#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	87145943	87145943	+	Missense_Mutation	SNP	C	C	T	rs374210543		TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr7:87145943C>T	ENST00000265724.3	-	25	3383	c.2966G>A	c.(2965-2967)gGg>gAg	p.G989E	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.G925E	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	989	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	ACTGACTTGCCCCACGGCCAT	0.443																																						dbGAP											0													131.0	111.0	118.0					7																	87145943		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2966G>A	7.37:g.87145943C>T	ENSP00000265724:p.Gly989Glu		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.G989E	ENST00000265724.3	37	c.2966	CCDS5608.1	7	.	.	.	.	.	.	.	.	.	.	C	34	5.377451	0.95945	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.93307	-3.2;-3.2	6.03	6.03	0.97812	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.097711	0.64402	D	0.000001	D	0.98108	0.9376	H	0.97103	3.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98701	1.0700	10	0.87932	D	0	-17.4987	19.5478	0.95307	0.0:1.0:0.0:0.0	.	925;989	B5AK60;P08183	.;MDR1_HUMAN	E	770;989;925	ENSP00000265724:G989E;ENSP00000444095:G925E	ENSP00000265724:G989E	G	-	2	0	ABCB1	86983879	1.000000	0.71417	0.925000	0.36789	0.966000	0.64601	7.717000	0.84732	2.868000	0.98415	0.555000	0.69702	GGG	ABCB1	-	superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000085563		0.443	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2	141	0.00	0	C	NM_000927		87145943	87145943	-1	no_errors	ENST00000265724	ensembl	human	known	69_37n	missense	168	30.29	73	SNP	1.000	T
ABCC12	94160	genome.wustl.edu	37	16	48172233	48172233	+	Silent	SNP	T	T	C			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr16:48172233T>C	ENST00000311303.3	-	6	1230	c.885A>G	c.(883-885)acA>acG	p.T295T	ABCC12_ENST00000448542.1_Silent_p.T295T|ABCC12_ENST00000416054.1_Silent_p.T295T	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	295	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CTCGCTTGTCTGTCACCAAAA	0.423																																						dbGAP											0													108.0	97.0	101.0					16																	48172233		2201	4300	6501	-	-	-	SO:0001819	synonymous_variant	0			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.885A>G	16.37:g.48172233T>C			Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.T295	ENST00000311303.3	37	c.885	CCDS10730.1	16																																																																																			ABCC12	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000140798		0.423	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1	187	0.00	0	T	NM_033226		48172233	48172233	-1	no_errors	ENST00000311303	ensembl	human	known	69_37n	silent	164	32.23	78	SNP	1.000	C
ADAMTS5	11096	genome.wustl.edu	37	21	28315764	28315764	+	Missense_Mutation	SNP	T	T	A			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr21:28315764T>A	ENST00000284987.5	-	3	1461	c.1340A>T	c.(1339-1341)gAt>gTt	p.D447V		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	447	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CTTAGATGCATCAATGCTGGT	0.448																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	dbGAP											0													125.0	105.0	112.0					21																	28315764		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1340A>T	21.37:g.28315764T>A	ENSP00000284987:p.Asp447Val		Q52LV4|Q9UKP2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS	p.D447V	ENST00000284987.5	37	c.1340	CCDS13579.1	21	.	.	.	.	.	.	.	.	.	.	T	18.75	3.690598	0.68271	.	.	ENSG00000154736	ENST00000284987	T	0.03386	3.95	5.4	5.4	0.78164	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.047507	0.85682	D	0.000000	T	0.08403	0.0209	L	0.59967	1.855	0.80722	D	1	P	0.34562	0.457	B	0.40864	0.342	T	0.08638	-1.0712	10	0.49607	T	0.09	.	15.65	0.77084	0.0:0.0:0.0:1.0	.	447	Q9UNA0	ATS5_HUMAN	V	447	ENSP00000284987:D447V	ENSP00000284987:D447V	D	-	2	0	ADAMTS5	27237635	1.000000	0.71417	0.861000	0.33841	0.576000	0.36127	7.479000	0.81095	2.282000	0.76494	0.529000	0.55759	GAT	ADAMTS5	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000154736		0.448	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS5	HGNC	protein_coding	OTTHUMT00000171648.1	160	0.00	0	T			28315764	28315764	-1	no_errors	ENST00000284987	ensembl	human	known	69_37n	missense	382	20.75	100	SNP	1.000	A
ATP2B2	491	genome.wustl.edu	37	3	10417218	10417221	+	Frame_Shift_Del	DEL	GCAC	GCAC	-	rs540447863		TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	GCAC	GCAC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr3:10417218_10417221delGCAC	ENST00000352432.4	-	10	1378_1381	c.1309_1312delGTGC	c.(1309-1314)gtgcagfs	p.VQ437fs	ATP2B2_ENST00000383800.4_Frame_Shift_Del_p.VQ392fs|ATP2B2_ENST00000397077.1_Frame_Shift_Del_p.VQ392fs|ATP2B2_ENST00000343816.4_Frame_Shift_Del_p.VQ423fs|ATP2B2_ENST00000360273.2_Frame_Shift_Del_p.VQ437fs			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	437					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ACAAAGTACTGCACGTAGACGGGC	0.583																																					Ovarian(125;1619 1709 15675 19819 38835)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1309_1312delGTGC	3.37:g.10417218_10417221delGCAC	ENSP00000324172:p.Val437fs		O00766|Q12994|Q16818	Frame_Shift_Del	DEL	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.V437fs	ENST00000352432.4	37	c.1312_1309	CCDS33701.1	3																																																																																			ATP2B2	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000157087		0.583	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2	35	0.00	0	GCAC	NM_001683		10417218	10417221	-1	no_errors	ENST00000352432	ensembl	human	known	69_37n	frame_shift_del	85	21.30	23	DEL	1.000:1.000:1.000:1.000	-
ATP2B2	491	genome.wustl.edu	37	3	10417224	10417224	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr3:10417224delA	ENST00000352432.4	-	10	1375	c.1306delT	c.(1306-1308)tacfs	p.Y436fs	ATP2B2_ENST00000383800.4_Frame_Shift_Del_p.Y391fs|ATP2B2_ENST00000397077.1_Frame_Shift_Del_p.Y391fs|ATP2B2_ENST00000343816.4_Frame_Shift_Del_p.Y422fs|ATP2B2_ENST00000360273.2_Frame_Shift_Del_p.Y436fs			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	436					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TACTGCACGTAGACGGGCGTG	0.587																																					Ovarian(125;1619 1709 15675 19819 38835)	dbGAP											0													92.0	82.0	85.0					3																	10417224		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1306delT	3.37:g.10417224delA	ENSP00000324172:p.Tyr436fs		O00766|Q12994|Q16818	Frame_Shift_Del	DEL	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.Y436fs	ENST00000352432.4	37	c.1306	CCDS33701.1	3																																																																																			ATP2B2	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000157087		0.587	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2	34	0.00	0	A	NM_001683		10417224	10417224	-1	no_errors	ENST00000352432	ensembl	human	known	69_37n	frame_shift_del	77	23.00	23	DEL	1.000	-
ATP2B2	491	genome.wustl.edu	37	3	10417227	10417230	+	Frame_Shift_Del	DEL	CGGG	CGGG	-	rs201409433|rs374649471		TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	CGGG	CGGG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr3:10417227_10417230delCGGG	ENST00000352432.4	-	10	1369_1372	c.1300_1303delCCCG	c.(1300-1305)cccgtcfs	p.PV434fs	ATP2B2_ENST00000383800.4_Frame_Shift_Del_p.PV389fs|ATP2B2_ENST00000397077.1_Frame_Shift_Del_p.PV389fs|ATP2B2_ENST00000343816.4_Frame_Shift_Del_p.PV420fs|ATP2B2_ENST00000360273.2_Frame_Shift_Del_p.PV434fs			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	434					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGCACGTAGACGGGCGTGCACTCA	0.588																																					Ovarian(125;1619 1709 15675 19819 38835)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1300_1303delCCCG	3.37:g.10417227_10417230delCGGG	ENSP00000324172:p.Pro434fs		O00766|Q12994|Q16818	Frame_Shift_Del	DEL	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.P434fs	ENST00000352432.4	37	c.1303_1300	CCDS33701.1	3																																																																																			ATP2B2	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000157087		0.588	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2	33	0.00	0	CGGG	NM_001683		10417227	10417230	-1	no_errors	ENST00000352432	ensembl	human	known	69_37n	frame_shift_del	75	23.47	23	DEL	0.955:0.005:0.993:0.995	-
ATP2B2	491	genome.wustl.edu	37	3	10417234	10417235	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	GC	GC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr3:10417234_10417235delGC	ENST00000352432.4	-	10	1364_1365	c.1295_1296delGC	c.(1294-1296)tgcfs	p.C432fs	ATP2B2_ENST00000383800.4_Frame_Shift_Del_p.C387fs|ATP2B2_ENST00000397077.1_Frame_Shift_Del_p.C387fs|ATP2B2_ENST00000343816.4_Frame_Shift_Del_p.C418fs|ATP2B2_ENST00000360273.2_Frame_Shift_Del_p.C432fs			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	432					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						AGACGGGCGTGCACTCAGGCAG	0.579																																					Ovarian(125;1619 1709 15675 19819 38835)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1295_1296delGC	3.37:g.10417234_10417235delGC	ENSP00000324172:p.Cys432fs		O00766|Q12994|Q16818	Frame_Shift_Del	DEL	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.C432fs	ENST00000352432.4	37	c.1296_1295	CCDS33701.1	3																																																																																			ATP2B2	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA	ENSG00000157087		0.579	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2	32	0.00	0	GC	NM_001683		10417234	10417235	-1	no_errors	ENST00000352432	ensembl	human	known	69_37n	frame_shift_del	74	23.71	23	DEL	1.000:1.000	-
BACH2	60468	genome.wustl.edu	37	6	90660232	90660232	+	Missense_Mutation	SNP	G	G	C	rs201225316		TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr6:90660232G>C	ENST00000257749.4	-	7	2300	c.1593C>G	c.(1591-1593)gaC>gaG	p.D531E	BACH2_ENST00000343122.3_Missense_Mutation_p.D531E|BACH2_ENST00000537989.1_Missense_Mutation_p.D531E|RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	531						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CCCCGCTCCCGTCCTCCGCGT	0.622																																						dbGAP											0													58.0	60.0	60.0					6																	90660232		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1593C>G	6.37:g.90660232G>C	ENSP00000257749:p.Asp531Glu		E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_bZIP_1,pfam_bZIP_2,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.D531E	ENST00000257749.4	37	c.1593	CCDS5026.1	6	.	.	.	.	.	.	.	.	.	.	G	14.08	2.427908	0.43122	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.62788	-0.0;-0.0;-0.0	5.2	-10.4	0.00318	.	0.000000	0.85682	D	0.000000	T	0.44603	0.1301	L	0.29908	0.895	0.27614	N	0.948577	D	0.89917	1.0	D	0.81914	0.995	T	0.74262	-0.3722	10	0.17369	T	0.5	-3.4985	20.1502	0.98084	0.3683:0.0:0.6317:0.0	.	531	Q9BYV9	BACH2_HUMAN	E	531	ENSP00000257749:D531E;ENSP00000437473:D531E;ENSP00000345642:D531E	ENSP00000257749:D531E	D	-	3	2	BACH2	90716953	0.002000	0.14202	0.278000	0.24718	0.903000	0.53119	-1.093000	0.03362	-3.041000	0.00263	-0.459000	0.05422	GAC	BACH2	-	NULL	ENSG00000112182		0.622	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BACH2	HGNC	protein_coding	OTTHUMT00000041522.2	75	0.00	0	G	NM_021813		90660232	90660232	-1	no_errors	ENST00000257749	ensembl	human	known	69_37n	missense	22	57.69	30	SNP	0.258	C
BDKRB1	623	genome.wustl.edu	37	14	96730708	96730708	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr14:96730708G>A	ENST00000216629.6	+	3	1295	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	BDKRB1_ENST00000553356.1_Missense_Mutation_p.R230Q|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	230					cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		GCCTCCCTGCGAACGCGGGAG	0.582																																						dbGAP											0													71.0	65.0	67.0					14																	96730708		2203	4300	6503	-	-	-	SO:0001583	missense	0			L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"""GPCR / Class A : Bradykinin receptors"""	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000216629.6:c.689G>A	14.37:g.96730708G>A	ENSP00000216629:p.Arg230Gln		A8K7F5|Q546S7|Q8N0Y8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_BK_rcpt_B1,prints_7TM_GPCR_Rhodpsn,prints_Brdyknn_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.R230Q	ENST00000216629.6	37	c.689	CCDS9943.1	14	.	.	.	.	.	.	.	.	.	.	G	7.937	0.741858	0.15642	.	.	ENSG00000100739	ENST00000216629;ENST00000553356	T;T	0.42131	0.98;0.98	4.69	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	0.641780	0.14726	U	0.302041	T	0.40886	0.1135	L	0.51422	1.61	0.09310	N	1	B;P	0.47191	0.378;0.891	B;P	0.48921	0.064;0.595	T	0.14364	-1.0475	10	0.21540	T	0.41	-0.5443	6.6449	0.22929	0.2261:0.0:0.7739:0.0	.	230;230	G3V4Y2;P46663	.;BKRB1_HUMAN	Q	230	ENSP00000216629:R230Q;ENSP00000452064:R230Q	ENSP00000216629:R230Q	R	+	2	0	BDKRB1	95800461	0.098000	0.21812	0.005000	0.12908	0.196000	0.23810	1.470000	0.35354	0.975000	0.38392	0.456000	0.33151	CGA	BDKRB1	-	pfam_7TM_GPCR_Rhodpsn,prints_BK_rcpt_B1,prints_Brdyknn_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000100739		0.582	BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BDKRB1	HGNC	protein_coding	OTTHUMT00000413300.1	112	0.00	0	G			96730708	96730708	+1	no_errors	ENST00000216629	ensembl	human	known	69_37n	missense	14	88.33	106	SNP	0.000	A
BZRAP1	9256	genome.wustl.edu	37	17	56403701	56403701	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr17:56403701G>A	ENST00000343736.4	-	3	686	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	BZRAP1-AS1_ENST00000580515.1_RNA|BZRAP1-AS1_ENST00000578334.1_RNA|BZRAP1-AS1_ENST00000579527.1_RNA|BZRAP1_ENST00000268893.6_Missense_Mutation_p.R175C|BZRAP1_ENST00000355701.3_Missense_Mutation_p.R175C			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	175						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCTCCAGGCGCTTGGCAATG	0.622																																						dbGAP											0													92.0	87.0	88.0					17																	56403701		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.523C>T	17.37:g.56403701G>A	ENSP00000345824:p.Arg175Cys		O75111|Q8N5W3	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain	p.R175C	ENST00000343736.4	37	c.523	CCDS11605.1	17	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045281	0.75846	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.07800	3.16;3.16;3.16	5.28	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.28001	0.0690	M	0.75777	2.31	0.53005	D	0.999966	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.01401	-1.1364	10	0.87932	D	0	.	13.7726	0.63036	0.0:0.0:0.846:0.154	.	175;175;175	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	C	175	ENSP00000347929:R175C;ENSP00000345824:R175C;ENSP00000268893:R175C	ENSP00000268893:R175C	R	-	1	0	BZRAP1	53758700	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.188000	0.65093	2.487000	0.83934	0.561000	0.74099	CGC	BZRAP1	-	NULL	ENSG00000005379		0.622	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BZRAP1	HGNC	protein_coding	OTTHUMT00000443980.1	199	0.00	0	G	NM_004758		56403701	56403701	-1	no_errors	ENST00000355701	ensembl	human	known	69_37n	missense	51	83.90	271	SNP	1.000	A
CASP1	834	genome.wustl.edu	37	11	104905093	104905093	+	Missense_Mutation	SNP	T	T	C	rs201044584		TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr11:104905093T>C	ENST00000533400.1	-	2	151	c.116A>G	c.(115-117)gAg>gGg	p.E39G	CASP1_ENST00000594519.1_Intron|CASP1_ENST00000526568.1_Intron|CASP1_ENST00000598974.1_Missense_Mutation_p.E39G|CASP1_ENST00000593315.1_Missense_Mutation_p.E39G|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.E39G|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.E39G|CASP1_ENST00000527979.1_Missense_Mutation_p.E23G|CASP1_ENST00000528974.1_5'UTR|CASP1_ENST00000525825.1_Missense_Mutation_p.E39G	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	39	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	TTTCTCCATCTCTTCCTTGTT	0.428																																					NSCLC(41;1246 1743 4934)	dbGAP											0													349.0	323.0	332.0					11																	104905093		2202	4299	6501	-	-	-	SO:0001583	missense	0			U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"""Caspases"""	1499	protein-coding gene	gene with protein product	"""caspase-1"", ""interleukin 1, beta, convertase"""	147678	"""caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)"", ""caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"""	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.116A>G	11.37:g.104905093T>C	ENSP00000433138:p.Glu39Gly		B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.E39G	ENST00000533400.1	37	c.116	CCDS8330.1	11	.	.	.	.	.	.	.	.	.	.	.	15.19	2.761132	0.49468	.	.	ENSG00000137752	ENST00000527979;ENST00000533400;ENST00000436863;ENST00000393136;ENST00000525825	T;T;T;T;T	0.29142	1.58;1.75;1.75;1.75;1.75	4.83	4.83	0.62350	DEATH-like (2);Caspase Recruitment (3);	0.165528	0.52532	D	0.000079	T	0.61400	0.2344	M	0.89904	3.07	0.42524	D	0.99301	D;D;D;D	0.89917	1.0;0.998;0.999;0.999	D;D;D;D	0.85130	0.997;0.978;0.987;0.978	T	0.70139	-0.4954	10	0.66056	D	0.02	.	12.6423	0.56716	0.0:0.0:0.0:1.0	.	39;39;39;23	B4DKN4;P29466-2;P29466;G3V169	.;.;CASP1_HUMAN;.	G	23;39;39;39;39	ENSP00000432340:E23G;ENSP00000433138:E39G;ENSP00000410076:E39G;ENSP00000376844:E39G;ENSP00000434779:E39G	ENSP00000376844:E39G	E	-	2	0	CASP1	104410303	1.000000	0.71417	0.995000	0.50966	0.041000	0.13682	4.820000	0.62671	1.931000	0.55961	0.455000	0.32223	GAG	CASP1	-	pfam_CARD,superfamily_DEATH-like,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD	ENSG00000137752		0.428	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CASP1	HGNC	protein_coding	OTTHUMT00000388116.1	561	0.18	1	T	NM_033292		104905093	104905093	-1	no_errors	ENST00000436863	ensembl	human	known	69_37n	missense	213	33.44	107	SNP	1.000	C
CCDC108	255101	genome.wustl.edu	37	2	219894866	219894866	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr2:219894866C>A	ENST00000341552.5	-	10	1309	c.1226G>T	c.(1225-1227)tGc>tTc	p.C409F	CCDC108_ENST00000410037.1_Missense_Mutation_p.C344F|CCDC108_ENST00000453220.1_Missense_Mutation_p.C409F|CCDC108_ENST00000409865.3_Missense_Mutation_p.C398F|CCDC108_ENST00000441968.1_Missense_Mutation_p.C409F	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	409						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCGTGGGGCATGAGAAGGC	0.557											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													105.0	108.0	107.0					2																	219894866		2203	4300	6503	-	-	-	SO:0001583	missense	0			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.1226G>T	2.37:g.219894866C>A	ENSP00000340776:p.Cys409Phe	2262	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	superfamily_PapD-like,pfscan_Major_sperm	p.C409F	ENST00000341552.5	37	c.1226	CCDS2430.2	2	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065230	0.55432	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000409865;ENST00000410037;ENST00000441164	T;T;T;T;T	0.09445	3.25;3.25;3.25;2.98;2.98	4.94	4.02	0.46733	.	0.137530	0.34245	N	0.004138	T	0.28366	0.0701	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.00719	-1.1595	10	0.41790	T	0.15	-25.1009	15.4372	0.75155	0.0:0.8615:0.1385:0.0	.	398;409	E9PG25;Q6ZU64	.;CC108_HUMAN	F	409;409;409;398;344;343	ENSP00000340776:C409F;ENSP00000413377:C409F;ENSP00000409117:C409F;ENSP00000386945:C398F;ENSP00000386258:C344F	ENSP00000340776:C409F	C	-	2	0	CCDC108	219603110	0.978000	0.34361	0.971000	0.41717	0.796000	0.44982	3.377000	0.52425	2.573000	0.86826	0.655000	0.94253	TGC	CCDC108	-	NULL	ENSG00000181378		0.557	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	104	0.00	0	C	NM_194302		219894866	219894866	-1	no_errors	ENST00000341552	ensembl	human	known	69_37n	missense	149	22.80	44	SNP	0.860	A
CILP	8483	genome.wustl.edu	37	15	65490491	65490491	+	Missense_Mutation	SNP	T	T	A			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr15:65490491T>A	ENST00000261883.4	-	9	2299	c.2133A>T	c.(2131-2133)gaA>gaT	p.E711D		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	711					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TGAAATCACCTTCCTCCTCCC	0.493																																						dbGAP											0													90.0	93.0	92.0					15																	65490491		2202	4299	6501	-	-	-	SO:0001583	missense	0			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.2133A>T	15.37:g.65490491T>A	ENSP00000261883:p.Glu711Asp		B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.E711D	ENST00000261883.4	37	c.2133	CCDS10203.1	15	.	.	.	.	.	.	.	.	.	.	T	10.18	1.279409	0.23307	.	.	ENSG00000138615	ENST00000261883	T	0.50277	0.75	5.5	3.23	0.37069	.	0.000000	0.85682	D	0.000000	T	0.64068	0.2565	M	0.77820	2.39	0.44652	D	0.997639	D	0.89917	1.0	D	0.80764	0.994	T	0.64339	-0.6431	10	0.62326	D	0.03	-15.1009	7.2771	0.26290	0.0:0.2371:0.0:0.7629	.	711	O75339	CILP1_HUMAN	D	711	ENSP00000261883:E711D	ENSP00000261883:E711D	E	-	3	2	CILP	63277544	0.975000	0.34042	0.781000	0.31783	0.172000	0.22775	0.817000	0.27281	0.932000	0.37266	-0.371000	0.07208	GAA	CILP	-	NULL	ENSG00000138615		0.493	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CILP	HGNC	protein_coding	OTTHUMT00000256829.1	138	0.00	0	T	NM_003613		65490491	65490491	-1	no_errors	ENST00000261883	ensembl	human	known	69_37n	missense	20	85.19	115	SNP	0.942	A
CHD2	1106	genome.wustl.edu	37	15	93510696	93510696	+	Silent	SNP	A	A	G			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr15:93510696A>G	ENST00000394196.4	+	17	3210	c.2142A>G	c.(2140-2142)gaA>gaG	p.E714E	CHD2_ENST00000557381.1_Silent_p.E714E	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	714					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CTAAAGTGGAACAGATTCTCA	0.453																																						dbGAP											0													91.0	84.0	86.0					15																	93510696		2197	4298	6495	-	-	-	SO:0001819	synonymous_variant	0			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.2142A>G	15.37:g.93510696A>G			C6G482|Q96IP5	Silent	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E714	ENST00000394196.4	37	c.2142	CCDS10374.2	15																																																																																			CHD2	-	pfam_SNF2_N	ENSG00000173575		0.453	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	HGNC	protein_coding	OTTHUMT00000313528.3	113	0.00	0	A	NM_001271		93510696	93510696	+1	no_errors	ENST00000557381	ensembl	human	putative	69_37n	silent	11	69.23	27	SNP	0.954	G
CNOT1	23019	genome.wustl.edu	37	16	58564183	58564183	+	Silent	SNP	C	C	T			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr16:58564183C>T	ENST00000317147.5	-	43	6578	c.6246G>A	c.(6244-6246)gtG>gtA	p.V2082V	CNOT1_ENST00000569240.1_Silent_p.V2077V|CNOT1_ENST00000245138.4_Silent_p.V933V	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2082					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGGTGAGTTCCACATTTCTAA	0.318																																						dbGAP											0													66.0	67.0	67.0					16																	58564183		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6246G>A	16.37:g.58564183C>T			Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Silent	SNP	pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold	p.V2082	ENST00000317147.5	37	c.6246	CCDS10799.1	16																																																																																			CNOT1	-	pfam_CCR4-Not_Not1_C	ENSG00000125107		0.318	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3	76	0.00	0	C	NM_016284		58564183	58564183	-1	no_errors	ENST00000317147	ensembl	human	known	69_37n	silent	11	68.57	24	SNP	1.000	T
CPSF4	10898	genome.wustl.edu	37	7	99045885	99045885	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr7:99045885A>C	ENST00000292476.5	+	3	306	c.296A>C	c.(295-297)tAc>tCc	p.Y99S	CPSF4_ENST00000471455.1_3'UTR|CPSF4_ENST00000451876.1_Missense_Mutation_p.Y99S|PTCD1_ENST00000555673.1_Intron|ATP5J2-PTCD1_ENST00000437572.1_Intron|CPSF4_ENST00000441580.1_Missense_Mutation_p.Y46S|ATP5J2_ENST00000466753.1_5'Flank|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000436336.2_Missense_Mutation_p.Y99S			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	99					modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Y99C(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGCTACTTCTACTCCAAGTTC	0.582																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											116.0	89.0	98.0					7																	99045885		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"""cleavage and polyadenylation specific factor 4, 30kD subunit"""			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.296A>C	7.37:g.99045885A>C	ENSP00000292476:p.Tyr99Ser		D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Missense_Mutation	SNP	pfam_Znf_CCCH,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCCH,smart_Znf_CCHC,pfscan_Znf_CCHC	p.Y99S	ENST00000292476.5	37	c.296	CCDS5664.1	7	.	.	.	.	.	.	.	.	.	.	A	28.4	4.921201	0.92249	.	.	ENSG00000160917	ENST00000436336;ENST00000451876;ENST00000292476;ENST00000441580;ENST00000412686;ENST00000452047	T;T;T;T;T;T	0.56275	1.77;1.71;1.73;1.4;0.47;1.37	5.96	5.96	0.96718	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.78336	0.4267	M	0.89601	3.045	0.80722	D	1	D;D;D;D	0.89917	1.0;0.987;0.996;0.997	D;D;D;D	0.87578	0.998;0.936;0.944;0.972	T	0.83074	-0.0141	10	0.87932	D	0	-25.8988	16.4343	0.83869	1.0:0.0:0.0:0.0	.	46;99;99;99	B7Z7B0;O95639-3;O95639;O95639-2	.;.;CPSF4_HUMAN;.	S	99;99;99;46;46;66	ENSP00000395311:Y99S;ENSP00000396060:Y99S;ENSP00000292476:Y99S;ENSP00000402224:Y46S;ENSP00000401150:Y46S;ENSP00000392584:Y66S	ENSP00000292476:Y99S	Y	+	2	0	CPSF4	98883821	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.956000	0.93066	2.285000	0.76669	0.528000	0.53228	TAC	CPSF4	-	smart_Znf_CCCH	ENSG00000160917		0.582	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPSF4	HGNC	protein_coding	OTTHUMT00000336254.1	93	0.00	0	A			99045885	99045885	+1	no_errors	ENST00000292476	ensembl	human	known	69_37n	missense	151	21.76	42	SNP	1.000	C
TLN1	7094	genome.wustl.edu	37	9	35732815	35732815	+	5'Flank	SNP	C	C	A			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr9:35732815C>A	ENST00000314888.9	-	0	0				CREB3_ENST00000486056.1_3'UTR|TLN1_ENST00000540444.1_5'Flank|CREB3_ENST00000353704.2_Missense_Mutation_p.L16M	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCTGGCCTTCCTGCTAGAGGA	0.617																																						dbGAP											0													77.0	75.0	76.0					9																	35732815		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874		9.37:g.35732815C>A	Exception_encountered		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.L16M	ENST00000314888.9	37	c.46	CCDS35009.1	9	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070589	0.55539	.	.	ENSG00000107175	ENST00000353704	T	0.79352	-1.26	4.83	1.91	0.25777	.	0.257740	0.26769	N	0.022588	D	0.84946	0.5585	M	0.74258	2.255	0.38359	D	0.944546	D	0.89917	1.0	D	0.91635	0.999	D	0.85025	0.0914	10	0.66056	D	0.02	.	8.8979	0.35476	0.0:0.7462:0.0:0.2538	.	16	O43889-2	.	M	16	ENSP00000342136:L16M	ENSP00000342136:L16M	L	+	1	2	CREB3	35722815	0.977000	0.34250	0.993000	0.49108	0.347000	0.29111	1.326000	0.33735	0.555000	0.29079	0.585000	0.79938	CTG	CREB3	-	NULL	ENSG00000107175		0.617	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREB3	HGNC	protein_coding	OTTHUMT00000052353.2	136	0.00	0	C	NM_006289		35732815	35732815	+1	no_errors	ENST00000353704	ensembl	human	known	69_37n	missense	65	57.52	88	SNP	0.999	A
CXorf22	170063	genome.wustl.edu	37	X	35984770	35984770	+	Missense_Mutation	SNP	A	A	T			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chrX:35984770A>T	ENST00000297866.5	+	9	1565	c.1499A>T	c.(1498-1500)gAt>gTt	p.D500V		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	500										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GCAGAAGAAGATTTGCAATCT	0.348																																						dbGAP											0													134.0	122.0	126.0					X																	35984770		2202	4299	6501	-	-	-	SO:0001583	missense	0			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1499A>T	X.37:g.35984770A>T	ENSP00000297866:p.Asp500Val		Q5JRM8|Q8N6X8	Missense_Mutation	SNP	superfamily_PapD-like	p.D500V	ENST00000297866.5	37	c.1499	CCDS14237.2	X	.	.	.	.	.	.	.	.	.	.	A	11.24	1.581120	0.28180	.	.	ENSG00000165164	ENST00000297866	T	0.16073	2.37	5.7	1.83	0.25207	.	0.795058	0.11942	N	0.514591	T	0.17662	0.0424	L	0.43152	1.355	0.09310	N	1	P	0.42692	0.787	P	0.46585	0.521	T	0.16778	-1.0391	10	0.28530	T	0.3	-17.8799	6.2344	0.20754	0.615:0.3022:0.0829:0.0	.	500	Q6ZTR5	CX022_HUMAN	V	500	ENSP00000297866:D500V	ENSP00000297866:D500V	D	+	2	0	CXorf22	35894691	0.012000	0.17670	0.000000	0.03702	0.002000	0.02628	0.687000	0.25407	-0.020000	0.14032	0.481000	0.45027	GAT	CXorf22	-	NULL	ENSG00000165164		0.348	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf22	HGNC	protein_coding	OTTHUMT00000056216.2	217	0.00	0	A	NM_152632		35984770	35984770	+1	no_errors	ENST00000297866	ensembl	human	known	69_37n	missense	109	46.08	94	SNP	0.000	T
EHMT1	79813	genome.wustl.edu	37	9	140676797	140676797	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr9:140676797T>G	ENST00000460843.1	+	15	2357	c.2330T>G	c.(2329-2331)cTg>cGg	p.L777R	EHMT1_ENST00000462484.1_Missense_Mutation_p.L777R|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.L746R	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	777					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CGCTCTCCACTGCACGCCGCG	0.537																																						dbGAP											0													44.0	35.0	38.0					9																	140676797		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.2330T>G	9.37:g.140676797T>G	ENSP00000417980:p.Leu777Arg		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.L777R	ENST00000460843.1	37	c.2330	CCDS7050.2	9	.	.	.	.	.	.	.	.	.	.	T	17.31	3.357766	0.61403	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;D;D	0.91295	-1.26;-1.58;-2.82	4.89	4.89	0.63831	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.96907	0.8990	H	0.97131	3.945	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98254	1.0495	10	0.87932	D	0	.	14.7907	0.69841	0.0:0.0:0.0:1.0	.	777;746;777	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	R	746;746;777;777	ENSP00000334476:L746R;ENSP00000417328:L777R;ENSP00000417980:L777R	ENSP00000334476:L746R	L	+	2	0	EHMT1	139796618	1.000000	0.71417	0.450000	0.26969	0.155000	0.21991	7.884000	0.87274	1.949000	0.56562	0.397000	0.26171	CTG	EHMT1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000181090		0.537	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2	30	0.00	0	T	NM_024757		140676797	140676797	+1	no_errors	ENST00000460843	ensembl	human	known	69_37n	missense	16	44.83	13	SNP	0.969	G
ENSA	2029	genome.wustl.edu	37	1	150601942	150601942	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr1:150601942G>T	ENST00000369014.5	-	1	130	c.5C>A	c.(4-6)tCc>tAc	p.S2Y	ENSA_ENST00000271690.8_Missense_Mutation_p.S2Y|ENSA_ENST00000369016.4_Missense_Mutation_p.S2Y|ENSA_ENST00000513281.1_5'Flank|ENSA_ENST00000339643.5_Missense_Mutation_p.S2Y|ENSA_ENST00000361631.5_5'Flank|ENSA_ENST00000503241.1_Missense_Mutation_p.S2Y|ENSA_ENST00000354702.3_5'Flank|ENSA_ENST00000361532.5_5'Flank|ENSA_ENST00000362052.7_Missense_Mutation_p.S2Y|ENSA_ENST00000503345.1_Missense_Mutation_p.S2Y|ENSA_ENST00000369009.3_Missense_Mutation_p.S2Y|ENSA_ENST00000356527.5_Missense_Mutation_p.S2Y			O43768	ENSA_HUMAN	endosulfine alpha	2					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|regulation of catalytic activity (GO:0050790)|regulation of insulin secretion (GO:0050796)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|transport (GO:0006810)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ion channel inhibitor activity (GO:0008200)|phosphatase inhibitor activity (GO:0019212)|potassium channel inhibitor activity (GO:0019870)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)	4	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTGTTTCTGGGACATGGCGGG	0.657																																					Esophageal Squamous(188;763 2078 3002 3411 26027)	dbGAP											0													57.0	59.0	58.0					1																	150601942		2203	4300	6503	-	-	-	SO:0001583	missense	0			X99906	CCDS958.1, CCDS959.1, CCDS960.1, CCDS961.1, CCDS962.1, CCDS963.1, CCDS964.1, CCDS965.1	1q21.3	2010-03-11			ENSG00000143420	ENSG00000143420			3360	protein-coding gene	gene with protein product		603061				9653196	Standard	NM_004436		Approved	MGC4319, MGC8394, MGC78563, ARPP-19e	uc001eve.3	O43768	OTTHUMG00000035004	ENST00000369014.5:c.5C>A	1.37:g.150601942G>T	ENSP00000358010:p.Ser2Tyr		A8K1Z9|E9PB69|Q5T5H2|Q68D48|Q6FHW0|Q6IAM4|Q6NUL2|Q6VUC6|Q6VUC7|Q6VUC8|Q6VUC9|Q6VUD0|Q6VUD1|Q9NRZ0	Missense_Mutation	SNP	pfam_Endosulphine	p.S2Y	ENST00000369014.5	37	c.5	CCDS958.1	1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646974	0.87958	.	.	ENSG00000143420	ENST00000369016;ENST00000369014;ENST00000369009;ENST00000339643;ENST00000271690;ENST00000356527;ENST00000502246;ENST00000503345;ENST00000503241;ENST00000362052	T	0.52057	0.68	5.65	5.65	0.86999	.	0.144353	0.48286	D	0.000187	T	0.62417	0.2426	M	0.65975	2.015	0.80722	D	1	D;D;D;P;D	0.89917	0.998;1.0;0.99;0.94;0.994	D;D;D;P;D	0.87578	0.991;0.998;0.974;0.86;0.989	T	0.64175	-0.6469	10	0.66056	D	0.02	.	17.2683	0.87093	0.0:0.0:1.0:0.0	.	2;2;2;2;2	A6NMQ3;O43768-8;E9PB69;O43768;O43768-3	.;.;.;ENSA_HUMAN;.	Y	2	ENSP00000358012:S2Y	ENSP00000271690:S2Y	S	-	2	0	ENSA	148868566	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	2.060000	0.41394	2.680000	0.91292	0.306000	0.20318	TCC	ENSA	-	NULL	ENSG00000143420		0.657	ENSA-001	KNOWN	basic|CCDS	protein_coding	ENSA	HGNC	protein_coding	OTTHUMT00000084720.2	154	0.00	0	G	NM_207042		150601942	150601942	-1	no_errors	ENST00000369009	ensembl	human	known	69_37n	missense	251	16.33	49	SNP	1.000	T
FAN1	22909	genome.wustl.edu	37	15	31229401	31229401	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr15:31229401delC	ENST00000362065.4	+	14	3287	c.2996delC	c.(2995-2997)gctfs	p.A999fs		NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	999	VRR-NUC.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						AAGCTGGGGGCTGAAGTAGAA	0.433								Direct reversal of damage																														dbGAP											0													103.0	102.0	103.0					15																	31229401		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0				CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.2996delC	15.37:g.31229401delC	ENSP00000354497:p.Ala999fs		A8K4M2|Q86WU8	Frame_Shift_Del	DEL	pfam_VRR_NUC,smart_Znf_Rad18_put	p.A999fs	ENST00000362065.4	37	c.2996	CCDS32186.1	15																																																																																			FAN1	-	pfam_VRR_NUC	ENSG00000198690		0.433	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAN1	HGNC	protein_coding	OTTHUMT00000430740.1	118	0.00	0	C	NM_014967		31229401	31229401	+1	no_errors	ENST00000362065	ensembl	human	known	69_37n	frame_shift_del	17	61.02	36	DEL	1.000	-
FMN1	342184	genome.wustl.edu	37	15	33261324	33261324	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr15:33261324T>C	ENST00000559047.1	-	5	2577	c.2578A>G	c.(2578-2580)Atg>Gtg	p.M860V	FMN1_ENST00000561249.1_Missense_Mutation_p.M762V|FMN1_ENST00000334528.9_Missense_Mutation_p.M637V|SNORD77_ENST00000391113.1_RNA			Q68DA7	FMN1_HUMAN	formin 1	860					actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TTTGATGCCATGCCCTCCATT	0.552																																						dbGAP											0													100.0	98.0	99.0					15																	33261324		2033	4178	6211	-	-	-	SO:0001583	missense	0			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2578A>G	15.37:g.33261324T>C	ENSP00000454047:p.Met860Val		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,prints_Formin	p.M637V	ENST00000559047.1	37	c.1909		15	.	.	.	.	.	.	.	.	.	.	T	0.262	-0.998968	0.02128	.	.	ENSG00000248905	ENST00000334528	T	0.35236	1.32	4.17	-1.49	0.08718	.	1.385440	0.04543	N	0.388522	T	0.20007	0.0481	N	0.22421	0.69	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.13098	-1.0522	9	0.15066	T	0.55	.	2.5923	0.04846	0.1582:0.4422:0.1443:0.2554	.	637	Q68DA7-5	.	V	637	ENSP00000333950:M637V	ENSP00000333950:M637V	M	-	1	0	FMN1	31048616	0.000000	0.05858	0.012000	0.15200	0.011000	0.07611	-0.397000	0.07269	-0.084000	0.12595	-1.404000	0.01136	ATG	FMN1	-	NULL	ENSG00000248905		0.552	FMN1-005	NOVEL	basic|exp_conf	protein_coding	FMN1	HGNC	protein_coding	OTTHUMT00000417414.1	255	0.00	0	T	NM_001103184		33261324	33261324	-1	no_errors	ENST00000334528	ensembl	human	known	69_37n	missense	47	66.43	93	SNP	0.001	C
FNBP4	23360	genome.wustl.edu	37	11	47753019	47753019	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr11:47753019G>C	ENST00000263773.5	-	12	1927	c.1915C>G	c.(1915-1917)Caa>Gaa	p.Q639E	FNBP4_ENST00000534003.1_5'Flank	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	639						nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CTATTTTCTTGTGCTTGGCTT	0.428																																						dbGAP											0													180.0	173.0	175.0					11																	47753019		1873	4115	5988	-	-	-	SO:0001583	missense	0			BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.1915C>G	11.37:g.47753019G>C	ENSP00000263773:p.Gln639Glu		Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.Q639E	ENST00000263773.5	37	c.1915	CCDS41644.1	11	.	.	.	.	.	.	.	.	.	.	G	5.621	0.299353	0.10622	.	.	ENSG00000109920	ENST00000263773	T	0.10860	2.83	6.03	3.12	0.35913	.	0.721600	0.14225	N	0.333130	T	0.07234	0.0183	L	0.44542	1.39	0.18873	N	0.999985	B	0.17038	0.02	B	0.16722	0.016	T	0.45190	-0.9278	10	0.02654	T	1	-4.7748	4.4322	0.11533	0.1282:0.1278:0.6115:0.1326	.	639	Q8N3X1	FNBP4_HUMAN	E	639	ENSP00000263773:Q639E	ENSP00000263773:Q639E	Q	-	1	0	FNBP4	47709595	0.000000	0.05858	0.993000	0.49108	0.853000	0.48598	0.056000	0.14256	0.854000	0.35336	0.655000	0.94253	CAA	FNBP4	-	NULL	ENSG00000109920		0.428	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNBP4	HGNC	protein_coding	OTTHUMT00000390237.3	261	0.00	0	G			47753019	47753019	-1	no_errors	ENST00000263773	ensembl	human	known	69_37n	missense	366	19.91	91	SNP	0.586	C
FRMPD1	22844	genome.wustl.edu	37	9	37708487	37708487	+	Silent	SNP	C	C	T			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr9:37708487C>T	ENST00000539465.1	+	4	944	c.351C>T	c.(349-351)gtC>gtT	p.V117V	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.V117V			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	117	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AACGAGCAGTCGATATTCTCA	0.468																																						dbGAP											0													102.0	93.0	96.0					9																	37708487		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.351C>T	9.37:g.37708487C>T			B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP	pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.V117	ENST00000539465.1	37	c.351	CCDS6612.1	9																																																																																			FRMPD1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000070601		0.468	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FRMPD1	HGNC	protein_coding	OTTHUMT00000402969.1	76	0.00	0	C	NM_014907		37708487	37708487	+1	no_errors	ENST00000377765	ensembl	human	known	69_37n	silent	72	31.43	33	SNP	0.000	T
FZD1	8321	genome.wustl.edu	37	7	90895264	90895264	+	Missense_Mutation	SNP	T	T	A			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr7:90895264T>A	ENST00000287934.2	+	1	1482	c.1069T>A	c.(1069-1071)Ttc>Atc	p.F357I		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	357					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GCCCATCATCTTCTTGTCCGG	0.622																																						dbGAP											0													75.0	76.0	76.0					7																	90895264		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1069T>A	7.37:g.90895264T>A	ENSP00000287934:p.Phe357Ile		A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.F357I	ENST00000287934.2	37	c.1069	CCDS5620.1	7	.	.	.	.	.	.	.	.	.	.	T	23.2	4.385480	0.82792	.	.	ENSG00000157240	ENST00000287934	D	0.86497	-2.13	4.5	4.5	0.54988	GPCR, family 2-like (1);	0.000000	0.56097	D	0.000032	D	0.94245	0.8152	M	0.91038	3.17	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.95412	0.8499	10	0.87932	D	0	.	13.9548	0.64140	0.0:0.0:0.0:1.0	.	357	Q9UP38	FZD1_HUMAN	I	357	ENSP00000287934:F357I	ENSP00000287934:F357I	F	+	1	0	FZD1	90733200	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.806000	0.86020	1.885000	0.54596	0.334000	0.21626	TTC	FZD1	-	pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled	ENSG00000157240		0.622	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD1	HGNC	protein_coding	OTTHUMT00000059367.2	71	0.00	0	T	NM_003505		90895264	90895264	+1	no_errors	ENST00000287934	ensembl	human	known	69_37n	missense	277	12.06	38	SNP	1.000	A
GAR1	54433	genome.wustl.edu	37	4	110737351	110737351	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr4:110737351T>G	ENST00000226796.6	+	2	295	c.31T>G	c.(31-33)Ttt>Gtt	p.F11V	GAR1_ENST00000394631.3_Missense_Mutation_p.F11V|RP11-602N24.3_ENST00000609440.1_lincRNA	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	11	RGG-box 1.				cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|pseudouridine synthesis (GO:0001522)|rRNA processing (GO:0006364)	box H/ACA snoRNP complex (GO:0031429)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cation channel activity (GO:0005261)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						TCGTGGAGGCTTTAATCGAgg	0.562																																						dbGAP											0													66.0	73.0	70.0					4																	110737351		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ276003	CCDS34050.1	4q	2013-07-31	2013-07-31	2008-10-13	ENSG00000109534	ENSG00000109534			14264	protein-coding gene	gene with protein product		606468	"""nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs)"", ""GAR1 ribonucleoprotein homolog (yeast)"""	NOLA1		10757788	Standard	XM_005263069		Approved		uc003hzu.3	Q9NY12	OTTHUMG00000161108	ENST00000226796.6:c.31T>G	4.37:g.110737351T>G	ENSP00000226796:p.Phe11Val		Q5MJQ2	Missense_Mutation	SNP	pfam_H/ACA_rnp_Gar1/Naf1,superfamily_Transl_elong_init/rib_B-barrel	p.F11V	ENST00000226796.6	37	c.31	CCDS34050.1	4	.	.	.	.	.	.	.	.	.	.	T	13.00	2.105673	0.37145	.	.	ENSG00000109534	ENST00000394631;ENST00000226796	.	.	.	4.32	3.16	0.36331	.	0.183316	0.46145	D	0.000314	T	0.22975	0.0555	N	0.08118	0	0.36926	D	0.891663	B;B	0.30281	0.275;0.18	B;B	0.26517	0.07;0.032	T	0.16778	-1.0391	9	0.33141	T	0.24	.	7.7759	0.29037	0.0:0.103:0.0:0.897	.	11;11	Q9NY12-2;Q9NY12	.;GAR1_HUMAN	V	11	.	ENSP00000226796:F11V	F	+	1	0	GAR1	110956800	0.419000	0.25449	1.000000	0.80357	0.952000	0.60782	1.446000	0.35090	1.931000	0.55961	0.533000	0.62120	TTT	GAR1	-	NULL	ENSG00000109534		0.562	GAR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GAR1	HGNC	protein_coding	OTTHUMT00000363810.2	202	0.00	0	T			110737351	110737351	+1	no_errors	ENST00000226796	ensembl	human	known	69_37n	missense	448	15.47	82	SNP	0.977	G
GNPAT	8443	genome.wustl.edu	37	1	231406515	231406515	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr1:231406515G>A	ENST00000366647.4	+	10	1460	c.1291G>A	c.(1291-1293)Gct>Act	p.A431T	GNPAT_ENST00000366646.3_Missense_Mutation_p.A370T	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	431					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TAATAAACCTGCTGAAGAAGT	0.458																																						dbGAP											0													133.0	131.0	132.0					1																	231406515		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.1291G>A	1.37:g.231406515G>A	ENSP00000355607:p.Ala431Thr		B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	pfam_Acyltransferase,smart_Acyltransferase	p.A431T	ENST00000366647.4	37	c.1291	CCDS1592.1	1	.	.	.	.	.	.	.	.	.	.	G	5.241	0.230014	0.09969	.	.	ENSG00000116906	ENST00000366647;ENST00000366646;ENST00000416000	T;T;T	0.63744	-0.04;-0.04;-0.06	4.81	2.78	0.32641	.	0.309944	0.35179	N	0.003400	T	0.50497	0.1619	L	0.33485	1.01	0.35345	D	0.786795	P;B	0.37914	0.611;0.027	B;B	0.38106	0.265;0.011	T	0.59343	-0.7472	10	0.25106	T	0.35	.	14.6568	0.68838	0.0:0.2852:0.7148:0.0	.	370;431	B4DNM9;O15228	.;GNPAT_HUMAN	T	431;370;421	ENSP00000355607:A431T;ENSP00000355606:A370T;ENSP00000411640:A421T	ENSP00000355606:A370T	A	+	1	0	GNPAT	229473138	0.968000	0.33430	0.755000	0.31263	0.162000	0.22319	0.879000	0.28146	1.205000	0.43262	0.467000	0.42956	GCT	GNPAT	-	NULL	ENSG00000116906		0.458	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GNPAT	HGNC	protein_coding	OTTHUMT00000092871.1	140	0.00	0	G			231406515	231406515	+1	no_errors	ENST00000366647	ensembl	human	known	69_37n	missense	168	21.50	46	SNP	0.909	A
GPR174	84636	genome.wustl.edu	37	X	78426996	78426996	+	Missense_Mutation	SNP	T	T	A			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chrX:78426996T>A	ENST00000276077.1	+	1	528	c.492T>A	c.(490-492)aaT>aaA	p.N164K		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CCTCTGGCAATAGGACCAAAT	0.483										HNSCC(63;0.18)																												dbGAP											0													143.0	119.0	127.0					X																	78426996		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.492T>A	X.37:g.78426996T>A	ENSP00000276077:p.Asn164Lys		Q2M3F7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	p.N164K	ENST00000276077.1	37	c.492	CCDS14443.1	X	.	.	.	.	.	.	.	.	.	.	t	7.381	0.628747	0.14257	.	.	ENSG00000147138	ENST00000276077	T	0.40476	1.03	4.9	1.81	0.25067	GPCR, rhodopsin-like superfamily (1);	0.558918	0.17787	N	0.162002	T	0.33731	0.0873	L	0.42487	1.325	0.09310	N	1	B	0.22909	0.077	B	0.28553	0.091	T	0.26916	-1.0089	10	0.49607	T	0.09	.	7.733	0.28797	0.0:0.4819:0.0:0.5181	.	164	Q9BXC1	GP174_HUMAN	K	164	ENSP00000276077:N164K	ENSP00000276077:N164K	N	+	3	2	GPR174	78313652	.	.	0.932000	0.37286	0.567000	0.35839	.	.	-0.050000	0.13356	-0.477000	0.04895	AAT	GPR174	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000147138		0.483	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR174	HGNC	protein_coding	OTTHUMT00000057327.1	177	0.00	0	T	NM_032553		78426996	78426996	+1	no_errors	ENST00000276077	ensembl	human	known	69_37n	missense	105	42.93	79	SNP	0.004	A
HNRNPU	3192	genome.wustl.edu	37	1	245025803	245025803	+	Missense_Mutation	SNP	T	T	A	rs538951206		TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr1:245025803T>A	ENST00000283179.9	-	3	1000	c.837A>T	c.(835-837)gaA>gaT	p.E279D	HNRNPU_ENST00000444376.2_Missense_Mutation_p.E260D|RP11-11N7.4_ENST00000610145.1_lincRNA			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	279	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			AGTGTTCATCTTCTTCTTCAA	0.398													T|||	1	0.000199681	0.0008	0.0	5008	,	,		20265	0.0		0.0	False		,,,				2504	0.0				NSCLC(33;911 1010 3329 23631 49995)	dbGAP											0													142.0	133.0	136.0					1																	245025803		2203	4300	6503	-	-	-	SO:0001583	missense	0			X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.837A>T	1.37:g.245025803T>A	ENSP00000283179:p.Glu279Asp		O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SAP_DNA-bd,pfam_Zeta_toxin_domain,superfamily_ConA-like_lec_gl,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd	p.E279D	ENST00000283179.9	37	c.837	CCDS41479.1	1	.	.	.	.	.	.	.	.	.	.	T	12.96	2.093769	0.36952	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948;ENST00000440865	T;T	0.51071	0.8;0.72	5.42	4.3	0.51218	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.044361	0.85682	D	0.000000	T	0.24470	0.0593	N	0.11651	0.15	0.54753	D	0.999983	B;B	0.26195	0.144;0.017	B;B	0.28553	0.091;0.019	T	0.08659	-1.0711	10	0.08837	T	0.75	-17.9689	8.8839	0.35392	0.0:0.1433:0.0:0.8567	.	260;279	Q00839-2;Q00839	.;HNRPU_HUMAN	D	260;279;204;56	ENSP00000393151:E260D;ENSP00000283179:E279D	ENSP00000283179:E279D	E	-	3	2	HNRNPU	243092426	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.023000	0.30065	2.057000	0.61298	0.528000	0.53228	GAA	HNRNPU	-	superfamily_ConA-like_lec_gl,pfscan_B30.2/SPRY	ENSG00000153187		0.398	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPU	HGNC	protein_coding	OTTHUMT00000097163.3	239	0.00	0	T	NM_031844		245025803	245025803	-1	no_errors	ENST00000283179	ensembl	human	known	69_37n	missense	309	19.32	74	SNP	1.000	A
HS6ST1	9394	genome.wustl.edu	37	2	129075877	129075877	+	Missense_Mutation	SNP	G	G	T	rs200979099		TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr2:129075877G>T	ENST00000259241.6	-	1	274	c.261C>A	c.(259-261)gaC>gaA	p.D87E	HS6ST1_ENST00000494089.1_5'UTR	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	87					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		AGACGATCACGTCGTCGCCCT	0.657																																						dbGAP											0													10.0	16.0	14.0					2																	129075877		1658	4004	5662	-	-	-	SO:0001583	missense	0			AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.261C>A	2.37:g.129075877G>T	ENSP00000259241:p.Asp87Glu		B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	pfam_Sulfotransferase	p.D87E	ENST00000259241.6	37	c.261	CCDS42748.1	2	.	.	.	.	.	.	.	.	.	.	g	21.7	4.181914	0.78677	.	.	ENSG00000136720	ENST00000259241	T	0.74947	-0.89	3.69	2.78	0.32641	.	0.000000	0.85682	U	0.000000	D	0.84924	0.5580	M	0.88031	2.925	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	D	0.84908	0.0846	9	.	.	.	.	6.5213	0.22277	0.2434:0.0:0.7566:0.0	.	87	O60243	H6ST1_HUMAN	E	87	ENSP00000259241:D87E	.	D	-	3	2	HS6ST1	128792347	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.938000	0.40203	1.600000	0.50102	0.313000	0.20887	GAC	HS6ST1	-	pfam_Sulfotransferase	ENSG00000136720		0.657	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS6ST1	HGNC	protein_coding	OTTHUMT00000331572.1	9	0.00	0	G	NM_004807		129075877	129075877	-1	no_errors	ENST00000259241	ensembl	human	known	69_37n	missense	10	58.33	14	SNP	1.000	T
KIF21B	23046	genome.wustl.edu	37	1	200967640	200967640	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr1:200967640A>C	ENST00000422435.2	-	14	2265	c.1949T>G	c.(1948-1950)aTc>aGc	p.I650S	KIF21B_ENST00000332129.2_Missense_Mutation_p.I650S|KIF21B_ENST00000360529.5_Missense_Mutation_p.I650S|KIF21B_ENST00000461742.2_Missense_Mutation_p.I650S	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	650					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CAGCTCGTCGATCAGCTTCTG	0.562																																						dbGAP											0													100.0	93.0	95.0					1																	200967640		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1949T>G	1.37:g.200967640A>C	ENSP00000411831:p.Ile650Ser		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.I650S	ENST00000422435.2	37	c.1949	CCDS58056.1	1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.037998	0.75617	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	5.31	5.31	0.75309	.	0.169751	0.49305	D	0.000142	T	0.64472	0.2601	M	0.86028	2.79	0.80722	D	1	P;P;D;P	0.71674	0.89;0.89;0.998;0.933	B;B;D;P	0.75484	0.343;0.343;0.986;0.544	T	0.71484	-0.4579	10	0.87932	D	0	.	15.2977	0.73922	1.0:0.0:0.0:0.0	.	650;650;650;650	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	S	650	ENSP00000328494:I650S;ENSP00000353724:I650S;ENSP00000433808:I650S;ENSP00000411831:I650S	ENSP00000328494:I650S	I	-	2	0	KIF21B	199234263	1.000000	0.71417	0.907000	0.35723	0.949000	0.60115	7.079000	0.76829	2.005000	0.58758	0.529000	0.55759	ATC	KIF21B	-	NULL	ENSG00000116852		0.562	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	HGNC	protein_coding	OTTHUMT00000382635.1	83	0.00	0	A	XM_371332		200967640	200967640	-1	no_errors	ENST00000422435	ensembl	human	known	69_37n	missense	107	24.65	35	SNP	0.999	C
LAMA3	3909	genome.wustl.edu	37	18	21530014	21530014	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr18:21530014C>T	ENST00000313654.9	+	72	9774	c.9533C>T	c.(9532-9534)cCa>cTa	p.P3178L	LAMA3_ENST00000587184.1_Missense_Mutation_p.P1513L|LAMA3_ENST00000399516.3_Missense_Mutation_p.P3122L|LAMA3_ENST00000269217.6_Missense_Mutation_p.P1569L|LAMA3_ENST00000588770.1_3'UTR	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3178	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TTGTTGGGGCCAGAATTTAAG	0.423																																						dbGAP											0													145.0	140.0	142.0					18																	21530014		2203	4300	6503	-	-	-	SO:0001583	missense	0			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.9533C>T	18.37:g.21530014C>T	ENSP00000324532:p.Pro3178Leu		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Growth_fac_rcpt,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.P3178L	ENST00000313654.9	37	c.9533	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	C	12.86	2.063901	0.36373	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.78364	-1.17;-1.17;-1.17	5.7	4.75	0.60458	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	.	.	.	.	T	0.71634	0.3363	L	0.33753	1.03	0.20307	N	0.999914	D;D;B;B	0.61080	0.961;0.989;0.003;0.003	P;P;B;B	0.55749	0.617;0.783;0.002;0.003	T	0.61530	-0.7044	9	0.13853	T	0.58	.	3.3403	0.07116	0.3109:0.4897:0.0:0.1994	.	1513;1569;3122;3178	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	L	3178;3122;1569	ENSP00000324532:P3178L;ENSP00000382432:P3122L;ENSP00000269217:P1569L	ENSP00000269217:P1569L	P	+	2	0	LAMA3	19784012	0.054000	0.20591	0.989000	0.46669	0.997000	0.91878	1.201000	0.32259	2.687000	0.91594	0.655000	0.94253	CCA	LAMA3	-	superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000053747		0.423	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	HGNC	protein_coding	OTTHUMT00000254824.3	327	0.00	0	C	NM_000227, NM_198129		21530014	21530014	+1	no_errors	ENST00000313654	ensembl	human	known	69_37n	missense	773	16.52	153	SNP	0.125	T
LMX1B	4010	genome.wustl.edu	37	9	129458599	129458599	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr9:129458599G>A	ENST00000373474.4	+	8	1085	c.1078G>A	c.(1078-1080)Gac>Aac	p.D360N	LMX1B_ENST00000355497.5_Missense_Mutation_p.D364N|LMX1B_ENST00000561065.1_Missense_Mutation_p.D341N|LMX1B_ENST00000425646.2_Missense_Mutation_p.D330N|LMX1B_ENST00000526117.1_Missense_Mutation_p.D353N			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	360					cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CCATGACATCGACAGCGATAC	0.657									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	dbGAP											0													115.0	111.0	112.0					9																	129458599		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"""Homeoboxes / LIM class"""	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.1078G>A	9.37:g.129458599G>A	ENSP00000362573:p.Asp360Asn		F8W7W6|O75463|Q5JU95|Q6ISC9	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.D364N	ENST00000373474.4	37	c.1090	CCDS55342.1	9	.	.	.	.	.	.	.	.	.	.	G	32	5.191968	0.94923	.	.	ENSG00000136944	ENST00000526117;ENST00000373474;ENST00000355497;ENST00000425646	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.19	5.19	0.71726	.	0.097898	0.64402	D	0.000002	T	0.77471	0.4135	M	0.62723	1.935	0.80722	D	1	P;P;D	0.54047	0.893;0.782;0.964	B;B;B	0.43123	0.353;0.232;0.409	T	0.79577	-0.1746	10	0.44086	T	0.13	.	17.6964	0.88282	0.0:0.0:1.0:0.0	.	341;337;353	B7ZLH2;O60663;F8VYP0	.;LMX1B_HUMAN;.	N	353;360;364;330	ENSP00000436930:D353N;ENSP00000362573:D360N;ENSP00000347684:D364N;ENSP00000390923:D330N	ENSP00000347684:D364N	D	+	1	0	LMX1B	128498420	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.452000	0.97615	2.420000	0.82092	0.561000	0.74099	GAC	LMX1B	-	NULL	ENSG00000136944		0.657	LMX1B-002	KNOWN	basic|CCDS	protein_coding	LMX1B	HGNC	protein_coding	OTTHUMT00000054123.2	62	0.00	0	G			129458599	129458599	+1	no_errors	ENST00000355497	ensembl	human	known	69_37n	missense	59	22.37	17	SNP	1.000	A
MAGEB6	158809	genome.wustl.edu	37	X	26213143	26213143	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chrX:26213143G>C	ENST00000379034.1	+	2	1329	c.1180G>C	c.(1180-1182)Gct>Cct	p.A394P		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	394	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GTATGAAGACGCTTTGATAGA	0.507																																						dbGAP											0													121.0	111.0	115.0					X																	26213143		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.1180G>C	X.37:g.26213143G>C	ENSP00000368320:p.Ala394Pro		Q6GS19|Q9H219	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.A394P	ENST00000379034.1	37	c.1180	CCDS14217.1	X	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238673	0.39598	.	.	ENSG00000176746	ENST00000379034	T	0.08807	3.05	3.29	1.37	0.22104	.	0.066193	0.64402	U	0.000016	T	0.36331	0.0963	H	0.97852	4.09	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.27191	-1.0081	10	0.87932	D	0	.	4.2109	0.10510	0.1407:0.2327:0.6266:0.0	.	394	Q8N7X4	MAGB6_HUMAN	P	394	ENSP00000368320:A394P	ENSP00000368320:A394P	A	+	1	0	MAGEB6	26123064	0.034000	0.19679	0.010000	0.14722	0.004000	0.04260	0.486000	0.22340	0.226000	0.20979	0.594000	0.82650	GCT	MAGEB6	-	pfscan_MAGE	ENSG00000176746		0.507	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB6	HGNC	protein_coding	OTTHUMT00000056123.1	106	0.00	0	G	NM_173523		26213143	26213143	+1	no_errors	ENST00000379034	ensembl	human	known	69_37n	missense	63	39.05	41	SNP	0.008	C
MOGAT3	346606	genome.wustl.edu	37	7	100841573	100841573	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr7:100841573G>C	ENST00000223114.4	-	5	733	c.567C>G	c.(565-567)atC>atG	p.I189M	MOGAT3_ENST00000440203.2_Missense_Mutation_p.I189M|MOGAT3_ENST00000379423.3_Missense_Mutation_p.I189M	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	189					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					CCCCCACCATGATGACCACGG	0.662																																						dbGAP											0													47.0	50.0	49.0					7																	100841573		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.567C>G	7.37:g.100841573G>C	ENSP00000223114:p.Ile189Met		Q496A6|Q496A7|Q496A8|Q9UDW7	Missense_Mutation	SNP	pfam_DAGAT	p.I189M	ENST00000223114.4	37	c.567	CCDS5714.1	7	.	.	.	.	.	.	.	.	.	.	.	14.81	2.646473	0.47258	.	.	ENSG00000106384	ENST00000223114;ENST00000440203;ENST00000379423	T;T;T	0.18016	2.24;2.24;2.24	5.03	-0.164	0.13359	.	0.000000	0.85682	D	0.000000	T	0.41305	0.1153	M	0.93375	3.41	0.33415	D	0.579178	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.46978	-0.9152	10	0.87932	D	0	-31.6596	1.4479	0.02368	0.326:0.1338:0.4032:0.137	.	189;189	Q86VF5-2;Q86VF5	.;MOGT3_HUMAN	M	189	ENSP00000223114:I189M;ENSP00000403756:I189M;ENSP00000368734:I189M	ENSP00000223114:I189M	I	-	3	3	MOGAT3	100628293	0.003000	0.15002	0.005000	0.12908	0.066000	0.16364	-0.006000	0.12833	-0.359000	0.08150	-0.379000	0.06801	ATC	MOGAT3	-	pfam_DAGAT	ENSG00000106384		0.662	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOGAT3	HGNC	protein_coding	OTTHUMT00000059649.3	29	0.00	0	G	NM_178176		100841573	100841573	-1	no_errors	ENST00000440203	ensembl	human	known	69_37n	missense	50	25.37	17	SNP	0.063	C
MTOR	2475	genome.wustl.edu	37	1	11217313	11217313	+	Silent	SNP	C	C	T			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr1:11217313C>T	ENST00000361445.4	-	30	4441	c.4365G>A	c.(4363-4365)gaG>gaA	p.E1455E		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1455	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CATCCTCCCACTCGTGCAGTT	0.532																																						dbGAP											0													145.0	117.0	127.0					1																	11217313		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4365G>A	1.37:g.11217313C>T			Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_FKBP_rapamycin-assoc_FKBP12-bd,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_FKBP_rapamycin-assoc_FKBP12-bd,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E1455	ENST00000361445.4	37	c.4365	CCDS127.1	1																																																																																			MTOR	-	superfamily_ARM-type_fold,pfscan_PIK_FAT	ENSG00000198793		0.532	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	120	0.00	0	C	NM_004958		11217313	11217313	-1	no_errors	ENST00000361445	ensembl	human	known	69_37n	silent	111	31.06	50	SNP	1.000	T
MUC4	4585	genome.wustl.edu	37	3	195513060	195513060	+	Silent	SNP	G	G	A			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr3:195513060G>A	ENST00000463781.3	-	2	5850	c.5391C>T	c.(5389-5391)gaC>gaT	p.D1797D	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.D1797D	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCGAGGAAACGTCGGTGACAG	0.592																																						dbGAP											0													74.0	75.0	74.0					3																	195513060		689	1591	2280	-	-	-	SO:0001819	synonymous_variant	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.5391C>T	3.37:g.195513060G>A			O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.D1797	ENST00000463781.3	37	c.5391	CCDS54700.1	3																																																																																			MUC4	-	NULL	ENSG00000145113		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	689	0.00	0	G	NM_018406		195513060	195513060	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	silent	515	18.90	120	SNP	0.000	A
MXRA5	25878	genome.wustl.edu	37	X	3261749	3261749	+	Silent	SNP	C	C	T			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chrX:3261749C>T	ENST00000217939.6	-	2	280	c.126G>A	c.(124-126)acG>acA	p.T42T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	42	LRRNT.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGGATCGGAACGTGCAGTGGA	0.602																																						dbGAP											0													62.0	41.0	48.0					X																	3261749		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.126G>A	X.37:g.3261749C>T			Q6P1M7|Q9Y3Y8	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T42	ENST00000217939.6	37	c.126	CCDS14124.1	X																																																																																			MXRA5	-	smart_LRR-contain_N	ENSG00000101825		0.602	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	54	0.00	0	C	NM_015419		3261749	3261749	-1	no_errors	ENST00000217939	ensembl	human	known	69_37n	silent	129	14.00	21	SNP	0.311	T
MYO15A	51168	genome.wustl.edu	37	17	18022644	18022644	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr17:18022644G>A	ENST00000205890.5	+	2	868	c.530G>A	c.(529-531)gGt>gAt	p.G177D		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	177					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TTCCCGTCGGGTGCCGAGATC	0.711																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.530G>A	17.37:g.18022644G>A	ENSP00000205890:p.Gly177Asp		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.G177D	ENST00000205890.5	37	c.530	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250426	0.59212	.	.	ENSG00000091536	ENST00000205890	D	0.88741	-2.42	5.48	5.48	0.80851	.	.	.	.	.	D	0.87904	0.6295	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	P	0.59643	0.861	D	0.85247	0.1042	9	0.28530	T	0.3	.	9.9983	0.41913	0.1523:0.0:0.8477:0.0	.	177	Q9UKN7	MYO15_HUMAN	D	177	ENSP00000205890:G177D	ENSP00000205890:G177D	G	+	2	0	MYO15A	17963369	0.915000	0.31059	0.982000	0.44146	0.643000	0.38383	2.333000	0.43912	2.562000	0.86427	0.555000	0.69702	GGT	MYO15A	-	NULL	ENSG00000091536		0.711	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	9	0.00	0	G	NM_016239		18022644	18022644	+1	no_errors	ENST00000205890	ensembl	human	known	69_37n	missense	1	80.00	4	SNP	0.824	A
NBAS	51594	genome.wustl.edu	37	2	15372613	15372613	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr2:15372613C>A	ENST00000281513.5	-	47	6194	c.6169G>T	c.(6169-6171)Ggg>Tgg	p.G2057W	NBAS_ENST00000441750.1_Missense_Mutation_p.G1937W	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2057					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TCCCTTGGCCCACCAAGGTCA	0.463																																						dbGAP											0													86.0	68.0	74.0					2																	15372613		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6169G>T	2.37:g.15372613C>A	ENSP00000281513:p.Gly2057Trp		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.G2057W	ENST00000281513.5	37	c.6169	CCDS1685.1	2	.	.	.	.	.	.	.	.	.	.	C	13.05	2.121511	0.37436	.	.	ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000417461	T;T;T	0.44482	2.88;3.06;0.92	5.67	3.87	0.44632	.	0.844227	0.11265	N	0.582119	T	0.50922	0.1644	L	0.51422	1.61	0.09310	N	1	D;D	0.76494	0.999;0.991	D;P	0.63793	0.918;0.598	T	0.41875	-0.9484	10	0.87932	D	0	.	3.4603	0.07531	0.3068:0.4627:0.0:0.2306	.	1937;2057	A2RRP1-2;A2RRP1	.;NBAS_HUMAN	W	1937;2057;149	ENSP00000413201:G1937W;ENSP00000281513:G2057W;ENSP00000392421:G149W	ENSP00000281513:G2057W	G	-	1	0	NBAS	15290064	0.000000	0.05858	0.100000	0.21137	0.009000	0.06853	0.037000	0.13840	1.398000	0.46701	0.655000	0.94253	GGG	NBAS	-	NULL	ENSG00000151779		0.463	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1	65	0.00	0	C	NM_015909		15372613	15372613	-1	no_errors	ENST00000281513	ensembl	human	known	69_37n	missense	84	22.94	25	SNP	0.000	A
NUP35	129401	genome.wustl.edu	37	2	184022174	184022174	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr2:184022174T>G	ENST00000295119.4	+	6	645	c.542T>G	c.(541-543)tTt>tGt	p.F181C	NUP35_ENST00000409798.1_Missense_Mutation_p.F164C|NUP35_ENST00000541912.1_Missense_Mutation_p.F46C	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	181	RRM Nup35-type. {ECO:0000255|PROSITE- ProRule:PRU00804}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						TTTTTCAGGTTTCCTCAAGCA	0.343																																						dbGAP											0													140.0	137.0	138.0					2																	184022174		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF514993	CCDS2290.1, CCDS74614.1	2q32	2008-02-05			ENSG00000163002	ENSG00000163002			29797	protein-coding gene	gene with protein product		608140					Standard	XM_005246284		Approved	MP44	uc002upf.3	Q8NFH5	OTTHUMG00000132621	ENST00000295119.4:c.542T>G	2.37:g.184022174T>G	ENSP00000295119:p.Phe181Cys		B4DP57|B4DYB4|Q4ZFZ9|Q53S95|Q8TDJ1	Missense_Mutation	SNP	pfam_RRM_NUP35_dom,pirsf_Nucleoporin_NUP53	p.F181C	ENST00000295119.4	37	c.542	CCDS2290.1	2	.	.	.	.	.	.	.	.	.	.	T	21.0	4.077207	0.76415	.	.	ENSG00000163002	ENST00000409798;ENST00000295119;ENST00000541912	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.85124	0.5625	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88614	0.3158	9	0.87932	D	0	.	13.335	0.60512	0.0:0.0:0.0:1.0	.	181	Q8NFH5	NUP53_HUMAN	C	164;181;46	.	ENSP00000295119:F181C	F	+	2	0	NUP35	183730419	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.138000	0.77305	2.093000	0.63338	0.460000	0.39030	TTT	NUP35	-	pfam_RRM_NUP35_dom,pirsf_Nucleoporin_NUP53	ENSG00000163002		0.343	NUP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP35	HGNC	protein_coding	OTTHUMT00000255865.1	145	0.00	0	T	NM_138285		184022174	184022174	+1	no_errors	ENST00000295119	ensembl	human	known	69_37n	missense	251	17.16	52	SNP	1.000	G
PCDHGB7	56099	genome.wustl.edu	37	5	140799111	140799111	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr5:140799111T>G	ENST00000398594.2	+	1	1685	c.1685T>G	c.(1684-1686)gTg>gGg	p.V562G	PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	562	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACCGCGGGTGCTGTACCCT	0.716																																						dbGAP											0													28.0	35.0	32.0					5																	140799111		2135	4242	6377	-	-	-	SO:0001583	missense	0			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1685T>G	5.37:g.140799111T>G	ENSP00000381594:p.Val562Gly		Q9UN63	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V562G	ENST00000398594.2	37	c.1685	CCDS47293.1	5	.	.	.	.	.	.	.	.	.	.	t	19.31	3.803400	0.70682	.	.	ENSG00000254122	ENST00000398594	T	0.39056	1.1	5.38	5.38	0.77491	Cadherin (2);Cadherin-like (1);	0.438726	0.14136	U	0.339060	T	0.70552	0.3237	M	0.90542	3.125	0.51482	D	0.999928	D;D	0.67145	0.996;0.993	D;D	0.68192	0.944;0.956	T	0.75337	-0.3353	10	0.87932	D	0	.	14.3591	0.66757	0.0:0.0:0.0:1.0	.	562;562	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	G	562	ENSP00000381594:V562G	ENSP00000381594:V562G	V	+	2	0	PCDHGB7	140779295	0.918000	0.31147	0.992000	0.48379	0.824000	0.46624	5.613000	0.67688	2.033000	0.60031	0.402000	0.26972	GTG	PCDHGB7	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000254122		0.716	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB7	HGNC	protein_coding	OTTHUMT00000376973.1	19	0.00	0	T	NM_018927		140799111	140799111	+1	no_errors	ENST00000398594	ensembl	human	known	69_37n	missense	1	90.00	9	SNP	1.000	G
POLD1	5424	genome.wustl.edu	37	19	50921181	50921181	+	Frame_Shift_Del	DEL	C	C	-	rs142223599		TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr19:50921181delC	ENST00000440232.2	+	27	3354	c.3301delC	c.(3301-3303)cccfs	p.P1102fs	POLD1_ENST00000599857.1_Frame_Shift_Del_p.P1102fs|SPIB_ENST00000596074.1_5'Flank|SPIB_ENST00000270632.7_5'Flank|POLD1_ENST00000595904.1_Frame_Shift_Del_p.P1128fs|SPIB_ENST00000439922.2_5'Flank|SPIB_ENST00000595883.1_5'Flank|CTD-2545M3.6_ENST00000599632.1_Intron|SPIB_ENST00000597855.1_5'Flank	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	1102					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GCGCTTCGGACCCCCTGGACC	0.617								DNA polymerases (catalytic subunits)																														dbGAP											0													28.0	30.0	30.0					19																	50921181		2198	4300	6498	-	-	-	SO:0001589	frameshift_variant	0				CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.3301delC	19.37:g.50921181delC	ENSP00000406046:p.Pro1102fs		Q8NER3|Q96H98	Frame_Shift_Del	DEL	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.P1102fs	ENST00000440232.2	37	c.3301	CCDS12795.1	19																																																																																			POLD1	-	NULL	ENSG00000062822		0.617	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	POLD1	HGNC	protein_coding	OTTHUMT00000464732.1	30	0.00	0	C			50921181	50921181	+1	no_errors	ENST00000440232	ensembl	human	known	69_37n	frame_shift_del	15	44.44	12	DEL	0.998	-
PRDM4	11108	genome.wustl.edu	37	12	108145695	108145695	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr12:108145695C>G	ENST00000228437.5	-	5	1082	c.623G>C	c.(622-624)gGa>gCa	p.G208A	PRDM4_ENST00000547268.1_5'Flank|RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	208					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						CTCTGCCATTCCATCTGTCGA	0.517																																						dbGAP											0													153.0	136.0	142.0					12																	108145695		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.623G>C	12.37:g.108145695C>G	ENSP00000228437:p.Gly208Ala		Q9UFA6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_Znf_PRDM4,pfscan_SET_dom,pfscan_Znf_C2H2	p.G208A	ENST00000228437.5	37	c.623	CCDS9115.1	12	.	.	.	.	.	.	.	.	.	.	C	19.30	3.800938	0.70567	.	.	ENSG00000110851	ENST00000228437	T	0.10960	2.82	5.66	5.66	0.87406	.	0.056115	0.64402	D	0.000001	T	0.10508	0.0257	N	0.24115	0.695	0.80722	D	1	P	0.43392	0.805	B	0.38500	0.275	T	0.04153	-1.0973	10	0.72032	D	0.01	.	19.7559	0.96291	0.0:1.0:0.0:0.0	.	208	Q9UKN5	PRDM4_HUMAN	A	208	ENSP00000228437:G208A	ENSP00000228437:G208A	G	-	2	0	PRDM4	106669825	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.103000	0.77014	2.656000	0.90262	0.655000	0.94253	GGA	PRDM4	-	pirsf_Znf_PRDM4	ENSG00000110851		0.517	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM4	HGNC	protein_coding	OTTHUMT00000406546.1	159	0.00	0	C	NM_012406		108145695	108145695	-1	no_errors	ENST00000228437	ensembl	human	known	69_37n	missense	173	12.63	25	SNP	1.000	G
SEPT14	346288	genome.wustl.edu	37	7	55929654	55929654	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr7:55929654T>C	ENST00000388975.3	-	2	152	c.36A>G	c.(34-36)atA>atG	p.I12M	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	12					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CATCAGCAGGTATTTGTGTGG	0.294																																						dbGAP											0													55.0	50.0	52.0					7																	55929654		1810	4069	5879	-	-	-	SO:0001583	missense	0			AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.36A>G	7.37:g.55929654T>C	ENSP00000373627:p.Ile12Met		A6NCC2|B4DXD6	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pirsf_Septin	p.I12M	ENST00000388975.3	37	c.36	CCDS5519.2	7	.	.	.	.	.	.	.	.	.	.	t	5.552	0.286702	0.10513	.	.	ENSG00000154997	ENST00000388975	T	0.52754	0.65	2.3	-0.312	0.12758	.	.	.	.	.	T	0.26448	0.0646	N	0.14661	0.345	0.09310	N	1	B	0.32939	0.391	B	0.33799	0.17	T	0.17349	-1.0372	9	0.45353	T	0.12	.	4.4897	0.11808	0.0:0.3962:0.0:0.6038	.	12	Q6ZU15	SEP14_HUMAN	M	12	ENSP00000373627:I12M	ENSP00000373627:I12M	I	-	3	3	SEPT14	55897148	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	2.054000	0.41335	-0.074000	0.12820	0.383000	0.25322	ATA	SEPT14	-	NULL	ENSG00000154997		0.294	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT14	HGNC	protein_coding	OTTHUMT00000251489.2	144	0.00	0	T	NM_207366		55929654	55929654	-1	no_errors	ENST00000388975	ensembl	human	known	69_37n	missense	13	85.39	76	SNP	0.000	C
SHISA6	388336	genome.wustl.edu	37	17	11461131	11461131	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr17:11461131G>A	ENST00000409168.3	+	4	1013	c.1013G>A	c.(1012-1014)cGc>cAc	p.R338H	SHISA6_ENST00000441885.3_Missense_Mutation_p.R389H|SHISA6_ENST00000432116.3_Missense_Mutation_p.R370H	NM_001173461.1	NP_001166932.1	Q6ZSJ9	SHSA6_HUMAN	shisa family member 6	338						alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)				breast(1)|endometrium(4)	5						CTGGCTGCCCGCGGCACCCTC	0.647																																						dbGAP											0													13.0	16.0	15.0					17																	11461131		692	1591	2283	-	-	-	SO:0001583	missense	0			AK127379, AK128003	CCDS45615.1, CCDS54089.1, CCDS54090.1	17p13.1-p12	2013-07-31	2013-07-31		ENSG00000188803	ENSG00000188803		"""Shisa homologs"""	34491	protein-coding gene	gene with protein product			"""shisa homolog 6 (Xenopus laevis)"""				Standard	NM_207386		Approved	FLJ45455	uc002gnc.2	Q6ZSJ9	OTTHUMG00000154121	ENST00000409168.3:c.1013G>A	17.37:g.11461131G>A	ENSP00000387157:p.Arg338His		B3KXV5|Q4PL63	Missense_Mutation	SNP	NULL	p.R389H	ENST00000409168.3	37	c.1166	CCDS54090.1	17	.	.	.	.	.	.	.	.	.	.	G	16.39	3.108737	0.56291	.	.	ENSG00000188803	ENST00000441885;ENST00000432116;ENST00000409168;ENST00000343478	.	.	.	4.9	4.9	0.64082	.	0.062990	0.64402	D	0.000004	T	0.74566	0.3733	L	0.55990	1.75	0.39852	D	0.973253	D;B	0.89917	1.0;0.268	D;B	0.67725	0.953;0.055	T	0.78329	-0.2246	9	0.87932	D	0	.	16.8108	0.85718	0.0:0.0:1.0:0.0	.	389;338	Q6ZSJ9-3;Q6ZSJ9	.;SHSA6_HUMAN	H	389;370;338;236	.	ENSP00000340821:R236H	R	+	2	0	SHISA6	11401856	1.000000	0.71417	0.955000	0.39395	0.329000	0.28539	6.032000	0.70918	2.551000	0.86045	0.305000	0.20034	CGC	SHISA6	-	NULL	ENSG00000188803		0.647	SHISA6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHISA6	HGNC	protein_coding	OTTHUMT00000333970.2	12	0.00	0	G	NM_207386		11461131	11461131	+1	no_errors	ENST00000441885	ensembl	human	known	69_37n	missense	3	66.67	6	SNP	0.915	A
SLC2A13	114134	genome.wustl.edu	37	12	40422247	40422247	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr12:40422247C>G	ENST00000280871.4	-	3	831	c.781G>C	c.(781-783)Gaa>Caa	p.E261Q	SLC2A13_ENST00000380858.1_Missense_Mutation_p.E261Q	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	261					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				CGAGGGCTTTCAGGCAAAAAG	0.413										HNSCC(50;0.14)																												dbGAP											0													95.0	97.0	96.0					12																	40422247		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.781G>C	12.37:g.40422247C>G	ENSP00000280871:p.Glu261Gln		Q17S07	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Plexin-like_fold,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	p.E261Q	ENST00000280871.4	37	c.781	CCDS8736.2	12	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003268	0.93287	.	.	ENSG00000151229	ENST00000280871;ENST00000380858	T;T	0.68479	-0.33;-0.33	5.54	5.54	0.83059	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.86851	0.6032	M	0.92784	3.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89112	0.3497	10	0.72032	D	0.01	-22.4225	19.8499	0.96734	0.0:1.0:0.0:0.0	.	261;261	Q96QE2;E9PE47	MYCT_HUMAN;.	Q	261	ENSP00000280871:E261Q;ENSP00000370239:E261Q	ENSP00000280871:E261Q	E	-	1	0	SLC2A13	38708514	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.290000	0.78711	2.779000	0.95612	0.591000	0.81541	GAA	SLC2A13	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	ENSG00000151229		0.413	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A13	HGNC	protein_coding	OTTHUMT00000132849.2	78	0.00	0	C			40422247	40422247	-1	no_errors	ENST00000280871	ensembl	human	known	69_37n	missense	58	15.94	11	SNP	1.000	G
STRBP	55342	genome.wustl.edu	37	9	125898790	125898790	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr9:125898790C>T	ENST00000348403.5	-	15	1931	c.1502G>A	c.(1501-1503)aGa>aAa	p.R501K	STRBP_ENST00000360998.3_Missense_Mutation_p.R487K|STRBP_ENST00000447404.2_Missense_Mutation_p.R501K	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	501					cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						GCCCTGAGTTCTTACCTATAA	0.368																																						dbGAP											0													85.0	80.0	81.0					9																	125898790		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.1502G>A	9.37:g.125898790C>T	ENSP00000321347:p.Arg501Lys		Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Missense_Mutation	SNP	pfam_DZF,pfam_Ds-RNA-bd,smart_DZF,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	p.R501K	ENST00000348403.5	37	c.1502	CCDS6851.1	9	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345404	0.82022	.	.	ENSG00000165209	ENST00000447404;ENST00000348403;ENST00000360998	T;T;T	0.17054	2.56;2.56;2.3	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.16854	0.0405	L	0.27053	0.805	0.80722	D	1	B;B	0.30563	0.188;0.285	B;B	0.36186	0.074;0.219	T	0.08638	-1.0712	10	0.20519	T	0.43	-17.3042	19.0956	0.93249	0.0:1.0:0.0:0.0	.	501;487	Q96SI9;Q96SI9-2	STRBP_HUMAN;.	K	501;501;487	ENSP00000415968:R501K;ENSP00000321347:R501K;ENSP00000354271:R487K	ENSP00000321347:R501K	R	-	2	0	STRBP	124938611	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.858000	0.69532	2.506000	0.84524	0.655000	0.94253	AGA	STRBP	-	NULL	ENSG00000165209		0.368	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRBP	HGNC	protein_coding	OTTHUMT00000053982.1	204	0.00	0	C			125898790	125898790	-1	no_errors	ENST00000348403	ensembl	human	known	69_37n	missense	232	20.27	59	SNP	1.000	T
SYT16	83851	genome.wustl.edu	37	14	62547769	62547769	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr14:62547769C>T	ENST00000430451.2	+	4	1408	c.1211C>T	c.(1210-1212)aCg>aTg	p.T404M	SYT16_ENST00000446982.2_3'UTR|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	404	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AGGGGCAGGACGAACATACAG	0.582																																						dbGAP											0													41.0	45.0	44.0					14																	62547769		2141	4254	6395	-	-	-	SO:0001583	missense	0			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1211C>T	14.37:g.62547769C>T	ENSP00000394700:p.Thr404Met		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.T404M	ENST00000430451.2	37	c.1211	CCDS45121.1	14	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311844	0.81358	.	.	ENSG00000139973	ENST00000430451	D	0.92199	-2.99	5.27	5.27	0.74061	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.97037	0.9032	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97570	1.0104	10	0.87932	D	0	-24.5857	19.0978	0.93260	0.0:1.0:0.0:0.0	.	404	Q17RD7	SYT16_HUMAN	M	404	ENSP00000394700:T404M	ENSP00000394700:T404M	T	+	2	0	SYT16	61617522	1.000000	0.71417	0.965000	0.40720	0.653000	0.38743	7.651000	0.83577	2.735000	0.93741	0.655000	0.94253	ACG	SYT16	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000139973		0.582	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SYT16	HGNC	protein_coding	OTTHUMT00000411700.1	81	0.00	0	C	NM_031914		62547769	62547769	+1	no_errors	ENST00000430451	ensembl	human	novel	69_37n	missense	3	93.88	46	SNP	1.000	T
TCEB3B	51224	genome.wustl.edu	37	18	44560555	44560555	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr18:44560555C>T	ENST00000332567.4	-	1	1433	c.1081G>A	c.(1081-1083)Gtg>Atg	p.V361M	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	361					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						AGGGAGCTCACGGACGTTCTG	0.552																																						dbGAP											0													75.0	73.0	74.0					18																	44560555		2203	4300	6503	-	-	-	SO:0001583	missense	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.1081G>A	18.37:g.44560555C>T	ENSP00000331302:p.Val361Met		Q9P2V9	Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.V361M	ENST00000332567.4	37	c.1081	CCDS11932.1	18	.	.	.	.	.	.	.	.	.	.	C	2.968	-0.213109	0.06140	.	.	ENSG00000206181	ENST00000332567	T	0.07444	3.19	2.27	0.2	0.15181	.	1.236560	0.06660	U	0.764390	T	0.05502	0.0145	N	0.19112	0.55	0.09310	N	1	B	0.24882	0.113	B	0.14578	0.011	T	0.42015	-0.9476	10	0.46703	T	0.11	.	4.7937	0.13261	0.206:0.6508:0.0:0.1432	.	361	Q8IYF1	ELOA2_HUMAN	M	361	ENSP00000331302:V361M	ENSP00000331302:V361M	V	-	1	0	TCEB3B	42814553	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.386000	0.07370	-0.240000	0.09696	-1.598000	0.00824	GTG	TCEB3B	-	NULL	ENSG00000206181		0.552	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	HGNC	protein_coding	OTTHUMT00000255900.1	89	0.00	0	C	NM_016427		44560555	44560555	-1	no_errors	ENST00000332567	ensembl	human	known	69_37n	missense	91	24.17	29	SNP	0.000	T
TCF7L1	83439	genome.wustl.edu	37	2	85361198	85361198	+	Silent	SNP	C	C	G			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr2:85361198C>G	ENST00000282111.3	+	2	584	c.309C>G	c.(307-309)gcC>gcG	p.A103A		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	103					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						ACTATTTCGCCGAAGGTATGT	0.701																																						dbGAP											0													23.0	28.0	27.0					2																	85361198		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.309C>G	2.37:g.85361198C>G			Q53R97|Q6PD70|Q9NP00	Silent	SNP	pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.A103	ENST00000282111.3	37	c.309	CCDS1971.1	2																																																																																			TCF7L1	-	pfam_CTNNB1-bd_N	ENSG00000152284		0.701	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF7L1	HGNC	protein_coding	OTTHUMT00000252301.2	22	0.00	0	C	NM_031283		85361198	85361198	+1	no_errors	ENST00000282111	ensembl	human	known	69_37n	silent	28	30.00	12	SNP	0.997	G
TNRC6B	23112	genome.wustl.edu	37	22	40661106	40661106	+	Missense_Mutation	SNP	A	A	T			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr22:40661106A>T	ENST00000454349.2	+	5	1083	c.872A>T	c.(871-873)gAt>gTt	p.D291V	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.D291V	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	291	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						AGTGGTCAGGATAGAATTGGA	0.468																																						dbGAP											0													96.0	93.0	94.0					22																	40661106		1919	4127	6046	-	-	-	SO:0001583	missense	0			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.872A>T	22.37:g.40661106A>T	ENSP00000401946:p.Asp291Val		B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.D291V	ENST00000454349.2	37	c.872	CCDS54533.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.95|10.95	1.494503|1.494503	0.26774|0.26774	.|.	.|.	ENSG00000100354|ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727|ENST00000446273	T;T|.	0.54279|.	0.58;0.58|.	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.159490|.	0.53938|.	D|.	0.000048|.	T|T	0.37892|0.37892	0.1020|0.1020	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999998|0.999998	P;P;P|.	0.46706|.	0.883;0.622;0.739|.	P;B;B|.	0.46629|.	0.522;0.088;0.266|.	T|T	0.29488|0.29488	-1.0010|-1.0010	10|5	0.36615|.	T|.	0.2|.	-2.0724|-2.0724	14.0421|14.0421	0.64681|0.64681	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	291;291;291|.	Q9UPQ9;A8MYY3;Q9UPQ9-1|.	TNR6B_HUMAN;.;.|.	V|L	291|34	ENSP00000401946:D291V;ENSP00000338371:D291V|.	ENSP00000338371:D291V|.	D|I	+|+	2|1	0|0	TNRC6B|TNRC6B	38991052|38991052	0.996000|0.996000	0.38824|0.38824	0.996000|0.996000	0.52242|0.52242	0.975000|0.975000	0.68041|0.68041	3.536000|3.536000	0.53582|0.53582	1.920000|1.920000	0.55613|0.55613	0.528000|0.528000	0.53228|0.53228	GAT|ATA	TNRC6B	-	NULL	ENSG00000100354		0.468	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	TNRC6B	HGNC	protein_coding		122	0.00	0	A			40661106	40661106	+1	no_errors	ENST00000454349	ensembl	human	known	69_37n	missense	155	34.04	80	SNP	0.983	T
TP53	7157	genome.wustl.edu	37	17	7579364	7579364	+	Frame_Shift_Del	DEL	C	C	-	rs587783063		TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr17:7579364delC	ENST00000269305.4	-	4	512	c.323delG	c.(322-324)ggtfs	p.G108fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.G108fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.G108fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.G108fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.G108fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.G108fs|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	108	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		G -> D (in a sporadic cancer; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.G108_F109delGF(2)|p.G108del(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.?_?ins?(1)|p.Y107fs*44(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.G108D(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGACGGAAACCGTAGCTGCC	0.617		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	29	Deletion - Frameshift(12)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(2)|Insertion - In frame(1)|Substitution - Missense(1)	upper_aerodigestive_tract(5)|breast(5)|bone(4)|large_intestine(3)|ovary(3)|central_nervous_system(2)|lung(2)|liver(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)											61.0	59.0	60.0					17																	7579364		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.323delG	17.37:g.7579364delC	ENSP00000269305:p.Gly108fs		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.G108fs	ENST00000269305.4	37	c.323	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	45	0.00	0	C	NM_000546		7579364	7579364	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	frame_shift_del	13	51.72	15	DEL	0.910	-
USP1	7398	genome.wustl.edu	37	1	62914231	62914231	+	Missense_Mutation	SNP	T	T	A			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr1:62914231T>A	ENST00000339950.4	+	8	2331	c.1516T>A	c.(1516-1518)Tgt>Agt	p.C506S	USP1_ENST00000371146.1_Missense_Mutation_p.C506S	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	506	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		TAAATATTTCTGTGAAAACTG	0.363																																					Ovarian(122;1846 2315 3982 19504)	dbGAP											0													104.0	111.0	108.0					1																	62914231		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"""Ubiquitin-specific peptidases"""	12607	protein-coding gene	gene with protein product		603478	"""ubiquitin specific protease 1"""			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.1516T>A	1.37:g.62914231T>A	ENSP00000343526:p.Cys506Ser		A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.C506S	ENST00000339950.4	37	c.1516	CCDS621.1	1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.903740	0.92035	.	.	ENSG00000162607	ENST00000371146;ENST00000339950	T;T	0.80824	-1.42;-1.42	5.95	5.95	0.96441	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.92414	0.7592	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94165	0.7418	10	0.87932	D	0	-11.9458	16.4237	0.83790	0.0:0.0:0.0:1.0	.	506	O94782	UBP1_HUMAN	S	506	ENSP00000360188:C506S;ENSP00000343526:C506S	ENSP00000343526:C506S	C	+	1	0	USP1	62686819	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.665000	0.83852	2.279000	0.76181	0.533000	0.62120	TGT	USP1	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000162607		0.363	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP1	HGNC	protein_coding	OTTHUMT00000024881.1	142	0.00	0	T	NM_001017415		62914231	62914231	+1	no_errors	ENST00000339950	ensembl	human	known	69_37n	missense	218	17.42	46	SNP	1.000	A
VLDLR	7436	genome.wustl.edu	37	9	2643403	2643403	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr9:2643403G>A	ENST00000382100.3	+	5	1048	c.692G>A	c.(691-693)cGt>cAt	p.R231H	RP11-125B21.2_ENST00000599229.1_RNA|VLDLR_ENST00000382099.2_Missense_Mutation_p.R231H	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	231	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CAGTGTGGCCGTCAGCCAGTC	0.582																																						dbGAP											0													47.0	41.0	43.0					9																	2643403		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.692G>A	9.37:g.2643403G>A	ENSP00000371532:p.Arg231His		B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.R231H	ENST00000382100.3	37	c.692	CCDS6446.1	9	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349753	0.61183	.	.	ENSG00000147852	ENST00000382100;ENST00000382099;ENST00000382092	D;D	0.90844	-2.74;-2.74	5.5	4.6	0.57074	.	0.117180	0.39274	N	0.001411	D	0.85305	0.5666	L	0.35542	1.07	0.58432	D	0.999999	B;B;B	0.13594	0.008;0.005;0.003	B;B;B	0.08055	0.003;0.002;0.002	T	0.80968	-0.1145	10	0.36615	T	0.2	.	14.3127	0.66426	0.0707:0.0:0.9292:0.0	.	231;231;231	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	H	231;231;110	ENSP00000371532:R231H;ENSP00000371531:R231H	ENSP00000371524:R110H	R	+	2	0	VLDLR	2633403	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.265000	0.65519	1.547000	0.49401	0.655000	0.94253	CGT	VLDLR	-	superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt	ENSG00000147852		0.582	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VLDLR	HGNC	protein_coding	OTTHUMT00000051519.2	39	0.00	0	G	NM_003383		2643403	2643403	+1	no_errors	ENST00000382100	ensembl	human	known	69_37n	missense	140	23.91	44	SNP	1.000	A
ZFYVE28	57732	genome.wustl.edu	37	4	2321938	2321938	+	Silent	SNP	G	G	A			TCGA-A2-A04U-01A-11D-A10Y-09	TCGA-A2-A04U-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f819433a-44db-4022-abdb-d6123cfa30b2	85bbbb48-4570-41e6-9e53-b38b2d463cbf	g.chr4:2321938G>A	ENST00000290974.2	-	7	1101	c.762C>T	c.(760-762)tcC>tcT	p.S254S	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Silent_p.S224S|ZFYVE28_ENST00000515312.1_Silent_p.S184S	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	254					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GGAACAGCTCGGACATGTCTT	0.607																																						dbGAP											0													115.0	100.0	105.0					4																	2321938		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.762C>T	4.37:g.2321938G>A			B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Silent	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.S254	ENST00000290974.2	37	c.762	CCDS33942.1	4																																																																																			ZFYVE28	-	NULL	ENSG00000159733		0.607	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFYVE28	HGNC	protein_coding	OTTHUMT00000360078.1	97	0.00	0	G	XM_035371		2321938	2321938	-1	no_errors	ENST00000290974	ensembl	human	known	69_37n	silent	16	71.43	40	SNP	0.923	A
