#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_ORegAnno_bin	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	87144685	87144685	+	Silent	SNP	C	C	T			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr7:87144685C>T	ENST00000265724.3	-	26	3561	c.3144G>A	c.(3142-3144)ccG>ccA	p.P1048P	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Silent_p.P984P	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1048	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			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)	CTGGGATGTCCGGTCGGGTGG	0.507																																						dbGAP											0													72.0	66.0	68.0					7																	87144685		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.3144G>A	7.37:g.87144685C>T			A8K294|B5AK60|Q12755|Q14812	Silent	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.P1048	ENST00000265724.3	37	c.3144	CCDS5608.1	7																																																																																			ABCB1	-	pfscan_ABC_transporter-like	ENSG00000085563		0.507	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2	97	0.00	0	C	NM_000927		87144685	87144685	-1	no_errors	ENST00000265724	ensembl	human	known	69_37n	silent	34	29.17	14	SNP	0.022	T
ANAPC1	64682	genome.wustl.edu	37	2	112549996	112549996	+	Missense_Mutation	SNP	T	T	C			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr2:112549996T>C	ENST00000341068.3	-	38	5427	c.4655A>G	c.(4654-4656)tAt>tGt	p.Y1552C		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1552					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GTGAAAACCATAGTTCATTTC	0.448																																						dbGAP											0													4.0	5.0	5.0					2																	112549996		1674	3389	5063	-	-	-	SO:0001583	missense	0			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.4655A>G	2.37:g.112549996T>C	ENSP00000339109:p.Tyr1552Cys		Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	NULL	p.Y1552C	ENST00000341068.3	37	c.4655	CCDS2093.1	2	.	.	.	.	.	.	.	.	.	.	T	21.7	4.181867	0.78677	.	.	ENSG00000153107	ENST00000341068	T	0.27890	1.64	4.42	4.42	0.53409	.	0.000000	0.33005	U	0.005396	T	0.62708	0.2450	M	0.90922	3.16	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.73000	-0.4120	10	0.87932	D	0	-11.9607	13.9516	0.64121	0.0:0.0:0.0:1.0	.	1552	Q9H1A4	APC1_HUMAN	C	1552	ENSP00000339109:Y1552C	ENSP00000339109:Y1552C	Y	-	2	0	ANAPC1	112266467	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.967000	0.87967	1.741000	0.51731	0.477000	0.44152	TAT	ANAPC1	-	NULL	ENSG00000153107		0.448	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC1	HGNC	protein_coding	OTTHUMT00000254045.2	118	0.00	0	T	NM_022662		112549996	112549996	-1	no_errors	ENST00000341068	ensembl	human	known	69_37n	missense	20	54.55	24	SNP	1.000	C
AGAP1	116987	genome.wustl.edu	37	2	236792028	236792028	+	Missense_Mutation	SNP	G	G	C			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr2:236792028G>C	ENST00000304032.8	+	10	1670	c.1090G>C	c.(1090-1092)Gag>Cag	p.E364Q	AGAP1_ENST00000409538.1_Missense_Mutation_p.E629Q|AGAP1_ENST00000428334.2_Missense_Mutation_p.E203Q|AGAP1_ENST00000336665.5_Missense_Mutation_p.E364Q	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	364	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GTTGAATAAAGAGTGGAAAAA	0.413																																						dbGAP											0													128.0	115.0	119.0					2																	236792028		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.1090G>C	2.37:g.236792028G>C	ENSP00000307634:p.Glu364Gln		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.E364Q	ENST00000304032.8	37	c.1090	CCDS33408.1	2	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986515	0.93044	.	.	ENSG00000157985	ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.3	5.3	0.74995	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.056069	0.64402	D	0.000001	D	0.86502	0.5948	M	0.73372	2.23	0.80722	D	1	D;D	0.67145	0.988;0.996	P;D	0.63033	0.794;0.91	D	0.86907	0.2058	10	0.54805	T	0.06	.	18.1477	0.89663	0.0:0.0:1.0:0.0	.	364;364	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	Q	364;364;629;203	ENSP00000307634:E364Q;ENSP00000338378:E364Q;ENSP00000386897:E629Q;ENSP00000411824:E203Q	ENSP00000307634:E364Q	E	+	1	0	AGAP1	236456767	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.073000	0.93992	2.652000	0.90054	0.655000	0.94253	GAG	AGAP1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000157985		0.413	AGAP1-001	KNOWN	basic|CCDS	protein_coding	AGAP1	HGNC	protein_coding	OTTHUMT00000257076.2	68	0.00	0	G	NM_014914		236792028	236792028	+1	no_errors	ENST00000304032	ensembl	human	known	69_37n	missense	24	14.29	4	SNP	1.000	C
ANGPT1	284	genome.wustl.edu	37	8	108315494	108315494	+	Missense_Mutation	SNP	T	T	C			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr8:108315494T>C	ENST00000520734.1	-	4	595	c.310A>G	c.(310-312)Att>Gtt	p.I104V	ANGPT1_ENST00000518386.1_Intron|ANGPT1_ENST00000520052.1_Missense_Mutation_p.I103V			Q15389	ANGP1_HUMAN	angiopoietin 1	304					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			ATATTATTAATATAAATAGTG	0.338																																						dbGAP											0													68.0	75.0	73.0					8																	108315494		2202	4298	6500	-	-	-	SO:0001583	missense	0			D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"""Fibrinogen C domain containing"""	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.310A>G	8.37:g.108315494T>C	ENSP00000430750:p.Ile104Val		Q5HYA0	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.I304V	ENST00000520734.1	37	c.910		8	.	.	.	.	.	.	.	.	.	.	T	0.726	-0.781611	0.02929	.	.	ENSG00000154188	ENST00000517746;ENST00000297450;ENST00000395820;ENST00000520734;ENST00000520052	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	4.45	1.96	0.26148	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.255877	0.37483	N	0.002075	T	0.44891	0.1315	N	0.05158	-0.105	0.41229	D	0.986561	B;B;B	0.11235	0.001;0.004;0.004	B;B;B	0.24006	0.004;0.05;0.05	T	0.18178	-1.0345	10	0.07030	T	0.85	.	4.5295	0.11997	0.1485:0.1625:0.0:0.689	.	103;304;304	E7ERK4;Q5HYA0;Q15389	.;.;ANGP1_HUMAN	V	304;303;116;104;103	ENSP00000428340:I304V;ENSP00000297450:I303V;ENSP00000430750:I104V;ENSP00000429349:I103V	ENSP00000297450:I303V	I	-	1	0	ANGPT1	108384670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.115000	0.50391	0.213000	0.20722	0.528000	0.53228	ATT	ANGPT1	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	ENSG00000154188		0.338	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	ANGPT1	HGNC	protein_coding	OTTHUMT00000380428.2	70	0.00	0	T	NM_001146, NM_139290		108315494	108315494	-1	no_errors	ENST00000517746	ensembl	human	known	69_37n	missense	50	15.25	9	SNP	1.000	C
ANKRD28	23243	genome.wustl.edu	37	3	15793256	15793256	+	Splice_Site	DEL	C	C	-			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr3:15793256delC	ENST00000399451.2	-	4	629		c.e4+1		ANKRD28_ENST00000497037.1_Splice_Site|ANKRD28_ENST00000383777.1_Splice_Site	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28							nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						AAATTTCATACCTCACTACAA	0.328																																						dbGAP											0													43.0	43.0	43.0					3																	15793256		1831	4082	5913	-	-	-	SO:0001630	splice_region_variant	0			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.261+1G>-	3.37:g.15793256delC			B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Splice_Site	DEL	-	e4+1	ENST00000399451.2	37	c.360+1	CCDS46769.1	3																																																																																			ANKRD28	-	-	ENSG00000206560		0.328	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	ANKRD28	HGNC	protein_coding	OTTHUMT00000339758.1	55	0.00	0	C	NM_015199	Intron	15793256	15793256	-1	no_errors	ENST00000383777	ensembl	human	known	69_37n	splice_site_del	18	10.00	2	DEL	1.000	-
ASB13	79754	genome.wustl.edu	37	10	5681084	5681084	+	3'UTR	SNP	G	G	A			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr10:5681084G>A	ENST00000357700.6	-	0	2445				ASB13_ENST00000479033.1_5'UTR	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		GACCCGCCATGACAATGGCGG	0.527																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AK091935	CCDS7070.1	10p15.1	2013-01-10	2011-01-25		ENSG00000196372	ENSG00000196372		"""Ankyrin repeat domain containing"""	19765	protein-coding gene	gene with protein product		615055	"""ankyrin repeat and SOCS box-containing 13"""			12076535	Standard	NM_024701		Approved	FLJ13134, MGC19879	uc001iig.2	Q8WXK3	OTTHUMG00000017603	ENST00000357700.6:c.*1582C>T	10.37:g.5681084G>A			A8K7Q6|D3DRR2|Q96EP7|Q9H8Z1	RNA	SNP	-	NULL	ENST00000357700.6	37	NULL	CCDS7070.1	10																																																																																			ASB13	-	-	ENSG00000196372		0.527	ASB13-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB13	HGNC	protein_coding	OTTHUMT00000046564.1	66	0.00	0	G			5681084	5681084	-1	no_errors	ENST00000479033	ensembl	human	known	69_37n	rna	41	18.00	9	SNP	0.000	A
BLK	640	genome.wustl.edu	37	8	11412257	11412257	+	Frame_Shift_Del	DEL	T	T	-			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr8:11412257delT	ENST00000259089.4	+	7	1070	c.478delT	c.(478-480)ttcfs	p.F160fs	RP11-148O21.6_ENST00000602626.1_lincRNA|RP11-148O21.4_ENST00000528629.1_RNA|BLK_ENST00000529894.1_Frame_Shift_Del_p.F89fs|RP11-148O21.3_ENST00000527922.1_RNA	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	160	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TCCAGGTGCCTTCTCCCTGTC	0.502											OREG0018557	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													84.0	82.0	83.0					8																	11412257		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"""SH2 domain containing"""	1057	protein-coding gene	gene with protein product		191305	"""B lymphoid tyrosine kinase"""			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.478delT	8.37:g.11412257delT	ENSP00000259089:p.Phe160fs	672	Q16291|Q96IN1	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.F160fs	ENST00000259089.4	37	c.478	CCDS5982.1	8																																																																																			BLK	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	ENSG00000136573		0.502	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLK	HGNC	protein_coding	OTTHUMT00000207460.1	68	0.00	0	T			11412257	11412257	+1	no_errors	ENST00000259089	ensembl	human	known	69_37n	frame_shift_del	16	11.11	2	DEL	0.960	-
CCDC149	91050	genome.wustl.edu	37	4	24821785	24821786	+	Intron	DEL	CA	CA	-			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr4:24821785_24821786delCA	ENST00000389609.4	-	12	1186				CCDC149_ENST00000508236.1_5'Flank|CCDC149_ENST00000428116.2_Intron|CCDC149_ENST00000504487.1_Intron|CCDC149_ENST00000502801.1_Intron	NM_173463.4	NP_775734.2	Q6ZUS6	CC149_HUMAN	coiled-coil domain containing 149											cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				CTAACCCTTGCACACACACACA	0.431																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS33967.1, CCDS47036.1, CCDS33967.2	4p15.2	2008-03-03				ENSG00000181982			25405	protein-coding gene	gene with protein product						17457313	Standard	NM_173463		Approved	DKFZp761B107	uc003grc.3	Q6ZUS6		ENST00000389609.4:c.1043-188TG>-	4.37:g.24821795_24821796delCA			A6NJE7|B4DK90|B4DZG3|G5EA04|Q6NW41|Q8N3K8	RNA	DEL	-	NULL	ENST00000389609.4	37	NULL	CCDS33967.2	4																																																																																			CCDC149	-	-	ENSG00000181982		0.431	CCDC149-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	CCDC149	HGNC	protein_coding	OTTHUMT00000360157.1	25	0.00	0	CA	NM_173463		24821785	24821786	-1	no_errors	ENST00000507096	ensembl	human	known	69_37n	rna	3	40.00	2	DEL	0.002:0.001	-
CD3G	917	genome.wustl.edu	37	11	118220684	118220684	+	Splice_Site	DEL	A	A	-			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr11:118220684delA	ENST00000532917.1	+	3	374	c.306delA	c.(304-306)aga>ag	p.R102fs	CD3G_ENST00000392883.2_Splice_Site_p.R42fs|CD3G_ENST00000532903.1_3'UTR	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN	CD3g molecule, gamma (CD3-TCR complex)	102					cell surface receptor signaling pathway (GO:0007166)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|regulation of immune response (GO:0050776)|regulation of lymphocyte apoptotic process (GO:0070228)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|receptor signaling complex scaffold activity (GO:0030159)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	TGTATTACAGAAGTATGTAAT	0.393																																						dbGAP											0													78.0	76.0	77.0					11																	118220684		2200	4296	6496	-	-	-	SO:0001630	splice_region_variant	0			X60491	CCDS8395.1	11q23	2014-09-17	2006-03-28		ENSG00000160654	ENSG00000160654		"""CD molecules"""	1675	protein-coding gene	gene with protein product		186740	"""CD3g antigen, gamma polypeptide (TiT3 complex)"""				Standard	NM_000073		Approved		uc001psu.2	P09693	OTTHUMG00000166971	ENST00000532917.1:c.307+1A>-	11.37:g.118220684delA			Q2HIZ6	Frame_Shift_Del	DEL	pfam_Phos_immunorcpt_sig_ITAM,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM	p.M103fs	ENST00000532917.1	37	c.306	CCDS8395.1	11																																																																																			CD3G	-	NULL	ENSG00000160654		0.393	CD3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD3G	HGNC	protein_coding	OTTHUMT00000392135.1	32	0.00	0	A	NM_000073	Frame_Shift_Del	118220684	118220684	+1	no_errors	ENST00000532917	ensembl	human	known	69_37n	frame_shift_del	10	16.67	2	DEL	1.000	-
CLDN6	9074	genome.wustl.edu	37	16	3065758	3065758	+	Missense_Mutation	SNP	G	G	A			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr16:3065758G>A	ENST00000396925.1	-	3	693	c.265C>T	c.(265-267)Ctt>Ttt	p.L89F	CLDN6_ENST00000328796.4_Missense_Mutation_p.L89F|TNFRSF12A_ENST00000573001.1_5'Flank|CLDN6_ENST00000572154.1_Intron			P56747	CLD6_HUMAN	claudin 6	89					calcium-independent cell-cell adhesion (GO:0016338)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						AGGGCCACAAGGAGGGCGATG	0.632																																						dbGAP											0													88.0	64.0	72.0					16																	3065758		2198	4300	6498	-	-	-	SO:0001583	missense	0			AJ249735	CCDS10488.1	16p13.3	2008-08-01			ENSG00000184697	ENSG00000184697		"""Claudins"""	2048	protein-coding gene	gene with protein product		615798				9892664, 18234789	Standard	NM_021195		Approved		uc002csu.4	P56747	OTTHUMG00000128999	ENST00000396925.1:c.265C>T	16.37:g.3065758G>A	ENSP00000380131:p.Leu89Phe		B3KQP9|D3DUA5	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin6	p.L89F	ENST00000396925.1	37	c.265	CCDS10488.1	16	.	.	.	.	.	.	.	.	.	.	G	7.168	0.587105	0.13812	.	.	ENSG00000184697	ENST00000396925;ENST00000328796	D;D	0.89746	-2.56;-2.56	4.76	3.8	0.43715	.	0.174841	0.38663	N	0.001608	D	0.87680	0.6238	M	0.69823	2.125	0.24021	N	0.996147	P	0.36633	0.562	B	0.38500	0.275	T	0.81236	-0.1024	10	0.51188	T	0.08	.	10.8858	0.46965	0.0922:0.0:0.9078:0.0	.	89	P56747	CLD6_HUMAN	F	89	ENSP00000380131:L89F;ENSP00000328674:L89F	ENSP00000328674:L89F	L	-	1	0	CLDN6	3005759	0.016000	0.18221	0.297000	0.24988	0.190000	0.23558	0.093000	0.15086	1.373000	0.46208	0.655000	0.94253	CTT	CLDN6	-	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin	ENSG00000184697		0.632	CLDN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN6	HGNC	protein_coding	OTTHUMT00000250988.1	92	0.00	0	G	NM_021195		3065758	3065758	-1	no_errors	ENST00000328796	ensembl	human	known	69_37n	missense	32	27.27	12	SNP	0.300	A
CHST5	23563	genome.wustl.edu	37	16	75564025	75564025	+	Silent	SNP	G	G	A			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr16:75564025G>A	ENST00000336257.3	-	3	1652	c.258C>T	c.(256-258)ccC>ccT	p.P86P	CHST5_ENST00000541075.1_Silent_p.P92P|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	86					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						AGAAGACGTCGGGGTGCTGGC	0.677																																						dbGAP											0													40.0	37.0	38.0					16																	75564025		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.258C>T	16.37:g.75564025G>A			B2RV23|Q7LCN3|Q9UBY3	Silent	SNP	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	p.P92	ENST00000336257.3	37	c.276	CCDS10919.1	16																																																																																			CHST5	-	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	ENSG00000135702		0.677	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST5	HGNC	protein_coding	OTTHUMT00000269025.2	72	0.00	0	G	NM_012126		75564025	75564025	-1	no_errors	ENST00000541075	ensembl	human	known	69_37n	silent	32	13.51	5	SNP	0.391	A
COL6A1	1291	genome.wustl.edu	37	21	47421114	47421114	+	Intron	SNP	C	C	T			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr21:47421114C>T	ENST00000361866.3	+	30	1936				COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		AGGGGAGGGGCCAGGGCACTG	0.697																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.1823-53C>T	21.37:g.47421114C>T			O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	RNA	SNP	-	NULL	ENST00000361866.3	37	NULL	CCDS13727.1	21																																																																																			COL6A1	-	-	ENSG00000142156		0.697	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A1	HGNC	protein_coding	OTTHUMT00000206877.1	15	0.00	0	C	NM_001848		47421114	47421114	+1	no_errors	ENST00000498614	ensembl	human	known	69_37n	rna	10	28.57	4	SNP	0.000	T
FAM182B	728882	genome.wustl.edu	37	20	25840516	25840516	+	Intron	SNP	T	T	C			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr20:25840516T>C	ENST00000376403.1	-	1	142				FAM182B_ENST00000478164.1_Intron|FAM182B_ENST00000376404.2_Intron			Q5T319	F182B_HUMAN	family with sequence similarity 182, member B											lung(1)	1						tgtggagaggtcaggccggag	0.627																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0					20p11.1	2010-07-14			ENSG00000175170	ENSG00000175170			34503	pseudogene	pseudogene							Standard	NR_027061		Approved			Q5T319	OTTHUMG00000032136	ENST00000376403.1:c.236+3179A>G	20.37:g.25840516T>C			Q4G0Q1	RNA	SNP	-	NULL	ENST00000376403.1	37	NULL		20																																																																																			FAM182B	-	-	ENSG00000175170		0.627	FAM182B-003	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	FAM182B	HGNC	protein_coding	OTTHUMT00000078463.2	74	0.00	0	T	NR_026714		25840516	25840516	-1	no_errors	ENST00000584356	ensembl	human	known	69_37n	rna	27	12.90	4	SNP	0.024	C
NUTM2A	728118	genome.wustl.edu	37	10	88988294	88988294	+	Silent	SNP	G	G	A			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr10:88988294G>A	ENST00000381707.2	+	2	1040	c.657G>A	c.(655-657)gcG>gcA	p.A219A	NUTM2A_ENST00000381689.4_Silent_p.A219A|NUTM2A-AS1_ENST00000451940.2_RNA	NM_001099338.1	NP_001092808.1	Q8IVF1	NTM2A_HUMAN	NUT family member 2A	219																	CCGCTCAGGCGCAGACCTTGG	0.657																																						dbGAP											0													3.0	4.0	3.0					10																	88988294		1171	2919	4090	-	-	-	SO:0001819	synonymous_variant	0				CCDS44452.1	10q23.2	2013-03-15	2013-03-14	2013-03-14	ENSG00000184923	ENSG00000184923			23438	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member A"""	FAM22A			Standard	NM_001099338		Approved		uc001kek.3	Q8IVF1	OTTHUMG00000018670	ENST00000381707.2:c.657G>A	10.37:g.88988294G>A			A6NMX5|C9JDI1|Q5VZW1	Silent	SNP	NULL	p.A219	ENST00000381707.2	37	c.657	CCDS44452.1	10																																																																																			FAM22A	-	NULL	ENSG00000184923		0.657	NUTM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM22A	HGNC	protein_coding	OTTHUMT00000049198.2	92	0.00	0	G	NM_001099338		88988294	88988294	+1	no_errors	ENST00000381707	ensembl	human	known	69_37n	silent	41	24.07	13	SNP	0.006	A
SPATA31D1	389763	genome.wustl.edu	37	9	84608257	84608257	+	Missense_Mutation	SNP	G	G	A			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr9:84608257G>A	ENST00000344803.2	+	4	2919	c.2872G>A	c.(2872-2874)Gat>Aat	p.D958N		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	958					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AGATTCCAAAGATGGGGTCTC	0.488																																						dbGAP											0													95.0	91.0	92.0					9																	84608257		1862	4117	5979	-	-	-	SO:0001583	missense	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2872G>A	9.37:g.84608257G>A	ENSP00000341988:p.Asp958Asn			Missense_Mutation	SNP	NULL	p.D958N	ENST00000344803.2	37	c.2872	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	G	6.135	0.393176	0.11638	.	.	ENSG00000214929	ENST00000344803	T	0.04970	3.52	2.42	-4.84	0.03151	.	4.946150	0.00783	N	0.001285	T	0.05227	0.0139	N	0.08118	0	0.09310	N	1	P	0.44309	0.832	P	0.54499	0.754	T	0.19614	-1.0300	10	0.13853	T	0.58	5.9715	0.674	0.00864	0.2256:0.2685:0.3052:0.2008	.	958	Q6ZQQ2	F75D1_HUMAN	N	958	ENSP00000341988:D958N	ENSP00000341988:D958N	D	+	1	0	FAM75D1	83798077	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.278000	0.08490	-2.220000	0.00728	-0.391000	0.06502	GAT	FAM75D1	-	NULL	ENSG00000214929		0.488	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM75D1	HGNC	protein_coding	OTTHUMT00000402325.1	75	0.00	0	G	NM_001001670		84608257	84608257	+1	no_errors	ENST00000344803	ensembl	human	known	69_37n	missense	27	37.21	16	SNP	0.000	A
FSD1	79187	genome.wustl.edu	37	19	4323007	4323007	+	Missense_Mutation	SNP	A	A	C			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr19:4323007A>C	ENST00000221856.6	+	11	1211	c.1064A>C	c.(1063-1065)gAg>gCg	p.E355A	FSD1_ENST00000597590.1_Missense_Mutation_p.E355A|STAP2_ENST00000597593.1_5'Flank	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	355	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		GACGGCGGGGAGCATTACTGG	0.677																																						dbGAP											0													21.0	22.0	21.0					19																	4323007		2201	4296	6497	-	-	-	SO:0001583	missense	0			AF316829	CCDS12127.1	19p13.3	2013-02-11	2005-03-01			ENSG00000105255		"""Fibronectin type III domain containing"""	13745	protein-coding gene	gene with protein product		609828	"""fibronectin type 3 and SPRY domain containing 1"""			11267680	Standard	NM_024333		Approved	MGC3213, MIR1	uc002lzy.2	Q9BTV5		ENST00000221856.6:c.1064A>C	19.37:g.4323007A>C	ENSP00000221856:p.Glu355Ala		B2RDT0|Q9BXN0|Q9HAG4	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.E355A	ENST00000221856.6	37	c.1064	CCDS12127.1	19	.	.	.	.	.	.	.	.	.	.	A	16.76	3.210993	0.58343	.	.	ENSG00000105255	ENST00000221856	T	0.68765	-0.35	4.93	4.93	0.64822	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.067203	0.64402	U	0.000012	T	0.56543	0.1992	L	0.31476	0.935	0.34245	D	0.678149	B	0.32862	0.387	B	0.39771	0.309	T	0.62243	-0.6895	10	0.14252	T	0.57	.	12.5627	0.56291	1.0:0.0:0.0:0.0	.	355	Q9BTV5	FSD1_HUMAN	A	355	ENSP00000221856:E355A	ENSP00000221856:E355A	E	+	2	0	FSD1	4274007	1.000000	0.71417	0.979000	0.43373	0.799000	0.45148	7.370000	0.79589	1.854000	0.53819	0.393000	0.25936	GAG	FSD1	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000105255		0.677	FSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSD1	HGNC	protein_coding	OTTHUMT00000458091.1	67	0.00	0	A	NM_024333		4323007	4323007	+1	no_errors	ENST00000221856	ensembl	human	known	69_37n	missense	23	41.46	17	SNP	1.000	C
GFAP	2670	genome.wustl.edu	37	17	42990695	42990695	+	Missense_Mutation	SNP	T	T	G			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr17:42990695T>G	ENST00000253408.5	-	4	787	c.722A>C	c.(721-723)cAg>cCg	p.Q241P	GFAP_ENST00000586793.1_Missense_Mutation_p.Q241P|GFAP_ENST00000591327.1_5'Flank|GFAP_ENST00000435360.2_Missense_Mutation_p.Q241P|GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	241	Coil 2A.|Rod.				astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TGCCTCATACTGCGTGCGGAT	0.632																																						dbGAP											0													140.0	113.0	122.0					17																	42990695		2203	4300	6503	-	-	-	SO:0001583	missense	0			S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"""Intermediate filaments type III"""	4235	protein-coding gene	gene with protein product	"""intermediate filament protein"""	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.722A>C	17.37:g.42990695T>G	ENSP00000253408:p.Gln241Pro		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	pfam_F	p.Q241P	ENST00000253408.5	37	c.722	CCDS11491.1	17	.	.	.	.	.	.	.	.	.	.	T	16.85	3.237954	0.58886	.	.	ENSG00000131095	ENST00000253408;ENST00000421021;ENST00000435360	D;D	0.95756	-3.8;-3.8	4.93	4.93	0.64822	Filament (1);	0.000000	0.85682	D	0.000000	D	0.98353	0.9453	H	0.95645	3.7	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	D	0.99560	1.0968	10	0.87932	D	0	.	14.7278	0.69357	0.0:0.0:0.0:1.0	.	241;241	E9PAX3;P14136	.;GFAP_HUMAN	P	241;216;241	ENSP00000253408:Q241P;ENSP00000403962:Q241P	ENSP00000253408:Q241P	Q	-	2	0	GFAP	40346221	1.000000	0.71417	0.993000	0.49108	0.126000	0.20510	6.140000	0.71738	2.218000	0.71995	0.533000	0.62120	CAG	GFAP	-	pfam_F	ENSG00000131095		0.632	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFAP	HGNC	protein_coding	OTTHUMT00000448701.1	39	0.00	0	T	NM_002055		42990695	42990695	-1	no_errors	ENST00000253408	ensembl	human	known	69_37n	missense	15	25.00	5	SNP	1.000	G
GIPR	2696	genome.wustl.edu	37	19	46181214	46181214	+	Silent	SNP	G	G	C			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr19:46181214G>C	ENST00000590918.1	+	11	1074	c.975G>C	c.(973-975)ctG>ctC	p.L325L	GIPR_ENST00000593127.1_3'UTR|GIPR_ENST00000304207.8_Silent_p.L289L|MIR642A_ENST00000385039.1_RNA|GIPR_ENST00000263281.3_Silent_p.L325L	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	325					activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		TGTCCAAGCTGAGGACACGGC	0.592																																						dbGAP											0													74.0	68.0	70.0					19																	46181214		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"""GPCR / Class B : Glucagon receptors"""	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.975G>C	19.37:g.46181214G>C			B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GIP_rcpt,prints_GPCR_2_secretin-like	p.L325	ENST00000590918.1	37	c.975	CCDS12671.1	19																																																																																			GIPR	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000010310		0.592	GIPR-001	KNOWN	basic|CCDS	protein_coding	GIPR	HGNC	protein_coding	OTTHUMT00000459640.1	113	0.00	0	G			46181214	46181214	+1	no_errors	ENST00000590918	ensembl	human	known	69_37n	silent	65	13.33	10	SNP	1.000	C
GPRIN1	114787	genome.wustl.edu	37	5	176026312	176026312	+	Missense_Mutation	SNP	C	C	T	rs200521678		TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr5:176026312C>T	ENST00000303991.4	-	2	701	c.524G>A	c.(523-525)cGg>cAg	p.R175Q		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	175					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCTGCCTTCCGTGAGGACCC	0.493																																						dbGAP											0													69.0	72.0	71.0					5																	176026312		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.524G>A	5.37:g.176026312C>T	ENSP00000305839:p.Arg175Gln		C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	NULL	p.R175Q	ENST00000303991.4	37	c.524	CCDS4405.1	5	.	.	.	.	.	.	.	.	.	.	c	7.544	0.661278	0.14645	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	T	0.09538	2.97	4.74	1.89	0.25635	.	0.977161	0.08309	N	0.965646	T	0.09291	0.0229	L	0.40543	1.245	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.46512	-0.9186	10	0.13853	T	0.58	4.0E-4	8.4365	0.32791	0.1268:0.7202:0.0:0.153	.	175	Q7Z2K8	GRIN1_HUMAN	Q	175	ENSP00000305839:R175Q	ENSP00000305839:R175Q	R	-	2	0	GPRIN1	175958918	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.573000	0.05874	-0.059000	0.13154	-1.733000	0.00692	CGG	GPRIN1	-	NULL	ENSG00000169258		0.493	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN1	HGNC	protein_coding	OTTHUMT00000253149.1	118	0.00	0	C	NM_052899		176026312	176026312	-1	no_errors	ENST00000303991	ensembl	human	known	69_37n	missense	49	16.95	10	SNP	0.000	T
IL21	59067	genome.wustl.edu	37	4	123536949	123536950	+	Frame_Shift_Ins	INS	-	-	G			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr4:123536949_123536950insG	ENST00000264497.3	-	3	304_305	c.247_248insC	c.(247-249)caafs	p.Q83fs		NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	76					cell maturation (GO:0048469)|immune response (GO:0006955)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	cytokine receptor binding (GO:0005126)|interleukin-2 receptor binding (GO:0005134)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						TGACTTTAGTTGGGCCTTCTGA	0.347																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF254069	CCDS3727.1, CCDS75189.1	4q26-q27	2011-07-15			ENSG00000138684	ENSG00000138684		"""Interleukins and interleukin receptors"""	6005	protein-coding gene	gene with protein product		605384				11081504, 17947662	Standard	NM_001207006		Approved	Za11, IL-21	uc003ies.3	Q9HBE4	OTTHUMG00000133073	ENST00000264497.3:c.248dupC	4.37:g.123536952_123536952dupG	ENSP00000264497:p.Gln83fs		A5J0L4	Frame_Shift_Ins	INS	pfam_Interleukin_15-like	p.Q83fs	ENST00000264497.3	37	c.248_247	CCDS3727.1	4																																																																																			IL21	-	pfam_Interleukin_15-like	ENSG00000138684		0.347	IL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL21	HGNC	protein_coding	OTTHUMT00000256713.1	39	0.00	0	-	NM_021803		123536949	123536950	-1	no_errors	ENST00000264497	ensembl	human	known	69_37n	frame_shift_ins	11	15.38	2	INS	0.932:0.940	G
KLHL9	55958	genome.wustl.edu	37	9	21333117	21333117	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr9:21333117delG	ENST00000359039.4	-	1	2262	c.1742delC	c.(1741-1743)ccafs	p.P581fs	KLHL9_ENST00000537938.1_Frame_Shift_Del_p.P513fs			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	581					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)		p.P581L(1)		endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		AAGTGACTCTGGAAGATCAAA	0.413																																						dbGAP											1	Substitution - Missense(1)	ovary(1)											120.0	120.0	120.0					9																	21333117		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.1742delC	9.37:g.21333117delG	ENSP00000351933:p.Pro581fs		Q8TCQ2	Frame_Shift_Del	DEL	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.P581fs	ENST00000359039.4	37	c.1742	CCDS6503.1	9																																																																																			KLHL9	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000198642		0.413	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL9	HGNC	protein_coding	OTTHUMT00000051898.2	65	0.00	0	G	NM_018847		21333117	21333117	-1	no_errors	ENST00000359039	ensembl	human	known	69_37n	frame_shift_del	19	17.39	4	DEL	1.000	-
LIMD1	8994	genome.wustl.edu	37	3	45636514	45636515	+	Frame_Shift_Ins	INS	-	-	C	rs143204461		TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr3:45636514_45636515insC	ENST00000273317.4	+	1	164_165	c.143_144insC	c.(142-147)ttcgccfs	p.A49fs	AC099539.1_ENST00000516118.1_RNA|LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Frame_Shift_Ins_p.A49fs	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	49					cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CGCAGGGTGTTCGCCACCAAGA	0.589																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.144dupC	3.37:g.45636515_45636515dupC	ENSP00000273317:p.Ala49fs		Q17RQ1|Q9BQQ9|Q9NQ47	Frame_Shift_Ins	INS	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.A49fs	ENST00000273317.4	37	c.143_144	CCDS2729.1	3																																																																																			LIMD1	-	NULL	ENSG00000144791		0.589	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMD1	HGNC	protein_coding	OTTHUMT00000257327.1	54	0.00	0	-	NM_014240		45636514	45636515	+1	no_errors	ENST00000273317	ensembl	human	known	69_37n	frame_shift_ins	20	25.93	7	INS	1.000:0.992	C
LUZP1	7798	genome.wustl.edu	37	1	23419464	23419464	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr1:23419464delC	ENST00000302291.4	-	4	2092	c.1291delG	c.(1291-1293)gcafs	p.A432fs	LUZP1_ENST00000314174.5_Frame_Shift_Del_p.A432fs|LUZP1_ENST00000418342.1_Frame_Shift_Del_p.A432fs|LUZP1_ENST00000374623.3_Frame_Shift_Del_p.A432fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	432					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GCTTTTGCTGCCCTCCTGTTG	0.517																																						dbGAP											0													192.0	198.0	196.0					1																	23419464		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.1291delG	1.37:g.23419464delC	ENSP00000303758:p.Ala432fs		Q5TH93|Q8N4X3|Q8TEH1	Frame_Shift_Del	DEL	NULL	p.A431fs	ENST00000302291.4	37	c.1291	CCDS30628.1	1																																																																																			LUZP1	-	NULL	ENSG00000169641		0.517	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP1	HGNC	protein_coding	OTTHUMT00000008900.3	42	0.00	0	C	NM_033631		23419464	23419464	-1	no_errors	ENST00000302291	ensembl	human	known	69_37n	frame_shift_del	13	13.33	2	DEL	0.755	-
MOK	5891	genome.wustl.edu	37	14	102718136	102718136	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr14:102718136delC	ENST00000361847.2	-	6	599	c.368delG	c.(367-369)ggafs	p.G123fs	MOK_ENST00000524214.1_Frame_Shift_Del_p.G93fs|MOK_ENST00000193029.6_5'UTR|MOK_ENST00000522874.1_Frame_Shift_Del_p.G123fs	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	123	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)										GTGAAATATTCCATTTCTGCA	0.274																																						dbGAP											0													49.0	48.0	48.0					14																	102718136		2200	4300	6500	-	-	-	SO:0001589	frameshift_variant	0			AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"""renal tumor antigen"""	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.368delG	14.37:g.102718136delC	ENSP00000355304:p.Gly123fs		B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Frame_Shift_Del	DEL	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	p.G123fs	ENST00000361847.2	37	c.368	CCDS9971.1	14																																																																																			MOK	-	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	ENSG00000080823		0.274	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MOK	HGNC	protein_coding	OTTHUMT00000380848.3	47	0.00	0	C			102718136	102718136	-1	no_errors	ENST00000361847	ensembl	human	known	69_37n	frame_shift_del	10	16.67	2	DEL	1.000	-
MUC16	94025	genome.wustl.edu	37	19	9020071	9020071	+	Missense_Mutation	SNP	C	C	T			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr19:9020071C>T	ENST00000397910.4	-	21	37627	c.37424G>A	c.(37423-37425)cGg>cAg	p.R12475Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12477	SEA 3. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGTACAGCCGCTCTCTGTT	0.557																																						dbGAP											0													184.0	161.0	168.0					19																	9020071		1950	4153	6103	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37424G>A	19.37:g.9020071C>T	ENSP00000381008:p.Arg12475Gln		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.R12475Q	ENST00000397910.4	37	c.37424	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	.	12.38	1.921191	0.33908	.	.	ENSG00000181143	ENST00000397910	T	0.28666	1.6	3.32	-5.69	0.02428	.	.	.	.	.	T	0.09291	0.0229	N	0.00793	-1.18	.	.	.	B	0.15141	0.012	B	0.10450	0.005	T	0.37079	-0.9721	8	0.87932	D	0	.	9.917	0.41442	0.0:0.5456:0.0:0.4544	.	12475	B5ME49	.	Q	12475	ENSP00000381008:R12475Q	ENSP00000381008:R12475Q	R	-	2	0	MUC16	8881071	0.000000	0.05858	0.012000	0.15200	0.496000	0.33645	-5.411000	0.00124	-1.133000	0.02903	-0.417000	0.06048	CGG	MUC16	-	pfam_SEA,smart_SEA	ENSG00000181143		0.557	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	193	0.00	0	C	NM_024690		9020071	9020071	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	78	30.36	34	SNP	0.002	T
NSDHL	50814	genome.wustl.edu	37	X	152018963	152018963	+	Missense_Mutation	SNP	G	G	A			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chrX:152018963G>A	ENST00000370274.3	+	3	457	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	NSDHL_ENST00000440023.1_Missense_Mutation_p.R88Q	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	88					cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTGCAGCCGACAGGTAATG	0.498																																						dbGAP											0													167.0	157.0	160.0					X																	152018963		2203	4300	6503	-	-	-	SO:0001583	missense	0			X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	13398	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 31E, member 1"""	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.263G>A	X.37:g.152018963G>A	ENSP00000359297:p.Arg88Gln		D3DWT6|O00344	Missense_Mutation	SNP	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_NmrA	p.R88Q	ENST00000370274.3	37	c.263	CCDS14717.1	X	.	.	.	.	.	.	.	.	.	.	g	4.810	0.150583	0.09185	.	.	ENSG00000147383	ENST00000370274;ENST00000440023;ENST00000432467	D;D;D	0.84070	-1.8;-1.8;-1.8	5.51	1.51	0.23008	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.307790	0.38272	N	0.001755	T	0.61350	0.2340	N	0.10809	0.05	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.43081	-0.9413	10	0.11794	T	0.64	-0.2679	7.476	0.27376	0.6623:0.0:0.3377:0.0	.	88	Q15738	NSDHL_HUMAN	Q	88	ENSP00000359297:R88Q;ENSP00000391854:R88Q;ENSP00000396266:R88Q	ENSP00000359297:R88Q	R	+	2	0	NSDHL	151769619	0.777000	0.28628	0.143000	0.22291	0.204000	0.24138	1.632000	0.37102	-0.095000	0.12351	-0.521000	0.04368	CGA	NSDHL	-	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like,pfam_NmrA	ENSG00000147383		0.498	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSDHL	HGNC	protein_coding	OTTHUMT00000060927.1	50	0.00	0	G	NM_015922		152018963	152018963	+1	no_errors	ENST00000370274	ensembl	human	known	69_37n	missense	7	56.25	9	SNP	0.396	A
OR5P2	120065	genome.wustl.edu	37	11	7818269	7818269	+	Missense_Mutation	SNP	G	G	A			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr11:7818269G>A	ENST00000329434.2	-	1	251	c.221C>T	c.(220-222)aCa>aTa	p.T74I	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CATGTTGGGTGTGACAGAAGA	0.428																																						dbGAP											0													84.0	103.0	97.0					11																	7818269		2096	4292	6388	-	-	-	SO:0001583	missense	0			AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.221C>T	11.37:g.7818269G>A	ENSP00000331823:p.Thr74Ile		Q3MIS8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T74I	ENST00000329434.2	37	c.221	CCDS7782.1	11	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439569	0.63067	.	.	ENSG00000183303	ENST00000329434	T	0.02579	4.24	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.04452	0.0122	L	0.28649	0.875	0.32882	D	0.510666	P	0.44816	0.844	P	0.48089	0.566	T	0.07986	-1.0744	10	0.72032	D	0.01	-40.1243	10.1694	0.42900	0.0874:0.0:0.9126:0.0	.	74	Q8WZ92	OR5P2_HUMAN	I	74	ENSP00000331823:T74I	ENSP00000331823:T74I	T	-	2	0	OR5P2	7774845	0.006000	0.16342	1.000000	0.80357	0.803000	0.45373	1.951000	0.40333	2.868000	0.98415	0.555000	0.69702	ACA	OR5P2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000183303		0.428	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5P2	HGNC	protein_coding	OTTHUMT00000385696.1	49	0.00	0	G	NM_153444		7818269	7818269	-1	no_errors	ENST00000329434	ensembl	human	known	69_37n	missense	24	31.43	11	SNP	1.000	A
P2RY8	286530	genome.wustl.edu	37	X	1585397	1585397	+	Missense_Mutation	SNP	T	T	G			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chrX:1585397T>G	ENST00000381297.4	-	2	265	c.55A>C	c.(55-57)Aac>Cac	p.N19H	P2RY8_ENST00000460672.1_5'UTR	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATCGCCGGGTTCCGCAGCATC	0.697			T	CRLF2	"""B-ALL, Downs associated ALL"""																																	dbGAP		Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	"""purinergic receptor P2Y, G-protein coupled, 8"""		L	0													33.0	38.0	36.0					X																	1585397		2203	4294	6497	-	-	-	SO:0001583	missense	0			AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.55A>C	X.37:g.1585397T>G	ENSP00000370697:p.Asn19His			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Protea_act_rcpt	p.N19H	ENST00000381297.4	37	c.55	CCDS14115.1	X	.	.	.	.	.	.	.	.	.	.	t	7.670	0.686730	0.14973	.	.	ENSG00000182162	ENST00000381297	T	0.37411	1.2	1.87	0.435	0.16544	.	0.433609	0.20466	U	0.091800	T	0.23649	0.0572	N	0.08118	0	0.09310	N	1	D	0.57257	0.979	P	0.52710	0.707	T	0.18967	-1.0320	10	0.33141	T	0.24	.	6.5672	0.22519	0.0:0.1379:0.0:0.8621	.	19	Q86VZ1	P2RY8_HUMAN	H	19	ENSP00000370697:N19H	ENSP00000370697:N19H	N	-	1	0	P2RY8	1545397	0.169000	0.23002	0.106000	0.21319	0.016000	0.09150	0.794000	0.26958	-0.434000	0.07275	0.230000	0.17803	AAC	P2RY8	-	prints_Protea_act_rcpt	ENSG00000182162		0.697	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY8	HGNC	protein_coding	OTTHUMT00000055602.1	85	0.00	0	T	NM_178129		1585397	1585397	-1	no_errors	ENST00000381297	ensembl	human	known	69_37n	missense	18	30.77	8	SNP	0.011	G
PIK3CA	5290	genome.wustl.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56.0	56.0	56.0					3																	178936082		1809	4069	5878	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	64	0.00	0	G			178936082	178936082	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	19	32.14	9	SNP	1.000	A
PLK2	10769	genome.wustl.edu	37	5	57754229	57754229	+	Missense_Mutation	SNP	G	G	C	rs201835367		TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr5:57754229G>C	ENST00000274289.3	-	4	922	c.622C>G	c.(622-624)Cta>Gta	p.L208V	PLK2_ENST00000502671.1_5'Flank	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	208	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GACTTACCTAGTTTGAGATCT	0.378																																						dbGAP											0													91.0	88.0	89.0					5																	57754229		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.622C>G	5.37:g.57754229G>C	ENSP00000274289:p.Leu208Val		O60679|Q96CV7|Q9UE61	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom	p.L208V	ENST00000274289.3	37	c.622	CCDS3974.1	5	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569540	0.65765	.	.	ENSG00000145632	ENST00000274289;ENST00000537944;ENST00000442330	T	0.25250	1.81	5.68	2.5	0.30297	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.46444	0.1393	M	0.70595	2.14	0.58432	D	0.999998	D;P	0.76494	0.999;0.95	D;P	0.91635	0.999;0.905	T	0.45145	-0.9281	10	0.87932	D	0	.	10.345	0.43901	0.2948:0.0:0.7052:0.0	.	110;208	B7Z9B4;Q9NYY3	.;PLK2_HUMAN	V	208;208;194	ENSP00000274289:L208V	ENSP00000274289:L208V	L	-	1	2	PLK2	57789986	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.820000	0.39032	0.761000	0.33130	0.563000	0.77884	CTA	PLK2	-	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	ENSG00000145632		0.378	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK2	HGNC	protein_coding	OTTHUMT00000214150.1	75	0.00	0	G	NM_006622		57754229	57754229	-1	no_errors	ENST00000274289	ensembl	human	known	69_37n	missense	10	54.55	12	SNP	1.000	C
PPP1R8	5511	genome.wustl.edu	37	1	28176726	28176726	+	Silent	SNP	C	C	T			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr1:28176726C>T	ENST00000311772.5	+	7	883	c.825C>T	c.(823-825)ggC>ggT	p.G275G	PPP1R8_ENST00000373931.4_Silent_p.G133G|PPP1R8_ENST00000236412.7_Silent_p.G51G|PPP1R8_ENST00000486634.1_3'UTR	NM_014110.4	NP_054829.2	Q12972	PP1R8_HUMAN	protein phosphatase 1, regulatory subunit 8	275					cell proliferation (GO:0008283)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|protein phosphatase type 1 regulator activity (GO:0008599)|protein serine/threonine phosphatase inhibitor activity (GO:0004865)|ribonuclease E activity (GO:0008995)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		GTGAAGCAGGCTCCCAGCCAC	0.617																																						dbGAP											0													98.0	96.0	96.0					1																	28176726		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF061959	CCDS311.1, CCDS312.1, CCDS313.1	1p35.3	2012-04-17	2011-10-04		ENSG00000117751	ENSG00000117751		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9296	protein-coding gene	gene with protein product	"""RNase E"", ""nuclear subunit of PP-1"", ""nuclear inhibitor of protein phosphatase-1"", ""activator of RNA decay"", ""protein phosphatase 1 regulatory subunit 8"""	602636	"""protein phosphatase 1, regulatory (inhibitor) subunit 8"""			7524097, 8473324	Standard	NM_014110		Approved	ard-1, NIPP-1, PRO2047, ARD1, NIPP1	uc001bov.2	Q12972	OTTHUMG00000003734	ENST00000311772.5:c.825C>T	1.37:g.28176726C>T			Q5TEJ2|Q5TEJ4|Q5TIF2|Q6PKF6|Q9UBH1|Q9UBZ0	Silent	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.G275	ENST00000311772.5	37	c.825	CCDS311.1	1																																																																																			PPP1R8	-	NULL	ENSG00000117751		0.617	PPP1R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R8	HGNC	protein_coding	OTTHUMT00000010528.1	60	0.00	0	C	NM_014110		28176726	28176726	+1	no_errors	ENST00000311772	ensembl	human	known	69_37n	silent	12	36.84	7	SNP	1.000	T
PZP	5858	genome.wustl.edu	37	12	9333694	9333694	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr12:9333694delG	ENST00000261336.2	-	15	1752	c.1724delC	c.(1723-1725)ccafs	p.P575fs	PZP_ENST00000381997.2_Frame_Shift_Del_p.P444fs	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	575					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ATGTGAGGCTGGGGGACTTTG	0.552																																					Melanoma(125;1402 1695 4685 34487 38571)	dbGAP											0													81.0	62.0	69.0					12																	9333694		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.1724delC	12.37:g.9333694delG	ENSP00000261336:p.Pro575fs		A6ND27|Q15273|Q2NKL2|Q7M4N7	Frame_Shift_Del	DEL	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.P575fs	ENST00000261336.2	37	c.1724	CCDS8600.1	12																																																																																			PZP	-	pfam_A2M_N_2	ENSG00000126838		0.552	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	HGNC	protein_coding	OTTHUMT00000337624.1	58	0.00	0	G	NM_002864		9333694	9333694	-1	no_errors	ENST00000261336	ensembl	human	known	69_37n	frame_shift_del	25	39.02	16	DEL	0.737	-
RPL5	6125	genome.wustl.edu	37	1	93298556	93298556	+	Intron	SNP	C	C	T			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr1:93298556C>T	ENST00000370321.3	+	2	93					NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5						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)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|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)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		tggagcagtgcttcgcaaaag	0.408																																						dbGAP											0													53.0	50.0	51.0					1																	93298556		1918	4131	6049	-	-	-	SO:0001627	intron_variant	0			U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"""L ribosomal proteins"""	10360	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 135"""	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.4-390C>T	1.37:g.93298556C>T			Q32LZ3|Q53HH6|Q9H3F4	RNA	SNP	-	NULL	ENST00000370321.3	37	NULL	CCDS741.1	1																																																																																			RPL5	-	-	ENSG00000122406		0.408	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL5	HGNC	protein_coding	OTTHUMT00000030058.2	74	0.00	0	C	NM_000969		93298556	93298556	+1	no_errors	ENST00000461952	ensembl	human	known	69_37n	rna	47	18.97	11	SNP	0.000	T
SART1	9092	genome.wustl.edu	37	11	65745270	65745270	+	Missense_Mutation	SNP	A	A	G			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr11:65745270A>G	ENST00000312397.5	+	17	2164	c.2072A>G	c.(2071-2073)tAc>tGc	p.Y691C		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	691					cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AGGGAGGAATACCGAGGCTTC	0.582																																						dbGAP											0													94.0	82.0	86.0					11																	65745270		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"""	605941	"""squamous cell carcinoma antigen recognised by T cells"""			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771	ENST00000312397.5:c.2072A>G	11.37:g.65745270A>G	ENSP00000310448:p.Tyr691Cys		A6NDN1|Q53GB5	Missense_Mutation	SNP	pfam_SART_1	p.Y691C	ENST00000312397.5	37	c.2072	CCDS31611.1	11	.	.	.	.	.	.	.	.	.	.	A	13.84	2.358081	0.41801	.	.	ENSG00000175467	ENST00000312397;ENST00000542816	T	0.26223	1.75	4.26	3.13	0.36017	.	0.326617	0.29273	N	0.012636	T	0.49695	0.1572	M	0.86097	2.795	0.54753	D	0.999982	D	0.76494	0.999	D	0.73380	0.98	T	0.50154	-0.8861	10	0.87932	D	0	-11.9884	7.7624	0.28959	0.8986:0.0:0.1014:0.0	.	691	O43290	SNUT1_HUMAN	C	691;533	ENSP00000310448:Y691C	ENSP00000310448:Y691C	Y	+	2	0	SART1	65501846	1.000000	0.71417	0.991000	0.47740	0.117000	0.20001	5.411000	0.66386	0.694000	0.31654	0.402000	0.26972	TAC	SART1	-	pfam_SART_1	ENSG00000175467		0.582	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SART1	HGNC	protein_coding	OTTHUMT00000391409.1	67	0.00	0	A			65745270	65745270	+1	no_errors	ENST00000312397	ensembl	human	known	69_37n	missense	23	20.69	6	SNP	1.000	G
SLC44A2	57153	genome.wustl.edu	37	19	10747113	10747114	+	Frame_Shift_Ins	INS	-	-	C	rs141626156		TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr19:10747113_10747114insC	ENST00000335757.5	+	15	1724_1725	c.1348_1349insC	c.(1348-1350)gccfs	p.A450fs	SLC44A2_ENST00000407327.4_Frame_Shift_Ins_p.A448fs|SLC44A2_ENST00000586078.1_Frame_Shift_Ins_p.A450fs			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	450					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GATCTTCAATGCCTTCATGTTC	0.639																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"""Solute carriers"""	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.1350dupC	19.37:g.10747115_10747115dupC	ENSP00000336888:p.Ala450fs		B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Frame_Shift_Ins	INS	pfam_Choline_transptr-like	p.F451fs	ENST00000335757.5	37	c.1348_1349	CCDS12245.1	19																																																																																			SLC44A2	-	pfam_Choline_transptr-like	ENSG00000129353		0.639	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC44A2	HGNC	protein_coding	OTTHUMT00000452045.1	78	0.00	0	-			10747113	10747114	+1	no_errors	ENST00000335757	ensembl	human	known	69_37n	frame_shift_ins	28	36.36	16	INS	0.998:0.993	C
SUCO	51430	genome.wustl.edu	37	1	172547491	172547491	+	Missense_Mutation	SNP	A	A	G			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr1:172547491A>G	ENST00000263688.3	+	14	1613	c.1394A>G	c.(1393-1395)tAt>tGt	p.Y465C	SUCO_ENST00000610051.1_Missense_Mutation_p.Y428C|SUCO_ENST00000608151.1_Missense_Mutation_p.Y617C|SUCO_ENST00000367723.4_Missense_Mutation_p.Y616C	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	465					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											GATTCCCAGTATCACTCAGAA	0.343																																						dbGAP											0													123.0	118.0	120.0					1																	172547491		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.1394A>G	1.37:g.172547491A>G	ENSP00000263688:p.Tyr465Cys		B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.Y617C	ENST00000263688.3	37	c.1850	CCDS1303.1	1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.319111	0.81469	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.55016	0.1894	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.89917	1.0;0.981;1.0;1.0	D;D;D;D	0.91635	0.996;0.977;0.997;0.999	T	0.63359	-0.6655	9	0.59425	D	0.04	-14.0886	14.3215	0.66489	1.0:0.0:0.0:0.0	.	428;465;617;465	B4DYM4;B4DZJ3;Q5H945;Q9UBS9	.;.;.;OSPT_HUMAN	C	617;465	.	ENSP00000263688:Y465C	Y	+	2	0	C1orf9	170814114	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.787000	0.91830	2.070000	0.61991	0.460000	0.39030	TAT	SUCO	-	NULL	ENSG00000094975		0.343	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCO	HGNC	protein_coding	OTTHUMT00000084273.1	65	0.00	0	A	NM_016227		172547491	172547491	+1	no_errors	ENST00000367723	ensembl	human	known	69_37n	missense	30	34.69	17	SNP	1.000	G
SULT2B1	6820	genome.wustl.edu	37	19	49102586	49102586	+	Missense_Mutation	SNP	C	C	T			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr19:49102586C>T	ENST00000201586.2	+	7	1199	c.1021C>T	c.(1021-1023)Cgt>Tgt	p.R341C	SULT2B1_ENST00000323090.4_Missense_Mutation_p.R326C	NM_177973.1	NP_814444.1	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	341	Pro/Ser-rich.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	alcohol sulfotransferase activity (GO:0004027)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		CAGCCTGGAGCGTGAGcccag	0.667																																						dbGAP											0													34.0	24.0	28.0					19																	49102586		2190	4295	6485	-	-	-	SO:0001583	missense	0			U92314	CCDS12723.1, CCDS12724.1	19q13.3	2008-02-05				ENSG00000088002		"""Sulfotransferases, cytosolic"""	11459	protein-coding gene	gene with protein product		604125				9799594	Standard	NM_177973		Approved	HSST2	uc002pjl.3	O00204		ENST00000201586.2:c.1021C>T	19.37:g.49102586C>T	ENSP00000201586:p.Arg341Cys		O00205|O75814	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.R341C	ENST00000201586.2	37	c.1021	CCDS12723.1	19	.	.	.	.	.	.	.	.	.	.	C	8.608	0.888365	0.17540	.	.	ENSG00000088002	ENST00000201586;ENST00000323090	T;T	0.42513	0.97;0.97	1.31	-2.63	0.06133	.	.	.	.	.	T	0.15435	0.0372	N	0.08118	0	0.09310	N	1	B;B	0.33807	0.426;0.301	B;B	0.08055	0.003;0.001	T	0.14924	-1.0455	9	0.59425	D	0.04	.	4.6974	0.12811	0.3503:0.6497:0.0:0.0	.	326;341	O00204-2;O00204	.;ST2B1_HUMAN	C	341;326	ENSP00000201586:R341C;ENSP00000312880:R326C	ENSP00000201586:R341C	R	+	1	0	SULT2B1	53794398	0.000000	0.05858	0.026000	0.17262	0.106000	0.19336	-0.554000	0.06006	0.183000	0.20059	0.186000	0.17326	CGT	SULT2B1	-	NULL	ENSG00000088002		0.667	SULT2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SULT2B1	HGNC	protein_coding	OTTHUMT00000466140.1	80	0.00	0	C	NM_004605		49102586	49102586	+1	no_errors	ENST00000201586	ensembl	human	known	69_37n	missense	26	40.00	18	SNP	0.172	T
TAZ	6901	genome.wustl.edu	37	X	153648448	153648448	+	Frame_Shift_Del	DEL	G	G	-	rs372682805		TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chrX:153648448delG	ENST00000369776.4	+	5	539	c.454delG	c.(454-456)gggfs	p.G152fs	TAZ_ENST00000351413.4_Intron|TAZ_ENST00000369790.4_Intron|TAZ_ENST00000498029.1_Intron|TAZ_ENST00000350743.4_Intron|TAZ_ENST00000475699.1_Intron|TAZ_ENST00000299328.5_Intron			Q9GZV5	WWTR1_HUMAN	tafazzin	59	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCTGGGGACGGGGACAGAGA	0.647																																						dbGAP											0													91.0	88.0	89.0					X																	153648448		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X92762	CCDS14748.1, CCDS14749.1, CCDS14750.1, CCDS35450.1	Xq28	2014-09-17	2008-07-29		ENSG00000102125	ENSG00000102125			11577	protein-coding gene	gene with protein product	"""Barth syndrome"""	300394	"""endocardial fibroelastosis 2"", ""cardiomyopathy, dilated 3A (X-linked)"""	CMD3A, EFE2, EFE		8042670	Standard	NM_000116		Approved	BTHS, XAP-2, G4.5	uc004fkx.3	Q16635	OTTHUMG00000033190	ENST00000369776.4:c.454delG	X.37:g.153648448delG	ENSP00000358791:p.Gly152fs		D3DNH7|Q8N3P2|Q9Y3W6	Frame_Shift_Del	DEL	pfam_Acyltransferase,prints_Tafazzin	p.D153fs	ENST00000369776.4	37	c.454		X																																																																																			TAZ	-	NULL	ENSG00000102125		0.647	TAZ-006	PUTATIVE	basic	protein_coding	TAZ	HGNC	protein_coding	OTTHUMT00000080943.2	125	0.00	0	G			153648448	153648448	+1	no_errors	ENST00000369776	ensembl	human	putative	69_37n	frame_shift_del	38	30.36	17	DEL	0.000	-
TCEB3B	51224	genome.wustl.edu	37	18	44561453	44561453	+	Silent	SNP	G	G	A			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr18:44561453G>A	ENST00000332567.4	-	1	535	c.183C>T	c.(181-183)caC>caT	p.H61H	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	61	TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AGTCGCCCACGTGCTGGTGCT	0.602																																						dbGAP											0													16.0	17.0	16.0					18																	44561453		2195	4273	6468	-	-	-	SO:0001819	synonymous_variant	0			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.183C>T	18.37:g.44561453G>A			Q9P2V9	Silent	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.H61	ENST00000332567.4	37	c.183	CCDS11932.1	18																																																																																			TCEB3B	-	pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	ENSG00000206181		0.602	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	HGNC	protein_coding	OTTHUMT00000255900.1	42	0.00	0	G	NM_016427		44561453	44561453	-1	no_errors	ENST00000332567	ensembl	human	known	69_37n	silent	13	53.57	15	SNP	0.000	A
TMEM30B	161291	genome.wustl.edu	37	14	61748417	61748417	+	5'UTR	SNP	G	G	A			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr14:61748417G>A	ENST00000555868.1	-	0	141				TMEM30B_ENST00000557163.1_5'Flank|TMEM30B_ENST00000355702.2_5'Flank	NM_001017970.2	NP_001017970.1	Q3MIR4	CC50B_HUMAN	transmembrane protein 30B						lipid transport (GO:0006869)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)		GAAGATTTCAGATCCTTAATC	0.498																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AK091169	CCDS32093.1	14q23.1	2006-09-20				ENSG00000182107			27254	protein-coding gene	gene with protein product		611029				15375526	Standard	NM_001017970		Approved	CDC50B	uc001xfl.3	Q3MIR4		ENST00000555868.1:c.-552C>T	14.37:g.61748417G>A			B3KR84|Q14D00	RNA	SNP	-	NULL	ENST00000555868.1	37	NULL	CCDS32093.1	14																																																																																			TMEM30B	-	-	ENSG00000182107		0.498	TMEM30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM30B	HGNC	protein_coding	OTTHUMT00000413358.1	86	0.00	0	G	XM_090844		61748417	61748417	-1	no_errors	ENST00000554497	ensembl	human	known	69_37n	rna	21	34.38	11	SNP	0.000	A
TMEM87A	25963	genome.wustl.edu	37	15	42564278	42564278	+	Missense_Mutation	SNP	G	G	A			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr15:42564278G>A	ENST00000389834.4	-	2	452	c.188C>T	c.(187-189)aCc>aTc	p.T63I	TMEM87A_ENST00000448392.1_Intron|TMEM87A_ENST00000307216.6_Missense_Mutation_p.T63I|GANC_ENST00000440615.2_5'Flank|TMEM87A_ENST00000568432.1_5'UTR|GANC_ENST00000566442.1_5'Flank|GANC_ENST00000318010.8_5'Flank	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	63						integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		GAAGATAGTGGTATTTCTGAA	0.279																																						dbGAP											0													40.0	41.0	41.0					15																	42564278		2202	4294	6496	-	-	-	SO:0001583	missense	0			AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.188C>T	15.37:g.42564278G>A	ENSP00000374484:p.Thr63Ile		Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Missense_Mutation	SNP	pfam_TM_rcpt_euk	p.T63I	ENST00000389834.4	37	c.188	CCDS32205.1	15	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841882	0.71488	.	.	ENSG00000103978	ENST00000389834;ENST00000535305;ENST00000307216	.	.	.	5.25	5.25	0.73442	.	0.055536	0.64402	D	0.000001	T	0.64616	0.2614	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	0.981;1.0	P;D	0.83275	0.69;0.996	T	0.67503	-0.5654	9	0.87932	D	0	-13.0811	14.2311	0.65892	0.0:0.0:1.0:0.0	.	63;63	Q8NBN3;Q8NBN3-2	TM87A_HUMAN;.	I	63;39;63	.	ENSP00000305894:T63I	T	-	2	0	TMEM87A	40351570	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.979000	0.63806	2.730000	0.93505	0.650000	0.86243	ACC	TMEM87A	-	NULL	ENSG00000103978		0.279	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TMEM87A	HGNC	protein_coding	OTTHUMT00000420482.2	47	0.00	0	G	NM_015497		42564278	42564278	-1	no_errors	ENST00000389834	ensembl	human	known	69_37n	missense	13	27.78	5	SNP	1.000	A
WDR86	349136	genome.wustl.edu	37	7	151093174	151093174	+	Missense_Mutation	SNP	G	G	T			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr7:151093174G>T	ENST00000334493.6	-	3	844	c.414C>A	c.(412-414)aaC>aaA	p.N138K	WDR86_ENST00000469830.2_Missense_Mutation_p.N138K|WDR86_ENST00000477459.1_Missense_Mutation_p.N10K|WDR86_ENST00000463000.1_5'Flank	NM_001284262.1|NM_198285.2	NP_001271191.1|NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	138										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCAGCACGCAGTTGCGGTGGC	0.677																																						dbGAP											0													20.0	24.0	23.0					7																	151093174		2194	4290	6484	-	-	-	SO:0001583	missense	0			AK125347	CCDS5925.2, CCDS64805.1, CCDS64806.1, CCDS75680.1	7q36.1	2013-01-09			ENSG00000187260	ENSG00000187260		"""WD repeat domain containing"""	28020	protein-coding gene	gene with protein product						12477932	Standard	NM_198285		Approved		uc003wkb.2	Q86TI4	OTTHUMG00000150764	ENST00000334493.6:c.414C>A	7.37:g.151093174G>T	ENSP00000335522:p.Asn138Lys		B4DJF1|C9JAJ5|C9JXE3|Q3KNT1|Q6ZUS8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N10K	ENST00000334493.6	37	c.30	CCDS5925.2	7	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886456	0.33348	.	.	ENSG00000187260	ENST00000334493;ENST00000477459;ENST00000469830	T;T;T	0.80824	0.24;-1.42;0.24	5.0	1.68	0.24146	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000013	T	0.80132	0.4567	L	0.31371	0.925	0.31143	N	0.706366	D;P;B;P	0.76494	0.999;0.896;0.256;0.536	D;P;B;B	0.83275	0.996;0.548;0.349;0.208	T	0.75750	-0.3208	9	.	.	.	-58.815	7.6521	0.28354	0.2156:0.0:0.6542:0.1302	.	138;10;138;96	B4DJF1;C9JAJ5;Q86TI4;D3DX12	.;.;WDR86_HUMAN;.	K	138;10;138	ENSP00000335522:N138K;ENSP00000417512:N10K;ENSP00000419162:N138K	.	N	-	3	2	WDR86	150724107	1.000000	0.71417	0.999000	0.59377	0.017000	0.09413	3.331000	0.52075	0.515000	0.28320	-0.350000	0.07774	AAC	WDR86	-	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000187260		0.677	WDR86-003	NOVEL	basic|appris_principal|CCDS	protein_coding	WDR86	HGNC	protein_coding	OTTHUMT00000319999.3	167	0.00	0	G	NM_198285		151093174	151093174	-1	no_errors	ENST00000477459	ensembl	human	known	69_37n	missense	88	16.98	18	SNP	0.998	T
ZFP37	7539	genome.wustl.edu	37	9	115805355	115805355	+	Missense_Mutation	SNP	T	T	G			TCGA-OL-A5S0-01A-11D-A28B-09	TCGA-OL-A5S0-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	972f9c5a-5366-41b2-8d67-2b50008c8bba	7b264aa3-b120-4e6d-ae14-4ac33fc2d620	g.chr9:115805355T>G	ENST00000374227.3	-	4	1570	c.1543A>C	c.(1543-1545)Agt>Cgt	p.S515R	ZFP37_ENST00000553380.1_Missense_Mutation_p.S530R|ZFP37_ENST00000555206.1_Missense_Mutation_p.S516R	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	515					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TCAAAGGGACTTTCACCTGTA	0.373																																						dbGAP											0													70.0	70.0	70.0					9																	115805355		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.1543A>C	9.37:g.115805355T>G	ENSP00000363344:p.Ser515Arg		A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S530R	ENST00000374227.3	37	c.1588	CCDS6787.1	9	.	.	.	.	.	.	.	.	.	.	T	15.91	2.972368	0.53614	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.16196	2.36;2.36;2.36	4.32	3.14	0.36123	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.263997	0.27294	N	0.020039	T	0.03915	0.0110	N	0.00256	-1.76	0.26518	N	0.974485	B;B;B	0.24823	0.112;0.112;0.026	B;B;B	0.17722	0.019;0.019;0.017	T	0.27606	-1.0069	10	0.51188	T	0.08	-8.0642	8.4962	0.33130	0.1802:0.0:0.0:0.8198	.	516;530;515	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	R	515;516;530	ENSP00000363344:S515R;ENSP00000451310:S516R;ENSP00000452552:S530R	ENSP00000363344:S515R	S	-	1	0	ZFP37	114845176	0.740000	0.28207	1.000000	0.80357	0.993000	0.82548	3.860000	0.55995	0.936000	0.37367	0.533000	0.62120	AGT	ZFP37	-	pfscan_Znf_C2H2	ENSG00000136866		0.373	ZFP37-001	KNOWN	basic|CCDS	protein_coding	ZFP37	HGNC	protein_coding	OTTHUMT00000055439.1	56	0.00	0	T	NM_003408		115805355	115805355	-1	no_errors	ENST00000553380	ensembl	human	known	69_37n	missense	35	10.26	4	SNP	1.000	G
