#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_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_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ABCA13	154664	hgsc.bcm.edu	37	7	48563848	48563848	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr7:48563848C>T	ENST00000435803.1	+	54	14080	c.14056C>T	c.(14056-14058)Cat>Tat	p.H4686Y	ABCA13_ENST00000544596.1_Missense_Mutation_p.H416Y	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4686					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCCCAGGGGTCATTCTACTCT	0.388																																																	0													61.0	57.0	58.0					7																	48563848		1842	4093	5935	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14056C>T	7.37:g.48563848C>T	ENSP00000411096:p.His4686Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	8.573	0.880469	0.17467	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.87029	-1.98;-2.2;-2.16	5.43	4.54	0.55810	.	0.693357	0.13152	N	0.409810	T	0.66848	0.2831	N	0.03608	-0.345	0.09310	N	1	B;B;P	0.37955	0.435;0.108;0.612	B;B;B	0.33620	0.167;0.15;0.121	T	0.59408	-0.7460	10	0.02654	T	1	.	11.3159	0.49392	0.0:0.916:0.0:0.084	.	416;2388;4686	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	Y	4686;459;416	ENSP00000411096:H4686Y;ENSP00000391042:H459Y;ENSP00000442634:H416Y	ENSP00000391042:H459Y	H	+	1	0	ABCA13	48534394	0.006000	0.16342	0.010000	0.14722	0.027000	0.11550	2.118000	0.41949	2.687000	0.91594	0.655000	0.94253	CAT		0.388	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2		NM_152701	
ABCB1	5243	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	87196210	87196210	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr7:87196210C>A	ENST00000265724.3	-	7	838	c.421G>T	c.(421-423)Gga>Tga	p.G141*	ABCB1_ENST00000543898.1_Intron	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	141	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)	p.G141*(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	ATTTGTCTTCCAGCTGCCAGG	0.433																																																	1	Substitution - Nonsense(1)	kidney(1)											116.0	113.0	114.0					7																	87196210		2203	4300	6503	SO:0001587	stop_gained	5243			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.421G>T	7.37:g.87196210C>A	ENSP00000265724:p.Gly141*	Somatic		WXS	Illumina HiSeq	Phase_I	A8K294|B5AK60|Q12755|Q14812	Nonsense_Mutation	SNP	ENST00000265724.3	37	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	41	8.722636	0.98929	.	.	ENSG00000085563	ENST00000265724	.	.	.	5.76	5.76	0.90799	.	0.100347	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-19.1656	18.1543	0.89686	0.0:1.0:0.0:0.0	.	.	.	.	X	141	.	ENSP00000265724:G141X	G	-	1	0	ABCB1	87034146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.502000	0.60400	2.732000	0.93576	0.655000	0.94253	GGA		0.433	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2		NM_000927	
ACACB	32	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	109689927	109689927	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr12:109689927A>T	ENST00000338432.7	+	42	5986	c.5867A>T	c.(5866-5868)cAc>cTc	p.H1956L	ACACB_ENST00000377848.3_Missense_Mutation_p.H1956L|ACACB_ENST00000543201.1_Missense_Mutation_p.H622L|ACACB_ENST00000377854.5_Missense_Mutation_p.H1886L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1956	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.H1956L(1)|p.H622L(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GAGAATTCCCACATCATCCTC	0.562																																																	2	Substitution - Missense(2)	kidney(2)											69.0	56.0	61.0					12																	109689927		2203	4300	6503	SO:0001583	missense	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.5867A>T	12.37:g.109689927A>T	ENSP00000341044:p.His1956Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.672888	0.88445	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201;ENST00000396233	D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39	4.84	4.84	0.62591	Carboxyl transferase (1);Acetyl-coenzyme A carboxyltransferase, N-terminal (1);	0.045951	0.85682	D	0.000000	D	0.98454	0.9485	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98917	1.0782	10	0.46703	T	0.11	.	15.1445	0.72641	1.0:0.0:0.0:0.0	.	1956	O00763	ACACB_HUMAN	L	1956;1956;1886;1187;622;65	ENSP00000341044:H1956L;ENSP00000367079:H1956L;ENSP00000367085:H1886L;ENSP00000444075:H622L	ENSP00000341044:H1956L	H	+	2	0	ACACB	108174310	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	9.221000	0.95188	2.114000	0.64651	0.460000	0.39030	CAC		0.562	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1		NM_001093	
AKAP9	10142	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	91631974	91631974	+	Missense_Mutation	SNP	T	T	A	rs371599265		TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr7:91631974T>A	ENST00000359028.2	+	9	3004	c.2779T>A	c.(2779-2781)Tct>Act	p.S927T	AKAP9_ENST00000356239.3_Missense_Mutation_p.S915T|AKAP9_ENST00000358100.2_Missense_Mutation_p.S927T			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	927	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.S927T(1)|p.S915T(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AATGAAAAGTTCTGTCTTTGA	0.313			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	2	Substitution - Missense(2)	kidney(2)						T	THR/SER,THR/SER	0,4406		0,0,2203	41.0	43.0	42.0		2743,2743	1.1	0.0	7		42	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AKAP9	NM_005751.4,NM_147185.2	58,58	0,1,6502	AA,AT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging	915/3908,915/3900	91631974	1,13005	2203	4300	6503	SO:0001583	missense	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.2779T>A	7.37:g.91631974T>A	ENSP00000351922:p.Ser927Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	T	0.011	-1.705690	0.00719	0.0	1.16E-4	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.03580	3.89;3.89;3.88	5.29	1.1	0.20463	.	0.701372	0.11820	N	0.526299	T	0.04952	0.0133	L	0.59436	1.845	0.09310	N	1	B;B;B;B	0.32245	0.361;0.152;0.152;0.128	B;B;B;B	0.27608	0.081;0.08;0.08;0.028	T	0.28038	-1.0056	10	0.87932	D	0	.	9.3636	0.38210	0.1192:0.0:0.4879:0.3929	.	927;915;915;927	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	T	915;927;927;927;927	ENSP00000348573:S915T;ENSP00000351922:S927T;ENSP00000350813:S927T	ENSP00000348573:S915T	S	+	1	0	AKAP9	91469910	0.000000	0.05858	0.007000	0.13788	0.030000	0.12068	-0.035000	0.12205	0.346000	0.23899	0.533000	0.62120	TCT		0.313	AKAP9-202	KNOWN	basic	protein_coding	protein_coding			NM_005751	
ANKRD31	256006	hgsc.bcm.edu;ucsc.edu	37	5	74400774	74400774	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr5:74400774C>A	ENST00000274361.3	-	21	4630	c.4439G>T	c.(4438-4440)gGa>gTa	p.G1480V	ANKRD31_ENST00000506364.2_Missense_Mutation_p.G1537V|ANKRD31_ENST00000504022.1_5'UTR	NM_001164443.1	NP_001157915.1	Q8N7Z5	ANR31_HUMAN	ankyrin repeat domain 31	1480										endometrium(1)|kidney(4)	5						CTGCATGCTTCCAGAAACAGG	0.423																																																	0													64.0	54.0	57.0					5																	74400774		692	1591	2283	SO:0001583	missense	256006			AK097510	CCDS47233.1	5q13.3	2013-01-10			ENSG00000145700	ENSG00000145700		"""Ankyrin repeat domain containing"""	26853	protein-coding gene	gene with protein product							Standard	NM_001164443		Approved	FLJ40191	uc003kdo.2	Q8N7Z5	OTTHUMG00000162649	ENST00000274361.3:c.4439G>T	5.37:g.74400774C>A	ENSP00000274361:p.Gly1480Val	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000274361.3	37		.	.	.	.	.	.	.	.	.	.	C	8.649	0.897749	0.17686	.	.	ENSG00000145700	ENST00000274361	T	0.60797	0.16	5.57	2.86	0.33363	.	.	.	.	.	T	0.59088	0.2168	L	0.53249	1.67	0.09310	N	0.999997	.	.	.	.	.	.	T	0.52223	-0.8604	7	0.72032	D	0.01	.	9.7819	0.40653	0.0:0.7134:0.0:0.2866	.	.	.	.	V	1480	ENSP00000274361:G1480V	ENSP00000274361:G1480V	G	-	2	0	ANKRD31	74436530	0.372000	0.25064	0.001000	0.08648	0.016000	0.09150	0.322000	0.19576	0.324000	0.23333	-0.142000	0.14014	GGA		0.423	ANKRD31-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001164443	
ANKRD33	341405	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	52282005	52282005	+	5'UTR	SNP	C	C	T			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr12:52282005C>T	ENST00000340970.4	+	0	5				ANKRD33_ENST00000301190.6_Missense_Mutation_p.S12F|ANKRD33_ENST00000538991.1_5'UTR			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.S12F(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		TGCGTTGCTTCCTGGGGAGGG	0.607																																																	1	Substitution - Missense(1)	kidney(1)											116.0	112.0	114.0					12																	52282005		2203	4300	6503	SO:0001623	5_prime_UTR_variant	341405				CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"""Ankyrin repeat domain containing"""	13788	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 7"""	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.-367C>T	12.37:g.52282005C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Missense_Mutation	SNP	ENST00000340970.4	37	CCDS44892.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136403	0.37728	.	.	ENSG00000167612	ENST00000301190	T	0.22539	1.95	3.17	2.27	0.28462	.	.	.	.	.	T	0.12518	0.0304	N	0.14661	0.345	0.26348	N	0.977254	P;B	0.44816	0.844;0.033	B;B	0.41619	0.361;0.018	T	0.10989	-1.0606	9	0.72032	D	0.01	.	6.4759	0.22034	0.0:0.8628:0.0:0.1372	.	12;12	F8VTQ6;Q7Z3H0-2	.;.	F	12	ENSP00000301190:S12F	ENSP00000301190:S12F	S	+	2	0	ANKRD33	50568272	0.000000	0.05858	0.062000	0.19696	0.344000	0.29017	-0.088000	0.11198	0.900000	0.36469	0.462000	0.41574	TCC		0.607	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404515.1		NM_182608	
ARHGEF17	9828	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	73066671	73066671	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr11:73066671delC	ENST00000263674.3	+	4	3897	c.3547delC	c.(3547-3549)cctfs	p.P1183fs	AP002761.1_ENST00000582555.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1183	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GGAGGCGAGGCCTGCCTTTCT	0.557																																																	0													99.0	93.0	95.0					11																	73066671		2200	4293	6493	SO:0001589	frameshift_variant	9828			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.3547delC	11.37:g.73066671delC	ENSP00000263674:p.Pro1183fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Frame_Shift_Del	DEL	ENST00000263674.3	37	CCDS8221.1																																																																																				0.557	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1		NM_014786	
ATP5SL	55101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	41942328	41942328	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr19:41942328A>G	ENST00000221943.9	-	3	270	c.265T>C	c.(265-267)Ttt>Ctt	p.F89L	ATP5SL_ENST00000438807.3_Intron|ATP5SL_ENST00000592922.2_Intron|ATP5SL_ENST00000589970.1_Missense_Mutation_p.F89L|ATP5SL_ENST00000595425.1_Intron|ATP5SL_ENST00000301183.11_Missense_Mutation_p.F95L|ATP5SL_ENST00000597457.1_Intron|ATP5SL_ENST00000417807.3_Missense_Mutation_p.F95L|ATP5SL_ENST00000590641.2_Intron	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	89						mitochondrion (GO:0005739)		p.F89L(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						AGGATGAAAAAGGCACCTGCG	0.557																																																	1	Substitution - Missense(1)	kidney(1)											155.0	129.0	138.0					19																	41942328		2203	4300	6503	SO:0001583	missense	55101			AK001103	CCDS33032.1, CCDS54269.1, CCDS54270.1, CCDS54271.1, CCDS59389.1, CCDS59390.1	19q13.2	2007-12-13				ENSG00000105341			25496	protein-coding gene	gene with protein product						12477932	Standard	NM_001167867		Approved	FLJ10241	uc002oqv.3	Q9NW81		ENST00000221943.9:c.265T>C	19.37:g.41942328A>G	ENSP00000221943:p.Phe89Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B4DDC0|B4DMZ4|B4DP55|B4DXE8|F5H4W7|K7EMF6|Q96D43	Missense_Mutation	SNP	ENST00000221943.9	37	CCDS33032.1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.610943	0.46631	.	.	ENSG00000105341	ENST00000221943;ENST00000417807;ENST00000301183;ENST00000507129	T;T;T	0.80393	-1.37;-1.37;1.99	4.11	-0.506	0.11989	.	1.040490	0.07627	N	0.927933	T	0.64170	0.2574	N	0.25647	0.755	0.20196	N	0.999923	B;B;B;B	0.13594	0.002;0.001;0.008;0.008	B;B;B;B	0.09377	0.003;0.003;0.004;0.004	T	0.42120	-0.9470	10	0.18710	T	0.47	-30.9269	4.1196	0.10099	0.4451:0.3546:0.2003:0.0	.	95;89;89;95	B4DDC0;B4DMZ4;Q9NW81;F5H4W7	.;.;AT5SL_HUMAN;.	L	89;95;95;165	ENSP00000221943:F89L;ENSP00000403910:F95L;ENSP00000301183:F95L	ENSP00000221943:F89L	F	-	1	0	ATP5SL	46634168	0.239000	0.23836	0.040000	0.18447	0.320000	0.28249	-0.010000	0.12743	-0.203000	0.10251	0.455000	0.32223	TTT		0.557	ATP5SL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460602.1		NM_018035	
ATP8B4	79895	broad.mit.edu;ucsc.edu	37	15	50211075	50211075	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr15:50211075C>A	ENST00000284509.6	-	19	2137	c.1996G>T	c.(1996-1998)Gcc>Tcc	p.A666S	ATP8B4_ENST00000559829.1_Missense_Mutation_p.A666S	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	666						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)	p.A666S(1)		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)		TTAATATTGGCTAGTGATAAA	0.343																																																	1	Substitution - Missense(1)	kidney(1)											160.0	147.0	152.0					15																	50211075		2196	4294	6490	SO:0001583	missense	79895			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.1996G>T	15.37:g.50211075C>A	ENSP00000284509:p.Ala666Ser	Somatic		WXS	Illumina GAIIx	Phase_I	Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837938	0.91117	.	.	ENSG00000104043	ENST00000284509	D	0.93307	-3.2	5.16	5.16	0.70880	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.97219	0.9091	M	0.90425	3.115	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	D	0.97690	1.0178	10	0.62326	D	0.03	.	16.5077	0.84277	0.0:1.0:0.0:0.0	.	666	Q8TF62	AT8B4_HUMAN	S	666	ENSP00000284509:A666S	ENSP00000284509:A666S	A	-	1	0	ATP8B4	47998367	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.537000	0.60643	2.579000	0.87056	0.650000	0.86243	GCC		0.343	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1		NM_024837	
ATP9A	10079	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	50292728	50292728	+	Silent	SNP	A	A	T			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr20:50292728A>T	ENST00000338821.5	-	10	1083	c.819T>A	c.(817-819)gtT>gtA	p.V273V	ATP9A_ENST00000402822.1_Silent_p.V152V|ATP9A_ENST00000311637.5_Silent_p.V137V	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	273					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.V273V(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CAGTGTAAAGAACAACACCCA	0.423																																																	1	Substitution - coding silent(1)	kidney(1)											85.0	75.0	78.0					20																	50292728		2203	4300	6503	SO:0001819	synonymous_variant	10079			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.819T>A	20.37:g.50292728A>T		Somatic		WXS	Illumina HiSeq	Phase_I	E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Silent	SNP	ENST00000338821.5	37	CCDS33489.1																																																																																				0.423	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1		NM_006045	
BAGE2	85319	broad.mit.edu;hgsc.bcm.edu	37	21	11049593	11049593	+	RNA	SNP	G	G	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr21:11049593G>A	ENST00000470054.1	-	0	515							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCGGGCTGTCGCACACTGCAC	0.383																																																	0													74.0	59.0	64.0					21																	11049593		692	1591	2283			85318			AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11049593G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K925|Q08ER0	Missense_Mutation	SNP	ENST00000470054.1	37																																																																																					0.383	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3		NM_182482	
BAP1	8314	hgsc.bcm.edu;ucsc.edu	37	3	52441418	52441418	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr3:52441418G>C	ENST00000460680.1	-	6	905	c.434C>G	c.(433-435)gCc>gGc	p.A145G	BAP1_ENST00000296288.5_Missense_Mutation_p.A145G	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0	Interaction with HIP2.				anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CACACACCTGGCATGGCTATT	0.542			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)			Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0													88.0	92.0	91.0					3																	52441418		2203	4300	6503	SO:0001583	missense	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.434C>G	3.37:g.52441418G>C	ENSP00000417132:p.Ala145Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	37	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828963	0.90955	.	.	ENSG00000163930	ENST00000460680;ENST00000296288;ENST00000470173	T;T;T	0.63255	-0.03;-0.03;-0.03	5.73	5.73	0.89815	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.000000	0.85682	D	0.000000	T	0.79627	0.4478	M	0.86268	2.805	0.80722	D	1	D	0.64830	0.994	P	0.62298	0.9	T	0.82408	-0.0472	10	0.72032	D	0.01	.	15.5052	0.75731	0.0:0.0:0.8611:0.1389	.	145	Q92560	BAP1_HUMAN	G	145;145;66	ENSP00000417132:A145G;ENSP00000296288:A145G;ENSP00000417776:A66G	ENSP00000296288:A145G	A	-	2	0	BAP1	52416458	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.502000	0.81614	2.716000	0.92895	0.655000	0.94253	GCC		0.542	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			
PHF7	51533	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52443568	52443568	+	5'Flank	SNP	A	A	T			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr3:52443568A>T	ENST00000327906.3	+	0	0				BAP1_ENST00000296288.5_Splice_Site|BAP1_ENST00000460680.1_Splice_Site|PHF7_ENST00000347025.2_5'Flank	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.?(2)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		ACAGCCACTCACCCCTGACAT	0.577																																																	2	Unknown(2)	kidney(1)|pleura(1)											211.0	221.0	218.0					3																	52443568		2203	4300	6503	SO:0001631	upstream_gene_variant	8314			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52443568A>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_I	K4DI82	Splice_Site	SNP	ENST00000327906.3	37	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.407509	0.83340	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3639	0.66792	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BAP1	52418608	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	9.090000	0.94144	1.809000	0.52856	0.533000	0.62120	.		0.577	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1		NM_016483	
C19orf38	255809	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	10979899	10979899	+	Silent	SNP	G	G	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr19:10979899G>A	ENST00000397820.4	+	7	656	c.549G>A	c.(547-549)acG>acA	p.T183T	CARM1_ENST00000344150.4_5'Flank|C19orf38_ENST00000592854.1_Silent_p.T183T|CARM1_ENST00000327064.4_5'Flank	NM_001136482.1	NP_001129954.1	A8MVS5	HIDE1_HUMAN	chromosome 19 open reading frame 38	183						integral component of membrane (GO:0016021)		p.T183T(2)		endometrium(1)|kidney(1)	2						CAAAGAAAACGATGCCAGAAG	0.547																																																	2	Substitution - coding silent(2)	kidney(2)											62.0	63.0	62.0					19																	10979899		692	1591	2283	SO:0001819	synonymous_variant	255809				CCDS45970.1	19p13.2	2011-08-02	2008-04-14		ENSG00000214212	ENSG00000214212			34073	protein-coding gene	gene with protein product	"""Highly expressed in immature dendritic cell transcript 1"""						Standard	NM_001136482		Approved	HIDE1	uc010dxm.1	A8MVS5		ENST00000397820.4:c.549G>A	19.37:g.10979899G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RXI3	Silent	SNP	ENST00000397820.4	37	CCDS45970.1																																																																																				0.547	C19orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452622.1		NM_001136482	
C4orf17	84103	hgsc.bcm.edu	37	4	100443802	100443802	+	Silent	SNP	G	G	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr4:100443802G>A	ENST00000326581.4	+	3	635	c.273G>A	c.(271-273)gaG>gaA	p.E91E	C4orf17_ENST00000514652.1_Silent_p.E91E|C4orf17_ENST00000503257.1_3'UTR	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	91			E -> K (in dbSNP:rs17029087). {ECO:0000269|PubMed:11230166, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2}.							central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		CAGTCCAGGAGAGCCCTGTAA	0.493																																																	0													92.0	88.0	89.0					4																	100443802		2203	4300	6503	SO:0001819	synonymous_variant	84103			AL136838	CCDS3649.1	4q23	2008-02-05			ENSG00000138813	ENSG00000138813			25274	protein-coding gene	gene with protein product						11230166	Standard	NM_032149		Approved	DKFZP434G072	uc003huw.3	Q53FE4	OTTHUMG00000131027	ENST00000326581.4:c.273G>A	4.37:g.100443802G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Silent	SNP	ENST00000326581.4	37	CCDS3649.1																																																																																				0.493	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253670.2		NM_032149	
CCDC132	55610	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	92970752	92970752	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr7:92970752A>G	ENST00000305866.5	+	23	2200	c.2072A>G	c.(2071-2073)gAt>gGt	p.D691G	CCDC132_ENST00000544910.1_Missense_Mutation_p.D661G|CCDC132_ENST00000535481.1_Missense_Mutation_p.D411G|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000541136.1_Missense_Mutation_p.D502G	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	691						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.D691G(1)		endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GTTTCAGCTGATCCTACTGCC	0.383																																																	1	Substitution - Missense(1)	kidney(1)											98.0	100.0	99.0					7																	92970752		1962	4150	6112	SO:0001583	missense	55610			AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2072A>G	7.37:g.92970752A>G	ENSP00000307666:p.Asp691Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.487939	0.26686	.	.	ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481	.	.	.	5.55	5.55	0.83447	.	0.048905	0.85682	D	0.000000	T	0.48960	0.1529	N	0.22421	0.69	0.80722	D	1	P;P;P	0.37330	0.455;0.59;0.455	B;B;B	0.39738	0.146;0.308;0.243	T	0.53906	-0.8372	9	0.56958	D	0.05	-0.1871	16.0135	0.80420	1.0:0.0:0.0:0.0	.	411;661;691	B4DS55;F5H5U7;Q96JG6	.;.;CC132_HUMAN	G	691;661;502;411	.	ENSP00000307666:D691G	D	+	2	0	CCDC132	92808688	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	8.707000	0.91367	2.242000	0.73789	0.533000	0.62120	GAT		0.383	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1		NM_017667	
CCT2	10576	broad.mit.edu;ucsc.edu	37	12	69985846	69985846	+	Silent	SNP	G	G	T			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr12:69985846G>T	ENST00000299300.6	+	8	845	c.657G>T	c.(655-657)ctG>ctT	p.L219L	CCT2_ENST00000543146.2_Silent_p.L172L|CCT2_ENST00000544368.2_Silent_p.L219L	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	219					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)	p.L219L(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TAGGCTTCCTGTTGGATAAAA	0.284																																																	1	Substitution - coding silent(1)	kidney(1)											55.0	64.0	61.0					12																	69985846		2202	4299	6501	SO:0001819	synonymous_variant	10576			AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"""Heat Shock Proteins / Chaperonins"""	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.657G>T	12.37:g.69985846G>T		Somatic		WXS	Illumina GAIIx	Phase_I	A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Silent	SNP	ENST00000299300.6	37	CCDS8991.1																																																																																				0.284	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1		NM_006431	
COL24A1	255631	broad.mit.edu;ucsc.edu	37	1	86252141	86252141	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr1:86252141T>A	ENST00000370571.2	-	48	4321	c.3955A>T	c.(3955-3957)Atc>Ttc	p.I1319F	COL24A1_ENST00000436319.1_Missense_Mutation_p.I1319F	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1319	Collagen-like 15.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.I1319F(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CCGCCTCTGATGCCCTAAATA	0.493																																																	1	Substitution - Missense(1)	kidney(1)											61.0	61.0	61.0					1																	86252141		1818	4079	5897	SO:0001583	missense	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3955A>T	1.37:g.86252141T>A	ENSP00000359603:p.Ile1319Phe	Somatic		WXS	Illumina GAIIx	Phase_I	C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	T	10.72	1.428521	0.25726	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.93307	-3.2;-3.2	5.25	1.47	0.22746	.	0.527792	0.14383	N	0.323003	T	0.81908	0.4922	L	0.45285	1.41	0.25411	N	0.988351	B;B	0.24186	0.099;0.012	B;B	0.27262	0.078;0.019	T	0.72792	-0.4186	10	0.45353	T	0.12	.	8.6757	0.34179	0.0:0.2904:0.0:0.7096	.	1319;1319	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	F	1319	ENSP00000359603:I1319F;ENSP00000392531:I1319F	ENSP00000359603:I1319F	I	-	1	0	COL24A1	86024729	0.999000	0.42202	0.989000	0.46669	0.991000	0.79684	1.022000	0.30052	-0.004000	0.14419	0.377000	0.23210	ATC		0.493	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4		NM_152890	
CPZ	8532	hgsc.bcm.edu;ucsc.edu	37	4	8613867	8613867	+	Silent	SNP	G	G	A	rs2302573	byFrequency	TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr4:8613867G>A	ENST00000360986.4	+	8	1515	c.1341G>A	c.(1339-1341)gcG>gcA	p.A447A	CPZ_ENST00000382480.2_Silent_p.A310A|CPZ_ENST00000315782.6_Silent_p.A436A|CPZ_ENST00000429646.2_Silent_p.A55A	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	447					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.A447A(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCAACGGGGCGGACTGGTACA	0.652													G|||	408	0.0814696	0.0545	0.0086	5008	,	,		8298	0.2669		0.005	False		,,,				2504	0.0573																1	Substitution - coding silent(1)	stomach(1)						G	,,	282,4120	153.7+/-187.2	7,268,1926	52.0	48.0	49.0		1341,930,1308	-7.3	0.8	4	dbSNP_100	49	29,8569	19.8+/-62.0	0,29,4270	no	coding-synonymous,coding-synonymous,coding-synonymous	CPZ	NM_001014447.2,NM_001014448.2,NM_003652.3	,,	7,297,6196	AA,AG,GG		0.3373,6.4062,2.3923	,,	447/653,310/516,436/642	8613867	311,12689	2201	4299	6500	SO:0001819	synonymous_variant	8532			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1341G>A	4.37:g.8613867G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O00520|Q96MX2	Silent	SNP	ENST00000360986.4	37	CCDS33953.1																																																																																				0.652	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4		NM_003652	
CXCR4	7852	broad.mit.edu;ucsc.edu	37	2	136872770	136872770	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr2:136872770A>G	ENST00000241393.3	-	2	832	c.728T>C	c.(727-729)aTc>aCc	p.I243T	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000409817.1_Missense_Mutation_p.I247T	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	243				VIL -> IIP (in Ref. 12; AAK29630). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)	p.I247T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	CAGGATGAGGATGACTGTGGT	0.512																																																	1	Substitution - Missense(1)	kidney(1)											179.0	165.0	170.0					2																	136872770		2203	4300	6503	SO:0001583	missense	7852			AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	2561	protein-coding gene	gene with protein product		162643	"""chemokine (C-X-C motif), receptor 4 (fusin)"""			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.728T>C	2.37:g.136872770A>G	ENSP00000241393:p.Ile243Thr	Somatic		WXS	Illumina GAIIx	Phase_I	B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Missense_Mutation	SNP	ENST00000241393.3	37	CCDS46420.1	.	.	.	.	.	.	.	.	.	.	A	14.91	2.677634	0.47886	.	.	ENSG00000121966	ENST00000409817;ENST00000241393;ENST00000537957	T;T	0.39406	1.08;1.08	6.17	6.17	0.99709	GPCR, rhodopsin-like superfamily (1);	0.044114	0.85682	D	0.000000	T	0.53254	0.1785	L	0.41236	1.265	0.80722	D	1	P;D	0.69078	0.593;0.997	P;D	0.68192	0.821;0.956	T	0.41431	-0.9509	10	0.14252	T	0.57	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	243;247	P61073;P61073-2	CXCR4_HUMAN;.	T	247;243;113	ENSP00000386884:I247T;ENSP00000241393:I243T	ENSP00000241393:I243T	I	-	2	0	CXCR4	136589240	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.576000	0.82467	2.371000	0.80710	0.533000	0.62120	ATC		0.512	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1			
DDX12P	440081	broad.mit.edu;ucsc.edu	37	12	9574042	9574042	+	IGR	SNP	C	C	A	rs7298124	byFrequency	TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr12:9574042C>A								RP13-735L24.1 (23829 upstream) : SNORA75 (23611 downstream)														p.S665I(1)									GGAGACCCCGCTGCAGATGAC	0.592													C|||	2372	0.473642	0.298	0.572	5008	,	,		-128	0.5655		0.5308	False		,,,				2504	0.4877																1	Substitution - Missense(1)	kidney(1)						C		445,939		66,313,313	70.0	67.0	68.0			0.5	0.4	12	dbSNP_116	68	1684,1498		447,790,354	no	intergenic				513,1103,667	AA,AC,CC		47.0773,32.1532,46.6272			9574042	2129,2437	692	1591	2283	SO:0001628	intergenic_variant	0																															12.37:g.9574042C>A		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP		37																																																																																				0	0.592									
DPCR1	135656	hgsc.bcm.edu	37	6	30918543	30918545	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	TTG	TTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr6:30918543_30918545delTTG	ENST00000462446.1	+	2	2330_2332	c.2302_2304delTTG	c.(2302-2304)ttgdel	p.L768del	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	341						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						CAGGACTCCATTGGCCAATGAGA	0.488																																																	0																																										SO:0001651	inframe_deletion	135656			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.2302_2304delTTG	6.37:g.30918543_30918545delTTG	ENSP00000417182:p.Leu768del	Somatic		WXS	Illumina HiSeq	Phase_I	C9IZC0|Q658M7|Q8WYN2	In_Frame_Del	DEL	ENST00000462446.1	37	CCDS4692.2																																																																																				0.488	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3		NM_080870	
DYNC2H1	79659	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	103024178	103024178	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr11:103024178G>T	ENST00000375735.2	+	22	3387	c.3243G>T	c.(3241-3243)aaG>aaT	p.K1081N	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.K1081N|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	1081	Stem. {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)		AAAGTGCAAAGTTAATAAAAG	0.303																																																	0													35.0	35.0	35.0					11																	103024178		1792	4042	5834	SO:0001583	missense	79659			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.3243G>T	11.37:g.103024178G>T	ENSP00000364887:p.Lys1081Asn	Somatic		WXS	Illumina HiSeq	Phase_I	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.263456	0.39995	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.28895	1.59;1.59	5.61	5.61	0.85477	.	0.287880	0.25860	U	0.027827	T	0.24774	0.0601	N	0.25647	0.755	0.39907	D	0.973975	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.08764	-1.0706	10	0.15499	T	0.54	.	19.6978	0.96034	0.0:0.0:1.0:0.0	.	1081;1081	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	N	1081	ENSP00000364887:K1081N;ENSP00000381167:K1081N	ENSP00000364887:K1081N	K	+	3	2	DYNC2H1	102529388	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	3.658000	0.54482	2.664000	0.90586	0.632000	0.83419	AAG		0.303	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1		XM_370652	
EGFLAM	133584	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	38427225	38427225	+	Missense_Mutation	SNP	G	G	A	rs370857999		TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr5:38427225G>A	ENST00000354891.3	+	14	2271	c.1925G>A	c.(1924-1926)cGg>cAg	p.R642Q	EGFLAM_ENST00000322350.5_Missense_Mutation_p.R642Q|EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000336740.6_Missense_Mutation_p.R408Q|EGFLAM_ENST00000397202.2_Missense_Mutation_p.R8Q	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	642	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.R642Q(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ATCACATTTCGGCCAGACTCA	0.522																																					Colon(62;485 1295 3347 17454)												2	Substitution - Missense(2)	kidney(2)						G	GLN/ARG,GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	148.0	144.0	145.0		1925,1925,1223	5.8	1.0	5		145	0,8600		0,0,4300	no	missense,missense,missense	EGFLAM	NM_001205301.1,NM_152403.3,NM_182798.2	43,43,43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	642/1018,642/1010,408/776	38427225	2,13004	2203	4300	6503	SO:0001583	missense	133584			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1925G>A	5.37:g.38427225G>A	ENSP00000346964:p.Arg642Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386979	0.42308	4.54E-4	0.0	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580	T;T;T;D	0.83914	-0.8;-0.8;-0.8;-1.78	5.76	5.76	0.90799	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.180613	0.49916	D	0.000123	T	0.81683	0.4874	L	0.54323	1.7	0.80722	D	1	P;P;P	0.47350	0.699;0.894;0.882	B;B;B	0.40410	0.144;0.328;0.15	T	0.82311	-0.0520	10	0.45353	T	0.12	-1.5199	19.9596	0.97236	0.0:0.0:1.0:0.0	.	408;642;642	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	Q	642;642;408;8;408	ENSP00000346964:R642Q;ENSP00000313084:R642Q;ENSP00000337607:R408Q;ENSP00000380385:R8Q	ENSP00000313084:R642Q	R	+	2	0	EGFLAM	38462982	1.000000	0.71417	0.995000	0.50966	0.446000	0.32137	3.009000	0.49552	2.726000	0.93360	0.655000	0.94253	CGG		0.522	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1		NM_152403	
EME1	146956	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48456585	48456585	+	Splice_Site	SNP	G	G	C			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr17:48456585G>C	ENST00000338165.4	+	6	1312	c.1230G>C	c.(1228-1230)gaG>gaC	p.E410D	EME1_ENST00000511648.2_Splice_Site_p.E423D|EME1_ENST00000393271.2_Splice_Site_p.E423D	NM_152463.2	NP_689676.2	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	410					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.E410D(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			ACGCTGAAGAGGTAAGAACGT	0.502								Direct reversal of damage;Homologous recombination																																									1	Substitution - Missense(1)	kidney(1)											128.0	131.0	130.0					17																	48456585		2203	4300	6503	SO:0001630	splice_region_variant	146956			BC016470	CCDS11565.1, CCDS54141.1	17q21.33	2013-07-03	2013-07-03			ENSG00000154920			24965	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae)"""	610885	"""essential meiotic endonuclease 1 homolog 1 (S. pombe)"""			12721304	Standard	NM_001166131		Approved	FLJ31364, MMS4L, SLX2A	uc010dbp.2	Q96AY2		ENST00000338165.4:c.1230+1G>C	17.37:g.48456585G>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q96N62	Missense_Mutation	SNP	ENST00000338165.4	37	CCDS11565.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.72|11.72	1.723821|1.723821	0.30593|0.30593	.|.	.|.	ENSG00000154920|ENSG00000154920	ENST00000338165;ENST00000393271;ENST00000511648|ENST00000510246	T;T;T|.	0.22134|.	1.97;1.97;1.97|.	5.47|5.47	5.47|5.47	0.80525|0.80525	ERCC4 domain (2);|.	0.667620|.	0.14916|.	N|.	0.290948|.	T|T	0.65933|0.65933	0.2739|0.2739	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	B;B|.	0.25312|.	0.047;0.123|.	B;B|.	0.30029|.	0.03;0.11|.	T|T	0.64732|0.64732	-0.6338|-0.6338	10|5	0.72032|.	D|.	0.01|.	-27.2196|-27.2196	10.7831|10.7831	0.46390|0.46390	0.0873:0.0:0.9127:0.0|0.0873:0.0:0.9127:0.0	.|.	423;410|.	Q96AY2-2;Q96AY2|.	.;EME1_HUMAN|.	D|R	410;423;423|222	ENSP00000339897:E410D;ENSP00000376952:E423D;ENSP00000421700:E423D|.	ENSP00000339897:E410D|.	E|G	+|+	3|1	2|0	EME1|EME1	45811584|45811584	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.389000|0.389000	0.30415|0.30415	2.429000|2.429000	0.44758|0.44758	2.740000|2.740000	0.93945|0.93945	0.650000|0.650000	0.86243|0.86243	GAG|GGC		0.502	EME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367118.3		NM_152463	Missense_Mutation
EPHA1	2041	broad.mit.edu;hgsc.bcm.edu	37	7	143097036	143097036	+	Silent	SNP	G	G	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr7:143097036G>A	ENST00000275815.3	-	4	629	c.543C>T	c.(541-543)ctC>ctT	p.L181L		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	181	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)	p.L181L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AAGCGAGGTAGAGGCCACGGC	0.622																																																	2	Substitution - coding silent(2)	kidney(2)											31.0	32.0	32.0					7																	143097036		2203	4299	6502	SO:0001819	synonymous_variant	2041			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.543C>T	7.37:g.143097036G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A1L3V3|B5A966|B5A967|Q15405	Silent	SNP	ENST00000275815.3	37	CCDS5884.1																																																																																				0.622	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			
ERCC4	2072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	14041845	14041845	+	Missense_Mutation	SNP	C	C	G	rs369736388		TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr16:14041845C>G	ENST00000311895.7	+	11	2401	c.2392C>G	c.(2392-2394)Cta>Gta	p.L798V		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	798	Nuclease.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.L798V(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CTTCCCCAGACTACGGATTCT	0.522			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				C|||	1	0.000199681	0.0008	0.0	5008	,	,		20091	0.0		0.0	False		,,,				2504	0.0						yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""		E	1	Substitution - Missense(1)	kidney(1)						C	VAL/LEU	1,4393	2.1+/-5.4	0,1,2196	85.0	82.0	83.0		2392	4.2	0.0	16		83	0,8600		0,0,4300	no	missense	ERCC4	NM_005236.2	32	0,1,6496	GG,GC,CC		0.0,0.0228,0.0077	possibly-damaging	798/917	14041845	1,12993	2197	4300	6497	SO:0001583	missense	2072	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.2392C>G	16.37:g.14041845C>G	ENSP00000310520:p.Leu798Val	Somatic		WXS	Illumina HiSeq	Phase_I	A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678948	0.68042	2.28E-4	0.0	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.19105	2.17	6.16	4.2	0.49525	DNA repair nuclease, XPF-type/Helicase (1);Restriction endonuclease, type II-like (1);	0.000000	0.85682	D	0.000000	T	0.47078	0.1426	M	0.82193	2.58	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.48055	-0.9068	10	0.66056	D	0.02	-21.7266	10.2967	0.43629	0.0:0.7843:0.0:0.2157	.	798	Q92889	XPF_HUMAN	V	798;786	ENSP00000310520:L798V	ENSP00000310520:L798V	L	+	1	2	ERCC4	13949346	0.997000	0.39634	0.049000	0.19019	0.957000	0.61999	3.563000	0.53784	0.914000	0.36822	0.650000	0.86243	CTA		0.522	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2		NM_005236	
FBRS	64319	broad.mit.edu;hgsc.bcm.edu	37	16	30679940	30679940	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr16:30679940G>A	ENST00000287468.5	+	10	837	c.574G>A	c.(574-576)Gga>Aga	p.G192R	FBRS_ENST00000395073.2_Missense_Mutation_p.G104R|FBRS_ENST00000356166.6_Missense_Mutation_p.G712R|FBRS_ENST00000568722.1_Missense_Mutation_p.G104R	NM_001105079.1	NP_001098549.1	Q9HAH7	FBRS_HUMAN	fibrosin	192								p.G104R(1)|p.G192R(1)		ovary(1)	1			Colorectal(24;0.103)			CGGGGCCTTTGGAGGCCTGGG	0.672																																																	2	Substitution - Missense(2)	kidney(2)											61.0	65.0	64.0					16																	30679940		2197	4300	6497	SO:0001583	missense	64319			AK021680		16p11.2	2008-02-05	2007-04-18	2007-04-18	ENSG00000156860	ENSG00000156860			20442	protein-coding gene	gene with protein product		608601	"""fibrosin 1"""	FBS1		7892239, 9809749	Standard	NM_001105079		Approved	FBS, FLJ11618	uc002dzd.4	Q9HAH7	OTTHUMG00000132390	ENST00000287468.5:c.574G>A	16.37:g.30679940G>A	ENSP00000287468:p.Gly192Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B4DP86|Q96CI9|Q9H9X4	Missense_Mutation	SNP	ENST00000287468.5	37		.	.	.	.	.	.	.	.	.	.	G	31	5.102176	0.94245	.	.	ENSG00000156860	ENST00000356166;ENST00000287468;ENST00000395073	T	0.71341	-0.56	5.05	5.05	0.67936	.	0.151100	0.41500	D	0.000863	T	0.81574	0.4851	L	0.53617	1.68	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.83599	0.0127	10	0.87932	D	0	-2.2128	17.1812	0.86855	0.0:0.0:1.0:0.0	.	192	Q9HAH7	FBRS_HUMAN	R	712;192;104	ENSP00000348489:G712R	ENSP00000287468:G192R	G	+	1	0	FBRS	30587441	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.118000	0.89577	2.348000	0.79779	0.655000	0.94253	GGA		0.672	FBRS-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_022452	
FOXRED2	80020	broad.mit.edu;ucsc.edu	37	22	36894120	36894120	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr22:36894120T>C	ENST00000397224.4	-	6	1393	c.1300A>G	c.(1300-1302)Agc>Ggc	p.S434G	FOXRED2_ENST00000366463.3_5'UTR|FOXRED2_ENST00000216187.6_Missense_Mutation_p.S434G|FOXRED2_ENST00000397223.4_Missense_Mutation_p.S434G	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	434					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)	p.S434G(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ACGATGGAGCTGGTCAGCTGT	0.632																																																	1	Substitution - Missense(1)	kidney(1)											78.0	71.0	74.0					22																	36894120		2203	4300	6503	SO:0001583	missense	80020			BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.1300A>G	22.37:g.36894120T>C	ENSP00000380401:p.Ser434Gly	Somatic		WXS	Illumina GAIIx	Phase_I	B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	ENST00000397224.4	37	CCDS13929.1	.	.	.	.	.	.	.	.	.	.	T	9.266	1.044537	0.19748	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000397223	T;T;T	0.15487	2.42;2.42;2.42	5.07	1.82	0.25136	.	0.533270	0.22002	N	0.065995	T	0.14570	0.0352	L	0.52364	1.645	0.22468	N	0.999074	B	0.22800	0.075	B	0.24701	0.055	T	0.29274	-1.0017	10	0.22706	T	0.39	-5.708	8.4675	0.32964	0.0:0.2249:0.0:0.7751	.	434	Q8IWF2	FXRD2_HUMAN	G	434	ENSP00000380401:S434G;ENSP00000216187:S434G;ENSP00000380400:S434G	ENSP00000216187:S434G	S	-	1	0	FOXRED2	35224066	0.982000	0.34865	0.064000	0.19789	0.852000	0.48524	2.339000	0.43965	0.015000	0.14971	0.529000	0.55759	AGC		0.632	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2		NM_024955	
G2E3	55632	hgsc.bcm.edu	37	14	31074772	31074772	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr14:31074772delA	ENST00000206595.6	+	11	1226	c.1072delA	c.(1072-1074)aaafs	p.K360fs	G2E3_ENST00000438909.2_Frame_Shift_Del_p.K314fs|G2E3_ENST00000553504.1_Frame_Shift_Del_p.K390fs|G2E3_ENST00000544007.1_Intron	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	360					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATTCCAAATTAAAAAAAAAAC	0.274																																																	0										33,4205		0,33,2086	26.0	28.0	27.0			3.2	1.0	14		27	38,8192		0,38,4077	no	frameshift	G2E3	NM_017769.3		0,71,6163	A1A1,A1R,RR		0.4617,0.7787,0.5695			31074772	71,12397	2193	4291	6484	SO:0001589	frameshift_variant	55632			AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.1072delA	14.37:g.31074772delA	ENSP00000206595:p.Lys360fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Frame_Shift_Del	DEL	ENST00000206595.6	37	CCDS9638.1																																																																																				0.274	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2		NM_017769	
GATA4	2626	broad.mit.edu;ucsc.edu	37	8	11615820	11615820	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr8:11615820A>C	ENST00000335135.4	+	7	1723	c.1165A>C	c.(1165-1167)Atg>Ctg	p.M389L	GATA4_ENST00000532059.1_Missense_Mutation_p.M390L|GATA4_ENST00000528712.1_Missense_Mutation_p.M183L	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	389					atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.M389L(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		AGTCAGTGCGATGTCTGGCCA	0.622																																																	1	Substitution - Missense(1)	kidney(1)											149.0	130.0	137.0					8																	11615820		2203	4300	6503	SO:0001583	missense	2626			AK097060	CCDS5983.1	8p23.1-p22	2013-01-25	2001-11-28		ENSG00000136574	ENSG00000136574		"""GATA zinc finger domain containing"""	4173	protein-coding gene	gene with protein product		600576	"""GATA-binding protein 4"""			7665171	Standard	NM_002052		Approved		uc003wuc.2	P43694	OTTHUMG00000090800	ENST00000335135.4:c.1165A>C	8.37:g.11615820A>C	ENSP00000334458:p.Met389Leu	Somatic		WXS	Illumina GAIIx	Phase_I	B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8	Missense_Mutation	SNP	ENST00000335135.4	37	CCDS5983.1	.	.	.	.	.	.	.	.	.	.	A	12.51	1.959019	0.34565	.	.	ENSG00000136574	ENST00000528712;ENST00000335135;ENST00000259090;ENST00000532059	D;D;D	0.98777	-5.13;-4.57;-4.57	5.61	4.47	0.54385	.	0.458483	0.25148	N	0.032776	D	0.96586	0.8886	M	0.64404	1.975	0.35800	D	0.823068	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	D	0.94739	0.7917	10	0.17369	T	0.5	-19.6337	8.1339	0.31043	0.8928:0.0:0.1072:0.0	.	390;389	B7ZKZ4;P43694	.;GATA4_HUMAN	L	183;389;388;390	ENSP00000435043:M183L;ENSP00000334458:M389L;ENSP00000435712:M390L	ENSP00000259090:M388L	M	+	1	0	GATA4	11653229	0.995000	0.38212	0.811000	0.32455	0.861000	0.49209	3.198000	0.51035	0.968000	0.38212	0.460000	0.39030	ATG		0.622	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207587.2		NM_002052	
GIGYF1	64599	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	100281055	100281055	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr7:100281055T>A	ENST00000275732.5	-	18	3274	c.2065A>T	c.(2065-2067)Aga>Tga	p.R689*	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	689					insulin-like growth factor receptor signaling pathway (GO:0048009)			p.R689*(1)|p.R408*(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCCACTTCTCTGCGCTCCTGG	0.667																																																	2	Substitution - Nonsense(2)	kidney(2)											111.0	124.0	120.0					7																	100281055		2203	4300	6503	SO:0001587	stop_gained	64599			AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.2065A>T	7.37:g.100281055T>A	ENSP00000275732:p.Arg689*	Somatic		WXS	Illumina HiSeq	Phase_I	Q6Y7W7|Q8WZ38	Nonsense_Mutation	SNP	ENST00000275732.5	37	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	48	14.768981	0.99809	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	.	.	.	3.81	3.81	0.43845	.	0.076883	0.50627	D	0.000109	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.7484	7.1968	0.25858	0.0:0.0:0.2281:0.7719	.	.	.	.	X	408;689	.	ENSP00000275732:R689X	R	-	1	2	GIGYF1	100118991	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	0.762000	0.26503	1.605000	0.50152	0.260000	0.18958	AGA		0.667	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2		NM_022574	
GLP2R	9340	hgsc.bcm.edu	37	17	9737136	9737136	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr17:9737136C>T	ENST00000262441.5	+	2	715	c.202C>T	c.(202-204)Ctc>Ttc	p.L68F	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	68					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	TACAGGATCCCTCCTTGAGGA	0.483																																																	0													137.0	122.0	127.0					17																	9737136		2203	4300	6503	SO:0001583	missense	9340			AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.202C>T	17.37:g.9737136C>T	ENSP00000262441:p.Leu68Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166523	0.78339	.	.	ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441	T;T	0.55234	0.56;0.53	5.86	5.86	0.93980	.	0.000000	0.35903	N	0.002919	T	0.61565	0.2357	L	0.36672	1.1	0.37286	D	0.90807	D	0.65815	0.995	P	0.62382	0.901	T	0.66023	-0.6026	10	0.59425	D	0.04	.	15.6865	0.77415	0.0:1.0:0.0:0.0	.	68	O95838	GLP2R_HUMAN	F	68;43;68	ENSP00000303605:L43F;ENSP00000262441:L68F	ENSP00000262441:L68F	L	+	1	0	GLP2R	9677861	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	3.839000	0.55835	2.781000	0.95711	0.650000	0.86243	CTC		0.483	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			
GOT1	2805	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	101165548	101165549	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	GA	GA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr10:101165548_101165549delGA	ENST00000370508.5	-	5	633_634	c.606_607delTC	c.(604-609)actccgfs	p.P203fs	GOT1_ENST00000543866.1_Frame_Shift_Del_p.P182fs	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	203					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	CACTGCTCCGGAGTTGGGTCAA	0.45																																					Melanoma(173;770 3544 21601)												0																																										SO:0001589	frameshift_variant	2805			M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"""aspartate aminotransferase 1"", ""aspartate transaminase 1"""	138180	"""glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"""			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.606_607delTC	10.37:g.101165548_101165549delGA	ENSP00000359539:p.Pro203fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2R6R7|B7Z7E9|Q5VW80	Frame_Shift_Del	DEL	ENST00000370508.5	37	CCDS7479.1																																																																																				0.450	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1		NM_002079	
HSPA4L	22824	broad.mit.edu;ucsc.edu	37	4	128732596	128732596	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr4:128732596C>A	ENST00000296464.4	+	12	1794	c.1383C>A	c.(1381-1383)agC>agA	p.S461R	HSPA4L_ENST00000505726.1_Missense_Mutation_p.S435R|HSPA4L_ENST00000439123.2_Missense_Mutation_p.S492R|HSPA4L_ENST00000508776.1_Missense_Mutation_p.S461R	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	461					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.S461R(1)		central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CTTAAGGGAGCTTCACTATTC	0.368																																																	1	Substitution - Missense(1)	kidney(1)											112.0	109.0	110.0					4																	128732596		2203	4300	6503	SO:0001583	missense	22824			AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.1383C>A	4.37:g.128732596C>A	ENSP00000296464:p.Ser461Arg	Somatic		WXS	Illumina GAIIx	Phase_I	A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	ENST00000296464.4	37	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	C	1.223	-0.626478	0.03610	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000508549;ENST00000505726	T;T;T;T;T	0.04194	3.68;3.68;3.68;3.68;3.68	4.53	4.53	0.55603	.	0.399721	0.28977	N	0.013523	T	0.01353	0.0044	N	0.01140	-0.99	0.34504	D	0.706368	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.36359	-0.9751	10	0.02654	T	1	.	5.3619	0.16093	0.0:0.752:0.0:0.248	.	435;461;461	E9PDE8;A2ICT2;O95757	.;.;HS74L_HUMAN	R	461;492;461;420;435	ENSP00000422482:S461R;ENSP00000393926:S492R;ENSP00000296464:S461R;ENSP00000427305:S420R;ENSP00000425645:S435R	ENSP00000296464:S461R	S	+	3	2	HSPA4L	128952046	0.985000	0.35326	1.000000	0.80357	0.992000	0.81027	0.504000	0.22626	2.311000	0.77944	0.650000	0.86243	AGC		0.368	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3		NM_014278	
KIF3B	9371	hgsc.bcm.edu;ucsc.edu	37	20	30915461	30915461	+	Silent	SNP	T	T	C	rs1129012	byFrequency	TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr20:30915461T>C	ENST00000375712.3	+	7	2132	c.1965T>C	c.(1963-1965)taT>taC	p.Y655Y	KIF3B_ENST00000418717.2_Silent_p.Y281Y	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	655	Globular.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)	p.Y655Y(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGGCCCGATATAGGGTGAGAA	0.468													T|||	1011	0.201877	0.3313	0.1441	5008	,	,		17700	0.2222		0.1859	False		,,,				2504	0.0634																1	Substitution - coding silent(1)	stomach(1)						T		1346,3060	448.3+/-348.6	204,938,1061	93.0	81.0	85.0		1965	-4.2	0.4	20	dbSNP_86	85	1471,7129	281.7+/-295.2	136,1199,2965	no	coding-synonymous	KIF3B	NM_004798.3		340,2137,4026	CC,CT,TT		17.1047,30.5493,21.6592		655/748	30915461	2817,10189	2203	4300	6503	SO:0001819	synonymous_variant	9371			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1965T>C	20.37:g.30915461T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B2RMP4|B4DSR5|E1P5M5	Silent	SNP	ENST00000375712.3	37	CCDS13200.1																																																																																				0.468	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1		NM_004798	
LAIR2	3904	broad.mit.edu;ucsc.edu	37	19	55019389	55019389	+	Silent	SNP	G	G	T			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr19:55019389G>T	ENST00000301202.2	+	3	476	c.354G>T	c.(352-354)ctG>ctT	p.L118L	LAIR2_ENST00000351841.2_Silent_p.L118L	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	118						extracellular region (GO:0005576)		p.L118L(1)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		TCCTGGAGCTGCTGGTGAAAG	0.577																																																	1	Substitution - coding silent(1)	kidney(1)											80.0	84.0	83.0					19																	55019389		2203	4300	6503	SO:0001819	synonymous_variant	3904			AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6478	protein-coding gene	gene with protein product		602993	"""leukocyte-associated Ig-like receptor 2"""			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.354G>T	19.37:g.55019389G>T		Somatic		WXS	Illumina GAIIx	Phase_I	Q6PEZ4	Silent	SNP	ENST00000301202.2	37	CCDS12897.1																																																																																				0.577	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140801.1			
LEF1	51176	hgsc.bcm.edu	37	4	109084820	109084820	+	Silent	SNP	G	G	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr4:109084820G>A	ENST00000265165.1	-	3	972	c.318C>T	c.(316-318)ccC>ccT	p.P106P	LEF1_ENST00000438313.2_Silent_p.P106P|LEF1_ENST00000512172.1_Silent_p.P38P|LEF1_ENST00000510624.1_Silent_p.P38P|LEF1_ENST00000379951.2_Silent_p.P106P	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	106	Pro-rich.				alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		TCGAGTAGGAGGGTCCCTTGT	0.423																																																	0													138.0	125.0	129.0					4																	109084820		2203	4300	6503	SO:0001819	synonymous_variant	51176				CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.318C>T	4.37:g.109084820G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Silent	SNP	ENST00000265165.1	37	CCDS3679.1																																																																																				0.423	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2			
LILRB3	11025	broad.mit.edu;hgsc.bcm.edu	37	19	54721109	54721109	+	Splice_Site	SNP	C	C	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr19:54721109C>A	ENST00000391750.1	-	14	1886		c.e14-1		LILRB3_ENST00000424807.1_Splice_Site|LILRB3_ENST00000346401.6_Splice_Site|LILRB3_ENST00000469273.1_Splice_Site|LILRA6_ENST00000391735.3_Splice_Site|LILRA6_ENST00000440558.2_Splice_Site|LILRB3_ENST00000407860.2_Splice_Site|LILRA6_ENST00000270464.5_Splice_Site|LILRB3_ENST00000245620.9_Splice_Site|LILRA6_ENST00000419410.2_Splice_Site			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.?(1)		endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATGCAGCAGCCTGCAGCGGGG	0.632																																																	1	Unknown(1)	kidney(1)											63.0	69.0	67.0					19																	54721109		2203	4298	6501	SO:0001630	splice_region_variant	11025			U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1750-1G>T	19.37:g.54721109C>A		Somatic		WXS	Illumina HiSeq	Phase_I	C9J1P3|C9JIP1|O15471|Q86U49	Splice_Site	SNP	ENST00000391750.1	37	CCDS33105.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.320989	0.23994	.	.	ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000244482;ENSG00000244482;ENSG00000244482	ENST00000391750;ENST00000424807;ENST00000346401;ENST00000245620;ENST00000407860;ENST00000440558;ENST00000270464;ENST00000419410	.	.	.	3.13	3.13	0.36017	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1877	0.43009	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LILRB3;LILRA6	59412921	0.753000	0.28349	0.549000	0.28204	0.139000	0.21198	2.859000	0.48364	2.115000	0.64714	0.472000	0.43445	.		0.632	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5		NM_006864	Intron
LRFN5	145581	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	42360818	42360818	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr14:42360818C>T	ENST00000298119.4	+	4	2940	c.1751C>T	c.(1750-1752)aCg>aTg	p.T584M	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	584						integral component of membrane (GO:0016021)		p.T584M(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGTAGTGTAACGCTGCCCCAG	0.453										HNSCC(30;0.082)																																							2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											108.0	94.0	99.0					14																	42360818		2203	4300	6503	SO:0001583	missense	145581			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1751C>T	14.37:g.42360818C>T	ENSP00000298119:p.Thr584Met	Somatic		WXS	Illumina HiSeq	Phase_I	B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	9.892	1.204457	0.22205	.	.	ENSG00000165379	ENST00000298119	T	0.47528	0.84	5.95	5.95	0.96441	.	0.278342	0.27544	N	0.018891	T	0.32346	0.0826	N	0.08118	0	0.46185	D	0.998912	B	0.19200	0.034	B	0.11329	0.006	T	0.09596	-1.0667	10	0.49607	T	0.09	.	17.875	0.88822	0.0:1.0:0.0:0.0	.	584	Q96NI6	LRFN5_HUMAN	M	584	ENSP00000298119:T584M	ENSP00000298119:T584M	T	+	2	0	LRFN5	41430568	0.000000	0.05858	0.107000	0.21349	0.670000	0.39368	0.787000	0.26858	2.821000	0.97095	0.650000	0.86243	ACG		0.453	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1		NM_152447	
LRRIQ3	127255	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	74540469	74540469	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr1:74540469T>C	ENST00000395089.1	-	5	872	c.873A>G	c.(871-873)atA>atG	p.I291M	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.I291M			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	291								p.I291M(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CAGGATAATATATATTCTGTG	0.264																																																	1	Substitution - Missense(1)	kidney(1)											37.0	33.0	34.0					1																	74540469		1767	4017	5784	SO:0001583	missense	127255			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.873A>G	1.37:g.74540469T>C	ENSP00000378524:p.Ile291Met	Somatic		WXS	Illumina HiSeq	Phase_I	A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	T	3.440	-0.114259	0.06881	.	.	ENSG00000162620	ENST00000417067;ENST00000395089;ENST00000354431	T;T	0.08720	3.06;3.06	4.51	-9.02	0.00741	.	0.366248	0.19801	N	0.105753	T	0.01287	0.0042	L	0.36672	1.1	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.32079	-0.9920	10	0.59425	D	0.04	.	4.2099	0.10507	0.231:0.4802:0.1176:0.1712	.	291	A6PVS8	LRIQ3_HUMAN	M	2;291;291	ENSP00000378524:I291M;ENSP00000346414:I291M	ENSP00000346414:I291M	I	-	3	3	LRRIQ3	74313057	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.757000	0.04772	-2.123000	0.00823	-2.150000	0.00334	ATA		0.264	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1		NM_145258	
LY6G6F	259215	broad.mit.edu;hgsc.bcm.edu	37	6	31675443	31675444	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr6:31675443_31675444insA	ENST00000375832.4	+	2	283_284	c.261_262insA	c.(262-264)aacfs	p.N88fs	MEGT1_ENST00000503322.1_Frame_Shift_Ins_p.N88fs|XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000556581.1_Frame_Shift_Ins_p.N88fs	NM_001003693.1	NP_001003693.1	Q5SQ64	LY66F_HUMAN	lymphocyte antigen 6 complex, locus G6F	88	Ig-like V-type.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						GACTGCTGGGGAACTATTCTTT	0.584																																																	0																																										SO:0001589	frameshift_variant	259215				CCDS34403.1	6p21	2013-01-11	2008-05-21	2008-05-21		ENSG00000204424		"""Immunoglobulin superfamily / V-set domain containing"""	13933	protein-coding gene	gene with protein product		611404	"""chromosome 6 open reading frame 21"""	LY6G6D, C6orf21		12852788	Standard	NM_001003693		Approved	G6f, NG32	uc003nwa.1	Q5SQ64	OTTHUMG00000031252	ENST00000375832.4:c.263dupA	6.37:g.31675445_31675445dupA	ENSP00000364992:p.Asn88fs	Somatic		WXS	Illumina HiSeq	Phase_I	B0UXB7|O95869|Q7Z5H2|Q96QC7|Q9NZJ1	Frame_Shift_Ins	INS	ENST00000375832.4	37	CCDS34403.1																																																																																				0.584	LY6G6F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076532.2		NM_001003693	
MBD1	4152	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	47803544	47803544	+	Silent	SNP	A	A	C			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr18:47803544A>C	ENST00000591416.1	-	3	572	c.141T>G	c.(139-141)gtT>gtG	p.V47V	MBD1_ENST00000382948.5_Silent_p.V47V|MBD1_ENST00000591535.1_Silent_p.V47V|MBD1_ENST00000588937.1_Silent_p.V47V|MBD1_ENST00000398493.1_Silent_p.V47V|MBD1_ENST00000590208.1_Silent_p.V47V|MBD1_ENST00000587605.1_Silent_p.V47V|MBD1_ENST00000436910.1_Silent_p.V47V|MBD1_ENST00000398495.2_Silent_p.V47V|MBD1_ENST00000424334.2_Silent_p.V73V|MBD1_ENST00000457839.2_Silent_p.V47V|MBD1_ENST00000585672.1_Silent_p.V47V|MBD1_ENST00000269471.5_Silent_p.V47V|MBD1_ENST00000353909.3_Silent_p.V47V|MBD1_ENST00000339998.6_Silent_p.V47V|MBD1_ENST00000269468.5_Silent_p.V47V|MBD1_ENST00000398488.1_Silent_p.V47V|MBD1_ENST00000349085.2_Silent_p.V47V|MBD1_ENST00000347968.3_Silent_p.V47V|MBD1_ENST00000585595.1_Silent_p.V47V			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	47	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.V47V(4)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						GAGTCAGCTCAACTTTGCTTC	0.527																																																	4	Substitution - coding silent(4)	kidney(4)											143.0	122.0	129.0					18																	47803544		2203	4300	6503	SO:0001819	synonymous_variant	4152			Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.141T>G	18.37:g.47803544A>C		Somatic		WXS	Illumina HiSeq	Phase_I	A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Silent	SNP	ENST00000591416.1	37	CCDS11943.1																																																																																				0.527	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3		NM_015846	
MGAT4C	25834	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	86383258	86383258	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr12:86383258G>A	ENST00000604798.1	-	6	1271	c.67C>T	c.(67-69)Cgt>Tgt	p.R23C	MGAT4C_ENST00000552808.2_Missense_Mutation_p.R23C|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R23C|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R23C|MGAT4C_ENST00000552435.2_Missense_Mutation_p.R23C|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R52C|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R23C			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	23					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.R23C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ACTGTAGAACGTTTTCTCAGG	0.323																																																	1	Substitution - Missense(1)	kidney(1)											82.0	72.0	76.0					12																	86383258		2202	4299	6501	SO:0001583	missense	25834				CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.67C>T	12.37:g.86383258G>A	ENSP00000474896:p.Arg23Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194687	0.78902	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225;ENST00000552435	T;T;T;T;T;T	0.52754	1.25;1.19;1.25;1.25;1.25;0.65	5.83	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.58004	0.2092	L	0.36672	1.1	0.58432	D	0.999997	D;D	0.89917	1.0;0.995	D;P	0.83275	0.996;0.635	T	0.59418	-0.7458	10	0.56958	D	0.05	-5.7685	14.9338	0.70938	0.0:0.0:0.7211:0.2789	.	52;23	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	C	23;52;23;23;23;23;23;23	ENSP00000331664:R23C;ENSP00000376900:R52C;ENSP00000449022:R23C;ENSP00000446647:R23C;ENSP00000447253:R23C;ENSP00000449172:R23C	ENSP00000331664:R23C	R	-	1	0	MGAT4C	84907389	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.096000	0.57734	2.749000	0.94314	0.655000	0.94253	CGT		0.323	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2		NM_013244	
MS4A2	2206	hgsc.bcm.edu;ucsc.edu	37	11	59860282	59860283	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr11:59860282_59860283insT	ENST00000278888.3	+	4	441_442	c.339_340insT	c.(340-342)ttgfs	p.L114fs		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	114					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	TTTCTGGAATGTTGTCAATTAT	0.351																																																	0																																										SO:0001589	frameshift_variant	2206			M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"""Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"""	147138	"""IgE responsiveness (atopic)"", ""membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"""	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.341dupT	11.37:g.59860284_59860284dupT	ENSP00000278888:p.Leu114fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q54A81	Frame_Shift_Ins	INS	ENST00000278888.3	37	CCDS7980.1																																																																																				0.351	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393844.1			
MTOR	2475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11189845	11189845	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr1:11189845G>C	ENST00000361445.4	-	40	5740	c.5664C>G	c.(5662-5664)ttC>ttG	p.F1888L	MTOR_ENST00000495435.1_5'Flank|MTOR_ENST00000376838.1_Missense_Mutation_p.F93L	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1888	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.F1888L(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TGGAACGGAAGAAGCCCTGGA	0.522																																																	1	Substitution - Missense(1)	kidney(1)											177.0	141.0	153.0					1																	11189845		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5664C>G	1.37:g.11189845G>C	ENSP00000354558:p.Phe1888Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	32	5.180043	0.94846	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.75477	-0.94;-0.94	5.79	5.79	0.91817	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	D	0.89763	0.6809	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91858	0.5497	10	0.72032	D	0.01	-25.9408	13.26	0.60101	0.0721:0.0:0.9279:0.0	.	1888	P42345	MTOR_HUMAN	L	1888;93	ENSP00000354558:F1888L;ENSP00000366034:F93L	ENSP00000354558:F1888L	F	-	3	2	MTOR	11112432	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.225000	0.58600	2.733000	0.93635	0.655000	0.94253	TTC		0.522	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1		NM_004958	
NUDT4	11163	hgsc.bcm.edu;ucsc.edu	37	12	93789240	93789240	+	Intron	SNP	T	T	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr12:93789240T>A	ENST00000415493.2	+	3	637				NUDT4_ENST00000547014.1_Intron|NUDT4_ENST00000549992.1_Intron|NUDT4_ENST00000337179.5_Intron|NUDT4_ENST00000548662.1_Intron	NM_019094.4	NP_061967.3	Q9NZJ9	NUDT4_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 4						calcium-mediated signaling (GO:0019722)|cyclic nucleotide metabolic process (GO:0009187)|cyclic-nucleotide-mediated signaling (GO:0019935)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|regulation of RNA export from nucleus (GO:0046831)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)|snoRNA binding (GO:0030515)			endometrium(2)|kidney(1)|lung(2)	5						AGGTAAACATTTTATATTTCA	0.308																																																	0													45.0	49.0	48.0					12																	93789240		2201	4297	6498	SO:0001627	intron_variant	440672			AF067803	CCDS9044.1, CCDS44952.1, CCDS73504.1	12q21	2008-09-04			ENSG00000173598	ENSG00000173598		"""Nudix motif containing"""	8051	protein-coding gene	gene with protein product	"""diphosphoinositol polyphosphate phosphohydrolase type 2"""	609229				10777568, 11376937	Standard	XM_005268595		Approved	DIPP2, HDCMB47P, KIAA0487, DIPP2alpha, DIPP2beta	uc001tcm.3	Q9NZJ9	OTTHUMG00000170155	ENST00000415493.2:c.211-25T>A	12.37:g.93789240T>A		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z916|Q4AEJ6|Q53EZ2|Q68DD7|Q9NPC5|Q9NS30|Q9NZK0|Q9NZK1	RNA	SNP	ENST00000415493.2	37	CCDS44952.1																																																																																				0.308	NUDT4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407702.1		NM_019094	
OGDH	4967	hgsc.bcm.edu;ucsc.edu	37	7	44713430	44713434	+	Frame_Shift_Del	DEL	TGACC	TGACC	-	rs200177390		TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	TGACC	TGACC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr7:44713430_44713434delTGACC	ENST00000222673.5	+	6	720_724	c.678_682delTGACC	c.(676-684)aatgacctgfs	p.DL227fs	OGDH_ENST00000444676.1_Frame_Shift_Del_p.DL242fs|OGDH_ENST00000443864.2_Frame_Shift_Del_p.DL227fs|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000447398.1_Frame_Shift_Del_p.DL238fs|OGDH_ENST00000459672.1_3'UTR|OGDH_ENST00000543843.1_Frame_Shift_Del_p.DL178fs|OGDH_ENST00000449767.1_Frame_Shift_Del_p.DL223fs	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	227					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	TGTTCATCAATGACCTGGAGCAGTG	0.527																																																	0																																										SO:0001589	frameshift_variant	4967			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.678_682delTGACC	7.37:g.44713430_44713434delTGACC	ENSP00000222673:p.Asp227fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Frame_Shift_Del	DEL	ENST00000222673.5	37	CCDS34627.1																																																																																				0.527	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			
OR2L2	26246	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	248202228	248202228	+	Missense_Mutation	SNP	T	T	C	rs138507569		TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr1:248202228T>C	ENST00000366479.2	+	1	755	c.659T>C	c.(658-660)gTt>gCt	p.V220A	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V220A(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TATGGCCGGGTTCTCCTTGCT	0.512													t|||	1	0.000199681	0.0	0.0	5008	,	,		23308	0.0		0.001	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											262.0	232.0	242.0					1																	248202228		2203	4300	6503	SO:0001583	missense	26246			X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.659T>C	1.37:g.248202228T>C	ENSP00000355435:p.Val220Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	CCDS31103.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	16.52	3.145554	0.57044	.	.	ENSG00000203663	ENST00000366479	T	0.00193	8.58	1.9	1.9	0.25705	GPCR, rhodopsin-like superfamily (1);	0.316379	0.17285	U	0.179851	T	0.00384	0.0012	M	0.84082	2.675	0.09310	N	1	P	0.41265	0.744	P	0.49922	0.626	T	0.18650	-1.0330	10	0.87932	D	0	.	9.0367	0.36291	0.0:0.0:0.0:1.0	.	220	Q8NH16	OR2L2_HUMAN	A	220	ENSP00000355435:V220A	ENSP00000355435:V220A	V	+	2	0	OR2L2	246268851	0.716000	0.27956	0.007000	0.13788	0.103000	0.19146	5.176000	0.65026	0.746000	0.32786	0.163000	0.16589	GTT		0.512	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1		NM_001004686	
OR52J3	119679	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5068157	5068157	+	Silent	SNP	C	C	T	rs149427006		TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr11:5068157C>T	ENST00000380370.1	+	1	402	c.402C>T	c.(400-402)taC>taT	p.Y134Y		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y134Y(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACTACATTACGCAACCATCT	0.488																																																	1	Substitution - coding silent(1)	kidney(1)						C		0,4402		0,0,2201	182.0	118.0	140.0		402	2.0	0.1	11	dbSNP_134	140	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	OR52J3	NM_001001916.2		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		134/312	5068157	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	119679			AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"""GPCR / Class A : Olfactory receptors"""	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.402C>T	11.37:g.5068157C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6IFE4	Silent	SNP	ENST00000380370.1	37	CCDS31370.1																																																																																				0.488	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1		NM_001001916	
Unknown	0	hgsc.bcm.edu	37	11	124096257	124096257	+	IGR	SNP	C	C	T			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr11:124096257C>T								OR10D3 (39305 upstream) : OR8G1 (24165 downstream)																							GGGAAAGTGTCCTCTGTGTTT	0.463																																																	0													74.0	72.0	73.0					11																	124096257		1964	4168	6132	SO:0001628	intergenic_variant	26492																															11.37:g.124096257C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP		37																																																																																				0	0.463									
OR8B3	390271	broad.mit.edu;hgsc.bcm.edu	37	11	124266328	124266328	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr11:124266328A>T	ENST00000354597.3	-	1	936	c.920T>A	c.(919-921)aTt>aAt	p.I307N		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I307N(1)		kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TCTTCTCTGAATTTTAATCAG	0.328																																																	1	Substitution - Missense(1)	kidney(1)											47.0	50.0	49.0					11																	124266328		2200	4298	6498	SO:0001583	missense	390271			AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"""GPCR / Class A : Olfactory receptors"""	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.920T>A	11.37:g.124266328A>T	ENSP00000346611:p.Ile307Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IFQ8|Q8NGH1	Missense_Mutation	SNP	ENST00000354597.3	37	CCDS31709.1	.	.	.	.	.	.	.	.	.	.	N	10.58	1.389183	0.25118	.	.	ENSG00000196661	ENST00000354597	T	0.37235	1.21	3.79	3.79	0.43588	.	0.804248	0.10734	N	0.640250	T	0.20251	0.0487	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10177	-1.0641	10	0.27785	T	0.31	.	11.1431	0.48415	1.0:0.0:0.0:0.0	.	307	Q8NGG8	OR8B3_HUMAN	N	307	ENSP00000346611:I307N	ENSP00000346611:I307N	I	-	2	0	OR8B3	123771538	0.877000	0.30153	0.734000	0.30879	0.058000	0.15608	4.552000	0.60747	1.940000	0.56252	0.455000	0.32223	ATT		0.328	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1		NM_001005467	
PCNXL2	80003	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	233270864	233270864	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr1:233270864C>G	ENST00000258229.9	-	21	3966	c.3732G>C	c.(3730-3732)caG>caC	p.Q1244H	PCNXL2_ENST00000488780.2_Missense_Mutation_p.Q377H|PCNXL2_ENST00000520463.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1244						integral component of membrane (GO:0016021)		p.Q1244H(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGTTAATAAACTGGTAAACCG	0.378																																																	1	Substitution - Missense(1)	kidney(1)											74.0	74.0	74.0					1																	233270864		1872	4115	5987	SO:0001583	missense	80003			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.3732G>C	1.37:g.233270864C>G	ENSP00000258229:p.Gln1244His	Somatic		WXS	Illumina HiSeq	Phase_I	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.121113	0.37436	.	.	ENSG00000135749	ENST00000258229;ENST00000484347;ENST00000488780	T	0.10477	2.87	5.63	4.67	0.58626	.	0.055994	0.64402	D	0.000001	T	0.14141	0.0342	M	0.68952	2.095	0.80722	D	1	B	0.21309	0.054	B	0.23018	0.043	T	0.01920	-1.1247	10	0.66056	D	0.02	.	10.6769	0.45792	0.0:0.7962:0.1328:0.071	.	1244	A6NKB5	PCX2_HUMAN	H	1244;80;377	ENSP00000258229:Q1244H	ENSP00000258229:Q1244H	Q	-	3	2	PCNXL2	231337487	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	1.047000	0.30367	2.815000	0.96918	0.650000	0.86243	CAG		0.378	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3		NM_014801	
PENK	5179	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	57354188	57354188	+	Silent	SNP	C	C	T	rs367810374		TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr8:57354188C>T	ENST00000314922.3	-	2	523	c.447G>A	c.(445-447)tcG>tcA	p.S149S	PENK_ENST00000451791.2_Silent_p.S149S|PENK_ENST00000523274.1_5'UTR	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	149					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)	p.S149S(1)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			AATTGGCCAGCGAGTCGTCCT	0.532																																																	1	Substitution - coding silent(1)	kidney(1)						C	,	1,4405	2.1+/-5.4	0,1,2202	106.0	104.0	105.0		447,447	-3.4	0.0	8		105	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PENK	NM_001135690.1,NM_006211.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	149/268,149/268	57354188	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5179				CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"""Endogenous ligands"""	8831	protein-coding gene	gene with protein product	"""preproenkephalin"""	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.447G>A	8.37:g.57354188C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RC23|Q6FHC6|Q6FHE6	Silent	SNP	ENST00000314922.3	37	CCDS6168.1																																																																																				0.532	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			
PHACTR3	116154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	58318178	58318178	+	Silent	SNP	G	G	C			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr20:58318178G>C	ENST00000371015.1	+	2	602	c.135G>C	c.(133-135)acG>acC	p.T45T	PHACTR3_ENST00000395636.2_Silent_p.T4T|PHACTR3_ENST00000541461.1_Silent_p.T4T|PHACTR3_ENST00000361300.4_Silent_p.T4T|PHACTR3_ENST00000355648.4_Silent_p.T4T|PHACTR3_ENST00000395639.4_Silent_p.T4T|PHACTR3_ENST00000359926.3_Silent_p.T42T	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	45						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.T45T(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TGGACCAAACGCCCCCGGCGC	0.582																																																	2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)											90.0	101.0	97.0					20																	58318178		2203	4300	6503	SO:0001819	synonymous_variant	116154			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.135G>C	20.37:g.58318178G>C		Somatic		WXS	Illumina HiSeq	Phase_I	B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Silent	SNP	ENST00000371015.1	37	CCDS13480.1																																																																																				0.582	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3		NM_080672	
PIWIL1	9271	broad.mit.edu;ucsc.edu	37	12	130845828	130845828	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr12:130845828C>A	ENST00000245255.3	+	15	2041	c.1769C>A	c.(1768-1770)aCc>aAc	p.T590N		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	590	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.|RNA-binding. {ECO:0000250}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)	p.T590N(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GTGGCCCGAACCTTAGGCAAA	0.488																																																	1	Substitution - Missense(1)	kidney(1)											117.0	108.0	111.0					12																	130845828		2203	4300	6503	SO:0001583	missense	9271			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1769C>A	12.37:g.130845828C>A	ENSP00000245255:p.Thr590Asn	Somatic		WXS	Illumina GAIIx	Phase_I	A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687693	0.88639	.	.	ENSG00000125207	ENST00000245255	T	0.18960	2.18	5.73	5.73	0.89815	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.47303	0.1438	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	T	0.23119	-1.0197	10	0.45353	T	0.12	-30.7085	18.8917	0.92407	0.0:1.0:0.0:0.0	.	590;590	Q96J94;Q96J94-2	PIWL1_HUMAN;.	N	590	ENSP00000245255:T590N	ENSP00000245255:T590N	T	+	2	0	PIWIL1	129411781	1.000000	0.71417	0.153000	0.22517	0.926000	0.56050	7.686000	0.84128	2.706000	0.92434	0.655000	0.94253	ACC		0.488	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			
PNPLA8	50640	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	108155935	108155935	+	Start_Codon_SNP	SNP	T	T	C			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr7:108155935T>C	ENST00000422087.1	-	4	407	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	PNPLA8_ENST00000436062.1_Start_Codon_SNP_p.M1V|PNPLA8_ENST00000426128.2_Start_Codon_SNP_p.M1V|PNPLA8_ENST00000388728.5_Start_Codon_SNP_p.M1V|PNPLA8_ENST00000257694.8_Start_Codon_SNP_p.M1V|PNPLA8_ENST00000453144.1_Intron|PNPLA8_ENST00000483879.1_Intron	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	1					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)	p.M1V(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TTAATAGACATAACTTAAAAA	0.323																																																	1	Substitution - Missense(1)	kidney(1)											33.0	33.0	33.0					7																	108155935		2202	4300	6502	SO:0001582	initiator_codon_variant	50640			AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.1A>G	7.37:g.108155935T>C	ENSP00000410804:p.Met1Val	Somatic		WXS	Illumina HiSeq	Phase_I	A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	T	15.19	2.761180	0.49468	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000436062;ENST00000427008;ENST00000415498	D;D;D;D;D	0.98531	-3.85;-4.98;-3.84;-4.98;-4.98	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.98726	0.9572	.	.	.	0.80722	D	1	D	0.54964	0.969	D	0.63381	0.914	D	0.99741	1.1015	9	0.87932	D	0	.	15.1697	0.72862	0.0:0.0:0.0:1.0	.	1	Q9NP80	PLPL8_HUMAN	V	1	ENSP00000394988:M1V;ENSP00000257694:M1V;ENSP00000373380:M1V;ENSP00000410804:M1V;ENSP00000406779:M1V	ENSP00000257694:M1V	M	-	1	0	PNPLA8	107943171	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.925000	0.56484	1.959000	0.56917	0.377000	0.23210	ATG		0.323	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1		NM_015723	Missense_Mutation
PTPN13	5783	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	87662898	87662898	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr4:87662898G>C	ENST00000411767.2	+	16	2479	c.2416G>C	c.(2416-2418)Gaa>Caa	p.E806Q	PTPN13_ENST00000511467.1_Missense_Mutation_p.E806Q|PTPN13_ENST00000427191.2_Missense_Mutation_p.E806Q|PTPN13_ENST00000316707.6_Missense_Mutation_p.E806Q|PTPN13_ENST00000436978.1_Missense_Mutation_p.E806Q			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	806	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.E806Q(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CCTTGTGTTTGAAGTTCACAA	0.403																																																	1	Substitution - Missense(1)	kidney(1)											124.0	121.0	122.0					4																	87662898		1940	4136	6076	SO:0001583	missense	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.2416G>C	4.37:g.87662898G>C	ENSP00000407249:p.Glu806Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	33	5.216854	0.95104	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	5.73	5.73	0.89815	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.49305	D	0.000146	D	0.89774	0.6812	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.97110	0.993;0.999;1.0;0.999	D	0.89940	0.4072	10	0.72032	D	0.01	.	19.8961	0.96958	0.0:0.0:1.0:0.0	.	806;806;806;806	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	Q	806;806;806;806;806;774	ENSP00000408368:E806Q;ENSP00000394794:E806Q;ENSP00000322675:E806Q;ENSP00000407249:E806Q;ENSP00000426626:E806Q	ENSP00000322675:E806Q	E	+	1	0	PTPN13	87881922	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.699000	0.92147	0.655000	0.94253	GAA		0.403	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			
PTPN2	5771	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	12814354	12814354	+	Splice_Site	SNP	T	T	G			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr18:12814354T>G	ENST00000309660.5	-	7	799	c.706A>C	c.(706-708)Atg>Ctg	p.M236L	PTPN2_ENST00000591115.1_Splice_Site_p.M259L|PTPN2_ENST00000591497.1_Splice_Site_p.M207L|PTPN2_ENST00000353319.4_Splice_Site_p.M236L|PTPN2_ENST00000327283.3_Splice_Site_p.M236L	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	236	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|erythrocyte differentiation (GO:0030218)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemotaxis (GO:0050922)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of interleukin-2-mediated signaling pathway (GO:1902206)|negative regulation of interleukin-4-mediated signaling pathway (GO:1902215)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage colony-stimulating factor signaling pathway (GO:1902227)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of positive thymic T cell selection (GO:1902233)|negative regulation of prolactin signaling pathway (GO:1902212)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|negative regulation of tyrosine phosphorylation of Stat1 protein (GO:0042512)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|negative regulation of tyrosine phosphorylation of Stat6 protein (GO:0042527)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of gluconeogenesis (GO:0045722)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|syntaxin binding (GO:0019905)	p.M236L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				CCTTTTTCCATCTGCAAGAAA	0.358																																																	1	Substitution - Missense(1)	kidney(1)											61.0	56.0	58.0					18																	12814354		2203	4300	6503	SO:0001630	splice_region_variant	5771			M25393	CCDS11863.1, CCDS11864.1, CCDS11865.1, CCDS59306.1	18p11.3-p11.2	2011-06-09			ENSG00000175354	ENSG00000175354		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9650	protein-coding gene	gene with protein product		176887		PTPT		2164224	Standard	NM_002828		Approved	TCELLPTP, TC-PTP, TCPTP	uc002krp.3	P17706	OTTHUMG00000131702	ENST00000309660.5:c.706-1A>C	18.37:g.12814354T>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8K955|A8MXU3|K7ENG3|Q96AU5|Q96HR2	Missense_Mutation	SNP	ENST00000309660.5	37	CCDS11865.1	.	.	.	.	.	.	.	.	.	.	T	13.41	2.228049	0.39399	.	.	ENSG00000175354	ENST00000327283;ENST00000353319;ENST00000341361;ENST00000309660	T;T;T	0.80566	-1.39;-1.39;-1.39	5.86	3.43	0.39272	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.176621	0.39687	N	0.001281	T	0.61602	0.2360	N	0.10645	0.015	0.51012	D	0.999909	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.12156	0.004;0.002;0.007;0.005;0.003	T	0.53308	-0.8457	10	0.51188	T	0.08	.	8.6005	0.33742	0.0:0.0668:0.1305:0.8027	.	236;236;213;236;236	P17706;P17706-2;Q59F91;Q96AU5;A8K3N4	PTN2_HUMAN;.;.;.;.	L	236;236;213;236	ENSP00000320298:M236L;ENSP00000320546:M236L;ENSP00000311857:M236L	ENSP00000311857:M236L	M	-	1	0	PTPN2	12804354	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.829000	0.55760	0.459000	0.27016	-0.376000	0.06991	ATG		0.358	PTPN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254613.3		NM_002828, NM_080422, NM_080423	Missense_Mutation
RPE65	6121	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	68903915	68903915	+	Silent	SNP	G	G	C			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr1:68903915G>C	ENST00000262340.5	-	10	1136	c.1083C>G	c.(1081-1083)ccC>ccG	p.P361P		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	361					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)	p.P361P(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CTTCAGGTTGGGGAGCCTTTC	0.348																																																	1	Substitution - coding silent(1)	kidney(1)											104.0	106.0	106.0					1																	68903915		2203	4300	6503	SO:0001819	synonymous_variant	6121			U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.1083C>G	1.37:g.68903915G>C		Somatic		WXS	Illumina HiSeq	Phase_I	A8K1L0|Q5T9U3	Silent	SNP	ENST00000262340.5	37	CCDS643.1																																																																																				0.348	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1		NM_000329	
SETD4	54093	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	37418187	37418187	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr21:37418187G>A	ENST00000399215.1	-	5	1791	c.419C>T	c.(418-420)cCt>cTt	p.P140L	SETD4_ENST00000399205.1_Missense_Mutation_p.P116L|SETD4_ENST00000399212.1_Missense_Mutation_p.P116L|SETD4_ENST00000332131.4_Missense_Mutation_p.P140L|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399207.1_Missense_Mutation_p.P140L|SETD4_ENST00000399208.2_Missense_Mutation_p.P140L|SETD4_ENST00000399201.1_Missense_Mutation_p.P116L			Q9NVD3	SETD4_HUMAN	SET domain containing 4	140	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						methyltransferase activity (GO:0008168)	p.P140L(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						CAAACAAACAGGGCAGGTATA	0.502																																																	1	Substitution - Missense(1)	kidney(1)											81.0	91.0	88.0					21																	37418187		2203	4300	6503	SO:0001583	missense	54093			AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917			1258	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 27"", ""chromosome 21 open reading frame 18"""	C21orf27, C21orf18			Standard	XM_005261000		Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.419C>T	21.37:g.37418187G>A	ENSP00000382163:p.Pro140Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Missense_Mutation	SNP	ENST00000399215.1	37	CCDS13640.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328780	0.81690	.	.	ENSG00000185917	ENST00000399215;ENST00000399212;ENST00000332131;ENST00000399205;ENST00000399208;ENST00000399201;ENST00000399207;ENST00000424303;ENST00000429161;ENST00000446166	T;T;T;T;T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25	4.97	4.07	0.47477	SET domain (1);	0.100322	0.64402	D	0.000001	T	0.27798	0.0684	L	0.58810	1.83	0.80722	D	1	P;D;P;D	0.53619	0.915;0.961;0.949;0.959	P;P;P;P	0.51806	0.581;0.68;0.554;0.585	T	0.01706	-1.1291	10	0.49607	T	0.09	-29.1893	14.2306	0.65890	0.0761:0.0:0.9239:0.0	.	116;140;116;140	A8MTS1;C9JWV5;Q9NVD3-3;Q9NVD3	.;.;.;SETD4_HUMAN	L	140;116;140;116;140;116;140;140;140;116	ENSP00000382163:P140L;ENSP00000382161:P116L;ENSP00000329189:P140L;ENSP00000382156:P116L;ENSP00000382159:P140L;ENSP00000382152:P116L;ENSP00000382158:P140L;ENSP00000399998:P140L;ENSP00000396837:P140L;ENSP00000413318:P116L	ENSP00000329189:P140L	P	-	2	0	SETD4	36340057	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.773000	0.68898	2.471000	0.83476	0.655000	0.94253	CCT		0.502	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1		NM_017438	
SLC39A13	91252	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	47433931	47433931	+	Silent	SNP	G	G	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr11:47433931G>A	ENST00000362021.4	+	4	492	c.450G>A	c.(448-450)caG>caA	p.Q150Q	SLC39A13_ENST00000529740.1_3'UTR|SLC39A13_ENST00000531974.1_3'UTR|SLC39A13_ENST00000524928.1_Silent_p.Q150Q|SLC39A13_ENST00000354884.4_Silent_p.Q150Q|SLC39A13_ENST00000533076.1_Silent_p.Q150Q	NM_001128225.2	NP_001121697	Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter), member 13	150	Poly-Gln.				cellular zinc ion homeostasis (GO:0006882)|connective tissue development (GO:0061448)|zinc ion transmembrane transport (GO:0071577)	Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|zinc ion transmembrane transporter activity (GO:0005385)	p.Q150Q(1)		breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		AGCAGCAACAGCTGGGGCTGT	0.662											OREG0020959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	kidney(1)											45.0	39.0	41.0					11																	47433931		2201	4298	6499	SO:0001819	synonymous_variant	91252				CCDS7934.1, CCDS44592.1	11p11.2	2013-05-22			ENSG00000165915	ENSG00000165915		"""Solute carriers"""	20859	protein-coding gene	gene with protein product		608735	"""solute carrier family 39 (metal ion transporter), member 13"""			12659941	Standard	NM_001128225		Approved	FLJ25785	uc009ylq.3	Q96H72	OTTHUMG00000166890	ENST00000362021.4:c.450G>A	11.37:g.47433931G>A		Somatic	946	WXS	Illumina HiSeq	Phase_I	D3DQR6|D3DQR7|E9PLY1|E9PQV3|Q659D9|Q8N7C9|Q8WV10	Silent	SNP	ENST00000362021.4	37	CCDS44592.1																																																																																				0.662	SLC39A13-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395652.1		NM_152264	
SLC4A3	6508	broad.mit.edu;ucsc.edu	37	2	220502504	220502504	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr2:220502504T>C	ENST00000358055.3	+	17	3249	c.2737T>C	c.(2737-2739)Ttc>Ctc	p.F913L	SLC4A3_ENST00000373762.3_Missense_Mutation_p.F940L|SLC4A3_ENST00000273063.6_Missense_Mutation_p.F940L|SLC4A3_ENST00000317151.3_Missense_Mutation_p.F913L|SLC4A3_ENST00000373760.2_Missense_Mutation_p.F913L			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	913	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)	p.F940L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGCGCAAGTTCAGGAACAG	0.627																																																	1	Substitution - Missense(1)	kidney(1)											78.0	58.0	65.0					2																	220502504		2203	4300	6503	SO:0001583	missense	6508				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2737T>C	2.37:g.220502504T>C	ENSP00000350756:p.Phe913Leu	Somatic		WXS	Illumina GAIIx	Phase_I	A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.442120	0.83993	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000356251;ENST00000317151	T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21	4.7	4.7	0.59300	Bicarbonate transporter, C-terminal (1);	0.102653	0.64402	D	0.000002	T	0.80889	0.4710	L	0.50993	1.605	0.80722	D	1	B;P;B	0.42039	0.075;0.769;0.349	B;P;B	0.51324	0.133;0.666;0.311	T	0.82776	-0.0290	10	0.62326	D	0.03	.	14.6781	0.68996	0.0:0.0:0.0:1.0	.	617;913;940	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	L	913;913;940;940;173;913	ENSP00000350756:F913L;ENSP00000362865:F913L;ENSP00000273063:F940L;ENSP00000362867:F940L;ENSP00000314006:F913L	ENSP00000273063:F940L	F	+	1	0	SLC4A3	220210748	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.053000	0.71089	2.110000	0.64415	0.451000	0.29950	TTC		0.627	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1		NM_005070	
SLCO4C1	353189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	101597678	101597678	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr5:101597678A>G	ENST00000310954.6	-	5	1245	c.959T>C	c.(958-960)cTa>cCa	p.L320P		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1									p.L320P(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GATCCATGATAGAAGAAACCC	0.373																																																	1	Substitution - Missense(1)	kidney(1)											104.0	103.0	103.0					5																	101597678		2203	4300	6503	SO:0001583	missense	353189			AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.959T>C	5.37:g.101597678A>G	ENSP00000309741:p.Leu320Pro	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000310954.6	37	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.995423	0.54147	.	.	ENSG00000173930	ENST00000310954	T	0.41400	1.0	5.82	5.82	0.92795	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.228650	0.06126	N	0.669747	T	0.44787	0.1310	L	0.48218	1.51	0.20196	N	0.999928	B	0.33299	0.407	B	0.35931	0.214	T	0.44314	-0.9336	10	0.72032	D	0.01	.	12.0437	0.53466	0.9309:0.0:0.0691:0.0	.	320	Q6ZQN7	SO4C1_HUMAN	P	320	ENSP00000309741:L320P	ENSP00000309741:L320P	L	-	2	0	SLCO4C1	101625577	0.007000	0.16637	0.003000	0.11579	0.961000	0.63080	2.345000	0.44018	2.214000	0.71695	0.477000	0.44152	CTA		0.373	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1		NM_180991	
SLIT3	6586	hgsc.bcm.edu	37	5	168096839	168096839	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr5:168096839C>T	ENST00000519560.1	-	35	4704	c.4285G>A	c.(4285-4287)Gag>Aag	p.E1429K	SLIT3_ENST00000332966.8_Missense_Mutation_p.E1436K|CTC-558O2.2_ENST00000520041.1_RNA|SLIT3_ENST00000404867.3_Missense_Mutation_p.E1429K	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1429	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGTAGGGCTCCCCTTGGTCT	0.592																																					Ovarian(29;311 847 10864 17279 24903)												0													124.0	93.0	103.0					5																	168096839		2203	4300	6503	SO:0001583	missense	6586			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.4285G>A	5.37:g.168096839C>T	ENSP00000430333:p.Glu1429Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665058	0.47677	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.75367	-0.93;-0.93;-0.92	5.13	3.2	0.36748	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.254500	0.44285	D	0.000478	T	0.64080	0.2566	L	0.28458	0.855	0.44562	D	0.997525	B	0.15141	0.012	B	0.10450	0.005	T	0.58978	-0.7540	10	0.31617	T	0.26	.	16.9435	0.86224	0.0:0.7433:0.2567:0.0	.	1429	O75094	SLIT3_HUMAN	K	1429;1436;1429	ENSP00000430333:E1429K;ENSP00000332164:E1436K;ENSP00000384890:E1429K	ENSP00000332164:E1436K	E	-	1	0	SLIT3	168029417	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.018000	0.30002	1.115000	0.41800	0.561000	0.74099	GAG		0.592	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4		NM_003062	
SMCR8	140775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	18219207	18219207	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr17:18219207T>A	ENST00000406438.3	+	1	584	c.104T>A	c.(103-105)tTc>tAc	p.F35Y	TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	35						nucleus (GO:0005634)		p.F35Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GTGCCGCTCTTCCCCTTCGCC	0.557																																																	1	Substitution - Missense(1)	kidney(1)											87.0	89.0	88.0					17																	18219207		2203	4300	6503	SO:0001583	missense	140775			AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.104T>A	17.37:g.18219207T>A	ENSP00000385025:p.Phe35Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	T	12.23	1.876954	0.33162	.	.	ENSG00000176994	ENST00000406438	T	0.27402	1.67	6.11	5.02	0.67125	.	0.165839	0.53938	N	0.000054	T	0.19525	0.0469	N	0.17082	0.46	0.40987	D	0.984824	B	0.14012	0.009	B	0.11329	0.006	T	0.05115	-1.0905	10	0.25106	T	0.35	-20.5812	12.287	0.54797	0.1357:0.0:0.0:0.8643	.	35	Q8TEV9	SMCR8_HUMAN	Y	35	ENSP00000385025:F35Y	ENSP00000385025:F35Y	F	+	2	0	SMCR8	18159932	0.277000	0.24220	0.932000	0.37286	0.824000	0.46624	1.009000	0.29886	1.086000	0.41228	0.533000	0.62120	TTC		0.557	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2		NM_144775	
SNX32	254122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	65617711	65617711	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr11:65617711G>C	ENST00000308342.6	+	4	768	c.343G>C	c.(343-345)Gag>Cag	p.E115Q		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	115	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)	p.E115Q(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CACTCGGGAAGAGTTTGCCAA	0.577																																																	1	Substitution - Missense(1)	kidney(1)											69.0	71.0	71.0					11																	65617711		2201	4297	6498	SO:0001583	missense	254122			AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"""Sorting nexins"""	26423	protein-coding gene	gene with protein product			"""sorting nexin 6B"""	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.343G>C	11.37:g.65617711G>C	ENSP00000310620:p.Glu115Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IW53|Q96NG4	Missense_Mutation	SNP	ENST00000308342.6	37	CCDS8113.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.312238|4.312238	0.81358|0.81358	.|.	.|.	ENSG00000172803|ENSG00000172803	ENST00000308342|ENST00000536740	T|.	0.35236|.	1.32|.	4.48|4.48	3.56|3.56	0.40772|0.40772	Phox homologous domain (4);|.	0.646397|.	0.14340|.	N|.	0.325787|.	T|T	0.79563|0.79563	0.4467|0.4467	M|M	0.92219|0.92219	3.285|3.285	0.37433|0.37433	D|D	0.9141|0.9141	P|.	0.52692|.	0.955|.	B|.	0.40256|.	0.324|.	D|D	0.84747|0.84747	0.0754|0.0754	10|6	0.72032|0.72032	D|D	0.01|0.01	-24.0427|-24.0427	10.2072|10.2072	0.43120|0.43120	0.0988:0.0:0.9012:0.0|0.0988:0.0:0.9012:0.0	.|.	115|.	Q86XE0|.	SNX32_HUMAN|.	Q|T	115|93	ENSP00000310620:E115Q|.	ENSP00000310620:E115Q|ENSP00000440891:R93T	E|R	+|+	1|2	0|0	SNX32|SNX32	65374287|65374287	1.000000|1.000000	0.71417|0.71417	0.361000|0.361000	0.25849|0.25849	0.980000|0.980000	0.70556|0.70556	8.882000|8.882000	0.92420|0.92420	1.092000|1.092000	0.41356|0.41356	0.561000|0.561000	0.74099|0.74099	GAG|AGA		0.577	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3		NM_152760	
TDRD6	221400	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	46661744	46661744	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr6:46661744A>T	ENST00000316081.6	+	1	5879	c.5879A>T	c.(5878-5880)cAt>cTt	p.H1960L	TDRD6_ENST00000544460.1_Missense_Mutation_p.H1960L	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1960					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.H1960L(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TTGCATCTACATGGAGCAGAT	0.393																																																	1	Substitution - Missense(1)	kidney(1)											146.0	141.0	143.0					6																	46661744		2203	4300	6503	SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.5879A>T	6.37:g.46661744A>T	ENSP00000346065:p.His1960Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	A	9.280	1.047841	0.19827	.	.	ENSG00000180113	ENST00000544460;ENST00000316081;ENST00000371334	T;T	0.15372	2.43;2.43	4.65	-9.3	0.00649	.	2.301490	0.01629	N	0.023446	T	0.02970	0.0088	L	0.43152	1.355	0.09310	N	1	B;B	0.26258	0.145;0.09	B;B	0.21708	0.036;0.016	T	0.10200	-1.0640	10	0.38643	T	0.18	5.0643	1.8402	0.03148	0.1744:0.2018:0.3682:0.2556	.	1960;1960	F5H5M3;O60522	.;TDRD6_HUMAN	L	1960;1960;21	ENSP00000443299:H1960L;ENSP00000346065:H1960L	ENSP00000346065:H1960L	H	+	2	0	TDRD6	46769703	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.267000	0.18552	-2.705000	0.00396	-1.328000	0.01277	CAT		0.393	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1		XM_166443	
SYNJ2	8871	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	158517224	158517224	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr6:158517224G>A	ENST00000355585.4	+	27	4394	c.4319G>A	c.(4318-4320)gGa>gAa	p.G1440E	SYNJ2_ENST00000367112.1_Missense_Mutation_p.G525E|SYNJ2_ENST00000367122.2_Missense_Mutation_p.G1395E	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1440					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)	p.G1440E(1)		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)		TTGGACTCAGGAACCAGGAGC	0.502																																																	1	Substitution - Missense(1)	kidney(1)											56.0	58.0	58.0					6																	158517224		2203	4300	6503	SO:0001583	missense	8871			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.4319G>A	6.37:g.158517224G>A	ENSP00000347792:p.Gly1440Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	G	8.106	0.777672	0.16120	.	.	ENSG00000078269	ENST00000367122;ENST00000355585;ENST00000367112	D;D;T	0.92858	-3.1;-3.12;0.88	5.79	1.47	0.22746	.	0.612082	0.15587	N	0.254613	T	0.61060	0.2317	N	0.19112	0.55	0.09310	N	1	B;B	0.18461	0.028;0.002	B;B	0.15870	0.014;0.001	T	0.52571	-0.8558	10	0.09084	T	0.74	.	0.7318	0.00958	0.2791:0.1345:0.3844:0.202	.	835;1440	B4DLC4;O15056	.;SYNJ2_HUMAN	E	1395;1440;525	ENSP00000356089:G1395E;ENSP00000347792:G1440E;ENSP00000356079:G525E	ENSP00000347792:G1440E	G	+	2	0	SYNJ2	158437212	0.005000	0.15991	0.000000	0.03702	0.273000	0.26683	0.480000	0.22244	-0.113000	0.11958	-0.147000	0.13772	GGA		0.502	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			
TGM5	9333	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43531237	43531237	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr15:43531237G>A	ENST00000220420.5	-	9	1130	c.1123C>T	c.(1123-1125)Cct>Tct	p.P375S	TGM5_ENST00000349114.4_Missense_Mutation_p.P293S	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	375					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.P375S(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	ACAGAGGCAGGGCCACAGCAG	0.592																																																	1	Substitution - Missense(1)	kidney(1)											84.0	70.0	75.0					15																	43531237		2202	4299	6501	SO:0001583	missense	9333			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1123C>T	15.37:g.43531237G>A	ENSP00000220420:p.Pro375Ser	Somatic		WXS	Illumina HiSeq	Phase_I	O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933837	0.92458	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.57107	0.42;0.42	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.76905	0.4053	M	0.86343	2.81	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80901	-0.1175	10	0.87932	D	0	-12.0091	17.0051	0.86391	0.0:0.0:1.0:0.0	.	293;375	O43548-2;O43548	.;TGM5_HUMAN	S	375;293;374	ENSP00000220420:P375S;ENSP00000220419:P293S	ENSP00000220420:P375S	P	-	1	0	TGM5	41318529	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.813000	0.99286	2.620000	0.88729	0.563000	0.77884	CCT		0.592	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1		NM_004245	
TMEM63B	55362	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	44107238	44107238	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr6:44107238G>A	ENST00000259746.9	+	7	625	c.442G>A	c.(442-444)Gcc>Acc	p.A148T	TMEM63B_ENST00000323267.6_Missense_Mutation_p.A148T|TMEM63B_ENST00000527188.1_3'UTR			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	148					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)	p.A148T(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			TGGGGGCGATGCCGTGCACTA	0.582																																																	1	Substitution - Missense(1)	kidney(1)											144.0	116.0	125.0					6																	44107238		2203	4300	6503	SO:0001583	missense	55362			BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.442G>A	6.37:g.44107238G>A	ENSP00000259746:p.Ala148Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	ENST00000259746.9	37	CCDS34461.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.57|16.57	3.161310|3.161310	0.57368|0.57368	.|.	.|.	ENSG00000137216|ENSG00000137216	ENST00000259746;ENST00000532634;ENST00000323267|ENST00000371893	T;T;T|.	0.61859|.	0.07;0.07;0.07|.	4.53|4.53	4.53|4.53	0.55603|0.55603	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73426|0.73426	0.3585|0.3585	M|M	0.83603|0.83603	2.65|2.65	0.54753|0.54753	D|D	0.999989|0.999989	D;D;P|.	0.67145|.	0.991;0.996;0.882|.	D;D;P|.	0.66497|.	0.936;0.944;0.603|.	T|T	0.76293|0.76293	-0.3012|-0.3012	10|5	0.87932|.	D|.	0|.	.|.	16.4147|16.4147	0.83730|0.83730	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	148;148;148|.	Q5T3F8-3;Q5T3F8;Q5T3F8-2|.	.;TM63B_HUMAN;.|.	T|I	148|76	ENSP00000259746:A148T;ENSP00000437163:A148T;ENSP00000327154:A148T|.	ENSP00000259746:A148T|.	A|M	+|+	1|3	0|0	TMEM63B|TMEM63B	44215216|44215216	1.000000|1.000000	0.71417|0.71417	0.194000|0.194000	0.23346|0.23346	0.162000|0.162000	0.22319|0.22319	9.583000|9.583000	0.98217|0.98217	2.356000|2.356000	0.79943|0.79943	0.561000|0.561000	0.74099|0.74099	GCC|ATG		0.582	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2		XM_166410	
TNS3	64759	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	47384598	47384598	+	Silent	SNP	G	G	T	rs200492693		TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr7:47384598G>T	ENST00000398879.1	-	19	2856	c.2490C>A	c.(2488-2490)atC>atA	p.I830I	TNS3_ENST00000311160.9_Silent_p.I830I|TNS3_ENST00000355730.3_Silent_p.I590I			Q68CZ2	TENS3_HUMAN	tensin 3	830					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.I830I(1)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TTCTGCCATCGATAATATCGA	0.478																																																	1	Substitution - coding silent(1)	kidney(1)											93.0	90.0	91.0					7																	47384598		1986	4165	6151	SO:0001819	synonymous_variant	64759			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2490C>A	7.37:g.47384598G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	ENST00000398879.1	37	CCDS5506.2																																																																																				0.478	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1		NM_022748	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179401957	179401957	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr2:179401957T>G	ENST00000591111.1	-	306	95180	c.94956A>C	c.(94954-94956)aaA>aaC	p.K31652N	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K24420N|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K33293N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K24353N|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K24228N|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K30725N|TTN-AS1_ENST00000589434.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31652					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)	p.K24228N(1)|p.K24353N(1)|p.K30723N(1)|p.K24420N(1)|p.K30725N(1)		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)			GTCCTGTAGGTTTGTCTGGTT	0.398																																																	5	Substitution - Missense(5)	kidney(5)											58.0	55.0	56.0					2																	179401957		1842	4095	5937	SO:0001583	missense	7273			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.94956A>C	2.37:g.179401957T>G	ENSP00000465570:p.Lys31652Asn	Somatic		WXS	Illumina HiSeq	Phase_I	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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	14.49	2.550531	0.45383	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.65	-0.656	0.11436	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54727	0.1876	M	0.64997	1.995	0.39702	D	0.9712	P;P;P;D	0.53312	0.92;0.92;0.92;0.959	P;P;P;P	0.50109	0.631;0.631;0.631;0.631	T	0.61983	-0.6950	9	0.87932	D	0	.	10.5658	0.45171	0.0:0.4242:0.0:0.5758	.	24228;24353;24420;31652	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	30725;24228;24420;24353;24225	ENSP00000343764:K30725N;ENSP00000434586:K24228N;ENSP00000340554:K24420N;ENSP00000352154:K24353N	ENSP00000340554:K24420N	K	-	3	2	TTN	179110203	0.786000	0.28738	1.000000	0.80357	0.995000	0.86356	-0.177000	0.09796	0.091000	0.17302	0.460000	0.39030	AAA		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
TXNIP	10628	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	145440274	145440274	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr1:145440274G>A	ENST00000369317.4	+	5	914	c.580G>A	c.(580-582)Gag>Aag	p.E194K	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	194					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)	p.E194K(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCTAGGTGATGAGATTTCCAT	0.478																																																	1	Substitution - Missense(1)	kidney(1)											108.0	108.0	108.0					1																	145440274		2203	4300	6503	SO:0001583	missense	10628			S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.580G>A	1.37:g.145440274G>A	ENSP00000358323:p.Glu194Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	ENST00000369317.4	37	CCDS913.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.185392	0.57909	.	.	ENSG00000117289	ENST00000369317;ENST00000425134	T;T	0.17854	2.25;2.25	5.69	5.69	0.88448	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	0.192683	0.44285	D	0.000478	T	0.04907	0.0132	N	0.22421	0.69	0.52099	D	0.999948	B;B	0.29862	0.259;0.049	B;B	0.30943	0.122;0.025	T	0.04840	-1.0923	10	0.05525	T	0.97	-0.771	17.3154	0.87222	0.0:0.0:1.0:0.0	.	139;194	B4E3D3;Q9H3M7	.;TXNIP_HUMAN	K	194;139	ENSP00000358323:E194K;ENSP00000396322:E139K	ENSP00000358323:E194K	E	+	1	0	TXNIP	144151631	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.445000	0.80570	2.696000	0.92011	0.651000	0.88453	GAG		0.478	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1		NM_006472	
USP2	9099	broad.mit.edu;ucsc.edu	37	11	119229962	119229962	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr11:119229962G>A	ENST00000260187.2	-	5	1334	c.1040C>T	c.(1039-1041)gCa>gTa	p.A347V	USP2_ENST00000525735.1_Missense_Mutation_p.A138V|USP2_ENST00000455332.2_Missense_Mutation_p.A104V	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	347	USP.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.A347V(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		AAAGCGCGGTGCGTATCTCTG	0.498																																																	1	Substitution - Missense(1)	kidney(1)											90.0	79.0	83.0					11																	119229962		2199	4295	6494	SO:0001583	missense	9099			AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"""Ubiquitin-specific peptidases"""	12618	protein-coding gene	gene with protein product		604725	"""ubiquitin specific protease 2"""			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.1040C>T	11.37:g.119229962G>A	ENSP00000260187:p.Ala347Val	Somatic		WXS	Illumina GAIIx	Phase_I	B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	ENST00000260187.2	37	CCDS8422.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116058	0.56505	.	.	ENSG00000036672	ENST00000455332;ENST00000260187;ENST00000392808;ENST00000525735	T;T;T	0.33438	1.41;1.41;1.41	5.91	5.91	0.95273	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.096661	0.64402	D	0.000001	T	0.42585	0.1209	L	0.57130	1.785	0.58432	D	0.999999	P;P;P	0.48503	0.68;0.911;0.456	B;P;B	0.48921	0.243;0.595;0.17	T	0.07290	-1.0780	10	0.38643	T	0.18	-3.6066	18.8744	0.92328	0.0:0.0:1.0:0.0	.	104;347;138	E9PPM2;O75604;O75604-4	.;UBP2_HUMAN;.	V	104;347;94;138	ENSP00000407842:A104V;ENSP00000260187:A347V;ENSP00000436952:A138V	ENSP00000260187:A347V	A	-	2	0	USP2	118735172	1.000000	0.71417	0.872000	0.34217	0.917000	0.54804	7.856000	0.86956	2.813000	0.96785	0.655000	0.94253	GCA		0.498	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2		NM_171997	
WBP11	51729	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	14943401	14943401	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr12:14943401C>A	ENST00000261167.2	-	10	1531	c.1298G>T	c.(1297-1299)gGt>gTt	p.G433V		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	433	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)	p.G433V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						TGGAGGTGGACCAGGAGGAAG	0.463																																																	1	Substitution - Missense(1)	kidney(1)											95.0	100.0	98.0					12																	14943401		2203	4300	6503	SO:0001583	missense	51729			AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.1298G>T	12.37:g.14943401C>A	ENSP00000261167:p.Gly433Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q96AY8	Missense_Mutation	SNP	ENST00000261167.2	37	CCDS8666.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694202	0.48202	.	.	ENSG00000084463	ENST00000261167	.	.	.	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.75428	0.3848	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.71556	-0.4557	9	0.11794	T	0.64	-21.5876	15.08	0.72108	0.0:1.0:0.0:0.0	.	433	Q9Y2W2	WBP11_HUMAN	V	433	.	ENSP00000261167:G433V	G	-	2	0	WBP11	14834668	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.917000	0.63369	2.426000	0.82243	0.655000	0.94253	GGT		0.463	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1		NM_016312	
WDFY3	23001	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	85722980	85722980	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr4:85722980A>G	ENST00000295888.4	-	17	3052	c.2645T>C	c.(2644-2646)tTa>tCa	p.L882S	WDFY3_ENST00000322366.6_Missense_Mutation_p.L882S|WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000512267.1_5'UTR	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	882					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.L882S(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAGGGATTGTAAAATATTTGC	0.443																																																	1	Substitution - Missense(1)	kidney(1)											81.0	71.0	74.0					4																	85722980		2203	4300	6503	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.2645T>C	4.37:g.85722980A>G	ENSP00000295888:p.Leu882Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.943795	0.73672	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.68765	-0.35;-0.35	5.65	5.65	0.86999	Armadillo-like helical (1);	0.066541	0.64402	D	0.000014	T	0.64864	0.2637	L	0.58101	1.795	0.80722	D	1	P	0.47302	0.893	B	0.40101	0.319	T	0.71424	-0.4597	10	0.87932	D	0	.	16.1864	0.81955	1.0:0.0:0.0:0.0	.	882	Q8IZQ1	WDFY3_HUMAN	S	882	ENSP00000318466:L882S;ENSP00000295888:L882S	ENSP00000295888:L882S	L	-	2	0	WDFY3	85942004	1.000000	0.71417	0.965000	0.40720	0.844000	0.47949	8.910000	0.92685	2.281000	0.76405	0.528000	0.53228	TTA		0.443	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2		NM_014991	
XPR1	9213	broad.mit.edu;ucsc.edu	37	1	180794054	180794054	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr1:180794054A>G	ENST00000367590.4	+	8	1127	c.929A>G	c.(928-930)aAt>aGt	p.N310S	AL590085.1_ENST00000579998.1_RNA|XPR1_ENST00000367589.3_Missense_Mutation_p.N310S	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	310					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)	p.N310S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CCGAGAAGCAATTTGTCTCAT	0.383																																																	1	Substitution - Missense(1)	kidney(1)											129.0	119.0	122.0					1																	180794054		2203	4300	6503	SO:0001583	missense	9213			AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.929A>G	1.37:g.180794054A>G	ENSP00000356562:p.Asn310Ser	Somatic		WXS	Illumina GAIIx	Phase_I	O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.238607	0.79800	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T;T	0.38560	1.13;1.13	5.65	5.65	0.86999	EXS, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49847	0.1581	L	0.40543	1.245	0.80722	D	1	D;P	0.55172	0.97;0.8	P;P	0.55345	0.774;0.636	T	0.49588	-0.8924	10	0.54805	T	0.06	-13.7808	15.5314	0.75964	1.0:0.0:0.0:0.0	.	310;310	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	S	310	ENSP00000356562:N310S;ENSP00000356561:N310S	ENSP00000356561:N310S	N	+	2	0	XPR1	179060677	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.780000	0.91799	2.152000	0.67230	0.528000	0.53228	AAT		0.383	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2		NM_004736	
XPR1	9213	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	180849261	180849261	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr1:180849261T>C	ENST00000367590.4	+	14	2056	c.1858T>C	c.(1858-1860)Tgt>Cgt	p.C620R	XPR1_ENST00000367589.3_Missense_Mutation_p.C555R	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	620	EXS. {ECO:0000255|PROSITE- ProRule:PRU00712}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)	p.C620R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TCTGAATAACTGTGGTGAATT	0.468																																																	1	Substitution - Missense(1)	kidney(1)											118.0	116.0	117.0					1																	180849261		2203	4300	6503	SO:0001583	missense	9213			AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.1858T>C	1.37:g.180849261T>C	ENSP00000356562:p.Cys620Arg	Somatic		WXS	Illumina HiSeq	Phase_I	O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.623932	0.87460	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T	0.47869	0.83	5.57	5.57	0.84162	EXS, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71467	0.3343	M	0.83852	2.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.989	T	0.76594	-0.2902	10	0.87932	D	0	-13.2976	15.3962	0.74794	0.0:0.0:0.0:1.0	.	555;620	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	R	620;555	ENSP00000356562:C620R	ENSP00000356561:C555R	C	+	1	0	XPR1	179115884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.926000	0.87569	2.101000	0.63845	0.482000	0.46254	TGT		0.468	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2		NM_004736	
ZNF233	353355	hgsc.bcm.edu	37	19	44778796	44778796	+	Frame_Shift_Del	DEL	G	G	-	rs386809644|rs59660444|rs75921463|rs386809645	byFrequency	TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr19:44778796delG	ENST00000391958.2	+	5	2110	c.1983delG	c.(1981-1983)tcgfs	p.S661fs	ZNF233_ENST00000334152.1_Frame_Shift_Del_p.S643fs|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	661					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(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GTAAGAGTTCGTTGTCTTCAG	0.418													?|G|-|unsure	1594	0.318291	0.6536	0.3372	5008	,	,		19999	0.2579		0.1322	False		,,,				2504	0.1053																0													39.0	73.0	61.0					19																	44778796		2094	4294	6388	SO:0001589	frameshift_variant	353355			AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1983delG	19.37:g.44778796delG	ENSP00000375820:p.Ser661fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RN78|B2RN79|Q86WL8	Frame_Shift_Del	DEL	ENST00000391958.2	37	CCDS33047.1																																																																																				0.418	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1		NM_181756	
ZNF284	342909	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44586259	44586259	+	Splice_Site	SNP	G	G	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr19:44586259G>A	ENST00000421176.3	+	4	451		c.e4+1		ZNF223_ENST00000591793.1_Splice_Site	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284						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.?(1)		NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				GGGAATTCAGGTAAGAACCAA	0.448																																																	1	Unknown(1)	kidney(1)											101.0	100.0	100.0					19																	44586259		2202	4300	6502	SO:0001630	splice_region_variant	342909			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.235+1G>A	19.37:g.44586259G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q86WM1	Splice_Site	SNP	ENST00000421176.3	37	CCDS46099.1	.	.	.	.	.	.	.	.	.	.	g	11.21	1.572996	0.28092	.	.	ENSG00000186026	ENST00000421176	.	.	.	1.88	1.88	0.25563	.	.	.	.	.	.	.	.	.	.	.	0.29173	N	0.876972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.2469	0.26127	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF284	49278099	0.290000	0.24343	0.022000	0.16811	0.451000	0.32288	0.699000	0.25586	1.330000	0.45394	0.462000	0.41574	.		0.448	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460473.1		NM_001037813	Intron
ZNF607	84775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	38190296	38190296	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr19:38190296T>A	ENST00000355202.4	-	5	1331	c.736A>T	c.(736-738)Att>Ttt	p.I246F	ZNF607_ENST00000395835.3_Missense_Mutation_p.I245F|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	246					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)	p.I246F(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CCAGTGTGAATACTCTGATGT	0.413																																																	1	Substitution - Missense(1)	kidney(1)											57.0	58.0	58.0					19																	38190296		2203	4300	6503	SO:0001583	missense	84775			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.736A>T	19.37:g.38190296T>A	ENSP00000347338:p.Ile246Phe	Somatic		WXS	Illumina HiSeq	Phase_I	F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	T	19.23	3.787340	0.70337	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.18338	2.22;2.22	2.1	0.956	0.19608	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29524	0.0736	L	0.53249	1.67	0.25483	N	0.987712	D;D	0.71674	0.966;0.998	P;D	0.66979	0.61;0.948	T	0.09840	-1.0656	9	0.87932	D	0	.	5.2488	0.15512	0.0:0.187:0.0:0.813	.	246;245	Q96SK3;F5H141	ZN607_HUMAN;.	F	246;245	ENSP00000347338:I246F;ENSP00000438015:I245F	ENSP00000347338:I246F	I	-	1	0	ZNF607	42882136	0.000000	0.05858	0.199000	0.23439	0.945000	0.59286	-0.203000	0.09438	0.071000	0.16664	0.459000	0.35465	ATT		0.413	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2		NM_032689	
ZNF468	90333	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	53345371	53345371	+	Missense_Mutation	SNP	G	G	A	rs148965254	byFrequency	TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr19:53345371G>A	ENST00000595646.1	-	4	296	c.176C>T	c.(175-177)tCg>tTg	p.S59L	ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_Silent_p.V98V|ZNF468_ENST00000390651.4_Missense_Mutation_p.S6L|ZNF468_ENST00000396409.4_Missense_Mutation_p.S6L			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	59	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)	p.S59L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		CCCTGTTGACGACAACGTCTT	0.368													-|||	5	0.000998403	0.0038	0.0	5008	,	,		21001	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)						G	LEU/SER,LEU/SER	12,4394	16.8+/-37.8	0,12,2191	124.0	117.0	119.0		176,17	0.0	0.0	19	dbSNP_134	119	0,8600		0,0,4300	yes	missense,missense	ZNF468	NM_001008801.1,NM_199132.1	145,145	0,12,6491	AA,AG,GG		0.0,0.2724,0.0923	benign,benign	59/523,6/470	53345371	12,12994	2203	4300	6503	SO:0001583	missense	90333			AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.176C>T	19.37:g.53345371G>A	ENSP00000470381:p.Ser59Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	ENST00000595646.1	37	CCDS33094.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	g	6.805	0.517593	0.13005	0.002724	0.0	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651	T;T	0.06294	3.32;3.32	1.2	0.0078	0.14072	Krueppel-associated box (2);	.	.	.	.	T	0.02304	0.0071	N	0.04203	-0.255	0.09310	N	1	B	0.23128	0.08	B	0.17098	0.017	T	0.47598	-0.9105	9	0.07482	T	0.82	.	6.0589	0.19826	0.0:0.0:0.6545:0.3455	.	59	Q5VIY5	ZN468_HUMAN	L	59;6;6	ENSP00000379690:S6L;ENSP00000445669:S6L	ENSP00000243639:S59L	S	-	2	0	ZNF468	58037183	0.000000	0.05858	0.011000	0.14972	0.235000	0.25334	-0.773000	0.04689	0.001000	0.14605	0.174000	0.16983	TCG		0.368	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1		NM_001008801	
AQP1	358	broad.mit.edu	37	7	30963232	30963232	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr7:30963232G>A	ENST00000311813.4	+	4	853	c.798G>A	c.(796-798)atG>atA	p.M266I	AQP1_ENST00000441328.2_Missense_Mutation_p.M183I|AQP1_ENST00000409899.1_Missense_Mutation_p.M151I|AQP1_ENST00000409611.1_Missense_Mutation_p.M215I|AQP1_ENST00000509504.1_Missense_Mutation_p.M443I|AQP1_ENST00000434909.2_Missense_Mutation_p.M326I|AQP1_ENST00000482461.1_3'UTR	NM_198098.2	NP_932766.1	P29972	AQP1_HUMAN	aquaporin 1 (Colton blood group)	266					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|camera-type eye morphogenesis (GO:0048593)|carbon dioxide transmembrane transport (GO:0035378)|carbon dioxide transport (GO:0015670)|cation transmembrane transport (GO:0098655)|cell volume homeostasis (GO:0006884)|cellular homeostasis (GO:0019725)|cellular hyperosmotic response (GO:0071474)|cellular response to cAMP (GO:0071320)|cellular response to copper ion (GO:0071280)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to inorganic substance (GO:0071241)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mercury ion (GO:0071288)|cellular response to nitric oxide (GO:0071732)|cellular response to retinoic acid (GO:0071300)|cellular response to salt stress (GO:0071472)|cellular response to stress (GO:0033554)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|cGMP biosynthetic process (GO:0006182)|corticotropin secretion (GO:0051458)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|glomerular filtration (GO:0003094)|glycerol transport (GO:0015793)|hyperosmotic salinity response (GO:0042538)|lateral ventricle development (GO:0021670)|lipid digestion (GO:0044241)|maintenance of symbiont-containing vacuole by host (GO:0085018)|metanephric descending thin limb development (GO:0072220)|metanephric glomerulus vasculature development (GO:0072239)|metanephric proximal convoluted tubule segment 2 development (GO:0072232)|metanephric proximal straight tubule development (GO:0072230)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|nitric oxide transport (GO:0030185)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|positive regulation of angiogenesis (GO:0045766)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of saliva secretion (GO:0046878)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|renal water absorption (GO:0070295)|renal water transport (GO:0003097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|secretory granule organization (GO:0033363)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)|transepithelial water transport (GO:0035377)|transmembrane transport (GO:0055085)|water transport (GO:0006833)|wound healing (GO:0042060)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|symbiont-containing vacuole (GO:0020003)	ammonium transmembrane transporter activity (GO:0008519)|carbon dioxide transmembrane transporter activity (GO:0035379)|glycerol transmembrane transporter activity (GO:0015168)|intracellular cGMP activated cation channel activity (GO:0005223)|nitric oxide transmembrane transporter activity (GO:0030184)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)|transmembrane transporter activity (GO:0022857)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.M266I(1)|p.M183I(1)		kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)			Acetazolamide(DB00819)	GGGTGGAGATGAAGCCCAAAT	0.632																																																	2	Substitution - Missense(2)	kidney(2)											34.0	31.0	32.0					7																	30963232		2203	4300	6503	SO:0001583	missense	358			M77829	CCDS5431.1, CCDS55096.1, CCDS55097.1, CCDS55098.1	7p14	2014-07-19	2014-01-02		ENSG00000240583	ENSG00000240583		"""Ion channels / Aquaporins"", ""Blood group antigens"""	633	protein-coding gene	gene with protein product		107776	"""Colton blood group"", ""aquaporin 1 (channel-forming integral protein, 28kDa)"", ""aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)"", ""aquaporin 1"""	CO		1722319, 3166547	Standard	NM_198098		Approved	CHIP28		P29972	OTTHUMG00000023944	ENST00000311813.4:c.798G>A	7.37:g.30963232G>A	ENSP00000311165:p.Met266Ile	Somatic		WXS	Illumina GAIIx	Phase_I	B5BU39|E7EM69|E9PC21|F5GY19|Q8TBI5|Q8TDC1	Missense_Mutation	SNP	ENST00000311813.4	37	CCDS5431.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277496	0.80580	.	.	ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000250424	ENST00000434909;ENST00000311813;ENST00000413400;ENST00000441328;ENST00000409899;ENST00000409611;ENST00000509504	D;D;D;D;D;D	0.93859	-2.23;-1.93;-2.92;-3.3;-2.96;-2.23	5.13	5.13	0.70059	.	0.090708	0.85682	D	0.000000	D	0.95108	0.8415	L	0.59436	1.845	0.51233	D	0.999919	P;P;P;P	0.50528	0.936;0.936;0.851;0.936	P;P;P;P	0.61201	0.885;0.885;0.838;0.885	D	0.95283	0.8388	10	0.66056	D	0.02	-32.5721	14.1046	0.65080	0.0:0.0:1.0:0.0	.	326;215;151;266	B4E220;E7EM69;E9PC21;P29972	.;.;.;AQP1_HUMAN	I	326;266;251;183;151;215;443	ENSP00000395059:M326I;ENSP00000311165:M266I;ENSP00000405698:M183I;ENSP00000386712:M151I;ENSP00000387178:M215I;ENSP00000421315:M443I	ENSP00000311165:M266I	M	+	3	0	RP5-877J2.1;AQP1	30929757	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.393000	0.90182	2.381000	0.81170	0.549000	0.68633	ATG		0.632	AQP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215002.3		NM_000385	
ZNF800	168850	broad.mit.edu;hgsc.bcm.edu	37	7	127013601	127013601	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr7:127013601T>C	ENST00000393313.1	-	5	2380	c.1789A>G	c.(1789-1791)Agt>Ggt	p.S597G	ZNF800_ENST00000393312.1_Missense_Mutation_p.S597G|ZNF800_ENST00000265827.3_Missense_Mutation_p.S597G|ZNF800_ENST00000485577.1_5'UTR			Q2TB10	ZN800_HUMAN	zinc finger protein 800	597					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.S597G(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TACTTTTTACTAGGAGAGTTA	0.363																																																	2	Substitution - Missense(2)	kidney(2)											138.0	139.0	139.0					7																	127013601		2203	4300	6503	SO:0001583	missense	168850			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1789A>G	7.37:g.127013601T>C	ENSP00000376989:p.Ser597Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	T	5.514	0.279858	0.10458	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	T;T;T	0.15487	2.42;2.42;2.42	5.7	4.56	0.56223	.	0.321794	0.34777	N	0.003685	T	0.09468	0.0233	N	0.08118	0	0.27545	N	0.950686	B;B	0.20261	0.043;0.043	B;B	0.19946	0.027;0.027	T	0.08659	-1.0711	9	0.44086	T	0.13	-17.7245	10.6978	0.45909	0.0:0.0743:0.0:0.9257	.	500;597	B7Z4V7;Q2TB10	.;ZN800_HUMAN	G	597	ENSP00000376989:S597G;ENSP00000265827:S597G;ENSP00000376988:S597G	ENSP00000265827:S597G	S	-	1	0	ZNF800	126800837	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.513000	0.53414	1.003000	0.39130	0.533000	0.62120	AGT		0.363	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1		NM_176814	
FAM208A	23272	broad.mit.edu	37	3	56703746	56703746	+	Silent	SNP	A	A	C	rs13094666	byFrequency	TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr3:56703746A>C	ENST00000493960.2	-	5	727	c.717T>G	c.(715-717)gtT>gtG	p.V239V	FAM208A_ENST00000355628.5_Silent_p.V239V	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	239							poly(A) RNA binding (GO:0044822)	p.V239V(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TTTTAAAAATAACAACATCAC	0.318													A|||	1864	0.372204	0.3964	0.4885	5008	,	,		16006	0.4613		0.2803	False		,,,				2504	0.2597																1	Substitution - coding silent(1)	kidney(1)						A		536,848		109,318,265	60.0	55.0	57.0		717	4.1	1.0	3	dbSNP_121	57	931,2249		136,659,795	no	coding-synonymous	FAM208A	NM_001112736.1		245,977,1060	CC,CA,AA		29.2767,38.7283,32.1429		239/1513	56703746	1467,3097	692	1590	2282	SO:0001819	synonymous_variant	0			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.717T>G	3.37:g.56703746A>C		Somatic		WXS	Illumina GAIIx	Phase_I	A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Silent	SNP	ENST00000493960.2	37	CCDS46853.1																																																																																				0.318	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2		NM_015224	
CTNNA2	1496	broad.mit.edu	37	2	80136761	80136761	+	Silent	SNP	G	G	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr2:80136761G>A	ENST00000402739.4	+	6	899	c.894G>A	c.(892-894)agG>agA	p.R298R	CTNNA2_ENST00000496558.1_Silent_p.R298R|CTNNA2_ENST00000540488.1_Silent_p.R298R|CTNNA2_ENST00000541047.1_Silent_p.R298R|CTNNA2_ENST00000361291.4_Silent_p.R332R|CTNNA2_ENST00000466387.1_Silent_p.R298R	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	298					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.R298R(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCGAGGCCAGGTTCCGGCCGT	0.587																																																	2	Substitution - coding silent(2)	kidney(2)											61.0	65.0	64.0					2																	80136761		1982	4194	6176	SO:0001819	synonymous_variant	1496				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.894G>A	2.37:g.80136761G>A		Somatic		WXS	Illumina GAIIx	Phase_I	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37																																																																																					0.587	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4		NM_004389	
DIO3	1735	broad.mit.edu	37	14	102028537	102028537	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr14:102028537G>T	ENST00000510508.4	+	1	850	c.704G>T	c.(703-705)gGt>gTt	p.G235V	DIO3_ENST00000359323.3_Missense_Mutation_p.G209V|DIO3OS_ENST00000408206.1_lincRNA			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	235					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)	p.G235V(1)|p.G209V(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CTGCAGCAAGGTGCACCCGGC	0.647																																																	2	Substitution - Missense(2)	kidney(2)											60.0	69.0	66.0					14																	102028537		2132	4226	6358	SO:0001583	missense	1735			S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.704G>T	14.37:g.102028537G>T	ENSP00000427336:p.Gly235Val	Somatic		WXS	Illumina GAIIx	Phase_I	G3XAM0|Q8WVN5	Missense_Mutation	SNP	ENST00000510508.4	37	CCDS41992.2	.	.	.	.	.	.	.	.	.	.	G	9.727	1.161174	0.21538	.	.	ENSG00000197406;ENSG00000258865	ENST00000359323;ENST00000510508	T;T	0.33654	1.4;1.4	3.86	3.86	0.44501	.	0.091423	0.43416	U	0.000575	T	0.51261	0.1664	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	D	0.68621	0.959	T	0.44787	-0.9305	10	0.15952	T	0.53	.	14.9928	0.71401	0.0:0.0:1.0:0.0	.	209	P55073	IOD3_HUMAN	V	209;235	ENSP00000352273:G209V;ENSP00000427336:G235V	ENSP00000352273:G235V	G	+	2	0	DIO3;AL049836.1	101098290	1.000000	0.71417	0.828000	0.32881	0.079000	0.17450	4.536000	0.60636	1.998000	0.58463	0.462000	0.41574	GGT		0.647	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4		NM_001362	
FRMPD1	22844	broad.mit.edu	37	9	37746529	37746529	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr9:37746529delG	ENST00000539465.1	+	16	5093	c.4500delG	c.(4498-4500)ctgfs	p.L1500fs	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Frame_Shift_Del_p.L1500fs			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1500						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TGGTCCAGCTGGCCGGCCTGT	0.622																																																	0													33.0	35.0	35.0					9																	37746529		2203	4300	6503	SO:0001589	frameshift_variant	22844			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.4500delG	9.37:g.37746529delG	ENSP00000444411:p.Leu1500fs	Somatic		WXS	Illumina GAIIx	Phase_I	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Frame_Shift_Del	DEL	ENST00000539465.1	37	CCDS6612.1																																																																																				0.622	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1		NM_014907	
C5AR2	27202	broad.mit.edu	37	19	47844249	47844249	+	Missense_Mutation	SNP	C	C	T	rs144687097		TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr19:47844249C>T	ENST00000595464.1	+	2	411	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	C5AR2_ENST00000257267.2_Missense_Mutation_p.R65C|C5AR2_ENST00000600626.1_Missense_Mutation_p.R65C	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	65					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)	p.R65C(1)									GAAGGTGGCCCGCCGGAGGGT	0.692													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15354	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)						C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	71.0	73.0	72.0		193	-0.8	0.0	19	dbSNP_134	72	0,8596		0,0,4298	no	missense	GPR77	NM_018485.1	180	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	65/338	47844249	1,13001	2203	4298	6501	SO:0001583	missense	27202			AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"""GPCR / Class A : Complement component receptors"""	4527	protein-coding gene	gene with protein product		609949	"""G protein-coupled receptor 77"""	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.193C>T	19.37:g.47844249C>T	ENSP00000472620:p.Arg65Cys	Somatic		WXS	Illumina GAIIx	Phase_I	B2RA09	Missense_Mutation	SNP	ENST00000595464.1	37	CCDS12699.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.731504	0.48939	2.27E-4	0.0	ENSG00000134830	ENST00000257267	T	0.39592	1.07	4.22	-0.829	0.10796	GPCR, rhodopsin-like superfamily (1);	0.225303	0.38326	U	0.001731	T	0.57562	0.2062	M	0.86343	2.81	0.09310	N	1	D	0.89917	1.0	D	0.68621	0.959	T	0.50101	-0.8867	10	0.87932	D	0	.	2.8803	0.05645	0.4169:0.3477:0.143:0.0924	.	65	Q9P296	C5ARL_HUMAN	C	65	ENSP00000257267:R65C	ENSP00000257267:R65C	R	+	1	0	GPR77	52536089	0.000000	0.05858	0.001000	0.08648	0.826000	0.46750	-4.049000	0.00305	-0.215000	0.10063	0.462000	0.41574	CGC		0.692	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466926.1		NM_018485	
KIAA1522	57648	broad.mit.edu	37	1	33236584	33236584	+	Missense_Mutation	SNP	C	C	T	rs376519951		TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr1:33236584C>T	ENST00000373480.1	+	6	1730	c.1627C>T	c.(1627-1629)Cct>Tct	p.P543S	KIAA1522_ENST00000401073.2_Missense_Mutation_p.P602S|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.P554S	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	543	Pro-rich.							p.P602S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GGCAGGTCCCCCTGCTTCCCC	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		10353	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											54.0	58.0	57.0					1																	33236584		1902	4091	5993	SO:0001583	missense	57648			AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.1627C>T	1.37:g.33236584C>T	ENSP00000362579:p.Pro543Ser	Somatic		WXS	Illumina GAIIx	Phase_I	B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370469	0.24771	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.11385	2.81;2.78;2.81	3.9	2.98	0.34508	.	0.349370	0.24269	N	0.040004	T	0.10766	0.0263	L	0.43152	1.355	0.41384	D	0.987572	P;P;P	0.50943	0.713;0.94;0.865	B;P;B	0.47015	0.303;0.534;0.391	T	0.25882	-1.0119	10	0.15499	T	0.54	-8.3757	8.3567	0.32335	0.0:0.6992:0.2046:0.0962	.	554;543;602	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	S	602;554;543	ENSP00000383851:P602S;ENSP00000362580:P554S;ENSP00000362579:P543S	ENSP00000362579:P543S	P	+	1	0	KIAA1522	33009171	0.990000	0.36364	1.000000	0.80357	0.978000	0.69477	2.901000	0.48695	0.968000	0.38212	0.462000	0.41574	CCT		0.647	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			
KLF9	687	broad.mit.edu	37	9	73027890	73027890	+	Silent	SNP	T	T	C			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr9:73027890T>C	ENST00000377126.2	-	1	1650	c.390A>G	c.(388-390)ggA>ggG	p.G130G		NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN	Kruppel-like factor 9	130					cellular response to thyroid hormone stimulus (GO:0097067)|embryo implantation (GO:0007566)|progesterone receptor signaling pathway (GO:0050847)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G130G(1)		endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						TCGCAGCCACTCCAGGATGGA	0.607																																																	1	Substitution - coding silent(1)	kidney(1)											86.0	91.0	90.0					9																	73027890		2203	4300	6503	SO:0001819	synonymous_variant	687			BC069431	CCDS6633.1	9q21.11	2013-01-08	2004-11-29	2004-12-01	ENSG00000119138	ENSG00000119138		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	1123	protein-coding gene	gene with protein product		602902	"""basic transcription element binding protein 1"""	BTEB1		1356762	Standard	NM_001206		Approved		uc004aht.3	Q13886	OTTHUMG00000019991	ENST00000377126.2:c.390A>G	9.37:g.73027890T>C		Somatic		WXS	Illumina GAIIx	Phase_I	B2R943|Q16196	Silent	SNP	ENST00000377126.2	37	CCDS6633.1																																																																																				0.607	KLF9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052602.1		NM_001206	
RRP1	8568	broad.mit.edu	37	21	45225896	45225896	+	IGR	DEL	T	T	-			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr21:45225896delT	ENST00000497547.1	+	0	3022				AP001053.11_ENST00000400385.2_RNA|AP001053.11_ENST00000437258.1_RNA|AP001053.11_ENST00000448247.1_RNA	NM_003683.5	NP_003674.1	P05386	RLA1_HUMAN	ribosomal RNA processing 1						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		cacagtcaactttagaccatt	0.517																																																	0																																										SO:0001628	intergenic_variant	284837			U79775	CCDS42951.1	21q22.3	2013-07-02	2013-07-02		ENSG00000160214	ENSG00000160214			18785	protein-coding gene	gene with protein product	"""DNA segment on chromosome 21 (unique) 2056 expressed sequence"", ""Nnp1 homolog, nucleolar protein (Drosophila)"""	610653	"""ribosomal RNA processing 1 homolog (S. cerevisiae)"""			10830953, 10341208	Standard	NM_003683		Approved	NNP-1, Nop52, NOP52, RRP1A, D21S2056E	uc002zds.2	P56182	OTTHUMG00000086884		21.37:g.45225896delT		Somatic		WXS	Illumina GAIIx	Phase_I	A6NIB2	RNA	DEL	ENST00000497547.1	37	CCDS42951.1																																																																																				0.517	RRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195680.1		NM_003683	
LOC401010	401010	broad.mit.edu	37	2	132201889	132201889	+	IGR	SNP	C	C	A	rs2007096	byFrequency	TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr2:132201889C>A								AC073869.19 (35267 upstream) : RP11-109E12.1 (17504 downstream)																							GGCCTCAGCACTTTCCTGGTC	0.542													.|||	1941	0.38758	0.2035	0.5259	5008	,	,		18924	0.7589		0.2326	False		,,,				2504	0.3149																0																																										SO:0001628	intergenic_variant	401010																															2.37:g.132201889C>A		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP		37																																																																																				0	0.542									
MUC4	4585	broad.mit.edu	37	3	195513812	195513812	+	Missense_Mutation	SNP	T	T	A	rs201142885	byFrequency	TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr3:195513812T>A	ENST00000463781.3	-	2	5098	c.4639A>T	c.(4639-4641)Aca>Tca	p.T1547S	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T1547S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.M1535_T1550delMPLPVTSPSSASTGDT(4)|p.T1547S(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGTCACCTGTGGATGCTGAG	0.582																																																	5	Deletion - In frame(4)|Substitution - Missense(1)	stomach(4)|kidney(1)																																								SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.4639A>T	3.37:g.195513812T>A	ENSP00000417498:p.Thr1547Ser	Somatic		WXS	Illumina GAIIx	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	6.021	0.372220	0.11409	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32272	1.48;1.46	0.844	-0.658	0.11428	.	.	.	.	.	T	0.22437	0.0541	N	0.19112	0.55	0.09310	N	1	P	0.46578	0.88	P	0.50270	0.636	T	0.13764	-1.0497	8	.	.	.	.	3.6421	0.08170	0.0:0.3306:0.0:0.6694	.	1547	E7ESK3	.	S	1547	ENSP00000417498:T1547S;ENSP00000420243:T1547S	.	T	-	1	0	MUC4	196998207	0.034000	0.19679	0.062000	0.19696	0.063000	0.16089	-0.041000	0.12084	0.077000	0.16863	0.076000	0.15429	ACA		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
EFCAB8	388795	broad.mit.edu	37	20	31497682	31497682	+	IGR	SNP	G	G	T	rs78951406	byFrequency	TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr20:31497682G>T								EFCAB8 (3003 upstream) : EFCAB8 (7183 downstream)																							GCAAGGAAGAGGACCACTCAT	0.562													G|||	165	0.0329473	0.0461	0.0072	5008	,	,		20216	0.0595		0.0099	False		,,,				2504	0.0297																0								G	MET/ARG	66,1318		1,64,627	109.0	96.0	100.0		1637	-1.8	0.0	20	dbSNP_132	100	11,3171		0,11,1580	no	missense	EFCAB8	XM_003118799.2	91	1,75,2207	TT,TG,GG		0.3457,4.7688,1.6864		546/1340	31497682	77,4489	692	1591	2283	SO:0001628	intergenic_variant	0																															20.37:g.31497682G>T		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP		37																																																																																				0	0.562									
ZNF736	728927	broad.mit.edu	37	7	63816325	63816325	+	IGR	DEL	G	G	-			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr7:63816325delG	ENST00000423484.2	+	0	7119							B4DX44	ZN736_HUMAN	zinc finger protein 736						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(6)|stomach(1)|urinary_tract(1)	9						GGGTTGATTTGGGGGCAATTG	0.428																																																	0																																										SO:0001628	intergenic_variant	0				CCDS55114.1	7q11.21	2013-01-08			ENSG00000234444	ENSG00000234444		"""Zinc fingers, C2H2-type"", ""-"""	32467	protein-coding gene	gene with protein product							Standard	XM_006716104		Approved		uc011kdo.2	B4DX44	OTTHUMG00000156537		7.37:g.63816325delG		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	DEL	ENST00000423484.2	37	CCDS55114.1																																																																																				0.428	ZNF736-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000344559.2		NM_001170905	
