#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_EVS_AA	i_EVS_All	i_EVS_EA	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_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCB1	5243	genome.wustl.edu	37	7	87148753	87148753	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A1F0-01A-11D-A135-09	TCGA-BH-A1F0-11B-23D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3903b485-366d-4318-b17d-a0194f032bd8	64613d52-ad24-4f06-8668-3e058043911b	g.chr7:87148753C>G	ENST00000265724.3	-	24	3233	c.2816G>C	c.(2815-2817)gGa>gCa	p.G939A	ABCB1_ENST00000543898.1_Missense_Mutation_p.G875A|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	939	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	AAATGTAATTCCAAAGATGTG	0.378																																						dbGAP											0													85.0	82.0	83.0					7																	87148753		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.2816G>C	7.37:g.87148753C>G	ENSP00000265724:p.Gly939Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.G939A	ENST00000265724.3	37	c.2816	CCDS5608.1	7	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957655	0.92726	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.89485	-2.52;-2.52	5.79	5.79	0.91817	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.94843	0.8334	M	0.81239	2.535	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.75020	0.851;0.985	D	0.94492	0.7702	10	0.59425	D	0.04	-14.9342	20.0366	0.97561	0.0:1.0:0.0:0.0	.	875;939	B5AK60;P08183	.;MDR1_HUMAN	A	720;939;875	ENSP00000265724:G939A;ENSP00000444095:G875A	ENSP00000265724:G939A	G	-	2	0	ABCB1	86986689	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.660000	0.83776	2.736000	0.93811	0.561000	0.74099	GGA	ABCB1	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000085563		0.378	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2	236	0.00	0	C	NM_000927		87148753	87148753	-1	no_errors	ENST00000265724	ensembl	human	known	69_37n	missense	218	11.74	29	SNP	1.000	G
ACOT2	10965	genome.wustl.edu	37	14	74042189	74042189	+	Missense_Mutation	SNP	A	A	G	rs7494	byFrequency	TCGA-BH-A1F0-01A-11D-A135-09	TCGA-BH-A1F0-11B-23D-A135-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3903b485-366d-4318-b17d-a0194f032bd8	64613d52-ad24-4f06-8668-3e058043911b	g.chr14:74042189A>G	ENST00000238651.5	+	3	1606	c.1424A>G	c.(1423-1425)cAc>cGc	p.H475R	ACOT2_ENST00000538782.1_Missense_Mutation_p.H278R	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	475			H -> R (in dbSNP:rs7494). {ECO:0000269|PubMed:10944470, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4}.		acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		TTGGGTGGCCACGAGGGGACA	0.478																																						dbGAP											0													26.0	35.0	32.0					14																	74042189		1878	3779	5657	-	-	-	SO:0001583	missense	0			AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"""Acyl CoA thioesterases"""	18431	protein-coding gene	gene with protein product	"""mitochondrial acyl-CoA thioesterase 1"""	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.1424A>G	14.37:g.74042189A>G	ENSP00000238651:p.His475Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3I5F8|Q53EK4|Q9NUX4	Missense_Mutation	SNP	pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	p.H475R	ENST00000238651.5	37	c.1424	CCDS9816.1	14	950	0.434981684981685	109	0.22154471544715448	160	0.4419889502762431	459	0.8024475524475524	222	0.2928759894459103	A	4.955	0.177425	0.09443	.	.	ENSG00000119673	ENST00000538782;ENST00000238651	T;T	0.39406	2.36;1.08	3.47	0.9	0.19278	.	1.633630	0.03548	N	0.225068	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.37197	-0.9716	9	0.17832	T	0.49	10.0461	2.9076	0.05726	0.6566:0.0:0.1285:0.2148	rs7494;rs3174638;rs3742820	413;475;278	E9KL42;P49753;B3KSA0	.;ACOT2_HUMAN;.	R	278;475	ENSP00000440961:H278R;ENSP00000238651:H475R	ENSP00000238651:H475R	H	+	2	0	ACOT2	73111942	0.000000	0.05858	0.003000	0.11579	0.104000	0.19210	-0.054000	0.11826	-0.144000	0.11314	-0.558000	0.04189	CAC	ACOT2	-	pirsf_Acyl-CoA_thioEstase_long-chain	ENSG00000119673		0.478	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT2	HGNC	protein_coding	OTTHUMT00000414435.1	9	0.00	0	A	NM_006821		74042189	74042189	+1	no_errors	ENST00000238651	ensembl	human	known	69_37n	missense	16	36.00	9	SNP	0.000	G
ANKRD24	170961	genome.wustl.edu	37	19	4217300	4217300	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1F0-01A-11D-A135-09	TCGA-BH-A1F0-11B-23D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3903b485-366d-4318-b17d-a0194f032bd8	64613d52-ad24-4f06-8668-3e058043911b	g.chr19:4217300G>A	ENST00000600132.1	+	18	2419	c.2143G>A	c.(2143-2145)Gca>Aca	p.A715T	ANKRD24_ENST00000318934.4_Missense_Mutation_p.A715T|ANKRD24_ENST00000262970.5_Missense_Mutation_p.A805T	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	715										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TCCTGGTGCCGCAGAGGCCTC	0.642																																						dbGAP											0													12.0	15.0	14.0					19																	4217300		2013	4112	6125	-	-	-	SO:0001583	missense	0			AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.2143G>A	19.37:g.4217300G>A	ENSP00000471252:p.Ala715Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O75268|O95781	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A805T	ENST00000600132.1	37	c.2413	CCDS45925.1	19	.	.	.	.	.	.	.	.	.	.	g	17.63	3.436827	0.62955	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.59638	0.3;0.25	3.93	3.93	0.45458	.	0.279498	0.19150	U	0.121474	T	0.49372	0.1553	N	0.11560	0.145	0.09310	N	1	D;D	0.89917	0.999;1.0	P;D	0.69307	0.875;0.963	T	0.38436	-0.9661	10	0.06099	T	0.92	-14.6729	10.4574	0.44559	0.0:0.0:0.8048:0.1952	.	715;805	Q8TF21;Q8TF21-2	ANR24_HUMAN;.	T	715;805	ENSP00000321731:A715T;ENSP00000262970:A805T	ENSP00000262970:A805T	A	+	1	0	ANKRD24	4168300	0.002000	0.14202	0.063000	0.19743	0.211000	0.24417	1.015000	0.29963	2.193000	0.70182	0.407000	0.27541	GCA	ANKRD24	-	NULL	ENSG00000089847		0.642	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKRD24	HGNC	protein_coding	OTTHUMT00000458188.1	37	0.00	0	G	XM_114000		4217300	4217300	+1	no_errors	ENST00000262970	ensembl	human	known	69_37n	missense	34	12.82	5	SNP	0.232	A
ASXL2	55252	genome.wustl.edu	37	2	25967231	25967231	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F0-01A-11D-A135-09	TCGA-BH-A1F0-11B-23D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3903b485-366d-4318-b17d-a0194f032bd8	64613d52-ad24-4f06-8668-3e058043911b	g.chr2:25967231C>T	ENST00000435504.4	-	13	2268	c.1975G>A	c.(1975-1977)Gac>Aac	p.D659N	ASXL2_ENST00000404843.1_Missense_Mutation_p.D399N|ASXL2_ENST00000272341.4_Missense_Mutation_p.D399N|ASXL2_ENST00000336112.4_Missense_Mutation_p.D631N			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	659	Ala-rich.				adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTTTGATGTCTGCAAGAGTT	0.577																																						dbGAP											0													67.0	62.0	64.0					2																	25967231		1876	4110	5986	-	-	-	SO:0001583	missense	0					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.1975G>A	2.37:g.25967231C>T	ENSP00000391447:p.Asp659Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.D659N	ENST00000435504.4	37	c.1975		2	.	.	.	.	.	.	.	.	.	.	C	24.9	4.576585	0.86645	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.94	5.94	0.96194	.	0.094319	0.64402	D	0.000001	T	0.73225	0.3560	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.69094	-0.5236	10	0.33940	T	0.23	-21.2873	18.9232	0.92534	0.0:1.0:0.0:0.0	.	399;659	Q76L83-2;Q76L83	.;ASXL2_HUMAN	N	659;631;399;399	ENSP00000391447:D659N;ENSP00000337250:D631N;ENSP00000383920:D399N;ENSP00000272341:D399N	ENSP00000272341:D399N	D	-	1	0	ASXL2	25820735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.405000	0.66351	2.816000	0.96949	0.563000	0.77884	GAC	ASXL2	-	NULL	ENSG00000143970		0.577	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	243	0.00	0	C	NM_018263		25967231	25967231	-1	no_errors	ENST00000435504	ensembl	human	known	69_37n	missense	174	13.79	28	SNP	1.000	T
BCAR3	8412	genome.wustl.edu	37	1	94048116	94048116	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A1F0-01A-11D-A135-09	TCGA-BH-A1F0-11B-23D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3903b485-366d-4318-b17d-a0194f032bd8	64613d52-ad24-4f06-8668-3e058043911b	g.chr1:94048116C>G	ENST00000370244.1	-	9	1716	c.1428G>C	c.(1426-1428)ttG>ttC	p.L476F	BCAR3_ENST00000466632.1_5'UTR|BCAR3_ENST00000370243.1_Missense_Mutation_p.L476F|BCAR3_ENST00000539242.1_Missense_Mutation_p.L152F|BCAR3_ENST00000370247.3_Missense_Mutation_p.L385F|BCAR3_ENST00000260502.6_Missense_Mutation_p.L476F	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	476					lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		catcaaggatcaagtagttga	0.582																																						dbGAP											0													66.0	55.0	59.0					1																	94048116		2203	4300	6503	-	-	-	SO:0001583	missense	0			U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.1428G>C	1.37:g.94048116C>G	ENSP00000359264:p.Leu476Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25	p.L476F	ENST00000370244.1	37	c.1428	CCDS745.1	1	.	.	.	.	.	.	.	.	.	.	C	9.899	1.206301	0.22205	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.25085	1.98;1.97;1.97;1.97;1.82	5.31	4.39	0.52855	.	1.284730	0.04854	N	0.442897	T	0.12817	0.0311	M	0.63428	1.95	0.33554	D	0.596538	P;P;P	0.39216	0.664;0.528;0.468	B;B;B	0.37304	0.246;0.116;0.125	T	0.31081	-0.9956	10	0.09590	T	0.72	-18.9796	11.1157	0.48259	0.1446:0.7163:0.1391:0.0	.	256;476;385	B3KNL6;O75815;Q5TEW3	.;BCAR3_HUMAN;.	F	385;476;476;476;152	ENSP00000359267:L385F;ENSP00000260502:L476F;ENSP00000359264:L476F;ENSP00000359263:L476F;ENSP00000441343:L152F	ENSP00000260502:L476F	L	-	3	2	BCAR3	93820704	0.998000	0.40836	0.994000	0.49952	0.349000	0.29174	2.028000	0.41088	1.469000	0.48083	-0.176000	0.13171	TTG	BCAR3	-	NULL	ENSG00000137936		0.582	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCAR3	HGNC	protein_coding	OTTHUMT00000028420.1	227	0.00	0	C			94048116	94048116	-1	no_errors	ENST00000260502	ensembl	human	known	69_37n	missense	192	11.11	24	SNP	1.000	G
CR1	1378	genome.wustl.edu	37	1	207796386	207796386	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A1F0-01A-11D-A135-09	TCGA-BH-A1F0-11B-23D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3903b485-366d-4318-b17d-a0194f032bd8	64613d52-ad24-4f06-8668-3e058043911b	g.chr1:207796386C>A	ENST00000367049.4	+	45	7325	c.7325C>A	c.(7324-7326)tCt>tAt	p.S2442Y	CR1_ENST00000400960.2_Missense_Mutation_p.S1992Y|CR1_ENST00000367051.1_Missense_Mutation_p.S1992Y|CR1_ENST00000367053.1_Missense_Mutation_p.S1992Y|CR1_ENST00000367052.1_Missense_Mutation_p.S1992Y	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1992					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATTTTCCTCTCTTGGATAATT	0.333																																						dbGAP											0													136.0	115.0	121.0					1																	207796386		1816	4078	5894	-	-	-	SO:0001583	missense	0			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.7325C>A	1.37:g.207796386C>A	ENSP00000356016:p.Ser2442Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.S2442Y	ENST00000367049.4	37	c.7325	CCDS44308.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.88|11.88	1.771268|1.771268	0.31320|0.31320	.|.	.|.	ENSG00000203710|ENSG00000203710	ENST00000529814|ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	.|T;T;T;T;T	.|0.32272	.|1.46;1.58;1.46;1.46;1.47	3.97|3.97	-5.68|-5.68	0.02436|0.02436	.|.	.|.	.|.	.|.	.|.	T|T	0.07683|0.07683	0.0193|0.0193	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|P;B	.|0.46277	.|0.875;0.001	.|B;B	.|0.38378	.|0.272;0.0	T|T	0.31447|0.31447	-0.9943|-0.9943	5|9	.|0.02654	.|T	.|1	.|.	0.3449|0.3449	0.00339|0.00339	0.2873:0.1327:0.2121:0.368|0.2873:0.1327:0.2121:0.368	rs56226125|rs56226125	.|1992;2442	.|P17927;E9PDY4	.|CR1_HUMAN;.	I|Y	615|1992;1992;1992;1992;2442	.|ENSP00000356019:S1992Y;ENSP00000356018:S1992Y;ENSP00000356020:S1992Y;ENSP00000383744:S1992Y;ENSP00000356016:S2442Y	.|ENSP00000356016:S2442Y	L|S	+|+	1|2	0|0	CR1|CR1	205863009|205863009	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.053000|0.053000	0.15095|0.15095	-0.840000|-0.840000	0.04363|0.04363	-0.985000|-0.985000	0.03503|0.03503	-0.447000|-0.447000	0.05616|0.05616	CTT|TCT	CR1	-	NULL	ENSG00000203710		0.333	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1	HGNC	protein_coding	OTTHUMT00000382527.1	709	0.00	0	C	NM_000573		207796386	207796386	+1	no_errors	ENST00000367049	ensembl	human	known	69_37n	missense	589	21.68	163	SNP	0.000	A
CREBRF	153222	genome.wustl.edu	37	5	172535710	172535710	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A1F0-01A-11D-A135-09	TCGA-BH-A1F0-11B-23D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3903b485-366d-4318-b17d-a0194f032bd8	64613d52-ad24-4f06-8668-3e058043911b	g.chr5:172535710G>C	ENST00000296953.2	+	5	1625	c.1306G>C	c.(1306-1308)Gag>Cag	p.E436Q	CREBRF_ENST00000540014.1_Missense_Mutation_p.E436Q	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	436					negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										ATACTTCTGGGAGTATAGTGA	0.408																																						dbGAP											0													117.0	110.0	112.0					5																	172535710		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"""luman/CREB3 recruitment factor"""		"""chromosome 5 open reading frame 41"""	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.1306G>C	5.37:g.172535710G>C	ENSP00000296953:p.Glu436Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Missense_Mutation	SNP	NULL	p.E436Q	ENST00000296953.2	37	c.1306	CCDS34293.1	5	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225409	0.79576	.	.	ENSG00000164463	ENST00000296953;ENST00000540014;ENST00000538538;ENST00000393776	T;T	0.23348	1.91;1.91	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.32526	0.0832	N	0.16307	0.4	0.80722	D	1	D	0.67145	0.996	D	0.75484	0.986	T	0.02713	-1.1120	10	0.05833	T	0.94	.	19.3859	0.94556	0.0:0.0:1.0:0.0	.	436	Q8IUR6	CE041_HUMAN	Q	436	ENSP00000296953:E436Q;ENSP00000440075:E436Q	ENSP00000296953:E436Q	E	+	1	0	C5orf41	172468316	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.400000	0.97290	2.583000	0.87209	0.585000	0.79938	GAG	CREBRF	-	NULL	ENSG00000164463		0.408	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBRF	HGNC	protein_coding	OTTHUMT00000372667.1	188	0.00	0	G	NM_153607		172535710	172535710	+1	no_errors	ENST00000540014	ensembl	human	known	69_37n	missense	194	13.33	30	SNP	1.000	C
ELTD1	64123	genome.wustl.edu	37	1	79357327	79357327	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A1F0-01A-11D-A135-09	TCGA-BH-A1F0-11B-23D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3903b485-366d-4318-b17d-a0194f032bd8	64613d52-ad24-4f06-8668-3e058043911b	g.chr1:79357327C>T	ENST00000370742.3	-	14	1955	c.1892G>A	c.(1891-1893)tGg>tAg	p.W631*		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	631					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CCCAAAGATCCAGGTGGTGCC	0.468																																						dbGAP											0													64.0	65.0	64.0					1																	79357327		1968	4143	6111	-	-	-	SO:0001587	stop_gained	0			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1892G>A	1.37:g.79357327C>T	ENSP00000359778:p.Trp631*	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AR71|Q5KU34	Nonsense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd,smart_EGF-like,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.W631*	ENST00000370742.3	37	c.1892	CCDS41352.1	1	.	.	.	.	.	.	.	.	.	.	C	38	7.153519	0.98099	.	.	ENSG00000162618	ENST00000370742;ENST00000401034	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5833	0.95478	0.0:1.0:0.0:0.0	.	.	.	.	X	631;89	.	.	W	-	2	0	ELTD1	79129915	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.792000	0.85828	2.612000	0.88384	0.655000	0.94253	TGG	ELTD1	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	ENSG00000162618		0.468	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELTD1	HGNC	protein_coding	OTTHUMT00000026859.1	109	0.00	0	C	NM_022159		79357327	79357327	-1	no_errors	ENST00000370742	ensembl	human	known	69_37n	nonsense	96	25.00	32	SNP	1.000	T
GALNT2	2590	genome.wustl.edu	37	1	230384985	230384985	+	Silent	SNP	G	G	A			TCGA-BH-A1F0-01A-11D-A135-09	TCGA-BH-A1F0-11B-23D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3903b485-366d-4318-b17d-a0194f032bd8	64613d52-ad24-4f06-8668-3e058043911b	g.chr1:230384985G>A	ENST00000366672.4	+	9	945	c.873G>A	c.(871-873)agG>agA	p.R291R	GALNT2_ENST00000543760.1_Silent_p.R253R|GALNT2_ENST00000541865.1_Silent_p.R201R	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	291				RR -> SC (in Ref. 1; AA sequence). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				AGCAGAGAAGGTCCCGGCAGG	0.547																																						dbGAP											0													84.0	88.0	87.0					1																	230384985		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.873G>A	1.37:g.230384985G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R291	ENST00000366672.4	37	c.873	CCDS1582.1	1																																																																																			GALNT2	-	pfam_Glyco_trans_2	ENSG00000143641		0.547	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT2	HGNC	protein_coding	OTTHUMT00000092158.1	198	0.00	0	G	NM_004481		230384985	230384985	+1	no_errors	ENST00000366672	ensembl	human	known	69_37n	silent	194	14.54	33	SNP	0.785	A
GPC5	2262	genome.wustl.edu	37	13	92345944	92345944	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1F0-01A-11D-A135-09	TCGA-BH-A1F0-11B-23D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3903b485-366d-4318-b17d-a0194f032bd8	64613d52-ad24-4f06-8668-3e058043911b	g.chr13:92345944G>A	ENST00000377067.3	+	3	1201	c.829G>A	c.(829-831)Gtc>Atc	p.V277I		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	277					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CTGCCTCAATGTCATGCGAGG	0.542																																						dbGAP											0													103.0	91.0	95.0					13																	92345944		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.829G>A	13.37:g.92345944G>A	ENSP00000366267:p.Val277Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R726|O60436|Q9BX27	Missense_Mutation	SNP	pfam_Glypican	p.V277I	ENST00000377067.3	37	c.829	CCDS9468.1	13	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590920	0.46214	.	.	ENSG00000179399	ENST00000377067	T	0.60797	0.16	5.3	3.55	0.40652	Glypican, conserved site (1);	0.118100	0.56097	N	0.000024	T	0.64483	0.2602	M	0.80746	2.51	0.37214	D	0.90494	B	0.24823	0.112	B	0.39840	0.311	T	0.65796	-0.6081	10	0.49607	T	0.09	-0.4648	8.7244	0.34460	0.2469:0.0:0.7531:0.0	.	277	P78333	GPC5_HUMAN	I	277	ENSP00000366267:V277I	ENSP00000366267:V277I	V	+	1	0	GPC5	91143945	1.000000	0.71417	0.206000	0.23566	0.451000	0.32288	3.396000	0.52565	0.616000	0.30141	0.585000	0.79938	GTC	GPC5	-	pfam_Glypican	ENSG00000179399		0.542	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC5	HGNC	protein_coding	OTTHUMT00000045454.1	114	0.00	0	G	NM_004466		92345944	92345944	+1	no_errors	ENST00000377067	ensembl	human	known	69_37n	missense	93	14.68	16	SNP	0.943	A
ITGB8	3696	genome.wustl.edu	37	7	20441487	20441487	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A1F0-01A-11D-A135-09	TCGA-BH-A1F0-11B-23D-A135-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3903b485-366d-4318-b17d-a0194f032bd8	64613d52-ad24-4f06-8668-3e058043911b	g.chr7:20441487A>T	ENST00000222573.4	+	10	2109	c.1425A>T	c.(1423-1425)agA>agT	p.R475S	ITGB8_ENST00000537992.1_Missense_Mutation_p.R340S	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	475	Cysteine-rich tandem repeats.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AGGACAACAGAGGACCTAAAG	0.358																																						dbGAP											0													140.0	143.0	142.0					7																	20441487		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.1425A>T	7.37:g.20441487A>T	ENSP00000222573:p.Arg475Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D133|B4DHD4	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_EGF_extracell,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu	p.R475S	ENST00000222573.4	37	c.1425	CCDS5370.1	7	.	.	.	.	.	.	.	.	.	.	A	3.217	-0.160448	0.06502	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.90069	-2.61;-2.5	5.24	4.08	0.47627	.	0.580298	0.18590	N	0.136741	T	0.77260	0.4104	N	0.13168	0.305	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.56655	-0.7943	10	0.08381	T	0.77	.	12.0425	0.53460	0.8435:0.1565:0.0:0.0	.	475	P26012	ITB8_HUMAN	S	340;475	ENSP00000441561:R340S;ENSP00000222573:R475S	ENSP00000222573:R475S	R	+	3	2	ITGB8	20408012	0.972000	0.33761	0.006000	0.13384	0.745000	0.42441	2.735000	0.47377	1.068000	0.40764	-0.331000	0.08364	AGA	ITGB8	-	pirsf_Integrin_bsu	ENSG00000105855		0.358	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB8	HGNC	protein_coding	OTTHUMT00000059915.3	463	0.00	0	A	NM_002214		20441487	20441487	+1	no_errors	ENST00000222573	ensembl	human	known	69_37n	missense	401	13.76	64	SNP	0.012	T
NT5E	4907	genome.wustl.edu	37	6	86201888	86201888	+	Silent	SNP	T	T	C			TCGA-BH-A1F0-01A-11D-A135-09	TCGA-BH-A1F0-11B-23D-A135-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3903b485-366d-4318-b17d-a0194f032bd8	64613d52-ad24-4f06-8668-3e058043911b	g.chr6:86201888T>C	ENST00000257770.3	+	8	1603	c.1554T>C	c.(1552-1554)caT>caC	p.H518H	NT5E_ENST00000369651.3_Silent_p.H468H	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	518					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	TATTAAGACATGACTCTGGTA	0.453																																					Melanoma(140;797 1765 2035 2752 18208)	dbGAP											0													88.0	84.0	85.0					6																	86201888		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"""CD molecules"""	8021	protein-coding gene	gene with protein product		129190	"""5' nucleotidase (CD73)"""	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.1554T>C	6.37:g.86201888T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQI8|O75520|Q5W116	Silent	SNP	pfam_5'-Nucleotdase_C,pfam_Metallo_PEstase_dom,superfamily_5'-Nucleotdase_C,prints_5_nucleotidase/apyrase	p.H518	ENST00000257770.3	37	c.1554	CCDS5002.1	6																																																																																			NT5E	-	superfamily_5'-Nucleotdase_C	ENSG00000135318		0.453	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5E	HGNC	protein_coding	OTTHUMT00000041388.1	164	0.00	0	T			86201888	86201888	+1	no_errors	ENST00000257770	ensembl	human	known	69_37n	silent	167	12.11	23	SNP	0.971	C
OPN1LW	5956	genome.wustl.edu	37	X	153416306	153416306	+	Silent	SNP	C	C	T			TCGA-BH-A1F0-01A-11D-A135-09	TCGA-BH-A1F0-11B-23D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3903b485-366d-4318-b17d-a0194f032bd8	64613d52-ad24-4f06-8668-3e058043911b	g.chrX:153416306C>T	ENST00000369951.4	+	2	351	c.291C>T	c.(289-291)gtC>gtT	p.V97V	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	97					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCTGGCGGTCGCTGACCTAG	0.582																																						dbGAP											0													98.0	89.0	92.0					X																	153416306		2158	4259	6417	-	-	-	SO:0001819	synonymous_variant	0			Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"""GPCR / Class A : Opsin receptors"""	9936	protein-coding gene	gene with protein product	"""cone dystrophy 5 (X-linked)"""	300822	"""color blindness, protan"", ""red cone photoreceptor pigment"""	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.291C>T	X.37:g.153416306C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_Opsin_red/grn,prints_7TM_GPCR_Rhodpsn,prints_Opsin	p.V97	ENST00000369951.4	37	c.291	CCDS14742.1	X																																																																																			OPN1LW	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000102076		0.582	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN1LW	HGNC	protein_coding	OTTHUMT00000082839.2	188	0.00	0	C	NM_020061		153416306	153416306	+1	no_errors	ENST00000369951	ensembl	human	known	69_37n	silent	166	10.22	19	SNP	0.003	T
PRR14L	253143	genome.wustl.edu	37	22	32112726	32112726	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F0-01A-11D-A135-09	TCGA-BH-A1F0-11B-23D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3903b485-366d-4318-b17d-a0194f032bd8	64613d52-ad24-4f06-8668-3e058043911b	g.chr22:32112726C>T	ENST00000327423.6	-	4	1288	c.1099G>A	c.(1099-1101)Ggt>Agt	p.G367S	PRR14L_ENST00000434485.1_Missense_Mutation_p.G367S|PRR14L_ENST00000461722.1_5'UTR|PRR14L_ENST00000397493.2_Missense_Mutation_p.G367S	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	367										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						AGCAAACCACCACCTTCAAAA	0.388																																						dbGAP											0													137.0	118.0	124.0					22																	32112726		692	1591	2283	-	-	-	SO:0001583	missense	0			BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 30"""	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.1099G>A	22.37:g.32112726C>T	ENSP00000331845:p.Gly367Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	NULL	p.G367S	ENST00000327423.6	37	c.1099	CCDS13900.2	22	.	.	.	.	.	.	.	.	.	.	C	2.765	-0.257004	0.05829	.	.	ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485	T;T;T	0.05855	3.38;3.39;3.38	4.55	-0.23	0.13090	.	0.711536	0.12175	N	0.492673	T	0.03263	0.0095	N	0.14661	0.345	0.09310	N	1	B;B;B	0.14012	0.009;0.009;0.009	B;B;B	0.13407	0.009;0.009;0.009	T	0.48387	-0.9040	10	0.13853	T	0.58	-2.0825	7.1675	0.25700	0.0:0.5177:0.0:0.4823	.	367;367;367	Q5THK1-2;Q5THK1;Q5THK1-4	.;PR14L_HUMAN;.	S	367	ENSP00000380630:G367S;ENSP00000331845:G367S;ENSP00000388314:G367S	ENSP00000331845:G367S	G	-	1	0	PRR14L	30442726	0.000000	0.05858	0.001000	0.08648	0.070000	0.16714	0.154000	0.16343	0.128000	0.18479	-0.157000	0.13467	GGT	PRR14L	-	NULL	ENSG00000183530		0.388	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR14L	HGNC	protein_coding	OTTHUMT00000074993.2	377	0.00	0	C	NM_173566		32112726	32112726	-1	no_errors	ENST00000397493	ensembl	human	known	69_37n	missense	385	10.85	47	SNP	0.000	T
SGK1	6446	genome.wustl.edu	37	6	134492799	134492799	+	Silent	SNP	G	G	C			TCGA-BH-A1F0-01A-11D-A135-09	TCGA-BH-A1F0-11B-23D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3903b485-366d-4318-b17d-a0194f032bd8	64613d52-ad24-4f06-8668-3e058043911b	g.chr6:134492799G>C	ENST00000237305.7	-	9	946	c.858C>G	c.(856-858)gtC>gtG	p.V286V	SGK1_ENST00000367857.5_Silent_p.V276V|SGK1_ENST00000413996.3_Silent_p.V300V|SGK1_ENST00000528577.1_Silent_p.V314V|SGK1_ENST00000475719.2_Silent_p.V242V|SGK1_ENST00000367858.5_Silent_p.V381V|SGK1_ENST00000489458.2_5'UTR	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	286	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TCTCATACAAGACAGCTCCCA	0.522																																						dbGAP											0													114.0	86.0	95.0					6																	134492799		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.858C>G	6.37:g.134492799G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.V381	ENST00000237305.7	37	c.1143	CCDS5170.1	6																																																																																			SGK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000118515		0.522	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK1	HGNC	protein_coding	OTTHUMT00000042312.2	159	0.62	1	G			134492799	134492799	-1	no_errors	ENST00000367858	ensembl	human	known	69_37n	silent	895	16.15	173	SNP	0.992	C
SGK1	6446	genome.wustl.edu	37	6	134493422	134493422	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A1F0-01A-11D-A135-09	TCGA-BH-A1F0-11B-23D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3903b485-366d-4318-b17d-a0194f032bd8	64613d52-ad24-4f06-8668-3e058043911b	g.chr6:134493422G>T	ENST00000237305.7	-	8	783	c.695C>A	c.(694-696)tCa>tAa	p.S232*	SGK1_ENST00000367857.5_Nonsense_Mutation_p.S222*|SGK1_ENST00000413996.3_Nonsense_Mutation_p.S246*|SGK1_ENST00000528577.1_Nonsense_Mutation_p.S260*|SGK1_ENST00000475719.2_Nonsense_Mutation_p.S188*|SGK1_ENST00000367858.5_Nonsense_Mutation_p.S327*|SGK1_ENST00000489458.2_5'UTR	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	232	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GTGTCCCTGTGAATCTAGCAA	0.408																																						dbGAP											0													196.0	179.0	185.0					6																	134493422		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.695C>A	6.37:g.134493422G>T	ENSP00000237305:p.Ser232*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.S327*	ENST00000237305.7	37	c.980	CCDS5170.1	6	.	.	.	.	.	.	.	.	.	.	G	40	8.045529	0.98627	.	.	ENSG00000118515	ENST00000367858;ENST00000413996;ENST00000237305;ENST00000367857;ENST00000528577;ENST00000475719	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	.	.	.	X	327;246;232;222;260;188	.	ENSP00000237305:S232X	S	-	2	0	SGK1	134535115	1.000000	0.71417	0.981000	0.43875	0.980000	0.70556	6.542000	0.73869	2.861000	0.98227	0.655000	0.94253	TCA	SGK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000118515		0.408	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK1	HGNC	protein_coding	OTTHUMT00000042312.2	415	0.72	3	G			134493422	134493422	-1	no_errors	ENST00000367858	ensembl	human	known	69_37n	nonsense	2301	15.04	408	SNP	1.000	T
SYMPK	8189	genome.wustl.edu	37	19	46319770	46319770	+	Silent	SNP	G	G	A			TCGA-BH-A1F0-01A-11D-A135-09	TCGA-BH-A1F0-11B-23D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3903b485-366d-4318-b17d-a0194f032bd8	64613d52-ad24-4f06-8668-3e058043911b	g.chr19:46319770G>A	ENST00000245934.7	-	25	3568	c.3324C>T	c.(3322-3324)gcC>gcT	p.A1108A	RSPH6A_ENST00000221538.3_5'Flank|RSPH6A_ENST00000597055.1_5'Flank|SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1108					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GCGCCTCCTTGGCCTCTGGCT	0.667																																						dbGAP											0													27.0	31.0	30.0					19																	46319770		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.3324C>T	19.37:g.46319770G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold	p.A1108	ENST00000245934.7	37	c.3324	CCDS12676.2	19																																																																																			SYMPK	-	NULL	ENSG00000125755		0.667	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYMPK	HGNC	protein_coding	OTTHUMT00000316581.1	92	0.00	0	G	NM_004819		46319770	46319770	-1	no_errors	ENST00000245934	ensembl	human	known	69_37n	silent	76	22.45	22	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7578491	7578491	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A1F0-01A-11D-A135-09	TCGA-BH-A1F0-11B-23D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3903b485-366d-4318-b17d-a0194f032bd8	64613d52-ad24-4f06-8668-3e058043911b	g.chr17:7578491delC	ENST00000269305.4	-	5	628	c.439delG	c.(439-441)gttfs	p.V147fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.V147fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V147fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.V147fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.V147fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.V147fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	147	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> F (in a sporadic cancer; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.V147I(6)|p.V147fs*23(5)|p.Q144_G154del11(1)|p.W146_V147insXXXXXXX(1)|p.V147F(1)|p.W146_S149>C(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.W146fs*22(1)|p.V143_S149del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGAATCAACCCACAGCTGC	0.597		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	27	Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(7)|Deletion - In frame(2)|Insertion - In frame(1)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(5)|breast(5)|bone(4)|large_intestine(3)|central_nervous_system(3)|liver(2)|ovary(2)|stomach(1)|urinary_tract(1)|oesophagus(1)											58.0	57.0	57.0					17																	7578491		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.439delG	17.37:g.7578491delC	ENSP00000269305:p.Val147fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.V147fs	ENST00000269305.4	37	c.439	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	128	0.00	0	C	NM_000546		7578491	7578491	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	frame_shift_del	112	23.84	36	DEL	1.000	-
TBC1D3	729873	genome.wustl.edu	37	17	36340138	36340138	+	Silent	SNP	A	A	G			TCGA-BH-A1F0-01A-11D-A135-09	TCGA-BH-A1F0-11B-23D-A135-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3903b485-366d-4318-b17d-a0194f032bd8	64613d52-ad24-4f06-8668-3e058043911b	g.chr17:36340138A>G	ENST00000354664.4	-	12	1045	c.889T>C	c.(889-891)Ttg>Ctg	p.L297L	TBC1D3_ENST00000537432.1_Silent_p.L297L|TBC1D3_ENST00000339023.4_Intron|TBC1D3_ENST00000519532.1_Silent_p.L275L	NM_001123391.2	NP_001116863.2	Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3	297						plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATCGGCATCAACGCCTGTTCG	0.602																																						dbGAP											0													2.0	2.0	2.0					17																	36340138		491	1095	1586	-	-	-	SO:0001819	synonymous_variant	0				CCDS45658.1	17q12	2014-09-16			ENSG00000274611	ENSG00000274419			19031	protein-coding gene	gene with protein product	"""prostate cancer gene 17"""	607741				12604796, 12359748, 16863688	Standard	NM_001123391		Approved	TBC1D3A, DKFZp434P2235, PRC17	uc002hoo.2	Q8IZP1	OTTHUMG00000188487	ENST00000354664.4:c.889T>C	17.37:g.36340138A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGX2|A8K007|Q6DCB4|Q9H0B9|Q9UDD4	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.L297	ENST00000354664.4	37	c.889	CCDS45658.1	17																																																																																			TBC1D3	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom	ENSG00000197681		0.602	TBC1D3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D3	HGNC	protein_coding	OTTHUMT00000378681.1	26	0.00	0	A	NM_001123391		36340138	36340138	-1	no_errors	ENST00000354664	ensembl	human	known	69_37n	silent	32	17.50	7	SNP	0.353	G
TSHZ2	128553	genome.wustl.edu	37	20	51870526	51870526	+	Missense_Mutation	SNP	C	C	A	rs150596517		TCGA-BH-A1F0-01A-11D-A135-09	TCGA-BH-A1F0-11B-23D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3903b485-366d-4318-b17d-a0194f032bd8	64613d52-ad24-4f06-8668-3e058043911b	g.chr20:51870526C>A	ENST00000371497.5	+	2	1416	c.529C>A	c.(529-531)Ctg>Atg	p.L177M	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.L174M|TSHZ2_ENST00000603338.2_Missense_Mutation_p.L174M	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	177					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GTCCAAAAGCCTGCAGCAGAA	0.537																																						dbGAP											0													76.0	77.0	77.0					20																	51870526		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.529C>A	20.37:g.51870526C>A	ENSP00000360552:p.Leu177Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.L177M	ENST00000371497.5	37	c.529	CCDS33490.1	20	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027926	0.54790	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.27720	1.66;1.65	5.5	3.39	0.38822	.	0.000000	0.64402	D	0.000001	T	0.49541	0.1563	M	0.72118	2.19	0.53688	D	0.999971	D	0.76494	0.999	D	0.85130	0.997	T	0.46233	-0.9206	10	0.87932	D	0	-36.9098	7.1404	0.25552	0.0:0.6091:0.0:0.3909	.	177	Q9NRE2	TSH2_HUMAN	M	177;174	ENSP00000360552:L177M;ENSP00000333114:L174M	ENSP00000333114:L174M	L	+	1	2	TSHZ2	51303933	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.898000	0.28404	0.608000	0.30000	0.643000	0.83706	CTG	TSHZ2	-	NULL	ENSG00000182463		0.537	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ2	HGNC	protein_coding	OTTHUMT00000080398.6	106	0.00	0	C	NM_173485		51870526	51870526	+1	no_errors	ENST00000371497	ensembl	human	known	69_37n	missense	118	19.73	29	SNP	1.000	A
ZDBF2	57683	genome.wustl.edu	37	2	207170990	207170990	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A1F0-01A-11D-A135-09	TCGA-BH-A1F0-11B-23D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3903b485-366d-4318-b17d-a0194f032bd8	64613d52-ad24-4f06-8668-3e058043911b	g.chr2:207170990G>T	ENST00000374423.3	+	5	2124	c.1738G>T	c.(1738-1740)Gaa>Taa	p.E580*		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	580							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GAGTTGTTCTGAAACAAGTTT	0.438																																						dbGAP											0													101.0	89.0	93.0					2																	207170990		1890	4119	6009	-	-	-	SO:0001587	stop_gained	0			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1738G>T	2.37:g.207170990G>T	ENSP00000363545:p.Glu580*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZNP7|Q6ZSN8	Nonsense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.E580*	ENST00000374423.3	37	c.1738	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	G	42	9.746191	0.99253	.	.	ENSG00000204186	ENST00000374423	.	.	.	4.33	2.51	0.30379	.	0.174544	0.27797	N	0.017808	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	6.2366	0.20766	0.2172:0.0:0.7828:0.0	.	.	.	.	X	580	.	ENSP00000363545:E580X	E	+	1	0	ZDBF2	206879235	0.998000	0.40836	0.835000	0.33067	0.973000	0.67179	2.100000	0.41777	0.747000	0.32809	0.650000	0.86243	GAA	ZDBF2	-	NULL	ENSG00000204186		0.438	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	340	0.00	0	G	NM_020923		207170990	207170990	+1	no_errors	ENST00000374423	ensembl	human	known	69_37n	nonsense	359	16.71	72	SNP	0.900	T
