	T	0.52500	0.1738	N	0.22421	0.69	0.80722	D	1	P;P	0.42649	0.681;0.786	B;P	0.47251	0.254;0.542	T	0.53012	-0.8498	10	0.40728	T	0.16	-6.8901	15.6421	0.77012	0.1423:0.8577:0.0:0.0	.	464;475	P39880;P39880-3	CUX1_HUMAN;.	Y	475;464;464;464	ENSP00000353401:S475Y;ENSP00000292535:S464Y;ENSP00000446630:S464Y;ENSP00000447373:S464Y	ENSP00000292535:S464Y	S	+	2	0	CUX1	101626802	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.111000	0.50360	1.350000	0.45770	0.561000	0.74099	TCC	.		0.532	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913	
CUL1	8454	hgsc.bcm.edu;bcgsc.ca	37	7	148451110	148451110	+	Silent	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr7:148451110A>G	ENST00000325222.4	+	3	462	c.183A>G	c.(181-183)caA>caG	p.Q61Q	CUL1_ENST00000409469.1_Silent_p.Q61Q|CUL1_ENST00000602748.1_Silent_p.Q61Q	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	61				Missing (in Ref. 1; AAC50544). {ECO:0000305}.	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AGTCAAACCAAGCACGAGGAG	0.413																																					p.Q61Q		.											.	CUL1	226	0			c.A183G						.						59.0	56.0	57.0					7																	148451110		2203	4300	6503	SO:0001819	synonymous_variant	8454	exon3			AAACCAAGCACGA	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.183A>G	7.37:g.148451110A>G		100.0	0.0		93.0	5.0	NM_003592	D3DWG3|O60719|Q08AL6|Q8IYW1	Silent	SNP	ENST00000325222.4	37	CCDS34772.1																																																																																			.		0.413	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592	
DCTN1	1639	hgsc.bcm.edu;bcgsc.ca	37	2	74590545	74590545	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr2:74590545G>A	ENST00000361874.3	-	28	3538	c.3221C>T	c.(3220-3222)cCt>cTt	p.P1074L	DCTN1_ENST00000409438.1_Missense_Mutation_p.P935L|RP11-287D1.3_ENST00000451608.2_5'Flank|DCTN1_ENST00000394003.3_Missense_Mutation_p.P1067L|DCTN1_ENST00000409240.1_Missense_Mutation_p.P1032L|DCTN1_ENST00000409567.3_Missense_Mutation_p.P1049L|DCTN1_ENST00000409868.1_Missense_Mutation_p.P1052L|DCTN1_ENST00000407639.2_Missense_Mutation_p.P940L|DCTN1_ENST00000495643.1_5'Flank	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	1074					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						AGCCTGCCCAGGGATGGCTCC	0.577																																					p.P1074L		.											.	DCTN1	95	0			c.C3221T						.						19.0	19.0	19.0					2																	74590545		2202	4300	6502	SO:0001583	missense	1639	exon28			TGCCCAGGGATGG		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.3221C>T	2.37:g.74590545G>A	ENSP00000354791:p.Pro1074Leu	64.0	0.0		50.0	4.0	NM_004082	A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	G	4.597	0.110890	0.08831	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.78481	-0.78;-0.96;-0.78;-0.78;-1.18;-0.96;-0.96	4.72	4.72	0.59763	.	0.192725	0.25683	N	0.028992	T	0.60856	0.2301	N	0.05230	-0.09	0.21445	N	0.999685	B;B;B;B;B;B;B	0.12013	0.001;0.0;0.003;0.0;0.0;0.005;0.0	B;B;B;B;B;B;B	0.19391	0.001;0.0;0.011;0.003;0.0;0.025;0.0	T	0.50775	-0.8788	10	0.32370	T	0.25	-3.8028	16.6006	0.84815	0.0:0.0:1.0:0.0	.	1049;1032;1074;1067;940;935;1057	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4;A8MWX9	.;.;DCTN1_HUMAN;.;.;.;.	L	1074;1067;1057;940;935;1032;1052;1049	ENSP00000354791:P1074L;ENSP00000377571:P1067L;ENSP00000384844:P940L;ENSP00000387270:P935L;ENSP00000386406:P1032L;ENSP00000387327:P1052L;ENSP00000386843:P1049L	ENSP00000354791:P1074L	P	-	2	0	DCTN1	74444053	0.404000	0.25328	0.669000	0.29828	0.678000	0.39670	2.786000	0.47790	2.424000	0.82194	0.643000	0.83706	CCT	.		0.577	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082	
DHRS4L1	728635	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	14	24507078	24507078	+	RNA	SNP	C	C	T	rs373705961		TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr14:24507078C>T	ENST00000558293.1	+	0	176					NR_102693.1																						GCATGACGGGCACTGTGTGCC	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		17195	0.0		0.001	False		,,,				2504	0.0				p.G85G		.											.	.	.	0			c.C255T						.	C		0,4406		0,0,2203	32.0	34.0	33.0		255	2.4	1.0	14		33	1,8599		0,1,4299	no	coding-synonymous	DHRS4L1	NM_001082488.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		85/282	24507078	1,13005	2203	4300	6503			728635	exon2			GACGGGCACTGTG																													14.37:g.24507078C>T		415.0	0.0		306.0	129.0	NM_001082488		Silent	SNP	ENST00000558293.1	37																																																																																				.		0.652	RP11-468E2.9-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417272.1		
DLEC1	9940	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	38080908	38080908	+	Silent	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr3:38080908C>T	ENST00000308059.6	+	1	213	c.192C>T	c.(190-192)cgC>cgT	p.R64R	DLEC1_ENST00000452631.2_Silent_p.R64R|DLEC1_ENST00000346219.3_Silent_p.R64R					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCCGGCCCCGCCGCCTCACGC	0.677																																					p.R64R		.											.	DLEC1	161	0			c.C192T						.						35.0	43.0	40.0					3																	38080908		1996	4174	6170	SO:0001819	synonymous_variant	9940	exon1			GCCCCGCCGCCTC	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.192C>T	3.37:g.38080908C>T		176.0	0.0		138.0	46.0	NM_007337		Silent	SNP	ENST00000308059.6	37	CCDS2672.2																																																																																			.		0.677	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337	
DMD	1756	hgsc.bcm.edu;bcgsc.ca	37	X	32328324	32328324	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chrX:32328324A>G	ENST00000357033.4	-	42	6198	c.5992T>C	c.(5992-5994)Tct>Cct	p.S1998P	DMD_ENST00000378677.2_Missense_Mutation_p.S1994P	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1998					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AAATAAGTAGAAGGCACATAA	0.388																																					p.S1998P		.											.	DMD	265	0			c.T5992C						.						116.0	95.0	102.0					X																	32328324		2202	4300	6502	SO:0001583	missense	1756	exon42			AAGTAGAAGGCAC	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5992T>C	X.37:g.32328324A>G	ENSP00000354923:p.Ser1998Pro	223.0	0.0		140.0	6.0	NM_004006	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.296552	0.81025	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.62639	0.01;0.01	6.16	6.16	0.99307	.	0.000000	0.37095	U	0.002258	T	0.76133	0.3945	L	0.61218	1.895	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.997;0.997;0.997;0.997	D;D;D;D;D	0.81914	0.991;0.995;0.995;0.995;0.995	T	0.76506	-0.2934	10	0.46703	T	0.11	.	14.25	0.66013	1.0:0.0:0.0:0.0	.	1990;1998;1994;657;654	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	P	1990;657;654;1994;1998;1998;1875	ENSP00000367948:S1994P;ENSP00000354923:S1998P	ENSP00000354923:S1998P	S	-	1	0	DMD	32238245	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.711000	0.74675	2.085000	0.62840	0.481000	0.45027	TCT	.		0.388	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
DNAJC6	9829	hgsc.bcm.edu;bcgsc.ca	37	1	65867511	65867511	+	Silent	SNP	C	C	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr1:65867511C>A	ENST00000395325.3	+	15	2161	c.2004C>A	c.(2002-2004)acC>acA	p.T668T	DNAJC6_ENST00000371069.4_Silent_p.T725T|DNAJC6_ENST00000263441.7_Silent_p.T655T	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	668	Pro-rich.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						GTACTCCCACCCATCAAAGCA	0.448																																					p.T725T		.											.	DNAJC6	272	0			c.C2175A						.						96.0	96.0	96.0					1																	65867511		2203	4300	6503	SO:0001819	synonymous_variant	9829	exon15			TCCCACCCATCAA	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.2004C>A	1.37:g.65867511C>A		110.0	0.0		73.0	4.0	NM_001256864	B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Silent	SNP	ENST00000395325.3	37	CCDS30739.1																																																																																			.		0.448	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1		
DOCK9	23348	hgsc.bcm.edu;bcgsc.ca	37	13	99519792	99519792	+	Splice_Site	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr13:99519792T>C	ENST00000376460.1	-	30	3255		c.e30-2		DOCK9_ENST00000442173.1_Splice_Site|DOCK9_ENST00000448493.2_Splice_Site|DOCK9_ENST00000339416.2_Splice_Site	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9						blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AAAGAGGGTCTGCAGGAAGAA	0.358																																					.		.											.	DOCK9	90	0			c.3178-2A>G						.						140.0	131.0	134.0					13																	99519792		1830	4081	5911	SO:0001630	splice_region_variant	23348	exon31			AGGGTCTGCAGGA	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.3175-2A>G	13.37:g.99519792T>C		45.0	0.0		38.0	4.0	NM_015296	B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Splice_Site	SNP	ENST00000376460.1	37	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.605059	0.87157	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6438	0.85155	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DOCK9	98317793	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.625000	0.83145	2.333000	0.79357	0.533000	0.62120	.	.		0.358	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296	Intron
DPF2	5977	hgsc.bcm.edu;bcgsc.ca	37	11	65113180	65113180	+	Missense_Mutation	SNP	C	C	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr11:65113180C>G	ENST00000528416.1	+	7	814	c.681C>G	c.(679-681)caC>caG	p.H227Q	DPF2_ENST00000415073.2_Intron|DPF2_ENST00000252268.4_Missense_Mutation_p.H241Q|DPF2_ENST00000532264.1_3'UTR	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	227					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						TCAGTTACCACTATGCCCACT	0.522																																					p.H227Q		.											.	DPF2	91	0			c.C681G						.						86.0	77.0	80.0					11																	65113180		2201	4297	6498	SO:0001583	missense	5977	exon7			TTACCACTATGCC	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"""Zinc fingers, PHD-type"""	9964	protein-coding gene	gene with protein product		601671	"""requiem, apoptosis response zinc finger gene"""	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.681C>G	11.37:g.65113180C>G	ENSP00000436901:p.His227Gln	79.0	0.0		57.0	4.0	NM_006268	A8K7C9|B4DT58	Missense_Mutation	SNP	ENST00000528416.1	37	CCDS8100.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447906	0.63178	.	.	ENSG00000133884	ENST00000528416;ENST00000252268	D;D	0.94793	-3.52;-3.06	5.24	4.34	0.51931	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39834	N	0.001260	D	0.92984	0.7767	M	0.83774	2.66	0.48975	D	0.999737	P	0.37864	0.61	B	0.35550	0.205	D	0.91947	0.5568	10	0.59425	D	0.04	-32.7354	7.682	0.28520	0.0:0.8178:0.0:0.1822	.	227	Q92785	REQU_HUMAN	Q	227;241	ENSP00000436901:H227Q;ENSP00000252268:H241Q	ENSP00000252268:H241Q	H	+	3	2	DPF2	64869756	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.871000	0.39539	1.446000	0.47643	0.561000	0.74099	CAC	.		0.522	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268	
DSEL	92126	hgsc.bcm.edu;bcgsc.ca	37	18	65178261	65178261	+	Silent	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr18:65178261T>C	ENST00000310045.7	-	2	5088	c.3615A>G	c.(3613-3615)gaA>gaG	p.E1205E	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1195					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AGCAGATGTTTTCAATTAGTT	0.373																																					p.E1205E		.											.	DSEL	157	0			c.A3615G						.						104.0	101.0	102.0					18																	65178261		2203	4300	6503	SO:0001819	synonymous_variant	92126	exon2			GATGTTTTCAATT	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.3615A>G	18.37:g.65178261T>C		242.0	0.0		120.0	6.0	NM_032160	Q17RH1|Q6P5Z3	Silent	SNP	ENST00000310045.7	37	CCDS11995.1																																																																																			.		0.373	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160	
DYNC2H1	79659	hgsc.bcm.edu;bcgsc.ca	37	11	103058312	103058312	+	Silent	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr11:103058312A>G	ENST00000375735.2	+	43	7281	c.7137A>G	c.(7135-7137)caA>caG	p.Q2379Q	DYNC2H1_ENST00000398093.3_Silent_p.Q2379Q|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2379	AAA 3. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CATTCCTACAACAGGTAAGTC	0.328																																					p.Q2379Q		.											.	DYNC2H1	68	0			c.A7137G						.						66.0	60.0	62.0					11																	103058312		1835	4084	5919	SO:0001819	synonymous_variant	79659	exon43			CCTACAACAGGTA	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.7137A>G	11.37:g.103058312A>G		106.0	0.0		88.0	4.0	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	CCDS53701.1																																																																																			.		0.328	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
EDARADD	128178	hgsc.bcm.edu;bcgsc.ca	37	1	236645629	236645629	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr1:236645629C>T	ENST00000334232.4	+	6	495	c.328C>T	c.(328-330)Ccc>Tcc	p.P110S	EDARADD_ENST00000359362.5_Missense_Mutation_p.P100S	NM_145861.2	NP_665860.2	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	110					cell differentiation (GO:0030154)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	cytoplasm (GO:0005737)		p.P110T(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GCTCCGGGCCCCCACCATAAG	0.478																																					p.P110S		.											.	EDARADD	90	1	Substitution - Missense(1)	lung(1)	c.C328T						.						82.0	79.0	80.0					1																	236645629		2203	4300	6503	SO:0001583	missense	128178	exon6			CGGGCCCCCACCA	AY028914	CCDS1610.1, CCDS31065.1	1q42.3	2013-05-22			ENSG00000186197	ENSG00000186197			14341	protein-coding gene	gene with protein product		606603				11780064	Standard	NM_145861		Approved		uc001hxu.1	Q8WWZ3	OTTHUMG00000039954	ENST00000334232.4:c.328C>T	1.37:g.236645629C>T	ENSP00000335076:p.Pro110Ser	143.0	0.0		73.0	4.0	NM_145861	A2VCK5|A8K7B5|B1AL54|B9ZVW5|Q5VYJ7	Missense_Mutation	SNP	ENST00000334232.4	37	CCDS1610.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160516	0.57368	.	.	ENSG00000186197	ENST00000334232;ENST00000359362	T;D	0.82433	-1.04;-1.61	5.22	5.22	0.72569	.	0.000000	0.64402	U	0.000001	D	0.84678	0.5525	M	0.70275	2.135	0.52099	D	0.999943	P;P	0.42692	0.787;0.787	B;B	0.43251	0.322;0.413	D	0.84472	0.0600	9	.	.	.	.	18.9765	0.92738	0.0:1.0:0.0:0.0	.	100;110	A8K7B5;Q8WWZ3	.;EDAD_HUMAN	S	110;100	ENSP00000335076:P110S;ENSP00000352320:P100S	.	P	+	1	0	EDARADD	234712252	1.000000	0.71417	0.981000	0.43875	0.401000	0.30781	5.547000	0.67249	2.720000	0.93068	0.655000	0.94253	CCC	.		0.478	EDARADD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000096368.1	NM_145861	
EFNA5	1946	hgsc.bcm.edu;bcgsc.ca	37	5	106723416	106723416	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr5:106723416T>C	ENST00000333274.6	-	3	756	c.475A>G	c.(475-477)Aga>Gga	p.R159G	EFNA5_ENST00000509503.1_Missense_Mutation_p.R159G|EFNA5_ENST00000510359.1_5'UTR	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	159	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell-cell adhesion (GO:0022407)|regulation of focal adhesion assembly (GO:0051893)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rho GTPase activity (GO:0032319)|retinal ganglion cell axon guidance (GO:0031290)	anchored component of external side of plasma membrane (GO:0031362)|plasma membrane (GO:0005886)	chemorepellent activity (GO:0045499)|ephrin receptor binding (GO:0046875)			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		CTTGTTGGTCTCACAAAGACT	0.448																																					p.R159G		.											.	EFNA5	90	0			c.A475G						.						169.0	156.0	160.0					5																	106723416		2202	4300	6502	SO:0001583	missense	1946	exon3			TTGGTCTCACAAA	U26403	CCDS4097.1	5q21	2011-03-09			ENSG00000184349	ENSG00000184349		"""Ephrins"""	3225	protein-coding gene	gene with protein product		601535		EPLG7		8661153, 9245480	Standard	NM_001962		Approved	AF1, LERK7	uc003kol.3	P52803	OTTHUMG00000128741	ENST00000333274.6:c.475A>G	5.37:g.106723416T>C	ENSP00000328777:p.Arg159Gly	168.0	0.0		66.0	4.0	NM_001962		Missense_Mutation	SNP	ENST00000333274.6	37	CCDS4097.1	.	.	.	.	.	.	.	.	.	.	T	15.24	2.775925	0.49786	.	.	ENSG00000184349	ENST00000333274;ENST00000509503	D;D	0.93133	-3.17;-3.17	5.56	3.26	0.37387	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.91372	0.7278	M	0.80028	2.48	0.80722	D	1	P	0.35226	0.491	B	0.30646	0.118	D	0.88244	0.2912	10	0.18276	T	0.48	-13.5014	13.3692	0.60703	0.0:0.0:0.476:0.524	.	159	P52803	EFNA5_HUMAN	G	159	ENSP00000328777:R159G;ENSP00000426989:R159G	ENSP00000328777:R159G	R	-	1	2	EFNA5	106751315	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.711000	0.54868	0.932000	0.37266	0.533000	0.62120	AGA	.		0.448	EFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250652.1	NM_001962	
ELOVL3	83401	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	103988767	103988767	+	Missense_Mutation	SNP	A	A	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr10:103988767A>T	ENST00000370005.3	+	4	792	c.571A>T	c.(571-573)Aac>Tac	p.N191Y		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	191					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|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 membrane (GO:0016021)	transferase activity (GO:0016740)			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		GAAGGCTGCCAACGTGAAGCC	0.517																																					p.N191Y		.											.	ELOVL3	92	0			c.A571T						.						128.0	118.0	121.0					10																	103988767		2203	4300	6503	SO:0001583	missense	83401	exon4			GCTGCCAACGTGA	AF292387	CCDS7531.1	10q24	2011-05-25	2011-05-25		ENSG00000119915	ENSG00000119915			18047	protein-coding gene	gene with protein product		611815	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3"""				Standard	NM_152310		Approved	CIG-30	uc001kut.3	Q9HB03	OTTHUMG00000018951	ENST00000370005.3:c.571A>T	10.37:g.103988767A>T	ENSP00000359022:p.Asn191Tyr	149.0	0.0		122.0	5.0	NM_152310	Q5VZL3|Q8N180	Missense_Mutation	SNP	ENST00000370005.3	37	CCDS7531.1	.	.	.	.	.	.	.	.	.	.	A	16.24	3.067863	0.55539	.	.	ENSG00000119915	ENST00000370005	T	0.22336	1.96	5.57	1.96	0.26148	.	0.684456	0.13693	N	0.369386	T	0.19005	0.0456	L	0.33339	1.005	0.26067	N	0.981271	B	0.16603	0.018	B	0.35073	0.195	T	0.35400	-0.9790	10	0.87932	D	0	-15.7707	6.2622	0.20907	0.4996:0.0:0.5004:0.0	.	191	Q9HB03	ELOV3_HUMAN	Y	191	ENSP00000359022:N191Y	ENSP00000359022:N191Y	N	+	1	0	ELOVL3	103978757	0.998000	0.40836	0.462000	0.27118	0.979000	0.70002	3.902000	0.56310	0.410000	0.25675	0.528000	0.53228	AAC	.		0.517	ELOVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050030.1	NM_152310	
EPHA3	2042	hgsc.bcm.edu;bcgsc.ca	37	3	89390186	89390186	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr3:89390186G>T	ENST00000336596.2	+	4	1160	c.935G>T	c.(934-936)cGg>cTg	p.R312L	EPHA3_ENST00000494014.1_Missense_Mutation_p.R312L|EPHA3_ENST00000452448.2_Missense_Mutation_p.R312L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	312	Cys-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.R312L(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AATTACTTCCGGGCAGACAAA	0.458										TSP Lung(6;0.00050)																											p.R312L		.											.	EPHA3	1500	2	Substitution - Missense(2)	lung(2)	c.G935T						.						157.0	156.0	156.0					3																	89390186		2203	4300	6503	SO:0001583	missense	2042	exon4			ACTTCCGGGCAGA	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.935G>T	3.37:g.89390186G>T	ENSP00000337451:p.Arg312Leu	74.0	0.0		94.0	4.0	NM_005233	Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914940	0.92178	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	D;D;D	0.96168	-3.93;-3.93;-3.93	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.98592	0.9529	H	0.95574	3.69	0.80722	D	1	D;D	0.65815	0.995;0.995	D;P	0.70227	0.968;0.886	D	0.98701	1.0700	9	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	312;312	P29320;P29320-2	EPHA3_HUMAN;.	L	312	ENSP00000337451:R312L;ENSP00000399926:R312L;ENSP00000419190:R312L	.	R	+	2	0	EPHA3	89472876	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CGG	.		0.458	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	
EPHX4	253152	hgsc.bcm.edu;bcgsc.ca	37	1	92528734	92528734	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr1:92528734G>T	ENST00000370383.4	+	7	1078	c.980G>T	c.(979-981)aGg>aTg	p.R327M		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	327						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						AACTATTTCAGGCTAACTATT	0.388																																					p.R327M	GBM(140;473 1857 5172 22066 49719)	.											.	EPHX4	90	0			c.G980T						.						88.0	93.0	91.0					1																	92528734		2203	4300	6503	SO:0001583	missense	253152	exon7			ATTTCAGGCTAAC	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.980G>T	1.37:g.92528734G>T	ENSP00000359410:p.Arg327Met	93.0	0.0		80.0	4.0	NM_173567	Q8NCC6	Missense_Mutation	SNP	ENST00000370383.4	37	CCDS736.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199073	0.79015	.	.	ENSG00000172031	ENST00000370383	T	0.70399	-0.48	5.84	5.84	0.93424	.	0.043531	0.85682	D	0.000000	T	0.79221	0.4409	M	0.86268	2.805	0.53688	D	0.999975	P	0.49358	0.923	P	0.56343	0.796	T	0.82234	-0.0558	10	0.72032	D	0.01	.	13.3592	0.60646	0.0719:0.0:0.9281:0.0	.	327	Q8IUS5	EPHX4_HUMAN	M	327	ENSP00000359410:R327M	ENSP00000359410:R327M	R	+	2	0	EPHX4	92301322	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.227000	0.72282	2.756000	0.94617	0.650000	0.86243	AGG	.		0.388	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567	
EPS8L3	79574	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	110294654	110294654	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr1:110294654G>A	ENST00000361965.4	-	15	1503	c.1397C>T	c.(1396-1398)cCa>cTa	p.P466L	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Missense_Mutation_p.P436L|EPS8L3_ENST00000369805.3_Missense_Mutation_p.P467L	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	466	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CAGTTCCCGTGGGTTCCTAGC	0.597																																					p.P467L		.											.	EPS8L3	93	0			c.C1400T						.						105.0	106.0	105.0					1																	110294654		2203	4300	6503	SO:0001583	missense	79574	exon15			TCCCGTGGGTTCC	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.1397C>T	1.37:g.110294654G>A	ENSP00000355255:p.Pro466Leu	236.0	0.0		186.0	75.0	NM_139053	A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Missense_Mutation	SNP	ENST00000361965.4	37	CCDS814.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872393	0.51695	.	.	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	T;T;T	0.33216	1.42;1.42;1.42	5.57	4.64	0.57946	Src homology-3 domain (4);	0.852789	0.10775	N	0.635539	T	0.28995	0.0720	M	0.85299	2.745	0.35830	D	0.825258	P;B;P	0.42296	0.666;0.434;0.775	B;B;B	0.42282	0.23;0.242;0.382	T	0.25950	-1.0117	10	0.44086	T	0.13	-0.0164	11.7056	0.51595	0.0:0.0:0.8235:0.1765	.	436;466;467	Q8TE67-2;Q8TE67;Q8TE67-3	.;ES8L3_HUMAN;.	L	436;467;466	ENSP00000354551:P436L;ENSP00000358820:P467L;ENSP00000355255:P466L	ENSP00000354551:P436L	P	-	2	0	EPS8L3	110096177	0.114000	0.22134	0.814000	0.32528	0.820000	0.46376	1.671000	0.37513	1.318000	0.45170	0.655000	0.94253	CCA	.		0.597	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526	
EPX	8288	hgsc.bcm.edu;bcgsc.ca	37	17	56280606	56280606	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr17:56280606C>T	ENST00000225371.5	+	11	1983	c.1873C>T	c.(1873-1875)Ccg>Tcg	p.P625S		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	625					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	GCCTCTTTTGCCGGGGGCTCG	0.517																																					p.P625S		.											.	EPX	92	0			c.C1873T						.						67.0	71.0	70.0					17																	56280606		2203	4300	6503	SO:0001583	missense	8288	exon11			CTTTTGCCGGGGG	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1873C>T	17.37:g.56280606C>T	ENSP00000225371:p.Pro625Ser	120.0	0.0		84.0	5.0	NM_000502	Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193243	0.58017	.	.	ENSG00000121053	ENST00000225371	T	0.69806	-0.43	5.96	5.96	0.96718	.	0.271357	0.42964	D	0.000632	T	0.67183	0.2866	M	0.64997	1.995	0.43698	D	0.996156	B	0.12013	0.005	B	0.17433	0.018	T	0.62407	-0.6861	10	0.52906	T	0.07	-3.8105	17.9158	0.88950	0.0:1.0:0.0:0.0	.	625	P11678	PERE_HUMAN	S	625	ENSP00000225371:P625S	ENSP00000225371:P625S	P	+	1	0	EPX	53635605	0.005000	0.15991	0.983000	0.44433	0.862000	0.49288	1.256000	0.32921	2.832000	0.97577	0.655000	0.94253	CCG	.		0.517	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502	
ERBB3	2065	hgsc.bcm.edu;bcgsc.ca	37	12	56493513	56493513	+	Missense_Mutation	SNP	G	G	T	rs376939275		TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr12:56493513G>T	ENST00000267101.3	+	24	3361	c.2921G>T	c.(2920-2922)cGg>cTg	p.R974L	RP11-603J24.9_ENST00000548861.1_5'Flank|ERBB3_ENST00000450146.2_Missense_Mutation_p.R331L|ERBB3_ENST00000549832.1_Missense_Mutation_p.R94L|ERBB3_ENST00000553131.1_Missense_Mutation_p.R215L|ERBB3_ENST00000415288.2_Missense_Mutation_p.R915L	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	974					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GACCCACCACGGTATCTGGTC	0.468																																					p.R974L		.											.	ERBB3	1403	0			c.G2921T						.						82.0	73.0	76.0					12																	56493513		2203	4300	6503	SO:0001583	missense	2065	exon24			CACCACGGTATCT	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.2921G>T	12.37:g.56493513G>T	ENSP00000267101:p.Arg974Leu	164.0	0.0		91.0	4.0	NM_001982	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	34	5.408020	0.96051	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14	6.17	6.17	0.99709	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000004	T	0.67998	0.2953	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.982;0.997;0.994	T	0.69427	-0.5148	10	0.87932	D	0	.	19.6509	0.95805	0.0:0.0:1.0:0.0	.	915;94;974	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	L	974;331;915;97;215;94	ENSP00000267101:R974L;ENSP00000399178:R331L;ENSP00000408340:R915L;ENSP00000449129:R215L;ENSP00000448729:R94L	ENSP00000267101:R974L	R	+	2	0	ERBB3	54779780	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	9.513000	0.98010	2.941000	0.99782	0.655000	0.94253	CGG	.		0.468	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3		
ERN2	10595	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	23707249	23707249	+	Silent	SNP	G	G	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr16:23707249G>A	ENST00000457008.2	-	13	1458	c.1420C>T	c.(1420-1422)Ctg>Ttg	p.L474L	ERN2_ENST00000256797.4_Silent_p.L574L					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCGCGGCCCAGCACGTCCTTG	0.642																																					p.L574L		.											.	ERN2	322	0			c.C1720T						.						45.0	42.0	43.0					16																	23707249		2197	4300	6497	SO:0001819	synonymous_variant	10595	exon14			GGCCCAGCACGTC	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.1420C>T	16.37:g.23707249G>A		96.0	0.0		75.0	22.0	NM_033266		Silent	SNP	ENST00000457008.2	37																																																																																				.		0.642	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1		
ESR1	2099	hgsc.bcm.edu;bcgsc.ca	37	6	152382169	152382169	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr6:152382169A>G	ENST00000206249.3	+	6	1641	c.1279A>G	c.(1279-1281)Atg>Gtg	p.M427V	ESR1_ENST00000440973.1_Missense_Mutation_p.M427V|ESR1_ENST00000443427.1_Missense_Mutation_p.M427V|ESR1_ENST00000456483.2_Missense_Mutation_p.M315V|ESR1_ENST00000406599.1_Missense_Mutation_p.M166V|ESR1_ENST00000338799.5_Missense_Mutation_p.M427V|ESR1_ENST00000427531.2_Missense_Mutation_p.M254V	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	427	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	GATCTTCGACATGCTGCTGGC	0.373																																					p.M427V		.											.	ESR1	1042	0			c.A1279G						.						110.0	99.0	103.0					6																	152382169		2203	4300	6503	SO:0001583	missense	2099	exon6			TTCGACATGCTGC	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1279A>G	6.37:g.152382169A>G	ENSP00000206249:p.Met427Val	147.0	0.0		74.0	4.0	NM_000125	Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	ENST00000206249.3	37	CCDS5234.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.528128	0.85706	.	.	ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000456483;ENST00000443427;ENST00000206249;ENST00000406599;ENST00000431590;ENST00000544394;ENST00000415488	D;D;D;D;D;D;D;D	0.96396	-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0	5.38	5.38	0.77491	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97291	0.9114	M	0.65498	2.005	0.58432	D	0.999999	P;D;D;P;P;P;P	0.65815	0.704;0.968;0.995;0.607;0.514;0.458;0.514	P;P;D;B;B;B;B	0.72075	0.543;0.906;0.976;0.227;0.34;0.311;0.438	D	0.98336	1.0536	10	0.87932	D	0	.	15.4108	0.74917	1.0:0.0:0.0:0.0	.	331;122;166;354;426;427;427	B0QYW6;C8CJL6;Q9H2M1;B4E3R5;A8KAF4;G4XH65;P03372	.;.;.;.;.;.;ESR1_HUMAN	V	427;427;315;427;427;166;355;254;100	ENSP00000405330:M427V;ENSP00000342630:M427V;ENSP00000415934:M315V;ENSP00000387500:M427V;ENSP00000206249:M427V;ENSP00000384064:M166V;ENSP00000445454:M254V;ENSP00000401995:M100V	ENSP00000206249:M427V	M	+	1	0	ESR1	152423862	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.323000	0.96364	2.039000	0.60335	0.533000	0.62120	ATG	.		0.373	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1		
F5	2153	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	169512354	169512354	+	Splice_Site	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr1:169512354T>C	ENST00000367797.3	-	13	2177		c.e13-2		F5_ENST00000367796.3_Splice_Site	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)						blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TCCAAGTTCCTACAGAAGAGA	0.383																																					.		.											.	F5	157	0			c.1976-2A>G						.						50.0	50.0	50.0					1																	169512354		2202	4300	6502	SO:0001630	splice_region_variant	2153	exon14			AGTTCCTACAGAA	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1976-2A>G	1.37:g.169512354T>C		103.0	0.0		73.0	23.0	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Splice_Site	SNP	ENST00000367797.3	37	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	T	17.22	3.333513	0.60853	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	.	.	.	5.98	4.82	0.62117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9103	0.58177	0.0:0.0:0.1358:0.8642	.	.	.	.	.	-1	.	.	.	-	.	.	F5	167778978	1.000000	0.71417	0.806000	0.32338	0.751000	0.42716	6.275000	0.72594	1.035000	0.39972	0.482000	0.46254	.	.		0.383	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130	Intron
FASTK	10922	hgsc.bcm.edu;bcgsc.ca	37	7	150774997	150774997	+	Silent	SNP	A	A	G	rs189454687		TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr7:150774997A>G	ENST00000297532.6	-	5	1085	c.1008T>C	c.(1006-1008)gtT>gtC	p.V336V	FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000482571.1_Silent_p.V309V|FASTK_ENST00000540185.1_3'UTR|FASTK_ENST00000353841.2_Silent_p.V195V|RP11-148K1.12_ENST00000485974.1_RNA	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	336					apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		CAGGGGAAAAAACAAAGTGCA	0.617													A|||	1	0.000199681	0.0	0.0	5008	,	,		19748	0.0		0.001	False		,,,				2504	0.0				p.V336V		.											.	FASTK	359	0			c.T1008C						.						67.0	70.0	69.0					7																	150774997		2203	4300	6503	SO:0001819	synonymous_variant	10922	exon5			GGAAAAAACAAAG		CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.1008T>C	7.37:g.150774997A>G		223.0	0.0		116.0	5.0	NM_006712	A8K867|F8VTW9|Q59EM8|Q8IVA0	Silent	SNP	ENST00000297532.6	37	CCDS5918.1																																																																																			A|0.999;G|0.000		0.617	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351832.2	NM_006712	
FBXO45	200933	hgsc.bcm.edu;bcgsc.ca	37	3	196304623	196304623	+	Silent	SNP	A	A	T	rs374910244		TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr3:196304623A>T	ENST00000311630.6	+	2	915	c.618A>T	c.(616-618)ctA>ctT	p.L206L	FBXO45_ENST00000440469.1_Silent_p.L27L	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	206	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				anterior commissure morphogenesis (GO:0021960)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|corticospinal tract morphogenesis (GO:0021957)|neuron migration (GO:0001764)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|synapse assembly involved in innervation (GO:0060386)	cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		ATAATCTACTACATAATGGAG	0.478																																					p.L206L		.											.	FBXO45	614	0			c.A618T						.						58.0	58.0	58.0					3																	196304623		1947	4155	6102	SO:0001819	synonymous_variant	200933	exon2			TCTACTACATAAT	AK025697	CCDS46985.1	3q29	2008-02-05			ENSG00000174013	ENSG00000174013		"""F-boxes /  ""other"""""	29148	protein-coding gene	gene with protein product		609112					Standard	NM_001105573		Approved	Fbx45	uc010iai.3	P0C2W1	OTTHUMG00000155571	ENST00000311630.6:c.618A>T	3.37:g.196304623A>T		94.0	0.0		49.0	4.0	NM_001105573	A6NF90|D3DXB5	Silent	SNP	ENST00000311630.6	37	CCDS46985.1																																																																																			.		0.478	FBXO45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340687.2		
FEM1A	55527	hgsc.bcm.edu;bcgsc.ca	37	19	4792908	4792908	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr19:4792908T>C	ENST00000269856.3	+	1	1181	c.1042T>C	c.(1042-1044)Tat>Cat	p.Y348H	AC005523.2_ENST00000596170.1_RNA|AC005523.2_ENST00000601192.1_RNA|AC005523.3_ENST00000598782.1_lincRNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	348					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGTCCTGGCCTATGACTATTC	0.642																																					p.Y348H		.											.	FEM1A	90	0			c.T1042C						.						36.0	41.0	39.0					19																	4792908		2203	4297	6500	SO:0001583	missense	55527	exon1			CTGGCCTATGACT	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.1042T>C	19.37:g.4792908T>C	ENSP00000269856:p.Tyr348His	81.0	0.0		72.0	5.0	NM_018708	B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Missense_Mutation	SNP	ENST00000269856.3	37	CCDS12135.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.943645	0.73672	.	.	ENSG00000141965	ENST00000269856	T	0.74947	-0.89	4.73	4.73	0.59995	.	0.000000	0.64402	U	0.000004	D	0.88362	0.6416	M	0.92923	3.36	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.89148	0.3521	10	0.33940	T	0.23	-6.4772	14.231	0.65892	0.0:0.0:0.0:1.0	.	348	Q9BSK4	FEM1A_HUMAN	H	348	ENSP00000269856:Y348H	ENSP00000269856:Y348H	Y	+	1	0	FEM1A	4743908	1.000000	0.71417	0.988000	0.46212	0.991000	0.79684	7.856000	0.86956	1.768000	0.52137	0.402000	0.26972	TAT	.		0.642	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1		
FGGY	55277	hgsc.bcm.edu;bcgsc.ca	37	1	60019838	60019838	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr1:60019838A>G	ENST00000303721.7	+	8	1016	c.842A>G	c.(841-843)gAg>gGg	p.E281G	FGGY_ENST00000371210.1_5'UTR|FGGY_ENST00000371218.4_Missense_Mutation_p.E281G|FGGY_ENST00000371212.1_Missense_Mutation_p.E193G|FGGY_ENST00000474476.1_3'UTR	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	281					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					CTCATCTGTGAGGGGCAGCCA	0.517																																					p.E281G		.											.	FGGY	69	0			c.A842G						.						74.0	57.0	63.0					1																	60019838		2203	4300	6503	SO:0001583	missense	55277	exon8			TCTGTGAGGGGCA		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.842A>G	1.37:g.60019838A>G	ENSP00000305922:p.Glu281Gly	153.0	0.0		93.0	5.0	NM_001113411	B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Missense_Mutation	SNP	ENST00000303721.7	37	CCDS611.2	.	.	.	.	.	.	.	.	.	.	A	16.73	3.203046	0.58234	.	.	ENSG00000172456	ENST00000371218;ENST00000303721;ENST00000371212	T;T;T	0.25250	2.82;2.82;1.81	5.28	5.28	0.74379	.	0.049083	0.85682	D	0.000000	T	0.25938	0.0632	L	0.52364	1.645	0.80722	D	1	B;B;B;B	0.15141	0.004;0.012;0.002;0.004	B;B;B;B	0.17722	0.019;0.009;0.002;0.005	T	0.03706	-1.1011	9	.	.	.	-23.3108	15.3844	0.74684	1.0:0.0:0.0:0.0	.	281;193;281;281	Q96C11-3;B1AK94;F2Z2V1;Q96C11	.;.;.;FGGY_HUMAN	G	281;281;193	ENSP00000360262:E281G;ENSP00000305922:E281G;ENSP00000360256:E193G	.	E	+	2	0	FGGY	59792426	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.233000	0.78125	2.210000	0.71456	0.533000	0.62120	GAG	.		0.517	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411	
FGL2	10875	hgsc.bcm.edu;bcgsc.ca	37	7	76829024	76829024	+	Silent	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr7:76829024T>C	ENST00000248598.5	-	1	119	c.87A>G	c.(85-87)gaA>gaG	p.E29E	CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	29						extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						CATCTTTAATTTCCTCTGTTT	0.498																																					p.E29E		.											FGL2,nipple,malignant_melanoma,-2	FGL2	92	0			c.A87G						.						96.0	95.0	95.0					7																	76829024		2203	4300	6503	SO:0001819	synonymous_variant	10875	exon1			TTTAATTTCCTCT	Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"""Fibrinogen C domain containing"""	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.87A>G	7.37:g.76829024T>C		79.0	0.0		78.0	4.0	NM_006682		Silent	SNP	ENST00000248598.5	37	CCDS5591.1																																																																																			.		0.498	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1	NM_006682	
FMN2	56776	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	240370660	240370660	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr1:240370660A>G	ENST00000319653.9	+	5	2778	c.2548A>G	c.(2548-2550)Aaa>Gaa	p.K850E		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	850	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTCTGCCTTTAAAAACAGCTG	0.572																																					p.K850E		.											.	FMN2	145	0			c.A2548G						.						116.0	110.0	112.0					1																	240370660		2203	4300	6503	SO:0001583	missense	56776	exon5			GCCTTTAAAAACA	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2548A>G	1.37:g.240370660A>G	ENSP00000318884:p.Lys850Glu	147.0	0.0		116.0	54.0	NM_020066	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	A	1.248	-0.619425	0.03663	.	.	ENSG00000155816	ENST00000319653	T	0.22945	1.93	4.09	3.16	0.36331	Actin-binding FH2/DRF autoregulatory (1);	1.114880	0.06914	N	0.808154	T	0.09905	0.0243	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33523	-0.9865	9	.	.	.	.	4.5856	0.12280	0.2099:0.0:0.612:0.1781	.	850	Q9NZ56	FMN2_HUMAN	E	850	ENSP00000318884:K850E	.	K	+	1	0	FMN2	238437283	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.185000	0.16958	1.041000	0.40125	-0.375000	0.07067	AAA	.		0.572	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	
FOXO1	2308	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	41239792	41239792	+	Silent	SNP	G	G	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr13:41239792G>A	ENST00000379561.5	-	1	942	c.558C>T	c.(556-558)atC>atT	p.I186I		NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	186					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blood vessel development (GO:0001568)|cellular glucose homeostasis (GO:0001678)|cellular response to cold (GO:0070417)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hyperoxia (GO:0071455)|cellular response to insulin stimulus (GO:0032869)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular response to starvation (GO:0009267)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|regulation of cell proliferation (GO:0042127)|regulation of energy homeostasis (GO:2000505)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|protein phosphatase 2A binding (GO:0051721)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		TCCACTCGTAGATCTGCGACA	0.652																																					p.I186I		.											.	FOXO1	1295	0			c.C558T						.						33.0	27.0	29.0					13																	41239792		2203	4300	6503	SO:0001819	synonymous_variant	2308	exon1			CTCGTAGATCTGC		CCDS9371.1	13q14.1	2011-08-01	2007-05-02	2007-05-02	ENSG00000150907	ENSG00000150907		"""Forkhead boxes"""	3819	protein-coding gene	gene with protein product		136533	"""forkhead homolog in rhabdomyosarcoma"""	FKHR, FOXO1A		8275086, 15057823	Standard	NM_002015		Approved	FKH1	uc001uxl.4	Q12778	OTTHUMG00000016775	ENST00000379561.5:c.558C>T	13.37:g.41239792G>A		333.0	1.0		182.0	65.0	NM_002015	O43523|Q5VYC7|Q6NSK6	Silent	SNP	ENST00000379561.5	37	CCDS9371.1																																																																																			.		0.652	FOXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044634.3	NM_002015	
FOXP1	27086	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	71096149	71096149	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr3:71096149C>T	ENST00000318789.4	-	10	1133	c.608G>A	c.(607-609)gGc>gAc	p.G203D	FOXP1_ENST00000484350.1_Missense_Mutation_p.G127D|FOXP1_ENST00000493089.1_Missense_Mutation_p.G203D|FOXP1_ENST00000498215.1_Missense_Mutation_p.G203D|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000491238.1_Missense_Mutation_p.G205D|FOXP1_ENST00000475937.1_Missense_Mutation_p.G203D|FOXP1_ENST00000468577.1_Missense_Mutation_p.G203D	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	203	Gln-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TGTCAGAAGGCCTTGGCGCTG	0.532			T	PAX5	ALL																																p.G205D		.		Dom	yes		3	3p14.1	27086	forkhead box P1		L	.	FOXP1	415	0			c.G614A						.						153.0	154.0	154.0					3																	71096149		2203	4300	6503	SO:0001583	missense	27086	exon5			AGAAGGCCTTGGC	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.608G>A	3.37:g.71096149C>T	ENSP00000318902:p.Gly203Asp	235.0	2.0		158.0	19.0	NM_001244815	A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	ENST00000318789.4	37	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	C	33	5.262344	0.95368	.	.	ENSG00000114861	ENST00000318789;ENST00000318796;ENST00000475937;ENST00000339693;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577;ENST00000485326;ENST00000497553	T;T;T;T;T;T;T;T;T;T	0.61158	1.4;1.4;0.13;1.4;1.4;1.4;0.13;1.4;0.13;0.86	6.03	6.03	0.97812	.	0.191231	0.56097	D	0.000030	T	0.77418	0.4127	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.996;0.992;0.992	T	0.76537	-0.2923	10	0.59425	D	0.04	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	202;203;127;203	A3KMG1;G5E9V8;Q8NAN6;Q9H334	.;.;.;FOXP1_HUMAN	D	203;103;203;203;99;205;203;203;127;203;103;103	ENSP00000318902:G203D;ENSP00000419393:G203D;ENSP00000418225:G99D;ENSP00000420736:G205D;ENSP00000418524:G203D;ENSP00000418102:G203D;ENSP00000417857:G127D;ENSP00000418883:G203D;ENSP00000417941:G103D;ENSP00000418784:G103D	ENSP00000318902:G203D	G	-	2	0	FOXP1	71178839	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.057000	0.76669	2.854000	0.98071	0.655000	0.94253	GGC	.		0.532	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682	
FZD3	7976	hgsc.bcm.edu;bcgsc.ca	37	8	28385289	28385289	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr8:28385289A>G	ENST00000240093.3	+	5	1490	c.1012A>G	c.(1012-1014)Atc>Gtc	p.I338V	FZD3_ENST00000537916.1_Missense_Mutation_p.I338V|RNA5SP259_ENST00000365541.1_RNA	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	338					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TGCATGGGGCATCCCCGGAAC	0.438																																					p.I338V		.											.	FZD3	659	0			c.A1012G						.						147.0	143.0	145.0					8																	28385289		2203	4300	6503	SO:0001583	missense	7976	exon5			TGGGGCATCCCCG	AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.1012A>G	8.37:g.28385289A>G	ENSP00000240093:p.Ile338Val	133.0	0.0		59.0	4.0	NM_017412	A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	A	2.075	-0.412164	0.04799	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	T;T	0.81330	-1.48;-1.48	5.32	5.32	0.75619	GPCR, family 2-like (1);	0.110358	0.64402	D	0.000011	T	0.63988	0.2558	N	0.13003	0.285	0.45205	D	0.998214	B	0.13594	0.008	B	0.23150	0.044	T	0.59490	-0.7445	10	0.02654	T	1	.	14.0788	0.64907	1.0:0.0:0.0:0.0	.	338	Q9NPG1	FZD3_HUMAN	V	338	ENSP00000437489:I338V;ENSP00000240093:I338V	ENSP00000240093:I338V	I	+	1	0	FZD3	28441208	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.298000	0.43602	2.007000	0.58848	0.460000	0.39030	ATC	.		0.438	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866	
GFRAL	389400	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	55223877	55223877	+	Missense_Mutation	SNP	A	A	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr6:55223877A>C	ENST00000340465.2	+	6	979	c.893A>C	c.(892-894)cAa>cCa	p.Q298P		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	298					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACCATTACACAAAGTGAGGAA	0.393																																					p.Q298P		.											.	GFRAL	154	0			c.A893C						.						124.0	115.0	118.0					6																	55223877		2203	4299	6502	SO:0001583	missense	389400	exon6			TTACACAAAGTGA	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.893A>C	6.37:g.55223877A>C	ENSP00000343636:p.Gln298Pro	134.0	0.0		120.0	63.0	NM_207410	Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	A	7.534	0.659246	0.14645	.	.	ENSG00000187871	ENST00000340465	T	0.64803	-0.12	5.67	1.57	0.23409	GDNF/GAS1 (2);	0.937809	0.09022	N	0.860045	T	0.24084	0.0583	L	0.39633	1.23	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.13548	-1.0505	10	0.27082	T	0.32	-13.4037	1.733	0.02936	0.3225:0.3345:0.0849:0.2581	.	298	Q6UXV0	GFRAL_HUMAN	P	298	ENSP00000343636:Q298P	ENSP00000343636:Q298P	Q	+	2	0	GFRAL	55331836	0.000000	0.05858	0.113000	0.21522	0.899000	0.52679	0.198000	0.17217	0.385000	0.24970	-0.429000	0.05907	CAA	.		0.393	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410	
GGTLC1	92086	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	20	23967085	23967085	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr20:23967085G>A	ENST00000335694.4	-	2	368	c.164C>T	c.(163-165)aCc>aTc	p.T55I	GGTLC1_ENST00000286890.4_Missense_Mutation_p.T55I|GGTLC1_ENST00000278765.4_Missense_Mutation_p.T55I	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	55					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GAGGTTGATGGTGCTGGTGGC	0.622																																					p.T55I		.											.	GGTLC1	23	0			c.C164T						.						18.0	18.0	18.0					20																	23967085		2201	4279	6480	SO:0001583	missense	92086	exon2			TTGATGGTGCTGG	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"""Gamma-glutamyltransferases"""	16437	protein-coding gene	gene with protein product		612338	"""gamma-glutamyltransferase-like activity 4"", ""gamma-glutamyltransferase-like activity 3"""	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.164C>T	20.37:g.23967085G>A	ENSP00000337587:p.Thr55Ile	53.0	0.0		54.0	22.0	NM_178311	D3DW43|Q08246	Missense_Mutation	SNP	ENST00000335694.4	37	CCDS13163.1	.	.	.	.	.	.	.	.	.	.	g	12.80	2.045074	0.36085	.	.	ENSG00000149435	ENST00000286890;ENST00000278765;ENST00000335694	T;T;T	0.15603	2.41;2.41;2.41	0.844	0.844	0.18943	.	0.000000	0.85682	D	0.000000	T	0.54631	0.1870	H	0.99516	4.605	0.38367	D	0.944774	D	0.76494	0.999	D	0.70935	0.971	T	0.62478	-0.6846	10	0.87932	D	0	-51.049	7.477	0.27382	1.0E-4:0.0:0.9999:0.0	.	55	Q9BX51	GGTL1_HUMAN	I	55	ENSP00000286890:T55I;ENSP00000278765:T55I;ENSP00000337587:T55I	ENSP00000278765:T55I	T	-	2	0	GGTLC1	23915085	1.000000	0.71417	0.028000	0.17463	0.028000	0.11728	4.489000	0.60309	0.088000	0.17205	0.089000	0.15464	ACC	.		0.622	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2	
GK5	256356	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	141884509	141884509	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr3:141884509C>A	ENST00000392993.2	-	16	1696	c.1545G>T	c.(1543-1545)tgG>tgT	p.W515C		NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	515					glycerol catabolic process (GO:0019563)		ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						CTGCTTTGGCCCAGTTTTCCA	0.388																																					p.W515C		.											.	GK5	90	0			c.G1545T						.						222.0	202.0	209.0					3																	141884509		2203	4300	6503	SO:0001583	missense	256356	exon16			TTTGGCCCAGTTT	BX648681	CCDS33871.1	3q23	2014-02-12	2006-09-21		ENSG00000175066	ENSG00000175066		"""Glycerol kinases"""	28635	protein-coding gene	gene with protein product						12477932	Standard	NM_001039547		Approved	MGC40579	uc003euq.2	Q6ZS86	OTTHUMG00000133572	ENST00000392993.2:c.1545G>T	3.37:g.141884509C>A	ENSP00000418001:p.Trp515Cys	651.0	1.0		514.0	246.0	NM_001039547	B2R9I2|D3DNG2|Q8N2A7|Q8N5E6	Missense_Mutation	SNP	ENST00000392993.2	37	CCDS33871.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421896	0.83559	.	.	ENSG00000175066	ENST00000392993	D	0.91124	-2.79	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.97052	0.9037	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97577	1.0108	10	0.87932	D	0	-10.5498	19.2235	0.93808	0.0:1.0:0.0:0.0	.	515	Q6ZS86	GLPK5_HUMAN	C	515	ENSP00000418001:W515C	ENSP00000418001:W515C	W	-	3	0	GK5	143367199	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	6.578000	0.74032	2.838000	0.97847	0.591000	0.81541	TGG	.		0.388	GK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353999.1	NM_001039547	
GLTSCR1L	23506	hgsc.bcm.edu;bcgsc.ca	37	6	42819934	42819934	+	Splice_Site	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr6:42819934A>G	ENST00000314073.5	+	7	2120	c.1944A>G	c.(1942-1944)ccA>ccG	p.P648P	GLTSCR1L_ENST00000394168.1_Splice_Site_p.P648P			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	648																	CCACACTGCCAGGTCAGGAGC	0.522																																					p.P648P		.											.	.	.	0			c.A1944G						.						92.0	73.0	79.0					6																	42819934		2203	4300	6503	SO:0001630	splice_region_variant	23506	exon6			ACTGCCAGGTCAG	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.1945+1A>G	6.37:g.42819934A>G		115.0	0.0		123.0	5.0	NM_015349	A1L3W2|Q5TFZ3|Q92514	Silent	SNP	ENST00000314073.5	37	CCDS34451.1																																																																																			.		0.522	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349	Silent
GNAL	2774	hgsc.bcm.edu;bcgsc.ca	37	18	11881066	11881066	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr18:11881066C>A	ENST00000423027.3	+	12	1399	c.1078C>A	c.(1078-1080)Cgc>Agc	p.R360S	GNAL_ENST00000269162.5_Missense_Mutation_p.R360S|GNAL_ENST00000334049.6_Missense_Mutation_p.R437S|GNAL_ENST00000602628.1_Missense_Mutation_p.R153S|GNAL_ENST00000535121.1_Missense_Mutation_p.R360S			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	360					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						AGAGAACATCCGCAGGGTGTT	0.612																																					p.R437S		.											.	GNAL	228	0			c.C1309A						.						91.0	62.0	72.0					18																	11881066		2203	4300	6503	SO:0001583	missense	2774	exon12			AACATCCGCAGGG	AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.1078C>A	18.37:g.11881066C>A	ENSP00000408489:p.Arg360Ser	114.0	0.0		62.0	5.0	NM_182978	B7ZA26|Q86XU3	Missense_Mutation	SNP	ENST00000423027.3	37	CCDS11852.1	.	.	.	.	.	.	.	.	.	.	C	36	5.705057	0.96812	.	.	ENSG00000141404	ENST00000540217;ENST00000334049;ENST00000535121;ENST00000269162;ENST00000423027;ENST00000535980	D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47	5.55	5.55	0.83447	.	0.046280	0.85682	D	0.000000	D	0.93956	0.8065	M	0.78801	2.425	0.80722	D	1	D;P	0.58620	0.983;0.866	P;P	0.60345	0.873;0.801	D	0.94342	0.7571	10	0.87932	D	0	.	19.4958	0.95072	0.0:1.0:0.0:0.0	.	360;437	P38405;Q86XU3	GNAL_HUMAN;.	S	299;437;360;360;360;153	ENSP00000334051:R437S;ENSP00000439023:R360S;ENSP00000269162:R360S;ENSP00000408489:R360S	ENSP00000269162:R360S	R	+	1	0	GNAL	11871066	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.748000	0.85085	2.591000	0.87537	0.563000	0.77884	CGC	.		0.612	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	NM_182978, NM_002071	
GNL2	29889	hgsc.bcm.edu;bcgsc.ca	37	1	38048471	38048471	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr1:38048471G>T	ENST00000373062.3	-	7	801	c.703C>A	c.(703-705)Cct>Act	p.P235T		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	235	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TCAATGTGAGGGGAACGAGTA	0.393																																					p.P235T		.											.	GNL2	91	0			c.C703A						.						171.0	159.0	163.0					1																	38048471		2203	4300	6503	SO:0001583	missense	29889	exon7			TGTGAGGGGAACG	L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.703C>A	1.37:g.38048471G>T	ENSP00000362153:p.Pro235Thr	122.0	0.0		85.0	5.0	NM_013285	Q9BWN7	Missense_Mutation	SNP	ENST00000373062.3	37	CCDS421.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359782	0.41801	.	.	ENSG00000134697	ENST00000373062;ENST00000545489	T	0.14516	2.5	5.87	3.94	0.45596	.	0.329365	0.37053	N	0.002278	T	0.13628	0.0330	L	0.49640	1.575	0.44937	D	0.997951	B	0.27068	0.167	B	0.29598	0.104	T	0.05484	-1.0882	10	0.18276	T	0.48	-8.6586	11.9514	0.52956	0.0664:0.1223:0.8113:0.0	.	235	Q13823	NOG2_HUMAN	T	235;76	ENSP00000362153:P235T	ENSP00000362153:P235T	P	-	1	0	GNL2	37821058	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.276000	0.65580	0.768000	0.33290	0.591000	0.81541	CCT	.		0.393	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285	
GOSR2	9570	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	17	45006918	45006918	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr17:45006918G>A	ENST00000393456.2	+	2	119	c.62G>A	c.(61-63)cGc>cAc	p.R21H	RP11-156P1.2_ENST00000571841.1_Missense_Mutation_p.R21H|GOSR2_ENST00000415811.2_Missense_Mutation_p.R21H|GOSR2_ENST00000439730.2_Missense_Mutation_p.R21H|GOSR2_ENST00000576910.2_Missense_Mutation_p.R21H|GOSR2_ENST00000225567.4_Missense_Mutation_p.R21H|GOSR2_ENST00000575949.1_Missense_Mutation_p.R21H	NM_004287.3	NP_004278.2	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	21					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			TGCATGGGACGCCTGGAGACG	0.517																																					p.R21H		.											.	GOSR2	92	0			c.G62A						.						100.0	82.0	88.0					17																	45006918		2203	4300	6503	SO:0001583	missense	9570	exon2			TGGGACGCCTGGA	AF007548	CCDS11507.1, CCDS42355.1, CCDS45719.1	17q21	2006-02-10				ENSG00000108433			4431	protein-coding gene	gene with protein product		604027				9349823, 10198168	Standard	XM_005257843		Approved	GS27, Bos1	uc002ikz.3	O14653		ENST00000393456.2:c.62G>A	17.37:g.45006918G>A	ENSP00000377101:p.Arg21His	70.0	0.0		49.0	23.0	NM_001012511	D3DXJ5|D3DXJ6|Q8N4B8|Q96DA5|Q9BZZ4	Missense_Mutation	SNP	ENST00000393456.2	37	CCDS42355.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628916	0.46944	.	.	ENSG00000108433	ENST00000225567;ENST00000393456;ENST00000415811;ENST00000439730	T;T;T;T	0.47177	0.85;0.85;0.85;1.85	5.74	5.74	0.90152	.	0.265792	0.45126	D	0.000392	T	0.45034	0.1322	L	0.58810	1.83	0.54753	D	0.999986	B;B;B;B	0.28208	0.01;0.039;0.016;0.203	B;B;B;B	0.19148	0.003;0.003;0.006;0.024	T	0.40924	-0.9537	10	0.62326	D	0.03	-22.8506	14.6945	0.69110	0.0:0.0:0.8548:0.1452	.	21;21;21;21	E7EQ34;O14653;O14653-2;Q8N4B8	.;GOSR2_HUMAN;.;.	H	21	ENSP00000225567:R21H;ENSP00000377101:R21H;ENSP00000394559:R21H;ENSP00000390577:R21H	ENSP00000225567:R21H	R	+	2	0	GOSR2	42361917	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.817000	0.39002	2.873000	0.98535	0.561000	0.74099	CGC	.		0.517	GOSR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440438.1		
GPATCH3	63906	hgsc.bcm.edu;bcgsc.ca	37	1	27226824	27226824	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr1:27226824C>A	ENST00000361720.5	-	1	133	c.110G>T	c.(109-111)cGa>cTa	p.R37L		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	37							nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GCGCTCTTCTCGGAACTGGCT	0.632																																					p.R37L		.											.	GPATCH3	90	0			c.G110T						.						33.0	34.0	33.0					1																	27226824		2203	4300	6503	SO:0001583	missense	63906	exon1			TCTTCTCGGAACT	BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.110G>T	1.37:g.27226824C>A	ENSP00000354645:p.Arg37Leu	129.0	0.0		46.0	4.0	NM_022078	Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	ENST00000361720.5	37	CCDS290.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818395	0.50633	.	.	ENSG00000198746	ENST00000361720;ENST00000536641	T	0.27402	1.67	5.5	5.5	0.81552	.	0.193744	0.45361	D	0.000371	T	0.20820	0.0501	L	0.28274	0.84	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.05971	-1.0853	10	0.19590	T	0.45	-17.9273	11.8439	0.52371	0.2156:0.7844:0.0:0.0	.	37	Q96I76	GPTC3_HUMAN	L	37	ENSP00000354645:R37L	ENSP00000354645:R37L	R	-	2	0	GPATCH3	27099411	1.000000	0.71417	0.995000	0.50966	0.879000	0.50718	3.382000	0.52463	2.854000	0.98071	0.655000	0.94253	CGA	.		0.632	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1	NM_022078	
GPR98	84059	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	5	89971070	89971070	+	Silent	SNP	G	G	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr5:89971070G>A	ENST00000405460.2	+	24	5217	c.5121G>A	c.(5119-5121)caG>caA	p.Q1707Q	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1707					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCTTGCTGCAGTTCTCCACAG	0.483																																					p.Q1707Q		.											.	GPR98	103	0			c.G5121A						.						47.0	49.0	48.0					5																	89971070		2067	4215	6282	SO:0001819	synonymous_variant	84059	exon24			GCTGCAGTTCTCC	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.5121G>A	5.37:g.89971070G>A		84.0	0.0		53.0	41.0	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	CCDS47246.1																																																																																			.		0.483	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
GSDMB	55876	hgsc.bcm.edu;bcgsc.ca	37	17	38068744	38068746	+	In_Frame_Del	DEL	TTT	TTT	-			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	TTT	TTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr17:38068744_38068746delTTT	ENST00000394179.1	-	3	370_372	c.240_242delAAA	c.(238-243)caaaag>cag	p.K81del	GSDMB_ENST00000394175.2_In_Frame_Del_p.K81del|GSDMB_ENST00000360317.3_In_Frame_Del_p.K81del|GSDMB_ENST00000418519.1_In_Frame_Del_p.K81del|GSDMB_ENST00000520542.1_In_Frame_Del_p.K81del|GSDMB_ENST00000309481.7_In_Frame_Del_p.K81del			Q8TAX9	GSDMB_HUMAN	gasdermin B	81						cytoplasm (GO:0005737)				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						AAACTCAGCCTTTTGACCTGGAA	0.478																																					p.80_81del		.											.	GSDMB	153	0			c.240_242del						.																																			SO:0001651	inframe_deletion	55876	exon3			TCAGCCTTTTGAC	AF119884	CCDS11354.1, CCDS42313.1, CCDS54119.1, CCDS54120.1	17q21.2	2008-07-31	2008-07-31	2008-07-31	ENSG00000073605	ENSG00000073605			23690	protein-coding gene	gene with protein product		611221	"""gasdermin-like"""	GSDML		12883658, 15010812, 17350798	Standard	NM_001042471		Approved	PRO2521	uc010cwj.3	Q8TAX9	OTTHUMG00000133248	ENST00000394179.1:c.240_242delAAA	17.37:g.38068744_38068746delTTT	ENSP00000377733:p.Lys81del	219.0	0.0		218.0	104.0	NM_001042471	B4DKK7|Q7Z377|Q8WY76|Q9NX71|Q9P163	In_Frame_Del	DEL	ENST00000394179.1	37																																																																																				.		0.478	GSDMB-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_018530	
GTF3C1	2975	hgsc.bcm.edu;bcgsc.ca	37	16	27499733	27499733	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr16:27499733T>C	ENST00000356183.4	-	23	3530	c.3515A>G	c.(3514-3516)aAc>aGc	p.N1172S	GTF3C1_ENST00000561623.1_Missense_Mutation_p.N1172S	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1172					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CAACCTGCTGTTGCCTAGACA	0.542																																					p.N1172S		.											.	GTF3C1	94	0			c.A3515G						.						108.0	109.0	109.0					16																	27499733		2197	4300	6497	SO:0001583	missense	2975	exon23			CTGCTGTTGCCTA	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.3515A>G	16.37:g.27499733T>C	ENSP00000348510:p.Asn1172Ser	105.0	0.0		60.0	4.0	NM_001520	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	T	1.419	-0.573316	0.03882	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.21932	1.98	4.9	-6.65	0.01795	.	0.943286	0.08892	N	0.878477	T	0.08403	0.0209	N	0.16066	0.365	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.001;0.004	T	0.43507	-0.9387	10	0.02654	T	1	-19.0721	10.3697	0.44046	0.0:0.5609:0.1161:0.323	.	1172;1172	Q12789;Q12789-3	TF3C1_HUMAN;.	S	1172;1168	ENSP00000348510:N1172S	ENSP00000348510:N1172S	N	-	2	0	GTF3C1	27407234	0.000000	0.05858	0.000000	0.03702	0.895000	0.52256	-0.690000	0.05138	-1.774000	0.01288	0.459000	0.35465	AAC	.		0.542	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520	
HACE1	57531	hgsc.bcm.edu;bcgsc.ca	37	6	105259252	105259252	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr6:105259252A>G	ENST00000262903.4	-	7	827	c.551T>C	c.(550-552)cTa>cCa	p.L184P	HACE1_ENST00000369125.2_Missense_Mutation_p.L184P	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	184					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		ACCACTGTCTAGCAAGCACTG	0.358																																					p.L184P		.											.	HACE1	663	0			c.T551C						.						107.0	106.0	106.0					6																	105259252		2203	4299	6502	SO:0001583	missense	57531	exon7			CTGTCTAGCAAGC	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.551T>C	6.37:g.105259252A>G	ENSP00000262903:p.Leu184Pro	117.0	0.0		67.0	4.0	NM_020771	A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	A	16.33	3.094336	0.56075	.	.	ENSG00000085382	ENST00000262903;ENST00000369125;ENST00000519645	T;T;T	0.72725	-0.68;-0.68;-0.68	5.34	5.34	0.76211	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000001	D	0.87597	0.6217	H	0.96777	3.88	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.81914	0.995;0.977	D	0.91854	0.5494	10	0.87932	D	0	.	14.9585	0.71138	1.0:0.0:0.0:0.0	.	184;184	E9PGP0;Q8IYU2	.;HACE1_HUMAN	P	184;184;140	ENSP00000262903:L184P;ENSP00000358121:L184P;ENSP00000429765:L140P	ENSP00000262903:L184P	L	-	2	0	HACE1	105365945	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.563000	0.82314	2.008000	0.58898	0.460000	0.39030	CTA	.		0.358	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095	
HDLBP	3069	hgsc.bcm.edu;bcgsc.ca	37	2	242186199	242186199	+	Silent	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr2:242186199G>T	ENST00000391975.1	-	16	2145	c.1918C>A	c.(1918-1920)Cgg>Agg	p.R640R	HDLBP_ENST00000427183.2_Silent_p.R607R|HDLBP_ENST00000310931.4_Silent_p.R640R|HDLBP_ENST00000476807.1_5'Flank|AC104841.1_ENST00000578965.1_RNA|HDLBP_ENST00000391976.2_Silent_p.R640R	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	640	KH 7. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)	p.R640W(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		ATCCTGCTCCGGGCAGCTTCG	0.458																																					p.R640R		.											.	HDLBP	290	1	Substitution - Missense(1)	endometrium(1)	c.C1918A						.						131.0	135.0	134.0					2																	242186199		2203	4300	6503	SO:0001819	synonymous_variant	3069	exon16			TGCTCCGGGCAGC		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1918C>A	2.37:g.242186199G>T		121.0	0.0		122.0	5.0	NM_005336	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Silent	SNP	ENST00000391975.1	37	CCDS2547.1	.	.	.	.	.	.	.	.	.	.	G	0.112	-1.136950	0.01742	.	.	ENSG00000115677	ENST00000373292	.	.	.	6.16	1.38	0.22167	.	.	.	.	.	T	0.39835	0.1093	.	.	.	0.34007	D	0.650997	.	.	.	.	.	.	T	0.44559	-0.9320	4	.	.	.	-6.8468	4.7722	0.13162	0.2467:0.0:0.5192:0.2341	.	.	.	.	Q	448	.	.	P	-	2	0	HDLBP	241834872	1.000000	0.71417	0.000000	0.03702	0.004000	0.04260	3.222000	0.51223	-0.018000	0.14079	-0.188000	0.12872	CCG	.		0.458	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346	
HEATR5A	25938	hgsc.bcm.edu;bcgsc.ca	37	14	31819853	31819853	+	Silent	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr14:31819853A>G	ENST00000389961.3	-	16	2463	c.2464T>C	c.(2464-2466)Tta>Cta	p.L822L	HEATR5A_ENST00000543095.2_Silent_p.L828L|HEATR5A_ENST00000439348.1_Silent_p.L822L|HEATR5A_ENST00000404677.3_Silent_p.L828L|HEATR5A_ENST00000439727.1_Silent_p.L535L			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	822										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		ACAACATGTAACTGAACCACT	0.313																																					p.L828L		.											.	HEATR5A	23	0			c.T2482C						.						78.0	74.0	75.0					14																	31819853		1818	4074	5892	SO:0001819	synonymous_variant	25938	exon17			CATGTAACTGAAC	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.2464T>C	14.37:g.31819853A>G		69.0	0.0		61.0	4.0	NM_015473	Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Silent	SNP	ENST00000389961.3	37		.	.	.	.	.	.	.	.	.	.	A	9.185	1.024644	0.19433	.	.	ENSG00000129493	ENST00000550366	.	.	.	5.41	4.26	0.50523	.	.	.	.	.	T	0.59418	0.2192	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55398	-0.8147	4	.	.	.	.	9.1952	0.37224	0.847:0.0:0.153:0.0	.	.	.	.	A	470	.	.	V	-	2	0	HEATR5A	30889604	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	2.547000	0.45786	0.890000	0.36211	0.533000	0.62120	GTT	.		0.313	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473	
HERC1	8925	hgsc.bcm.edu;bcgsc.ca	37	15	63915040	63915040	+	Silent	SNP	G	G	T	rs560505113		TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr15:63915040G>T	ENST00000443617.2	-	74	13749	c.13662C>A	c.(13660-13662)acC>acA	p.T4554T		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4554	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCACTTCTGCGGTGGCATTGG	0.358																																					p.T4554T		.											.	HERC1	666	0			c.C13662A						.						45.0	44.0	44.0					15																	63915040		1834	4087	5921	SO:0001819	synonymous_variant	8925	exon74			TTCTGCGGTGGCA	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13662C>A	15.37:g.63915040G>T		77.0	0.0		71.0	4.0	NM_003922	Q8IW65	Silent	SNP	ENST00000443617.2	37	CCDS45277.1																																																																																			.		0.358	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	
HIBADH	11112	hgsc.bcm.edu;bcgsc.ca	37	7	27672052	27672052	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr7:27672052G>T	ENST00000265395.2	-	3	471	c.265C>A	c.(265-267)Cca>Aca	p.P89T		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	89					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)			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)			ACATCTGCTGGGGAAGATACT	0.368																																					p.P89T		.											.	HIBADH	92	0			c.C265A						.						110.0	106.0	107.0					7																	27672052		2203	4300	6503	SO:0001583	missense	11112	exon3			CTGCTGGGGAAGA	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.265C>A	7.37:g.27672052G>T	ENSP00000265395:p.Pro89Thr	86.0	0.0		76.0	4.0	NM_152740	Q546Z2|Q9UDN3	Missense_Mutation	SNP	ENST00000265395.2	37	CCDS5414.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759483	0.49468	.	.	ENSG00000106049	ENST00000265395	T	0.37915	1.17	5.8	5.8	0.92144	6-phosphogluconate dehydrogenase, NADP-binding (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.50633	0.1627	M	0.77103	2.36	0.80722	D	1	P;P	0.37997	0.614;0.614	B;B	0.43155	0.41;0.41	T	0.47129	-0.9141	10	0.39692	T	0.17	-23.3127	20.0643	0.97702	0.0:0.0:1.0:0.0	.	89;89	Q546Z2;P31937	.;3HIDH_HUMAN	T	89	ENSP00000265395:P89T	ENSP00000265395:P89T	P	-	1	0	HIBADH	27638577	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.138000	0.94501	2.737000	0.93849	0.650000	0.86243	CCA	.		0.368	HIBADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214132.1	NM_152740	
HIP1	3092	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	7	75186064	75186064	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr7:75186064T>C	ENST00000336926.6	-	17	1659	c.1633A>G	c.(1633-1635)Agc>Ggc	p.S545G	HIP1_ENST00000434438.2_Missense_Mutation_p.S545G	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	545					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TCCCGTTGGCTTGTGGCAAGT	0.463			T	PDGFRB	CMML																																p.S545G		.		Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	.	HIP1	1085	0			c.A1633G						.						113.0	115.0	114.0					7																	75186064		2203	4300	6503	SO:0001583	missense	3092	exon17			GTTGGCTTGTGGC	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.1633A>G	7.37:g.75186064T>C	ENSP00000336747:p.Ser545Gly	70.0	0.0		43.0	4.0	NM_005338	B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	T	8.497	0.863309	0.17250	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.14516	2.72;2.5	5.93	5.93	0.95920	.	0.226266	0.64402	D	0.000011	T	0.14270	0.0345	L	0.50919	1.6	0.45502	D	0.998461	B;B	0.21225	0.0;0.053	B;B	0.19391	0.0;0.025	T	0.08371	-1.0725	10	0.15952	T	0.53	-15.3367	13.7453	0.62872	0.0:0.0:0.0:1.0	.	545;545	E7ES17;O00291	.;HIP1_HUMAN	G	545	ENSP00000336747:S545G;ENSP00000410300:S545G	ENSP00000336747:S545G	S	-	1	0	HIP1	75024000	1.000000	0.71417	0.983000	0.44433	0.051000	0.14879	4.648000	0.61425	2.257000	0.74773	0.533000	0.62120	AGC	.		0.463	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338	
HMGCR	3156	hgsc.bcm.edu;bcgsc.ca	37	5	74638583	74638583	+	Silent	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr5:74638583A>G	ENST00000287936.4	+	2	309	c.153A>G	c.(151-153)ccA>ccG	p.P51P	HMGCR_ENST00000511206.1_Silent_p.P51P|HMGCR_ENST00000343975.5_Silent_p.P51P	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	51					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	ATGAATGTCCAAAGTTTGAAG	0.373																																					p.P51P		.											.	HMGCR	227	0			c.A153G						.						101.0	93.0	95.0					5																	74638583		2203	4300	6503	SO:0001819	synonymous_variant	3156	exon2			ATGTCCAAAGTTT		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"""hydroxymethylglutaryl-CoA reductase"", ""3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"""	142910	"""3-hydroxy-3-methylglutaryl-Coenzyme A reductase"""				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.153A>G	5.37:g.74638583A>G		159.0	0.0		91.0	5.0	NM_001130996	B7Z3Y9|Q8N190	Silent	SNP	ENST00000287936.4	37	CCDS4027.1																																																																																			.		0.373	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2		
HOMER1	9456	hgsc.bcm.edu;bcgsc.ca	37	5	78692728	78692728	+	Splice_Site	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr5:78692728T>C	ENST00000334082.6	-	8	2238		c.e8-2		HOMER1_ENST00000282260.6_Splice_Site|HOMER1_ENST00000535690.1_Splice_Site|HOMER1_ENST00000508576.1_Intron	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)						behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		TTCTATTTCCTAGAAAAGACA	0.338																																					.		.											.	HOMER1	90	0			c.406-2A>G						.						98.0	86.0	89.0					5																	78692728		1822	4077	5899	SO:0001630	splice_region_variant	9456	exon6			ATTTCCTAGAAAA	BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.796-2A>G	5.37:g.78692728T>C		240.0	0.0		123.0	5.0	NM_001277077	B2R688|O96003|Q86YM5	Splice_Site	SNP	ENST00000334082.6	37	CCDS43335.1	.	.	.	.	.	.	.	.	.	.	T	19.33	3.806032	0.70682	.	.	ENSG00000152413	ENST00000334082;ENST00000282260;ENST00000535690	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1139	0.72384	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	HOMER1	78728484	1.000000	0.71417	0.998000	0.56505	0.884000	0.51177	7.063000	0.76714	2.267000	0.75376	0.533000	0.62120	.	.		0.338	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258856.1	NM_004272	Intron
HOMEZ	57594	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	14	23745570	23745570	+	Silent	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr14:23745570A>G	ENST00000357460.5	-	2	1031	c.867T>C	c.(865-867)tcT>tcC	p.S289S	HOMEZ_ENST00000431326.2_Silent_p.S291S|HOMEZ_ENST00000561013.1_Silent_p.S291S	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	289	Poly-Ser.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GGAAAGAAGAAGAGGTAGAGG	0.512																																					p.S289S		.											.	HOMEZ	22	0			c.T867C						.						61.0	64.0	63.0					14																	23745570		2124	4222	6346	SO:0001819	synonymous_variant	57594	exon2			AGAAGAAGAGGTA	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.867T>C	14.37:g.23745570A>G		138.0	0.0		132.0	18.0	NM_020834	A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Silent	SNP	ENST00000357460.5	37	CCDS45085.1																																																																																			.		0.512	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834	
HRNR	388697	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	1	152191383	152191383	+	Nonsense_Mutation	SNP	G	G	A	rs148651006	byFrequency	TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr1:152191383G>A	ENST00000368801.2	-	3	2797	c.2722C>T	c.(2722-2724)Cga>Tga	p.R908*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	908					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCCATGTCGGCCATAGCTG	0.652																																					p.R908X		.											.	HRNR	93	0			c.C2722T						.						108.0	119.0	115.0					1																	152191383		2203	4300	6503	SO:0001587	stop_gained	388697	exon3			CATGTCGGCCATA	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2722C>T	1.37:g.152191383G>A	ENSP00000357791:p.Arg908*	166.0	0.0		126.0	48.0	NM_001009931	Q5DT20|Q5U1F4	Nonsense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	37	6.399607	0.97537	.	.	ENSG00000197915	ENST00000368801	.	.	.	3.96	1.36	0.22044	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	2.6094	0.04887	0.105:0.3246:0.3911:0.1792	.	.	.	.	X	908	.	ENSP00000357791:R908X	R	-	1	2	HRNR	150458007	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.252000	0.08806	0.078000	0.16900	0.505000	0.49811	CGA	A|0.000;G|0.999;T|0.000		0.652	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
HUWE1	10075	hgsc.bcm.edu;bcgsc.ca	37	X	53579842	53579842	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chrX:53579842G>T	ENST00000342160.3	-	61	8964	c.8507C>A	c.(8506-8508)cCa>cAa	p.P2836Q	HUWE1_ENST00000262854.6_Missense_Mutation_p.P2836Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2836					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGCTCTCTCTGGGGAAAGTGA	0.507																																					p.P2836Q		.											.	HUWE1	280	0			c.C8507A						.						45.0	44.0	44.0					X																	53579842		2203	4300	6503	SO:0001583	missense	10075	exon62			CTCTCTGGGGAAA	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.8507C>A	X.37:g.53579842G>T	ENSP00000340648:p.Pro2836Gln	115.0	0.0		83.0	4.0	NM_031407	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418814	0.62622	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.37235	1.21;1.21	5.74	5.74	0.90152	.	0.592639	0.17254	N	0.181031	T	0.48519	0.1504	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.991;0.996	T	0.31971	-0.9924	10	0.27785	T	0.31	.	17.5784	0.87957	0.0:0.0:1.0:0.0	.	2836;2836	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	Q	2836	ENSP00000340648:P2836Q;ENSP00000262854:P2836Q	ENSP00000262854:P2836Q	P	-	2	0	HUWE1	53596567	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.813000	0.91963	2.422000	0.82143	0.600000	0.82982	CCA	.		0.507	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	
INADL	10207	hgsc.bcm.edu;bcgsc.ca	37	1	62582321	62582321	+	Silent	SNP	C	C	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr1:62582321C>A	ENST00000371158.2	+	36	4887	c.4773C>A	c.(4771-4773)gcC>gcA	p.A1591A	INADL_ENST00000543708.1_Silent_p.A405A	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1591	PDZ 9. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TGAGAAATGCCTCACAGGAGA	0.507																																					p.A1591A		.											.	INADL	94	0			c.C4773A						.						73.0	76.0	75.0					1																	62582321		1984	4156	6140	SO:0001819	synonymous_variant	10207	exon36			AAATGCCTCACAG	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.4773C>A	1.37:g.62582321C>A		95.0	0.0		51.0	4.0	NM_176877	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Silent	SNP	ENST00000371158.2	37	CCDS617.2																																																																																			.		0.507	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605	
IGFN1	91156	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	201186487	201186487	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr1:201186487C>T	ENST00000335211.4	+	17	9798	c.9668C>T	c.(9667-9669)gCa>gTa	p.A3223V	IGFN1_ENST00000295591.8_Missense_Mutation_p.A383V	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	766						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACATGGACAGCACCTCGGGGC	0.652																																					p.A3223V		.											.	IGFN1	71	0			c.C9668T						.						63.0	64.0	64.0					1																	201186487		2203	4300	6503	SO:0001583	missense	91156	exon17			GGACAGCACCTCG	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.9668C>T	1.37:g.201186487C>T	ENSP00000334714:p.Ala3223Val	235.0	0.0		182.0	23.0	NM_001164586	F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607853	0.87258	.	.	ENSG00000163395	ENST00000335211;ENST00000295591	T;T	0.58940	0.3;0.3	4.68	4.68	0.58851	.	0.227102	0.37393	N	0.002106	T	0.63271	0.2497	L	0.58969	1.84	0.38149	D	0.938696	P	0.39520	0.676	P	0.48488	0.579	T	0.63642	-0.6591	10	0.24483	T	0.36	.	15.7862	0.78306	0.0:1.0:0.0:0.0	.	3223	F8WAI1	.	V	3223;383	ENSP00000334714:A3223V;ENSP00000295591:A383V	ENSP00000295591:A383V	A	+	2	0	IGFN1	199453110	0.885000	0.30320	0.114000	0.21550	0.008000	0.06430	4.271000	0.58902	2.129000	0.65627	0.561000	0.74099	GCA	.		0.652	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275	
INSC	387755	hgsc.bcm.edu;bcgsc.ca	37	11	15247245	15247245	+	Silent	SNP	G	G	T	rs111784838		TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr11:15247245G>T	ENST00000379554.3	+	9	1228	c.1182G>T	c.(1180-1182)gcG>gcT	p.A394A	INSC_ENST00000530161.1_Silent_p.A347A|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000528567.1_Silent_p.A347A|INSC_ENST00000525218.1_Silent_p.A305A|INSC_ENST00000379556.3_Silent_p.A347A|INSC_ENST00000424273.1_Silent_p.A305A	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	394					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TGGCCTCTGCGGCCCTTGCCA	0.512																																					p.A394A		.											.	INSC	94	0			c.G1182T						.						67.0	66.0	66.0					11																	15247245		1951	4142	6093	SO:0001819	synonymous_variant	387755	exon9			CTCTGCGGCCCTT	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.1182G>T	11.37:g.15247245G>T		96.0	0.0		66.0	4.0	NM_001031853	A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Silent	SNP	ENST00000379554.3	37	CCDS41621.1																																																																																			G|0.999;A|0.001		0.512	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853	
INSC	387755	hgsc.bcm.edu;bcgsc.ca	37	11	15262003	15262003	+	Silent	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr11:15262003T>C	ENST00000379554.3	+	12	1591	c.1545T>C	c.(1543-1545)cgT>cgC	p.R515R	INSC_ENST00000530161.1_Silent_p.R468R|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000528567.1_Silent_p.R468R|INSC_ENST00000525218.1_Silent_p.R426R|INSC_ENST00000379556.3_Silent_p.R468R|INSC_ENST00000424273.1_Silent_p.R426R	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	515					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GCATGTCCCGTCTCATCGAGC	0.622																																					p.R515R		.											.	INSC	94	0			c.T1545C						.						57.0	60.0	59.0					11																	15262003		2022	4177	6199	SO:0001819	synonymous_variant	387755	exon12			GTCCCGTCTCATC	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.1545T>C	11.37:g.15262003T>C		165.0	0.0		111.0	5.0	NM_001031853	A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Silent	SNP	ENST00000379554.3	37	CCDS41621.1																																																																																			.		0.622	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853	
INTS7	25896	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	212139822	212139822	+	Missense_Mutation	SNP	T	T	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr1:212139822T>A	ENST00000366994.3	-	16	2237	c.2133A>T	c.(2131-2133)ttA>ttT	p.L711F	INTS7_ENST00000366992.3_Missense_Mutation_p.L711F|INTS7_ENST00000366993.3_Missense_Mutation_p.L711F|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_Missense_Mutation_p.L662F	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	711					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GAGATATCAGTAAACAGCTCT	0.348																																					p.L711F		.											.	INTS7	90	0			c.A2133T						.						80.0	86.0	84.0					1																	212139822		2203	4300	6503	SO:0001583	missense	25896	exon16			TATCAGTAAACAG	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.2133A>T	1.37:g.212139822T>A	ENSP00000355961:p.Leu711Phe	111.0	0.0		90.0	39.0	NM_015434	B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	T	14.83	2.652261	0.47362	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.49139	0.79;0.81;0.8;0.8	4.98	-3.46	0.04767	.	0.000000	0.64402	D	0.000001	T	0.22244	0.0536	L	0.27053	0.805	0.49687	D	0.999817	B;B;B;B	0.27229	0.172;0.046;0.046;0.046	B;B;B;B	0.25291	0.04;0.04;0.04;0.059	T	0.11131	-1.0600	10	0.09843	T	0.71	-12.6108	4.9809	0.14164	0.1385:0.5431:0.1413:0.1771	.	662;711;711;711	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	F	711;711;711;662	ENSP00000355961:L711F;ENSP00000355960:L711F;ENSP00000355959:L711F;ENSP00000388908:L662F	ENSP00000355959:L711F	L	-	3	2	INTS7	210206445	0.997000	0.39634	0.994000	0.49952	0.996000	0.88848	0.448000	0.21726	-0.262000	0.09392	0.454000	0.30748	TTA	.		0.348	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434	
IRGC	56269	hgsc.bcm.edu;bcgsc.ca	37	19	44223753	44223753	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr19:44223753C>T	ENST00000244314.5	+	2	1242	c.1043C>T	c.(1042-1044)tCc>tTc	p.S348F		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	348						membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CGGCTCTATTCCCAGTCGTCC	0.672																																					p.S348F	Colon(189;350 2037 11447 13433 38914)	.											.	IRGC	70	0			c.C1043T						.						40.0	42.0	42.0					19																	44223753		2203	4300	6503	SO:0001583	missense	56269	exon2			TCTATTCCCAGTC	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.1043C>T	19.37:g.44223753C>T	ENSP00000244314:p.Ser348Phe	93.0	0.0		63.0	4.0	NM_019612	Q05BR8	Missense_Mutation	SNP	ENST00000244314.5	37	CCDS12629.1	.	.	.	.	.	.	.	.	.	.	C	7.932	0.740907	0.15642	.	.	ENSG00000124449	ENST00000244314	T	0.25912	1.77	4.67	4.67	0.58626	.	0.713966	0.12326	N	0.478873	T	0.20210	0.0486	L	0.31578	0.945	0.09310	N	1	P	0.44195	0.828	B	0.39935	0.314	T	0.08889	-1.0700	10	0.56958	D	0.05	.	10.3517	0.43939	0.1963:0.8037:0.0:0.0	.	348	Q6NXR0	IIGP5_HUMAN	F	348	ENSP00000244314:S348F	ENSP00000244314:S348F	S	+	2	0	IRGC	48915593	0.001000	0.12720	0.812000	0.32479	0.032000	0.12392	1.187000	0.32090	2.151000	0.67156	0.655000	0.94253	TCC	.		0.672	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612	
ISCA2	122961	hgsc.bcm.edu;bcgsc.ca	37	14	74960541	74960541	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr14:74960541A>G	ENST00000556816.1	+	1	119	c.64A>G	c.(64-66)Agg>Ggg	p.R22G	NPC2_ENST00000555619.1_5'Flank|NPC2_ENST00000434013.2_5'Flank|NPC2_ENST00000238633.2_5'Flank|ISCA2_ENST00000554924.1_Missense_Mutation_p.R22G|ISCA2_ENST00000298818.8_Missense_Mutation_p.R22G|NPC2_ENST00000541064.1_5'Flank|NPC2_ENST00000557510.1_5'Flank			Q86U28	ISCA2_HUMAN	iron-sulfur cluster assembly 2	22					iron-sulfur cluster assembly (GO:0016226)	mitochondrion (GO:0005739)	iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			lung(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00146)		TCCCTGGCCGAGGGGCAGGTA	0.632																																					p.R22G		.											.	ISCA2	90	0			c.A64G						.						11.0	13.0	12.0					14																	74960541		2174	4251	6425	SO:0001583	missense	122961	exon1			TGGCCGAGGGGCA		CCDS32122.1, CCDS61504.1	14q24.2	2013-08-06	2013-08-06	2007-01-18	ENSG00000165898	ENSG00000165898			19857	protein-coding gene	gene with protein product		615317	"""HesB like domain containing 1"", ""iron-sulfur cluster assembly 2 homolog (S. cerevisiae)"""	HBLD1		22323289	Standard	NM_194279		Approved	ISA2	uc001xpz.3	Q86U28		ENST00000556816.1:c.64A>G	14.37:g.74960541A>G	ENSP00000452007:p.Arg22Gly	94.0	0.0		79.0	5.0	NM_001272007	A6NFF1|A8K3W3|G3V291|Q8IYZ0|Q96BB2	Missense_Mutation	SNP	ENST00000556816.1	37	CCDS32122.1	.	.	.	.	.	.	.	.	.	.	A	13.16	2.154748	0.38021	.	.	ENSG00000165898	ENST00000556816;ENST00000298818;ENST00000554924	.	.	.	4.99	1.23	0.21249	.	1.050110	0.07419	N	0.893737	T	0.19327	0.0464	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27739	-1.0065	9	0.27785	T	0.31	0.0	0.3984	0.00422	0.4127:0.1458:0.1606:0.2809	.	22	Q86U28	ISCA2_HUMAN	G	22	.	ENSP00000298818:R22G	R	+	1	2	ISCA2	74030294	0.005000	0.15991	0.000000	0.03702	0.008000	0.06430	0.209000	0.17435	0.110000	0.17919	0.533000	0.62120	AGG	.		0.632	ISCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412354.1	NM_194279	
ISLR	3671	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	74468160	74468160	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr15:74468160G>A	ENST00000249842.3	+	2	1318	c.961G>A	c.(961-963)Gag>Aag	p.E321K	ISLR_ENST00000395118.1_Missense_Mutation_p.E321K|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	321	Ig-like.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TGGCAAGCTGGAGGAAGGCAC	0.657																																					p.E321K		.											.	ISLR	155	0			c.G961A						.						38.0	39.0	39.0					15																	74468160		2198	4296	6494	SO:0001583	missense	3671	exon2			AAGCTGGAGGAAG	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.961G>A	15.37:g.74468160G>A	ENSP00000249842:p.Glu321Lys	67.0	0.0		36.0	16.0	NM_201526		Missense_Mutation	SNP	ENST00000249842.3	37	CCDS10260.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580695	0.86748	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.67698	-0.28;-0.28	4.37	4.37	0.52481	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.152349	0.29410	U	0.012229	T	0.71888	0.3393	M	0.70275	2.135	0.52501	D	0.999956	P	0.47484	0.896	P	0.50934	0.654	T	0.75687	-0.3231	10	0.72032	D	0.01	.	10.5949	0.45331	0.0896:0.0:0.9104:0.0	.	321	O14498	ISLR_HUMAN	K	321	ENSP00000249842:E321K;ENSP00000378550:E321K	ENSP00000249842:E321K	E	+	1	0	ISLR	72255213	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.846000	0.86887	1.987000	0.57996	0.313000	0.20887	GAG	.		0.657	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545	
ITGAL	3683	hgsc.bcm.edu;bcgsc.ca	37	16	30500452	30500452	+	Silent	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr16:30500452C>T	ENST00000356798.6	+	10	1236	c.1056C>T	c.(1054-1056)agC>agT	p.S352S	ITGAL_ENST00000433423.2_Intron|RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000568012.1_3'UTR|ITGAL_ENST00000358164.5_Silent_p.S269S	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	352					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TGTCCTCCAGCGGCATCAGTG	0.597																																					p.S352S	NSCLC(110;1462 1641 3311 33990 49495)	.											.	ITGAL	994	0			c.C1056T						.						68.0	62.0	64.0					16																	30500452		2197	4300	6497	SO:0001819	synonymous_variant	3683	exon10			CTCCAGCGGCATC		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.1056C>T	16.37:g.30500452C>T		124.0	0.0		100.0	4.0	NM_002209	O43746|Q45H73|Q96HB1|Q9UBC8	Silent	SNP	ENST00000356798.6	37	CCDS32433.1																																																																																			.		0.597	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2		
ITGAX	3687	hgsc.bcm.edu;bcgsc.ca	37	16	31373480	31373480	+	Missense_Mutation	SNP	A	A	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr16:31373480A>T	ENST00000268296.4	+	11	1292	c.1171A>T	c.(1171-1173)Atc>Ttc	p.I391F	ITGAX_ENST00000562522.1_Missense_Mutation_p.I391F	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	391					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCCTACCTTCATCAACATGTC	0.582																																					p.I391F		.											.	ITGAX	229	0			c.A1171T						.						100.0	100.0	100.0					16																	31373480		2197	4300	6497	SO:0001583	missense	3687	exon11			ACCTTCATCAACA	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1171A>T	16.37:g.31373480A>T	ENSP00000268296:p.Ile391Phe	170.0	0.0		86.0	4.0	NM_000887	Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	a	18.06	3.539840	0.65085	.	.	ENSG00000140678	ENST00000268296	T	0.71698	-0.59	4.5	4.5	0.54988	.	.	.	.	.	T	0.79793	0.4507	M	0.68593	2.085	0.34780	D	0.734667	D	0.89917	1.0	D	0.91635	0.999	D	0.84522	0.0628	9	0.72032	D	0.01	.	7.0718	0.25183	0.8953:0.0:0.1047:0.0	.	391	P20702	ITAX_HUMAN	F	391	ENSP00000268296:I391F	ENSP00000268296:I391F	I	+	1	0	ITGAX	31280981	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.392000	0.34486	1.798000	0.52647	0.473000	0.43528	ATC	.		0.582	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887	
ITGB7	3695	hgsc.bcm.edu;bcgsc.ca	37	12	53586193	53586193	+	Silent	SNP	G	G	A	rs549027525		TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr12:53586193G>A	ENST00000267082.5	-	14	2307	c.2076C>T	c.(2074-2076)acC>acT	p.T692T	ITGB7_ENST00000338737.4_Silent_p.T544T|ITGB7_ENST00000422257.3_Silent_p.T692T|ITGB7_ENST00000550743.2_Silent_p.T544T	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	692					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGTTGTCCAGGGTCCGCTCTT	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		22424	0.0		0.0	False		,,,				2504	0.001				p.T692T		.											.	ITGB7	231	0			c.C2076T						.						140.0	126.0	131.0					12																	53586193		2203	4300	6503	SO:0001819	synonymous_variant	3695	exon14			GTCCAGGGTCCGC		CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"""Integrins"""	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.2076C>T	12.37:g.53586193G>A		55.0	0.0		35.0	5.0	NM_000889	Q9UCP7|Q9UCS7	Silent	SNP	ENST00000267082.5	37	CCDS8849.1																																																																																			.		0.582	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2		
JMJD6	23210	hgsc.bcm.edu;bcgsc.ca	37	17	74716510	74716510	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr17:74716510T>C	ENST00000397625.4	-	5	1126	c.1012A>G	c.(1012-1014)Ata>Gta	p.I338V	JMJD6_ENST00000585429.1_Intron|JMJD6_ENST00000445478.2_Missense_Mutation_p.I338V	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	338					cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						TCGGAAGCTATCCCTGTGGAC	0.572																																					p.I338V		.											.	JMJD6	93	0			c.A1012G						.						80.0	93.0	88.0					17																	74716510		2110	4240	6350	SO:0001583	missense	23210	exon5			AAGCTATCCCTGT	AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"""phosphatidylserine receptor"""	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.1012A>G	17.37:g.74716510T>C	ENSP00000380750:p.Ile338Val	86.0	0.0		77.0	4.0	NM_001081461	B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Missense_Mutation	SNP	ENST00000397625.4	37	CCDS42384.1	.	.	.	.	.	.	.	.	.	.	T	12.60	1.985403	0.35036	.	.	ENSG00000070495	ENST00000445478;ENST00000344991;ENST00000397625	.	.	.	5.61	5.61	0.85477	.	0.045580	0.85682	D	0.000000	T	0.43787	0.1263	N	0.25890	0.77	0.80722	D	1	B;B	0.17268	0.008;0.021	B;B	0.12156	0.006;0.007	T	0.35126	-0.9801	9	0.10902	T	0.67	-17.924	15.8611	0.79021	0.0:0.0:0.0:1.0	.	338;338	Q6NYC1;Q6NYC1-3	JMJD6_HUMAN;.	V	338	.	ENSP00000345857:I338V	I	-	1	0	JMJD6	72228105	1.000000	0.71417	0.855000	0.33649	0.907000	0.53573	5.930000	0.70104	2.145000	0.66743	0.529000	0.55759	ATA	.		0.572	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403211.1	NM_015167	
JMY	133746	hgsc.bcm.edu;bcgsc.ca	37	5	78587025	78587025	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr5:78587025T>C	ENST00000396137.4	+	4	1892	c.1430T>C	c.(1429-1431)aTg>aCg	p.M477T		NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	477					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		GCTGAACGGATGGAAAAACTC	0.393																																					p.M477T		.											.	JMY	227	0			c.T1430C						.						72.0	71.0	71.0					5																	78587025		1874	4096	5970	SO:0001583	missense	133746	exon4			AACGGATGGAAAA	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.1430T>C	5.37:g.78587025T>C	ENSP00000379441:p.Met477Thr	119.0	0.0		77.0	4.0	NM_152405	A1L4P5|B5MDS2|B5MDT0	Missense_Mutation	SNP	ENST00000396137.4	37	CCDS4047.3	.	.	.	.	.	.	.	.	.	.	T	19.35	3.811531	0.70797	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	T	0.08807	3.05	5.31	5.31	0.75309	.	0.081869	0.85682	D	0.000000	T	0.14570	0.0352	M	0.66939	2.045	0.53688	D	0.999973	P	0.47910	0.902	B	0.43301	0.415	T	0.01027	-1.1476	10	0.87932	D	0	.	15.2486	0.73526	0.0:0.0:0.0:1.0	.	477	Q8N9B5	JMY_HUMAN	T	477	ENSP00000379441:M477T	ENSP00000282259:M477T	M	+	2	0	JMY	78622781	1.000000	0.71417	0.993000	0.49108	0.824000	0.46624	7.226000	0.78060	1.999000	0.58509	0.454000	0.30748	ATG	.		0.393	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	NM_152405	
KALRN	8997	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	124385357	124385357	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr3:124385357A>G	ENST00000291478.5	+	13	1476	c.1313A>G	c.(1312-1314)gAt>gGt	p.D438G	KALRN_ENST00000393496.1_Missense_Mutation_p.D476G|KALRN_ENST00000428018.2_Missense_Mutation_p.D406G|KALRN_ENST00000360013.3_Missense_Mutation_p.D2135G|KALRN_ENST00000459915.1_Missense_Mutation_p.D227G	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2134					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATCGAGCTGGATGCAGGCATG	0.552																																					p.D2135G		.											.	KALRN	738	0			c.A6404G						.						86.0	78.0	81.0					3																	124385357		2203	4300	6503	SO:0001583	missense	8997	exon46			AGCTGGATGCAGG	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.1313A>G	3.37:g.124385357A>G	ENSP00000291478:p.Asp438Gly	121.0	0.0		95.0	5.0	NM_001024660	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	CCDS3028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.3|22.3	4.274944|4.274944	0.80580|0.80580	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000393496;ENST00000291478;ENST00000428018;ENST00000459915|ENST00000354186	T;T;T;T;T|.	0.12361|.	2.69;2.69;2.69;2.69;2.69|.	5.15|5.15	5.15|5.15	0.70609|0.70609	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74473|0.74473	0.3721|0.3721	M|M	0.75447|0.75447	2.3|2.3	0.58432|0.58432	D|D	0.999997|0.999997	B;D;D;P|.	0.76494|.	0.054;0.999;0.999;0.598|.	B;D;D;B|.	0.70935|.	0.027;0.941;0.971;0.243|.	T|T	0.75575|0.75575	-0.3270|-0.3270	10|5	0.72032|.	D|.	0.01|.	.|.	15.1548|15.1548	0.72733|0.72733	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	227;438;476;2134|.	E7EUZ8;C9JQ37;O60229-5;O60229|.	.;.;.;KALRN_HUMAN|.	G|V	2135;476;438;406;227|2104	ENSP00000353109:D2135G;ENSP00000377134:D476G;ENSP00000291478:D438G;ENSP00000402419:D406G;ENSP00000420318:D227G|.	ENSP00000291478:D438G|.	D|M	+|+	2|1	0|0	KALRN|KALRN	125868047|125868047	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.829000|0.829000	0.46940|0.46940	9.139000|9.139000	0.94554|0.94554	2.170000|2.170000	0.68504|0.68504	0.460000|0.460000	0.39030|0.39030	GAT|ATG	.		0.552	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947	
KAT6B	23522	hgsc.bcm.edu;bcgsc.ca	37	10	76788578	76788578	+	Silent	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr10:76788578T>C	ENST00000287239.4	+	18	4485	c.3996T>C	c.(3994-3996)ccT>ccC	p.P1332P	KAT6B_ENST00000372724.1_Silent_p.P1040P|KAT6B_ENST00000372711.1_Silent_p.P1149P|KAT6B_ENST00000372714.1_Silent_p.P1040P|KAT6B_ENST00000372725.1_Silent_p.P1040P	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1332					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CATGTGCCCCTGTAAGTCCAA	0.502																																					p.P1332P		.											.	.	.	0			c.T3996C						.						73.0	71.0	72.0					10																	76788578		2203	4300	6503	SO:0001819	synonymous_variant	23522	exon18			TGCCCCTGTAAGT	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.3996T>C	10.37:g.76788578T>C		114.0	0.0		103.0	5.0	NM_012330	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Silent	SNP	ENST00000287239.4	37	CCDS7345.1																																																																																			.		0.502	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330	
KCNV2	169522	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	9	2729648	2729648	+	Missense_Mutation	SNP	T	T	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr9:2729648T>G	ENST00000382082.3	+	2	1797	c.1559T>G	c.(1558-1560)tTc>tGc	p.F520C		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	520					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GAGGTGAACTTCATGCAGAGA	0.453																																					p.F520C		.											.	KCNV2	515	0			c.T1559G						.						113.0	103.0	107.0					9																	2729648		2203	4300	6503	SO:0001583	missense	169522	exon2			TGAACTTCATGCA	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.1559T>G	9.37:g.2729648T>G	ENSP00000371514:p.Phe520Cys	187.0	0.0		113.0	11.0	NM_133497	Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	37	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.352445	0.82132	.	.	ENSG00000168263	ENST00000382082	D	0.96992	-4.2	5.37	5.37	0.77165	.	1.777150	0.03575	N	0.229189	D	0.98261	0.9424	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.67725	0.953	D	0.91921	0.5547	10	0.38643	T	0.18	.	15.6629	0.77203	0.0:0.0:0.0:1.0	.	520	Q8TDN2	KCNV2_HUMAN	C	520	ENSP00000371514:F520C	ENSP00000371514:F520C	F	+	2	0	KCNV2	2719648	1.000000	0.71417	0.990000	0.47175	0.993000	0.82548	7.997000	0.88414	2.165000	0.68154	0.533000	0.62120	TTC	.		0.453	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497	
AREL1	9870	hgsc.bcm.edu;bcgsc.ca	37	14	75130431	75130431	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr14:75130431T>C	ENST00000356357.4	-	20	2979	c.2464A>G	c.(2464-2466)Atg>Gtg	p.M822V	AREL1_ENST00000557401.1_Intron	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	822	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GGTCAGAGCATGCCAAAGCCC	0.522																																					p.M822V		.											.	KIAA0317	525	0			c.A2464G						.						133.0	139.0	137.0					14																	75130431		2174	4263	6437	SO:0001583	missense	9870	exon20			AGAGCATGCCAAA	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.2464A>G	14.37:g.75130431T>C	ENSP00000348714:p.Met822Val	71.0	0.0		70.0	5.0	NM_001039479	B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	T	14.61	2.587795	0.46110	.	.	ENSG00000119682	ENST00000356357	T	0.55413	0.52	5.73	4.57	0.56435	HECT (3);	0.065915	0.85682	D	0.000000	T	0.57989	0.2091	L	0.46819	1.47	0.58432	D	0.999999	P	0.50710	0.938	P	0.53102	0.718	T	0.60449	-0.7261	10	0.72032	D	0.01	.	13.0212	0.58789	0.0:0.0:0.1347:0.8652	.	822	O15033	K0317_HUMAN	V	822	ENSP00000348714:M822V	ENSP00000348714:M822V	M	-	1	0	KIAA0317	74200184	1.000000	0.71417	1.000000	0.80357	0.274000	0.26718	4.967000	0.63722	0.981000	0.38548	-0.323000	0.08544	ATG	.		0.522	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821	
KIAA1324	57535	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	109715162	109715162	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr1:109715162C>A	ENST00000369939.3	+	5	851	c.668C>A	c.(667-669)aCc>aAc	p.T223N	KIAA1324_ENST00000529753.1_Missense_Mutation_p.T223N	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	223					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		TGGATGAAGACCACAGAGAAA	0.498																																					p.T223N		.											.	KIAA1324	157	0			c.C668A						.						78.0	75.0	76.0					1																	109715162		2203	4300	6503	SO:0001583	missense	57535	exon5			TGAAGACCACAGA	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.668C>A	1.37:g.109715162C>A	ENSP00000358955:p.Thr223Asn	236.0	0.0		153.0	63.0	NM_020775	Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	CCDS794.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964348	0.74131	.	.	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	T;T;T	0.42513	0.97;0.97;0.97	5.69	5.69	0.88448	.	0.222920	0.45867	D	0.000330	T	0.27524	0.0676	N	0.11064	0.09	0.24179	N	0.995594	D;D;D;D	0.63880	0.976;0.993;0.976;0.976	P;P;P;P	0.58520	0.84;0.753;0.84;0.794	T	0.19582	-1.0301	10	0.27785	T	0.31	-7.9859	17.586	0.87981	0.0:1.0:0.0:0.0	.	223;223;223;223	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	N	223	ENSP00000358955:T223N;ENSP00000393964:T223N;ENSP00000434595:T223N	ENSP00000358955:T223N	T	+	2	0	KIAA1324	109516685	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.872000	0.48467	2.678000	0.91216	0.650000	0.86243	ACC	.		0.498	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775	
KIAA1551	55196	hgsc.bcm.edu;bcgsc.ca	37	12	32135858	32135858	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr12:32135858A>G	ENST00000312561.4	+	4	2383	c.1969A>G	c.(1969-1971)Aca>Gca	p.T657A	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	657																	AGAATCCTCAACAAAAGGAAT	0.423																																					p.T657A		.											.	.	.	0			c.A1969G						.						68.0	65.0	66.0					12																	32135858		2203	4299	6502	SO:0001583	missense	55196	exon4			TCCTCAACAAAAG	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1969A>G	12.37:g.32135858A>G	ENSP00000310338:p.Thr657Ala	87.0	0.0		73.0	4.0	NM_018169	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	A	8.364	0.833877	0.16820	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.05258	4.15;3.47	4.99	-5.19	0.02832	.	1.410390	0.04860	N	0.443996	T	0.02929	0.0087	N	0.12182	0.205	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.44877	-0.9299	9	.	.	.	.	3.1103	0.06356	0.2884:0.1292:0.4554:0.1271	.	657	Q9HCM1	CL035_HUMAN	A	657	ENSP00000310338:T657A;ENSP00000370442:T657A	.	T	+	1	0	C12orf35	32027125	0.000000	0.05858	0.000000	0.03702	0.508000	0.34012	-1.927000	0.01561	-0.440000	0.07211	0.460000	0.39030	ACA	.		0.423	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169	
KIAA1586	57691	hgsc.bcm.edu;bcgsc.ca	37	6	56917492	56917492	+	Silent	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr6:56917492T>C	ENST00000370733.4	+	4	402	c.195T>C	c.(193-195)ttT>ttC	p.F65F	KIAA1586_ENST00000488682.1_3'UTR|KIAA1586_ENST00000545356.1_Silent_p.F38F	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	65							nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AGATTCTGTTTCCTAAAATGC	0.284																																					p.F65F		.											.	KIAA1586	44	0			c.T195C						.						34.0	39.0	37.0					6																	56917492		2196	4297	6493	SO:0001819	synonymous_variant	57691	exon4			TCTGTTTCCTAAA	AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.195T>C	6.37:g.56917492T>C		96.0	0.0		81.0	4.0	NM_020931	A8K4M3|Q8IW25	Silent	SNP	ENST00000370733.4	37	CCDS34480.1																																																																																			.		0.284	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041033.1	NM_020931	
KIAA1731	85459	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	93462654	93462654	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr11:93462654G>A	ENST00000325212.6	+	26	7519	c.7357G>A	c.(7357-7359)Gta>Ata	p.V2453I	TAF1D_ENST00000546088.1_5'Flank|SNORA25_ENST00000384384.1_RNA|KIAA1731_ENST00000411936.1_Missense_Mutation_p.V2453I|SNORA1_ENST00000384107.1_RNA|SNORA32_ENST00000384072.1_RNA|KIAA1731_ENST00000531700.1_Missense_Mutation_p.V633I|SNORD6_ENST00000365444.1_RNA|KIAA1731_ENST00000344196.4_Missense_Mutation_p.V633I|SNORA8_ENST00000384574.1_RNA			Q9C0D2	K1731_HUMAN	KIAA1731	2453						centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTATCCAGCTGTATCAGAACT	0.408																																					p.V2453I		.											.	KIAA1731	22	0			c.G7357A						.						102.0	89.0	93.0					11																	93462654		692	1591	2283	SO:0001583	missense	85459	exon26			CCAGCTGTATCAG	AB051518	CCDS44708.1	11q21	2014-03-11			ENSG00000166004	ENSG00000166004			29366	protein-coding gene	gene with protein product						20844083	Standard	NM_033395		Approved		uc009ywb.1	Q9C0D2	OTTHUMG00000167449	ENST00000325212.6:c.7357G>A	11.37:g.93462654G>A	ENSP00000316681:p.Val2453Ile	86.0	0.0		80.0	28.0	NM_033395	C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	Missense_Mutation	SNP	ENST00000325212.6	37	CCDS44708.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.280331	0.23392	.	.	ENSG00000166004	ENST00000325212;ENST00000411936;ENST00000344196;ENST00000531700;ENST00000531404	T;T	0.10382	2.88;2.89	3.49	-2.17	0.07059	.	.	.	.	.	T	0.06962	0.0177	L	0.34521	1.04	0.09310	N	1	B;B;B	0.13145	0.007;0.003;0.007	B;B;B	0.13407	0.005;0.005;0.009	T	0.37314	-0.9711	9	0.42905	T	0.14	.	3.5331	0.07784	0.467:0.0:0.3516:0.1814	.	2453;2453;633	Q9C0D2;Q9C0D2-3;Q9C0D2-2	K1731_HUMAN;.;.	I	2453;2453;633;633;465	ENSP00000316681:V2453I;ENSP00000406505:V2453I	ENSP00000316681:V2453I	V	+	1	0	KIAA1731	93102302	0.000000	0.05858	0.000000	0.03702	0.353000	0.29299	-0.275000	0.08525	-0.461000	0.06993	0.655000	0.94253	GTA	.		0.408	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000394640.1	NM_033395	
KLHL30	377007	hgsc.bcm.edu;bcgsc.ca	37	2	239056574	239056574	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr2:239056574C>T	ENST00000409223.1	+	6	1357	c.1250C>T	c.(1249-1251)gCt>gTt	p.A417V	KLHL30_ENST00000305959.4_Missense_Mutation_p.A399V			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	417										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		AACTTCTCGGCTGCCGGCTGC	0.672																																					p.A417V		.											.	KLHL30	22	0			c.C1250T						.						14.0	19.0	17.0					2																	239056574		1870	4091	5961	SO:0001583	missense	377007	exon6			TCTCGGCTGCCGG		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.1250C>T	2.37:g.239056574C>T	ENSP00000386389:p.Ala417Val	95.0	0.0		76.0	4.0	NM_198582	Q6ZUS1	Missense_Mutation	SNP	ENST00000409223.1	37	CCDS46555.2	.	.	.	.	.	.	.	.	.	.	c	9.475	1.096539	0.20552	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.67865	-0.29;-0.29	3.89	3.01	0.34805	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.43188	0.1236	N	0.20881	0.62	0.39544	D	0.968868	B	0.14438	0.01	B	0.12837	0.008	T	0.31447	-0.9943	10	0.02654	T	1	.	7.611	0.28131	0.0:0.7907:0.0:0.2093	.	417	Q0D2K2	KLH30_HUMAN	V	417;399	ENSP00000386389:A417V;ENSP00000302386:A399V	ENSP00000302386:A399V	A	+	2	0	KLHL30	238721313	0.997000	0.39634	0.130000	0.21974	0.565000	0.35776	3.537000	0.53590	0.864000	0.35578	0.651000	0.88453	GCT	.		0.672	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582	
KMO	8564	hgsc.bcm.edu;bcgsc.ca	37	1	241718930	241718930	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr1:241718930A>G	ENST00000366559.4	+	5	642	c.331A>G	c.(331-333)Aga>Gga	p.R111G	KMO_ENST00000366557.4_Missense_Mutation_p.R111G|KMO_ENST00000366558.3_Missense_Mutation_p.R111G|KMO_ENST00000484628.1_3'UTR	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)											NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			TTCTGTAAGCAGAGAAAATCT	0.313																																					p.R111G		.											.	KMO	92	0			c.A331G						.						91.0	93.0	92.0					1																	241718930		2202	4298	6500	SO:0001583	missense	8564	exon5			GTAAGCAGAGAAA	AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.331A>G	1.37:g.241718930A>G	ENSP00000355517:p.Arg111Gly	94.0	0.0		84.0	4.0	NM_003679		Missense_Mutation	SNP	ENST00000366559.4	37	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	A	19.66	3.869480	0.72065	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.51071	0.72;0.72;0.72	5.54	5.54	0.83059	Monooxygenase, FAD-binding (1);	0.000000	0.85682	D	0.000000	T	0.79317	0.4425	H	0.97465	4.01	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	D	0.86406	0.1745	10	0.87932	D	0	.	13.6034	0.62033	1.0:0.0:0.0:0.0	.	111;111;111	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	G	111	ENSP00000355517:R111G;ENSP00000355516:R111G;ENSP00000355515:R111G	ENSP00000355515:R111G	R	+	1	2	KMO	239785553	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.383000	0.66219	2.093000	0.63338	0.482000	0.46254	AGA	.		0.313	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	NM_003679	
KSR2	283455	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	12	117969500	117969500	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr12:117969500T>C	ENST00000339824.5	-	11	2427	c.1700A>G	c.(1699-1701)tAc>tGc	p.Y567C	KSR2_ENST00000302438.5_Missense_Mutation_p.Y264C|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000425217.1_Missense_Mutation_p.Y538C			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	567					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTTGTATTTGTAGTAGTGGGA	0.502																																					p.Y538C		.											.	KSR2	1449	0			c.A1613G						.						95.0	100.0	99.0					12																	117969500		1993	4160	6153	SO:0001583	missense	283455	exon11			TATTTGTAGTAGT	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1700A>G	12.37:g.117969500T>C	ENSP00000339952:p.Tyr567Cys	68.0	0.0		40.0	4.0	NM_173598	A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37		.	.	.	.	.	.	.	.	.	.	T	16.14	3.039148	0.55003	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;D	0.85955	-1.17;-1.17;-2.05	4.66	4.66	0.58398	.	0.059761	0.64402	D	0.000001	D	0.82577	0.5067	L	0.44542	1.39	0.49798	D	0.999824	P	0.50710	0.938	P	0.46049	0.502	T	0.83154	-0.0102	10	0.42905	T	0.14	.	14.2572	0.66060	0.0:0.0:0.0:1.0	.	567	Q6VAB6	KSR2_HUMAN	C	538;567;264;239	ENSP00000389715:Y538C;ENSP00000339952:Y567C;ENSP00000305466:Y264C	ENSP00000305466:Y264C	Y	-	2	0	KSR2	116453883	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.691000	0.47010	1.934000	0.56057	0.402000	0.26972	TAC	.		0.502	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598	
LAMP5	24141	hgsc.bcm.edu;bcgsc.ca	37	20	9496099	9496099	+	Splice_Site	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr20:9496099G>T	ENST00000246070.2	+	2	556		c.e2-1		RP5-1119D9.4_ENST00000443469.1_RNA|LAMP5_ENST00000427562.2_Splice_Site	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5							cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)											TTGTTCCGCAGATACAATGGC	0.493																																					.		.											.	.	.	0			c.65-1G>T						.						89.0	85.0	86.0					20																	9496099		2203	4300	6503	SO:0001630	splice_region_variant	24141	exon2			TCCGCAGATACAA	AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"""brain and dendritic cell associated LAMP"""	614641	"""chromosome 20 open reading frame 103"""	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.65-1G>T	20.37:g.9496099G>T		73.0	0.0		97.0	6.0	NM_001199897	B4DHZ7|B7Z9Z9	Splice_Site	SNP	ENST00000246070.2	37	CCDS13106.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.766937	0.69878	.	.	ENSG00000125869	ENST00000246070;ENST00000427562	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7362	0.96205	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C20orf103	9444099	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	7.620000	0.83070	2.678000	0.91216	0.655000	0.94253	.	.		0.493	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077946.2	NM_012261	Intron
LANCL2	55915	ucsc.edu;bcgsc.ca	37	7	55459529	55459529	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr7:55459529A>G	ENST00000254770.2	+	2	826	c.248A>G	c.(247-249)gAt>gGt	p.D83G		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	83					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			AAAATTAAAGATCTTCTGCAG	0.423																																					p.D83G		.											.	LANCL2	516	0			c.A248G						.						89.0	88.0	88.0					7																	55459529		2203	4300	6503	SO:0001583	missense	55915	exon2			TTAAAGATCTTCT	AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"""testis-specific adriamycin sensitivity protein"", ""G protein-coupled receptor 69B"""	612919	"""LanC (bacterial lantibiotic synthetase component C)-like 2"""	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.248A>G	7.37:g.55459529A>G	ENSP00000254770:p.Asp83Gly	36.0	0.0		48.0	4.0	NM_018697	B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Missense_Mutation	SNP	ENST00000254770.2	37	CCDS5517.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.448643	0.84101	.	.	ENSG00000132434	ENST00000254770	T	0.41400	1.0	5.79	5.79	0.91817	Six-hairpin glycosidase-like (1);	0.044716	0.85682	D	0.000000	T	0.40522	0.1120	L	0.55834	1.745	0.58432	D	0.999999	B	0.21225	0.053	B	0.19946	0.027	T	0.17684	-1.0361	10	0.30078	T	0.28	.	14.9326	0.70929	1.0:0.0:0.0:0.0	.	83	Q9NS86	LANC2_HUMAN	G	83	ENSP00000254770:D83G	ENSP00000254770:D83G	D	+	2	0	LANCL2	55427023	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.656000	0.91102	2.201000	0.70794	0.533000	0.62120	GAT	.		0.423	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251459.1	NM_018697	
LAS1L	81887	hgsc.bcm.edu;bcgsc.ca	37	X	64744928	64744928	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chrX:64744928T>C	ENST00000374811.3	-	8	999	c.959A>G	c.(958-960)gAg>gGg	p.E320G	LAS1L_ENST00000374807.5_Missense_Mutation_p.E320G|LAS1L_ENST00000374804.5_Missense_Mutation_p.E278G|LAS1L_ENST00000312391.8_Silent_p.G283G	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	320					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						CAGCACAGCCTCCCTGGAACA	0.512																																					p.E320G		.											.	LAS1L	196	0			c.A959G						.						101.0	77.0	85.0					X																	64744928		2203	4300	6503	SO:0001583	missense	81887	exon8			ACAGCCTCCCTGG	BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.959A>G	X.37:g.64744928T>C	ENSP00000363944:p.Glu320Gly	54.0	0.0		65.0	4.0	NM_031206	A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	ENST00000374811.3	37	CCDS14381.1	.	.	.	.	.	.	.	.	.	.	T	8.332	0.826680	0.16749	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804	.	.	.	5.35	2.85	0.33270	.	0.742114	0.12835	N	0.435334	T	0.27629	0.0679	L	0.38175	1.15	0.28833	N	0.89703	B;B;B	0.19583	0.001;0.037;0.006	B;B;B	0.15052	0.005;0.012;0.004	T	0.10776	-1.0615	8	.	.	.	.	4.2525	0.10702	0.0:0.1073:0.2042:0.6885	.	278;320;320	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2	.;.;LAS1L_HUMAN	G	320;320;278	.	.	E	-	2	0	LAS1L	64661653	0.456000	0.25744	0.989000	0.46669	0.953000	0.61014	0.464000	0.21988	1.785000	0.52413	0.486000	0.48141	GAG	.		0.512	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206	
LFNG	3955	hgsc.bcm.edu;bcgsc.ca	37	7	2552813	2552813	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr7:2552813A>G	ENST00000402506.1	+	2	196	c.70A>G	c.(70-72)Agc>Ggc	p.S24G		NM_001166355.1	NP_001159827.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	0					compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		CTGGGCATGGAGCAAATGCTC	0.542																																					p.S24G		.											.	LFNG	636	0			c.A70G						.						150.0	138.0	141.0					7																	2552813		1568	3582	5150	SO:0001583	missense	3955	exon2			GCATGGAGCAAAT	BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"""Beta 3-glycosyltransferases"""	6560	protein-coding gene	gene with protein product		602576	"""lunatic fringe (Drosophila) homolog"", ""lunatic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000402506.1:c.70A>G	7.37:g.2552813A>G	ENSP00000385764:p.Ser24Gly	140.0	0.0		98.0	4.0	NM_001166355	B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Missense_Mutation	SNP	ENST00000402506.1	37	CCDS55081.1	.	.	.	.	.	.	.	.	.	.	A	10.57	1.386861	0.25031	.	.	ENSG00000106003	ENST00000402506	T	0.56275	0.47	2.87	-5.74	0.02391	.	.	.	.	.	T	0.23330	0.0564	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.15954	-1.0419	7	0.30078	T	0.28	.	3.2979	0.06973	0.231:0.0:0.2547:0.5143	.	.	.	.	G	24	ENSP00000385764:S24G	ENSP00000385764:S24G	S	+	1	0	LFNG	2519339	0.013000	0.17824	0.000000	0.03702	0.010000	0.07245	0.353000	0.20130	-0.999000	0.03442	-0.415000	0.06103	AGC	.		0.542	LFNG-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000325023.1	NM_002304	
LGI3	203190	hgsc.bcm.edu;bcgsc.ca	37	8	22012911	22012911	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr8:22012911T>C	ENST00000306317.2	-	2	561	c.272A>G	c.(271-273)cAg>cGg	p.Q91R	LGI3_ENST00000424267.2_Missense_Mutation_p.Q91R	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	91					exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)			endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		ATACAAGAACTGCAGCAGCGG	0.607																																					p.Q91R		.											.	LGI3	91	0			c.A272G						.						162.0	157.0	158.0					8																	22012911		2203	4300	6503	SO:0001583	missense	203190	exon2			AAGAACTGCAGCA	AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.272A>G	8.37:g.22012911T>C	ENSP00000302297:p.Gln91Arg	113.0	0.0		32.0	4.0	NM_139278	A5PLP2|Q86TL4|Q8N296	Missense_Mutation	SNP	ENST00000306317.2	37	CCDS6025.1	.	.	.	.	.	.	.	.	.	.	T	15.76	2.929034	0.52759	.	.	ENSG00000168481	ENST00000306317;ENST00000424267;ENST00000517694	T;T;D	0.89810	0.35;0.51;-2.57	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.88822	0.6541	N	0.20445	0.575	0.50467	D	0.999871	D;B	0.59357	0.985;0.192	D;B	0.71414	0.973;0.052	D	0.88685	0.3205	10	0.44086	T	0.13	-27.5892	11.6456	0.51259	0.0:0.0:0.0:1.0	.	91;91	A5PLP2;Q8N145	.;LGI3_HUMAN	R	91;91;52	ENSP00000302297:Q91R;ENSP00000399121:Q91R;ENSP00000427817:Q52R	ENSP00000302297:Q91R	Q	-	2	0	LGI3	22068856	1.000000	0.71417	1.000000	0.80357	0.233000	0.25261	6.856000	0.75450	2.056000	0.61249	0.528000	0.53228	CAG	.		0.607	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254482.1		
LGR5	8549	hgsc.bcm.edu;bcgsc.ca	37	12	71955573	71955573	+	Silent	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr12:71955573C>T	ENST00000266674.5	+	8	1109	c.798C>T	c.(796-798)agC>agT	p.S266S	LGR5_ENST00000540815.2_Intron|LGR5_ENST00000536515.1_Silent_p.S194S			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	266					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GATTTCATAGCAACAATATCA	0.373																																					p.S266S		.											.	LGR5	527	0			c.C798T						.						71.0	63.0	66.0					12																	71955573		2203	4300	6503	SO:0001819	synonymous_variant	8549	exon8			TCATAGCAACAAT	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.798C>T	12.37:g.71955573C>T		81.0	0.0		59.0	3.0	NM_003667	D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Silent	SNP	ENST00000266674.5	37	CCDS9000.1																																																																																			.		0.373	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667	
LIPC	3990	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	58840664	58840664	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr15:58840664G>A	ENST00000356113.6	+	8	1559	c.944G>A	c.(943-945)aGc>aAc	p.S315N	LIPC_ENST00000433326.2_Missense_Mutation_p.S254N|LIPC_ENST00000414170.3_Missense_Mutation_p.S315N|LIPC_ENST00000299022.5_Missense_Mutation_p.S315N			P11150	LIPC_HUMAN	lipase, hepatic	315					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		CTGTGCCTGAGCTGCAAGAAG	0.642																																					p.S315N		.											.	LIPC	91	0			c.G944A						.						39.0	34.0	36.0					15																	58840664		2192	4292	6484	SO:0001583	missense	3990	exon6			GCCTGAGCTGCAA		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.944G>A	15.37:g.58840664G>A	ENSP00000348425:p.Ser315Asn	172.0	0.0		135.0	64.0	NM_000236	A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP	ENST00000356113.6	37	CCDS10166.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858592	0.51376	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022;ENST00000433326	D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83	5.18	-0.204	0.13200	Lipase, N-terminal (1);	0.368824	0.34291	N	0.004091	D	0.86041	0.5838	M	0.62209	1.925	0.39169	D	0.96255	B;B	0.20368	0.044;0.005	B;B	0.21151	0.033;0.015	T	0.77882	-0.2422	10	0.54805	T	0.06	.	6.9254	0.24412	0.2676:0.1146:0.6178:0.0	.	254;315	E7EUK6;P11150	.;LIPC_HUMAN	N	315;315;315;254	ENSP00000348425:S315N;ENSP00000395569:S315N;ENSP00000299022:S315N;ENSP00000395002:S254N	ENSP00000299022:S315N	S	+	2	0	LIPC	56627956	1.000000	0.71417	0.979000	0.43373	0.914000	0.54420	1.140000	0.31516	0.047000	0.15862	0.655000	0.94253	AGC	.		0.642	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1		
LPHN1	22859	hgsc.bcm.edu;bcgsc.ca	37	19	14274128	14274128	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr19:14274128G>T	ENST00000340736.6	-	6	797	c.500C>A	c.(499-501)cCg>cAg	p.P167Q	CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000591528.1_5'UTR|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.P162Q	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	167	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGCCTGCAGCGGGTCCTTGCA	0.652																																					p.P167Q		.											.	LPHN1	523	0			c.C500A						.						41.0	34.0	36.0					19																	14274128		2202	4300	6502	SO:0001583	missense	22859	exon6			TGCAGCGGGTCCT	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.500C>A	19.37:g.14274128G>T	ENSP00000340688:p.Pro167Gln	134.0	0.0		77.0	4.0	NM_001008701	Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549032	0.86127	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	D;D	0.89810	-2.57;-2.57	5.06	5.06	0.68205	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.95698	0.8601	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.96704	0.9520	10	0.87932	D	0	.	15.9461	0.79796	0.0:0.0:1.0:0.0	.	162;167	O94910-2;O94910	.;LPHN1_HUMAN	Q	167;162	ENSP00000340688:P167Q;ENSP00000355328:P162Q	ENSP00000340688:P167Q	P	-	2	0	LPHN1	14135128	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	9.783000	0.99037	2.347000	0.79759	0.655000	0.94253	CCG	.		0.652	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921	
LRRN1	57633	hgsc.bcm.edu;bcgsc.ca	37	3	3887042	3887042	+	Silent	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr3:3887042T>C	ENST00000319331.3	+	2	1478	c.717T>C	c.(715-717)gaT>gaC	p.D239D	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	239						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TGGGTCTGGATAGCCTTGAGA	0.393																																					p.D239D		.											.	LRRN1	90	0			c.T717C						.						101.0	107.0	105.0					3																	3887042		2203	4300	6503	SO:0001819	synonymous_variant	57633	exon2			TCTGGATAGCCTT	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.717T>C	3.37:g.3887042T>C		79.0	0.0		66.0	4.0	NM_020873	Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Silent	SNP	ENST00000319331.3	37	CCDS33685.1																																																																																			.		0.393	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873	
LRRTM3	347731	hgsc.bcm.edu;bcgsc.ca	37	10	68857536	68857536	+	Missense_Mutation	SNP	T	T	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr10:68857536T>A	ENST00000361320.4	+	3	2306	c.1728T>A	c.(1726-1728)caT>caA	p.H576Q	CTNNA3_ENST00000373744.4_Intron|LRRTM3_ENST00000485868.1_3'UTR|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	576					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TCAGTGACCATAAACAGCAGC	0.458																																					p.H576Q		.											.	LRRTM3	93	0			c.T1728A						.						125.0	108.0	114.0					10																	68857536		2203	4300	6503	SO:0001583	missense	347731	exon3			TGACCATAAACAG	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.1728T>A	10.37:g.68857536T>A	ENSP00000355187:p.His576Gln	93.0	0.0		91.0	4.0	NM_178011	A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	T	12.88	2.069775	0.36566	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.41758	0.99	5.62	3.26	0.37387	.	0.000000	0.49305	D	0.000149	T	0.21145	0.0509	N	0.08118	0	0.29259	N	0.871486	B	0.17852	0.024	B	0.06405	0.002	T	0.12630	-1.0540	10	0.87932	D	0	.	7.2321	0.26049	0.0:0.235:0.0:0.7649	.	576	Q86VH5	LRRT3_HUMAN	Q	576	ENSP00000355187:H576Q	ENSP00000355187:H576Q	H	+	3	2	LRRTM3	68527542	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.183000	0.16919	1.074000	0.40909	0.528000	0.53228	CAT	.		0.458	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011	
LUC7L3	51747	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	48823914	48823914	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr17:48823914G>A	ENST00000505658.1	+	9	1178	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	LUC7L3_ENST00000544170.1_Missense_Mutation_p.R254Q|LUC7L3_ENST00000240304.1_Missense_Mutation_p.R330Q|LUC7L3_ENST00000393227.2_Missense_Mutation_p.R330Q			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	330	Arg/Ser-rich.				mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AGTAGAGATCGACGAAGAAGC	0.388																																					p.R330Q		.											.	LUC7L3	90	0			c.G989A						.						78.0	83.0	81.0					17																	48823914		2203	4300	6503	SO:0001583	missense	51747	exon9			GAGATCGACGAAG		CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"""cisplatin resistance associated overexpressed protein"", ""CRE-associated protein"""	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.989G>A	17.37:g.48823914G>A	ENSP00000425092:p.Arg330Gln	322.0	1.0		336.0	179.0	NM_006107	B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Missense_Mutation	SNP	ENST00000505658.1	37	CCDS11573.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.902268	0.52227	.	.	ENSG00000108848	ENST00000505658;ENST00000393227;ENST00000240304;ENST00000544170	T;T;T;T	0.35048	1.33;1.33;1.33;1.43	5.79	4.83	0.62350	.	0.129696	0.51477	D	0.000097	T	0.37732	0.1014	M	0.63843	1.955	0.58432	D	0.999999	B;B;B	0.21147	0.016;0.052;0.029	B;B;B	0.08055	0.002;0.003;0.002	T	0.19224	-1.0312	10	0.48119	T	0.1	-0.5247	15.1117	0.72362	0.0676:0.0:0.9324:0.0	.	254;330;330	B4DJ96;O95232;A8K3C5	.;LC7L3_HUMAN;.	Q	330;330;330;254	ENSP00000425092:R330Q;ENSP00000376919:R330Q;ENSP00000240304:R330Q;ENSP00000444253:R254Q	ENSP00000240304:R330Q	R	+	2	0	LUC7L3	46178913	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	8.950000	0.93019	1.467000	0.48044	-0.119000	0.15052	CGA	.		0.388	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368205.2	NM_016424	
MACF1	23499	hgsc.bcm.edu;bcgsc.ca	37	1	39816575	39816575	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr1:39816575G>T	ENST00000372915.3	+	42	11186	c.11099G>T	c.(11098-11100)cGg>cTg	p.R3700L	MACF1_ENST00000317713.7_Missense_Mutation_p.R1633L|MACF1_ENST00000564288.1_Missense_Mutation_p.R3695L|MACF1_ENST00000545844.1_Missense_Mutation_p.R1633L|MACF1_ENST00000361689.2_Missense_Mutation_p.R1633L|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.R1633L|MACF1_ENST00000289893.4_Missense_Mutation_p.R2135L|MACF1_ENST00000567887.1_Missense_Mutation_p.R3732L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3700					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACAGCTCTTCGGGAAAAGCTT	0.532																																					p.R1633L		.											.	MACF1	165	0			c.G4898T						.						87.0	83.0	84.0					1																	39816575		2203	4300	6503	SO:0001583	missense	23499	exon39			CTCTTCGGGAAAA	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.11099G>T	1.37:g.39816575G>T	ENSP00000362006:p.Arg3700Leu	90.0	0.0		51.0	5.0	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	G	15.29	2.789068	0.49997	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000530262;ENST00000289893	T;T;T;T;T;T;T	0.62105	1.28;0.05;1.28;1.28;1.28;1.28;1.1	6.06	-6.09	0.02145	.	0.634882	0.14357	N	0.324734	T	0.59459	0.2195	L	0.51422	1.61	0.38205	D	0.940317	P;P;P;B	0.49862	0.474;0.862;0.929;0.009	B;P;B;B	0.49451	0.166;0.611;0.411;0.021	T	0.66810	-0.5829	10	0.23302	T	0.38	.	17.7482	0.88427	0.7216:0.0:0.2784:0.0	.	3700;1633;1633;1598	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3	MACF1_HUMAN;.;.;.	L	1633;3700;1633;1633;1633;1782;2135	ENSP00000439537:R1633L;ENSP00000362006:R3700L;ENSP00000354573:R1633L;ENSP00000313438:R1633L;ENSP00000444364:R1633L;ENSP00000437059:R1782L;ENSP00000289893:R2135L	ENSP00000289893:R2135L	R	+	2	0	MACF1	39589162	0.240000	0.23847	0.129000	0.21949	0.899000	0.52679	0.087000	0.14958	-1.783000	0.01274	-0.781000	0.03364	CGG	.		0.532	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
MAP1S	55201	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	19	17837556	17837556	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr19:17837556C>T	ENST00000324096.4	+	5	1514	c.1363C>T	c.(1363-1365)Cga>Tga	p.R455*	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Nonsense_Mutation_p.R429*|MAP1S_ENST00000597681.1_Intron	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	455	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GAGGTTCCTGCGAGAGCCCGT	0.721																																					p.R455X		.											.	MAP1S	90	0			c.C1363T						.						4.0	5.0	4.0					19																	17837556		2014	4009	6023	SO:0001587	stop_gained	55201	exon5			TTCCTGCGAGAGC	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.1363C>T	19.37:g.17837556C>T	ENSP00000325313:p.Arg455*	49.0	0.0		46.0	10.0	NM_018174	B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Nonsense_Mutation	SNP	ENST00000324096.4	37	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929511	0.92389	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	.	.	.	3.88	3.88	0.44766	.	0.000000	0.44097	D	0.000494	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2846	8.9029	0.35505	0.2231:0.7769:0.0:0.0	.	.	.	.	X	455;429	.	ENSP00000325313:R455X	R	+	1	2	MAP1S	17698556	0.890000	0.30428	0.071000	0.20095	0.110000	0.19582	1.758000	0.38410	1.700000	0.51204	0.491000	0.48974	CGA	.		0.721	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174	
MAP3K5	4217	hgsc.bcm.edu;bcgsc.ca	37	6	136882716	136882716	+	Silent	SNP	G	G	T	rs371929460		TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr6:136882716G>T	ENST00000359015.4	-	28	4302	c.3942C>A	c.(3940-3942)acC>acA	p.T1314T	MAP3K5_ENST00000355845.4_Silent_p.T561T	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1314			T -> I (in dbSNP:rs45599539). {ECO:0000269|PubMed:17344846}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TCAGCCAGTCGGTAAGTTCAG	0.373																																					p.T1314T		.											.	MAP3K5	982	0			c.C3942A						.						94.0	93.0	93.0					6																	136882716		2203	4300	6503	SO:0001819	synonymous_variant	4217	exon28			CCAGTCGGTAAGT	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.3942C>A	6.37:g.136882716G>T		218.0	0.0		128.0	9.0	NM_005923	A6NIA0|B4DGB2|Q5THN3|Q99461	Silent	SNP	ENST00000359015.4	37	CCDS5179.1																																																																																			.		0.373	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1		
MCM10	55388	hgsc.bcm.edu;bcgsc.ca	37	10	13212949	13212949	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr10:13212949C>T	ENST00000484800.2	+	3	138	c.35C>T	c.(34-36)aCc>aTc	p.T12I	MCM10_ENST00000378694.1_Missense_Mutation_p.T12I|MCM10_ENST00000378714.3_Missense_Mutation_p.T12I			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	12	N-terminal domain. {ECO:0000250}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TCTCTGCTGACCGCACTGCTG	0.438																																					p.T12I		.											.	MCM10	653	0			c.C35T						.						68.0	70.0	69.0					10																	13212949		2203	4300	6503	SO:0001583	missense	55388	exon3			TGCTGACCGCACT	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.35C>T	10.37:g.13212949C>T	ENSP00000418268:p.Thr12Ile	138.0	0.0		121.0	5.0	NM_018518	A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	ENST00000484800.2	37	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.718569	0.68844	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.19105	2.19;2.18;2.17	5.91	5.91	0.95273	.	0.263978	0.42682	D	0.000671	T	0.33177	0.0854	M	0.64997	1.995	0.45914	D	0.998755	D;D;D	0.58970	0.973;0.984;0.973	P;P;P	0.51266	0.463;0.664;0.463	T	0.00984	-1.1491	10	0.32370	T	0.25	0.7561	15.43	0.75084	0.0:0.9322:0.0:0.0678	.	12;12;12	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	I	12	ENSP00000367986:T12I;ENSP00000418268:T12I;ENSP00000367966:T12I	ENSP00000354945:T12I	T	+	2	0	MCM10	13252955	0.999000	0.42202	0.990000	0.47175	0.936000	0.57629	4.445000	0.60007	2.793000	0.96121	0.655000	0.94253	ACC	.		0.438	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751	
MCM2	4171	hgsc.bcm.edu;bcgsc.ca	37	3	127325501	127325501	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr3:127325501C>A	ENST00000265056.7	+	6	1186	c.942C>A	c.(940-942)agC>agA	p.S314R		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	314					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						TGGTGACCAGCTGCACTGGCG	0.607																																					p.S314R		.											.	MCM2	230	0			c.C942A						.						77.0	71.0	73.0					3																	127325501		2203	4300	6503	SO:0001583	missense	4171	exon6			GACCAGCTGCACT	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.942C>A	3.37:g.127325501C>A	ENSP00000265056:p.Ser314Arg	84.0	0.0		57.0	4.0	NM_004526	Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	CCDS3043.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.367|4.367	0.067726|0.067726	0.08436|0.08436	.|.	.|.	ENSG00000073111|ENSG00000073111	ENST00000491422|ENST00000265056;ENST00000539922;ENST00000543142	.|T	.|0.02631	.|4.22	4.99|4.99	4.12|4.12	0.48240|0.48240	.|Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.|0.078244	.|0.85682	.|D	.|0.000000	T|T	0.01940|0.01940	0.0061|0.0061	N|N	0.16098|0.16098	0.37|0.37	0.58432|0.58432	D|D	0.999991|0.999991	.|P;B;B	.|0.49559	.|0.925;0.001;0.003	.|P;B;B	.|0.44990	.|0.466;0.015;0.009	T|T	0.53258|0.53258	-0.8464|-0.8464	5|10	.|0.02654	.|T	.|1	-41.6488|-41.6488	7.9871|7.9871	0.30218|0.30218	0.0:0.7367:0.0:0.2633|0.0:0.7367:0.0:0.2633	.|.	.|295;184;314	.|F5H1E9;B4DSV5;P49736	.|.;.;MCM2_HUMAN	D|R	177|314;218;295	.|ENSP00000265056:S314R	.|ENSP00000265056:S314R	A|S	+|+	2|3	0|2	MCM2|MCM2	128808191|128808191	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	2.255000|2.255000	0.43222|0.43222	1.087000|1.087000	0.41251|0.41251	0.585000|0.585000	0.79938|0.79938	GCT|AGC	.		0.607	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1		
MCTP1	79772	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	94245051	94245051	+	Silent	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr5:94245051T>C	ENST00000515393.1	-	10	1556	c.1557A>G	c.(1555-1557)gaA>gaG	p.E519E	MCTP1_ENST00000312216.8_Silent_p.E298E|MCTP1_ENST00000429576.2_Silent_p.E252E|MCTP1_ENST00000505078.1_Silent_p.E35E|MCTP1_ENST00000505208.1_Silent_p.E298E	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	519	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AATCAAATTGTTCCCTCCACT	0.368																																					p.E519E		.											.	MCTP1	92	0			c.A1557G						.						80.0	78.0	79.0					5																	94245051		2203	4300	6503	SO:0001819	synonymous_variant	79772	exon10			AAATTGTTCCCTC		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.1557A>G	5.37:g.94245051T>C		175.0	0.0		105.0	6.0	NM_024717	Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Silent	SNP	ENST00000515393.1	37	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	T	9.049	0.991491	0.18966	.	.	ENSG00000175471	ENST00000503301	.	.	.	5.68	3.35	0.38373	.	.	.	.	.	T	0.55768	0.1941	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50634	-0.8805	4	.	.	.	-20.4283	6.8803	0.24168	0.0:0.3275:0.0:0.6725	.	.	.	.	A	282	.	.	T	-	1	0	MCTP1	94270807	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.993000	0.29680	1.003000	0.39130	0.477000	0.44152	ACA	.		0.368	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717	
MED14	9282	hgsc.bcm.edu;bcgsc.ca	37	X	40522223	40522223	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chrX:40522223G>A	ENST00000324817.1	-	26	3756	c.3638C>T	c.(3637-3639)tCa>tTa	p.S1213L		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1213					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CATGATGACTGATCCAAGGAA	0.443																																					p.S1213L		.											.	MED14	289	0			c.C3638T						.						82.0	66.0	71.0					X																	40522223		2203	4300	6503	SO:0001583	missense	9282	exon26			ATGACTGATCCAA	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.3638C>T	X.37:g.40522223G>A	ENSP00000323720:p.Ser1213Leu	115.0	0.0		95.0	4.0	NM_004229	Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	G	31	5.086900	0.94100	.	.	ENSG00000180182	ENST00000324817;ENST00000433003	T;T	0.57273	0.41;0.41	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.56963	0.2021	L	0.58101	1.795	0.80722	D	1	P;P	0.47762	0.9;0.9	P;P	0.44518	0.452;0.452	T	0.62534	-0.6834	10	0.66056	D	0.02	.	18.6702	0.91508	0.0:0.0:1.0:0.0	.	1213;1213	A8KAK5;O60244	.;MED14_HUMAN	L	1213;112	ENSP00000323720:S1213L;ENSP00000411357:S112L	ENSP00000323720:S1213L	S	-	2	0	MED14	40407167	1.000000	0.71417	0.977000	0.42913	0.997000	0.91878	9.476000	0.97823	2.353000	0.79882	0.529000	0.55759	TCA	.		0.443	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229	
MEP1B	4225	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	29788190	29788190	+	Missense_Mutation	SNP	C	C	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr18:29788190C>G	ENST00000269202.6	+	9	922	c.875C>G	c.(874-876)cCc>cGc	p.P292R	MEP1B_ENST00000581447.1_Missense_Mutation_p.P292R	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	292	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TCACAGGTTCCCAGGGGGCCA	0.478																																					p.P292R		.											.	MEP1B	92	0			c.C875G						.						97.0	99.0	98.0					18																	29788190		1912	4120	6032	SO:0001583	missense	4225	exon9			AGGTTCCCAGGGG	X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.875C>G	18.37:g.29788190C>G	ENSP00000269202:p.Pro292Arg	154.0	0.0		99.0	27.0	NM_005925	B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	ENST00000269202.6	37	CCDS45846.1	.	.	.	.	.	.	.	.	.	.	C	8.990	0.977567	0.18812	.	.	ENSG00000141434	ENST00000269202	T	0.02050	4.48	5.48	3.67	0.42095	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.773265	0.12702	N	0.446244	T	0.04272	0.0118	L	0.46157	1.445	0.09310	N	1	P	0.34615	0.459	B	0.43103	0.408	T	0.42137	-0.9469	10	0.19147	T	0.46	-0.6288	11.9111	0.52739	0.0:0.8567:0.0:0.1433	.	292	Q16820	MEP1B_HUMAN	R	292	ENSP00000269202:P292R	ENSP00000269202:P292R	P	+	2	0	MEP1B	28042188	0.000000	0.05858	0.001000	0.08648	0.541000	0.35023	1.154000	0.31688	1.308000	0.44962	0.561000	0.74099	CCC	.		0.478	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925	
MID1	4281	hgsc.bcm.edu;bcgsc.ca	37	X	10437803	10437803	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chrX:10437803C>T	ENST00000317552.4	-	7	1619	c.1219G>A	c.(1219-1221)Gat>Aat	p.D407N	MID1_ENST00000380785.1_Missense_Mutation_p.D407N|MID1_ENST00000380787.1_Missense_Mutation_p.D407N|MID1_ENST00000453318.2_Missense_Mutation_p.D407N|MID1_ENST00000380782.2_Missense_Mutation_p.D407N|MID1_ENST00000380779.1_Missense_Mutation_p.D407N|MID1_ENST00000380780.1_Missense_Mutation_p.D407N	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	407	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						CTGAACTCATCATCGGAGGTC	0.483																																					p.D458N		.											.	MID1	229	0			c.G1372A						.						173.0	139.0	150.0					X																	10437803		2203	4300	6503	SO:0001583	missense	4281	exon7			ACTCATCATCGGA	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1219G>A	X.37:g.10437803C>T	ENSP00000312678:p.Asp407Asn	89.0	0.0		85.0	4.0	NM_001193278	B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	37	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	C	35	5.518155	0.96416	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000454373;ENST00000413894	T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.9	5.9	0.94986	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.59649	0.2209	L	0.59436	1.845	0.80722	D	1	D;D;P	0.54397	0.966;0.966;0.847	D;D;P	0.68039	0.955;0.939;0.905	T	0.50457	-0.8826	10	0.14252	T	0.57	.	19.26	0.93964	0.0:1.0:0.0:0.0	.	407;407;357	A8K5A0;O15344;B4DLX8	.;TRI18_HUMAN;.	N	407;407;407;407;407;407;407;357;407	ENSP00000414521:D407N;ENSP00000312678:D407N;ENSP00000370162:D407N;ENSP00000370156:D407N;ENSP00000370164:D407N;ENSP00000370157:D407N;ENSP00000370159:D407N;ENSP00000391154:D407N	ENSP00000312678:D407N	D	-	1	0	MID1	10397803	1.000000	0.71417	0.974000	0.42286	0.980000	0.70556	7.290000	0.78711	2.500000	0.84329	0.600000	0.82982	GAT	.		0.483	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1		
MIRLET7BHG	400931	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	46505777	46505777	+	Missense_Mutation	SNP	G	G	T	rs559576610		TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr22:46505777G>T	ENST00000360737.3	+	5	529	c.370G>T	c.(370-372)Gat>Tat	p.D124Y	MIRLET7A3_ENST00000362116.1_RNA																							GATGACTCAAGATGCCACCTG	0.637																																					.		.											.	.	.	0			.						.						47.0	50.0	49.0					22																	46505777		692	1591	2283	SO:0001583	missense	400931	.			ACTCAAGATGCCA																												ENST00000360737.3:c.370G>T	22.37:g.46505777G>T	ENSP00000353966:p.Asp124Tyr	206.0	0.0		142.0	56.0	.		RNA	SNP	ENST00000360737.3	37		.	.	.	.	.	.	.	.	.	.	G	4.724	0.134564	0.09032	.	.	ENSG00000197182	ENST00000360737	.	.	.	2.08	1.02	0.19986	.	.	.	.	.	T	0.52533	0.1740	.	.	.	.	.	.	D	0.76494	0.999	P	0.57204	0.815	T	0.59053	-0.7526	6	0.87932	D	0	.	3.7274	0.08480	0.2375:0.0:0.7625:0.0	.	124	Q6ZNQ0	.	Y	124	.	ENSP00000353966:D124Y	D	+	1	0	MIRLET7BHG	44884441	0.011000	0.17503	0.080000	0.20451	0.108000	0.19459	1.405000	0.34635	1.109000	0.41680	0.205000	0.17691	GAT	.		0.637	FLJ27365-001	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316781.1		
CENPU	79682	hgsc.bcm.edu;bcgsc.ca	37	4	185646185	185646185	+	Silent	SNP	A	A	G	rs374160243		TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr4:185646185A>G	ENST00000281453.5	-	4	316	c.246T>C	c.(244-246)gcT>gcC	p.A82A	MLF1IP_ENST00000541971.1_Silent_p.A82A	NM_024629.3	NP_078905.2														endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		CTTCTTCATCAGCATATATAG	0.373																																					p.A82A		.											.	MLF1IP	90	0			c.T246C						.	A		0,4406		0,0,2203	142.0	135.0	137.0		246	-5.4	0.3	4		137	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MLF1IP	NM_024629.3		0,1,6502	GG,GA,AA		0.0116,0.0,0.0077		82/419	185646185	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79682	exon4			TTCATCAGCATAT																												ENST00000281453.5:c.246T>C	4.37:g.185646185A>G		111.0	0.0		83.0	5.0	NM_024629		Silent	SNP	ENST00000281453.5	37	CCDS3838.1																																																																																			.		0.373	MLF1IP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360841.2		
KMT2D	8085	hgsc.bcm.edu;bcgsc.ca	37	12	49421091	49421091	+	Silent	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr12:49421091T>C	ENST00000301067.7	-	48	14657	c.14658A>G	c.(14656-14658)ccA>ccG	p.P4886P		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4886					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TGGGTGGCTCTGGGGCGGGGC	0.602																																					p.P4886P		.											.	MLL2	612	0			c.A14658G						.						95.0	102.0	100.0					12																	49421091		1789	3830	5619	SO:0001819	synonymous_variant	8085	exon48			TGGCTCTGGGGCG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.14658A>G	12.37:g.49421091T>C		172.0	0.0		114.0	5.0	NM_003482	O14687	Silent	SNP	ENST00000301067.7	37	CCDS44873.1																																																																																			.		0.602	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
MPDZ	8777	hgsc.bcm.edu;bcgsc.ca	37	9	13193255	13193255	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr9:13193255T>C	ENST00000319217.7	-	14	1961	c.1714A>G	c.(1714-1716)Aca>Gca	p.T572A	MPDZ_ENST00000381022.2_Missense_Mutation_p.T572A|MPDZ_ENST00000541718.1_Missense_Mutation_p.T572A|MPDZ_ENST00000381015.4_Missense_Mutation_p.T572A|MPDZ_ENST00000536827.1_Missense_Mutation_p.T572A|MPDZ_ENST00000447879.1_Missense_Mutation_p.T572A|MPDZ_ENST00000546205.1_Missense_Mutation_p.T572A	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	572	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TGTCCCACTGTCGCTTCCAGG	0.443																																					p.T572A		.											.	MPDZ	231	0			c.A1714G						.						89.0	89.0	89.0					9																	13193255		1925	4123	6048	SO:0001583	missense	8777	exon14			CCACTGTCGCTTC	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1714A>G	9.37:g.13193255T>C	ENSP00000320006:p.Thr572Ala	78.0	0.0		60.0	4.0	NM_003829	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37		.	.	.	.	.	.	.	.	.	.	T	14.32	2.500367	0.44455	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73;1.73	5.87	4.73	0.59995	.	0.000000	0.48286	D	0.000187	T	0.21267	0.0512	L	0.41710	1.295	0.80722	D	1	P;P;P	0.44578	0.693;0.644;0.838	P;B;B	0.45660	0.489;0.356;0.356	T	0.07462	-1.0771	10	0.11485	T	0.65	.	6.923	0.24399	0.1329:0.0701:0.0:0.797	.	572;572;572	B7ZMI4;O75970-3;O75970-2	.;.;.	A	572	ENSP00000320006:T572A;ENSP00000439807:T572A;ENSP00000370410:T572A;ENSP00000444151:T572A;ENSP00000415208:T572A;ENSP00000370403:T572A;ENSP00000446358:T572A	ENSP00000320006:T572A	T	-	1	0	MPDZ	13183255	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.685000	0.37659	1.052000	0.40392	0.533000	0.62120	ACA	.		0.443	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829	
MPHOSPH8	54737	hgsc.bcm.edu;bcgsc.ca	37	13	20237233	20237233	+	Silent	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr13:20237233C>T	ENST00000361479.5	+	9	2054	c.1986C>T	c.(1984-1986)gtC>gtT	p.V662V	MPHOSPH8_ENST00000414242.2_Silent_p.V662V	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	662					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		TTGTAAATGTCCAGCAAAGCA	0.398																																					p.V662V		.											.	MPHOSPH8	68	0			c.C1986T						.						140.0	144.0	142.0					13																	20237233		2203	4300	6503	SO:0001819	synonymous_variant	54737	exon9			AAATGTCCAGCAA	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.1986C>T	13.37:g.20237233C>T		99.0	0.0		73.0	4.0	NM_017520	B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Silent	SNP	ENST00000361479.5	37	CCDS9287.1																																																																																			.		0.398	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520	
MS4A4A	51338	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	60073590	60073590	+	Silent	SNP	G	G	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr11:60073590G>A	ENST00000337908.4	+	6	654	c.564G>A	c.(562-564)gtG>gtA	p.V188V	MS4A4A_ENST00000532114.1_Silent_p.V135V|MS4A4A_ENST00000395016.3_Silent_p.V169V|MS4A4A_ENST00000355131.3_Silent_p.V169V	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	188						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						ATGGCATGGTGCTCCTCCTAA	0.463																																					p.V188V		.											.	MS4A4A	90	0			c.G564A						.						281.0	239.0	253.0					11																	60073590		2203	4300	6503	SO:0001819	synonymous_variant	51338	exon6			CATGGTGCTCCTC	AB013102	CCDS7982.1, CCDS58135.1	11q12	2012-02-28	2012-02-28		ENSG00000110079	ENSG00000110079			13371	protein-coding gene	gene with protein product		606547	"""membrane-spanning 4-domains, subfamily A, member 4"""	MS4A4		11245982, 11401424	Standard	NM_148975		Approved	CD20L1, MS4A7	uc001noz.3	Q96JQ5	OTTHUMG00000154949	ENST00000337908.4:c.564G>A	11.37:g.60073590G>A		674.0	0.0		458.0	95.0	NM_148975	Q8TEZ6|Q96PG7|Q9BY18|Q9H3V3|Q9P1S3	Silent	SNP	ENST00000337908.4	37	CCDS7982.1																																																																																			.		0.463	MS4A4A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337774.2		
MS4A8	83661	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	60476245	60476245	+	Silent	SNP	C	C	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr11:60476245C>A	ENST00000300226.2	+	5	728	c.525C>A	c.(523-525)gcC>gcA	p.A175A		NM_031457.1	NP_113645.1	Q9BY19	M4A8_HUMAN	membrane-spanning 4-domains, subfamily A, member 8	175						integral component of membrane (GO:0016021)											ATCCTTACGCCTGGGGTGTGG	0.463																																					p.A175A		.											.	.	.	0			c.C525A						.						125.0	112.0	116.0					11																	60476245		2203	4300	6503	SO:0001819	synonymous_variant	83661	exon5			TTACGCCTGGGGT	AF237905	CCDS7990.1	11q12	2013-03-01	2013-03-01	2013-03-01	ENSG00000166959	ENSG00000166959			13380	protein-coding gene	gene with protein product		606549	"""membrane-spanning 4-domains, subfamily A, member 8B"""	MS4A8B		11245982, 11401424	Standard	NM_031457		Approved	MS4A4, CD20L5	uc001npv.3	Q9BY19	OTTHUMG00000167686	ENST00000300226.2:c.525C>A	11.37:g.60476245C>A		238.0	0.0		151.0	56.0	NM_031457	Q8TCA5	Silent	SNP	ENST00000300226.2	37	CCDS7990.1	.	.	.	.	.	.	.	.	.	.	C	3.417	-0.118946	0.06838	.	.	ENSG00000166959	ENST00000525458	.	.	.	4.0	2.07	0.26955	.	.	.	.	.	T	0.31827	0.0809	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20107	-1.0285	4	.	.	.	3.6068	6.33	0.21264	0.0:0.7636:0.0:0.2364	.	.	.	.	H	157	.	.	P	+	2	0	MS4A8B	60232821	0.002000	0.14202	0.004000	0.12327	0.097000	0.18754	0.687000	0.25407	0.903000	0.36546	-0.218000	0.12543	CCT	.		0.463	MS4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395605.1		
MSLN	10232	hgsc.bcm.edu;bcgsc.ca	37	16	818713	818713	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr16:818713C>A	ENST00000382862.3	+	17	1968	c.1873C>A	c.(1873-1875)Cta>Ata	p.L625I	MSLN_ENST00000566549.1_Missense_Mutation_p.L617I|MSLN_ENST00000563941.1_Missense_Mutation_p.L617I|MIR662_ENST00000384847.1_RNA|MSLN_ENST00000545450.2_Missense_Mutation_p.L617I	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	625					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GGCACTGCTCCTAGCCTCCAC	0.697																																					p.L625I		.											.	MSLN	91	0			c.C1873A						.						66.0	55.0	59.0					16																	818713		2194	4294	6488	SO:0001583	missense	10232	exon17			CTGCTCCTAGCCT	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.1873C>A	16.37:g.818713C>A	ENSP00000372313:p.Leu625Ile	149.0	0.0		59.0	4.0	NM_013404	D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Missense_Mutation	SNP	ENST00000382862.3	37	CCDS32356.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.301512	0.23736	.	.	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.12255	2.7;2.7	2.84	-5.01	0.02991	.	0.284179	0.23268	N	0.050054	T	0.07324	0.0185	L	0.38175	1.15	0.09310	N	1	P;P;P	0.39862	0.642;0.692;0.642	B;B;B	0.35510	0.129;0.204;0.129	T	0.09773	-1.0659	10	0.87932	D	0	-2.3097	5.4485	0.16550	0.0:0.2956:0.156:0.5483	.	616;625;617	Q13421-4;Q13421;Q13421-3	.;MSLN_HUMAN;.	I	625;617;617;625	ENSP00000442965:L617I;ENSP00000372313:L625I	ENSP00000372313:L625I	L	+	1	2	MSLN	758714	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.840000	0.04363	-1.243000	0.02519	0.407000	0.27541	CTA	.		0.697	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2		
MST1R	4486	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	49940121	49940121	+	Missense_Mutation	SNP	G	G	A	rs541331773		TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr3:49940121G>A	ENST00000296474.3	-	1	949	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C	CTD-2330K9.3_ENST00000419183.1_5'Flank|MST1R_ENST00000344206.4_Missense_Mutation_p.R308C|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	308	Poly-Arg.|Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GCCCCCCGGCGCCTGCGTTTT	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		15347	0.0		0.0	False		,,,				2504	0.001				p.R308C		.											.	MST1R	1406	0			c.C922T						.						59.0	71.0	67.0					3																	49940121		2203	4300	6503	SO:0001583	missense	4486	exon1			CCCGGCGCCTGCG	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.922C>T	3.37:g.49940121G>A	ENSP00000296474:p.Arg308Cys	72.0	0.0		55.0	24.0	NM_001244937	B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753547	0.49362	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.07021	3.23;3.23	4.7	3.75	0.43078	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.046283	0.85682	D	0.000000	T	0.25901	0.0631	M	0.80746	2.51	0.53005	D	0.999967	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.998;1.0;1.0;0.999	T	0.00909	-1.1518	10	0.87932	D	0	-17.5197	7.3058	0.26447	0.0:0.1414:0.4771:0.3815	.	308;308;308;308;308	Q04912-3;Q04912-4;Q04912-6;Q04912-5;Q04912	.;.;.;.;RON_HUMAN	C	308	ENSP00000296474:R308C;ENSP00000341325:R308C	ENSP00000296474:R308C	R	-	1	0	MST1R	49915125	0.792000	0.28813	0.693000	0.30195	0.185000	0.23345	1.383000	0.34385	2.151000	0.67156	0.561000	0.74099	CGC	.		0.662	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1		
MUC2	4583	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	11	1092653	1092653	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr11:1092653C>A	ENST00000441003.2	+	30	4499	c.4472C>A	c.(4471-4473)aCa>aAa	p.T1491K	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.T1492K|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4226	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACAaccaccacaaccacccct	0.627																																					p.T1491K		.											.	MUC2	90	0			c.C4472A						.						331.0	486.0	432.0					11																	1092653		1708	3175	4883	SO:0001583	missense	4583	exon30			CCACCACAACCAC	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4472C>A	11.37:g.1092653C>A	ENSP00000415183:p.Thr1491Lys	3967.0	2.0		2125.0	391.0	NM_002457	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	-	3.506	-0.100813	0.06967	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.13778	2.59;2.56	0.924	0.924	0.19418	.	260.082000	0.01025	U	0.004044	T	0.04634	0.0126	.	.	.	0.21473	N	0.999671	P	0.45531	0.86	B	0.33890	0.172	T	0.32161	-0.9917	9	0.06365	T	0.9	.	5.0734	0.14618	0.0:0.7871:0.0:0.2129	.	1491	E7EUV1	.	K	1491;1492	ENSP00000415183:T1491K;ENSP00000351956:T1492K	ENSP00000351956:T1492K	T	+	2	0	MUC2	1082653	0.003000	0.15002	0.024000	0.17045	0.000000	0.00434	0.330000	0.19715	0.935000	0.37341	0.000000	0.15137	ACA	.		0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
MYO9A	4649	hgsc.bcm.edu;bcgsc.ca	37	15	72152137	72152137	+	Splice_Site	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr15:72152137A>G	ENST00000356056.5	-	34	6564	c.6092T>C	c.(6091-6093)tTa>tCa	p.L2031S	MYO9A_ENST00000444904.1_Splice_Site_p.L2012S|MYO9A_ENST00000424560.1_Splice_Site_p.L2102S|RNA5SP399_ENST00000364003.1_RNA|MYO9A_ENST00000564571.1_Splice_Site_p.L2031S	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2031	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATACTTGCATACTGAAAAATA	0.328																																					p.L2031S		.											.	MYO9A	93	0			c.T6092C						.						98.0	95.0	96.0					15																	72152137		2199	4297	6496	SO:0001630	splice_region_variant	4649	exon34			TTGCATACTGAAA	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.6092-1T>C	15.37:g.72152137A>G		97.0	0.0		53.0	4.0	NM_006901	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.971708	0.74246	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	T;T;T	0.14391	2.51;2.51;2.51	5.02	5.02	0.67125	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	.	.	.	.	T	0.24586	0.0596	L	0.31476	0.935	0.58432	D	0.999997	D	0.76494	0.999	D	0.87578	0.998	T	0.03000	-1.1084	9	0.25106	T	0.35	.	14.7384	0.69434	1.0:0.0:0.0:0.0	.	2031	B2RTY4	MYO9A_HUMAN	S	2031;2102;2012	ENSP00000348349:L2031S;ENSP00000399162:L2102S;ENSP00000398250:L2012S	ENSP00000348349:L2031S	L	-	2	0	MYO9A	69939191	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.060000	0.76692	1.881000	0.54492	0.528000	0.53228	TTA	.		0.328	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901	Missense_Mutation
MYPN	84665	hgsc.bcm.edu;bcgsc.ca	37	10	69925542	69925542	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr10:69925542A>G	ENST00000358913.5	+	9	2055	c.1567A>G	c.(1567-1569)Aca>Gca	p.T523A	MYPN_ENST00000540630.1_Missense_Mutation_p.T523A|MYPN_ENST00000354393.2_Missense_Mutation_p.T248A	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	523	Ig-like 2.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CAAATACGGCACAGTGTCAAG	0.438																																					p.T523A		.											.	MYPN	95	0			c.A1567G						.						169.0	136.0	147.0					10																	69925542		2203	4300	6503	SO:0001583	missense	84665	exon10			TACGGCACAGTGT	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.1567A>G	10.37:g.69925542A>G	ENSP00000351790:p.Thr523Ala	85.0	0.0		76.0	4.0	NM_001256267	Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.172926	0.78452	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.66638	-0.22;-0.22;-0.22	5.23	4.06	0.47325	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72542	0.3473	L	0.39566	1.225	0.58432	D	0.999991	D;D;D	0.76494	0.996;0.999;0.999	D;D;D	0.83275	0.987;0.978;0.996	T	0.69250	-0.5194	9	.	.	.	.	11.1945	0.48704	0.8623:0.0:0.0:0.1377	.	523;248;523	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	A	248;248;523;523	ENSP00000346369:T248A;ENSP00000351790:T523A;ENSP00000441668:T523A	.	T	+	1	0	MYPN	69595548	1.000000	0.71417	0.908000	0.35775	0.884000	0.51177	8.923000	0.92808	0.779000	0.33543	0.459000	0.35465	ACA	.		0.438	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578	
NBEA	26960	hgsc.bcm.edu;bcgsc.ca	37	13	36046654	36046654	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr13:36046654T>C	ENST00000400445.3	+	41	7100	c.6566T>C	c.(6565-6567)tTc>tCc	p.F2189S	NBEA_ENST00000310336.4_Missense_Mutation_p.F2189S|NBEA_ENST00000540320.1_Missense_Mutation_p.F2189S|NBEA_ENST00000379939.2_Missense_Mutation_p.F2186S	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2189					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GATTCTGCCTTCAAGAAGATC	0.488																																					p.F2189S		.											.	NBEA	144	0			c.T6566C						.						91.0	90.0	90.0					13																	36046654		1991	4172	6163	SO:0001583	missense	26960	exon41			CTGCCTTCAAGAA	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.6566T>C	13.37:g.36046654T>C	ENSP00000383295:p.Phe2189Ser	100.0	0.0		63.0	4.0	NM_015678	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.160120	0.78226	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.51	5.51	0.81932	PH-BEACH domain (1);	0.000000	0.85682	D	0.000000	T	0.59238	0.2179	M	0.64997	1.995	0.80722	D	1	B;D	0.58268	0.218;0.982	B;P	0.54312	0.128;0.748	T	0.60535	-0.7244	10	0.45353	T	0.12	.	15.6376	0.76966	0.0:0.0:0.0:1.0	.	2189;2186	Q8NFP9;Q5T321	NBEA_HUMAN;.	S	2189;2189;2186;2189;816	ENSP00000440951:F2189S;ENSP00000383295:F2189S;ENSP00000369271:F2186S;ENSP00000308534:F2189S	ENSP00000308534:F2189S	F	+	2	0	NBEA	34944654	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	8.040000	0.89188	2.090000	0.63153	0.460000	0.39030	TTC	.		0.488	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	
NAA16	79612	hgsc.bcm.edu;bcgsc.ca	37	13	41946891	41946891	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr13:41946891T>C	ENST00000379406.3	+	17	2404	c.2080T>C	c.(2080-2082)Tct>Cct	p.S694P	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	694					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						AATGCTGCAGTCTGTCAAACG	0.303																																					p.S694P		.											.	NAA16	90	0			c.T2080C						.						84.0	86.0	85.0					13																	41946891		2202	4298	6500	SO:0001583	missense	79612	exon17			CTGCAGTCTGTCA	AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.2080T>C	13.37:g.41946891T>C	ENSP00000368716:p.Ser694Pro	121.0	0.0		89.0	4.0	NM_024561	B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	ENST00000379406.3	37	CCDS9379.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.454492	0.84209	.	.	ENSG00000172766	ENST00000379406	T	0.46819	0.86	5.3	5.3	0.74995	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000002	T	0.70753	0.3260	M	0.82323	2.585	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.75207	-0.3399	10	0.56958	D	0.05	-12.276	15.23	0.73381	0.0:0.0:0.0:1.0	.	694	Q6N069	NAA16_HUMAN	P	694	ENSP00000368716:S694P	ENSP00000368716:S694P	S	+	1	0	NAA16	40844891	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.127000	0.77210	2.006000	0.58801	0.533000	0.62120	TCT	.		0.303	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527	
NCAPG2	54892	hgsc.bcm.edu;bcgsc.ca	37	7	158472756	158472756	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr7:158472756A>G	ENST00000409423.1	-	12	1214	c.1042T>C	c.(1042-1044)Tca>Cca	p.S348P	NCAPG2_ENST00000356309.3_Missense_Mutation_p.S348P|NCAPG2_ENST00000449727.2_Missense_Mutation_p.S348P|NCAPG2_ENST00000275830.10_Missense_Mutation_p.S140P|NCAPG2_ENST00000409339.3_Missense_Mutation_p.S348P	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	348					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		GCAGCATTTGATCGAACTTCA	0.363																																					p.S348P		.											.	NCAPG2	272	0			c.T1042C						.						115.0	106.0	109.0					7																	158472756		1841	4099	5940	SO:0001583	missense	54892	exon11			CATTTGATCGAAC	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.1042T>C	7.37:g.158472756A>G	ENSP00000386569:p.Ser348Pro	146.0	0.0		120.0	5.0	NM_017760	A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	CCDS43686.1	.	.	.	.	.	.	.	.	.	.	A	18.42	3.619619	0.66787	.	.	ENSG00000146918	ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000449727	T;T;T;T;T	0.48522	1.41;1.41;0.81;1.41;1.41	6.17	5.0	0.66597	Armadillo-like helical (1);Armadillo-type fold (1);	0.063219	0.64402	D	0.000003	T	0.60856	0.2301	L	0.51422	1.61	0.46458	D	0.999057	D;D;D	0.71674	0.997;0.997;0.998	D;D;D	0.66847	0.911;0.939;0.947	T	0.61302	-0.7090	10	0.52906	T	0.07	-10.6941	13.2852	0.60239	0.752:0.248:0.0:0.0	.	348;140;348	Q86XI2-2;E7EUH9;Q86XI2	.;.;CNDG2_HUMAN	P	348;348;140;348;348	ENSP00000348657:S348P;ENSP00000386569:S348P;ENSP00000275830:S140P;ENSP00000387007:S348P;ENSP00000388326:S348P	ENSP00000275830:S140P	S	-	1	0	NCAPG2	158165517	0.998000	0.40836	0.696000	0.30242	0.839000	0.47603	2.303000	0.43646	1.123000	0.41961	0.533000	0.62120	TCA	.		0.363	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760	
NCKAP1L	3071	hgsc.bcm.edu;bcgsc.ca	37	12	54932744	54932744	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr12:54932744T>C	ENST00000293373.6	+	30	3339	c.3260T>C	c.(3259-3261)cTg>cCg	p.L1087P	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.L1037P	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1087					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TCCATTTCTCTGCTCATGCGC	0.468																																					p.L1087P		.											.	NCKAP1L	93	0			c.T3260C						.						92.0	80.0	84.0					12																	54932744		2203	4300	6503	SO:0001583	missense	3071	exon30			TTTCTCTGCTCAT	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.3260T>C	12.37:g.54932744T>C	ENSP00000293373:p.Leu1087Pro	99.0	0.0		66.0	4.0	NM_005337	B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	T	19.43	3.826512	0.71143	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.41400	1.0;1.0	4.25	4.25	0.50352	.	0.095554	0.43110	D	0.000615	T	0.58850	0.2151	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.62760	-0.6786	10	0.87932	D	0	-7.923	11.6366	0.51207	0.0:0.0:0.0:1.0	.	1087	P55160	NCKPL_HUMAN	P	1087;1037	ENSP00000293373:L1087P;ENSP00000445596:L1037P	ENSP00000293373:L1087P	L	+	2	0	NCKAP1L	53219011	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.111000	0.77077	1.930000	0.55929	0.533000	0.62120	CTG	.		0.468	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337	
NEDD4	4734	hgsc.bcm.edu;bcgsc.ca	37	15	56125247	56125247	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr15:56125247C>T	ENST00000508342.1	-	23	4042	c.3743G>A	c.(3742-3744)gGc>gAc	p.G1248D	NEDD4_ENST00000506154.1_Missense_Mutation_p.G1232D|NEDD4_ENST00000435532.3_Missense_Mutation_p.G829D|NEDD4_ENST00000338963.2_Missense_Mutation_p.G1176D	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1248	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CCGAGATGTGCCAGTGACAAA	0.348																																					p.G1176D		.											.	NEDD4	723	0			c.G3527A						.						103.0	103.0	103.0					15																	56125247		2193	4292	6485	SO:0001583	missense	4734	exon20			GATGTGCCAGTGA	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.3743G>A	15.37:g.56125247C>T	ENSP00000424827:p.Gly1248Asp	82.0	0.0		82.0	5.0	NM_198400	A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.263888|5.263888	0.95399|0.95399	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508871|ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	.|T;T;T;T	.|0.73681	.|-0.77;-0.77;-0.77;-0.77	5.36|5.36	5.36|5.36	0.76844|0.76844	.|HECT (4);	.|0.049127	.|0.85682	.|D	.|0.000000	D|D	0.92743|0.92743	0.7693|0.7693	H|H	0.99726|0.99726	4.73|4.73	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.76494	.|0.994;0.991;0.998;0.999	.|P;D;D;D	.|0.68353	.|0.759;0.957;0.922;0.957	D|D	0.96066|0.96066	0.9042|0.9042	5|10	.|0.87932	.|D	.|0	.|.	18.0708|18.0708	0.89405|0.89405	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1232;829;1248;1176	.|P46934-2;P46934-4;P46934;P46934-3	.|.;.;NEDD4_HUMAN;.	T|D	839|1248;829;1176;1232	.|ENSP00000424827:G1248D;ENSP00000410613:G829D;ENSP00000345530:G1176D;ENSP00000422705:G1232D	.|ENSP00000345530:G1176D	A|G	-|-	1|2	0|0	NEDD4|NEDD4	53912539|53912539	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.754000|7.754000	0.85163|0.85163	2.513000|2.513000	0.84729|0.84729	0.557000|0.557000	0.71058|0.71058	GCA|GGC	.		0.348	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400	
NME1	4830	hgsc.bcm.edu;bcgsc.ca	37	17	49237415	49237415	+	Silent	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr17:49237415C>T	ENST00000393196.3	+	3	332	c.201C>T	c.(199-201)taC>taT	p.Y67Y	NME2_ENST00000393193.2_Silent_p.Y67Y|NME2_ENST00000376392.6_Silent_p.Y67Y|NME1_ENST00000511355.1_Silent_p.Y67Y|NME2_ENST00000555572.1_Silent_p.Y92Y|NME1_ENST00000336097.3_Silent_p.Y92Y|NME1_ENST00000013034.3_Silent_p.Y92Y|NME1-NME2_ENST00000608447.1_Silent_p.Y92Y|NME1-NME2_ENST00000393198.3_Silent_p.Y67Y|NME1_ENST00000480143.1_Silent_p.Y92Y	NM_000269.2	NP_000260.1	P15531	NDKA_HUMAN	NME/NM23 nucleoside diphosphate kinase 1	67					cellular response to drug (GO:0035690)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|CTP biosynthetic process (GO:0006241)|DNA catabolic process (GO:0006308)|endocytosis (GO:0006897)|GTP biosynthetic process (GO:0006183)|hippocampus development (GO:0021766)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amine (GO:0014075)|response to cAMP (GO:0051591)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|deoxyribonuclease activity (GO:0004536)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|nucleoside diphosphate kinase activity (GO:0004550)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|single-stranded DNA binding (GO:0003697)			endometrium(1)|large_intestine(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		Adefovir Dipivoxil(DB00718)|Lamivudine(DB00709)|Tenofovir(DB00300)	TGGTGAAATACATGCACTCAG	0.498																																					p.Y92Y	GBM(176;1298 2890 6639 30062)	.											.	NME1	251	0			c.C276T						.						163.0	133.0	143.0					17																	49237415		2203	4300	6503	SO:0001819	synonymous_variant	4830	exon4			GAAATACATGCAC	AL360191, X17620	CCDS11578.1, CCDS11579.1	17q21.33	2013-04-29	2012-05-18		ENSG00000239672	ENSG00000239672			7849	protein-coding gene	gene with protein product		156490	"""non-metastatic cells 1, protein (NM23A) expressed in"""			8270257, 19852809	Standard	NM_000269		Approved	NM23, NM23-H1, NDPKA		P15531	OTTHUMG00000137474	ENST00000393196.3:c.201C>T	17.37:g.49237415C>T		77.0	0.0		116.0	5.0	NM_198175	Q6FGK3|Q86XQ2|Q9UDJ6	Silent	SNP	ENST00000393196.3	37	CCDS11579.1																																																																																			.		0.498	NME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268662.2	NM_000269	
NSUN7	79730	hgsc.bcm.edu;bcgsc.ca	37	4	40800850	40800850	+	Silent	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr4:40800850A>G	ENST00000381782.2	+	10	1824	c.1329A>G	c.(1327-1329)ccA>ccG	p.P443P	NSUN7_ENST00000316607.5_Silent_p.P443P	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	443							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CAGTTTTTCCAGAAGAAAATG	0.338																																					p.P443P		.											.	NSUN7	90	0			c.A1329G						.						96.0	100.0	98.0					4																	40800850		2202	4299	6501	SO:0001819	synonymous_variant	79730	exon10			TTTTCCAGAAGAA	BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"""NOP2/Sun domain containing"""	25857	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family, member 7"""			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.1329A>G	4.37:g.40800850A>G		109.0	0.0		94.0	4.0	NM_024677	C9JI19|Q8N9K8|Q9H815	Silent	SNP	ENST00000381782.2	37	CCDS3461.2																																																																																			.		0.338	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250454.2	NM_024677	
OAS1	4938	hgsc.bcm.edu;bcgsc.ca	37	12	113357220	113357220	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr12:113357220G>T	ENST00000202917.5	+	6	1328	c.1065G>T	c.(1063-1065)gaG>gaT	p.E355D	OAS1_ENST00000551241.1_Intron|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Intron	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	355					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						CAGACGATGAGACCGACGATC	0.498																																					p.E355D		.											.	OAS1	70	0			c.G1065T						.						95.0	92.0	93.0					12																	113357220		2203	4300	6503	SO:0001583	missense	4938	exon6			CGATGAGACCGAC	X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"""2',5'-oligoadenylate synthetase 1 (40-46 kD)"""	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.1065G>T	12.37:g.113357220G>T	ENSP00000202917:p.Glu355Asp	93.0	0.0		77.0	5.0	NM_016816	A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	ENST00000202917.5	37	CCDS41838.1	.	.	.	.	.	.	.	.	.	.	G	2.728	-0.265134	0.05754	.	.	ENSG00000089127	ENST00000202917	T	0.04706	3.57	2.29	-2.98	0.05513	.	.	.	.	.	T	0.01976	0.0062	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48186	-0.9057	9	0.13853	T	0.58	.	3.9457	0.09347	0.1466:0.0:0.2602:0.5932	.	355	P00973	OAS1_HUMAN	D	355	ENSP00000202917:E355D	ENSP00000202917:E355D	E	+	3	2	OAS1	111841603	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.568000	0.02144	-0.774000	0.04590	0.557000	0.71058	GAG	.		0.498	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2		
OAS2	4939	hgsc.bcm.edu;bcgsc.ca	37	12	113443013	113443013	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr12:113443013C>T	ENST00000342315.4	+	7	1668	c.1454C>T	c.(1453-1455)gCc>gTc	p.A485V	OAS2_ENST00000392583.2_Missense_Mutation_p.A485V|RP1-71H24.1_ENST00000552784.1_RNA	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	485	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GTGCTTCCTGCCTTTAATGCA	0.522																																					p.A485V	Pancreas(199;709 2232 18410 33584 35052)	.											.	OAS2	91	0			c.C1454T						.						84.0	67.0	72.0					12																	113443013		2203	4300	6503	SO:0001583	missense	4939	exon7			TTCCTGCCTTTAA	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1454C>T	12.37:g.113443013C>T	ENSP00000342278:p.Ala485Val	81.0	0.0		65.0	4.0	NM_002535	A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	.	18.14	3.556919	0.65425	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.16324	2.35;2.35	4.43	3.53	0.40419	.	0.000000	0.47455	D	0.000225	T	0.40886	0.1135	M	0.83223	2.63	0.52099	D	0.999944	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.33033	-0.9884	10	0.87932	D	0	-25.5517	8.3525	0.32310	0.0:0.8911:0.0:0.1089	.	485;485	P29728;P29728-2	OAS2_HUMAN;.	V	485	ENSP00000342278:A485V;ENSP00000376362:A485V	ENSP00000342278:A485V	A	+	2	0	OAS2	111927396	0.991000	0.36638	0.453000	0.27007	0.100000	0.18952	2.553000	0.45837	1.216000	0.43427	0.655000	0.94253	GCC	.		0.522	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1		
OLFM2	93145	hgsc.bcm.edu;bcgsc.ca	37	19	9968053	9968053	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr19:9968053G>T	ENST00000264833.4	-	4	651	c.466C>A	c.(466-468)Ctc>Atc	p.L156I	OLFM2_ENST00000590841.1_Missense_Mutation_p.L78I	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	156					protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CTGCCGGAGAGATTCCTCACC	0.632																																					p.L156I		.											.	OLFM2	132	0			c.C466A						.						104.0	82.0	90.0					19																	9968053		2203	4300	6503	SO:0001583	missense	93145	exon4			CGGAGAGATTCCT	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.466C>A	19.37:g.9968053G>T	ENSP00000264833:p.Leu156Ile	89.0	0.0		62.0	4.0	NM_058164	Q6IMJ3|Q96FC2	Missense_Mutation	SNP	ENST00000264833.4	37	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039488	0.55003	.	.	ENSG00000105088	ENST00000264833	D	0.90504	-2.68	3.84	3.84	0.44239	.	0.000000	0.64402	D	0.000002	D	0.89192	0.6645	L	0.47016	1.485	0.54753	D	0.999987	P	0.45044	0.849	P	0.47941	0.562	D	0.88086	0.2810	9	.	.	.	.	13.3045	0.60345	0.0:0.0:1.0:0.0	.	156	O95897	NOE2_HUMAN	I	156	ENSP00000264833:L156I	.	L	-	1	0	OLFM2	9829053	1.000000	0.71417	0.979000	0.43373	0.145000	0.21501	6.403000	0.73264	1.988000	0.58038	0.462000	0.41574	CTC	.		0.632	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1		
OR5AU1	390445	hgsc.bcm.edu;bcgsc.ca	37	14	21623682	21623682	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr14:21623682G>T	ENST00000304418.3	-	1	540	c.503C>A	c.(502-504)gCc>gAc	p.A168D		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		ATAGGCCATGGCAGCGATGAG	0.502																																					p.A168D		.											.	OR5AU1	68	0			c.C503A						.						68.0	64.0	66.0					14																	21623682		2203	4300	6503	SO:0001583	missense	390445	exon1			GCCATGGCAGCGA	AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"""GPCR / Class A : Olfactory receptors"""	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.503C>A	14.37:g.21623682G>T	ENSP00000302057:p.Ala168Asp	80.0	0.0		81.0	4.0	NM_001004731	B2RP78|Q6IEU2|Q96R10	Missense_Mutation	SNP	ENST00000304418.3	37	CCDS32042.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.492851	0.44352	.	.	ENSG00000169327	ENST00000304418	T	0.03152	4.03	4.22	4.22	0.49857	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.12902	0.0313	M	0.67953	2.075	0.39810	D	0.972689	D	0.71674	0.998	D	0.70487	0.969	T	0.00360	-1.1790	9	0.87932	D	0	.	7.8564	0.29485	0.1107:0.0:0.8893:0.0	.	168	Q8NGC0	O5AU1_HUMAN	D	168	ENSP00000302057:A168D	ENSP00000302057:A168D	A	-	2	0	OR5AU1	20693522	0.000000	0.05858	0.991000	0.47740	0.563000	0.35712	-0.022000	0.12480	2.189000	0.69895	0.313000	0.20887	GCC	.		0.502	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410213.1		
OTOL1	131149	hgsc.bcm.edu;bcgsc.ca	37	3	161221321	161221321	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr3:161221321G>T	ENST00000327928.4	+	4	1025	c.1025G>T	c.(1024-1026)cGg>cTg	p.R342L		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	342	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AGAGTGCCCCGGTCGGCTTTC	0.522																																					p.R342L		.											.	.	.	0			c.G1025T						.						39.0	38.0	38.0					3																	161221321		1872	4099	5971	SO:0001583	missense	131149	exon4			TGCCCCGGTCGGC		CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 15"""		"""otolin 1 homolog (zebrafish)"""			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.1025G>T	3.37:g.161221321G>T	ENSP00000330808:p.Arg342Leu	164.0	0.0		106.0	5.0	NM_001080440		Missense_Mutation	SNP	ENST00000327928.4	37	CCDS46948.1	.	.	.	.	.	.	.	.	.	.	G	5.140	0.211399	0.09757	.	.	ENSG00000182447	ENST00000327928	D	0.86297	-2.1	5.23	-2.2	0.06994	Tumour necrosis factor-like (2);Complement C1q protein (2);	0.298148	0.35407	N	0.003223	D	0.83552	0.5279	M	0.79123	2.44	0.09310	N	0.999994	P	0.49862	0.929	B	0.41440	0.357	T	0.77032	-0.2738	10	0.25106	T	0.35	.	11.4066	0.49902	0.5857:0.0:0.4143:0.0	.	342	A6NHN0	OTOL1_HUMAN	L	342	ENSP00000330808:R342L	ENSP00000330808:R342L	R	+	2	0	OTOL1	162704015	0.062000	0.20869	0.000000	0.03702	0.001000	0.01503	0.639000	0.24690	-0.955000	0.03636	-1.031000	0.02408	CGG	.		0.522	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440	
PAK1	5058	broad.mit.edu;bcgsc.ca	37	11	77090985	77090985	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr11:77090985T>C	ENST00000356341.3	-	3	776	c.245A>G	c.(244-246)gAa>gGa	p.E82G	PAK1_ENST00000528203.1_5'UTR|PAK1_ENST00000278568.4_Missense_Mutation_p.E82G|PAK1_ENST00000530617.1_Missense_Mutation_p.E82G	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	82	Autoregulatory region.|CRIB. {ECO:0000255|PROSITE- ProRule:PRU00057}.|GTPase-binding.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					AATTGTGTGTTCAAAATCTGA	0.408																																					p.E82G		.											.	PAK1	957	0			c.A245G						.						117.0	112.0	114.0					11																	77090985		2200	4292	6492	SO:0001583	missense	5058	exon3			GTGTGTTCAAAAT	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"""STE20 homolog, yeast"""	602590	"""p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"""			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.245A>G	11.37:g.77090985T>C	ENSP00000348696:p.Glu82Gly	160.0	0.0		119.0	6.0	NM_001128620	O75561|Q13567|Q32M53|Q32M54|Q86W79	Missense_Mutation	SNP	ENST00000356341.3	37	CCDS8250.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.754106	0.89843	.	.	ENSG00000149269	ENST00000356341;ENST00000530617;ENST00000278568;ENST00000529248;ENST00000524847;ENST00000528592	D;D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12;-2.12	5.19	5.19	0.71726	PAK-box/P21-Rho-binding (3);	0.101437	0.64402	D	0.000002	D	0.94069	0.8099	M	0.90369	3.11	0.80722	D	1	D;P;D	0.57899	0.976;0.755;0.981	D;P;P	0.64877	0.93;0.689;0.9	D	0.95014	0.8154	10	0.62326	D	0.03	.	15.3451	0.74330	0.0:0.0:0.0:1.0	.	82;82;82	B3KNX7;Q13153;Q13153-2	.;PAK1_HUMAN;.	G	82	ENSP00000348696:E82G;ENSP00000433423:E82G;ENSP00000278568:E82G;ENSP00000433518:E82G;ENSP00000432477:E82G;ENSP00000433004:E82G	ENSP00000278568:E82G	E	-	2	0	PAK1	76768633	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.655000	0.83696	2.088000	0.63022	0.383000	0.25322	GAA	.		0.408	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576	
PAN2	9924	hgsc.bcm.edu;bcgsc.ca	37	12	56726754	56726754	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr12:56726754T>C	ENST00000425394.2	-	2	501	c.125A>G	c.(124-126)gAg>gGg	p.E42G	PAN2_ENST00000257931.5_Missense_Mutation_p.E42G|PAN2_ENST00000440411.3_Missense_Mutation_p.E42G|PAN2_ENST00000548043.1_Missense_Mutation_p.E42G	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	GGCCACTCCCTCTGGGTCCAG	0.562																																					p.E42G		.											.	PAN2	702	0			c.A125G						.						116.0	97.0	103.0					12																	56726754		2203	4300	6503	SO:0001583	missense	9924	exon2			ACTCCCTCTGGGT	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.125A>G	12.37:g.56726754T>C	ENSP00000401721:p.Glu42Gly	57.0	0.0		61.0	4.0	NM_014871		Missense_Mutation	SNP	ENST00000425394.2	37	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	T	18.95	3.731979	0.69189	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.06294	3.32;3.32;3.32;3.32	4.72	4.72	0.59763	.	0.111020	0.64402	D	0.000012	T	0.05273	0.0140	N	0.25647	0.755	0.47905	D	0.999544	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.08055	0.003;0.003;0.001	T	0.39187	-0.9626	10	0.14252	T	0.57	-11.5693	13.6203	0.62134	0.0:0.0:0.0:1.0	.	42;42;42	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	G	42	ENSP00000401721:E42G;ENSP00000388231:E42G;ENSP00000257931:E42G;ENSP00000449861:E42G	ENSP00000257931:E42G	E	-	2	0	PAN2	55013021	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.370000	0.79589	2.133000	0.65898	0.477000	0.44152	GAG	.		0.562	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871	
PCDHB16	57717	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140563037	140563037	+	Silent	SNP	T	T	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr5:140563037T>A	ENST00000361016.2	+	1	2058	c.903T>A	c.(901-903)gtT>gtA	p.V301V		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	301	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGGGGAAGTTCGACTGAGAA	0.438																																					p.V301V		.											.	PCDHB16	92	0			c.T903A						.						80.0	87.0	85.0					5																	140563037		2203	4300	6503	SO:0001819	synonymous_variant	57717	exon1			GGAAGTTCGACTG	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.903T>A	5.37:g.140563037T>A		72.0	0.0		39.0	27.0	NM_020957	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	CCDS4251.1																																																																																			.		0.438	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957	
PCM1	5108	hgsc.bcm.edu;bcgsc.ca	37	8	17868140	17868140	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr8:17868140A>G	ENST00000519253.1	+	32	5410	c.5159A>G	c.(5158-5160)cAt>cGt	p.H1720R	PCM1_ENST00000325083.8_Missense_Mutation_p.H1728R|PCM1_ENST00000327578.8_Missense_Mutation_p.H427R|PCM1_ENST00000524226.1_Missense_Mutation_p.H1674R			Q15154	PCM1_HUMAN	pericentriolar material 1	1728	Interaction with HAP1.				centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		CTTGAAGATCATGGCTCACCT	0.393			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																p.H1728R		.		Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"""E, L"""	.	PCM1	742	0			c.A5183G						.						128.0	125.0	126.0					8																	17868140		1871	4104	5975	SO:0001583	missense	5108	exon32			AAGATCATGGCTC		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.5159A>G	8.37:g.17868140A>G	ENSP00000431099:p.His1720Arg	156.0	0.0		71.0	4.0	NM_006197	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.128|6.128	0.391823|0.391823	0.11581|0.11581	.|.	.|.	ENSG00000078674|ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226;ENST00000327578|ENST00000522275	T;T;T;T|.	0.63417|.	-0.04;-0.04;-0.04;-0.04|.	4.85|4.85	-0.802|-0.802	0.10889|0.10889	.|.	0.805653|.	0.11459|.	N|.	0.561977|.	T|T	0.09291|0.09291	0.0229|0.0229	N|N	0.03608|0.03608	-0.345|-0.345	0.22500|0.22500	N|N	0.999041|0.999041	B;B;B;B;B;B;B|.	0.10296|.	0.0;0.0;0.0;0.0;0.0;0.003;0.0|.	B;B;B;B;B;B;B|.	0.15484|.	0.002;0.002;0.001;0.002;0.001;0.013;0.002|.	T|T	0.28870|0.28870	-1.0030|-1.0030	10|5	0.22109|.	T|.	0.4|.	-8.7879|-8.7879	1.8844|1.8844	0.03235|0.03235	0.3329:0.3663:0.0902:0.2106|0.3329:0.3663:0.0902:0.2106	.|.	1720;1728;527;1720;1673;1674;1728|.	B9EIS5;D3DSQ0;B4DJ00;E7ETA6;Q15154-2;E7EV56;Q15154|.	.;.;.;.;.;.;PCM1_HUMAN|.	R|V	1728;1720;1674;427|468	ENSP00000327077:H1728R;ENSP00000431099:H1720R;ENSP00000430521:H1674R;ENSP00000328332:H427R|.	ENSP00000327077:H1728R|.	H|M	+|+	2|1	0|0	PCM1|PCM1	17912420|17912420	0.817000|0.817000	0.29147|0.29147	0.939000|0.939000	0.37840|0.37840	0.951000|0.951000	0.60555|0.60555	0.318000|0.318000	0.19504|0.19504	0.256000|0.256000	0.21614|0.21614	0.459000|0.459000	0.35465|0.35465	CAT|ATG	.		0.393	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197	
PCSK2	5126	broad.mit.edu;bcgsc.ca;mdanderson.org	37	20	17410143	17410143	+	Silent	SNP	A	A	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr20:17410143A>T	ENST00000262545.2	+	7	999	c.684A>T	c.(682-684)ggA>ggT	p.G228G	PCSK2_ENST00000377899.1_Silent_p.G209G|PCSK2_ENST00000536609.1_Silent_p.G193G	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	228	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GTGGAGTTGGAGTAGCATACA	0.493																																					p.G228G		.											.	PCSK2	157	0			c.A684T						.						105.0	105.0	105.0					20																	17410143		2203	4300	6503	SO:0001819	synonymous_variant	5126	exon7			AGTTGGAGTAGCA	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.684A>T	20.37:g.17410143A>T		81.0	0.0		79.0	32.0	NM_002594	B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP	ENST00000262545.2	37	CCDS13125.1																																																																																			.		0.493	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594	
PCYT1B	9468	hgsc.bcm.edu;bcgsc.ca	37	X	24597452	24597452	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chrX:24597452A>G	ENST00000379144.2	-	6	819	c.689T>C	c.(688-690)cTg>cCg	p.L230P	PCYT1B_ENST00000356768.4_Missense_Mutation_p.L230P|PCYT1B_ENST00000379145.1_Missense_Mutation_p.L212P	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	230					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	GCTGACATTCAGTTCCTTGGC	0.463																																					p.L230P		.											.	PCYT1B	130	0			c.T689C						.						277.0	203.0	228.0					X																	24597452		2203	4300	6503	SO:0001583	missense	9468	exon6			ACATTCAGTTCCT	AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"""phosphate cytidylyltransferase 1, choline, beta isoform"""			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.689T>C	X.37:g.24597452A>G	ENSP00000368439:p.Leu230Pro	185.0	0.0		122.0	5.0	NM_001163265	A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Missense_Mutation	SNP	ENST00000379144.2	37	CCDS14213.1	.	.	.	.	.	.	.	.	.	.	a	12.09	1.835092	0.32421	.	.	ENSG00000102230	ENST00000379145;ENST00000379144;ENST00000356768	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.84866	0.5567	M	0.90870	3.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.996	D	0.88435	0.3038	9	0.87932	D	0	-22.5167	14.0852	0.64951	1.0:0.0:0.0:0.0	.	230;212;230	Q9Y5K3-2;E9PD84;Q9Y5K3	.;.;PCY1B_HUMAN	P	212;230;230	.	ENSP00000349211:L230P	L	-	2	0	PCYT1B	24507373	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	8.753000	0.91637	1.901000	0.55032	0.427000	0.28365	CTG	.		0.463	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056103.1	NM_004845	
PDCD11	22984	hgsc.bcm.edu;bcgsc.ca	37	10	105184772	105184772	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr10:105184772T>C	ENST00000369797.3	+	20	2889	c.2795T>C	c.(2794-2796)gTg>gCg	p.V932A	PDCD11_ENST00000490787.1_3'UTR	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	932					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CAGGCGATTGTGCAGCACTTG	0.552																																					p.V932A		.											.	PDCD11	275	0			c.T2795C						.						125.0	112.0	117.0					10																	105184772		2203	4300	6503	SO:0001583	missense	22984	exon20			CGATTGTGCAGCA	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.2795T>C	10.37:g.105184772T>C	ENSP00000358812:p.Val932Ala	91.0	0.0		77.0	4.0	NM_014976	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	T	31	5.078234	0.94000	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.15372	2.43	5.74	5.74	0.90152	.	0.057567	0.64402	D	0.000001	T	0.35158	0.0922	M	0.65498	2.005	0.80722	D	1	D	0.58268	0.982	P	0.55112	0.769	T	0.07849	-1.0751	10	0.87932	D	0	-20.9168	16.3305	0.83010	0.0:0.0:0.0:1.0	.	932	Q14690	RRP5_HUMAN	A	932	ENSP00000358812:V932A	ENSP00000358812:V932A	V	+	2	0	PDCD11	105174762	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	7.310000	0.78947	2.317000	0.78254	0.459000	0.35465	GTG	.		0.552	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1		
PDE6G	5148	hgsc.bcm.edu;bcgsc.ca	37	17	79618688	79618688	+	Silent	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr17:79618688T>C	ENST00000331056.5	-	3	317	c.174A>G	c.(172-174)gaA>gaG	p.E58E	PDE6G_ENST00000571004.1_Silent_p.E58E|PDE6G_ENST00000573076.1_Silent_p.E108E|PDE6G_ENST00000571224.1_Silent_p.E58E|PDE6G_ENST00000574777.1_5'UTR|TSPAN10_ENST00000328585.4_RNA	NM_002602.3	NP_002593.1	P18545	CNRG_HUMAN	phosphodiesterase 6G, cGMP-specific, rod, gamma	58					activation of MAPK activity (GO:0000187)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|enzyme inhibitor activity (GO:0004857)			lung(2)|urinary_tract(1)	3	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		Sildenafil(DB00203)|Vardenafil(DB00862)	TTCCCAGGCCTTCCATTCCAG	0.662																																					p.E58E	GBM(189;38 2147 16440 40945 46567)	.											.	PDE6G	90	0			c.A174G						.						77.0	57.0	64.0					17																	79618688		2203	4300	6503	SO:0001819	synonymous_variant	5148	exon3			CAGGCCTTCCATT		CCDS11783.1	17q21.1	2014-01-28				ENSG00000185527	3.1.4.17	"""Phosphodiesterases"""	8789	protein-coding gene	gene with protein product		180073		PDEG		2155175	Standard	NM_002602		Approved	RP57	uc002kay.3	P18545		ENST00000331056.5:c.174A>G	17.37:g.79618688T>C		102.0	0.0		87.0	4.0	NM_002602	Q3KP63|Q7Z3U8	Silent	SNP	ENST00000331056.5	37	CCDS11783.1																																																																																			.		0.662	PDE6G-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440314.1		
PDHA2	5161	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	96762199	96762199	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr4:96762199C>A	ENST00000295266.4	+	1	961	c.898C>A	c.(898-900)Cgt>Agt	p.R300S		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	300					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)	p.R300C(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		AGTCAGTTATCGTACACGAGA	0.433																																					p.R300S		.											.	PDHA2	90	1	Substitution - Missense(1)	large_intestine(1)	c.C898A						.						103.0	100.0	101.0					4																	96762199		2203	4300	6503	SO:0001583	missense	5161	exon1			AGTTATCGTACAC		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.898C>A	4.37:g.96762199C>A	ENSP00000295266:p.Arg300Ser	110.0	0.0		71.0	37.0	NM_005390	B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969579	0.53614	.	.	ENSG00000163114	ENST00000295266	D	0.97870	-4.58	4.91	4.07	0.47477	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.99168	0.9712	H	0.98682	4.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98674	1.0689	10	0.87932	D	0	-10.2397	11.2932	0.49263	0.0:0.9113:0.0:0.0887	.	300	P29803	ODPAT_HUMAN	S	300	ENSP00000295266:R300S	ENSP00000295266:R300S	R	+	1	0	PDHA2	96981222	1.000000	0.71417	0.053000	0.19242	0.437000	0.31866	5.205000	0.65186	1.456000	0.47831	0.467000	0.42956	CGT	.		0.433	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1		
PDK1	5163	hgsc.bcm.edu;bcgsc.ca	37	2	173423557	173423557	+	Silent	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr2:173423557C>T	ENST00000282077.3	+	2	500	c.318C>T	c.(316-318)tcC>tcT	p.S106S	PDK1_ENST00000392571.2_Silent_p.S106S|PDK1_ENST00000544863.1_5'UTR|Y_RNA_ENST00000362996.1_RNA|PDK1_ENST00000543905.1_Silent_p.S30S|AC093818.1_ENST00000450443.1_RNA|AC093818.1_ENST00000442417.1_RNA|PDK1_ENST00000410055.1_Silent_p.S106S|AC093818.1_ENST00000444919.1_RNA|AC093818.1_ENST00000436922.1_RNA			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	106					cell proliferation (GO:0008283)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			GGACACCATCCGTTCAATTGG	0.383									Autosomal Dominant Polycystic Kidney Disease																												p.S106S		.											.	PDK1	978	0			c.C318T						.						95.0	92.0	93.0					2																	173423557		2203	4300	6503	SO:0001819	synonymous_variant	5163	exon2	Familial Cancer Database	ADPKD	ACCATCCGTTCAA	L42450	CCDS2250.1, CCDS63059.1	2q31.1	2008-05-23	2005-11-16		ENSG00000152256	ENSG00000152256			8809	protein-coding gene	gene with protein product		602524	"""pyruvate dehydrogenase kinase, isoenzyme 1"""			7499431	Standard	NR_103731		Approved		uc002uhs.3	Q15118	OTTHUMG00000132285	ENST00000282077.3:c.318C>T	2.37:g.173423557C>T		138.0	0.0		99.0	5.0	NM_002610	B2R6T1|B7Z937|D3DPD8|E9PD65|Q308M4	Silent	SNP	ENST00000282077.3	37	CCDS2250.1																																																																																			.		0.383	PDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255380.3	NM_002610	
PDS5A	23244	hgsc.bcm.edu;bcgsc.ca	37	4	39850470	39850470	+	Splice_Site	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr4:39850470C>T	ENST00000303538.8	-	28	3879		c.e28+1			NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						AAGAAAATTACCTTTTCAGGT	0.368																																					.		.											.	.	.	0			c.3339+1G>A						.						77.0	75.0	76.0					4																	39850470		1830	4087	5917	SO:0001630	splice_region_variant	23244	exon29			AAATTACCTTTTC	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.3339+1G>A	4.37:g.39850470C>T		80.0	0.0		65.0	4.0	NM_001100399		Splice_Site	SNP	ENST00000303538.8	37	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364380	0.82463	.	.	ENSG00000121892	ENST00000303538	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3219	0.94245	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDS5A	39526865	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.298000	0.78815	2.538000	0.85594	0.655000	0.94253	.	.		0.368	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200	Intron
PEX5	5830	hgsc.bcm.edu;bcgsc.ca	37	12	7344169	7344169	+	Silent	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr12:7344169T>C	ENST00000455147.2	+	6	901	c.321T>C	c.(319-321)ccT>ccC	p.P107P	PEX5_ENST00000434354.2_Silent_p.P122P|PEX5_ENST00000266563.5_Silent_p.P107P|PEX5_ENST00000266564.3_Silent_p.P107P|RP11-273B20.3_ENST00000545794.1_RNA|PEX5_ENST00000545220.1_3'UTR|PEX5_ENST00000420616.2_Silent_p.P107P|PEX5_ENST00000412720.2_Silent_p.P128P|RP11-273B20.3_ENST00000543061.1_RNA	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	107					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						TTTAAGCCCCTGGTGTGGCAG	0.448																																					p.P122P		.											.	PEX5	91	0			c.T366C						.						68.0	68.0	68.0					12																	7344169		2203	4300	6503	SO:0001819	synonymous_variant	5830	exon5			AGCCCCTGGTGTG	U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"""Tetratricopeptide (TTC) repeat domain containing"""	9719	protein-coding gene	gene with protein product		600414	"""peroxisome receptor 1"""	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.321T>C	12.37:g.7344169T>C		82.0	0.0		66.0	4.0	NM_001131023	A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Silent	SNP	ENST00000455147.2	37	CCDS44823.1																																																																																			.		0.448	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319	
PHYHD1	254295	hgsc.bcm.edu;bcgsc.ca	37	9	131702690	131702690	+	Missense_Mutation	SNP	T	T	C	rs569532899		TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr9:131702690T>C	ENST00000372592.3	+	10	1433	c.500T>C	c.(499-501)cTg>cCg	p.L167P	PHYHD1_ENST00000308941.5_Missense_Mutation_p.W160R|PHYHD1_ENST00000353176.5_Missense_Mutation_p.L146P|PHYHD1_ENST00000421063.2_Missense_Mutation_p.L146P|RP11-101E3.5_ENST00000482796.1_5'Flank|PHYHD1_ENST00000487504.1_3'UTR	NM_001100876.1	NP_001094346.1	Q5SRE7	PHYD1_HUMAN	phytanoyl-CoA dioxygenase domain containing 1	167							dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3)	10						ACGGAGCCCCTGGGCCGGGTG	0.627													T|||	1	0.000199681	0.0	0.0	5008	,	,		17838	0.0		0.0	False		,,,				2504	0.001				p.L167P		.											.	PHYHD1	90	0			c.T500C						.						71.0	77.0	75.0					9																	131702690		2203	4300	6503	SO:0001583	missense	254295	exon10			AGCCCCTGGGCCG	BC051300	CCDS6914.1, CCDS43885.1, CCDS43886.1	9q34.13	2010-08-13			ENSG00000175287	ENSG00000175287			23396	protein-coding gene	gene with protein product						12477932	Standard	NM_174933		Approved	MGC16638	uc004bwp.2	Q5SRE7	OTTHUMG00000020764	ENST00000372592.3:c.500T>C	9.37:g.131702690T>C	ENSP00000361673:p.Leu167Pro	107.0	0.0		87.0	4.0	NM_001100876	A6PWN9|A6PWP0|B3KT57|B4E3X8|Q5SRE9|Q5SRF0|Q7Z623|Q7Z7P9|Q96GM4	Missense_Mutation	SNP	ENST00000372592.3	37	CCDS43885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.93|18.93	3.726987|3.726987	0.69074|0.69074	.|.	.|.	ENSG00000175287|ENSG00000175287	ENST00000372592;ENST00000353176;ENST00000426694;ENST00000421063|ENST00000308941;ENST00000419872	D;D;D;D|.	0.88664|.	-2.41;-2.41;-2.41;-2.41|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78717|0.78717	0.4327|0.4327	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B;B|D	0.19706|0.76494	0.029;0.038|0.999	B;B|D	0.25291|0.74023	0.059;0.027|0.982	T|T	0.81949|0.81949	-0.0699|-0.0699	8|8	0.30078|0.87932	T|D	0.28|0	-3.8361|-3.8361	14.3375|14.3375	0.66600|0.66600	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	146;167|160	Q5SRE7-2;Q5SRE7|Q5SRE7-3	.;PHYD1_HUMAN|.	P|R	167;146;167;146|160;25	ENSP00000361673:L167P;ENSP00000340945:L146P;ENSP00000412377:L167P;ENSP00000409928:L146P|.	ENSP00000340945:L146P|ENSP00000309515:W160R	L|W	+|+	2|1	0|0	PHYHD1|PHYHD1	130742511|130742511	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	5.150000|5.150000	0.64869|0.64869	1.998000|1.998000	0.58463|0.58463	0.454000|0.454000	0.30748|0.30748	CTG|TGG	.		0.627	PHYHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054506.2	NM_174933	
PIBF1	10464	hgsc.bcm.edu;bcgsc.ca	37	13	73428292	73428292	+	Splice_Site	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr13:73428292A>G	ENST00000326291.6	+	10	1659	c.1321A>G	c.(1321-1323)Agg>Ggg	p.R441G	AL391384.1_ENST00000408054.1_RNA	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	441						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GCTCTTAGACAGGTAAGCATC	0.333																																					p.R441G		.											.	PIBF1	136	0			c.A1321G						.						88.0	90.0	89.0					13																	73428292		2203	4300	6503	SO:0001630	splice_region_variant	10464	exon10			TTAGACAGGTAAG	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.1322+1A>G	13.37:g.73428292A>G		100.0	0.0		80.0	4.0	NM_006346	O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	ENST00000326291.6	37	CCDS31991.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.350367	0.41599	.	.	ENSG00000083535	ENST00000326291	T	0.22743	1.94	4.88	3.78	0.43462	.	0.059270	0.64402	D	0.000001	T	0.16811	0.0404	L	0.38175	1.15	0.33061	D	0.534035	B;B	0.24721	0.11;0.11	B;B	0.24848	0.056;0.056	T	0.15037	-1.0451	10	0.72032	D	0.01	-4.0035	9.2173	0.37355	0.5912:0.4088:0.0:0.0	.	441;441	Q8WXW3;Q4G0R1	PIBF1_HUMAN;.	G	441	ENSP00000317144:R441G	ENSP00000317144:R441G	R	+	1	2	PIBF1	72326293	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	4.148000	0.58085	1.840000	0.53500	0.455000	0.32223	AGG	.		0.333	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346	Missense_Mutation
PIGL	9487	hgsc.bcm.edu;bcgsc.ca	37	17	16137378	16137378	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr17:16137378A>G	ENST00000225609.5	+	2	346	c.329A>G	c.(328-330)gAc>gGc	p.D110G	PIGL_ENST00000395844.4_Missense_Mutation_p.D110G|PIGL_ENST00000581006.1_Missense_Mutation_p.D110G|PIGL_ENST00000498772.2_Missense_Mutation_p.D110G	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	110					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	N-acetylglucosaminylphosphatidylinositol deacetylase activity (GO:0000225)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		ATGATTATTGACAACAGGTAA	0.353																																					p.D110G		.											.	PIGL	226	0			c.A329G						.						78.0	81.0	80.0					17																	16137378		2203	4300	6503	SO:0001583	missense	9487	exon2			TTATTGACAACAG	AB017165	CCDS11176.1	17p12-p11.2	2013-02-26	2006-06-28		ENSG00000108474	ENSG00000108474	3.5.1.89	"""Phosphatidylinositol glycan anchor biosynthesis"""	8966	protein-coding gene	gene with protein product	"""N-acetylglucosaminylphosphatidylinositol deacetylase"""	605947	"""phosphatidylinositol glycan, class L"""			10085243	Standard	NM_004278		Approved		uc002gpv.3	Q9Y2B2	OTTHUMG00000059346	ENST00000225609.5:c.329A>G	17.37:g.16137378A>G	ENSP00000225609:p.Asp110Gly	95.0	0.0		54.0	4.0	NM_004278	A8KA67|B4DYN4	Missense_Mutation	SNP	ENST00000225609.5	37	CCDS11176.1	.	.	.	.	.	.	.	.	.	.	A	13.60	2.285341	0.40394	.	.	ENSG00000108474	ENST00000225609;ENST00000395844	T;T	0.76448	-1.02;-1.02	5.78	5.78	0.91487	Putative deacetylase LmbE-like domain (2);	0.134522	0.64402	D	0.000003	T	0.80099	0.4561	L	0.47716	1.5	0.49213	D	0.999766	P;P	0.51537	0.946;0.892	P;P	0.53360	0.721;0.724	T	0.80881	-0.1184	10	0.51188	T	0.08	-11.6728	14.11	0.65115	1.0:0.0:0.0:0.0	.	110;110	B4DYN4;Q9Y2B2	.;PIGL_HUMAN	G	110	ENSP00000225609:D110G;ENSP00000379185:D110G	ENSP00000225609:D110G	D	+	2	0	PIGL	16078103	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.741000	0.74837	2.220000	0.72140	0.477000	0.44152	GAC	.		0.353	PIGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131881.1		
PKP2	5318	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	33031343	33031343	+	Silent	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr12:33031343C>T	ENST00000070846.6	-	3	495	c.471G>A	c.(469-471)gaG>gaA	p.E157E	PKP2_ENST00000340811.4_Silent_p.E157E	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	157					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AGTGAGCCCTCTCCGGGCTGC	0.592																																					p.E157E		.											.	PKP2	92	0			c.G471A						.						120.0	120.0	120.0					12																	33031343		2203	4297	6500	SO:0001819	synonymous_variant	5318	exon3			AGCCCTCTCCGGG	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.471G>A	12.37:g.33031343C>T		138.0	0.0		110.0	15.0	NM_004572	A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Silent	SNP	ENST00000070846.6	37	CCDS8731.1																																																																																			.		0.592	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572	
PLD2	5338	hgsc.bcm.edu;bcgsc.ca	37	17	4712848	4712848	+	Splice_Site	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr17:4712848T>C	ENST00000263088.6	+	7	745		c.e7+2		RP11-81A22.5_ENST00000571067.1_lincRNA|PLD2_ENST00000572940.1_Splice_Site	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2						cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CAAAGGACTGTGAGTGTCTGG	0.572																																					.		.											.	PLD2	291	0			c.614+2T>C						.						54.0	56.0	56.0					17																	4712848		2203	4300	6503	SO:0001630	splice_region_variant	5338	exon7			GGACTGTGAGTGT	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.614+2T>C	17.37:g.4712848T>C		114.0	0.0		110.0	5.0	NM_002663	I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Splice_Site	SNP	ENST00000263088.6	37	CCDS11057.1	.	.	.	.	.	.	.	.	.	.	T	17.42	3.384349	0.61845	.	.	ENSG00000129219	ENST00000263088	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8822	0.58024	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLD2	4659812	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	5.590000	0.67530	2.148000	0.66965	0.459000	0.35465	.	.		0.572	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663	Intron
PLK2	10769	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	5	57753099	57753099	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr5:57753099G>T	ENST00000274289.3	-	7	1217	c.917C>A	c.(916-918)cCt>cAt	p.P306H	PLK2_ENST00000502671.1_5'UTR	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	306	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GTGCTTGGCAGGAGCCAGCAA	0.438																																					p.P306H		.											.	PLK2	409	0			c.C917A						.						86.0	81.0	83.0					5																	57753099		2203	4300	6503	SO:0001583	missense	10769	exon7			TTGGCAGGAGCCA		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.917C>A	5.37:g.57753099G>T	ENSP00000274289:p.Pro306His	46.0	0.0		20.0	4.0	NM_006622	O60679|Q96CV7|Q9UE61	Missense_Mutation	SNP	ENST00000274289.3	37	CCDS3974.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.419916	0.42918	.	.	ENSG00000145632	ENST00000274289;ENST00000537944;ENST00000442330	T	0.65178	-0.14	5.27	5.27	0.74061	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.168065	0.56097	D	0.000040	T	0.59473	0.2196	L	0.39020	1.185	0.45662	D	0.998584	B	0.24186	0.099	B	0.32762	0.152	T	0.57676	-0.7770	10	0.49607	T	0.09	-15.0317	18.9292	0.92558	0.0:0.0:1.0:0.0	.	306	Q9NYY3	PLK2_HUMAN	H	306;306;292	ENSP00000274289:P306H	ENSP00000274289:P306H	P	-	2	0	PLK2	57788856	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	5.947000	0.70242	2.461000	0.83175	0.655000	0.94253	CCT	.		0.438	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622	
PLK4	10733	hgsc.bcm.edu;bcgsc.ca	37	4	128803010	128803010	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr4:128803010G>T	ENST00000270861.5	+	2	329	c.55G>T	c.(55-57)Ggt>Tgt	p.G19C	PLK4_ENST00000513090.1_Missense_Mutation_p.G19C|PLK4_ENST00000515069.1_Missense_Mutation_p.G19C|PLK4_ENST00000507249.1_Missense_Mutation_p.G19C|PLK4_ENST00000511942.1_3'UTR|PLK4_ENST00000514379.1_5'UTR	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	19	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						AAATCTGCTTGGTAAAGGATC	0.368																																					p.G19C	Colon(135;508 1718 19061 31832 42879)	.											.	PLK4	333	0			c.G55T						.						95.0	94.0	94.0					4																	128803010		2203	4300	6503	SO:0001583	missense	10733	exon2			CTGCTTGGTAAAG	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.55G>T	4.37:g.128803010G>T	ENSP00000270861:p.Gly19Cys	181.0	0.0		98.0	4.0	NM_001190799	B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	ENST00000270861.5	37	CCDS3735.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472526	0.84640	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	3.97	3.97	0.46021	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87497	0.6192	H	0.98769	4.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93053	0.6467	10	0.87932	D	0	-7.6902	16.6235	0.84936	0.0:0.0:1.0:0.0	.	19;19	O00444-2;O00444	.;PLK4_HUMAN	C	19	ENSP00000270861:G19C;ENSP00000421774:G19C;ENSP00000427554:G19C;ENSP00000423412:G19C	ENSP00000270861:G19C	G	+	1	0	PLK4	129022460	1.000000	0.71417	0.996000	0.52242	0.962000	0.63368	8.776000	0.91776	2.211000	0.71520	0.561000	0.74099	GGT	.		0.368	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3		
PMEPA1	56937	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	20	56228121	56228121	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr20:56228121C>A	ENST00000341744.3	-	3	605	c.286G>T	c.(286-288)Gag>Tag	p.E96*	PMEPA1_ENST00000395816.3_Nonsense_Mutation_p.E46*|PMEPA1_ENST00000347215.4_Nonsense_Mutation_p.E61*|PMEPA1_ENST00000395814.1_Nonsense_Mutation_p.E46*|PMEPA1_ENST00000265626.4_Nonsense_Mutation_p.E46*	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	96					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						ACTGTGCTCTCCGAGGGCCAC	0.632																																					p.E96X		.											.	PMEPA1	227	0			c.G286T						.						114.0	69.0	84.0					20																	56228121		2203	4300	6503	SO:0001587	stop_gained	56937	exon3			TGCTCTCCGAGGG	AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"""solid tumor-associated 1"""	606564	"""transmembrane, prostate androgen induced RNA"""	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.286G>T	20.37:g.56228121C>A	ENSP00000345826:p.Glu96*	83.0	0.0		109.0	35.0	NM_020182	Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Nonsense_Mutation	SNP	ENST00000341744.3	37	CCDS13463.1	.	.	.	.	.	.	.	.	.	.	C	37	5.995370	0.97184	.	.	ENSG00000124225	ENST00000341744;ENST00000347215;ENST00000395816;ENST00000265626;ENST00000395814;ENST00000414037;ENST00000395819	.	.	.	4.51	4.51	0.55191	.	0.168609	0.50627	D	0.000104	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-14.1401	16.852	0.85996	0.0:1.0:0.0:0.0	.	.	.	.	X	96;61;46;46;46;68;153	.	ENSP00000265626:E46X	E	-	1	0	PMEPA1	55661527	1.000000	0.71417	0.880000	0.34516	0.820000	0.46376	6.525000	0.73795	2.055000	0.61198	0.655000	0.94253	GAG	.		0.632	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182	
POLE	5426	hgsc.bcm.edu;bcgsc.ca	37	12	133256186	133256186	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr12:133256186T>C	ENST00000320574.5	-	6	518	c.475A>G	c.(475-477)Act>Gct	p.T159A	POLE_ENST00000535270.1_Missense_Mutation_p.T132A	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	159					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TCCTCCACAGTGTGGAAGGAC	0.493								DNA polymerases (catalytic subunits)																													p.T159A		.											.	POLE	233	0			c.A475G						.						130.0	105.0	114.0					12																	133256186		2203	4300	6503	SO:0001583	missense	5426	exon6			CCACAGTGTGGAA		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.475A>G	12.37:g.133256186T>C	ENSP00000322570:p.Thr159Ala	110.0	0.0		78.0	4.0	NM_006231	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	T	12.82	2.051712	0.36181	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000376577	T;T;T	0.09817	2.94;2.94;2.94	5.95	5.95	0.96441	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.25158	0.0611	M	0.82193	2.58	0.46798	D	0.999204	P;P	0.41366	0.747;0.639	P;P	0.48921	0.46;0.595	T	0.01393	-1.1366	10	0.62326	D	0.03	.	10.2046	0.43105	0.2556:0.0:0.0:0.7444	.	132;159	F5H1D6;Q07864	.;DPOE1_HUMAN	A	159;170;132;94	ENSP00000322570:T159A;ENSP00000406383:T170A;ENSP00000445753:T132A	ENSP00000322570:T159A	T	-	1	0	POLE	131766259	1.000000	0.71417	0.997000	0.53966	0.171000	0.22731	4.835000	0.62781	2.279000	0.76181	0.402000	0.26972	ACT	.		0.493	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231	
POMT2	29954	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca|broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	77746806	77746807	+	Splice_Site	DNP	CC	CC	AA			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown|.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr14:77746806_77746807CC>AA	ENST00000261534.4	-	16	1856	c.1654_1654GG>TT	c.(1654-1656)GGgg>TTggg	p.G552L		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	552						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		CCACTGTTCCCCTGCATGAAGG	0.535																																					p.G552W|.		.											.	POMT2	91	0			c.G1654T|c.1654-1G>T						.																																			SO:0001630	splice_region_variant	29954	exon16|exon17			TGTTCCCCTGCAT|GTTCCCCTGCATG	AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.1654_1654delinsAA	14.37:g.77746806_77746807delinsAA		256.0|252.0	0.0|2.0		166.0|159.0	83.0|81.0	NM_013382	Q9NSG6|Q9P1W0|Q9P1W2	Missense_Mutation|Splice_Site	SNP	ENST00000261534.4	37	CCDS9857.1																																																																																			.		0.535	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382	Missense_Mutation
PPEF1	5475	hgsc.bcm.edu;bcgsc.ca	37	X	18797263	18797263	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chrX:18797263G>T	ENST00000361511.4	+	10	1188	c.694G>T	c.(694-696)Ggg>Tgg	p.G232W	PPEF1_ENST00000359763.6_Missense_Mutation_p.G179W|PPEF1_ENST00000544635.1_Missense_Mutation_p.G167W|PPEF1_ENST00000543630.1_Missense_Mutation_p.G232W|PPEF1_ENST00000349874.5_Missense_Mutation_p.G232W	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	232	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					CTTGAACAGAGGGAACCACGA	0.393																																					p.G232W		.											.	PPEF1	226	0			c.G694T						.						120.0	111.0	114.0					X																	18797263		2203	4300	6503	SO:0001583	missense	5475	exon10			AACAGAGGGAACC	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.694G>T	X.37:g.18797263G>T	ENSP00000354871:p.Gly232Trp	84.0	0.0		91.0	4.0	NM_152226	A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	ENST00000361511.4	37	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345829	0.82022	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000543630;ENST00000544635	D;D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97	5.19	5.19	0.71726	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (3);Metallophosphoesterase domain (1);	0.000000	0.64402	D	0.000007	D	0.96074	0.8721	H	0.99074	4.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98385	1.0560	10	0.87932	D	0	-11.704	17.8877	0.88862	0.0:0.0:1.0:0.0	.	232;232;232	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	W	232;179;232;232;167	ENSP00000354871:G232W;ENSP00000352806:G179W;ENSP00000341892:G232W;ENSP00000437785:G232W;ENSP00000441289:G167W	ENSP00000341892:G232W	G	+	1	0	PPEF1	18707184	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.417000	0.97391	2.156000	0.67533	0.529000	0.55759	GGG	.		0.393	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240	
PPFIBP2	8495	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	7670813	7670813	+	Missense_Mutation	SNP	C	C	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr11:7670813C>G	ENST00000299492.4	+	21	2437	c.2049C>G	c.(2047-2049)atC>atG	p.I683M	PPFIBP2_ENST00000533792.1_Missense_Mutation_p.I525M|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.I540M|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.I571M|PPFIBP2_ENST00000530582.1_3'UTR	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	683	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		ATCTCAGCATCAAATGTGCCA	0.453																																					p.I683M		.											.	PPFIBP2	273	0			c.C2049G						.						246.0	247.0	246.0					11																	7670813		2201	4296	6497	SO:0001583	missense	8495	exon21			CAGCATCAAATGT	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.2049C>G	11.37:g.7670813C>G	ENSP00000299492:p.Ile683Met	303.0	0.0		199.0	67.0	NM_003621	B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555140	0.65425	.	.	ENSG00000166387	ENST00000299492;ENST00000537211;ENST00000533792;ENST00000541115;ENST00000528883;ENST00000530181	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.2	3.25	0.37280	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.64402	D	0.000001	T	0.72285	0.3441	L	0.50993	1.605	0.45930	D	0.998769	D;D;D;D;D;D	0.89917	1.0;0.973;1.0;0.998;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;0.949;0.995;0.998;0.999;1.0	T	0.72286	-0.4338	10	0.72032	D	0.01	-16.1897	5.3238	0.15895	0.1765:0.6576:0.0:0.1659	.	571;571;606;525;540;683	E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30	.;.;.;.;.;LIPB2_HUMAN	M	683;24;525;606;571;540	ENSP00000299492:I683M;ENSP00000436498:I525M;ENSP00000435469:I571M;ENSP00000437321:I540M	ENSP00000299492:I683M	I	+	3	3	PPFIBP2	7627389	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.503000	0.35715	1.269000	0.44280	0.563000	0.77884	ATC	.		0.453	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621	
PPIE	10450	hgsc.bcm.edu;bcgsc.ca	37	1	40218983	40218983	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr1:40218983C>T	ENST00000324379.5	+	10	881	c.862C>T	c.(862-864)Cca>Tca	p.P288S	PPIE_ENST00000356511.2_Intron|PPIE_ENST00000372830.1_Intron	NM_006112.3	NP_006103.1	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E (cyclophilin E)	288	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral genome replication (GO:0045070)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	9	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGACGGGAAGCCAAAGCAGAA	0.582																																					p.P288S		.											.	PPIE	90	0			c.C862T						.						133.0	105.0	115.0					1																	40218983		2203	4300	6503	SO:0001583	missense	10450	exon10			GGGAAGCCAAAGC	AF042385	CCDS442.1, CCDS443.1, CCDS53299.1	1p32	2013-02-12			ENSG00000084072	ENSG00000084072		"""RNA binding motif (RRM) containing"""	9258	protein-coding gene	gene with protein product	"""peptidyl-prolyl cis-trans isomerase E"", ""cyclophilin 33"", ""cyclophilin E"", ""PPIase E"", ""rotamase E"", ""peptidylprolyl isomerase E, isoform 1"""	602435				9747881	Standard	NM_203456		Approved	CyP-33, MGC3736, MGC111222	uc001cdw.3	Q9UNP9	OTTHUMG00000009248	ENST00000324379.5:c.862C>T	1.37:g.40218983C>T	ENSP00000312769:p.Pro288Ser	128.0	0.0		43.0	4.0	NM_006112	B2R971|O43634|O43635|Q32Q72|Q3S611|Q5TGA0|Q5TGA2|Q5TGA3|Q9UIZ5	Missense_Mutation	SNP	ENST00000324379.5	37	CCDS443.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.358716	0.61403	.	.	ENSG00000084072	ENST00000324379;ENST00000372835	T;T	0.58797	0.31;0.31	4.35	4.35	0.52113	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	.	.	.	.	T	0.76983	0.4064	H	0.96833	3.89	0.80722	D	1	P;P	0.42248	0.774;0.571	P;B	0.46253	0.509;0.232	D	0.85144	0.0982	9	0.56958	D	0.05	.	17.0155	0.86418	0.0:1.0:0.0:0.0	.	209;288	B4E3F2;Q9UNP9	.;PPIE_HUMAN	S	288;237	ENSP00000312769:P288S;ENSP00000361925:P237S	ENSP00000312769:P288S	P	+	1	0	PPIE	39991570	0.994000	0.37717	0.995000	0.50966	0.996000	0.88848	2.789000	0.47813	2.422000	0.82143	0.563000	0.77884	CCA	.		0.582	PPIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025642.2	NM_006112	
PPP4R1	9989	ucsc.edu;bcgsc.ca	37	18	9595031	9595031	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr18:9595031T>C	ENST00000400556.3	-	3	246	c.173A>G	c.(172-174)gAg>gGg	p.E58G	PPP4R1_ENST00000580583.1_5'UTR|PPP4R1_ENST00000400555.3_Missense_Mutation_p.E41G	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	58					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						AAATATGTTCTCACTTGCAGC	0.388																																					p.E58G	Melanoma(188;1232 2082 5061 11948 35994)	.											.	PPP4R1	227	0			c.A173G						.						167.0	152.0	156.0					18																	9595031		1883	4110	5993	SO:0001583	missense	9989	exon3			ATGTTCTCACTTG	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.173A>G	18.37:g.9595031T>C	ENSP00000383402:p.Glu58Gly	62.0	0.0		48.0	4.0	NM_001042388	Q99774|Q9UNQ7	Missense_Mutation	SNP	ENST00000400556.3	37	CCDS42412.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.56|14.56	2.573087|2.573087	0.45902|0.45902	.|.	.|.	ENSG00000154845|ENSG00000154845	ENST00000400556;ENST00000400555|ENST00000285124	T;T|.	0.33216|.	1.42;1.42|.	4.79|4.79	4.79|4.79	0.61399|0.61399	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.119093|.	0.53938|.	D|.	0.000043|.	T|T	0.69296|0.69296	0.3095|0.3095	L|L	0.58101|0.58101	1.795|1.795	0.58432|0.58432	D|D	0.999993|0.999993	D;D;D|.	0.89917|.	0.999;0.999;1.0|.	D;D;D|.	0.74023|.	0.971;0.96;0.982|.	T|T	0.68409|0.68409	-0.5416|-0.5416	9|5	.|.	.|.	.|.	-25.9829|-25.9829	14.7742|14.7742	0.69703|0.69703	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	41;58;41|.	A8K923;Q8TF05;Q8TF05-2|.	.;PP4R1_HUMAN;.|.	G|G	58;41|5	ENSP00000383402:E58G;ENSP00000383401:E41G|.	.|.	E|R	-|-	2|1	0|2	PPP4R1|PPP4R1	9585031|9585031	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	7.425000|7.425000	0.80255|0.80255	2.143000|2.143000	0.66587|0.66587	0.533000|0.533000	0.62120|0.62120	GAG|AGA	.		0.388	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134	
PRRG1	5638	hgsc.bcm.edu;bcgsc.ca	37	X	37312753	37312753	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chrX:37312753T>C	ENST00000542554.1	+	5	808	c.536T>C	c.(535-537)gTg>gCg	p.V179A	PRRG1_ENST00000449135.2_Missense_Mutation_p.V179A|PRRG1_ENST00000378628.4_Missense_Mutation_p.V179A|PRRG1_ENST00000543642.1_Missense_Mutation_p.V179A|PRRG1_ENST00000491253.1_3'UTR|TM4SF2_ENST00000465127.1_Intron	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	179						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						ACTGGCCAAGTGAACCTGCAG	0.532																																					p.V179A		.											.	PRRG1	194	0			c.T536C						.						76.0	60.0	65.0					X																	37312753		2202	4300	6502	SO:0001583	missense	5638	exon4			GCCAAGTGAACCT	AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"""			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.536T>C	X.37:g.37312753T>C	ENSP00000444278:p.Val179Ala	66.0	0.0		55.0	4.0	NM_001173490	B2R7A3|C9JXL7|D3DWA9|Q5JT66	Missense_Mutation	SNP	ENST00000542554.1	37	CCDS14239.1	.	.	.	.	.	.	.	.	.	.	T	2.735	-0.263540	0.05754	.	.	ENSG00000130962	ENST00000378628;ENST00000542554;ENST00000543642;ENST00000449135	D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08	5.96	1.87	0.25490	.	0.984876	0.08327	N	0.962944	D	0.91975	0.7458	N	0.02539	-0.55	0.20563	N	0.999886	B	0.06786	0.001	B	0.09377	0.004	D	0.86637	0.1889	10	0.07482	T	0.82	-0.158	5.6786	0.17763	0.0:0.2582:0.1376:0.6043	.	179	O14668	TMG1_HUMAN	A	179	ENSP00000367894:V179A;ENSP00000444278:V179A;ENSP00000443271:V179A;ENSP00000390332:V179A	ENSP00000367894:V179A	V	+	2	0	PRRG1	37197674	0.958000	0.32768	1.000000	0.80357	0.996000	0.88848	0.102000	0.15272	0.341000	0.23771	0.486000	0.48141	GTG	.		0.532	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2	NM_000950	
PSMC4	5704	hgsc.bcm.edu;bcgsc.ca	37	19	40480515	40480515	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr19:40480515T>C	ENST00000157812.2	+	5	752	c.554T>C	c.(553-555)cTc>cCc	p.L185P	PSMC4_ENST00000455878.2_Missense_Mutation_p.L154P	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	185				L -> V (in Ref. 4; AAC32612). {ECO:0000305}.	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GAGCTCCCGCTCACGCATTTC	0.627																																					p.L185P	Colon(105;1478 1543 4034 6132 38638)	.											.	PSMC4	91	0			c.T554C						.						55.0	59.0	58.0					19																	40480515		2203	4300	6503	SO:0001583	missense	5704	exon5			TCCCGCTCACGCA	U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9551	protein-coding gene	gene with protein product	"""protease 26S subunit 6"", ""Tat-binding protein 7"", ""MB67 interacting protein"""	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.554T>C	19.37:g.40480515T>C	ENSP00000157812:p.Leu185Pro	94.0	0.0		62.0	4.0	NM_006503	Q96FV5|Q9UBM3|Q9UEX3	Missense_Mutation	SNP	ENST00000157812.2	37	CCDS12547.1	.	.	.	.	.	.	.	.	.	.	t	15.52	2.856524	0.51376	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.95622	-3.76;-3.76	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.98163	0.9393	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99184	1.0868	10	0.87932	D	0	-5.5019	13.1587	0.59533	0.0:0.0:0.0:1.0	.	154;185	P43686-2;P43686	.;PRS6B_HUMAN	P	185;154	ENSP00000157812:L185P;ENSP00000413869:L154P	ENSP00000157812:L185P	L	+	2	0	PSMC4	45172355	1.000000	0.71417	0.042000	0.18584	0.068000	0.16541	6.066000	0.71185	1.986000	0.57962	0.459000	0.35465	CTC	.		0.627	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	NM_006503	
PTPN5	84867	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	18754887	18754887	+	Silent	SNP	G	G	A	rs144666949		TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr11:18754887G>A	ENST00000358540.2	-	11	1543	c.1113C>T	c.(1111-1113)gcC>gcT	p.A371A	PTPN5_ENST00000396170.1_Silent_p.A339A|PTPN5_ENST00000477854.1_Silent_p.A175A|PTPN5_ENST00000396166.3_5'Flank|PTPN5_ENST00000396171.4_Silent_p.A371A|PTPN5_ENST00000396167.2_Silent_p.A339A|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396168.1_Silent_p.A347A	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	371	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GTCCCTGAGTGGCGATGTACA	0.612																																					p.A371A		.											.	PTPN5	229	0			c.C1113T						.	G	,,	1,4397	2.1+/-5.4	0,1,2198	180.0	143.0	155.0		1017,1113,1113	4.5	1.0	11	dbSNP_134	155	0,8586		0,0,4293	no	coding-synonymous,coding-synonymous,coding-synonymous	PTPN5	NM_001039970.1,NM_006906.1,NM_032781.3	,,	0,1,6491	AA,AG,GG		0.0,0.0227,0.0077	,,	339/534,371/566,371/566	18754887	1,12983	2199	4293	6492	SO:0001819	synonymous_variant	84867	exon11			CTGAGTGGCGATG	BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.1113C>T	11.37:g.18754887G>A		95.0	0.0		86.0	27.0	NM_032781	B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Silent	SNP	ENST00000358540.2	37	CCDS7845.1																																																																																			G|1.000;A|0.000		0.612	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970	
PXDNL	137902	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	52321594	52321594	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr8:52321594G>A	ENST00000356297.4	-	17	2690	c.2590C>T	c.(2590-2592)Cgc>Tgc	p.R864C	PXDNL_ENST00000543296.1_Missense_Mutation_p.R864C	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	864					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R864C(1)|p.R63C(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGGCTGGAGCGCGCGAAGAGC	0.662																																					p.R864C		.											.	PXDNL	70	2	Substitution - Missense(2)	large_intestine(2)	c.C2590T						.						22.0	26.0	25.0					8																	52321594		2026	4158	6184	SO:0001583	missense	137902	exon17			TGGAGCGCGCGAA		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2590C>T	8.37:g.52321594G>A	ENSP00000348645:p.Arg864Cys	87.0	0.0		100.0	6.0	NM_144651	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336473	0.24253	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	D;D	0.84800	-1.9;-1.9	3.31	0.304	0.15796	.	0.272281	0.26156	N	0.026002	D	0.94128	0.8117	H	0.99286	4.5	0.44123	D	0.996903	D	0.89917	1.0	D	0.91635	0.999	D	0.89382	0.3682	10	0.87932	D	0	.	4.8892	0.13719	0.22:0.1755:0.6045:0.0	.	864	A1KZ92	PXDNL_HUMAN	C	864	ENSP00000348645:R864C;ENSP00000444865:R864C	ENSP00000348645:R864C	R	-	1	0	PXDNL	52484147	1.000000	0.71417	0.029000	0.17559	0.003000	0.03518	2.981000	0.49329	-0.220000	0.09988	-0.898000	0.02899	CGC	.		0.662	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651	
PZP	5858	hgsc.bcm.edu;bcgsc.ca	37	12	9318700	9318700	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr12:9318700T>C	ENST00000261336.2	-	18	2234	c.2206A>G	c.(2206-2208)Acg>Gcg	p.T736A	PZP_ENST00000381997.2_Missense_Mutation_p.T605A|PZP_ENST00000539983.1_5'UTR	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	736					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CTTCGCACCGTTTCAGGGACT	0.448																																					p.T736A	Melanoma(125;1402 1695 4685 34487 38571)	.											.	PZP	157	0			c.A2206G						.						143.0	134.0	137.0					12																	9318700		2203	4300	6503	SO:0001583	missense	5858	exon18			GCACCGTTTCAGG	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2206A>G	12.37:g.9318700T>C	ENSP00000261336:p.Thr736Ala	143.0	0.0		74.0	4.0	NM_002864	A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	T	13.51	2.258979	0.39896	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.37752	1.47;1.18	3.58	2.42	0.29668	.	0.243635	0.20220	U	0.096705	T	0.38081	0.1027	L	0.29908	0.895	0.20307	N	0.999916	P;D;P	0.54772	0.85;0.968;0.85	P;P;P	0.59115	0.507;0.852;0.507	T	0.10800	-1.0614	10	0.87932	D	0	.	6.6954	0.23195	0.0:0.1177:0.0:0.8823	.	736;605;736	B2R950;P20742-2;P20742	.;.;PZP_HUMAN	A	736;605	ENSP00000261336:T736A;ENSP00000371427:T605A	ENSP00000261336:T736A	T	-	1	0	PZP	9209967	0.963000	0.33076	0.004000	0.12327	0.352000	0.29268	2.567000	0.45956	0.533000	0.28675	0.383000	0.25322	ACG	.		0.448	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864	
PXN	5829	hgsc.bcm.edu;bcgsc.ca	37	12	120651722	120651722	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr12:120651722C>A	ENST00000228307.7	-	11	1573	c.1432G>T	c.(1432-1434)Ggc>Tgc	p.G478C	PXN-AS1_ENST00000535200.1_RNA|PXN-AS1_ENST00000542265.1_RNA|PXN-AS1_ENST00000539446.1_RNA|PXN_ENST00000536957.1_Missense_Mutation_p.G476C|PXN_ENST00000458477.2_Missense_Mutation_p.G311C|PXN_ENST00000424649.2_Missense_Mutation_p.G444C|PXN_ENST00000267257.7_Missense_Mutation_p.G492C|PXN_ENST00000397506.3_Missense_Mutation_p.G290C|PXN_ENST00000538144.1_5'UTR	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	478	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGGCGCAGCCGCCACACTTG	0.602																																					p.G492C		.											.	PXN	660	0			c.G1474T						.						29.0	39.0	35.0					12																	120651722		2033	4178	6211	SO:0001583	missense	5829	exon10			CGCAGCCGCCACA	U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.1432G>T	12.37:g.120651722C>A	ENSP00000228307:p.Gly478Cys	103.0	0.0		71.0	4.0	NM_001243756	B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Missense_Mutation	SNP	ENST00000228307.7	37	CCDS44997.1	.	.	.	.	.	.	.	.	.	.	C	33	5.255159	0.95336	.	.	ENSG00000089159	ENST00000458477;ENST00000228307;ENST00000424649;ENST00000536957;ENST00000267257;ENST00000397506;ENST00000331257;ENST00000541856	D;D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46;-2.46	5.51	5.51	0.81932	Zinc finger, LIM-type (5);	.	.	.	.	D	0.96352	0.8810	H	0.94264	3.515	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.998;0.999	D	0.97152	0.9832	9	0.87932	D	0	.	19.4166	0.94703	0.0:1.0:0.0:0.0	.	444;492;290;478	P49023-2;P49023-3;E7EMK8;P49023	.;.;.;PAXI_HUMAN	C	311;478;444;476;492;290;106;203	ENSP00000395536:G311C;ENSP00000228307:G478C;ENSP00000391283:G444C;ENSP00000443887:G476C;ENSP00000267257:G492C;ENSP00000380643:G290C	ENSP00000228307:G478C	G	-	1	0	PXN	119136105	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	7.675000	0.84002	2.598000	0.87819	0.561000	0.74099	GGC	.		0.602	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859	
RALBP1	10928	bcgsc.ca;mdanderson.org	37	18	9535701	9535701	+	Silent	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_1	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr18:9535701T>C	ENST00000019317.4	+	10	1957	c.1734T>C	c.(1732-1734)caT>caC	p.H578H	RALBP1_ENST00000383432.3_Silent_p.H578H			Q15311	RBP1_HUMAN	ralA binding protein 1	578					ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	AAGCAATTCATGAGGAGCGCG	0.552																																					p.H578H		.											.	RALBP1	522	0			c.T1734C						.						24.0	21.0	22.0					18																	9535701		2203	4299	6502	SO:0001819	synonymous_variant	10928	exon10			AATTCATGAGGAG	L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.1734T>C	18.37:g.9535701T>C		29.0	0.0		18.0	3.0	NM_006788	D3DUI0	Silent	SNP	ENST00000019317.4	37	CCDS11845.1																																																																																			.		0.552	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254479.1	NM_006788	
RBBP8	5932	hgsc.bcm.edu;bcgsc.ca	37	18	20572755	20572755	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr18:20572755C>A	ENST00000399722.2	+	11	1316	c.965C>A	c.(964-966)cCt>cAt	p.P322H	RBBP8_ENST00000399725.2_Missense_Mutation_p.P322H|RBBP8_ENST00000327155.5_Missense_Mutation_p.P322H|RBBP8_ENST00000360790.5_Missense_Mutation_p.P322H	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	322					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GAAGAATTACCTACTCGAGTG	0.343								Homologous recombination																													p.P322H		.											.	RBBP8	659	0			c.C965A						.						83.0	87.0	86.0					18																	20572755		2194	4299	6493	SO:0001583	missense	5932	exon11			AATTACCTACTCG	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.965C>A	18.37:g.20572755C>A	ENSP00000382628:p.Pro322His	130.0	0.0		81.0	4.0	NM_203292	A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	ENST00000399722.2	37	CCDS11875.1	.	.	.	.	.	.	.	.	.	.	C	5.738	0.320620	0.10845	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	T;T;T;T;T	0.28895	1.6;1.59;1.6;1.6;1.6	5.99	2.83	0.33086	.	0.927132	0.09296	N	0.821685	T	0.15912	0.0383	N	0.14661	0.345	0.18873	N	0.999985	B;B;B	0.13145	0.007;0.001;0.007	B;B;B	0.08055	0.003;0.001;0.003	T	0.16867	-1.0388	10	0.33141	T	0.24	-0.2581	3.2437	0.06789	0.3661:0.425:0.1194:0.0895	.	322;322;322	E7ETY1;A6NKN2;Q99708	.;.;COM1_HUMAN	H	322	ENSP00000323050:P322H;ENSP00000382630:P322H;ENSP00000382628:P322H;ENSP00000382627:P322H;ENSP00000354024:P322H	ENSP00000323050:P322H	P	+	2	0	RBBP8	18826753	0.036000	0.19791	0.016000	0.15963	0.197000	0.23852	1.117000	0.31234	1.500000	0.48636	0.655000	0.94253	CCT	.		0.343	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291	
RBBP8	5932	hgsc.bcm.edu;bcgsc.ca	37	18	20573367	20573367	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr18:20573367A>G	ENST00000399722.2	+	11	1928	c.1577A>G	c.(1576-1578)aAg>aGg	p.K526R	RBBP8_ENST00000399725.2_Missense_Mutation_p.K526R|RBBP8_ENST00000327155.5_Missense_Mutation_p.K526R|RBBP8_ENST00000360790.5_Missense_Mutation_p.K526R	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	526	Damage-recruitment motif.				blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GAGGCTTTGAAGACCATTCCA	0.468								Homologous recombination																													p.K526R		.											.	RBBP8	659	0			c.A1577G						.						43.0	44.0	44.0					18																	20573367		2198	4300	6498	SO:0001583	missense	5932	exon11			CTTTGAAGACCAT	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.1577A>G	18.37:g.20573367A>G	ENSP00000382628:p.Lys526Arg	123.0	0.0		61.0	4.0	NM_203292	A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	ENST00000399722.2	37	CCDS11875.1	.	.	.	.	.	.	.	.	.	.	A	19.47	3.833246	0.71258	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	T;T;T;T;T	0.38401	1.21;1.14;1.21;1.2;1.21	5.97	5.97	0.96955	.	0.503154	0.22734	N	0.056284	T	0.59878	0.2226	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.991	D;D;P	0.83275	0.922;0.996;0.79	T	0.62167	-0.6911	10	0.66056	D	0.02	-11.2765	14.2018	0.65710	1.0:0.0:0.0:0.0	.	526;526;526	E7ETY1;A6NKN2;Q99708	.;.;COM1_HUMAN	R	526	ENSP00000323050:K526R;ENSP00000382630:K526R;ENSP00000382628:K526R;ENSP00000382627:K526R;ENSP00000354024:K526R	ENSP00000323050:K526R	K	+	2	0	RBBP8	18827365	0.999000	0.42202	0.997000	0.53966	0.613000	0.37349	4.236000	0.58675	2.288000	0.76882	0.533000	0.62120	AAG	.		0.468	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291	
RBM10	8241	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	47041174	47041185	+	In_Frame_Del	DEL	GCTCAAATCTGA	GCTCAAATCTGA	-	rs150665564		TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	GCTCAAATCTGA	GCTCAAATCTGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chrX:47041174_47041185delGCTCAAATCTGA	ENST00000377604.3	+	15	2344_2355	c.1602_1613delGCTCAAATCTGA	c.(1600-1614)gtgctcaaatctgag>gtg	p.LKSE535del	RBM10_ENST00000329236.7_In_Frame_Del_p.LKSE457del|RBM10_ENST00000345781.6_In_Frame_Del_p.LKSE458del	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	535					3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CACCCGCTGTGCTCAAATCTGAGCTCCAGAGC	0.618																																					p.599_603del	Melanoma(171;120 2705 19495 39241)	.											.	RBM10	626	0			c.1797_1808del						.																																			SO:0001651	inframe_deletion	8241	exon15			CGCTGTGCTCAAA	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.1602_1613delGCTCAAATCTGA	X.37:g.47041174_47041185delGCTCAAATCTGA	ENSP00000366829:p.Leu535_Glu538del	111.0	0.0		31.0	18.0	NM_001204468	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	In_Frame_Del	DEL	ENST00000377604.3	37	CCDS14274.1																																																																																			.		0.618	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676	
RCN2	5955	hgsc.bcm.edu;bcgsc.ca	37	15	77241444	77241444	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr15:77241444G>T	ENST00000394885.3	+	7	1058	c.835G>T	c.(835-837)Ggt>Tgt	p.G279C	RCN2_ENST00000320963.5_Missense_Mutation_p.G297C|RCN2_ENST00000394883.3_Missense_Mutation_p.G178C	NM_002902.2	NP_002893.1	Q14257	RCN2_HUMAN	reticulocalbin 2, EF-hand calcium binding domain	279	EF-hand 6. {ECO:0000255|PROSITE- ProRule:PRU00448}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(2)|large_intestine(2)|lung(1)	7						GGATTTGAATGGTGACAAAAA	0.363																																					p.G297C		.											.	RCN2	90	0			c.G889T						.						124.0	135.0	131.0					15																	77241444		2196	4294	6490	SO:0001583	missense	5955	exon8			TTGAATGGTGACA	X78669	CCDS10291.1, CCDS61719.1	15q22.33-q24.1	2013-01-10			ENSG00000117906	ENSG00000117906		"""EF-hand domain containing"""	9935	protein-coding gene	gene with protein product	"""Reticulocalbin 2, EF-hand calcium binding domain (endoplasmic reticulum calcium-binding protein, 55kD)"""	602584				9533013, 7624774	Standard	NM_002902		Approved	ERC-55, E6BP, ERC55, TCBP49	uc002bcd.3	Q14257	OTTHUMG00000143730	ENST00000394885.3:c.835G>T	15.37:g.77241444G>T	ENSP00000378349:p.Gly279Cys	62.0	0.0		74.0	5.0	NM_001271837	A8MTG6|F8WCY5|Q53XN8	Missense_Mutation	SNP	ENST00000394885.3	37	CCDS10291.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.531715	0.64972	.	.	ENSG00000117906	ENST00000394885;ENST00000320963;ENST00000394883	T;T;T	0.75050	-0.9;-0.9;-0.9	6.05	1.74	0.24563	EF-hand-like domain (1);	0.397599	0.32736	N	0.005703	T	0.81173	0.4767	M	0.79614	2.46	0.36877	D	0.889217	D;P;P	0.63880	0.993;0.929;0.78	P;P;P	0.60173	0.87;0.599;0.526	T	0.82360	-0.0496	10	0.72032	D	0.01	-4.3565	8.1976	0.31407	0.3611:0.0:0.6389:0.0	.	178;297;279	A8MXP8;F8WCY5;Q14257	.;.;RCN2_HUMAN	C	279;297;178	ENSP00000378349:G279C;ENSP00000319739:G297C;ENSP00000378347:G178C	ENSP00000319739:G297C	G	+	1	0	RCN2	75028499	1.000000	0.71417	0.433000	0.26760	0.997000	0.91878	4.217000	0.58547	0.324000	0.23333	0.650000	0.86243	GGT	.		0.363	RCN2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289795.1	NM_002902	
RCOR2	283248	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	63680389	63680389	+	Silent	SNP	G	G	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr11:63680389G>A	ENST00000301459.4	-	9	1309	c.922C>T	c.(922-924)Ctg>Ttg	p.L308L	RCOR2_ENST00000473926.2_5'Flank	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	308					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						GCTTGGCGCAGGCTGCTGTTC	0.587																																					p.L308L		.											.	RCOR2	92	0			c.C922T						.						56.0	44.0	48.0					11																	63680389		2201	4297	6498	SO:0001819	synonymous_variant	283248	exon9			GGCGCAGGCTGCT	BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472	ENST00000301459.4:c.922C>T	11.37:g.63680389G>A		101.0	0.0		54.0	14.0	NM_173587	Q96FP3	Silent	SNP	ENST00000301459.4	37	CCDS8052.1																																																																																			.		0.587	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318233.1	NM_173587	
RCOR2	283248	hgsc.bcm.edu;bcgsc.ca	37	11	63680410	63680410	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr11:63680410T>C	ENST00000301459.4	-	9	1288	c.901A>G	c.(901-903)Atg>Gtg	p.M301V	RCOR2_ENST00000473926.2_5'Flank	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	301					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						GTCTGCTTCATGCTCTGTACC	0.577																																					p.M301V		.											.	RCOR2	92	0			c.A901G						.						52.0	40.0	44.0					11																	63680410		2200	4297	6497	SO:0001583	missense	283248	exon9			GCTTCATGCTCTG	BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472	ENST00000301459.4:c.901A>G	11.37:g.63680410T>C	ENSP00000301459:p.Met301Val	89.0	0.0		52.0	4.0	NM_173587	Q96FP3	Missense_Mutation	SNP	ENST00000301459.4	37	CCDS8052.1	.	.	.	.	.	.	.	.	.	.	T	12.48	1.950469	0.34377	.	.	ENSG00000167771	ENST00000301459	T	0.40476	1.03	4.56	4.56	0.56223	.	0.097021	0.64402	D	0.000001	T	0.20659	0.0497	N	0.03608	-0.345	0.28674	N	0.905484	B	0.02656	0.0	B	0.04013	0.001	T	0.09015	-1.0694	10	0.23891	T	0.37	.	13.3293	0.60477	0.0:0.0:0.0:1.0	.	301	Q8IZ40	RCOR2_HUMAN	V	301	ENSP00000301459:M301V	ENSP00000301459:M301V	M	-	1	0	RCOR2	63436986	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.651000	0.54431	2.053000	0.61076	0.459000	0.35465	ATG	.		0.577	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318233.1	NM_173587	
LRRC14	9684	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	8	145740718	145740718	+	5'Flank	SNP	T	T	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr8:145740718T>A	ENST00000292524.1	+	0	0				RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA|LRRC14_ENST00000529022.1_5'Flank|RECQL4_ENST00000428558.2_Missense_Mutation_p.Q461L	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14											endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			ACCTGCCAACTGCCCTGAGGG	0.617																																					p.Q461L		.											.	RECQL4	1083	0			c.A1382T						.						38.0	44.0	42.0					8																	145740718		2050	4208	6258	SO:0001631	upstream_gene_variant	9401	exon7			GCCAACTGCCCTG	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179		8.37:g.145740718T>A	Exception_encountered	154.0	0.0		166.0	10.0	NM_004260	A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	CCDS6432.1																																																																																			.		0.617	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665	
REV3L	5980	hgsc.bcm.edu;bcgsc.ca	37	6	111686477	111686477	+	Silent	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr6:111686477T>C	ENST00000358835.3	-	16	7198	c.6744A>G	c.(6742-6744)acA>acG	p.T2248T	REV3L_ENST00000368805.1_Silent_p.T2248T|REV3L_ENST00000368802.3_Silent_p.T2248T|REV3L_ENST00000435970.1_Silent_p.T2170T			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2248					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CCTTTGCTTGTGTTAACAGTA	0.294								DNA polymerases (catalytic subunits)																													p.T2248T		.											.	REV3L	294	0			c.A6744G						.						129.0	120.0	123.0					6																	111686477		2198	4297	6495	SO:0001819	synonymous_variant	5980	exon15			TGCTTGTGTTAAC	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.6744A>G	6.37:g.111686477T>C		162.0	0.0		89.0	4.0	NM_002912	O43214|Q5TC33	Silent	SNP	ENST00000358835.3	37	CCDS5091.2																																																																																			.		0.294	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912	
RIMBP3B	440804	broad.mit.edu;bcgsc.ca;mdanderson.org	37	22	21742770	21742770	+	Silent	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr22:21742770C>T	ENST00000434111.1	+	1	5108	c.4623C>T	c.(4621-4623)gcC>gcT	p.A1541A	SCARNA17_ENST00000516211.1_RNA|RN7SKP63_ENST00000363187.1_RNA|SCARNA18_ENST00000516505.1_RNA	NM_001128635.1	NP_001122107.1	A6NNM3	RIM3B_HUMAN	RIMS binding protein 3B	1541																	CTTCTGTGGCCCACCTCGAGG	0.617																																					p.A1541A		.											.	.	.	0			c.C4623T						.						53.0	65.0	61.0					22																	21742770		692	1591	2283	SO:0001819	synonymous_variant	150221	exon1			TGTGGCCCACCTC		CCDS46668.1	22q11.21	2008-10-23			ENSG00000196934	ENSG00000274600			33891	protein-coding gene	gene with protein product		612700				17855024	Standard	NM_001128635		Approved			A6NNM3	OTTHUMG00000150819	ENST00000434111.1:c.4623C>T	22.37:g.21742770C>T		1272.0	0.0		1272.0	258.0	NM_001128633		Silent	SNP	ENST00000434111.1	37	CCDS46668.1																																																																																			.		0.617	RIMBP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320196.2	XM_036936	
RNF139	11236	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	8	125487462	125487462	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr8:125487462T>C	ENST00000303545.3	+	1	484	c.112T>C	c.(112-114)Ttc>Ctc	p.F38L	RNF139-AS1_ENST00000499418.2_lincRNA	NM_007218.3	NP_009149.2			ring finger protein 139											breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CGACGCCATCTTCAACTCCTA	0.637																																					p.F38L		.											.	RNF139	226	0			c.T112C						.						81.0	84.0	83.0					8																	125487462		2203	4300	6503	SO:0001583	missense	11236	exon1			GCCATCTTCAACT	AF064801	CCDS6350.1	8q24	2013-01-09			ENSG00000170881	ENSG00000170881		"""RING-type (C3HC4) zinc fingers"""	17023	protein-coding gene	gene with protein product		603046				9689122	Standard	NM_007218		Approved	TRC8, RCA1, HRCA1	uc003yrc.3	Q8WU17	OTTHUMG00000165072	ENST00000303545.3:c.112T>C	8.37:g.125487462T>C	ENSP00000304051:p.Phe38Leu	66.0	0.0		58.0	6.0	NM_007218		Missense_Mutation	SNP	ENST00000303545.3	37	CCDS6350.1	.	.	.	.	.	.	.	.	.	.	T	6.611	0.481042	0.12581	.	.	ENSG00000170881	ENST00000303545	T	0.28069	1.63	4.44	3.3	0.37823	.	0.214512	0.40469	N	0.001094	T	0.12220	0.0297	N	0.04090	-0.28	0.37178	D	0.903345	B	0.06786	0.001	B	0.08055	0.003	T	0.13229	-1.0517	10	0.17832	T	0.49	-8.4438	7.4699	0.27342	0.0:0.1002:0.0:0.8998	.	38	Q8WU17	RN139_HUMAN	L	38	ENSP00000304051:F38L	ENSP00000304051:F38L	F	+	1	0	RNF139	125556643	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	5.377000	0.66184	0.759000	0.33084	0.459000	0.35465	TTC	.		0.637	RNF139-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381692.1	NM_007218	
RPIA	22934	hgsc.bcm.edu;bcgsc.ca	37	2	89036184	89036184	+	Silent	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr2:89036184C>T	ENST00000283646.4	+	7	784	c.729C>T	c.(727-729)gtC>gtT	p.V243V		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	243					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|ribose phosphate metabolic process (GO:0019693)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	monosaccharide binding (GO:0048029)|ribose-5-phosphate isomerase activity (GO:0004751)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				GAATGGCTGTCAACAAGGCTG	0.572																																					p.V243V		.											.	RPIA	91	0			c.C729T						.						133.0	146.0	142.0					2																	89036184		2030	4187	6217	SO:0001819	synonymous_variant	22934	exon7			GGCTGTCAACAAG	L35035	CCDS2004.2	2p11.2	2008-07-31	2008-07-31		ENSG00000153574	ENSG00000153574	5.3.1.6		10297	protein-coding gene	gene with protein product	"""ribose 5-phosphate epimerase"""	180430				7758956	Standard	NM_144563		Approved		uc002ste.3	P49247	OTTHUMG00000130333	ENST00000283646.4:c.729C>T	2.37:g.89036184C>T		94.0	0.0		70.0	4.0	NM_144563	Q541P9|Q96BJ6	Silent	SNP	ENST00000283646.4	37	CCDS2004.2																																																																																			.		0.572	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252683.2		
RRBP1	6238	hgsc.bcm.edu;bcgsc.ca	37	20	17596120	17596120	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr20:17596120C>A	ENST00000377813.1	-	23	4309	c.4006G>T	c.(4006-4008)Ggc>Tgc	p.G1336C	RRBP1_ENST00000455029.2_Missense_Mutation_p.G677C|RRBP1_ENST00000360807.4_Missense_Mutation_p.G903C|RRBP1_ENST00000377807.2_Missense_Mutation_p.G903C|RRBP1_ENST00000470422.1_5'UTR|RRBP1_ENST00000246043.4_Missense_Mutation_p.G1336C			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1336					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TCTAGGGGGCCGGCTGTGCGG	0.617																																					p.G903C		.											.	RRBP1	92	0			c.G2707T						.						50.0	52.0	51.0					20																	17596120		2203	4300	6503	SO:0001583	missense	6238	exon23			GGGGGCCGGCTGT	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.4006G>T	20.37:g.17596120C>A	ENSP00000367044:p.Gly1336Cys	76.0	0.0		55.0	4.0	NM_004587	A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37		.	.	.	.	.	.	.	.	.	.	C	14.04	2.415869	0.42817	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.13	-1.17	0.09648	.	1.187640	0.06414	N	0.721149	T	0.37073	0.0990	L	0.36672	1.1	0.09310	N	1	D;D	0.76494	0.999;0.988	P;P	0.60682	0.878;0.488	T	0.33214	-0.9877	10	0.56958	D	0.05	-1.2695	5.4546	0.16584	0.0:0.3958:0.1451:0.459	.	903;1336	Q9P2E9-3;Q9P2E9	.;RRBP1_HUMAN	C	903;1336;903;1336;677	ENSP00000354045:G903C;ENSP00000367044:G1336C;ENSP00000367038:G903C;ENSP00000246043:G1336C;ENSP00000401206:G677C	ENSP00000246043:G1336C	G	-	1	0	RRBP1	17544120	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.005000	0.13129	-0.106000	0.12110	-0.265000	0.10407	GGC	.		0.617	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576	
RRN3	54700	hgsc.bcm.edu;bcgsc.ca	37	16	15168676	15168676	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr16:15168676C>T	ENST00000198767.6	-	11	984	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	RRN3_ENST00000563559.1_Missense_Mutation_p.E301K|RRN3_ENST00000540462.1_Missense_Mutation_p.E119K|RRN3_ENST00000429751.2_Missense_Mutation_p.E271K|PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000327307.7_Missense_Mutation_p.E268K	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	301					cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						TCGAGCCGTTCAGGACCAGCC	0.408																																					p.E301K		.											.	RRN3	91	0			c.G901A						.						117.0	87.0	97.0					16																	15168676		2197	4300	6497	SO:0001583	missense	54700	exon11			GCCGTTCAGGACC	AF227156	CCDS10559.1, CCDS73833.1	16p13.11	2009-10-26	2006-04-04		ENSG00000085721	ENSG00000085721			30346	protein-coding gene	gene with protein product		605121	"""RRN3 RNA polymerase I transcription factor homolog (yeast)"""			10758157, 11250903	Standard	XM_005255375		Approved	DKFZp566E104	uc002dde.3	Q9NYV6	OTTHUMG00000129847	ENST00000198767.6:c.901G>A	16.37:g.15168676C>T	ENSP00000198767:p.Glu301Lys	119.0	0.0		71.0	4.0	NM_018427	A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0	Missense_Mutation	SNP	ENST00000198767.6	37	CCDS10559.1	.	.	.	.	.	.	.	.	.	.	.	0.242	-1.013088	0.02095	.	.	ENSG00000085721	ENST00000198767;ENST00000429751;ENST00000327307;ENST00000540462	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.52	-0.359	0.12571	.	1.706890	0.03358	N	0.197154	T	0.33469	0.0864	L	0.46157	1.445	0.09310	N	1	B;B;B	0.12630	0.006;0.001;0.0	B;B;B	0.15870	0.014;0.002;0.001	T	0.09552	-1.0669	10	0.15499	T	0.54	.	5.1958	0.15236	0.1117:0.2372:0.5061:0.145	.	271;202;301	F5H148;B4DZL9;Q9NYV6	.;.;RRN3_HUMAN	K	301;271;268;119	ENSP00000198767:E301K;ENSP00000402027:E271K;ENSP00000318484:E268K;ENSP00000437963:E119K	ENSP00000198767:E301K	E	-	1	0	RRN3	15076177	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.120000	0.15647	0.005000	0.14708	-0.254000	0.11334	GAA	.		0.408	RRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252087.2	NM_018427	
RYR2	6262	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	237947885	237947885	+	Silent	SNP	C	C	T	rs267598440		TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr1:237947885C>T	ENST00000366574.2	+	90	13190	c.12873C>T	c.(12871-12873)ttC>ttT	p.F4291F	RYR2_ENST00000542537.1_Silent_p.F4275F|RYR2_ENST00000360064.6_Silent_p.F4297F|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4291					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAGTATTTTCATGACCCTCT	0.478																																					p.F4291F		.											.	RYR2	158	0			c.C12873T						.						77.0	75.0	76.0					1																	237947885		1903	4117	6020	SO:0001819	synonymous_variant	6262	exon90			TATTTTCATGACC	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12873C>T	1.37:g.237947885C>T		69.0	0.0		42.0	4.0	NM_001035	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																			.		0.478	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
SALL1	6299	hgsc.bcm.edu;bcgsc.ca	37	16	51175284	51175284	+	Silent	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr16:51175284G>T	ENST00000251020.4	-	2	882	c.849C>A	c.(847-849)tcC>tcA	p.S283S	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000440970.1_Silent_p.S186S|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	283					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AACTTAGCGTGGACAAGGGGT	0.498																																					p.S283S	GBM(103;1352 1446 1855 4775 8890)	.											.	SALL1	98	0			c.C849A						.						91.0	91.0	91.0					16																	51175284		2198	4300	6498	SO:0001819	synonymous_variant	6299	exon2			TAGCGTGGACAAG	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.849C>A	16.37:g.51175284G>T		110.0	0.0		69.0	4.0	NM_002968	Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	CCDS10747.1																																																																																			.		0.498	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968	
SCUBE2	57758	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	9069079	9069079	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr11:9069079C>A	ENST00000309263.3	-	15	1811	c.1739G>T	c.(1738-1740)cGa>cTa	p.R580L	SCUBE2_ENST00000457346.2_Missense_Mutation_p.R609L|SCUBE2_ENST00000520467.1_Missense_Mutation_p.R609L|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000450649.2_Missense_Mutation_p.R454L			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	580						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CTTCTCGGTTCGCTTTACGAT	0.572																																					p.R609L		.											.	SCUBE2	92	0			c.G1826T						.						69.0	56.0	60.0					11																	9069079		2201	4296	6497	SO:0001583	missense	57758	exon16			TCGGTTCGCTTTA	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1739G>T	11.37:g.9069079C>A	ENSP00000310658:p.Arg580Leu	228.0	0.0		174.0	17.0	NM_020974	Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37		.	.	.	.	.	.	.	.	.	.	C	15.36	2.810857	0.50421	.	.	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	D;D;D;D	0.84370	-1.55;-1.65;-1.84;-1.81	5.21	4.28	0.50868	.	0.163887	0.49916	D	0.000133	D	0.85566	0.5726	M	0.73962	2.25	0.43959	D	0.996634	P;P;P	0.51537	0.946;0.664;0.534	P;B;B	0.47118	0.538;0.307;0.228	D	0.86791	0.1985	10	0.87932	D	0	.	9.3048	0.37867	0.0:0.7914:0.0:0.2086	.	454;609;580	Q9NQ36-3;Q9NQ36-2;Q9NQ36	.;.;SCUB2_HUMAN	L	609;580;454;609	ENSP00000390481:R609L;ENSP00000310658:R580L;ENSP00000415187:R454L;ENSP00000429969:R609L	ENSP00000310658:R580L	R	-	2	0	SCUBE2	9025655	0.932000	0.31603	0.974000	0.42286	0.772000	0.43724	1.679000	0.37597	2.603000	0.88011	0.655000	0.94253	CGA	.		0.572	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974	
SDK2	54549	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	71335078	71335078	+	Splice_Site	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr17:71335078C>T	ENST00000392650.3	-	45	6167	c.6167G>A	c.(6166-6168)gGa>gAa	p.G2056E	SDK2_ENST00000388726.3_Splice_Site_p.G2037E|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2056					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCTGTCACTTCCCTGGGAGGA	0.572																																					p.G2056E		.											.	SDK2	24	0			c.G6167A						.						127.0	119.0	122.0					17																	71335078		2203	4300	6503	SO:0001630	splice_region_variant	54549	exon45			TCACTTCCCTGGG	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.6166-1G>A	17.37:g.71335078C>T		565.0	0.0		537.0	279.0	NM_001144952	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227403	0.79576	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.60040	0.22;0.24;1.44	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.64571	0.2610	L	0.40543	1.245	0.58432	D	0.999999	D;P	0.52996	0.957;0.948	P;P	0.56612	0.71;0.802	T	0.68387	-0.5422	10	0.62326	D	0.03	.	17.3228	0.87240	0.0:1.0:0.0:0.0	.	2056;2037	Q58EX2;Q58EX2-3	SDK2_HUMAN;.	E	1680;2056;2037;1213;2056;397	ENSP00000376421:G2056E;ENSP00000373378:G2037E;ENSP00000407098:G1213E	ENSP00000324967:G2056E	G	-	2	0	SDK2	68846673	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.777000	0.55364	2.172000	0.68678	0.655000	0.94253	GGA	.		0.572	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064	Missense_Mutation
SEC14L6	730005	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	22	30921660	30921660	+	Silent	SNP	G	G	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr22:30921660G>C	ENST00000402034.2	-	10	848	c.849C>G	c.(847-849)tcC>tcG	p.S283S		NM_001193336.2	NP_001180265.2	B5MCN3	S14L6_HUMAN	SEC14-like 6 (S. cerevisiae)	283	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			lung(3)	3						CGCGGCCCACGGACCTCGTGT	0.622																																					p.S283S		.											.	.	.	0			c.C849G						.																																			SO:0001819	synonymous_variant	730005	exon10			GCCCACGGACCTC		CCDS54518.1	22q12.2	2011-05-06			ENSG00000214491	ENSG00000214491			40047	protein-coding gene	gene with protein product							Standard	NM_001193336		Approved		uc021wnu.1	B5MCN3	OTTHUMG00000151267	ENST00000402034.2:c.849C>G	22.37:g.30921660G>C		110.0	0.0		127.0	19.0	NM_001193336		Silent	SNP	ENST00000402034.2	37	CCDS54518.1	.	.	.	.	.	.	.	.	.	.	.	2.721	-0.266633	0.05754	.	.	ENSG00000214491	ENST00000437871	.	.	.	3.99	-7.97	0.01139	.	.	.	.	.	T	0.23133	0.0559	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.15037	-1.0451	4	.	.	.	-19.7776	5.7615	0.18203	0.5084:0.3218:0.0942:0.0757	.	.	.	.	G	88	.	.	R	-	1	0	SEC14L6	29251660	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.221000	0.00552	-3.033000	0.00265	-1.179000	0.01719	CGT	.		0.622	SEC14L6-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000322022.2		
SERPINI2	5276	ucsc.edu;bcgsc.ca	37	3	167164212	167164212	+	Missense_Mutation	SNP	G	G	T	rs371955082		TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr3:167164212G>T	ENST00000476257.1	-	9	1407	c.1109C>A	c.(1108-1110)cCa>cAa	p.P370Q	SERPINI2_ENST00000471111.1_Missense_Mutation_p.P370Q|SERPINI2_ENST00000264677.4_Missense_Mutation_p.P370Q|SERPINI2_ENST00000461846.1_Missense_Mutation_p.P370Q			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	370					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AAACAGAAATGGATGATTTGC	0.333																																					p.P380Q		.											.	SERPINI2	228	0			c.C1139A						.						111.0	122.0	118.0					3																	167164212		2203	4298	6501	SO:0001583	missense	5276	exon9			AGAAATGGATGAT	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.1109C>A	3.37:g.167164212G>T	ENSP00000420621:p.Pro370Gln	76.0	0.0		42.0	4.0	NM_001012303		Missense_Mutation	SNP	ENST00000476257.1	37	CCDS3200.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165613	0.38217	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111	D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47	5.61	4.74	0.60224	Serpin domain (3);Protease inhibitor I4, serpin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98157	0.9391	H	0.98238	4.18	0.43657	D	0.996072	D;D	0.69078	0.997;0.997	D;D	0.71870	0.975;0.975	D	0.98623	1.0668	10	0.87932	D	0	.	12.2753	0.54730	0.0825:0.0:0.9175:0.0	.	370;370	B4DDY9;O75830	.;SPI2_HUMAN	Q	370	ENSP00000420621:P370Q;ENSP00000417692:P370Q;ENSP00000264677:P370Q;ENSP00000419407:P370Q	ENSP00000264677:P370Q	P	-	2	0	SERPINI2	168646906	1.000000	0.71417	0.998000	0.56505	0.127000	0.20565	5.603000	0.67619	1.368000	0.46115	-0.142000	0.14014	CCA	.		0.333	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217	
SEZ6L2	26470	hgsc.bcm.edu;bcgsc.ca	37	16	29891258	29891258	+	Silent	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr16:29891258A>G	ENST00000308713.5	-	9	2027	c.1500T>C	c.(1498-1500)ccT>ccC	p.P500P	SEZ6L2_ENST00000350527.3_Silent_p.P430P|SEZ6L2_ENST00000346932.5_Silent_p.P386P|SEZ6L2_ENST00000537485.1_Silent_p.P456P	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	500	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGGGGGCCCAGGGGGCTCCA	0.612																																					p.P500P		.											.	SEZ6L2	92	0			c.T1500C						.						114.0	114.0	114.0					16																	29891258		2197	4300	6497	SO:0001819	synonymous_variant	26470	exon9			GGGCCCAGGGGGC	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1500T>C	16.37:g.29891258A>G		95.0	0.0		70.0	4.0	NM_001243332	B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Silent	SNP	ENST00000308713.5	37	CCDS10659.1																																																																																			.		0.612	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410	
SFXN2	118980	hgsc.bcm.edu;bcgsc.ca	37	10	104486433	104486433	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr10:104486433C>A	ENST00000369893.5	+	2	207	c.40C>A	c.(40-42)Cgt>Agt	p.R14S	SFXN2_ENST00000602785.1_3'UTR	NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2	14					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CGATGCCCCCCGTTGGGACCA	0.542																																					p.R14S		.											.	SFXN2	90	0			c.C40A						.						113.0	112.0	113.0					10																	104486433		2203	4300	6503	SO:0001583	missense	118980	exon2			GCCCCCCGTTGGG	AF462052	CCDS7539.1	10q24.32	2006-03-13			ENSG00000156398	ENSG00000156398		"""Sideroflexins"""	16086	protein-coding gene	gene with protein product		615570					Standard	NM_178858		Approved		uc001kwb.2	Q96NB2	OTTHUMG00000018967	ENST00000369893.5:c.40C>A	10.37:g.104486433C>A	ENSP00000358909:p.Arg14Ser	99.0	0.0		64.0	4.0	NM_178858	Q5JSM6	Missense_Mutation	SNP	ENST00000369893.5	37	CCDS7539.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357748	0.82243	.	.	ENSG00000156398	ENST00000369893	T	0.36340	1.26	5.49	5.49	0.81192	.	0.052777	0.85682	D	0.000000	T	0.55130	0.1901	M	0.90082	3.085	0.80722	D	1	P	0.43287	0.802	B	0.43445	0.42	T	0.66834	-0.5823	10	0.72032	D	0.01	0.0231	19.3785	0.94521	0.0:1.0:0.0:0.0	.	14	Q96NB2	SFXN2_HUMAN	S	14	ENSP00000358909:R14S	ENSP00000358909:R14S	R	+	1	0	SFXN2	104476423	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	4.918000	0.63376	2.566000	0.86566	0.561000	0.74099	CGT	.		0.542	SFXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050096.2	XM_058359	
SGCB	6443	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	52890227	52890227	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr4:52890227A>G	ENST00000381431.5	-	6	1075	c.853T>C	c.(853-855)Tac>Cac	p.Y285H	SGCB_ENST00000535450.1_Missense_Mutation_p.Y215H	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)	285	Cys-rich.				cardiac muscle cell development (GO:0055013)|muscle fiber development (GO:0048747)|muscle organ development (GO:0007517)|vascular smooth muscle cell development (GO:0097084)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CAGAGCTTGTAGCGTACCCAG	0.527																																					p.Y285H		.											.	SGCB	90	0			c.T853C						.						120.0	102.0	108.0					4																	52890227		2203	4300	6503	SO:0001583	missense	6443	exon6			GCTTGTAGCGTAC	U29586	CCDS3488.1	4q12	2014-09-17	2002-08-29		ENSG00000163069	ENSG00000163069			10806	protein-coding gene	gene with protein product		600900	"""sarcoglycan, beta (43kD dystrophin-associated glycoprotein)"""	LGMD2E		8968749	Standard	NM_000232		Approved	SGC, A3b	uc003gzj.2	Q16585	OTTHUMG00000128697	ENST00000381431.5:c.853T>C	4.37:g.52890227A>G	ENSP00000370839:p.Tyr285His	183.0	0.0		133.0	17.0	NM_000232	B7Z635|O00661	Missense_Mutation	SNP	ENST00000381431.5	37	CCDS3488.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.982405	0.74474	.	.	ENSG00000163069	ENST00000381431;ENST00000535450	D;D	0.96885	-4.16;-4.16	5.3	5.3	0.74995	.	0.055782	0.64402	D	0.000001	D	0.97433	0.9160	M	0.73217	2.22	0.53688	D	0.999974	D;D	0.56287	0.975;0.975	P;P	0.62298	0.9;0.845	D	0.98100	1.0414	10	0.87932	D	0	-31.5733	14.7196	0.69297	1.0:0.0:0.0:0.0	.	215;285	B7Z635;Q16585	.;SGCB_HUMAN	H	285;215	ENSP00000370839:Y285H;ENSP00000441199:Y215H	ENSP00000370839:Y285H	Y	-	1	0	SGCB	52584984	1.000000	0.71417	0.993000	0.49108	0.235000	0.25334	9.134000	0.94467	2.129000	0.65627	0.482000	0.46254	TAC	.		0.527	SGCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250596.2		
SH2D7	646892	hgsc.bcm.edu;bcgsc.ca	37	15	78386536	78386536	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr15:78386536T>C	ENST00000328828.5	+	2	259	c.259T>C	c.(259-261)Tcc>Ccc	p.S87P	SH2D7_ENST00000409568.2_5'UTR|SNORA63_ENST00000362763.1_RNA	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	87	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.									endometrium(2)|kidney(2)|lung(3)	7						CTACATCTTGTCCTACAGGTA	0.557																																					p.S87P		.											.	.	.	0			c.T259C						.						41.0	45.0	44.0					15																	78386536		2003	4172	6175	SO:0001583	missense	646892	exon2			ATCTTGTCCTACA		CCDS45315.1	15q25.1	2013-02-14			ENSG00000183476	ENSG00000183476		"""SH2 domain containing"""	34549	protein-coding gene	gene with protein product							Standard	NM_001101404		Approved	LOC646892	uc010blb.1	A6NKC9	OTTHUMG00000154271	ENST00000328828.5:c.259T>C	15.37:g.78386536T>C	ENSP00000327846:p.Ser87Pro	80.0	0.0		63.0	4.0	NM_001101404		Missense_Mutation	SNP	ENST00000328828.5	37	CCDS45315.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.373491	0.82573	.	.	ENSG00000183476	ENST00000328828	D	0.93426	-3.22	5.57	5.57	0.84162	SH2 motif (4);	.	.	.	.	D	0.98027	0.9350	H	0.98542	4.26	0.25221	N	0.989907	D	0.89917	1.0	D	0.91635	0.999	D	0.93691	0.7007	9	0.87932	D	0	.	12.1183	0.53878	0.0:0.0:0.0:1.0	.	87	A6NKC9	SH2D7_HUMAN	P	87	ENSP00000327846:S87P	ENSP00000327846:S87P	S	+	1	0	SH2D7	76173591	1.000000	0.71417	0.985000	0.45067	0.984000	0.73092	5.665000	0.68052	2.115000	0.64714	0.454000	0.30748	TCC	.		0.557	SH2D7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000334660.2	NM_001101404	
SHMT2	6472	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	57625269	57625269	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr12:57625269C>A	ENST00000328923.3	+	3	689	c.237C>A	c.(235-237)ttC>ttA	p.F79L	SHMT2_ENST00000553474.1_Missense_Mutation_p.F58L|SHMT2_ENST00000393827.4_Intron|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000557487.1_Missense_Mutation_p.F79L|SHMT2_ENST00000449049.3_Missense_Mutation_p.F58L|SHMT2_ENST00000414700.3_Missense_Mutation_p.F58L	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	79					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	CCCAGAACTTCTGCAGCCGAG	0.622																																					p.F79L	Esophageal Squamous(150;1369 2416 49071 49364)	.											.	SHMT2	91	0			c.C237A						.						42.0	43.0	42.0					12																	57625269		2203	4300	6503	SO:0001583	missense	6472	exon3			GAACTTCTGCAGC	AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.237C>A	12.37:g.57625269C>A	ENSP00000333667:p.Phe79Leu	179.0	0.0		148.0	80.0	NM_005412	B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Missense_Mutation	SNP	ENST00000328923.3	37	CCDS8934.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387402	0.82902	.	.	ENSG00000182199	ENST00000328923;ENST00000557487;ENST00000556689;ENST00000414700;ENST00000557703;ENST00000553529;ENST00000554310;ENST00000557427;ENST00000553474;ENST00000555773;ENST00000554975;ENST00000449049;ENST00000556737	T;T;T;T;T;T;T;T;T;T;T;T;T	0.44881	1.45;0.91;0.91;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	4.49	3.6	0.41247	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.62380	0.2423	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.992;1.0	T	0.65335	-0.6193	10	0.72032	D	0.01	.	9.0184	0.36184	0.0:0.8188:0.0:0.1812	.	79;79	Q8N1A5;P34897	.;GLYM_HUMAN	L	79;79;79;58;58;58;58;58;58;58;58;58;58	ENSP00000333667:F79L;ENSP00000452315:F79L;ENSP00000452035:F79L;ENSP00000406881:F58L;ENSP00000450452:F58L;ENSP00000452161:F58L;ENSP00000450893:F58L;ENSP00000452045:F58L;ENSP00000452419:F58L;ENSP00000451968:F58L;ENSP00000452404:F58L;ENSP00000413770:F58L;ENSP00000451495:F58L	ENSP00000333667:F79L	F	+	3	2	SHMT2	55911536	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.956000	0.29202	1.263000	0.44181	0.561000	0.74099	TTC	.		0.622	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	NM_005412	
SLC14A2	8170	hgsc.bcm.edu;bcgsc.ca	37	18	43204717	43204717	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr18:43204717T>C	ENST00000255226.6	+	2	904	c.88T>C	c.(88-90)Tgg>Cgg	p.W30R	SLC14A2_ENST00000586448.1_Missense_Mutation_p.W30R	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	30					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGCCCGAGCTGGCCCTCGAC	0.572																																					p.W30R		.											.	SLC14A2	93	0			c.T88C						.						80.0	75.0	77.0					18																	43204717		2203	4300	6503	SO:0001583	missense	8170	exon3			CCGAGCTGGCCCT	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.88T>C	18.37:g.43204717T>C	ENSP00000255226:p.Trp30Arg	91.0	0.0		68.0	5.0	NM_001242692	A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	T	10.11	1.260877	0.23051	.	.	ENSG00000132874	ENST00000255226;ENST00000323329	T;T	0.65178	0.45;-0.14	5.31	5.31	0.75309	.	0.263214	0.32655	N	0.005810	T	0.65595	0.2706	L	0.57536	1.79	0.30059	N	0.811036	P;D	0.55385	0.91;0.971	B;P	0.50440	0.424;0.641	T	0.68750	-0.5326	10	0.52906	T	0.07	-0.4283	11.6475	0.51269	0.0:0.0:0.0:1.0	.	30;30	Q15849;E7EPU1	UT2_HUMAN;.	R	30	ENSP00000255226:W30R;ENSP00000320689:W30R	ENSP00000255226:W30R	W	+	1	0	SLC14A2	41458715	0.989000	0.36119	0.813000	0.32504	0.148000	0.21650	2.448000	0.44926	2.008000	0.58898	0.334000	0.21626	TGG	.		0.572	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1		
SLC22A11	55867	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	64323631	64323631	+	Silent	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr11:64323631C>T	ENST00000301891.4	+	1	534	c.160C>T	c.(160-162)Ctg>Ttg	p.L54L	SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377585.3_Silent_p.L54L|SLC22A11_ENST00000377581.3_Silent_p.L54L	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	54					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	GACACACATGCTGGACAATGG	0.622											OREG0004031	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.L54L		.											.	SLC22A11	91	0			c.C160T						.						170.0	148.0	155.0					11																	64323631		2201	4297	6498	SO:0001819	synonymous_variant	55867	exon1			CACATGCTGGACA	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"""Solute carriers"""	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.160C>T	11.37:g.64323631C>T		177.0	0.0	1075	90.0	34.0	NM_018484	A8K426|Q53GR2|Q6ZP72|Q8NBU4	Silent	SNP	ENST00000301891.4	37	CCDS8074.1																																																																																			.		0.622	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484	
SLC22A17	51310	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	23816000	23816000	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr14:23816000G>T	ENST00000206544.8	-	9	1810	c.1474C>A	c.(1474-1476)Ctg>Atg	p.L492M	SLC22A17_ENST00000397260.3_Missense_Mutation_p.L363M|SLC22A17_ENST00000354772.3_Missense_Mutation_p.L474M|SLC22A17_ENST00000397267.1_Missense_Mutation_p.L492M|SLC22A17_ENST00000474057.1_5'UTR	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	492					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TCCGGCAGCAGCATAATGCTG	0.701																																					p.L492M		.											.	SLC22A17	226	0			c.C1474A						.						7.0	9.0	9.0					14																	23816000		2131	4217	6348	SO:0001583	missense	51310	exon9			GCAGCAGCATAAT	AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"""Solute carriers"""	23095	protein-coding gene	gene with protein product	"""neutrophil gelatinase-associated lipocalin receptor"""	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.1474C>A	14.37:g.23816000G>T	ENSP00000206544:p.Leu492Met	38.0	0.0		39.0	13.0	NM_020372	A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Missense_Mutation	SNP	ENST00000206544.8	37	CCDS9593.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239469	0.79800	.	.	ENSG00000092096	ENST00000354772;ENST00000397260;ENST00000206544;ENST00000397267	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87	5.91	5.91	0.95273	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000004	D	0.87124	0.6099	M	0.77406	2.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87358	0.2342	10	0.66056	D	0.02	-11.6045	19.0661	0.93110	0.0:0.0:1.0:0.0	.	474;492	Q8WUG5-2;Q8WUG5	.;S22AH_HUMAN	M	474;363;492;492	ENSP00000346824:L474M;ENSP00000380430:L363M;ENSP00000206544:L492M;ENSP00000380437:L492M	ENSP00000206544:L492M	L	-	1	2	SLC22A17	22885840	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.332000	0.79203	2.804000	0.96469	0.462000	0.41574	CTG	.		0.701	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	NM_020372	
SLC51A	200931	hgsc.bcm.edu;bcgsc.ca	37	3	195955119	195955119	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr3:195955119T>C	ENST00000296327.5	+	5	705	c.496T>C	c.(496-498)Tgc>Cgc	p.C166R		NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	166	Poly-Cys.				bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	ctgctgcccctgctgtccacg	0.677																																					p.C166R		.											.	.	.	0			c.T496C						.						66.0	66.0	66.0					3																	195955119		2203	4300	6503	SO:0001583	missense	200931	exon5			TGCCCCTGCTGTC		CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"""Solute carriers"""	29955	protein-coding gene	gene with protein product	"""organic solute transporter, alpha subunit"""	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.496T>C	3.37:g.195955119T>C	ENSP00000296327:p.Cys166Arg	82.0	0.0		59.0	4.0	NM_152672	Q6ZMC7	Missense_Mutation	SNP	ENST00000296327.5	37	CCDS3314.1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.665807	0.47677	.	.	ENSG00000163959	ENST00000296327	T	0.42131	0.98	5.5	5.5	0.81552	.	0.000000	0.53938	D	0.000046	T	0.67468	0.2896	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72567	-0.4254	10	0.72032	D	0.01	-14.1685	14.9457	0.71029	0.0:0.0:0.0:1.0	.	166	Q86UW1	OSTA_HUMAN	R	166	ENSP00000296327:C166R	ENSP00000296327:C166R	C	+	1	0	AC069257.9	197439516	1.000000	0.71417	1.000000	0.80357	0.103000	0.19146	4.997000	0.63921	2.308000	0.77769	0.533000	0.62120	TGC	.		0.677	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1	NM_152672	
SLC5A5	6528	hgsc.bcm.edu;bcgsc.ca	37	19	17988801	17988801	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr19:17988801T>C	ENST00000222248.3	+	7	1215	c.868T>C	c.(868-870)Ttc>Ctc	p.F290L		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	290					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)			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						GGTCGGCCTGTTCCTGATCGT	0.622																																					p.F290L	Melanoma(65;1008 1708 7910 46650)	.											.	SLC5A5	93	0			c.T868C						.						110.0	78.0	89.0					19																	17988801		2203	4300	6503	SO:0001583	missense	6528	exon7			GGCCTGTTCCTGA		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.868T>C	19.37:g.17988801T>C	ENSP00000222248:p.Phe290Leu	82.0	0.0		75.0	4.0	NM_000453	O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	T	15.56	2.869649	0.51588	.	.	ENSG00000105641	ENST00000222248	D	0.86497	-2.13	4.87	-1.41	0.08941	.	0.401940	0.29218	N	0.012800	T	0.62085	0.2399	N	0.04373	-0.215	0.27072	N	0.963304	B	0.18166	0.026	B	0.21708	0.036	T	0.53301	-0.8458	10	0.09843	T	0.71	.	1.687	0.02844	0.2579:0.0774:0.2656:0.3991	.	290	Q92911	SC5A5_HUMAN	L	290	ENSP00000222248:F290L	ENSP00000222248:F290L	F	+	1	0	SLC5A5	17849801	0.988000	0.35896	0.963000	0.40424	0.928000	0.56348	0.889000	0.28282	-0.595000	0.05828	0.454000	0.30748	TTC	.		0.622	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1		
SLC6A9	6536	hgsc.bcm.edu;bcgsc.ca	37	1	44468248	44468248	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr1:44468248T>C	ENST00000360584.2	-	7	1204	c.1013A>G	c.(1012-1014)gAg>gGg	p.E338G	SLC6A9_ENST00000537678.1_Missense_Mutation_p.E200G|SLC6A9_ENST00000372310.3_Missense_Mutation_p.E265G|SLC6A9_ENST00000357730.2_Missense_Mutation_p.E284G|SLC6A9_ENST00000372307.3_Missense_Mutation_p.E200G|SLC6A9_ENST00000372306.3_Missense_Mutation_p.E265G|SLC6A9_ENST00000475075.2_Missense_Mutation_p.E154G	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	338					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	AAAGGCTCCCTCCAGGGTCAC	0.597																																					p.E338G		.											.	SLC6A9	90	0			c.A1013G						.						115.0	115.0	115.0					1																	44468248		2203	4300	6503	SO:0001583	missense	6536	exon7			GCTCCCTCCAGGG	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.1013A>G	1.37:g.44468248T>C	ENSP00000353791:p.Glu338Gly	140.0	0.0		73.0	4.0	NM_201649	A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	ENST00000360584.2	37	CCDS41317.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.357665	0.82243	.	.	ENSG00000196517	ENST00000372307;ENST00000372306;ENST00000372310;ENST00000475075;ENST00000360584;ENST00000357730;ENST00000537678	T;T;T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85;-0.85;-0.85	4.51	4.51	0.55191	.	0.321665	0.36972	N	0.002311	D	0.86339	0.5909	M	0.88241	2.94	0.48571	D	0.999678	P;D;D;P;P;P	0.52996	0.837;0.957;0.957;0.905;0.947;0.565	P;P;P;P;P;B	0.60473	0.52;0.836;0.875;0.586;0.667;0.324	D	0.89187	0.3548	10	0.72032	D	0.01	.	14.2805	0.66208	0.0:0.0:0.0:1.0	.	269;265;200;265;284;338	B7Z3W8;B7Z8W5;B7Z3A9;P48067-2;P48067-3;P48067	.;.;.;.;.;SC6A9_HUMAN	G	200;265;265;154;338;284;200	ENSP00000361381:E200G;ENSP00000361380:E265G;ENSP00000361384:E265G;ENSP00000434460:E154G;ENSP00000353791:E338G;ENSP00000350362:E284G;ENSP00000442523:E200G	ENSP00000350362:E284G	E	-	2	0	SLC6A9	44240835	1.000000	0.71417	0.986000	0.45419	0.974000	0.67602	5.927000	0.70080	2.006000	0.58801	0.459000	0.35465	GAG	.		0.597	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649	
SLC9A6	10479	hgsc.bcm.edu;bcgsc.ca	37	X	135067790	135067790	+	Silent	SNP	G	G	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chrX:135067790G>A	ENST00000370698.3	+	1	164	c.129G>A	c.(127-129)tcG>tcA	p.S43S	SLC9A6_ENST00000370695.4_Silent_p.S43S|SLC9A6_ENST00000370701.1_5'UTR	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	43					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CAGGGGCTTCGGACGGCGGCG	0.687																																					p.S43S		.											.	SLC9A6	131	0			c.G129A						.						41.0	44.0	43.0					X																	135067790		2201	4297	6498	SO:0001819	synonymous_variant	10479	exon1			GGCTTCGGACGGC	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.129G>A	X.37:g.135067790G>A		63.0	0.0		66.0	4.0	NM_006359	A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Silent	SNP	ENST00000370698.3	37	CCDS14654.1																																																																																			.		0.687	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359	
SMAP2	64744	hgsc.bcm.edu;bcgsc.ca	37	1	40881972	40881972	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr1:40881972T>C	ENST00000539317.1	+	8	759	c.566T>C	c.(565-567)cTt>cCt	p.L189P		NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	269	Interaction with clathrin heavy chains. {ECO:0000250}.				regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			GACTCCATTCTTTCACTGTAT	0.498																																					p.L269P		.											.	SMAP2	68	0			c.T806C						.						127.0	124.0	125.0					1																	40881972		2203	4300	6503	SO:0001583	missense	64744	exon8			CCATTCTTTCACT	AL137764	CCDS451.1, CCDS55592.1, CCDS55593.1, CCDS72763.1	1p35.3-p34.1	2008-09-22	2008-09-05	2008-01-09	ENSG00000084070	ENSG00000084070		"""ADP-ribosylation factor GTPase activating proteins"""	25082	protein-coding gene	gene with protein product			"""stromal membrane-associated protein 1-like"", ""stromal membrane-associated GTPase-activating protein 2"""	SMAP1L		16571680	Standard	NM_001198978		Approved		uc001cfj.3	Q8WU79	OTTHUMG00000007301	ENST00000539317.1:c.566T>C	1.37:g.40881972T>C	ENSP00000442835:p.Leu189Pro	106.0	0.0		65.0	4.0	NM_022733	B2R7T1|B7Z5B5|B7Z8V2|D3DPV2|Q5QPL2|Q96C93|Q9NST2|Q9UJL8	Missense_Mutation	SNP	ENST00000539317.1	37	CCDS55593.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.566921	0.86439	.	.	ENSG00000084070	ENST00000372718;ENST00000372708;ENST00000539317	T;T;T	0.65549	0.58;0.47;-0.16	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000003	T	0.79003	0.4373	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.91635	0.999;0.997;0.995	T	0.81215	-0.1034	10	0.87932	D	0	-18.1823	14.7743	0.69713	0.0:0.0:0.0:1.0	.	189;239;269	B7Z5B5;Q8WU79-2;Q8WU79	.;.;SMAP2_HUMAN	P	269;239;189	ENSP00000361803:L269P;ENSP00000361793:L239P;ENSP00000442835:L189P	ENSP00000361793:L239P	L	+	2	0	SMAP2	40654559	1.000000	0.71417	0.981000	0.43875	0.979000	0.70002	7.274000	0.78538	2.371000	0.80710	0.533000	0.62120	CTT	.		0.498	SMAP2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022733	
SMCHD1	23347	hgsc.bcm.edu;bcgsc.ca	37	18	2694533	2694533	+	Silent	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr18:2694533T>C	ENST00000320876.6	+	8	1220	c.882T>C	c.(880-882)gaT>gaC	p.D294D	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Silent_p.D294D	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	294					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AGCCCTCTGATTCTGTTCACA	0.313																																					p.D294D		.											.	SMCHD1	46	0			c.T882C						.						49.0	42.0	44.0					18																	2694533		1844	4076	5920	SO:0001819	synonymous_variant	23347	exon8			CTCTGATTCTGTT	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.882T>C	18.37:g.2694533T>C		133.0	0.0		89.0	4.0	NM_015295	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Silent	SNP	ENST00000320876.6	37	CCDS45822.1																																																																																			.		0.313	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		
SMG1	23049	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	18846414	18846414	+	Silent	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr16:18846414C>T	ENST00000446231.2	-	49	8542	c.8130G>A	c.(8128-8130)ctG>ctA	p.L2710L	SMG1_ENST00000389467.3_Silent_p.L2710L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2710					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CGTATCGCTGCAGGGTCATTT	0.453																																					p.L2710L		.											.	SMG1	1160	0			c.G8130A						.						139.0	134.0	135.0					16																	18846414		1946	4155	6101	SO:0001819	synonymous_variant	23049	exon49			TCGCTGCAGGGTC	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.8130G>A	16.37:g.18846414C>T		243.0	0.0		203.0	116.0	NM_015092	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	CCDS45430.1																																																																																			.		0.453	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092	
SMG6	23293	hgsc.bcm.edu;bcgsc.ca	37	17	1964865	1964865	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr17:1964865T>C	ENST00000263073.6	-	19	4231	c.4181A>G	c.(4180-4182)aAc>aGc	p.N1394S	SMG6_ENST00000354901.4_Missense_Mutation_p.N486S|SMG6_ENST00000573166.1_5'UTR|SMG6_ENST00000544865.1_Missense_Mutation_p.N1363S|SMG6_ENST00000536871.2_Missense_Mutation_p.N486S	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1394	PINc.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CACACGCAGGTTCCGGTCATC	0.632																																					p.N1394S	Melanoma(59;28 1088 11621 25887 46638 50814)	.											.	SMG6	228	0			c.A4181G						.						93.0	50.0	65.0					17																	1964865		2196	4296	6492	SO:0001583	missense	23293	exon19			CGCAGGTTCCGGT	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.4181A>G	17.37:g.1964865T>C	ENSP00000263073:p.Asn1394Ser	100.0	0.0		79.0	4.0	NM_017575	B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.756121	0.89843	.	.	ENSG00000070366	ENST00000263073;ENST00000544865;ENST00000354901;ENST00000536871	T;T;T	0.28255	2.33;2.32;1.62	4.95	4.95	0.65309	Nucleotide binding protein, PINc (1);	0.000000	0.85682	D	0.000000	T	0.62974	0.2472	M	0.91972	3.26	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	T	0.72896	-0.4153	10	0.87932	D	0	-9.1547	14.4404	0.67311	0.0:0.0:0.0:1.0	.	1394	Q86US8	EST1A_HUMAN	S	1394;1363;305;486	ENSP00000263073:N1394S;ENSP00000443920:N1363S;ENSP00000440283:N486S	ENSP00000263073:N1394S	N	-	2	0	SMG6	1911615	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.078000	0.62432	0.533000	0.62120	AAC	.		0.632	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3		
SMPX	23676	hgsc.bcm.edu;bcgsc.ca	37	X	21761892	21761892	+	Silent	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chrX:21761892T>C	ENST00000379494.3	-	3	341	c.108A>G	c.(106-108)aaA>aaG	p.K36K	SMPX_ENST00000494525.1_5'UTR	NM_014332.2	NP_055147.1	Q9UHP9	SMPX_HUMAN	small muscle protein, X-linked	36					striated muscle contraction (GO:0006941)	costamere (GO:0043034)|M band (GO:0031430)|muscle tendon junction (GO:0005927)|nucleus (GO:0005634)				breast(1)|endometrium(1)	2						GAGTACATTCTTTTCTTCTGG	0.463																																					p.K36K		.											.	SMPX	130	0			c.A108G						.						100.0	93.0	95.0					X																	21761892		2203	4300	6503	SO:0001819	synonymous_variant	23676	exon3			ACATTCTTTTCTT		CCDS14200.1	Xp22.2-p22.1	2014-01-28			ENSG00000091482	ENSG00000091482			11122	protein-coding gene	gene with protein product		300226	"""deafness, X-linked 6, sensorineural"""	DFN6		21893181	Standard	NM_014332		Approved	DFNX4	uc004daa.3	Q9UHP9	OTTHUMG00000021235	ENST00000379494.3:c.108A>G	X.37:g.21761892T>C		60.0	0.0		68.0	4.0	NM_014332	B1AWX2	Silent	SNP	ENST00000379494.3	37	CCDS14200.1																																																																																			.		0.463	SMPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056023.1	NM_014332	
SNCAIP	9627	hgsc.bcm.edu;bcgsc.ca	37	5	121739502	121739502	+	Silent	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr5:121739502A>G	ENST00000261368.8	+	3	334	c.72A>G	c.(70-72)tcA>tcG	p.S24S	SNCAIP_ENST00000542191.1_5'UTR|SNCAIP_ENST00000379536.2_Silent_p.S24S|SNCAIP_ENST00000503116.2_Silent_p.S71S|SNCAIP_ENST00000379533.2_Silent_p.S71S|SNCAIP_ENST00000414317.2_Missense_Mutation_p.H15R|SNCAIP_ENST00000504884.2_Silent_p.S24S|SNCAIP_ENST00000379538.3_Missense_Mutation_p.H9R|SNCAIP_ENST00000261367.7_Silent_p.S71S	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	24					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CAGTCACATCACTCAAGACGA	0.443																																					p.H9R		.											.	SNCAIP	92	0			c.A26G						.						221.0	203.0	209.0					5																	121739502		2203	4300	6503	SO:0001819	synonymous_variant	9627	exon3			CACATCACTCAAG	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.72A>G	5.37:g.121739502A>G		142.0	0.0		95.0	6.0	NM_001242935	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	A	15.15	2.749419	0.49257	.	.	ENSG00000064692	ENST00000379538;ENST00000414317;ENST00000447854	T;T	0.01629	5.05;4.72	5.64	-11.3	0.00108	.	.	.	.	.	T	0.01061	0.0035	.	.	.	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.48210	-0.9055	8	0.48119	T	0.1	-14.8217	1.8704	0.03207	0.1616:0.2743:0.3298:0.2343	.	15;9;9	B7Z995;Q9Y6H5-5;Q9Y6H5-2	.;.;.	R	9;15;15	ENSP00000368854:H9R;ENSP00000394392:H15R	ENSP00000368854:H9R	H	+	2	0	SNCAIP	121767401	0.510000	0.26171	0.513000	0.27749	0.993000	0.82548	-0.524000	0.06222	-1.933000	0.01052	-0.290000	0.09829	CAC	.		0.443	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1		
SORL1	6653	hgsc.bcm.edu;bcgsc.ca	37	11	121478830	121478830	+	Silent	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr11:121478830T>C	ENST00000260197.7	+	38	5313	c.5184T>C	c.(5182-5184)agT>agC	p.S1728S	SORL1_ENST00000527934.1_Silent_p.S343S|SORL1_ENST00000534286.1_Silent_p.S638S|SORL1_ENST00000525532.1_Silent_p.S672S|SORL1_ENST00000532694.1_Silent_p.S574S	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1728	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CGGTGACTAGTCGTGGAATAG	0.363																																					p.S1728S		.											.	SORL1	228	0			c.T5184C						.						107.0	102.0	104.0					11																	121478830		2202	4299	6501	SO:0001819	synonymous_variant	6653	exon38			GACTAGTCGTGGA	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.5184T>C	11.37:g.121478830T>C		75.0	0.0		76.0	4.0	NM_003105	B2RNX7|Q92856	Silent	SNP	ENST00000260197.7	37	CCDS8436.1																																																																																			.		0.363	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105	
SOX13	9580	hgsc.bcm.edu;bcgsc.ca	37	1	204083543	204083543	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr1:204083543A>G	ENST00000367204.1	+	3	423	c.314A>G	c.(313-315)aAc>aGc	p.N105S	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	105					anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CTGGACTTCAACCGAAATTTG	0.537																																					p.N105S		.											.	SOX13	514	0			c.A314G						.						52.0	51.0	52.0					1																	204083543		1949	4153	6102	SO:0001583	missense	9580	exon3			ACTTCAACCGAAA		CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"""SRY (sex determining region Y)-boxes"""	11192	protein-coding gene	gene with protein product	"""islet cell antibody 12"", ""SRY-related HMG-box gene 13"", ""type 1 diabetes autoantigen"", ""SRY-box 13"""	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.314A>G	1.37:g.204083543A>G	ENSP00000356172:p.Asn105Ser	166.0	0.0		92.0	4.0	NM_005686	B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Missense_Mutation	SNP	ENST00000367204.1	37	CCDS44299.1	.	.	.	.	.	.	.	.	.	.	A	5.148	0.212914	0.09757	.	.	ENSG00000143842	ENST00000367204;ENST00000528591	D	0.97505	-4.41	4.65	3.5	0.40072	.	0.221487	0.45867	N	0.000321	D	0.92289	0.7554	L	0.35414	1.06	0.25626	N	0.986358	B;B	0.12630	0.0;0.006	B;B	0.15052	0.001;0.012	T	0.81484	-0.0912	10	0.19590	T	0.45	.	6.9016	0.24285	0.8813:0.0:0.1187:0.0	.	105;87	Q9UN79;Q5SXX2	SOX13_HUMAN;.	S	105	ENSP00000356172:N105S	ENSP00000356172:N105S	N	+	2	0	SOX13	202350166	1.000000	0.71417	0.993000	0.49108	0.945000	0.59286	2.984000	0.49353	0.622000	0.30249	0.460000	0.39030	AAC	.		0.537	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087881.2	NM_005686	
SPARC	6678	hgsc.bcm.edu;bcgsc.ca	37	5	151049257	151049257	+	Missense_Mutation	SNP	T	T	C	rs200223394		TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr5:151049257T>C	ENST00000231061.4	-	6	732	c.419A>G	c.(418-420)aAg>aGg	p.K140R	SPARC_ENST00000537849.1_5'Flank	NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	140	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|inner ear development (GO:0048839)|lung development (GO:0030324)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|regulation of cell morphogenesis (GO:0022604)|response to cadmium ion (GO:0046686)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to L-ascorbic acid (GO:0033591)|response to lead ion (GO:0010288)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nuclear matrix (GO:0016363)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|platelet alpha granule membrane (GO:0031092)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)		CAGGTGGAGCTTGTGGCCCTT	0.557																																					p.K140R		.											.	SPARC	514	0			c.A419G						.	T	ARG/LYS	0,4406		0,0,2203	125.0	110.0	115.0		419	5.7	1.0	5		115	2,8598	2.2+/-6.3	0,2,4298	no	missense	SPARC	NM_003118.2	26	0,2,6501	CC,CT,TT		0.0233,0.0,0.0154	benign	140/304	151049257	2,13004	2203	4300	6503	SO:0001583	missense	6678	exon6			TGGAGCTTGTGGC		CCDS4318.1	5q31-q33	2012-10-02			ENSG00000113140	ENSG00000113140			11219	protein-coding gene	gene with protein product	"""cysteine-rich protein"", ""osteonectin"""	182120		ON		2838412, 3410046	Standard	NM_003118		Approved		uc003lui.4	P09486	OTTHUMG00000130122	ENST00000231061.4:c.419A>G	5.37:g.151049257T>C	ENSP00000231061:p.Lys140Arg	163.0	0.0		123.0	5.0	NM_003118	D3DQH9|Q6IBK4	Missense_Mutation	SNP	ENST00000231061.4	37	CCDS4318.1	.	.	.	.	.	.	.	.	.	.	T	16.10	3.027083	0.54683	0.0	2.33E-4	ENSG00000113140	ENST00000231061;ENST00000538026;ENST00000521569	T;T;T	0.75367	-0.93;-0.93;-0.93	5.7	5.7	0.88788	Proteinase inhibitor I1, Kazal (2);	0.000000	0.85682	D	0.000000	T	0.64080	0.2566	L	0.27975	0.815	0.80722	D	1	B	0.14805	0.011	B	0.21360	0.034	T	0.58595	-0.7609	10	0.25106	T	0.35	-25.5431	15.9765	0.80071	0.0:0.0:0.0:1.0	.	140	P09486	SPRC_HUMAN	R	140;49;49	ENSP00000231061:K140R;ENSP00000440127:K49R;ENSP00000428119:K49R	ENSP00000231061:K140R	K	-	2	0	SPARC	151029450	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	7.516000	0.81772	2.172000	0.68678	0.533000	0.62120	AAG	T|0.999;C|0.001		0.557	SPARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252430.1	NM_003118	
SPEN	23013	hgsc.bcm.edu;bcgsc.ca	37	1	16261624	16261624	+	Silent	SNP	C	C	A	rs151181793		TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr1:16261624C>A	ENST00000375759.3	+	11	9093	c.8889C>A	c.(8887-8889)ccC>ccA	p.P2963P		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2963					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TTGCTGACCCCGTCACCCTTA	0.592																																					p.P2963P		.											.	SPEN	298	0			c.C8889A						.						60.0	64.0	63.0					1																	16261624		2203	4300	6503	SO:0001819	synonymous_variant	23013	exon11			TGACCCCGTCACC		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.8889C>A	1.37:g.16261624C>A		196.0	0.0		80.0	4.0	NM_015001	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	CCDS164.1																																																																																			C|0.998;T|0.002		0.592	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
SPG21	51324	hgsc.bcm.edu;bcgsc.ca	37	15	65261687	65261687	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr15:65261687C>A	ENST00000204566.2	-	7	869	c.574G>T	c.(574-576)Ggt>Tgt	p.G192C	SPG21_ENST00000433215.2_Missense_Mutation_p.G192C|SPG21_ENST00000416889.2_Missense_Mutation_p.G165C|SPG21_ENST00000559199.1_Missense_Mutation_p.G38C	NM_016630.3	NP_057714.1	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	192					antigen receptor-mediated signaling pathway (GO:0050851)|cell death (GO:0008219)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network transport vesicle (GO:0030140)	CD4 receptor binding (GO:0042609)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						TCACTCTGACCCAAACTTTCT	0.333																																					p.G192C		.											.	SPG21	90	0			c.G574T						.						97.0	100.0	99.0					15																	65261687		2202	4299	6501	SO:0001583	missense	51324	exon7			TCTGACCCAAACT	AF208861	CCDS10198.1, CCDS45279.1	15q21-q22	2008-02-05	2007-04-23		ENSG00000090487	ENSG00000090487			20373	protein-coding gene	gene with protein product	"""maspardin"""	608181				11113139, 14564668	Standard	XM_006720564		Approved	ACP33, GL010, BM-019, MAST	uc002aoe.3	Q9NZD8	OTTHUMG00000133098	ENST00000204566.2:c.574G>T	15.37:g.65261687C>A	ENSP00000204566:p.Gly192Cys	88.0	0.0		94.0	4.0	NM_001127889	B4DW44|Q6ZMB6	Missense_Mutation	SNP	ENST00000204566.2	37	CCDS10198.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259264	0.80246	.	.	ENSG00000090487	ENST00000204566;ENST00000416889;ENST00000433215	T;T;T	0.67345	-0.26;-0.26;-0.26	5.96	5.96	0.96718	.	0.098210	0.85682	D	0.000000	T	0.64305	0.2586	N	0.22421	0.69	0.47584	D	0.999461	P;P	0.45396	0.857;0.808	P;P	0.52758	0.584;0.708	T	0.65393	-0.6179	10	0.52906	T	0.07	-12.482	12.307	0.54908	0.0:0.9226:0.0:0.0774	.	165;192	Q9NZD8-2;Q9NZD8	.;SPG21_HUMAN	C	192;165;192	ENSP00000204566:G192C;ENSP00000394846:G165C;ENSP00000404111:G192C	ENSP00000204566:G192C	G	-	1	0	SPG21	63048740	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.483000	0.60264	2.815000	0.96918	0.650000	0.86243	GGT	.		0.333	SPG21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256758.3	NM_016630	
STARD4	134429	hgsc.bcm.edu;bcgsc.ca	37	5	110837775	110837775	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr5:110837775T>C	ENST00000296632.3	-	4	301	c.167A>G	c.(166-168)cAa>cGa	p.Q56R	STARD4_ENST00000509887.1_Intron|STARD4_ENST00000502322.1_Missense_Mutation_p.Q56R|STARD4_ENST00000512160.1_Intron|STARD4_ENST00000511569.1_5'UTR	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	56	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		TATAACACCTTGGGCTTTGTA	0.383																																					p.Q56R		.											.	STARD4	227	0			c.A167G						.						109.0	117.0	114.0					5																	110837775		2202	4300	6502	SO:0001583	missense	134429	exon4			ACACCTTGGGCTT	AF480299	CCDS4104.1	5q22	2011-09-12	2007-08-16		ENSG00000164211	ENSG00000164211		"""StAR-related lipid transfer (START) domain containing"""	18058	protein-coding gene	gene with protein product		607049	"""START domain containing 4, sterol regulated"""			12011452	Standard	NM_139164		Approved		uc003kph.1	Q96DR4	OTTHUMG00000128793	ENST00000296632.3:c.167A>G	5.37:g.110837775T>C	ENSP00000296632:p.Gln56Arg	99.0	0.0		70.0	4.0	NM_139164	Q86TN9	Missense_Mutation	SNP	ENST00000296632.3	37	CCDS4104.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.964345	0.74131	.	.	ENSG00000164211	ENST00000296632;ENST00000505803;ENST00000502322	T;T;T	0.78126	-1.15;-1.15;-1.15	5.94	5.94	0.96194	Lipid-binding START (2);START-like domain (1);	0.081196	0.52532	D	0.000068	D	0.83202	0.5203	M	0.67953	2.075	0.80722	D	1	P;P	0.51449	0.942;0.945	P;P	0.53988	0.739;0.523	T	0.81623	-0.0849	10	0.30854	T	0.27	-6.1773	16.3871	0.83514	0.0:0.0:0.0:1.0	.	56;56	Q86TN9;Q96DR4	.;STAR4_HUMAN	R	56	ENSP00000296632:Q56R;ENSP00000427478:Q56R;ENSP00000427639:Q56R	ENSP00000296632:Q56R	Q	-	2	0	STARD4	110865674	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	6.199000	0.72112	2.276000	0.75962	0.533000	0.62120	CAA	.		0.383	STARD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250720.1	NM_139164	
STK17A	9263	hgsc.bcm.edu;bcgsc.ca	37	7	43663335	43663335	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr7:43663335G>T	ENST00000319357.5	+	6	947	c.768G>T	c.(766-768)atG>atT	p.M256I		NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	256	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein phosphorylation (GO:0006468)|regulation of reactive oxygen species metabolic process (GO:2000377)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						CATATGTCATGCTTACAGGAA	0.289																																					p.M256I		.											.	STK17A	335	0			c.G768T						.						97.0	96.0	96.0					7																	43663335		2201	4297	6498	SO:0001583	missense	9263	exon6			TGTCATGCTTACA	AB011420	CCDS5470.1	7p13	2008-05-15	2007-02-12		ENSG00000164543	ENSG00000164543			11395	protein-coding gene	gene with protein product	"""death-associated protein kinase-related 1"""	604726	"""serine/threonine kinase 17a (apoptosis-inducing)"""			9786912	Standard	NM_004760		Approved	DRAK1	uc003tih.3	Q9UEE5	OTTHUMG00000022825	ENST00000319357.5:c.768G>T	7.37:g.43663335G>T	ENSP00000319192:p.Met256Ile	81.0	0.0		82.0	5.0	NM_004760	A4D1V6|Q8IVC8	Missense_Mutation	SNP	ENST00000319357.5	37	CCDS5470.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863338	0.91511	.	.	ENSG00000164543	ENST00000319357	T	0.41758	0.99	4.98	4.98	0.66077	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000020	T	0.52901	0.1763	N	0.25031	0.7	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.59904	-0.7366	10	0.87932	D	0	.	18.2488	0.89996	0.0:0.0:1.0:0.0	.	256	Q9UEE5	ST17A_HUMAN	I	256	ENSP00000319192:M256I	ENSP00000319192:M256I	M	+	3	0	STK17A	43629860	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.183000	0.94887	2.278000	0.76064	0.563000	0.77884	ATG	.		0.289	STK17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250902.1	NM_004760	
SUPT20H	55578	hgsc.bcm.edu;bcgsc.ca	37	13	37591496	37591496	+	Silent	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr13:37591496T>C	ENST00000350612.6	-	23	2098	c.1878A>G	c.(1876-1878)ccA>ccG	p.P626P	SUPT20H_ENST00000464744.1_Silent_p.P627P|SUPT20H_ENST00000360252.4_Silent_p.P627P|SUPT20H_ENST00000475892.1_Silent_p.P705P|SUPT20H_ENST00000356185.3_Silent_p.P627P	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	626					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										GTGAACCACCTGGAAGCTATT	0.343																																					p.P627P		.											.	.	.	0			c.A1881G						.						80.0	76.0	77.0					13																	37591496		2203	4300	6503	SO:0001819	synonymous_variant	55578	exon23			ACCACCTGGAAGC	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.1878A>G	13.37:g.37591496T>C		207.0	0.0		137.0	6.0	NM_017569	E7ER46|Q71RF3|Q9Y6A6	Silent	SNP	ENST00000350612.6	37	CCDS31959.1																																																																																			.		0.343	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569	
SV2B	9899	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	91769904	91769904	+	Silent	SNP	G	G	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr15:91769904G>A	ENST00000394232.1	+	2	881	c.411G>A	c.(409-411)gaG>gaA	p.E137E	SV2B_ENST00000557291.1_Intron|SV2B_ENST00000545111.2_Intron|SV2B_ENST00000330276.4_Silent_p.E137E	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	137					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CCAGTGCAGAGAAGGACATGT	0.478																																					p.E137E		.											.	SV2B	97	0			c.G411A						.						101.0	77.0	85.0					15																	91769904		2198	4298	6496	SO:0001819	synonymous_variant	9899	exon3			TGCAGAGAAGGAC	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.411G>A	15.37:g.91769904G>A		76.0	0.0		80.0	26.0	NM_014848	B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	ENST00000394232.1	37	CCDS10370.1																																																																																			.		0.478	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848	
SYCE1L	100130958	hgsc.bcm.edu;bcgsc.ca	37	16	77243331	77243331	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr16:77243331C>A	ENST00000378644.4	+	6	377	c.322C>A	c.(322-324)Cag>Aag	p.Q108K	RP11-538I12.2_ENST00000569032.1_RNA	NM_001129979.1	NP_001123451.1	A8MT33	SYC1L_HUMAN	synaptonemal complex central element protein 1-like	108					synaptonemal complex assembly (GO:0007130)	synaptonemal complex (GO:0000795)				breast(1)|prostate(1)	2						gAGGATCCTCCAGATGCACTG	0.567																																					p.Q108K		.											.	.	.	0			c.C322A						.						75.0	83.0	81.0					16																	77243331		692	1591	2283	SO:0001583	missense	100130958	exon6			ATCCTCCAGATGC		CCDS45533.1	16q23.1	2009-10-06			ENSG00000205078	ENSG00000205078			37236	protein-coding gene	gene with protein product	"""meiosis-related protein"""					16328886	Standard	NM_001129979		Approved	MRP2	uc010vnh.1	A8MT33		ENST00000378644.4:c.322C>A	16.37:g.77243331C>A	ENSP00000367911:p.Gln108Lys	89.0	0.0		54.0	4.0	NM_001129979	A6NF23	Missense_Mutation	SNP	ENST00000378644.4	37	CCDS45533.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.763742	0.31228	.	.	ENSG00000205078	ENST00000378644	T	0.34275	1.37	3.64	2.66	0.31614	.	2.034340	0.04277	N	0.343087	T	0.27933	0.0688	L	0.42245	1.32	0.20821	N	0.999842	P	0.40107	0.703	B	0.35470	0.203	T	0.12344	-1.0551	10	0.07325	T	0.83	.	8.6793	0.34198	0.2252:0.7748:0.0:0.0	.	108	A8MT33	SYC1L_HUMAN	K	108	ENSP00000367911:Q108K	ENSP00000367911:Q108K	Q	+	1	0	SYCE1L	75800832	0.972000	0.33761	0.972000	0.41901	0.954000	0.61252	0.948000	0.29096	1.091000	0.41335	0.563000	0.77884	CAG	.		0.567	SYCE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433889.1	NM_001129979	
SYNJ2	8871	hgsc.bcm.edu;bcgsc.ca	37	6	158449995	158449995	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr6:158449995A>G	ENST00000355585.4	+	3	497	c.422A>G	c.(421-423)gAc>gGc	p.D141G	SYNJ2_ENST00000367121.3_Missense_Mutation_p.D141G|SYNJ2_ENST00000367122.2_Missense_Mutation_p.D141G|SYNJ2_ENST00000449859.2_Missense_Mutation_p.D90G	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	141	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TCTCGCTTTGACCTGACTGTC	0.582																																					p.D141G		.											.	SYNJ2	227	0			c.A422G						.						66.0	68.0	68.0					6																	158449995		2203	4300	6503	SO:0001583	missense	8871	exon3			GCTTTGACCTGAC	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.422A>G	6.37:g.158449995A>G	ENSP00000347792:p.Asp141Gly	114.0	0.0		61.0	5.0	NM_003898	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	CCDS5254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.57|16.57	3.160442|3.160442	0.57368|0.57368	.|.	.|.	ENSG00000078269|ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000449320;ENST00000449859|ENST00000367113	T;T;T;T;T|.	0.72167|.	-0.63;-0.63;-0.63;-0.63;-0.63|.	4.62|4.62	4.62|4.62	0.57501|0.57501	Synaptojanin, N-terminal (2);|.	0.000000|.	0.64402|.	D|.	0.000018|.	D|D	0.85579|0.85579	0.5729|0.5729	H|H	0.98027|0.98027	4.13|4.13	0.49915|0.49915	D|D	0.999838|0.999838	D;D;D;D|.	0.58620|.	0.969;0.983;0.983;0.962|.	P;D;P;P|.	0.63113|.	0.676;0.911;0.676;0.547|.	D|D	0.90043|0.90043	0.4143|0.4143	10|5	0.87932|.	D|.	0|.	.|.	14.2246|14.2246	0.65850|0.65850	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	90;141;141;141|.	B4DJU8;E7ER60;O15056;O15056-3|.	.;.;SYNJ2_HUMAN;.|.	G|A	141;141;141;90;90|116	ENSP00000356089:D141G;ENSP00000356088:D141G;ENSP00000347792:D141G;ENSP00000411202:D90G;ENSP00000388371:D90G|.	ENSP00000347792:D141G|.	D|T	+|+	2|1	0|0	SYNJ2|SYNJ2	158369983|158369983	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.017000|0.017000	0.09413|0.09413	8.614000|8.614000	0.90917|0.90917	0.546000|0.546000	0.28920|0.28920	0.655000|0.655000	0.94253|0.94253	GAC|ACC	.		0.582	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2		
TANGO6	79613	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	68953121	68953121	+	Splice_Site	SNP	A	A	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr16:68953121A>T	ENST00000261778.1	+	12	2138	c.2126A>T	c.(2125-2127)cAg>cTg	p.Q709L		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	709						integral component of membrane (GO:0016021)											GGAGCTGTTCAGGTGAGTTGT	0.512																																					p.Q709L		.											.	.	.	0			c.A2126T						.						59.0	58.0	58.0					16																	68953121		2111	4227	6338	SO:0001630	splice_region_variant	79613	exon12			CTGTTCAGGTGAG		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.2127+1A>T	16.37:g.68953121A>T		220.0	0.0		112.0	23.0	NM_024562	Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.152870	0.78001	.	.	ENSG00000103047	ENST00000261778	T	0.63580	-0.05	5.36	5.36	0.76844	Armadillo-type fold (1);	0.225081	0.47455	D	0.000229	T	0.54631	0.1870	M	0.64997	1.995	0.44927	D	0.997947	P	0.44090	0.826	B	0.36845	0.234	T	0.57642	-0.7776	10	0.36615	T	0.2	-16.9474	10.2972	0.43631	0.8528:0.0:0.0:0.1472	.	709	Q9C0B7	TMCO7_HUMAN	L	709	ENSP00000261778:Q709L	ENSP00000261778:Q709L	Q	+	2	0	TMCO7	67510622	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.909000	0.56363	2.028000	0.59812	0.533000	0.62120	CAG	.		0.512	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2	Missense_Mutation
TAP1	6890	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	32820940	32820940	+	Silent	SNP	C	C	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr6:32820940C>A	ENST00000354258.4	-	1	815	c.654G>T	c.(652-654)ggG>ggT	p.G218G	TAP1_ENST00000425148.2_5'Flank|PSMB9_ENST00000374859.2_5'Flank|PSMB9_ENST00000395330.1_Intron|PSMB9_ENST00000453265.2_5'Flank	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	218					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	CCCAGAGGCTCCCGAGTTTGT	0.667																																					p.G218G		.											.	TAP1	91	0			c.G654T						.						20.0	21.0	21.0					6																	32820940		1508	2707	4215	SO:0001819	synonymous_variant	6890	exon1			GAGGCTCCCGAGT		CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.654G>T	6.37:g.32820940C>A		129.0	0.0		103.0	32.0	NM_000593	Q16149|Q96CP4	Silent	SNP	ENST00000354258.4	37	CCDS4758.1																																																																																			.		0.667	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593	
TBC1D23	55773	hgsc.bcm.edu;bcgsc.ca	37	3	100002653	100002653	+	Silent	SNP	C	C	T	rs200870879		TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr3:100002653C>T	ENST00000394144.4	+	4	481	c.474C>T	c.(472-474)ccC>ccT	p.P158P	TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Silent_p.P158P|TBC1D23_ENST00000475134.1_Intron	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	158	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						AGTACATTCCCAGGTAAAATA	0.368																																					p.P158P		.											.	TBC1D23	92	0			c.C474T						.						69.0	67.0	68.0					3																	100002653		2203	4300	6503	SO:0001819	synonymous_variant	55773	exon4			CATTCCCAGGTAA	AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.474C>T	3.37:g.100002653C>T		108.0	0.0		83.0	4.0	NM_001199198	B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Silent	SNP	ENST00000394144.4	37	CCDS56265.1																																																																																			C|0.999;G|0.000		0.368	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309	
TBX22	50945	hgsc.bcm.edu;bcgsc.ca	37	X	79282236	79282236	+	Silent	SNP	C	C	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chrX:79282236C>A	ENST00000373294.5	+	5	695	c.667C>A	c.(667-669)Cga>Aga	p.R223R	TBX22_ENST00000373291.1_Silent_p.R103R|TBX22_ENST00000373296.3_Silent_p.R223R|TBX22_ENST00000442340.1_Silent_p.R103R	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	223					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R223*(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTACAAACCCCGAGTGCACGT	0.453																																					p.R223R		.											.	TBX22	628	1	Substitution - Nonsense(1)	large_intestine(1)	c.C667A	GRCh37	CD013205	TBX22	D		.						158.0	128.0	138.0					X																	79282236		2203	4300	6503	SO:0001819	synonymous_variant	50945	exon5			AAACCCCGAGTGC	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.667C>A	X.37:g.79282236C>A		83.0	0.0		93.0	4.0	NM_016954	Q5JZ06|Q96LC0|Q9HBF1	Silent	SNP	ENST00000373294.5	37	CCDS14445.1																																																																																			.		0.453	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954	
TGFB3	7043	hgsc.bcm.edu;bcgsc.ca	37	14	76437504	76437504	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr14:76437504A>G	ENST00000238682.3	-	3	908	c.611T>C	c.(610-612)gTc>gCc	p.V204A	TGFB3_ENST00000556285.1_Missense_Mutation_p.V204A|RP11-270M14.5_ENST00000553732.1_lincRNA	NM_003239.2	NP_003230.1	P10600	TGFB3_HUMAN	transforming growth factor, beta 3	204					activation of MAPK activity (GO:0000187)|aging (GO:0007568)|blood coagulation (GO:0007596)|cell growth (GO:0016049)|cell-cell junction organization (GO:0045216)|detection of hypoxia (GO:0070483)|digestive tract development (GO:0048565)|embryonic neurocranium morphogenesis (GO:0048702)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|female pregnancy (GO:0007565)|frontal suture morphogenesis (GO:0060364)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|lung alveolus development (GO:0048286)|mammary gland development (GO:0030879)|menstrual cycle phase (GO:0022601)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of macrophage cytokine production (GO:0010936)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|odontogenesis (GO:0042476)|ossification involved in bone remodeling (GO:0043932)|palate development (GO:0060021)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell division (GO:0051781)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to laminar fluid shear stress (GO:0034616)|response to progesterone (GO:0032570)|salivary gland morphogenesis (GO:0007435)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|T-tubule (GO:0030315)	identical protein binding (GO:0042802)|transforming growth factor beta binding (GO:0050431)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		AGTGTCAGTGACATCAAAGGA	0.522																																					p.V204A		.											.	TGFB3	524	0			c.T611C						.						110.0	94.0	99.0					14																	76437504		2203	4300	6503	SO:0001583	missense	7043	exon3			TCAGTGACATCAA		CCDS9846.1	14q24	2014-09-17				ENSG00000119699		"""Endogenous ligands"""	11769	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-3"""	190230	"""arrhythmogenic right ventricular dysplasia 1"""	ARVD1, ARVD		16549496, 15639475	Standard	XM_005268028		Approved		uc001xsc.2	P10600		ENST00000238682.3:c.611T>C	14.37:g.76437504A>G	ENSP00000238682:p.Val204Ala	62.0	0.0		53.0	4.0	NM_003239	Q8WV88	Missense_Mutation	SNP	ENST00000238682.3	37	CCDS9846.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.614681	0.87359	.	.	ENSG00000119699	ENST00000238682;ENST00000556285	T;T	0.74842	-0.88;-0.88	5.55	5.55	0.83447	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84202	0.5420	M	0.86178	2.8	0.80722	D	1	P	0.52463	0.953	P	0.53593	0.73	D	0.87247	0.2270	10	0.87932	D	0	-11.4624	15.6992	0.77528	1.0:0.0:0.0:0.0	.	204	P10600	TGFB3_HUMAN	A	204	ENSP00000238682:V204A;ENSP00000451110:V204A	ENSP00000238682:V204A	V	-	2	0	TGFB3	75507257	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	8.962000	0.93254	2.122000	0.65172	0.459000	0.35465	GTC	.		0.522	TGFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413685.1	NM_003239	
TGM3	7053	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	2290970	2290970	+	Missense_Mutation	SNP	C	C	T	rs139117716	byFrequency	TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr20:2290970C>T	ENST00000381458.5	+	3	391	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	110					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	ACCCATAGGACGGTACACAAT	0.552													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		20392	0.0		0.0	False		,,,				2504	0.0				p.R110W		.											.	TGM3	139	0			c.C328T						.	C	TRP/ARG	4,4402	8.1+/-20.4	0,4,2199	197.0	175.0	183.0		328	1.7	0.0	20	dbSNP_134	183	0,8600		0,0,4300	yes	missense	TGM3	NM_003245.3	101	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign	110/694	2290970	4,13002	2203	4300	6503	SO:0001583	missense	7053	exon3			ATAGGACGGTACA	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.328C>T	20.37:g.2290970C>T	ENSP00000370867:p.Arg110Trp	143.0	0.0		131.0	51.0	NM_003245	A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	C	7.390	0.630671	0.14322	9.08E-4	0.0	ENSG00000125780	ENST00000381458;ENST00000420960	D	0.86230	-2.09	5.34	1.72	0.24424	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	1.329060	0.04642	N	0.405472	D	0.85579	0.5729	M	0.70275	2.135	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.66693	-0.5859	10	0.62326	D	0.03	.	4.5439	0.12071	0.2112:0.5782:0.0:0.2106	.	110	Q08188	TGM3_HUMAN	W	110	ENSP00000370867:R110W	ENSP00000370867:R110W	R	+	1	2	TGM3	2238970	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	0.748000	0.26305	-0.029000	0.13827	0.462000	0.41574	CGG	C|1.000;T|0.000		0.552	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245	
THOC5	8563	hgsc.bcm.edu;bcgsc.ca	37	22	29939435	29939435	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr22:29939435T>C	ENST00000490103.1	-	4	459	c.337A>G	c.(337-339)Aga>Gga	p.R113G	THOC5_ENST00000397872.1_Missense_Mutation_p.R113G|THOC5_ENST00000397873.2_Missense_Mutation_p.R113G|THOC5_ENST00000397871.1_Missense_Mutation_p.R113G	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	113	Interaction with CSF1R. {ECO:0000250}.|Interaction with THOC7.				blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTCTGATCTCTTCCTTTCTTC	0.388																																					p.R113G		.											.	THOC5	585	0			c.A337G						.						149.0	150.0	150.0					22																	29939435		2203	4300	6503	SO:0001583	missense	8563	exon5			GATCTCTTCCTTT	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.337A>G	22.37:g.29939435T>C	ENSP00000420306:p.Arg113Gly	109.0	0.0		182.0	8.0	NM_001002878	O60839|Q9UPZ5	Missense_Mutation	SNP	ENST00000490103.1	37	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	T	18.47	3.630526	0.67015	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873;ENST00000440771;ENST00000455450;ENST00000428374	T;T;T;T;T	0.56103	1.35;1.35;1.35;1.35;0.48	5.62	1.83	0.25207	.	0.000000	0.85682	D	0.000000	T	0.73466	0.3590	M	0.85462	2.755	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72982	0.963;0.979	T	0.79105	-0.1940	10	0.87932	D	0	-36.245	15.33	0.74200	0.0:0.0:0.4697:0.5302	.	113;113	F8WCP5;Q13769	.;THOC5_HUMAN	G	113;113;113;113;113;109;113	ENSP00000420306:R113G;ENSP00000380970:R113G;ENSP00000380969:R113G;ENSP00000380971:R113G;ENSP00000415425:R109G	ENSP00000444493:R113G	R	-	1	2	THOC5	28269435	0.344000	0.24827	1.000000	0.80357	0.981000	0.71138	-0.158000	0.10070	0.366000	0.24427	0.455000	0.32223	AGA	.		0.388	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678	
TIPRL	261726	hgsc.bcm.edu;bcgsc.ca	37	1	168169255	168169255	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr1:168169255G>T	ENST00000367833.2	+	7	935	c.790G>T	c.(790-792)Gac>Tac	p.D264Y		NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN	TOR signaling pathway regulator	264	Interaction with PPP2CA.				DNA damage checkpoint (GO:0000077)|negative regulation of protein phosphatase type 2A activity (GO:0034048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					TAACCCAGCAGACTCACAAAA	0.363																																					p.D264Y		.											.	TIPRL	91	0			c.G790T						.						61.0	60.0	60.0					1																	168169255		2203	4299	6502	SO:0001583	missense	261726	exon7			CCAGCAGACTCAC	AB097034	CCDS1270.1, CCDS30935.1	1q23.2	2014-03-07	2014-03-07		ENSG00000143155	ENSG00000143155			30231	protein-coding gene	gene with protein product		611807	"""TIP41, TOR signaling pathway regulator-like (S. cerevisiae)"""			12761501	Standard	NM_001031800		Approved	MGC3794, dJ69E11.3, TIP41	uc001gfg.3	O75663	OTTHUMG00000034646	ENST00000367833.2:c.790G>T	1.37:g.168169255G>T	ENSP00000356807:p.Asp264Tyr	101.0	0.0		91.0	4.0	NM_152902	B2R8V3|Q5HYB2|Q8IZ86	Missense_Mutation	SNP	ENST00000367833.2	37	CCDS1270.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.527741	0.27299	.	.	ENSG00000143155	ENST00000367833	.	.	.	5.91	5.0	0.66597	.	0.543934	0.21397	N	0.075209	T	0.30262	0.0759	L	0.47716	1.5	0.32833	D	0.504357	B	0.31790	0.34	B	0.31016	0.123	T	0.32745	-0.9895	8	0.56958	D	0.05	-10.2752	11.6011	0.51003	0.1431:0.0:0.8569:0.0	.	264	O75663	TIPRL_HUMAN	Y	264	.	ENSP00000356807:D264Y	D	+	1	0	TIPRL	166435879	0.010000	0.17322	0.999000	0.59377	0.549000	0.35272	0.634000	0.24614	1.504000	0.48704	0.655000	0.94253	GAC	.		0.363	TIPRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083822.1	NM_152902	
TLE4	7091	hgsc.bcm.edu;bcgsc.ca	37	9	82337475	82337475	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr9:82337475T>C	ENST00000376552.2	+	18	3114	c.2096T>C	c.(2095-2097)cTt>cCt	p.L699P	TLE4_ENST00000376544.3_Missense_Mutation_p.L630P|TLE4_ENST00000376520.4_Missense_Mutation_p.L731P|TLE4_ENST00000376534.4_Missense_Mutation_p.L336P|TLE4_ENST00000376537.4_Missense_Mutation_p.L731P|TLE4_ENST00000265284.6_Missense_Mutation_p.L674P	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	699					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CAACTACATCTTCATGAGAGC	0.498																																					p.L699P		.											.	TLE4	524	0			c.T2096C						.						138.0	136.0	137.0					9																	82337475		2031	4221	6252	SO:0001583	missense	7091	exon18			TACATCTTCATGA	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.2096T>C	9.37:g.82337475T>C	ENSP00000365735:p.Leu699Pro	207.0	0.0		125.0	5.0	NM_007005	F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.883456	0.91740	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000376534;ENST00000265284	T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73674	0.3617	L	0.58669	1.825	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	0.987;0.999;0.969;1.0	T	0.74435	-0.3666	10	0.56958	D	0.05	-18.4225	16.8222	0.85835	0.0:0.0:0.0:1.0	.	674;630;731;699	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	P	699;630;731;731;336;674	ENSP00000365735:L699P;ENSP00000365727:L630P;ENSP00000365703:L731P;ENSP00000365720:L731P;ENSP00000365717:L336P;ENSP00000265284:L674P	ENSP00000265284:L674P	L	+	2	0	TLE4	81527295	1.000000	0.71417	0.968000	0.41197	0.994000	0.84299	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	CTT	.		0.498	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237	
TLR5	7100	hgsc.bcm.edu;bcgsc.ca	37	1	223286221	223286221	+	Silent	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr1:223286221G>T	ENST00000540964.1	-	4	614	c.153C>A	c.(151-153)ctC>ctA	p.L51L	TLR5_ENST00000342210.6_Silent_p.L51L			O60602	TLR5_HUMAN	toll-like receptor 5	51					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AGCTCAGCAGGAGCCTCTCAG	0.532																																					p.L51L		.											.	TLR5	525	0			c.C153A						.						65.0	66.0	65.0					1																	223286221		2203	4300	6503	SO:0001819	synonymous_variant	7100	exon6			CAGCAGGAGCCTC		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.153C>A	1.37:g.223286221G>T		122.0	0.0		123.0	5.0	NM_003268	B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Silent	SNP	ENST00000540964.1	37	CCDS31033.1																																																																																			.		0.532	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268	
TMEM135	65084	hgsc.bcm.edu;bcgsc.ca	37	11	87029247	87029247	+	Silent	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr11:87029247T>C	ENST00000305494.5	+	13	1185	c.1146T>C	c.(1144-1146)taT>taC	p.Y382Y	TMEM135_ENST00000340353.7_Silent_p.Y360Y|TMEM135_ENST00000535167.1_Silent_p.Y243Y|TMEM135_ENST00000532959.1_Silent_p.Y253Y	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	382					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTATCATCTATTCCATCTCTA	0.348																																					p.Y382Y		.											.	TMEM135	514	0			c.T1146C						.						176.0	165.0	168.0					11																	87029247		2201	4299	6500	SO:0001819	synonymous_variant	65084	exon13			CATCTATTCCATC	BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.1146T>C	11.37:g.87029247T>C		103.0	0.0		69.0	4.0	NM_022918	Q6AW91|Q8ND01|Q9H6M3	Silent	SNP	ENST00000305494.5	37	CCDS8280.1																																																																																			.		0.348	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393875.1	NM_022918	
TMEM214	54867	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	27258486	27258486	+	Missense_Mutation	SNP	G	G	A	rs375315795		TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr2:27258486G>A	ENST00000238788.9	+	4	589	c.527G>A	c.(526-528)cGg>cAg	p.R176Q	TMEM214_ENST00000404032.3_Intron	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	176					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CTGGTGAGCCGGGAGCTACGT	0.562																																					p.R176Q		.											.	TMEM214	115	0			c.G527A						.	G	,GLN/ARG	1,3907		0,1,1953	87.0	91.0	90.0		,527	1.7	0.7	2		90	0,8296		0,0,4148	no	intron,missense	TMEM214	NM_001083590.1,NM_017727.4	,43	0,1,6101	AA,AG,GG		0.0,0.0256,0.0082	,benign	,176/690	27258486	1,12203	1954	4148	6102	SO:0001583	missense	54867	exon4			TGAGCCGGGAGCT		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.527G>A	2.37:g.27258486G>A	ENSP00000238788:p.Arg176Gln	88.0	0.0		59.0	15.0	NM_017727	A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Missense_Mutation	SNP	ENST00000238788.9	37	CCDS42664.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816211	0.50527	2.56E-4	0.0	ENSG00000119777	ENST00000238788	T	0.43294	0.95	5.67	1.66	0.24008	.	0.405771	0.25372	N	0.031153	T	0.31513	0.0799	L	0.51422	1.61	0.80722	D	1	B	0.13594	0.008	B	0.04013	0.001	T	0.07102	-1.0790	10	0.41790	T	0.15	-5.0376	5.3239	0.15895	0.4238:0.1366:0.4395:0.0	.	176	Q6NUQ4	TM214_HUMAN	Q	176	ENSP00000238788:R176Q	ENSP00000238788:R176Q	R	+	2	0	TMEM214	27111990	1.000000	0.71417	0.698000	0.30274	0.956000	0.61745	1.941000	0.40233	0.011000	0.14865	0.561000	0.74099	CGG	.		0.562	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727	
TNNI3	7137	broad.mit.edu;bcgsc.ca	37	19	55663250	55663250	+	Silent	SNP	G	G	A	rs200085986		TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr19:55663250G>A	ENST00000344887.5	-	8	727	c.585C>T	c.(583-585)atC>atT	p.I195I	TNNT1_ENST00000587758.1_5'Flank|TNNI3_ENST00000588882.1_Silent_p.I170I|TNNI3_ENST00000590463.1_5'Flank|TNNT1_ENST00000356783.5_5'Flank|TNNT1_ENST00000588426.1_5'Flank|TNNT1_ENST00000291901.8_5'Flank|TNNT1_ENST00000536926.1_5'Flank|TNNT1_ENST00000592920.1_5'Flank|TNNT1_ENST00000588981.1_5'Flank	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	195					cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TCAGTGCATCGATGTTCTTGC	0.552																																					.		.											.	TNNI3	92	0			.	GRCh37	CM034577	TNNI3	M		.	G		1,3947		0,1,1973	126.0	129.0	128.0		585	-2.1	1.0	19		128	0,8324		0,0,4162	yes	coding-synonymous	TNNI3	NM_000363.4		0,1,6135	AA,AG,GG		0.0,0.0253,0.0081		195/211	55663250	1,12271	1974	4162	6136	SO:0001819	synonymous_variant	7137	.			TGCATCGATGTTC	M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"""troponin I, cardiac"", ""cardiomyopathy, dilated 2A (autosomal recessive)"""	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.585C>T	19.37:g.55663250G>A		232.0	0.0		227.0	11.0	.		Silent	SNP	ENST00000344887.5	37	CCDS42628.1																																																																																			.		0.552	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452098.1		
TNRC18	84629	hgsc.bcm.edu;bcgsc.ca	37	7	5396822	5396822	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr7:5396822T>C	ENST00000430969.1	-	16	5267	c.4919A>G	c.(4918-4920)gAc>gGc	p.D1640G	TNRC18_ENST00000399537.4_Missense_Mutation_p.D1640G	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1640							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTTCAACTTGTCCTGCTTGGT	0.552																																					p.D1640G		.											.	TNRC18	46	0			c.A4919G						.						45.0	45.0	45.0					7																	5396822		2033	4184	6217	SO:0001583	missense	84629	exon16			AACTTGTCCTGCT	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.4919A>G	7.37:g.5396822T>C	ENSP00000395538:p.Asp1640Gly	212.0	0.0		199.0	9.0	NM_001080495	A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	t	15.07	2.725089	0.48833	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000440081	T;T;T	0.42900	2.67;2.69;0.96	5.25	5.25	0.73442	.	0.000000	0.41938	D	0.000788	T	0.39759	0.1090	M	0.61703	1.905	0.33662	D	0.609793	B;B	0.33940	0.433;0.236	B;B	0.30029	0.11;0.031	T	0.53830	-0.8383	10	0.23891	T	0.37	.	15.1664	0.72828	0.0:0.0:0.0:1.0	.	695;1640	A8MSW5;O15417	.;TNC18_HUMAN	G	1640;1640;695;130	ENSP00000382452:D1640G;ENSP00000395538:D1640G;ENSP00000395990:D130G	ENSP00000382452:D1640G	D	-	2	0	TNRC18	5363348	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.801000	0.62532	1.988000	0.58038	0.459000	0.35465	GAC	.		0.552	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
TNRC6A	27327	hgsc.bcm.edu;bcgsc.ca	37	16	24834848	24834848	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr16:24834848C>A	ENST00000395799.3	+	25	5738	c.5609C>A	c.(5608-5610)cCc>cAc	p.P1870H	TNRC6A_ENST00000432286.2_Missense_Mutation_p.P348H|TNRC6A_ENST00000315183.7_Missense_Mutation_p.P1821H	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1870	Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ACCCCTTCTCCCGGCTGGCAG	0.557																																					p.P1870H		.											.	TNRC6A	92	0			c.C5609A						.						97.0	103.0	101.0					16																	24834848		2197	4300	6497	SO:0001583	missense	27327	exon25			CTTCTCCCGGCTG	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.5609C>A	16.37:g.24834848C>A	ENSP00000379144:p.Pro1870His	104.0	0.0		61.0	4.0	NM_014494	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	c	17.76	3.469269	0.63625	.	.	ENSG00000090905	ENST00000315183;ENST00000395799;ENST00000432286	T;T	0.12879	2.65;2.64	5.64	5.64	0.86602	.	0.059955	0.64402	D	0.000002	T	0.32466	0.0830	L	0.44542	1.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70935	0.971;0.956	T	0.01235	-1.1410	10	0.87932	D	0	-4.6991	19.7099	0.96094	0.0:1.0:0.0:0.0	.	1821;1870	Q8NDV7-6;Q8NDV7	.;TNR6A_HUMAN	H	1821;1870;348	ENSP00000326900:P1821H;ENSP00000379144:P1870H	ENSP00000326900:P1821H	P	+	2	0	TNRC6A	24742349	0.999000	0.42202	0.998000	0.56505	0.993000	0.82548	5.619000	0.67729	2.638000	0.89438	0.651000	0.88453	CCC	.		0.557	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847	
TNXB	7148	hgsc.bcm.edu;bcgsc.ca	37	6	32057134	32057134	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr6:32057134A>G	ENST00000375244.3	-	5	2582	c.2381T>C	c.(2380-2382)tTc>tCc	p.F794S	TNXB_ENST00000375247.2_Missense_Mutation_p.F794S			P22105	TENX_HUMAN	tenascin XB	747	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCGTGCTGTGAATGGGGGGCT	0.612																																					p.F794S		.											.	TNXB	90	0			c.T2381C						.						31.0	35.0	33.0					6																	32057134		1947	4146	6093	SO:0001583	missense	7148	exon5			GCTGTGAATGGGG	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.2381T>C	6.37:g.32057134A>G	ENSP00000364393:p.Phe794Ser	58.0	0.0		65.0	4.0	NM_019105	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37		.	.	.	.	.	.	.	.	.	.	A	18.32	3.597752	0.66332	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.56103	0.48;0.48	5.3	5.3	0.74995	.	.	.	.	.	T	0.36441	0.0967	N	0.05078	-0.115	0.31808	N	0.627477	D	0.76494	0.999	D	0.85130	0.997	T	0.35822	-0.9773	9	0.22706	T	0.39	.	13.2394	0.59987	1.0:0.0:0.0:0.0	.	794	P22105-3	.	S	794	ENSP00000364393:F794S;ENSP00000364396:F794S	ENSP00000364393:F794S	F	-	2	0	TNXB	32165112	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.204000	0.51082	2.231000	0.72958	0.460000	0.39030	TTC	.		0.612	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105	
TOP2A	7153	hgsc.bcm.edu;bcgsc.ca	37	17	38556308	38556308	+	Silent	SNP	G	G	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr17:38556308G>A	ENST00000423485.1	-	24	3170	c.3012C>T	c.(3010-3012)gaC>gaT	p.D1004D		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1004					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	AGCCTACGTGGTCAAAAAGCA	0.313																																					p.D1004D		.											.	TOP2A	655	0			c.C3012T						.						38.0	37.0	37.0					17																	38556308		1804	4075	5879	SO:0001819	synonymous_variant	7153	exon24			TACGTGGTCAAAA		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.3012C>T	17.37:g.38556308G>A		57.0	0.0		57.0	4.0	NM_001067	B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Silent	SNP	ENST00000423485.1	37	CCDS45672.1																																																																																			.		0.313	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1		
TRIM3	10612	hgsc.bcm.edu;bcgsc.ca	37	11	6472512	6472512	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr11:6472512C>T	ENST00000525074.1	-	8	2084	c.1690G>A	c.(1690-1692)Ggc>Agc	p.G564S	TRIM3_ENST00000345851.3_Missense_Mutation_p.G564S|TRIM3_ENST00000537602.1_Missense_Mutation_p.G486S|TRIM3_ENST00000536344.1_Missense_Mutation_p.G445S|TRIM3_ENST00000359518.3_Missense_Mutation_p.G564S	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	564					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGAACTTGCCCTCAGGGGAG	0.557																																					p.G564S	Melanoma(6;5 510 1540 25169 29084)	.											.	TRIM3	714	0			c.G1690A						.						110.0	87.0	95.0					11																	6472512		2201	4296	6497	SO:0001583	missense	10612	exon8			ACTTGCCCTCAGG	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.1690G>A	11.37:g.6472512C>T	ENSP00000433102:p.Gly564Ser	85.0	0.0		53.0	4.0	NM_001248006	B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	37	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110732	0.94292	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344	D;D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93;-2.93	5.25	5.25	0.73442	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.96667	0.8912	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97137	0.9822	10	0.62326	D	0.03	-21.2117	17.4604	0.87619	0.0:1.0:0.0:0.0	.	445;564	F5H2Q8;O75382	.;TRIM3_HUMAN	S	564;564;564;564;553;486;564;445	ENSP00000433102:G564S;ENSP00000340797:G564S;ENSP00000441091:G486S;ENSP00000352508:G564S;ENSP00000445460:G445S	ENSP00000337094:G553S	G	-	1	0	TRIM3	6429088	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.446000	0.82766	0.563000	0.77884	GGC	.		0.557	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458	
TRIM46	80128	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	155154372	155154372	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr1:155154372C>T	ENST00000334634.4	+	9	1633	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W	TRIM46_ENST00000368382.1_Missense_Mutation_p.R522W|TRIM46_ENST00000543729.1_3'UTR|TRIM46_ENST00000368383.3_Missense_Mutation_p.R545W|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000545012.1_Missense_Mutation_p.R419W|TRIM46_ENST00000392451.2_3'UTR	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	545	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AAGCCGAGAGCGGCTGGCTAT	0.622																																					p.R545W		.											.	TRIM46	228	0			c.C1633T						.						46.0	48.0	47.0					1																	155154372		2181	4268	6449	SO:0001583	missense	80128	exon9			CGAGAGCGGCTGG		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.1633C>T	1.37:g.155154372C>T	ENSP00000334657:p.Arg545Trp	162.0	1.0		127.0	20.0	NM_025058	A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721405	0.68959	.	.	ENSG00000163462	ENST00000430513;ENST00000545012;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T	0.61274	0.12;2.53;0.12;0.12	4.06	3.12	0.35913	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.64402	D	0.000001	T	0.57917	0.2086	L	0.49126	1.545	0.40956	D	0.984581	D;D	0.89917	1.0;1.0	D;D	0.76071	0.972;0.987	T	0.60047	-0.7339	10	0.46703	T	0.11	.	11.0129	0.47673	0.1878:0.8122:0.0:0.0	.	545;545	Q5VT61;Q7Z4K8	.;TRI46_HUMAN	W	503;419;545;522;545	ENSP00000440254:R419W;ENSP00000357367:R545W;ENSP00000357366:R522W;ENSP00000334657:R545W	ENSP00000334657:R545W	R	+	1	2	TRIM46	153420996	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.571000	0.45990	1.041000	0.40125	0.561000	0.74099	CGG	.		0.622	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058	
TSG101	7251	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	18502150	18502150	+	Silent	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr11:18502150C>T	ENST00000251968.3	-	10	1531	c.1116G>A	c.(1114-1116)caG>caA	p.Q372Q	TSG101_ENST00000357193.3_Silent_p.Q267Q|TSG101_ENST00000536719.1_Intron	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	372	SB. {ECO:0000255|PROSITE- ProRule:PRU00644}.				cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						GTGCCCTCAGCTGGAACTGTT	0.443																																					p.Q372Q	GBM(99;1348 1396 8611 26475 50572)	.											.	TSG101	90	0			c.G1116A						.						91.0	86.0	88.0					11																	18502150		2199	4293	6492	SO:0001819	synonymous_variant	7251	exon10			CCTCAGCTGGAAC	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"""tumor susceptibility gene 10"", ""tumor susceptibility gene 101"""	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.1116G>A	11.37:g.18502150C>T		215.0	0.0		127.0	50.0	NM_006292	Q9BUM5	Silent	SNP	ENST00000251968.3	37	CCDS7842.1																																																																																			.		0.443	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292	
TRIM51	84767	hgsc.bcm.edu;bcgsc.ca	37	11	55653258	55653258	+	Silent	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr11:55653258T>C	ENST00000449290.2	+	2	446	c.354T>C	c.(352-354)tcT>tcC	p.S118S	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	118						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										GCTCCAACTCTCAGGAGCACC	0.498																																					p.S118S		.											.	.	.	0			c.T354C						.						18.0	17.0	17.0					11																	55653258		692	1591	2283	SO:0001819	synonymous_variant	84767	exon2			CAACTCTCAGGAG	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.354T>C	11.37:g.55653258T>C		158.0	0.0		96.0	5.0	NM_032681	A6NMG2	Silent	SNP	ENST00000449290.2	37																																																																																				.		0.498	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681	
TTF2	8458	hgsc.bcm.edu;bcgsc.ca	37	1	117641477	117641477	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr1:117641477G>T	ENST00000369466.4	+	22	3336	c.3292G>T	c.(3292-3294)Gct>Tct	p.A1098S	TTF2_ENST00000480701.1_3'UTR	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	1098	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TGAAGATCAAGCTTGTGACCG	0.453																																					p.A1098S		.											.	TTF2	91	0			c.G3292T						.						148.0	136.0	140.0					1																	117641477		2203	4300	6503	SO:0001583	missense	8458	exon22			GATCAAGCTTGTG	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.3292G>T	1.37:g.117641477G>T	ENSP00000358478:p.Ala1098Ser	124.0	0.0		81.0	4.0	NM_003594	A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	37	CCDS892.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.034997	0.93575	.	.	ENSG00000116830	ENST00000369466;ENST00000427271	T;T	0.74209	-0.82;-0.82	5.22	5.22	0.72569	Helicase, C-terminal (3);	0.000000	0.37809	N	0.001922	D	0.85944	0.5815	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85642	0.1277	10	0.38643	T	0.18	-15.5364	16.6163	0.84917	0.0:0.0:1.0:0.0	.	1098	Q9UNY4	TTF2_HUMAN	S	1098;79	ENSP00000358478:A1098S;ENSP00000408111:A79S	ENSP00000358478:A1098S	A	+	1	0	TTF2	117443000	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.301000	0.96167	2.594000	0.87642	0.462000	0.41574	GCT	.		0.453	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3		
TTN	7273	hgsc.bcm.edu;bcgsc.ca	37	2	179413062	179413062	+	Silent	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr2:179413062A>G	ENST00000591111.1	-	289	88592	c.88368T>C	c.(88366-88368)ggT>ggC	p.G29456G	TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.G22157G|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.G22224G|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.G22032G|TTN_ENST00000589042.1_Silent_p.G31097G|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.G28529G|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29456	Fibronectin type-III 114. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTCACCAACACCATACTCAT	0.463																																					p.G31097G		.											.	TTN	636	0			c.T93291C						.						211.0	211.0	211.0					2																	179413062		2059	4199	6258	SO:0001819	synonymous_variant	7273	exon339			ACCAACACCATAC	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.88368T>C	2.37:g.179413062A>G		86.0	0.0		56.0	4.0	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																				.		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
UBAP2	55833	hgsc.bcm.edu;bcgsc.ca	37	9	33996317	33996317	+	Silent	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr9:33996317T>C	ENST00000379238.1	-	4	309	c.192A>G	c.(190-192)acA>acG	p.T64T	UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000418786.2_Silent_p.T64T|UBAP2_ENST00000449054.1_Silent_p.T64T|UBAP2_ENST00000360802.1_Silent_p.T64T|UBAP2_ENST00000379239.4_5'UTR|UBAP2_ENST00000480885.1_5'UTR					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GATTTTTCCCTGTCACTTCCA	0.353																																					p.T64T		.											.	UBAP2	94	0			c.A192G						.						178.0	165.0	170.0					9																	33996317		2203	4300	6503	SO:0001819	synonymous_variant	55833	exon4			TTTCCCTGTCACT	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.192A>G	9.37:g.33996317T>C		168.0	0.0		119.0	5.0	NM_018449		Silent	SNP	ENST00000379238.1	37	CCDS6547.1																																																																																			.		0.353	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449	
UCHL3	7347	hgsc.bcm.edu;bcgsc.ca	37	13	76135000	76135000	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr13:76135000T>C	ENST00000377595.3	+	3	196	c.166T>C	c.(166-168)Ttt>Ctt	p.F56L	RP11-29G8.3_ENST00000563635.1_RNA	NM_001270952.1|NM_006002.4	NP_001257881.1|NP_005993.1	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)	56					protein catabolic process (GO:0030163)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		CTTACTTCTCTTTCCTATTAC	0.348																																					p.F56L		.											.	UCHL3	522	0			c.T166C						.						102.0	92.0	95.0					13																	76135000		2203	4300	6503	SO:0001583	missense	7347	exon3			CTTCTCTTTCCTA	M30496	CCDS9453.1, CCDS73586.1	13q21.33	2008-02-05			ENSG00000118939	ENSG00000118939	3.2.1.15		12515	protein-coding gene	gene with protein product		603090				2530630	Standard	NM_001270952		Approved		uc001vjq.4	P15374	OTTHUMG00000017090	ENST00000377595.3:c.166T>C	13.37:g.76135000T>C	ENSP00000366819:p.Phe56Leu	135.0	0.0		105.0	5.0	NM_006002	B2R970|Q5TBK8|Q6IBE9	Missense_Mutation	SNP	ENST00000377595.3	37	CCDS9453.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.909940	0.92107	.	.	ENSG00000118939	ENST00000377595;ENST00000377589	T	0.69175	-0.38	5.81	5.81	0.92471	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (4);	0.000000	0.85682	D	0.000000	D	0.85630	0.5741	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88762	0.3258	10	0.72032	D	0.01	-11.1154	16.1773	0.81862	0.0:0.0:0.0:1.0	.	56	P15374	UCHL3_HUMAN	L	56;13	ENSP00000366819:F56L	ENSP00000366813:F13L	F	+	1	0	UCHL3	75033001	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.698000	0.84413	2.217000	0.71921	0.482000	0.46254	TTT	.		0.348	UCHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045292.2	NM_006002	
UGDH	7358	hgsc.bcm.edu;bcgsc.ca	37	4	39511398	39511398	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr4:39511398A>G	ENST00000316423.6	-	6	1135	c.793T>C	c.(793-795)Ttt>Ctt	p.F265L	UGDH_ENST00000507089.1_Missense_Mutation_p.F168L|UGDH_ENST00000501493.2_Missense_Mutation_p.F198L|UGDH_ENST00000506179.1_Missense_Mutation_p.F265L|UGDH_ENST00000515398.1_5'Flank	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	265	Substrate binding.				cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						GCTTTTAGAAACTTGTTTCCA	0.388																																					p.F265L		.											.	UGDH	156	0			c.T793C						.						132.0	131.0	132.0					4																	39511398		2203	4300	6503	SO:0001583	missense	7358	exon6			TTAGAAACTTGTT	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"""UDP-glucose dehydrogenase"""			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.793T>C	4.37:g.39511398A>G	ENSP00000319501:p.Phe265Leu	90.0	0.0		77.0	4.0	NM_003359	B3KUU2|B4DN25|O60589	Missense_Mutation	SNP	ENST00000316423.6	37	CCDS3455.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.027330	0.93518	.	.	ENSG00000109814	ENST00000316423;ENST00000501493;ENST00000506179;ENST00000507089	D;T;D;D	0.84873	-1.91;-1.29;-1.91;-1.89	5.51	5.51	0.81932	UDP-glucose/GDP-mannose dehydrogenase, dimerisation (1);NAD(P)-binding domain (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	D	0.95642	0.8583	H	0.99011	4.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.951	D	0.97443	1.0023	10	0.87932	D	0	-9.485	15.1102	0.72349	1.0:0.0:0.0:0.0	.	198;265	B3KUU2;O60701	.;UGDH_HUMAN	L	265;198;265;168	ENSP00000319501:F265L;ENSP00000422909:F198L;ENSP00000421757:F265L;ENSP00000426560:F168L	ENSP00000319501:F265L	F	-	1	0	UGDH	39187793	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.569000	0.90744	2.213000	0.71641	0.528000	0.53228	TTT	.		0.388	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	NM_003359	
UNC13C	440279	hgsc.bcm.edu;bcgsc.ca	37	15	54305696	54305696	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr15:54305696A>G	ENST00000260323.11	+	1	596	c.596A>G	c.(595-597)gAg>gGg	p.E199G	UNC13C_ENST00000537900.1_Missense_Mutation_p.E199G|UNC13C_ENST00000545554.1_Missense_Mutation_p.E199G	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	199					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCAGACTCAGAGTTAAGCACC	0.453																																					p.E199G		.											.	UNC13C	51	0			c.A596G						.						96.0	95.0	95.0					15																	54305696		1854	4084	5938	SO:0001583	missense	440279	exon1			ACTCAGAGTTAAG	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.596A>G	15.37:g.54305696A>G	ENSP00000260323:p.Glu199Gly	141.0	0.0		90.0	4.0	NM_001080534	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	A	16.59	3.164540	0.57476	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.85258	-1.95;-1.96;-1.95	4.98	4.98	0.66077	.	.	.	.	.	D	0.87237	0.6127	L	0.32530	0.975	0.54753	D	0.999983	D	0.76494	0.999	D	0.80764	0.994	D	0.85496	0.1188	9	0.28530	T	0.3	.	13.8729	0.63631	1.0:0.0:0.0:0.0	.	199	Q8NB66	UN13C_HUMAN	G	199	ENSP00000260323:E199G;ENSP00000438156:E199G;ENSP00000442569:E199G	ENSP00000260323:E199G	E	+	2	0	UNC13C	52092988	1.000000	0.71417	0.998000	0.56505	0.592000	0.36648	9.261000	0.95576	1.854000	0.53819	0.533000	0.62120	GAG	.		0.453	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
UPB1	51733	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	22	24896100	24896100	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr22:24896100T>C	ENST00000326010.5	+	2	474	c.130T>C	c.(130-132)Ttc>Ctc	p.F44L	UPB1_ENST00000413389.2_Intron|UPB1_ENST00000382760.2_Missense_Mutation_p.F44L	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	44					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	beta-ureidopropionase activity (GO:0003837)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					CAGGGAAGCTTTCGAAGCTGC	0.522																																					p.F44L		.											.	UPB1	92	0			c.T130C						.						89.0	87.0	87.0					22																	24896100		2203	4300	6503	SO:0001583	missense	51733	exon2			GAAGCTTTCGAAG	AB013885	CCDS13827.1	22q11.2	2008-04-11			ENSG00000100024	ENSG00000100024			16297	protein-coding gene	gene with protein product		606673				10542323	Standard	XR_244378		Approved	BUP1	uc003aaf.3	Q9UBR1	OTTHUMG00000150749	ENST00000326010.5:c.130T>C	22.37:g.24896100T>C	ENSP00000324343:p.Phe44Leu	32.0	0.0		36.0	4.0	NM_016327	A3KMF8|Q9UIR3	Missense_Mutation	SNP	ENST00000326010.5	37	CCDS13827.1	.	.	.	.	.	.	.	.	.	.	T	4.862	0.160319	0.09287	.	.	ENSG00000100024	ENST00000326010;ENST00000382760;ENST00000426507	T;T	0.74842	-0.88;-0.88	4.73	1.27	0.21489	.	0.877859	0.10274	N	0.694402	T	0.43100	0.1232	N	0.02158	-0.66	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29305	-1.0016	10	0.11182	T	0.66	-0.4431	7.0302	0.24962	0.0:0.3147:0.0:0.6853	.	44	Q9UBR1	BUP1_HUMAN	L	44	ENSP00000324343:F44L;ENSP00000372208:F44L	ENSP00000324343:F44L	F	+	1	0	UPB1	23226100	0.000000	0.05858	0.015000	0.15790	0.043000	0.13939	-0.175000	0.09825	0.264000	0.21851	0.459000	0.35465	TTC	.		0.522	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319869.1		
USH2A	7399	hgsc.bcm.edu;bcgsc.ca	37	1	215963585	215963585	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr1:215963585T>C	ENST00000307340.3	-	51	10384	c.9998A>G	c.(9997-9999)gAt>gGt	p.D3333G	USH2A_ENST00000366943.2_Missense_Mutation_p.D3333G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3333					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCATATGGTATCTGACATATT	0.378										HNSCC(13;0.011)																											p.D3333G		.											.	USH2A	115	0			c.A9998G						.						122.0	114.0	117.0					1																	215963585		2203	4300	6503	SO:0001583	missense	7399	exon51			ATGGTATCTGACA	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9998A>G	1.37:g.215963585T>C	ENSP00000305941:p.Asp3333Gly	156.0	0.0		122.0	5.0	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	12.64	1.999505	0.35320	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.13420	2.6;2.59	5.91	5.91	0.95273	Fibronectin, type III (2);	0.143817	0.31370	N	0.007773	T	0.12305	0.0299	L	0.53249	1.67	0.30027	N	0.813858	P	0.43094	0.799	B	0.33339	0.162	T	0.17137	-1.0379	10	0.33141	T	0.24	.	11.387	0.49791	0.0:0.0697:0.0:0.9303	.	3333	O75445	USH2A_HUMAN	G	3333	ENSP00000305941:D3333G;ENSP00000355910:D3333G	ENSP00000305941:D3333G	D	-	2	0	USH2A	214030208	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.843000	0.48238	2.254000	0.74563	0.533000	0.62120	GAT	.		0.378	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USP15	9958	hgsc.bcm.edu;bcgsc.ca	37	12	62783254	62783254	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr12:62783254G>T	ENST00000280377.5	+	12	1575	c.1517G>T	c.(1516-1518)tGt>tTt	p.C506F	USP15_ENST00000393654.3_Missense_Mutation_p.C481F|USP15_ENST00000353364.3_Missense_Mutation_p.C477F	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	506	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TTAGATCTTTGTACAGCATTG	0.299																																					p.C506F	Melanoma(181;615 2041 39364 49691 50001)	.											.	USP15	1084	0			c.G1517T						.						106.0	110.0	109.0					12																	62783254		2203	4300	6503	SO:0001583	missense	9958	exon12			ATCTTTGTACAGC	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1517G>T	12.37:g.62783254G>T	ENSP00000280377:p.Cys506Phe	149.0	0.0		89.0	5.0	NM_001252078	Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293338	0.80914	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.19532	2.16;2.14;2.15	5.59	5.59	0.84812	RNA 3&apos (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);-terminal phosphate cyclase/enolpyruvate transferase, alpha/beta (1);	0.105195	0.64402	D	0.000003	T	0.44393	0.1291	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.07947	-1.0746	9	.	.	.	-12.2114	19.5944	0.95530	0.0:0.0:1.0:0.0	.	506;477	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	F	477;506;481	ENSP00000258123:C477F;ENSP00000280377:C506F;ENSP00000377264:C481F	.	C	+	2	0	USP15	61069521	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	6.524000	0.73791	2.642000	0.89623	0.561000	0.74099	TGT	.		0.299	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313	
USP24	23358	hgsc.bcm.edu;bcgsc.ca	37	1	55537593	55537593	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr1:55537593G>T	ENST00000294383.6	-	67	7693	c.7694C>A	c.(7693-7695)aCg>aAg	p.T2565K	USP24_ENST00000484447.1_5'UTR|USP24_ENST00000407756.1_Missense_Mutation_p.T2405K	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2565					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ATACGCTAACGTGTCCTGCAG	0.493											OREG0013507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T2565K		.											.	USP24	521	0			c.C7694A						.						67.0	64.0	65.0					1																	55537593		2062	4209	6271	SO:0001583	missense	23358	exon67			GCTAACGTGTCCT	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.7694C>A	1.37:g.55537593G>T	ENSP00000294383:p.Thr2565Lys	137.0	0.0	1008	66.0	4.0	NM_015306	Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633083	0.87660	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.04406	3.63;3.67	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000001	T	0.19725	0.0474	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00473	-1.1718	10	0.62326	D	0.03	.	17.5474	0.87866	0.0:0.0:1.0:0.0	.	2405	B7WPF4	.	K	2565;2405	ENSP00000294383:T2565K;ENSP00000385700:T2405K	ENSP00000294383:T2565K	T	-	2	0	USP24	55310181	1.000000	0.71417	0.991000	0.47740	0.817000	0.46193	9.024000	0.93689	2.374000	0.81015	0.655000	0.94253	ACG	.		0.493	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2		
UVRAG	7405	hgsc.bcm.edu;bcgsc.ca	37	11	75851784	75851784	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr11:75851784C>A	ENST00000356136.3	+	15	1668	c.1427C>A	c.(1426-1428)cCt>cAt	p.P476H	UVRAG_ENST00000539288.1_Missense_Mutation_p.P104H|UVRAG_ENST00000532130.1_Missense_Mutation_p.P104H|UVRAG_ENST00000531818.1_Missense_Mutation_p.P104H|UVRAG_ENST00000528420.1_Missense_Mutation_p.P375H|UVRAG_ENST00000538870.1_Missense_Mutation_p.P32H|UVRAG_ENST00000533454.1_Missense_Mutation_p.P104H	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	476					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						AGTGCAATCCCTGTTCCTAAG	0.478																																					p.P476H		.											.	UVRAG	229	0			c.C1427A						.						67.0	70.0	69.0					11																	75851784		2200	4293	6493	SO:0001583	missense	7405	exon15			CAATCCCTGTTCC	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.1427C>A	11.37:g.75851784C>A	ENSP00000348455:p.Pro476His	119.0	0.0		74.0	4.0	NM_003369	B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	37	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440907	0.83993	.	.	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000533454;ENST00000531818;ENST00000532130;ENST00000539288;ENST00000538870	T	0.52526	0.66	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.60599	0.2281	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.95	T	0.61855	-0.6977	10	0.66056	D	0.02	-13.7312	18.8301	0.92135	0.0:1.0:0.0:0.0	.	32;476	B7Z6A0;Q9P2Y5	.;UVRAG_HUMAN	H	476;375;104;104;104;104;32	ENSP00000348455:P476H	ENSP00000348455:P476H	P	+	2	0	UVRAG	75529432	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.206000	0.77891	2.764000	0.94973	0.655000	0.94253	CCT	.		0.478	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369	
VASH1	22846	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	77237533	77237533	+	Splice_Site	SNP	G	G	A	rs202147705		TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr14:77237533G>A	ENST00000167106.4	+	3	1032	c.399G>A	c.(397-399)caG>caA	p.Q133Q	VASH1_ENST00000554237.1_Splice_Site_p.Q133Q|VASH1_ENST00000556038.1_3'UTR	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	133					angiogenesis (GO:0001525)|cell cycle arrest (GO:0007050)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of lymphangiogenesis (GO:1901491)|regulation of cellular senescence (GO:2000772)|response to wounding (GO:0009611)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)		p.Q133H(2)		breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		GTGCCCACAGGTACAATCACA	0.552																																					p.Q133Q		.											.	VASH1	90	2	Substitution - Missense(2)	breast(2)	c.G399A						.						119.0	107.0	111.0					14																	77237533		2203	4300	6503	SO:0001630	splice_region_variant	22846	exon3			CCACAGGTACAAT	AB028959	CCDS9851.1	14q24.3	2006-09-25	2005-08-16	2005-08-16		ENSG00000071246			19964	protein-coding gene	gene with protein product		609011	"""KIAA1036"""	KIAA1036			Standard	NM_014909		Approved		uc001xst.2	Q7L8A9		ENST00000167106.4:c.399-1G>A	14.37:g.77237533G>A		452.0	0.0		357.0	98.0	NM_014909	Q96H02|Q9UBF4|Q9Y629	Silent	SNP	ENST00000167106.4	37	CCDS9851.1																																																																																			.		0.552	VASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413706.1	NM_014909	Silent
VCL	7414	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	75854142	75854142	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr10:75854142C>T	ENST00000211998.4	+	11	1560	c.1466C>T	c.(1465-1467)gCa>gTa	p.A489V	VCL_ENST00000417648.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.A489V|VCL_ENST00000478896.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	489	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CCGGCCAAAGCAGCTGTACAC	0.577																																					p.A489V		.											.	VCL	93	0			c.C1466T						.						65.0	54.0	58.0					10																	75854142		2203	4300	6503	SO:0001583	missense	7414	exon11			CCAAAGCAGCTGT	M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.1466C>T	10.37:g.75854142C>T	ENSP00000211998:p.Ala489Val	258.0	0.0		239.0	11.0	NM_003373	Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	37	CCDS7341.1	.	.	.	.	.	.	.	.	.	.	C	32	5.111533	0.94339	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T	0.39229	1.09;1.09;1.09	5.47	5.47	0.80525	.	0.056220	0.64402	D	0.000001	T	0.35799	0.0944	L	0.47716	1.5	0.80722	D	1	P;B;B	0.42993	0.797;0.097;0.134	B;B;B	0.34038	0.101;0.042;0.174	T	0.15321	-1.0441	10	0.24483	T	0.36	.	19.378	0.94519	0.0:1.0:0.0:0.0	.	416;489;489	F5H7T3;P18206-2;P18206	.;.;VINC_HUMAN	V	489;489;396;416;161	ENSP00000361841:A489V;ENSP00000211998:A489V;ENSP00000415489:A161V	ENSP00000211998:A489V	A	+	2	0	VCL	75524148	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.441000	0.80485	2.583000	0.87209	0.585000	0.79938	GCA	.		0.577	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000	
VPS36	51028	hgsc.bcm.edu;bcgsc.ca	37	13	53008984	53008984	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr13:53008984T>C	ENST00000378060.4	-	5	412	c.385A>G	c.(385-387)Aga>Gga	p.R129G	VPS36_ENST00000480923.1_5'UTR	NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	129	GLUE C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00828}.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		TCCCATCTTCTTTGTGTCATT	0.338																																					p.R129G		.											.	VPS36	91	0			c.A385G						.						175.0	186.0	182.0					13																	53008984		2203	4300	6503	SO:0001583	missense	51028	exon5			ATCTTCTTTGTGT	AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"""chromosome 13 open reading frame 9"", ""vacuolar protein sorting 36 homolog (yeast)"""	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.385A>G	13.37:g.53008984T>C	ENSP00000367299:p.Arg129Gly	134.0	0.0		98.0	4.0	NM_016075	A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	Missense_Mutation	SNP	ENST00000378060.4	37	CCDS9434.1	.	.	.	.	.	.	.	.	.	.	.	16.66	3.186142	0.57909	.	.	ENSG00000136100	ENST00000378060	.	.	.	5.76	4.57	0.56435	.	0.134024	0.64402	D	0.000002	T	0.60431	0.2268	M	0.77616	2.38	0.54753	D	0.99998	B	0.31655	0.334	B	0.20577	0.03	T	0.62215	-0.6901	9	0.66056	D	0.02	-21.5871	12.2152	0.54402	0.0:0.0:0.2677:0.7323	.	129	Q86VN1	VPS36_HUMAN	G	129	.	ENSP00000367299:R129G	R	-	1	2	VPS36	51906985	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.214000	0.51161	0.988000	0.38734	0.460000	0.39030	AGA	.		0.338	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045059.3		
WDFY4	57705	hgsc.bcm.edu;bcgsc.ca	37	10	49939422	49939422	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr10:49939422T>C	ENST00000325239.5	+	8	1424	c.1397T>C	c.(1396-1398)aTc>aCc	p.I466T	WDFY4_ENST00000413659.2_Missense_Mutation_p.I466T|WDFY4_ENST00000360890.2_Missense_Mutation_p.I466T	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	466						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						CCTCATGAGATCCTGCGAAAG	0.592																																					p.I466T		.											.	WDFY4	22	0			c.T1397C						.						71.0	68.0	69.0					10																	49939422		692	1591	2283	SO:0001583	missense	57705	exon9			ATGAGATCCTGCG	AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.1397T>C	10.37:g.49939422T>C	ENSP00000320563:p.Ile466Thr	68.0	0.0		69.0	5.0	NM_020945	B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Missense_Mutation	SNP	ENST00000325239.5	37	CCDS44385.1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.472782	0.43942	.	.	ENSG00000128815	ENST00000360890;ENST00000454161;ENST00000426033;ENST00000325239;ENST00000413659	T;T;T	0.41400	1.0;3.27;3.27	5.58	5.58	0.84498	Armadillo-like helical (1);	.	.	.	.	T	0.39835	0.1093	L	0.46157	1.445	0.23765	N	0.996902	B;B	0.20988	0.016;0.05	B;B	0.20955	0.009;0.032	T	0.23868	-1.0176	9	0.35671	T	0.21	.	14.9432	0.71009	0.0:0.0:0.0:1.0	.	466;466	Q6ZS81;Q6ZS81-2	WDFY4_HUMAN;.	T	466;475;466;466;466	ENSP00000354141:I466T;ENSP00000320563:I466T;ENSP00000403789:I466T	ENSP00000320563:I466T	I	+	2	0	WDFY4	49609428	0.999000	0.42202	0.998000	0.56505	0.714000	0.41099	3.157000	0.50716	2.134000	0.65973	0.460000	0.39030	ATC	.		0.592	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_033379	
CFAP57	149465	hgsc.bcm.edu;bcgsc.ca	37	1	43664184	43664184	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr1:43664184A>G	ENST00000372492.4	+	8	1619	c.1295A>G	c.(1294-1296)gAg>gGg	p.E432G	WDR65_ENST00000528956.1_Missense_Mutation_p.E432G|RNA5SP46_ENST00000362370.1_RNA	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		432										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TACCAAGAAGAGGCATATTCC	0.393																																					p.E432G		.											.	WDR65	91	0			c.A1295G						.						92.0	83.0	86.0					1																	43664184		2203	4300	6503	SO:0001583	missense	149465	exon8			AAGAAGAGGCATA																												ENST00000372492.4:c.1295A>G	1.37:g.43664184A>G	ENSP00000361570:p.Glu432Gly	93.0	0.0		73.0	4.0	NM_001195831	A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	ENST00000372492.4	37		.	.	.	.	.	.	.	.	.	.	A	24.3	4.513918	0.85389	.	.	ENSG00000243710	ENST00000372492;ENST00000528956	T;T	0.09911	2.93;2.93	5.09	5.09	0.68999	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.40791	0.1131	M	0.91768	3.24	0.53688	D	0.999976	D;D	0.71674	0.992;0.998	D;D	0.75484	0.923;0.986	T	0.49293	-0.8955	10	0.42905	T	0.14	.	14.8451	0.70254	1.0:0.0:0.0:0.0	.	432;432	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	G	432	ENSP00000361570:E432G;ENSP00000435310:E432G	ENSP00000361570:E432G	E	+	2	0	WDR65	43436771	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	8.495000	0.90481	1.916000	0.55485	0.379000	0.24179	GAG	.		0.393	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1		
WDR64	128025	hgsc.bcm.edu;bcgsc.ca	37	1	241886642	241886642	+	Silent	SNP	C	C	A	rs145843472		TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr1:241886642C>A	ENST00000366552.2	+	9	1275	c.1068C>A	c.(1066-1068)acC>acA	p.T356T	WDR64_ENST00000437684.2_Silent_p.T356T	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	356										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			ATATCAGCACCAAGCCAGTAG	0.453																																					p.T356T		.											.	WDR64	91	0			c.C1068A						.						113.0	105.0	107.0					1																	241886642		2203	4300	6503	SO:0001819	synonymous_variant	128025	exon9			CAGCACCAAGCCA	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1068C>A	1.37:g.241886642C>A		110.0	0.0		76.0	4.0	NM_144625	B1ANT0|Q7Z573|Q96LY9	Silent	SNP	ENST00000366552.2	37																																																																																				C|1.000;T|0.000		0.453	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625	
WNK1	65125	hgsc.bcm.edu;bcgsc.ca	37	12	922831	922831	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr12:922831G>T	ENST00000315939.6	+	2	1426	c.783G>T	c.(781-783)gaG>gaT	p.E261D	WNK1_ENST00000537687.1_Missense_Mutation_p.E261D|WNK1_ENST00000530271.2_Missense_Mutation_p.E261D|WNK1_ENST00000535572.1_Missense_Mutation_p.E261D|WNK1_ENST00000447667.2_Missense_Mutation_p.E261D	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	261	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CAAAGTCTGAGAGGCAGAGAT	0.318																																					p.E261D	Colon(19;451 567 6672 12618 28860)	.											.	WNK1	916	0			c.G783T						.						74.0	72.0	72.0					12																	922831		2203	4300	6503	SO:0001583	missense	65125	exon2			GTCTGAGAGGCAG	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.783G>T	12.37:g.922831G>T	ENSP00000313059:p.Glu261Asp	113.0	0.0		73.0	5.0	NM_001184985	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050825	0.75960	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000447667;ENST00000530271	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	5.83	4.9	0.64082	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	T	0.58323	0.2114	N	0.16567	0.415	0.80722	D	1	P;P;B	0.38020	0.56;0.615;0.006	B;P;B	0.47118	0.403;0.538;0.014	T	0.62562	-0.6828	10	0.87932	D	0	-17.5842	8.8647	0.35278	0.1929:0.0:0.8071:0.0	.	261;261;261	F5GWT4;Q9H4A3;F6UYG0	.;WNK1_HUMAN;.	D	261	ENSP00000441972:E261D;ENSP00000313059:E261D;ENSP00000444465:E261D;ENSP00000392542:E261D;ENSP00000433548:E261D	ENSP00000313059:E261D	E	+	3	2	WNK1	793092	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.076000	0.57591	1.332000	0.45431	0.561000	0.74099	GAG	.		0.318	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979	
WNK1	65125	hgsc.bcm.edu;bcgsc.ca	37	12	994233	994233	+	Silent	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr12:994233T>C	ENST00000315939.6	+	19	4906	c.4263T>C	c.(4261-4263)gtT>gtC	p.V1421V	WNK1_ENST00000537687.1_Silent_p.V1681V|WNK1_ENST00000530271.2_Silent_p.V1919V|WNK1_ENST00000535572.1_Silent_p.V1174V|WNK1_ENST00000340908.4_Silent_p.V1014V	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1421					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TACCTGCAGTTGTCTCAATAT	0.463																																					p.V1681V	Colon(19;451 567 6672 12618 28860)	.											.	WNK1	916	0			c.T5043C						.						176.0	176.0	176.0					12																	994233		2203	4300	6503	SO:0001819	synonymous_variant	65125	exon19			TGCAGTTGTCTCA	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.4263T>C	12.37:g.994233T>C		103.0	0.0		99.0	4.0	NM_001184985	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	ENST00000315939.6	37	CCDS8506.1																																																																																			.		0.463	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979	
WSB2	55884	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	118472835	118472835	+	Silent	SNP	C	C	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr12:118472835C>G	ENST00000315436.3	-	8	1149	c.1008G>C	c.(1006-1008)ggG>ggC	p.G336G	WSB2_ENST00000542304.1_Silent_p.G111G|WSB2_ENST00000535496.1_Silent_p.G338G|WSB2_ENST00000536738.1_5'Flank|WSB2_ENST00000441406.2_Silent_p.G353G|WSB2_ENST00000544233.1_Silent_p.G126G	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	336					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGCAGCAAAGCCCATTGGTCA	0.478											OREG0022175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G336G		.											.	WSB2	91	0			c.G1008C						.						81.0	78.0	79.0					12																	118472835		2203	4300	6503	SO:0001819	synonymous_variant	55884	exon8			GCAAAGCCCATTG	AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"""WD repeat domain containing"""	19222	protein-coding gene	gene with protein product			"""WD repeat and SOCS box-containing 2"""			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.1008G>C	12.37:g.118472835C>G		113.0	0.0	1488	117.0	9.0	NM_018639	B4DIE6|B4DPV6|Q9NRX9	Silent	SNP	ENST00000315436.3	37	CCDS9186.1																																																																																			.		0.478	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	NM_018639	
XYLB	9942	hgsc.bcm.edu;bcgsc.ca	37	3	38416703	38416703	+	Silent	SNP	C	C	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr3:38416703C>T	ENST00000207870.3	+	12	1047	c.957C>T	c.(955-957)caC>caT	p.H319H	XYLB_ENST00000542835.1_Silent_p.H182H	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	319					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		TGGAAGGCCACATCTTCTGCA	0.607																																					p.H319H		.											.	XYLB	91	0			c.C957T						.						124.0	88.0	100.0					3																	38416703		2203	4300	6503	SO:0001819	synonymous_variant	9942	exon12			AGGCCACATCTTC	AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"""xylulokinase (H. influenzae) homolog"""			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.957C>T	3.37:g.38416703C>T		134.0	0.0		88.0	4.0	NM_005108	B2RAW4|B4DDT2|B9EH64	Silent	SNP	ENST00000207870.3	37	CCDS2678.1																																																																																			.		0.607	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2	NM_005108	
YME1L1	10730	hgsc.bcm.edu;bcgsc.ca	37	10	27409405	27409405	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr10:27409405T>C	ENST00000326799.3	-	14	1689	c.1541A>G	c.(1540-1542)gAa>gGa	p.E514G	YME1L1_ENST00000375972.3_Missense_Mutation_p.E424G|YME1L1_ENST00000376016.3_Missense_Mutation_p.E457G	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	514					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTTCAAAATTTCTGTTCGACC	0.343																																					p.E514G		.											.	YME1L1	91	0			c.A1541G						.						95.0	91.0	92.0					10																	27409405		2203	4300	6503	SO:0001583	missense	10730	exon14			AAAATTTCTGTTC	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.1541A>G	10.37:g.27409405T>C	ENSP00000318480:p.Glu514Gly	117.0	0.0		88.0	4.0	NM_139312	B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.325619	0.81580	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000546122	T;T;T	0.79845	-1.31;-1.31;-1.31	5.72	5.72	0.89469	Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.89663	0.6780	M	0.78916	2.43	0.80722	D	1	D;D;D	0.76494	0.999;0.968;0.999	D;P;D	0.75484	0.986;0.852;0.96	D	0.90862	0.4739	10	0.87932	D	0	-30.5238	16.2988	0.82793	0.0:0.0:0.0:1.0	.	424;457;514	B4DNM1;Q96TA2-2;Q96TA2	.;.;YMEL1_HUMAN	G	457;514;514;424;260	ENSP00000365184:E457G;ENSP00000318480:E514G;ENSP00000365139:E424G	ENSP00000318480:E514G	E	-	2	0	YME1L1	27449411	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	7.954000	0.87848	2.311000	0.77944	0.533000	0.62120	GAA	.		0.343	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312	
ZAN	7455	ucsc.edu;bcgsc.ca	37	7	100334459	100334459	+	RNA	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr7:100334459A>G	ENST00000348028.3	+	0	446				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ATGGAATCGAACAGCTTCCAC	0.642																																					.		.											.	ZAN	142	0			.						.						8.0	10.0	9.0					7																	100334459		1882	3857	5739			7455	.			AATCGAACAGCTT	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100334459A>G		26.0	0.0		24.0	4.0	.	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37		.	.	.	.	.	.	.	.	.	.	A	6.217	0.408112	0.11754	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.01484	4.84;4.84;4.84	4.55	-8.47	0.00939	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	1.172710	0.06521	N	0.739724	T	0.00666	0.0022	N	0.00483	-1.445	0.09310	N	0.999998	B;B	0.11235	0.003;0.004	B;B	0.12156	0.004;0.007	T	0.54748	-0.8247	10	0.40728	T	0.16	.	10.8487	0.46757	0.1393:0.1028:0.7579:0.0	.	94;94	F5H0T8;Q9Y493	.;ZAN_HUMAN	S	94	ENSP00000445943:N94S;ENSP00000445091:N94S;ENSP00000444427:N94S	ENSP00000423579:N94S	N	+	2	0	ZAN	100172395	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.775000	0.04679	-1.854000	0.01163	0.459000	0.35465	AAC	.		0.642	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386	
ZBTB32	27033	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	36206306	36206306	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr19:36206306C>A	ENST00000392197.2	+	3	1096	c.778C>A	c.(778-780)Cct>Act	p.P260T	KMT2B_ENST00000341701.1_5'Flank|KMT2B_ENST00000222270.7_5'Flank|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_5'Flank|ZBTB32_ENST00000262630.3_Missense_Mutation_p.P260T			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	260					DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGGGGCCAGCCTGCCCTGTG	0.672																																					p.P260T		.											.	ZBTB32	92	0			c.C778A						.						41.0	44.0	43.0					19																	36206306		2201	4297	6498	SO:0001583	missense	27033	exon2			GGCCAGCCTGCCC	AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16763	protein-coding gene	gene with protein product	"""repressor of GATA"""	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.778C>A	19.37:g.36206306C>A	ENSP00000376035:p.Pro260Thr	80.0	0.0		34.0	8.0	NM_014383	Q8WVP2	Missense_Mutation	SNP	ENST00000392197.2	37	CCDS12471.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.779130	0.49891	.	.	ENSG00000011590	ENST00000262630;ENST00000392197	T;T	0.09723	2.95;2.95	5.33	-0.725	0.11174	.	0.314536	0.23405	N	0.048535	T	0.06280	0.0162	L	0.27053	0.805	0.26342	N	0.977351	B	0.34103	0.437	B	0.34590	0.186	T	0.25882	-1.0119	10	0.48119	T	0.1	-0.6659	4.803	0.13307	0.0:0.5096:0.1541:0.3363	.	260	Q9Y2Y4	ZBT32_HUMAN	T	260	ENSP00000262630:P260T;ENSP00000376035:P260T	ENSP00000262630:P260T	P	+	1	0	ZBTB32	40898146	0.001000	0.12720	1.000000	0.80357	0.995000	0.86356	-0.165000	0.09968	0.203000	0.20529	0.655000	0.94253	CCT	.		0.672	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3	NM_014383	
ZKSCAN3	80317	hgsc.bcm.edu;bcgsc.ca	37	6	28333988	28333988	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr6:28333988A>G	ENST00000377255.3	+	7	1840	c.1543A>G	c.(1543-1545)Aaa>Gaa	p.K515E	ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.K515E|ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.K367E	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	515					autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						TGCGTGTGGAAAAGGCTTCAC	0.423																																					p.K515E		.											.	ZKSCAN3	92	0			c.A1543G						.						104.0	103.0	104.0					6																	28333988		2203	4300	6503	SO:0001583	missense	80317	exon6			TGTGGAAAAGGCT	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13853	protein-coding gene	gene with protein product		612791	"""zinc finger protein 306"", ""zinc finger protein 309"""	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.1543A>G	6.37:g.28333988A>G	ENSP00000366465:p.Lys515Glu	88.0	0.0		72.0	4.0	NM_024493	B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Missense_Mutation	SNP	ENST00000377255.3	37	CCDS4650.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.592151	0.66219	.	.	ENSG00000189298	ENST00000252211;ENST00000341464;ENST00000377255	T;T;T	0.27104	1.69;1.69;1.69	3.97	3.97	0.46021	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32645	0.0836	L	0.53729	1.69	0.31381	N	0.678991	D	0.76494	0.999	D	0.83275	0.996	T	0.09443	-1.0674	9	0.66056	D	0.02	.	11.9945	0.53194	1.0:0.0:0.0:0.0	.	515	Q9BRR0	ZKSC3_HUMAN	E	515;367;515	ENSP00000252211:K515E;ENSP00000341883:K367E;ENSP00000366465:K515E	ENSP00000252211:K515E	K	+	1	0	ZKSCAN3	28441967	1.000000	0.71417	1.000000	0.80357	0.296000	0.27459	4.047000	0.57383	1.666000	0.50821	0.533000	0.62120	AAA	.		0.423	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493	
ZNF208	7757	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	22156027	22156027	+	Silent	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr19:22156027A>G	ENST00000397126.4	-	4	1957	c.1809T>C	c.(1807-1809)caT>caC	p.H603H	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	603					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTCACCAGTATGAATTCTCT	0.363																																					p.H603H		.											.	ZNF208	7	0			c.T1809C						.						51.0	54.0	53.0					19																	22156027		2088	4235	6323	SO:0001819	synonymous_variant	7757	exon4			ACCAGTATGAATT	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1809T>C	19.37:g.22156027A>G		63.0	0.0		62.0	31.0	NM_007153		Silent	SNP	ENST00000397126.4	37	CCDS54240.1																																																																																			.		0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153	
ZNF280D	54816	hgsc.bcm.edu;bcgsc.ca	37	15	56924037	56924037	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr15:56924037T>C	ENST00000267807.7	-	22	2815	c.2599A>G	c.(2599-2601)Aaa>Gaa	p.K867E	RP11-1129I3.1_ENST00000562300.1_RNA|ZNF280D_ENST00000559237.1_Missense_Mutation_p.K854E	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	867					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TTGTGATCTTTAATCTGATCA	0.323																																					p.K867E		.											.	ZNF280D	46	0			c.A2599G						.						135.0	133.0	134.0					15																	56924037		2192	4291	6483	SO:0001583	missense	54816	exon22			GATCTTTAATCTG	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.2599A>G	15.37:g.56924037T>C	ENSP00000267807:p.Lys867Glu	93.0	0.0		74.0	4.0	NM_017661	A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	ENST00000267807.7	37	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.732159	0.00687	.	.	ENSG00000137871	ENST00000267807;ENST00000455329	T	0.03065	4.06	5.58	0.757	0.18427	.	.	.	.	.	T	0.01976	0.0062	N	0.12182	0.205	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.48139	-0.9061	9	0.06236	T	0.91	-1.2374	8.4686	0.32971	0.0:0.3075:0.0:0.6925	.	867	Q6N043	Z280D_HUMAN	E	867;854	ENSP00000267807:K867E	ENSP00000267807:K867E	K	-	1	0	ZNF280D	54711329	0.006000	0.16342	0.002000	0.10522	0.052000	0.14988	-0.140000	0.10342	-0.098000	0.12285	0.460000	0.39030	AAA	.		0.323	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867	
ZNF302	55900	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	35173713	35173713	+	Missense_Mutation	SNP	C	C	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr19:35173713C>G	ENST00000446502.2	+	4	381	c.173C>G	c.(172-174)tCt>tGt	p.S58C	ZNF302_ENST00000457781.2_Missense_Mutation_p.S14C|ZNF302_ENST00000423823.2_Missense_Mutation_p.S14C|ZNF302_ENST00000505365.2_Missense_Mutation_p.S14C|ZNF302_ENST00000507959.1_Missense_Mutation_p.S14C|ZNF302_ENST00000509528.1_Intron|ZNF302_ENST00000505242.1_Missense_Mutation_p.S14C			Q9NR11	ZN302_HUMAN	zinc finger protein 302	14	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ATAGACTTCTCTCATGAAGAG	0.438																																					p.S14C		.											.	.	.	0			c.C41G						.						76.0	63.0	67.0					19																	35173713		1840	4053	5893	SO:0001583	missense	55900	exon3			ACTTCTCTCATGA	AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"""Zinc fingers, C2H2-type"", ""-"""	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.173C>G	19.37:g.35173713C>G	ENSP00000396379:p.Ser58Cys	296.0	0.0		281.0	89.0	NM_018443	Q658J3|Q9BZD8|Q9P0J4	Missense_Mutation	SNP	ENST00000446502.2	37		.	.	.	.	.	.	.	.	.	.	C	12.70	2.015761	0.35606	.	.	ENSG00000089335	ENST00000502743;ENST00000506901;ENST00000457781;ENST00000505242;ENST00000505163;ENST00000423823;ENST00000507959;ENST00000446502;ENST00000505365	T;T;T;T;T;T;T;T;T	0.02944	4.1;4.1;4.1;4.1;4.1;4.1;4.1;4.1;4.1	1.39	1.39	0.22231	.	.	.	.	.	T	0.16471	0.0396	M	0.92122	3.275	0.22112	N	0.999352	D;P;P	0.89917	1.0;0.833;0.895	D;P;P	0.79108	0.992;0.638;0.658	T	0.03175	-1.1064	9	0.87932	D	0	.	6.0849	0.19962	0.0:1.0:0.0:0.0	.	14;58;14	B4DMN2;E7EVR1;Q9NR11-2	.;.;.	C	14;14;14;14;14;14;14;58;14	ENSP00000423460:S14C;ENSP00000424292:S14C;ENSP00000391067:S14C;ENSP00000421028:S14C;ENSP00000421696:S14C;ENSP00000405219:S14C;ENSP00000421201:S14C;ENSP00000396379:S58C;ENSP00000423235:S14C	ENSP00000405219:S14C	S	+	2	0	ZNF302	39865553	0.034000	0.19679	0.998000	0.56505	0.921000	0.55340	0.870000	0.28010	0.737000	0.32582	0.313000	0.20887	TCT	.		0.438	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372731.1		
ZNF284	342909	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	44590982	44590982	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr19:44590982G>A	ENST00000421176.3	+	5	1567	c.1351G>A	c.(1351-1353)Gga>Aga	p.G451R	RNU6-902P_ENST00000517212.1_RNA|ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	451					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				GGTCCACACGGGAGAGAGACC	0.423																																					p.G451R		.											.	.	.	0			c.G1351A						.						80.0	86.0	84.0					19																	44590982		2199	4299	6498	SO:0001583	missense	342909	exon5			CACACGGGAGAGA	AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"""Zinc fingers, C2H2-type"", ""-"""	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.1351G>A	19.37:g.44590982G>A	ENSP00000411032:p.Gly451Arg	168.0	0.0		154.0	52.0	NM_001037813	Q86WM1	Missense_Mutation	SNP	ENST00000421176.3	37	CCDS46099.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299969	0.81136	.	.	ENSG00000186026	ENST00000421176	T	0.26223	1.75	2.37	1.3	0.21679	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45657	0.1353	M	0.70787	2.145	0.25856	N	0.983884	D	0.89917	1.0	D	0.91635	0.999	T	0.20605	-1.0270	9	0.72032	D	0.01	.	7.9186	0.29833	0.1366:0.0:0.8634:0.0	.	451	Q2VY69	ZN284_HUMAN	R	451	ENSP00000411032:G451R	ENSP00000411032:G451R	G	+	1	0	ZNF284	49282822	0.279000	0.24239	0.005000	0.12908	0.984000	0.73092	3.147000	0.50639	0.319000	0.23209	0.462000	0.41574	GGA	.		0.423	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460473.1	NM_001037813	
ZNF317	57693	hgsc.bcm.edu;bcgsc.ca	37	19	9271853	9271853	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr19:9271853T>C	ENST00000247956.6	+	7	1837	c.1532T>C	c.(1531-1533)tTc>tCc	p.F511S	ZNF317_ENST00000360385.3_Missense_Mutation_p.F479S	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	511					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GGCAAGGCCTTCAGGAACCAG	0.552																																					p.F511S		.											.	ZNF317	90	0			c.T1532C						.						81.0	68.0	72.0					19																	9271853		2203	4300	6503	SO:0001583	missense	57693	exon7			AGGCCTTCAGGAA	AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.1532T>C	19.37:g.9271853T>C	ENSP00000247956:p.Phe511Ser	65.0	0.0		70.0	5.0	NM_020933	Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	SNP	ENST00000247956.6	37	CCDS12210.1	.	.	.	.	.	.	.	.	.	.	T	17.66	3.444134	0.63067	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	T;T	0.44482	0.92;0.92	2.72	2.72	0.32119	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44285	D	0.000478	T	0.63510	0.2517	M	0.87971	2.92	0.37440	D	0.91439	D;D	0.89917	1.0;1.0	D;D	0.87578	0.986;0.998	T	0.70439	-0.4871	10	0.87932	D	0	-25.5393	7.2844	0.26330	0.0:0.0:0.0:1.0	.	479;511	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	S	511;479	ENSP00000247956:F511S;ENSP00000353554:F479S	ENSP00000247956:F511S	F	+	2	0	ZNF317	9132853	0.825000	0.29262	0.386000	0.26170	0.754000	0.42855	2.301000	0.43628	1.502000	0.48669	0.482000	0.46254	TTC	.		0.552	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933	
ZNF304	57343	hgsc.bcm.edu;bcgsc.ca	37	19	57867978	57867978	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr19:57867978G>T	ENST00000282286.5	+	3	914	c.741G>T	c.(739-741)gaG>gaT	p.E247D	ZNF304_ENST00000391705.3_Missense_Mutation_p.E247D|ZNF304_ENST00000598744.1_Missense_Mutation_p.E205D|ZNF304_ENST00000443917.2_Missense_Mutation_p.E294D			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	247					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CTCATGCTGAGGTGAGACCCT	0.438																																					p.E247D		.											.	ZNF304	91	0			c.G741T						.						89.0	85.0	86.0					19																	57867978		2203	4300	6503	SO:0001583	missense	57343	exon3			TGCTGAGGTGAGA	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.741G>T	19.37:g.57867978G>T	ENSP00000282286:p.Glu247Asp	92.0	0.0		94.0	4.0	NM_020657		Missense_Mutation	SNP	ENST00000282286.5	37	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	g	11.55	1.671545	0.29693	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.15256	2.44;2.44;2.44	3.82	-3.28	0.05033	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10937	0.0267	L	0.41079	1.255	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.36720	-0.9736	9	0.66056	D	0.02	.	2.0199	0.03506	0.3923:0.13:0.3494:0.1284	.	247;294	Q9HCX3;E7EQD3	ZN304_HUMAN;.	D	247;247;294	ENSP00000282286:E247D;ENSP00000375586:E247D;ENSP00000401642:E294D	ENSP00000282286:E247D	E	+	3	2	ZNF304	62559790	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.586000	0.23894	-0.595000	0.05828	0.454000	0.30748	GAG	.		0.438	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1		
ZNF318	24149	hgsc.bcm.edu;bcgsc.ca	37	6	43308192	43308192	+	Missense_Mutation	SNP	G	G	T	rs377285454		TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr6:43308192G>T	ENST00000361428.2	-	10	3621	c.3544C>A	c.(3544-3546)Cgc>Agc	p.R1182S	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1182					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CCAGCTTGGCGGTCCAGATTC	0.443																																					p.R1182S		.											.	ZNF318	157	0			c.C3544A						.						41.0	44.0	43.0					6																	43308192		2197	4289	6486	SO:0001583	missense	24149	exon10			CTTGGCGGTCCAG	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.3544C>A	6.37:g.43308192G>T	ENSP00000354964:p.Arg1182Ser	89.0	0.0		59.0	4.0	NM_014345	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435694	0.62955	.	.	ENSG00000171467	ENST00000361428	T	0.49720	0.77	5.69	5.69	0.88448	.	0.057492	0.64402	D	0.000001	T	0.49695	0.1572	M	0.61703	1.905	0.80722	D	1	D	0.54964	0.969	P	0.54460	0.753	T	0.55003	-0.8208	10	0.87932	D	0	-3.3998	13.0671	0.59041	0.0732:0.0:0.9268:0.0	.	1182	Q5VUA4	ZN318_HUMAN	S	1182	ENSP00000354964:R1182S	ENSP00000354964:R1182S	R	-	1	0	ZNF318	43416170	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.058000	0.71126	2.683000	0.91414	0.655000	0.94253	CGC	.		0.443	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345	
ZNF324	25799	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	19	58982592	58982592	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr19:58982592G>T	ENST00000536459.2	+	4	1442	c.733G>T	c.(733-735)Gag>Tag	p.E245*	ZNF324_ENST00000196482.3_Nonsense_Mutation_p.E245*|ZNF324_ENST00000535298.1_Nonsense_Mutation_p.E22*|ZNF446_ENST00000596341.1_5'Flank			O75467	Z324A_HUMAN	zinc finger protein 324	245					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E245K(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GACCTGGGACGAGCTGGGCGA	0.637																																					p.E245X		.											.	ZNF324	90	1	Substitution - Missense(1)	large_intestine(1)	c.G733T						.						25.0	28.0	27.0					19																	58982592		2197	4292	6489	SO:0001587	stop_gained	25799	exon4			TGGGACGAGCTGG	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.733G>T	19.37:g.58982592G>T	ENSP00000444812:p.Glu245*	170.0	0.0		180.0	52.0	NM_014347	B3KRX1	Nonsense_Mutation	SNP	ENST00000536459.2	37	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463256	0.84425	.	.	ENSG00000083812	ENST00000378044;ENST00000196482;ENST00000536459;ENST00000539101;ENST00000535298	.	.	.	3.72	1.2	0.21068	.	0.360135	0.20437	N	0.092359	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	3.8068	0.08780	0.1844:0.259:0.5566:0.0	.	.	.	.	X	245;245;245;235;22	.	ENSP00000196482:E245X	E	+	1	0	ZNF324	63674404	0.677000	0.27577	0.021000	0.16686	0.046000	0.14306	0.923000	0.28757	0.356000	0.24157	0.455000	0.32223	GAG	.		0.637	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347	
ZNF396	252884	hgsc.bcm.edu;bcgsc.ca	37	18	32953458	32953458	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr18:32953458T>C	ENST00000589332.1	-	3	655	c.524A>G	c.(523-525)cAg>cGg	p.Q175R	ZNF396_ENST00000586687.1_Missense_Mutation_p.Q175R|ZNF396_ENST00000306346.1_Missense_Mutation_p.Q175R			Q96N95	ZN396_HUMAN	zinc finger protein 396	175					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TGATGCTCCCTGGAGCTGCTT	0.527																																					p.Q175R		.											.	ZNF396	90	0			c.A524G						.						114.0	101.0	105.0					18																	32953458		2203	4300	6503	SO:0001583	missense	252884	exon3			GCTCCCTGGAGCT	AK055775	CCDS11913.1	18p12	2013-01-09			ENSG00000186496	ENSG00000186496		"""-"", ""Zinc fingers, C2H2-type"""	18824	protein-coding gene	gene with protein product		609600					Standard	NM_145756		Approved	ZSCAN14, FLJ31213	uc010xcf.1	Q96N95	OTTHUMG00000132562	ENST00000589332.1:c.524A>G	18.37:g.32953458T>C	ENSP00000466500:p.Gln175Arg	275.0	0.0		130.0	6.0	NM_145756	A1L3V0|Q8NF98|Q8TD80	Missense_Mutation	SNP	ENST00000589332.1	37		.	.	.	.	.	.	.	.	.	.	T	8.931	0.963336	0.18583	.	.	ENSG00000186496	ENST00000306346;ENST00000399057	T	0.07327	3.2	4.3	-8.6	0.00889	.	.	.	.	.	T	0.03651	0.0104	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.45175	-0.9279	9	0.33141	T	0.24	.	10.9872	0.47528	0.0:0.1576:0.6639:0.1785	.	175	Q96N95-3	.	R	175	ENSP00000302310:Q175R	ENSP00000302310:Q175R	Q	-	2	0	ZNF396	31207456	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.565000	0.05929	-2.202000	0.00745	0.459000	0.35465	CAG	.		0.527	ZNF396-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255766.1	NM_145756	
ZNF461	92283	hgsc.bcm.edu;bcgsc.ca	37	19	37134755	37134755	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr19:37134755T>C	ENST00000588268.1	-	5	469	c.242A>G	c.(241-243)aAa>aGa	p.K81R	ZNF461_ENST00000360357.4_Intron|ZNF461_ENST00000540605.2_5'Flank	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	81					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			tccccaagttttccatgtacc	0.254																																					p.K81R		.											.	.	.	0			c.A242G						.						96.0	83.0	87.0					19																	37134755		915	2073	2988	SO:0001583	missense	92283	exon5			CAAGTTTTCCATG	BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.242A>G	19.37:g.37134755T>C	ENSP00000467931:p.Lys81Arg	96.0	0.0		92.0	4.0	NM_153257	A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	ENST00000588268.1	37	CCDS54257.1	.	.	.	.	.	.	.	.	.	.	T	7.933	0.740996	0.15642	.	.	ENSG00000197808	ENST00000396893;ENST00000396892	.	.	.	0.625	0.625	0.17665	.	.	.	.	.	T	0.22003	0.0530	N	0.12961	0.28	0.25117	N	0.990676	P	0.34587	0.458	B	0.39152	0.292	T	0.23655	-1.0182	7	0.33940	T	0.23	.	.	.	.	.	81	Q8TAF7	ZN461_HUMAN	R	81;16	.	ENSP00000380101:K16R	K	-	2	0	ZNF461	41826595	0.568000	0.26635	0.281000	0.24762	0.595000	0.36748	0.533000	0.23082	0.488000	0.27723	0.164000	0.16699	AAA	.		0.254	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257	
ZNF511	118472	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	135123793	135123793	+	Splice_Site	SNP	G	G	A			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr10:135123793G>A	ENST00000359035.3	+	4	557		c.e4+1		TUBGCP2_ENST00000470829.1_5'Flank|TUBGCP2_ENST00000417178.2_5'Flank|ZNF511_ENST00000361518.5_Splice_Site|ZNF511_ENST00000463816.2_Splice_Site|ZNF511_ENST00000368554.4_Splice_Site|TUBGCP2_ENST00000368563.2_5'Flank			Q8NB15	ZN511_HUMAN	zinc finger protein 511						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		AAAGCAGAAGGTAGGGAGCCG	0.502																																					.		.											.	ZNF511	90	0			c.554+1G>A						.						58.0	63.0	61.0					10																	135123793		2203	4300	6503	SO:0001630	splice_region_variant	118472	exon4			CAGAAGGTAGGGA	AK091711	CCDS7677.1	10q26.3	2010-04-12			ENSG00000198546	ENSG00000198546		"""Zinc fingers, C2H2-type"""	28445	protein-coding gene	gene with protein product						12477932	Standard	NM_145806		Approved	MGC30006	uc001lmj.1	Q8NB15	OTTHUMG00000019317	ENST00000359035.3:c.554+1G>A	10.37:g.135123793G>A		34.0	0.0		44.0	16.0	NM_145806	A8K8L5|Q8WUP1|Q96BV2	Splice_Site	SNP	ENST00000359035.3	37		.	.	.	.	.	.	.	.	.	.	G	15.68	2.905908	0.52333	.	.	ENSG00000198546	ENST00000361518;ENST00000359035;ENST00000368554	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0977	0.86639	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF511	134973783	1.000000	0.71417	0.971000	0.41717	0.426000	0.31534	8.496000	0.90485	2.475000	0.83589	0.655000	0.94253	.	.		0.502	ZNF511-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051143.1	NM_145806	Intron
ZNF512B	57473	bcgsc.ca;mdanderson.org	37	20	62594498	62594498	+	Silent	SNP	G	G	T	rs527932099		TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_1	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr20:62594498G>T	ENST00000450537.1	-	12	1978	c.1918C>A	c.(1918-1920)Cga>Aga	p.R640R	ZNF512B_ENST00000369888.1_Silent_p.R640R|ZNF512B_ENST00000217130.3_Silent_p.R640R			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	640					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GCCTTGGATCGGTACGTCTTG	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		16636	0.0		0.0	False		,,,				2504	0.001				p.R640R		.											.	ZNF512B	90	0			c.C1918A						.						55.0	32.0	40.0					20																	62594498		2185	4285	6470	SO:0001819	synonymous_variant	57473	exon12			TGGATCGGTACGT	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.1918C>A	20.37:g.62594498G>T		35.0	0.0		20.0	3.0	NM_020713	Q08AK9|Q9ULM4	Silent	SNP	ENST00000450537.1	37	CCDS13548.1																																																																																			.		0.657	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713	
ZNF648	127665	hgsc.bcm.edu;bcgsc.ca	37	1	182026597	182026597	+	Silent	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr1:182026597G>T	ENST00000339948.3	-	2	756	c.549C>A	c.(547-549)tcC>tcA	p.S183S		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	183					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						AGTTCCCTGCGGACGTGTCTA	0.587																																					p.S183S	NSCLC(71;908 1374 5429 20458 35642)	.											.	ZNF648	91	0			c.C549A						.						58.0	63.0	61.0					1																	182026597		2203	4300	6503	SO:0001819	synonymous_variant	127665	exon2			CCCTGCGGACGTG	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.549C>A	1.37:g.182026597G>T		152.0	0.0		96.0	6.0	NM_001009992	B2RP16	Silent	SNP	ENST00000339948.3	37	CCDS30952.1																																																																																			.		0.587	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597	
ZNF727	442319	hgsc.bcm.edu;bcgsc.ca	37	7	63538877	63538877	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr7:63538877A>G	ENST00000550760.3	+	4	1629	c.1450A>G	c.(1450-1452)Aat>Gat	p.N484D	RP11-3N2.13_ENST00000445978.1_RNA	NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	484					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						AAGTGCAAAGAATGTGGCAAA	0.388																																					p.N484D		.											.	.	.	0			c.A1450G						.						53.0	49.0	50.0					7																	63538877		692	1591	2283	SO:0001583	missense	442319	exon4			GCAAAGAATGTGG			7q11.21	2014-09-09	2014-09-09	2014-09-09	ENSG00000214652	ENSG00000214652		"""Zinc fingers, C2H2-type"", ""-"""	22785	pseudogene	pseudogene			"""zinc finger protein 727, pseudogene"""	ZNF727P			Standard	NM_001159522		Approved		uc011kdm.2	A8MUV8	OTTHUMG00000156536	ENST00000550760.3:c.1450A>G	7.37:g.63538877A>G	ENSP00000447987:p.Asn484Asp	104.0	0.0		84.0	4.0	NM_001159522		Missense_Mutation	SNP	ENST00000550760.3	37	CCDS55113.1	.	.	.	.	.	.	.	.	.	.	A	8.341	0.828632	0.16749	.	.	ENSG00000257482	ENST00000550760	T	0.04502	3.61	0.988	0.988	0.19796	.	.	.	.	.	T	0.02304	0.0071	N	0.08118	0	0.09310	N	1	B	0.17852	0.024	B	0.06405	0.002	T	0.48896	-0.8994	8	.	.	.	.	5.7933	0.18373	1.0:0.0:0.0:0.0	.	484	A8MUV8	ZN727_HUMAN	D	484	ENSP00000447987:N484D	.	N	+	1	0	ZNF727	63176312	0.000000	0.05858	0.124000	0.21820	0.119000	0.20118	0.706000	0.25690	0.363000	0.24346	0.352000	0.21897	AAT	.		0.388	ZNF727-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001159522	
ZNF91	7644	hgsc.bcm.edu;bcgsc.ca	37	19	23542731	23542731	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HS-01A-11D-A183-10	TCGA-ES-A2HS-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	dcf45005-7e6d-4c26-9994-f973da7e814f	a9c45810-b691-4963-b215-977e8f93d1c2	g.chr19:23542731G>T	ENST00000300619.7	-	4	3255	c.3050C>A	c.(3049-3051)aCt>aAt	p.T1017N	ZNF91_ENST00000397082.2_Missense_Mutation_p.T985N|ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000596528.1_5'Flank	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	1017					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTTCTCTCCAGTGTGCATCCT	0.383																																					p.T1017N		.											.	ZNF91	90	0			c.C3050A						.						95.0	97.0	97.0					19																	23542731		2192	4296	6488	SO:0001583	missense	7644	exon4			TCTCCAGTGTGCA	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.3050C>A	19.37:g.23542731G>T	ENSP00000300619:p.Thr1017Asn	72.0	0.0		88.0	4.0	NM_003430	A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	8.568	0.879416	0.17467	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.26067	1.76;1.76	1.47	-0.478	0.12093	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36524	0.0970	L	0.39147	1.195	0.27898	N	0.939069	D;D	0.76494	0.958;0.999	B;D	0.81914	0.368;0.995	T	0.25328	-1.0135	9	0.87932	D	0	.	8.2531	0.31739	0.0:0.3106:0.6894:0.0	.	985;1017	Q05481-2;Q05481	.;ZNF91_HUMAN	N	1017;985	ENSP00000300619:T1017N;ENSP00000380272:T985N	ENSP00000300619:T1017N	T	-	2	0	ZNF91	23334571	0.107000	0.21998	0.050000	0.19076	0.089000	0.18198	0.222000	0.17699	-0.184000	0.10567	0.175000	0.17021	ACT	.		0.383	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430	
