#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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	i_deletion_substructures	i_domain	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	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
AAK1	22848	genome.wustl.edu	37	2	69723155	69723155	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:69723155G>C	ENST00000409085.4	-	17	2703	c.2327C>G	c.(2326-2328)tCt>tGt	p.S776C	AAK1_ENST00000409068.1_Intron|AAK1_ENST00000406297.3_Missense_Mutation_p.S776C	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	776					endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						GAAAGGATCAGACACGCTTAG	0.502																																																	0													51.0	55.0	54.0					2																	69723155		1924	4079	6003	SO:0001583	missense	22848			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.2327C>G	2.37:g.69723155G>C	ENSP00000386456:p.Ser776Cys		Q4ZFZ3|Q53RX6|Q9UPV4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S776C	ENST00000409085.4	37	c.2327	CCDS1893.2	2	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949853	0.53186	.	.	ENSG00000115977	ENST00000409085;ENST00000406297	T;T	0.36340	1.26;1.26	4.98	4.98	0.66077	.	0.167785	0.40469	N	0.001088	T	0.42562	0.1208	N	0.24115	0.695	0.33747	D	0.62012	D;D;D	0.69078	0.994;0.997;0.983	P;P;P	0.60473	0.753;0.875;0.635	T	0.55108	-0.8192	10	0.56958	D	0.05	-16.6951	15.1118	0.72362	0.0:0.0:1.0:0.0	.	776;776;776	B7ZLC4;Q2M2I8-2;Q2M2I8	.;.;AAK1_HUMAN	C	776	ENSP00000386456:S776C;ENSP00000385181:S776C	ENSP00000385181:S776C	S	-	2	0	AAK1	69576659	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.984000	0.63838	2.590000	0.87494	0.561000	0.74099	TCT	AAK1	-	NULL		0.502	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAK1	HGNC	protein_coding	OTTHUMT00000251847.4	G	NM_014911		69723155	-1	no_errors	ENST00000409085	ensembl	human	known	70_37	missense	SNP	1.000	C
ABCB1	5243	genome.wustl.edu	37	7	87150144	87150144	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:87150144G>C	ENST00000265724.3	-	23	3151	c.2734C>G	c.(2734-2736)Cag>Gag	p.Q912E	ABCB1_ENST00000543898.1_Missense_Mutation_p.Q848E|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	912	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)	TTCTGCTCCTGAGTCAAAGAA	0.423																																																	0													129.0	118.0	122.0					7																	87150144		2203	4300	6503	SO:0001583	missense	5243			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2734C>G	7.37:g.87150144G>C	ENSP00000265724:p.Gln912Glu		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.Q912E	ENST00000265724.3	37	c.2734	CCDS5608.1	7	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738984	0.49045	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.89270	-2.49;-2.49	5.28	4.4	0.53042	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.225178	0.45126	D	0.000386	D	0.85234	0.5650	L	0.42245	1.32	0.29960	N	0.81951	B;B	0.22211	0.022;0.066	B;B	0.32928	0.015;0.155	T	0.81278	-0.1005	10	0.56958	D	0.05	-5.5481	8.9395	0.35720	0.0747:0.0:0.7781:0.1471	.	848;912	B5AK60;P08183	.;MDR1_HUMAN	E	693;912;848	ENSP00000265724:Q912E;ENSP00000444095:Q848E	ENSP00000265724:Q912E	Q	-	1	0	ABCB1	86988080	0.039000	0.19947	1.000000	0.80357	0.978000	0.69477	2.276000	0.43408	1.228000	0.43614	0.655000	0.94253	CAG	ABCB1	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.423	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2	G	NM_000927		87150144	-1	no_errors	ENST00000265724	ensembl	human	known	70_37	missense	SNP	0.998	C
ABCC11	85320	genome.wustl.edu	37	16	48227826	48227826	+	Missense_Mutation	SNP	G	G	T	rs200118643		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr16:48227826G>T	ENST00000394747.1	-	18	2821	c.2472C>A	c.(2470-2472)ttC>ttA	p.F824L	ABCC11_ENST00000394748.1_Missense_Mutation_p.F824L|ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.F824L|ABCC11_ENST00000356608.2_Missense_Mutation_p.F824L	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	824	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TCAGCCACCAGAAGCTGAAGA	0.527																																																	0													129.0	102.0	111.0					16																	48227826		2201	4300	6501	SO:0001583	missense	85320			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.2472C>A	16.37:g.48227826G>T	ENSP00000378230:p.Phe824Leu		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	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.F824L	ENST00000394747.1	37	c.2472	CCDS10732.1	16	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924615	0.52653	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35	5.25	2.16	0.27623	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.331298	0.32028	N	0.006686	D	0.89801	0.6820	L	0.44542	1.39	0.80722	D	1	B;B	0.14438	0.01;0.005	B;B	0.14578	0.006;0.011	D	0.84388	0.0553	10	0.72032	D	0.01	-4.041	13.9319	0.64001	0.0:0.3538:0.6462:0.0	.	824;824	Q96J66-2;Q96J66	.;ABCCB_HUMAN	L	824	ENSP00000311326:F824L;ENSP00000349017:F824L;ENSP00000378231:F824L;ENSP00000378230:F824L	ENSP00000311326:F824L	F	-	3	2	ABCC11	46785327	1.000000	0.71417	0.774000	0.31636	0.944000	0.59088	1.391000	0.34475	0.291000	0.22468	0.655000	0.94253	TTC	ABCC11	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.527	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	HGNC	protein_coding	OTTHUMT00000429984.1	G	NM_032583		48227826	-1	no_errors	ENST00000356608	ensembl	human	known	70_37	missense	SNP	1.000	T
ABHD11	83451	genome.wustl.edu	37	7	73152310	73152310	+	Intron	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:73152310C>T	ENST00000222800.3	-	3	358				ABHD11_ENST00000437775.2_Intron|ABHD11_ENST00000458339.1_Intron|ABHD11_ENST00000395147.4_Intron|LINC00035_ENST00000427153.1_RNA|ABHD11_ENST00000468998.1_5'UTR	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11							mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				GTGGCAATCTCGGAGAATGCC	0.582																																																	0													59.0	64.0	62.0					7																	73152310		692	1591	2283	SO:0001627	intron_variant	83451			AF217971	CCDS5558.1, CCDS47607.1, CCDS47608.1, CCDS75615.1	7q11.23	2010-08-05	2005-01-24	2005-01-27	ENSG00000106077	ENSG00000106077		"""Abhydrolase domain containing"""	16407	protein-coding gene	gene with protein product			"""Williams Beuren syndrome chromosome region 21"""	WBSCR21		12073013	Standard	NR_026910		Approved	PP1226	uc003tzb.3	Q8NFV4	OTTHUMG00000130029	ENST00000222800.3:c.289-245G>A	7.37:g.73152310C>T			H7BYM8|Q6PJU0|Q8N722|Q8N723|Q8NFV2|Q8NFV3|Q9HBS8	RNA	SNP	-	NULL	ENST00000222800.3	37	NULL	CCDS5558.1	7																																																																																			ABHD11	-	-		0.582	ABHD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD11	HGNC	protein_coding	OTTHUMT00000252306.1	C			73152310	-1	no_errors	ENST00000468998	ensembl	human	known	70_37	rna	SNP	0.006	T
ACSL3	2181	genome.wustl.edu	37	2	223787797	223787797	+	Splice_Site	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:223787797C>G	ENST00000357430.3	+	10	1613	c.1082C>G	c.(1081-1083)tCt>tGt	p.S361C	ACSL3_ENST00000392066.3_Splice_Site_p.S361C	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	361					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.S361F(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	ATTTTGTAGTCTTCAAAAATT	0.294			T	ETV1	prostate																																			Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	2	Substitution - Missense(2)	prostate(2)											39.0	42.0	41.0					2																	223787797		2200	4298	6498	SO:0001630	splice_region_variant	2181			D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.1081-1C>G	2.37:g.223787797C>G			Q60I92|Q8IUM9	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.S361C	ENST00000357430.3	37	c.1082	CCDS2455.1	2	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630608	0.67015	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000421680	T;T;T	0.44482	2.84;2.84;0.92	5.36	5.36	0.76844	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.76378	0.3979	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84109	0.0400	10	0.87932	D	0	-17.346	19.0985	0.93265	0.0:1.0:0.0:0.0	.	361	O95573	ACSL3_HUMAN	C	361;361;131	ENSP00000350012:S361C;ENSP00000375918:S361C;ENSP00000404182:S131C	ENSP00000350012:S361C	S	+	2	0	ACSL3	223496041	0.998000	0.40836	1.000000	0.80357	0.388000	0.30384	5.648000	0.67930	2.524000	0.85096	0.655000	0.94253	TCT	ACSL3	-	pfam_AMP-dep_Synth/Lig		0.294	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSL3	HGNC	protein_coding	OTTHUMT00000256862.2	C	NM_004457	Missense_Mutation	223787797	+1	no_errors	ENST00000357430	ensembl	human	known	70_37	missense	SNP	1.000	G
ACSM3	6296	genome.wustl.edu	37	16	20808273	20808273	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr16:20808273G>C	ENST00000289416.5	+	14	2215	c.1740G>C	c.(1738-1740)aaG>aaC	p.K580N	ACSM3_ENST00000567387.1_3'UTR|ACSM3_ENST00000450120.2_Missense_Mutation_p.K572N|ERI2_ENST00000569729.1_3'UTR|ERI2_ENST00000357967.4_3'UTR|ERI2_ENST00000300005.3_Intron|ERI2_ENST00000564349.1_3'UTR	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	580					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						AACTGAGGAAGAAAGAATGGA	0.353																																																	0													79.0	84.0	82.0					16																	20808273		2201	4299	6500	SO:0001583	missense	6296			D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.1740G>C	16.37:g.20808273G>C	ENSP00000289416:p.Lys580Asn		O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.K580N	ENST00000289416.5	37	c.1740	CCDS10589.1	16	.	.	.	.	.	.	.	.	.	.	G	12.15	1.850434	0.32699	.	.	ENSG00000005187	ENST00000289416;ENST00000450120	T;T	0.52295	0.67;0.67	5.82	-4.9	0.03094	.	0.276854	0.38837	N	0.001549	T	0.23330	0.0564	N	0.20445	0.575	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.15484	0.013;0.013	T	0.05022	-1.0911	10	0.19147	T	0.46	-28.0879	8.8377	0.35121	0.3193:0.473:0.2078:0.0	.	572;580	E7ETR5;Q53FZ2	.;ACSM3_HUMAN	N	580;572	ENSP00000289416:K580N;ENSP00000395297:K572N	ENSP00000289416:K580N	K	+	3	2	ACSM3	20715774	0.976000	0.34144	0.855000	0.33649	0.975000	0.68041	0.041000	0.13927	-0.457000	0.07033	0.650000	0.86243	AAG	ACSM3	-	NULL		0.353	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM3	HGNC	protein_coding	OTTHUMT00000254414.2	G	NM_005622		20808273	+1	no_errors	ENST00000289416	ensembl	human	known	70_37	missense	SNP	0.771	C
ADAM15	8751	genome.wustl.edu	37	1	155025221	155025221	+	Missense_Mutation	SNP	G	G	T	rs372706086		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:155025221G>T	ENST00000356955.2	+	2	255	c.154G>T	c.(154-156)Gat>Tat	p.D52Y	ADAM15_ENST00000271836.6_Missense_Mutation_p.D52Y|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368410.2_Missense_Mutation_p.D52Y|ADAM15_ENST00000360674.4_Missense_Mutation_p.D52Y|ADAM15_ENST00000531455.1_Missense_Mutation_p.D62Y|ADAM15_ENST00000359280.4_Missense_Mutation_p.D52Y|ADAM15_ENST00000447332.3_Silent_p.T61T|ADAM15_ENST00000368413.1_Missense_Mutation_p.D52Y|ADAM15_ENST00000368412.3_Missense_Mutation_p.D52Y|ADAM15_ENST00000449910.2_Missense_Mutation_p.D52Y|ADAM15_ENST00000355956.2_Missense_Mutation_p.D52Y	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	52					angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCTTCAGGACGATCTCCCAAT	0.572											OREG0013847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								G	TYR/ASP,TYR/ASP,TYR/ASP,TYR/ASP,TYR/ASP,TYR/ASP	0,4406		0,0,2203	46.0	50.0	49.0		154,154,154,154,154,154	-7.4	0.0	1		49	1,8599		0,1,4299	no	missense,missense,missense,missense,missense,missense	ADAM15	NM_003815.3,NM_207191.1,NM_207194.1,NM_207195.1,NM_207196.1,NM_207197.1	160,160,160,160,160,160	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign	52/815,52/773,52/840,52/839,52/863,52/864	155025221	1,13005	2203	4300	6503	SO:0001583	missense	8751			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.154G>T	1.37:g.155025221G>T	ENSP00000349436:p.Asp52Tyr	1767	B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.D52Y	ENST00000356955.2	37	c.154	CCDS1087.1	1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.565808	0.27915	0.0	1.16E-4	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000368410;ENST00000271836;ENST00000368413;ENST00000531455	T;T;T;T;T;T;T;T;T;T	0.02395	5.76;5.77;5.78;5.67;5.59;5.77;4.31;5.74;4.31;5.77	4.35	-7.38	0.01407	.	1.404130	0.05126	N	0.491522	T	0.00666	0.0022	L	0.34521	1.04	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.15141	0.012;0.012;0.01;0.01;0.01;0.01;0.01;0.01;0.012	B;B;B;B;B;B;B;B;B	0.19391	0.023;0.015;0.014;0.007;0.009;0.009;0.009;0.016;0.025	T	0.46857	-0.9161	10	0.66056	D	0.02	.	2.1754	0.03861	0.2314:0.2715:0.3641:0.133	.	62;69;52;52;52;52;52;52;52	E9PN65;B7Z390;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444	.;.;.;.;.;.;.;.;ADA15_HUMAN	Y	52;52;52;52;52;52;52;52;52;62	ENSP00000349436:D52Y;ENSP00000403843:D52Y;ENSP00000352226:D52Y;ENSP00000353892:D52Y;ENSP00000357397:D52Y;ENSP00000348227:D52Y;ENSP00000357395:D52Y;ENSP00000271836:D52Y;ENSP00000357398:D52Y;ENSP00000432927:D62Y	ENSP00000271836:D52Y	D	+	1	0	ADAM15	153291845	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-2.272000	0.01165	-1.809000	0.01232	-0.323000	0.08544	GAT	ADAM15	-	pfam_Peptidase_M12B_N		0.572	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM15	HGNC	protein_coding	OTTHUMT00000387168.1	G	NM_003815		155025221	+1	no_errors	ENST00000356955	ensembl	human	known	70_37	missense	SNP	0.000	T
ADAMTS7	11173	genome.wustl.edu	37	15	79068583	79068583	+	Silent	SNP	T	T	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:79068583T>A	ENST00000388820.4	-	11	1863	c.1653A>T	c.(1651-1653)tcA>tcT	p.S551S	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	551	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CACAGCTCCGTGAGCAGATGG	0.682																																																	0													53.0	60.0	57.0					15																	79068583		2196	4290	6486	SO:0001819	synonymous_variant	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.1653A>T	15.37:g.79068583T>A			Q14F51|Q6P7J9	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.S551	ENST00000388820.4	37	c.1653	CCDS32303.1	15																																																																																			ADAMTS7	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS		0.682	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS7	HGNC	protein_coding	OTTHUMT00000421331.1	T	NM_014272		79068583	-1	no_errors	ENST00000388820	ensembl	human	known	70_37	silent	SNP	0.759	A
ADARB2	105	genome.wustl.edu	37	10	1779303	1779303	+	Silent	SNP	C	C	T	rs372889691		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:1779303C>T	ENST00000381312.1	-	1	367	c.42G>A	c.(40-42)ctG>ctA	p.L14L		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	14					mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTTGACTGCTCAGCCCTCCAG	0.697																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	83.0	74.0	77.0		42	-0.6	0.2	10		77	0,8600		0,0,4300	no	coding-synonymous	ADARB2	NM_018702.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		14/740	1779303	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	105			AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.42G>A	10.37:g.1779303C>T			B2RPJ5|Q5VUT6|Q5VW42	Silent	SNP	pfam_A_deamin,pfam_Ds-RNA-bd,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin	p.L14	ENST00000381312.1	37	c.42	CCDS7058.1	10																																																																																			ADARB2	-	NULL		0.697	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADARB2	HGNC	protein_coding	OTTHUMT00000046426.1	C	NM_018702		1779303	-1	no_errors	ENST00000381312	ensembl	human	known	70_37	silent	SNP	0.671	T
ADCY10	55811	genome.wustl.edu	37	1	167825573	167825573	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:167825573G>A	ENST00000367851.4	-	17	2185	c.2001C>T	c.(1999-2001)ttC>ttT	p.F667F	ADCY10_ENST00000367848.1_Silent_p.F575F|ADCY10_ENST00000545172.1_Silent_p.F514F	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	667					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACATAATGATGAAGATAGGAA	0.448																																																	0													197.0	189.0	192.0					1																	167825573		2203	4300	6503	SO:0001819	synonymous_variant	55811			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.2001C>T	1.37:g.167825573G>A			B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	p.F667	ENST00000367851.4	37	c.2001	CCDS1265.1	1																																																																																			ADCY10	-	pirsf_Adenylate_cylcase_typ10		0.448	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	HGNC	protein_coding	OTTHUMT00000083663.1	G	NM_018417		167825573	-1	no_errors	ENST00000367851	ensembl	human	known	70_37	silent	SNP	0.991	A
ADRA1B	147	genome.wustl.edu	37	5	159344660	159344660	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:159344660G>A	ENST00000306675.3	+	1	871	c.748G>A	c.(748-750)Gag>Aag	p.E250K		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	250					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|adult heart development (GO:0007512)|behavioral response to cocaine (GO:0048148)|blood vessel remodeling (GO:0001974)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|multicellular organismal development (GO:0007275)|negative regulation of glycogen catabolic process (GO:0045818)|organ growth (GO:0035265)|positive regulation of glycogen catabolic process (GO:0045819)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of the force of heart contraction by epinephrine-norepinephrine (GO:0001997)|regulation of cardiac muscle contraction (GO:0055117)|regulation of vasoconstriction (GO:0019229)|response to amphetamine (GO:0001975)|response to morphine (GO:0043278)|vasoconstriction of artery involved in baroreceptor response to lowering of systemic arterial blood pressure (GO:0001987)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)|protein heterodimerization activity (GO:0046982)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acepromazine(DB01614)|Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Dapiprazole(DB00298)|Desipramine(DB01151)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Ziprasidone(DB00246)	CAACTCCAAGGAGCTGACCCT	0.517																																																	0													106.0	104.0	105.0					5																	159344660		2203	4300	6503	SO:0001583	missense	147			L31773	CCDS4347.1	5q33.3	2012-08-08	2012-05-09		ENSG00000170214	ENSG00000170214		"""GPCR / Class A : Adrenoceptors : alpha"""	278	protein-coding gene	gene with protein product		104220	"""adrenergic, alpha-1B-, receptor"""				Standard	XM_005265818		Approved		uc003lxt.1	P35368	OTTHUMG00000130327	ENST00000306675.3:c.748G>A	5.37:g.159344660G>A	ENSP00000306662:p.Glu250Lys		B0LPE1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrene_rcpt_A1B,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt	p.E250K	ENST00000306675.3	37	c.748	CCDS4347.1	5	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591938	0.66219	.	.	ENSG00000170214	ENST00000306675	T	0.26067	1.76	5.93	5.93	0.95920	GPCR, rhodopsin-like superfamily (1);	0.202478	0.51477	D	0.000092	T	0.36744	0.0978	L	0.51853	1.615	0.58432	D	0.999999	B	0.34061	0.436	B	0.43155	0.41	T	0.05954	-1.0854	10	0.59425	D	0.04	.	18.9177	0.92512	0.0:0.0:1.0:0.0	.	250	P35368	ADA1B_HUMAN	K	250	ENSP00000306662:E250K	ENSP00000306662:E250K	E	+	1	0	ADRA1B	159277238	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	GAG	ADRA1B	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.517	ADRA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA1B	HGNC	protein_coding	OTTHUMT00000252676.1	G			159344660	+1	no_errors	ENST00000306675	ensembl	human	known	70_37	missense	SNP	1.000	A
ADRA2A	150	genome.wustl.edu	37	10	112839110	112839110	+	Silent	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:112839110C>T	ENST00000280155.2	+	1	2321	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	437					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCCGCGCCTTCAAGAAGATCC	0.592																																					Esophageal Squamous(173;605 2658 7278 49362)												0													90.0	90.0	90.0					10																	112839110		2203	4300	6503	SO:0001819	synonymous_variant	150			AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"""GPCR / Class A : Adrenoceptors : alpha"""	281	protein-coding gene	gene with protein product	"""alpha-2AAR subtype C10"", "" alpha-2A-adrenergic receptor"""	104210	"""adrenergic, alpha-2A-, receptor"""	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.1356C>T	10.37:g.112839110C>T			B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adren_rcpt_A2A,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt,prints_Musac_rcpt	p.F452	ENST00000280155.2	37	c.1356	CCDS7569.2	10																																																																																			ADRA2A	-	prints_Adren_rcpt_A2A,prints_Adrnrgc_rcpt,prints_Musac_rcpt		0.592	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA2A	HGNC	protein_coding	OTTHUMT00000050372.2	C	NM_000681		112839110	+1	no_errors	ENST00000280155	ensembl	human	known	70_37	silent	SNP	1.000	T
ADSSL1	122622	genome.wustl.edu	37	14	105196232	105196232	+	Start_Codon_SNP	SNP	G	G	T	rs386781068|rs150558753		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr14:105196232G>T	ENST00000332972.5	+	1	162	c.3G>T	c.(1-3)atG>atT	p.M1I	ADSSL1_ENST00000330877.2_Intron	NM_199165.1	NP_954634.1			adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		gcgtcggcatggtggggagga	0.721																																																	0													19.0	19.0	19.0					14																	105196232		2051	3972	6023	SO:0001582	initiator_codon_variant	122622			AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000332972.5:c.3G>T	14.37:g.105196232G>T	ENSP00000333019:p.Met1Ile			Missense_Mutation	SNP	pfam_Adenylosuccinate_synthetase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase	p.M1I	ENST00000332972.5	37	c.3	CCDS9991.1	14	.	.	.	.	.	.	.	.	.	.	G	4.972	0.180479	0.09443	.	.	ENSG00000185100	ENST00000332972	T	0.41758	0.99	0.158	0.158	0.14942	.	.	.	.	.	T	0.28863	0.0716	.	.	.	0.20074	N	0.999932	B	0.10296	0.003	B	0.01281	0.0	T	0.28650	-1.0037	7	0.87932	D	0	-24.6368	.	.	.	.	1	Q8N142-2	.	I	1	ENSP00000333019:M1I	ENSP00000333019:M1I	M	+	3	0	ADSSL1	104267277	0.830000	0.29337	0.030000	0.17652	0.009000	0.06853	1.494000	0.35616	0.202000	0.20498	0.205000	0.17691	ATG	ADSSL1	-	NULL		0.721	ADSSL1-002	KNOWN	basic|CCDS	protein_coding	ADSSL1	HGNC	protein_coding	OTTHUMT00000410531.1	G		Missense_Mutation	105196232	+1	no_errors	ENST00000332972	ensembl	human	known	70_37	missense	SNP	0.081	T
AEBP1	165	genome.wustl.edu	37	7	44151818	44151818	+	Silent	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:44151818C>G	ENST00000223357.3	+	17	2420	c.2115C>G	c.(2113-2115)ctC>ctG	p.L705L	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Silent_p.L280L	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	705	Interaction with PTEN. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TCCCGGATCTCAACTCTGTGC	0.577																																																	0													76.0	76.0	76.0					7																	44151818		2203	4300	6503	SO:0001819	synonymous_variant	165			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.2115C>G	7.37:g.44151818C>G			Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Silent	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.L705	ENST00000223357.3	37	c.2115	CCDS5476.1	7																																																																																			AEBP1	-	pfam_Peptidase_M14,smart_Peptidase_M14		0.577	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEBP1	HGNC	protein_coding	OTTHUMT00000250993.2	C	NM_001129		44151818	+1	no_errors	ENST00000223357	ensembl	human	known	70_37	silent	SNP	1.000	G
AGFG2	3268	genome.wustl.edu	37	7	100151041	100151041	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:100151041C>T	ENST00000300176.4	+	4	625	c.503C>T	c.(502-504)tCc>tTc	p.S168F	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_Intron	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	168					regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGCAGGGCTCCATCCCAGAA	0.557																																																	0													93.0	92.0	92.0					7																	100151041		2203	4300	6503	SO:0001583	missense	3268			AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"""ADP-ribosylation factor GTPase activating proteins"""	5177	protein-coding gene	gene with protein product		604019	"""HIV-1 Rev binding protein-like"""	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.503C>T	7.37:g.100151041C>T	ENSP00000300176:p.Ser168Phe		O75429|Q96AB9|Q96GL4	Missense_Mutation	SNP	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.S168F	ENST00000300176.4	37	c.503	CCDS5697.1	7	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384869	0.82792	.	.	ENSG00000106351	ENST00000300176	T	0.28454	1.61	5.0	5.0	0.66597	.	0.235831	0.44285	D	0.000466	T	0.54598	0.1868	M	0.72894	2.215	0.80722	D	1	D	0.67145	0.996	D	0.69824	0.966	T	0.56547	-0.7961	10	0.72032	D	0.01	-32.4968	16.2313	0.82344	0.0:1.0:0.0:0.0	.	168	O95081	AGFG2_HUMAN	F	168	ENSP00000300176:S168F	ENSP00000300176:S168F	S	+	2	0	AGFG2	99988977	0.952000	0.32445	0.993000	0.49108	0.826000	0.46750	1.915000	0.39976	2.783000	0.95769	0.644000	0.83932	TCC	AGFG2	-	NULL		0.557	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGFG2	HGNC	protein_coding	OTTHUMT00000342769.1	C	NM_006076		100151041	+1	no_errors	ENST00000300176	ensembl	human	known	70_37	missense	SNP	0.998	T
AGPAT3	56894	genome.wustl.edu	37	21	45374858	45374858	+	5'UTR	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr21:45374858G>C	ENST00000398058.1	+	0	613				AGPAT3_ENST00000546158.1_5'UTR|AGPAT3_ENST00000398063.2_Intron|AGPAT3_ENST00000327505.2_Intron|AGPAT3_ENST00000291572.8_Intron|AGPAT3_ENST00000398061.1_Intron			Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3						CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		GAGGACGGTTGATAAAGTGGA	0.592																																					Pancreas(60;623 1650 5574 52796)												0																																										SO:0001623	5_prime_UTR_variant	56894			AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398058.1:c.-314G>C	21.37:g.45374858G>C			D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	RNA	SNP	-	NULL	ENST00000398058.1	37	NULL	CCDS13703.1	21																																																																																			AGPAT3	-	-		0.592	AGPAT3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AGPAT3	HGNC	protein_coding	OTTHUMT00000195723.1	G	NM_020132		45374858	+1	no_errors	ENST00000497909	ensembl	human	known	70_37	rna	SNP	0.000	C
AKT2	208	genome.wustl.edu	37	19	40741040	40741040	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:40741040G>C	ENST00000392038.2	-	13	1576	c.1278C>G	c.(1276-1278)ttC>ttG	p.F426L	AKT2_ENST00000424901.1_Missense_Mutation_p.F426L|AKT2_ENST00000311278.6_Missense_Mutation_p.F383L|AKT2_ENST00000579047.1_Missense_Mutation_p.F364L	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	426	AGC-kinase C-terminal.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			CCTGAGGTTTGAAGGGTGGCA	0.607			A		"""ovarian, pancreatic """																																			Dom	yes		19	19q13.1-q13.2	208	v-akt murine thymoma viral oncogene homolog 2		E	0													128.0	114.0	119.0					19																	40741040		2203	4300	6503	SO:0001583	missense	208			M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.1278C>G	19.37:g.40741040G>C	ENSP00000375892:p.Phe426Leu		B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom	p.F426L	ENST00000392038.2	37	c.1278	CCDS12552.1	19	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634402	0.47049	.	.	ENSG00000105221	ENST00000392038;ENST00000391844;ENST00000424901;ENST00000311278	T;T;T	0.56776	0.44;0.44;0.44	5.39	4.31	0.51392	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.76891	0.4051	M	0.92691	3.335	0.80722	D	1	D;D;D	0.89917	0.99;1.0;0.998	P;D;P	0.74348	0.88;0.983;0.898	T	0.81876	-0.0731	10	0.87932	D	0	.	13.1853	0.59677	0.0888:0.0:0.9112:0.0	.	364;383;426	B4DG79;Q0VAN0;P31751	.;.;AKT2_HUMAN	L	426;327;426;383	ENSP00000375892:F426L;ENSP00000399532:F426L;ENSP00000309428:F383L	ENSP00000309428:F383L	F	-	3	2	AKT2	45432880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.918000	0.40006	2.808000	0.96608	0.655000	0.94253	TTC	AKT2	-	superfamily_Kinase-like_dom,smart_AGC-kinase_C		0.607	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKT2	HGNC	protein_coding	OTTHUMT00000268029.1	G	NM_001626		40741040	-1	no_errors	ENST00000392038	ensembl	human	known	70_37	missense	SNP	1.000	C
ALG8	79053	genome.wustl.edu	37	11	77830290	77830290	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:77830290G>A	ENST00000299626.5	-	5	555	c.484C>T	c.(484-486)Cat>Tat	p.H162Y	ALG8_ENST00000532552.2_Intron|ALG8_ENST00000376156.3_Missense_Mutation_p.H162Y	NM_024079.4	NP_076984.2	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	162					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			TACTGAAAATGAATATCTGGA	0.323																																																	0													74.0	70.0	71.0					11																	77830290		2200	4289	6489	SO:0001583	missense	79053			AJ224875	CCDS8258.1, CCDS41692.1	11q14.1	2013-03-01	2013-03-01		ENSG00000159063	ENSG00000159063	2.4.1.265		23161	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	608103	"""asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""				Standard	XM_005274247		Approved	MGC2840	uc001oza.1	Q9BVK2	OTTHUMG00000166594	ENST00000299626.5:c.484C>T	11.37:g.77830290G>A	ENSP00000299626:p.His162Tyr		A6NDW6|O60860	Missense_Mutation	SNP	pfam_Glyco_trans_ALG6/ALG8	p.H162Y	ENST00000299626.5	37	c.484	CCDS8258.1	11	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762666	0.89932	.	.	ENSG00000159063	ENST00000299626;ENST00000376156;ENST00000525755;ENST00000530454;ENST00000525870;ENST00000527099	D;D;D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88;-2.88;-2.88	5.54	5.54	0.83059	.	0.042873	0.85682	D	0.000000	D	0.97486	0.9177	H	0.95437	3.67	0.80722	D	1	D;D;D	0.76494	0.996;0.993;0.999	D;D;D	0.81914	0.995;0.983;0.983	D	0.98023	1.0372	10	0.87932	D	0	-13.4446	19.6745	0.95926	0.0:0.0:1.0:0.0	.	162;162;162	B3KQL8;Q9BVK2;A6NDW6	.;ALG8_HUMAN;.	Y	162;162;111;163;74;74	ENSP00000299626:H162Y;ENSP00000365326:H162Y;ENSP00000435467:H111Y;ENSP00000434660:H163Y;ENSP00000435417:H74Y;ENSP00000436064:H74Y	ENSP00000299626:H162Y	H	-	1	0	ALG8	77507938	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.633000	0.90999	2.880000	0.98712	0.650000	0.86243	CAT	ALG8	-	pfam_Glyco_trans_ALG6/ALG8		0.323	ALG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG8	HGNC	protein_coding	OTTHUMT00000390637.1	G	NM_024079		77830290	-1	no_errors	ENST00000299626	ensembl	human	known	70_37	missense	SNP	1.000	A
ANKRD34A	284615	genome.wustl.edu	37	1	145473666	145473666	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:145473666C>T	ENST00000323397.4	+	4	1631	c.338C>T	c.(337-339)tCg>tTg	p.S113L	RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	113						cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCGGGCGCCTCGGCTCTTGTC	0.711																																																	0													20.0	22.0	21.0					1																	145473666		2200	4297	6497	SO:0001583	missense	284615			AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.338C>T	1.37:g.145473666C>T	ENSP00000314103:p.Ser113Leu		B3KSU3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S113L	ENST00000323397.4	37	c.338	CCDS30829.1	1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826961	0.90955	.	.	ENSG00000181039	ENST00000323397	T	0.65916	-0.18	5.13	5.13	0.70059	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.66829	0.2829	L	0.41573	1.285	0.58432	D	0.999993	D	0.89917	1.0	D	0.81914	0.995	T	0.70215	-0.4933	10	0.87932	D	0	-11.0891	16.1197	0.81342	0.0:1.0:0.0:0.0	.	113	Q69YU3	AN34A_HUMAN	L	113	ENSP00000314103:S113L	ENSP00000314103:S113L	S	+	2	0	ANKRD34A	144185023	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.429000	0.80309	2.658000	0.90341	0.491000	0.48974	TCG	ANKRD34A	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.711	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD34A	HGNC	protein_coding	OTTHUMT00000038512.1	C			145473666	+1	no_errors	ENST00000323397	ensembl	human	known	70_37	missense	SNP	1.000	T
ANKRD34A	284615	genome.wustl.edu	37	1	145473676	145473676	+	Silent	SNP	C	C	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:145473676C>A	ENST00000323397.4	+	4	1641	c.348C>A	c.(346-348)gtC>gtA	p.V116V	RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	116						cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGGCTCTTGTCCACGCCCTGG	0.706																																																	0													23.0	23.0	23.0					1																	145473676		2202	4297	6499	SO:0001819	synonymous_variant	284615			AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.348C>A	1.37:g.145473676C>A			B3KSU3	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V116	ENST00000323397.4	37	c.348	CCDS30829.1	1																																																																																			ANKRD34A	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.706	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD34A	HGNC	protein_coding	OTTHUMT00000038512.1	C			145473676	+1	no_errors	ENST00000323397	ensembl	human	known	70_37	silent	SNP	0.996	A
ANKRD34C	390616	genome.wustl.edu	37	15	79585660	79585660	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:79585660G>T	ENST00000558647.2	+	1	34	c.34G>T	c.(34-36)Gga>Tga	p.G12*	ANKRD34C_ENST00000421388.2_Nonsense_Mutation_p.G12*			P0C6C1	AN34C_HUMAN	ankyrin repeat domain 34C	12										endometrium(3)|kidney(1)|skin(1)	5						AAGGACTGATGGAAACTCTTT	0.468																																																	0													154.0	129.0	136.0					15																	79585660		685	1584	2269	SO:0001587	stop_gained	390616				CCDS53965.1	15q25.1	2013-01-10			ENSG00000235711	ENSG00000235711		"""Ankyrin repeat domain containing"""	33888	protein-coding gene	gene with protein product							Standard	NM_001146341		Approved		uc002bet.3	P0C6C1		ENST00000558647.2:c.34G>T	15.37:g.79585660G>T	ENSP00000454921:p.Gly12*		H3BNM1	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G12*	ENST00000558647.2	37	c.34	CCDS53965.1	15	.	.	.	.	.	.	.	.	.	.	G	37	5.977787	0.97168	.	.	ENSG00000235711	ENST00000421388	.	.	.	4.36	3.45	0.39498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	10.4227	0.44359	0.0965:0.0:0.9035:0.0	.	.	.	.	X	12	.	ENSP00000401089:G12X	G	+	1	0	ANKRD34C	77372715	1.000000	0.71417	0.463000	0.27130	0.016000	0.09150	6.099000	0.71466	1.169000	0.42739	0.655000	0.94253	GGA	ANKRD34C	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.468	ANKRD34C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD34C	HGNC	protein_coding	OTTHUMT00000416713.2	G	NM_001146341		79585660	+1	no_errors	ENST00000421388	ensembl	human	known	70_37	nonsense	SNP	0.997	T
APLP1	333	genome.wustl.edu	37	19	36365430	36365430	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:36365430C>G	ENST00000221891.4	+	9	1273	c.1081C>G	c.(1081-1083)Ctg>Gtg	p.L361V	APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000586861.1_Missense_Mutation_p.L355V|APLP1_ENST00000537454.2_Missense_Mutation_p.L322V	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	361					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCTGCAGACTCTGGAGGAGCA	0.627																																																	0													75.0	82.0	80.0					19																	36365430		2203	4300	6503	SO:0001583	missense	333			U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1081C>G	19.37:g.36365430C>G	ENSP00000221891:p.Leu361Val		O00113|Q96A92	Missense_Mutation	SNP	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra,prints_Amyloid_glyco	p.L361V	ENST00000221891.4	37	c.1081	CCDS32997.1	19	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593972	0.66219	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	T;T	0.61627	0.09;0.09	4.51	1.93	0.25924	Amyloidogenic glycoprotein, E2 domain (2);	0.000000	0.36555	N	0.002523	T	0.67411	0.2890	L	0.58510	1.815	0.51012	D	0.999905	P;D;D;D	0.76494	0.913;0.999;0.985;0.988	P;D;P;P	0.73380	0.713;0.98;0.801;0.875	T	0.67635	-0.5620	10	0.62326	D	0.03	-11.8357	9.282	0.37733	0.0:0.7782:0.0:0.2218	.	355;322;361;361	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	V	322;361	ENSP00000441501:L322V;ENSP00000221891:L361V	ENSP00000221891:L361V	L	+	1	2	APLP1	41057270	0.988000	0.35896	1.000000	0.80357	0.995000	0.86356	2.221000	0.42917	0.882000	0.36016	0.555000	0.69702	CTG	APLP1	-	superfamily_Amyloid_glyco_E2_domain		0.627	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	APLP1	HGNC	protein_coding	OTTHUMT00000452564.1	C	NM_001024807		36365430	+1	no_errors	ENST00000221891	ensembl	human	known	70_37	missense	SNP	1.000	G
ARHGAP27	201176	genome.wustl.edu	37	17	43473916	43473916	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:43473916C>G	ENST00000428638.1	-	13	2109	c.2110G>C	c.(2110-2112)Gag>Cag	p.E704Q	ARHGAP27_ENST00000455881.1_Missense_Mutation_p.E363Q|ARHGAP27_ENST00000582826.1_5'Flank|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.E363Q|CTB-39G8.3_ENST00000592389.1_RNA|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.E336Q|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.E682Q|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.E677Q|ARHGAP27_ENST00000532038.1_Missense_Mutation_p.E482Q			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	704	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CTCTCGCGCTCACACAGCGCG	0.746																																																	0													10.0	13.0	12.0					17																	43473916		2176	4213	6389	SO:0001583	missense	201176			AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	31813	protein-coding gene	gene with protein product		610591	"""SH3 domain containing 20"""	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.2110G>C	17.37:g.43473916C>G	ENSP00000403323:p.Glu704Gln		A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_WW_Rsp5_WWP,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom	p.E704Q	ENST00000428638.1	37	c.2110		17	.	.	.	.	.	.	.	.	.	.	C	9.367	1.069554	0.20147	.	.	ENSG00000159314	ENST00000532038;ENST00000376922;ENST00000528384;ENST00000532891;ENST00000428638;ENST00000442348;ENST00000455881	T;T;T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77;2.77;2.77	3.78	3.78	0.43462	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.998079	0.08111	N	0.996141	T	0.07683	0.0193	N	0.25890	0.77	0.80722	D	1	B;B	0.31459	0.022;0.324	B;B	0.26864	0.009;0.074	T	0.12915	-1.0529	10	0.02654	T	1	.	13.4899	0.61388	0.0:1.0:0.0:0.0	.	677;704	F8WBX1;Q6ZUM4	.;RHG27_HUMAN	Q	482;363;336;682;704;677;363	ENSP00000432762:E482Q;ENSP00000366121:E363Q;ENSP00000431591:E336Q;ENSP00000433942:E682Q;ENSP00000403323:E704Q;ENSP00000409330:E677Q;ENSP00000408235:E363Q	ENSP00000366121:E363Q	E	-	1	0	ARHGAP27	40829699	0.036000	0.19791	0.994000	0.49952	0.702000	0.40608	0.920000	0.28705	2.113000	0.64589	0.305000	0.20034	GAG	ARHGAP27	-	superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom		0.746	ARHGAP27-202	KNOWN	basic	protein_coding	ARHGAP27	HGNC	protein_coding		C	NM_199282		43473916	-1	no_errors	ENST00000428638	ensembl	human	known	70_37	missense	SNP	0.980	G
ARHGAP27	201176	genome.wustl.edu	37	17	43507519	43507519	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:43507519C>T	ENST00000428638.1	-	1	126	c.127G>A	c.(127-129)Gag>Aag	p.E43K	ARHGAP27_ENST00000290470.3_Missense_Mutation_p.E43K|ARHGAP27_ENST00000528273.1_Missense_Mutation_p.E43K|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.E43K|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.E43K			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	43	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CACCAGTGCTCGGTGCTGCGC	0.736																																																	0													2.0	3.0	2.0					17																	43507519		1509	3265	4774	SO:0001583	missense	201176			AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	31813	protein-coding gene	gene with protein product		610591	"""SH3 domain containing 20"""	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.127G>A	17.37:g.43507519C>T	ENSP00000403323:p.Glu43Lys		A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_WW_Rsp5_WWP,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom	p.E43K	ENST00000428638.1	37	c.127		17	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010742	0.93346	.	.	ENSG00000159314	ENST00000532891;ENST00000428638;ENST00000442348;ENST00000528273;ENST00000290470	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	3.05	2.02	0.26589	.	.	.	.	.	T	0.45034	0.1322	M	0.68593	2.085	0.28252	N	0.92521	D	0.89917	1.0	P	0.61201	0.885	T	0.25676	-1.0125	9	0.40728	T	0.16	.	7.7181	0.28717	0.0:0.7379:0.2621:0.0	.	43	Q6ZUM4-4	.	K	43	ENSP00000433942:E43K;ENSP00000403323:E43K;ENSP00000409330:E43K;ENSP00000436137:E43K;ENSP00000290470:E43K	ENSP00000290470:E43K	E	-	1	0	ARHGAP27	40863302	0.924000	0.31332	0.954000	0.39281	0.994000	0.84299	2.172000	0.42463	0.481000	0.27557	0.442000	0.29010	GAG	ARHGAP27	-	superfamily_SH3_domain,pfscan_SH3_domain		0.736	ARHGAP27-202	KNOWN	basic	protein_coding	ARHGAP27	HGNC	protein_coding		C	NM_199282		43507519	-1	no_errors	ENST00000428638	ensembl	human	known	70_37	missense	SNP	0.994	T
ARHGAP35	2909	genome.wustl.edu	37	19	47503618	47503618	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:47503618G>C	ENST00000404338.3	+	6	4173	c.4173G>C	c.(4171-4173)atG>atC	p.M1391I		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1391	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										TGAATCTCATGACCAGCGAGA	0.577																																																	0													224.0	234.0	231.0					19																	47503618		2163	4258	6421	SO:0001583	missense	2909			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.4173G>C	19.37:g.47503618G>C	ENSP00000385720:p.Met1391Ile		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.M1391I	ENST00000404338.3	37	c.4173	CCDS46127.1	19	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890729	0.91889	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.39592	1.07	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.79516	0.4459	H	0.99026	4.405	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.87997	0.2753	10	0.87932	D	0	-40.9777	17.3875	0.87421	0.0:0.0:1.0:0.0	.	1391	Q9NRY4-2	.	I	1391	ENSP00000385720:M1391I	ENSP00000324820:M1391I	M	+	3	0	ARHGAP35	52195458	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.747000	0.98863	2.643000	0.89663	0.650000	0.86243	ATG	ARHGAP35	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.577	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	HGNC	protein_coding	OTTHUMT00000466652.1	G	NM_004491		47503618	+1	no_errors	ENST00000404338	ensembl	human	known	70_37	missense	SNP	1.000	C
ARHGAP4	393	genome.wustl.edu	37	X	153178166	153178166	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:153178166C>G	ENST00000350060.5	-	12	1571	c.1530G>C	c.(1528-1530)gaG>gaC	p.E510D	ARHGAP4_ENST00000370016.1_Missense_Mutation_p.E489D|ARHGAP4_ENST00000467421.1_5'Flank|ARHGAP4_ENST00000370028.3_Missense_Mutation_p.E550D|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.E332D|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.E487D	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	510	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGATAAACTTCTCCATGTCTC	0.557																																																	0													114.0	112.0	112.0					X																	153178166		2203	4300	6503	SO:0001583	missense	393			X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.1530G>C	X.37:g.153178166C>G	ENSP00000203786:p.Glu510Asp		Q14144|Q86UY3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.E510D	ENST00000350060.5	37	c.1530	CCDS14736.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.53|15.53	2.861621|2.861621	0.51482|0.51482	.|.	.|.	ENSG00000089820|ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206|ENST00000442172	T;T;T;T;T|.	0.55760|.	0.5;0.5;0.5;0.5;0.5|.	5.46|5.46	3.68|3.68	0.42216|0.42216	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);|.	0.149237|.	0.31381|.	N|.	0.007742|.	T|T	0.44582|0.44582	0.1300|0.1300	L|L	0.39633|0.39633	1.23|1.23	0.31447|0.31447	N|N	0.671286|0.671286	P;B|.	0.36683|.	0.565;0.052|.	B;B|.	0.30646|.	0.118;0.014|.	T|T	0.49643|0.49643	-0.8918|-0.8918	10|5	0.27785|.	T|.	0.31|.	.|.	10.6377|10.6377	0.45575|0.45575	0.0:0.8331:0.0:0.1669|0.0:0.8331:0.0:0.1669	.|.	550;510|.	Q86UY3;P98171|.	.;RHG04_HUMAN|.	D|T	332;550;510;489;487|25	ENSP00000377322:E332D;ENSP00000359045:E550D;ENSP00000203786:E510D;ENSP00000359033:E489D;ENSP00000444169:E487D|.	ENSP00000203786:E510D|.	E|R	-|-	3|2	2|0	ARHGAP4|ARHGAP4	152831360|152831360	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	2.166000|2.166000	0.42406|0.42406	1.095000|1.095000	0.41419|0.41419	0.525000|0.525000	0.51046|0.51046	GAG|AGA	ARHGAP4	-	superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom		0.557	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGAP4	HGNC	protein_coding	OTTHUMT00000061119.1	C	NM_001666		153178166	-1	no_errors	ENST00000350060	ensembl	human	known	70_37	missense	SNP	0.997	G
ARHGEF10L	55160	genome.wustl.edu	37	1	17966704	17966704	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:17966704C>T	ENST00000361221.3	+	21	2338	c.2179C>T	c.(2179-2181)Cgc>Tgc	p.R727C	ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.R722C|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.R430C|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.R688C|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.R500C|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.R688C	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	727						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CAGGTCCGGCCGCCCCATTAG	0.562																																																	0													77.0	62.0	67.0					1																	17966704		2202	4300	6502	SO:0001583	missense	55160			AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.2179C>T	1.37:g.17966704C>T	ENSP00000355060:p.Arg727Cys		B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.R727C	ENST00000361221.3	37	c.2179	CCDS182.1	1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731488	0.89390	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T;T	0.63580	0.18;0.24;0.02;0.24;-0.05;2.22	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.81331	0.4800	M	0.82323	2.585	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.993;0.999;1.0;0.993;0.997;1.0;1.0	D	0.84135	0.0414	10	0.87932	D	0	-28.4818	17.6216	0.88083	0.0:1.0:0.0:0.0	.	500;722;430;488;683;688;727	Q5VXI4;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;ARGAL_HUMAN	C	727;688;722;688;500;500;430	ENSP00000355060:R727C;ENSP00000399401:R688C;ENSP00000394621:R722C;ENSP00000364564:R688C;ENSP00000364557:R500C;ENSP00000167825:R430C	ENSP00000167825:R430C	R	+	1	0	ARHGEF10L	17839291	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.361000	0.66092	2.510000	0.84645	0.563000	0.77884	CGC	ARHGEF10L	-	NULL		0.562	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	ARHGEF10L	HGNC	protein_coding	OTTHUMT00000007147.1	C	NM_018125		17966704	+1	no_errors	ENST00000361221	ensembl	human	known	70_37	missense	SNP	1.000	T
ARHGEF12	23365	genome.wustl.edu	37	11	120312487	120312487	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:120312487C>G	ENST00000397843.2	+	14	1330	c.1164C>G	c.(1162-1164)ttC>ttG	p.F388L	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.F369L|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.F285L	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	388	RGSL.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TGGCTGTTTTCTTACACCATG	0.388			T	MLL	AML																																			Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0													166.0	150.0	155.0					11																	120312487		1835	4080	5915	SO:0001583	missense	23365			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.1164C>G	11.37:g.120312487C>G	ENSP00000380942:p.Phe388Leu		O15086|Q6P526	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.F369L	ENST00000397843.2	37	c.1107	CCDS41727.1	11	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714777	0.48622	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	D;D;D	0.83419	-1.72;-1.72;-1.72	5.85	0.691	0.18045	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.000000	0.47852	D	0.000211	T	0.80243	0.4587	L	0.42245	1.32	0.50813	D	0.999898	B;B;B	0.31581	0.172;0.282;0.329	B;B;B	0.42851	0.128;0.278;0.4	T	0.73550	-0.3947	10	0.46703	T	0.11	-10.8757	11.0479	0.47870	0.0:0.4339:0.0:0.5661	.	285;369;388	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	L	388;369;285	ENSP00000380942:F388L;ENSP00000349056:F369L;ENSP00000432984:F285L	ENSP00000349056:F369L	F	+	3	2	ARHGEF12	119817697	0.860000	0.29831	0.984000	0.44739	0.980000	0.70556	-0.010000	0.12743	-0.115000	0.11915	-0.259000	0.10710	TTC	ARHGEF12	-	pfam_Regulat_G_prot_signal-like,superfamily_Regulat_G_prot_signal_superfam		0.388	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	HGNC	protein_coding	OTTHUMT00000388052.1	C	NM_015313		120312487	+1	no_errors	ENST00000356641	ensembl	human	known	70_37	missense	SNP	0.948	G
ARHGEF12	23365	genome.wustl.edu	37	11	120318967	120318967	+	Silent	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:120318967C>G	ENST00000397843.2	+	20	1813	c.1647C>G	c.(1645-1647)ctC>ctG	p.L549L	ARHGEF12_ENST00000356641.3_Silent_p.L530L|ARHGEF12_ENST00000532993.1_Silent_p.L446L	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	549	RGSL.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ATGTTATTCTCATGTATATGA	0.403			T	MLL	AML																																			Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0													84.0	80.0	81.0					11																	120318967		1853	4101	5954	SO:0001819	synonymous_variant	23365			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.1647C>G	11.37:g.120318967C>G			O15086|Q6P526	Silent	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L530	ENST00000397843.2	37	c.1590	CCDS41727.1	11																																																																																			ARHGEF12	-	pfam_Regulat_G_prot_signal-like,superfamily_Regulat_G_prot_signal_superfam		0.403	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	HGNC	protein_coding	OTTHUMT00000388052.1	C	NM_015313		120318967	+1	no_errors	ENST00000356641	ensembl	human	known	70_37	silent	SNP	0.997	G
ARHGEF12	23365	genome.wustl.edu	37	11	120348212	120348212	+	Nonsense_Mutation	SNP	C	C	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:120348212C>A	ENST00000397843.2	+	36	3675	c.3509C>A	c.(3508-3510)tCa>tAa	p.S1170*	ARHGEF12_ENST00000356641.3_Nonsense_Mutation_p.S1151*|ARHGEF12_ENST00000532993.1_Nonsense_Mutation_p.S1067*	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1170					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CATGGCATTTCAGTCACTGGT	0.393			T	MLL	AML																																			Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0													93.0	96.0	95.0					11																	120348212		1891	4124	6015	SO:0001587	stop_gained	23365			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3509C>A	11.37:g.120348212C>A	ENSP00000380942:p.Ser1170*		O15086|Q6P526	Nonsense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.S1151*	ENST00000397843.2	37	c.3452	CCDS41727.1	11	.	.	.	.	.	.	.	.	.	.	C	45	11.401410	0.99556	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	.	.	.	5.17	5.17	0.71159	.	0.182212	0.26788	N	0.022484	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-10.5193	17.2071	0.86921	0.0:1.0:0.0:0.0	.	.	.	.	X	1170;1151;1067	.	ENSP00000349056:S1151X	S	+	2	0	ARHGEF12	119853422	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.621000	0.61233	2.560000	0.86352	0.585000	0.79938	TCA	ARHGEF12	-	NULL		0.393	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	HGNC	protein_coding	OTTHUMT00000388052.1	C	NM_015313		120348212	+1	no_errors	ENST00000356641	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ARHGEF15	22899	genome.wustl.edu	37	17	8216307	8216307	+	Silent	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:8216307C>G	ENST00000361926.3	+	3	779	c.669C>G	c.(667-669)ctC>ctG	p.L223L	ARHGEF15_ENST00000421050.1_Silent_p.L223L	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	223					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCCTGGAGCTCAGATGGGTGC	0.701																																																	0													64.0	78.0	73.0					17																	8216307		2198	4297	6495	SO:0001819	synonymous_variant	22899			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.669C>G	17.37:g.8216307C>G			A8K6G1|Q8N449|Q9H8B4	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	p.L223	ENST00000361926.3	37	c.669	CCDS11139.1	17																																																																																			ARHGEF15	-	NULL		0.701	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	HGNC	protein_coding	OTTHUMT00000226993.2	C	NM_173728		8216307	+1	no_errors	ENST00000361926	ensembl	human	known	70_37	silent	SNP	0.961	G
ARHGEF17	9828	genome.wustl.edu	37	11	73021844	73021844	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:73021844G>A	ENST00000263674.3	+	1	2511	c.2161G>A	c.(2161-2163)Gaa>Aaa	p.E721K	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	721					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGGTGGGAGCGAATTGAGCAA	0.652																																																	0													39.0	41.0	40.0					11																	73021844		2200	4293	6493	SO:0001583	missense	9828			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.2161G>A	11.37:g.73021844G>A	ENSP00000263674:p.Glu721Lys		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain	p.E721K	ENST00000263674.3	37	c.2161	CCDS8221.1	11	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787570	0.49997	.	.	ENSG00000110237	ENST00000263674	T	0.59364	0.27	4.23	4.23	0.50019	.	0.379668	0.22995	N	0.053156	T	0.42040	0.1185	N	0.24115	0.695	0.28967	N	0.889485	B	0.32071	0.355	B	0.17098	0.017	T	0.51482	-0.8700	10	0.87932	D	0	-1.6964	15.3537	0.74412	0.0:0.0:1.0:0.0	.	721	Q96PE2	ARHGH_HUMAN	K	721	ENSP00000263674:E721K	ENSP00000263674:E721K	E	+	1	0	ARHGEF17	72699492	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.433000	0.97501	2.173000	0.68751	0.561000	0.74099	GAA	ARHGEF17	-	NULL		0.652	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF17	HGNC	protein_coding	OTTHUMT00000397365.1	G	NM_014786		73021844	+1	no_errors	ENST00000263674	ensembl	human	known	70_37	missense	SNP	0.994	A
ARMC8	25852	genome.wustl.edu	37	3	137983011	137983011	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:137983011G>A	ENST00000469044.1	+	14	1527	c.1256G>A	c.(1255-1257)cGa>cAa	p.R419Q	ARMC8_ENST00000538260.1_Missense_Mutation_p.R388Q|ARMC8_ENST00000491704.1_Missense_Mutation_p.R377Q|NME9_ENST00000383180.2_Intron|NME9_ENST00000536478.1_Intron|ARMC8_ENST00000461822.1_Missense_Mutation_p.R352Q|ARMC8_ENST00000485396.1_Missense_Mutation_p.R346Q|NME9_ENST00000341790.5_Intron|NME9_ENST00000484930.1_Intron|NME9_ENST00000317876.4_Intron|ARMC8_ENST00000481646.1_Missense_Mutation_p.R405Q|ARMC8_ENST00000393058.3_Missense_Mutation_p.R409Q	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	419								p.R405Q(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						CAGCAGCTTCGAACCAGTTTC	0.388																																																	1	Substitution - Missense(1)	large_intestine(1)											112.0	101.0	105.0					3																	137983011		1881	4115	5996	SO:0001583	missense	25852				CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1256G>A	3.37:g.137983011G>A	ENSP00000419413:p.Arg419Gln		A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R419Q	ENST00000469044.1	37	c.1256		3	.	.	.	.	.	.	.	.	.	.	G	34	5.326414	0.95708	.	.	ENSG00000114098	ENST00000481646;ENST00000469044;ENST00000491704;ENST00000461822;ENST00000485396;ENST00000538260;ENST00000393058;ENST00000463485;ENST00000539459	T;T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;1.33;1.33;1.33;-0.15;1.54	5.61	5.61	0.85477	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83285	0.5221	M	0.91249	3.19	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.962;1.0	D;P;D;B;D	0.72982	0.952;0.895;0.974;0.194;0.979	D	0.86229	0.1636	10	0.59425	D	0.04	-19.7815	17.1328	0.86730	0.0:0.0:1.0:0.0	.	346;352;388;419;405	B7Z637;B7Z441;F5GWK4;Q8IUR7;Q8IUR7-2	.;.;.;ARMC8_HUMAN;.	Q	405;419;377;352;346;388;409;313;276	ENSP00000420333:R405Q;ENSP00000419413:R419Q;ENSP00000417304:R377Q;ENSP00000420706:R352Q;ENSP00000417049:R346Q;ENSP00000441592:R388Q;ENSP00000376778:R409Q;ENSP00000417403:R313Q	ENSP00000376778:R409Q	R	+	2	0	ARMC8	139465701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.230000	0.95299	2.644000	0.89710	0.561000	0.74099	CGA	ARMC8	-	superfamily_ARM-type_fold,smart_Armadillo		0.388	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	ARMC8	HGNC	protein_coding	OTTHUMT00000357560.1	G	NM_015396		137983011	+1	no_errors	ENST00000469044	ensembl	human	known	70_37	missense	SNP	1.000	A
ARMC8	25852	genome.wustl.edu	37	3	137991869	137991869	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:137991869G>A	ENST00000469044.1	+	17	1811	c.1540G>A	c.(1540-1542)Gaa>Aaa	p.E514K	ARMC8_ENST00000538260.1_Missense_Mutation_p.E483K|ARMC8_ENST00000491704.1_Missense_Mutation_p.E472K|NME9_ENST00000383180.2_Intron|NME9_ENST00000536478.1_Intron|ARMC8_ENST00000461822.1_Missense_Mutation_p.E447K|ARMC8_ENST00000485396.1_Missense_Mutation_p.E441K|NME9_ENST00000341790.5_Intron|NME9_ENST00000484930.1_Intron|NME9_ENST00000317876.4_Intron|ARMC8_ENST00000481646.1_Missense_Mutation_p.E500K|ARMC8_ENST00000393058.3_Missense_Mutation_p.E504K	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	514										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						CTTGAGTACTGAACAGCTATT	0.353																																																	0													107.0	100.0	102.0					3																	137991869		1815	4083	5898	SO:0001583	missense	25852				CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1540G>A	3.37:g.137991869G>A	ENSP00000419413:p.Glu514Lys		A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E514K	ENST00000469044.1	37	c.1540		3	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791356	0.90367	.	.	ENSG00000114098	ENST00000481646;ENST00000469044;ENST00000491704;ENST00000461822;ENST00000485396;ENST00000538260;ENST00000393058;ENST00000539459	T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;1.25;1.25;1.25;-0.16	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66297	0.2775	N	0.22421	0.69	0.80722	D	1	P;D;P;P;P	0.67145	0.872;0.996;0.921;0.956;0.921	B;D;P;P;P	0.70227	0.396;0.968;0.497;0.899;0.497	T	0.61402	-0.7070	10	0.20519	T	0.43	-9.2901	16.9596	0.86269	0.0:0.0:1.0:0.0	.	441;447;483;514;500	B7Z637;B7Z441;F5GWK4;Q8IUR7;Q8IUR7-2	.;.;.;ARMC8_HUMAN;.	K	500;514;472;447;441;483;504;371	ENSP00000420333:E500K;ENSP00000419413:E514K;ENSP00000417304:E472K;ENSP00000420706:E447K;ENSP00000417049:E441K;ENSP00000441592:E483K;ENSP00000376778:E504K	ENSP00000376778:E504K	E	+	1	0	ARMC8	139474559	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.824000	0.86668	2.590000	0.87494	0.650000	0.86243	GAA	ARMC8	-	superfamily_ARM-type_fold,smart_Armadillo		0.353	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	ARMC8	HGNC	protein_coding	OTTHUMT00000357560.1	G	NM_015396		137991869	+1	no_errors	ENST00000469044	ensembl	human	known	70_37	missense	SNP	1.000	A
ART4	420	genome.wustl.edu	37	12	14993509	14993509	+	Silent	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr12:14993509G>C	ENST00000228936.4	-	2	1104	c.723C>G	c.(721-723)ctC>ctG	p.L241L	RP11-233G1.4_ENST00000444324.2_RNA|C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 (Dombrock blood group)	241					arginine metabolic process (GO:0006525)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						CTTCCTTCTTGAGGGAGAAGT	0.478																																																	0													103.0	102.0	102.0					12																	14993509		2203	4300	6503	SO:0001819	synonymous_variant	420			X95826	CCDS8668.1	12q13.2-q13.3	2014-07-18	2014-01-02	2006-01-12	ENSG00000111339	ENSG00000111339		"""CD molecules"", ""Blood group antigens"""	726	protein-coding gene	gene with protein product		110600	"""Dombrock blood group"", ""ADP-ribosyltransferase 4 (DO blood group)"", ""ADP-ribosyltransferase 4"""	DO		9119374	Standard	NM_021071		Approved	DOK1, CD297	uc001rcl.1	Q93070	OTTHUMG00000168738	ENST00000228936.4:c.723C>G	12.37:g.14993509G>C			Q9BZ50|Q9BZ51|Q9HB06	Silent	SNP	pfam_ART,prints_ART	p.L241	ENST00000228936.4	37	c.723	CCDS8668.1	12																																																																																			ART4	-	pfam_ART		0.478	ART4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ART4	HGNC	protein_coding	OTTHUMT00000400859.1	G	NM_021071		14993509	-1	no_errors	ENST00000228936	ensembl	human	known	70_37	silent	SNP	1.000	C
ART4	420	genome.wustl.edu	37	12	14995906	14995906	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr12:14995906C>T	ENST00000228936.4	-	1	523	c.142G>A	c.(142-144)Gag>Aag	p.E48K	RP11-233G1.4_ENST00000444324.2_RNA|C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 (Dombrock blood group)	48				E -> Q (in Ref. 5; CAA65095). {ECO:0000305}.	arginine metabolic process (GO:0006525)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						CCCCCTACCTCAGAACCCTCT	0.537																																																	0													50.0	49.0	49.0					12																	14995906		2203	4300	6503	SO:0001583	missense	420			X95826	CCDS8668.1	12q13.2-q13.3	2014-07-18	2014-01-02	2006-01-12	ENSG00000111339	ENSG00000111339		"""CD molecules"", ""Blood group antigens"""	726	protein-coding gene	gene with protein product		110600	"""Dombrock blood group"", ""ADP-ribosyltransferase 4 (DO blood group)"", ""ADP-ribosyltransferase 4"""	DO		9119374	Standard	NM_021071		Approved	DOK1, CD297	uc001rcl.1	Q93070	OTTHUMG00000168738	ENST00000228936.4:c.142G>A	12.37:g.14995906C>T	ENSP00000228936:p.Glu48Lys		Q9BZ50|Q9BZ51|Q9HB06	Missense_Mutation	SNP	pfam_ART,prints_ART	p.E48K	ENST00000228936.4	37	c.142	CCDS8668.1	12	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016732	0.35606	.	.	ENSG00000111339	ENST00000228936;ENST00000430826;ENST00000544616;ENST00000430129;ENST00000420600	T;T	0.08282	3.24;3.11	4.3	0.354	0.16063	.	1.094010	0.06902	N	0.806178	T	0.05410	0.0143	N	0.19112	0.55	0.20703	N	0.999865	B;B	0.21071	0.051;0.051	B;B	0.14023	0.01;0.01	T	0.44436	-0.9328	10	0.30078	T	0.28	-12.7311	5.1968	0.15243	0.0:0.4208:0.3787:0.2006	.	48;48	A8K6J7;Q93070	.;NAR4_HUMAN	K	48;48;31;31;31	ENSP00000228936:E48K;ENSP00000405689:E31K	ENSP00000228936:E48K	E	-	1	0	ART4	14887173	0.035000	0.19736	0.209000	0.23619	0.019000	0.09904	-0.185000	0.09684	0.057000	0.16193	0.650000	0.86243	GAG	ART4	-	NULL		0.537	ART4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ART4	HGNC	protein_coding	OTTHUMT00000400859.1	C	NM_021071		14995906	-1	no_errors	ENST00000228936	ensembl	human	known	70_37	missense	SNP	0.239	T
ASB13	79754	genome.wustl.edu	37	10	5683875	5683875	+	Silent	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:5683875C>T	ENST00000357700.6	-	5	593	c.567G>A	c.(565-567)gcG>gcA	p.A189A	ASB13_ENST00000479033.1_5'UTR	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	189					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		TGACCTTGGCCGCGTGGTGAA	0.537																																																	0													122.0	100.0	107.0					10																	5683875		2203	4300	6503	SO:0001819	synonymous_variant	79754			AK091935	CCDS7070.1	10p15.1	2013-01-10	2011-01-25		ENSG00000196372	ENSG00000196372		"""Ankyrin repeat domain containing"""	19765	protein-coding gene	gene with protein product		615055	"""ankyrin repeat and SOCS box-containing 13"""			12076535	Standard	NM_024701		Approved	FLJ13134, MGC19879	uc001iig.2	Q8WXK3	OTTHUMG00000017603	ENST00000357700.6:c.567G>A	10.37:g.5683875C>T			A8K7Q6|D3DRR2|Q96EP7|Q9H8Z1	Silent	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.A189	ENST00000357700.6	37	c.567	CCDS7070.1	10																																																																																			ASB13	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.537	ASB13-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB13	HGNC	protein_coding	OTTHUMT00000046564.1	C			5683875	-1	no_errors	ENST00000357700	ensembl	human	known	70_37	silent	SNP	0.008	T
ASIC3	9311	genome.wustl.edu	37	7	150746280	150746280	+	Missense_Mutation	SNP	C	C	T	rs200735941		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:150746280C>T	ENST00000349064.5	+	1	506	c.308C>T	c.(307-309)aCg>aTg	p.T103M	ASIC3_ENST00000297512.8_Missense_Mutation_p.T103M|ASIC3_ENST00000357922.4_Missense_Mutation_p.T103M	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	103					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										TCGCGCCTAACGCCCAACGAC	0.697													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16072	0.0		0.0	False		,,,				2504	0.0																0													75.0	65.0	69.0					7																	150746280		2203	4300	6503	SO:0001583	missense	9311			AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.308C>T	7.37:g.150746280C>T	ENSP00000344838:p.Thr103Met		B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.T103M	ENST00000349064.5	37	c.308	CCDS5916.1	7	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547039	0.45383	.	.	ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512	T;T;T	0.65364	-0.15;-0.15;-0.15	5.11	5.11	0.69529	.	0.000000	0.33591	U	0.004747	T	0.81273	0.4788	M	0.84683	2.71	0.33409	D	0.578355	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.988;0.949;0.999	D	0.87491	0.2427	10	0.66056	D	0.02	-10.2737	16.3968	0.83610	0.0:1.0:0.0:0.0	.	103;103;103	Q9UHC3-2;Q9UHC3-3;Q9UHC3	.;.;ACCN3_HUMAN	M	103	ENSP00000350600:T103M;ENSP00000344838:T103M;ENSP00000297512:T103M	ENSP00000297512:T103M	T	+	2	0	ACCN3	150377213	0.140000	0.22579	0.926000	0.36857	0.059000	0.15707	1.234000	0.32660	2.549000	0.85964	0.561000	0.74099	ACG	ASIC3	-	pfam_Na+channel_ASC		0.697	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC3	HGNC	protein_coding	OTTHUMT00000351725.1	C	NM_004769		150746280	+1	no_errors	ENST00000297512	ensembl	human	known	70_37	missense	SNP	0.849	T
ASXL2	55252	genome.wustl.edu	37	2	25965752	25965752	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:25965752G>C	ENST00000435504.4	-	13	3747	c.3454C>G	c.(3454-3456)Cta>Gta	p.L1152V	ASXL2_ENST00000336112.4_Missense_Mutation_p.L1124V|ASXL2_ENST00000404843.1_Missense_Mutation_p.L635V|ASXL2_ENST00000272341.4_Missense_Mutation_p.L635V			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	1152					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCTGCTTAGACAAAAACGA	0.463																																																	0													97.0	96.0	97.0					2																	25965752		1891	4128	6019	SO:0001583	missense	55252					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.3454C>G	2.37:g.25965752G>C	ENSP00000391447:p.Leu1152Val		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.L1152V	ENST00000435504.4	37	c.3454		2	.	.	.	.	.	.	.	.	.	.	G	16.77	3.216373	0.58452	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.21543	2.04;2.04;2.0;2.0	6.02	4.2	0.49525	.	0.000000	0.64402	D	0.000008	T	0.40570	0.1122	M	0.71581	2.175	0.22796	N	0.998726	D;D	0.71674	0.998;0.997	D;D	0.77557	0.99;0.978	T	0.20273	-1.0280	10	0.23891	T	0.37	-14.133	10.7043	0.45946	0.0695:0.0:0.7999:0.1306	.	635;1152	Q76L83-2;Q76L83	.;ASXL2_HUMAN	V	1152;1124;635;635	ENSP00000391447:L1152V;ENSP00000337250:L1124V;ENSP00000383920:L635V;ENSP00000272341:L635V	ENSP00000272341:L635V	L	-	1	2	ASXL2	25819256	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	2.597000	0.46214	1.548000	0.49413	0.655000	0.94253	CTA	ASXL2	-	NULL		0.463	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	G	NM_018263		25965752	-1	no_errors	ENST00000435504	ensembl	human	known	70_37	missense	SNP	1.000	C
ASXL2	55252	genome.wustl.edu	37	2	25966681	25966681	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:25966681G>A	ENST00000435504.4	-	13	2818	c.2525C>T	c.(2524-2526)tCa>tTa	p.S842L	ASXL2_ENST00000336112.4_Missense_Mutation_p.S814L|ASXL2_ENST00000404843.1_Intron|ASXL2_ENST00000272341.4_Intron			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	842					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAGGCACCTGAGATTAGAGC	0.512																																																	0													164.0	164.0	164.0					2																	25966681		2046	4184	6230	SO:0001583	missense	55252					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.2525C>T	2.37:g.25966681G>A	ENSP00000391447:p.Ser842Leu		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.S842L	ENST00000435504.4	37	c.2525		2	.	.	.	.	.	.	.	.	.	.	G	15.17	2.755181	0.49362	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	T;T	0.22539	1.95;1.95	5.47	4.59	0.56863	.	0.804139	0.11332	N	0.574960	T	0.22666	0.0547	L	0.59436	1.845	0.80722	D	1	B	0.28760	0.221	B	0.22386	0.039	T	0.03534	-1.1027	10	0.87932	D	0	-0.2059	9.6274	0.39759	0.0789:0.1424:0.7787:0.0	.	842	Q76L83	ASXL2_HUMAN	L	842;814	ENSP00000391447:S842L;ENSP00000337250:S814L	ENSP00000337250:S814L	S	-	2	0	ASXL2	25820185	1.000000	0.71417	0.879000	0.34478	0.993000	0.82548	2.660000	0.46749	1.308000	0.44962	0.563000	0.77884	TCA	ASXL2	-	NULL		0.512	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	G	NM_018263		25966681	-1	no_errors	ENST00000435504	ensembl	human	known	70_37	missense	SNP	0.995	A
ASXL2	55252	genome.wustl.edu	37	2	25966688	25966688	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:25966688G>A	ENST00000435504.4	-	13	2811	c.2518C>T	c.(2518-2520)Cta>Tta	p.L840L	ASXL2_ENST00000336112.4_Silent_p.L812L|ASXL2_ENST00000404843.1_Intron|ASXL2_ENST00000272341.4_Intron			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	840					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGAGATTAGAGCAGGACCT	0.522																																																	0													170.0	169.0	170.0					2																	25966688		2040	4185	6225	SO:0001819	synonymous_variant	55252					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.2518C>T	2.37:g.25966688G>A			Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Silent	SNP	superfamily_Znf_FYVE_PHD	p.L840	ENST00000435504.4	37	c.2518		2																																																																																			ASXL2	-	NULL		0.522	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	G	NM_018263		25966688	-1	no_errors	ENST00000435504	ensembl	human	known	70_37	silent	SNP	0.831	A
ASXL3	80816	genome.wustl.edu	37	18	31322918	31322918	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr18:31322918C>T	ENST00000269197.5	+	12	3106	c.3106C>T	c.(3106-3108)Cga>Tga	p.R1036*		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1036					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACCTGAGTCTCGAGCATCCAC	0.507																																																	0													29.0	32.0	31.0					18																	31322918		1906	4134	6040	SO:0001587	stop_gained	80816			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.3106C>T	18.37:g.31322918C>T	ENSP00000269197:p.Arg1036*		Q6ZMX6|Q96MU3|Q9UFC5	Nonsense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.R1036*	ENST00000269197.5	37	c.3106	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	C	38	7.096152	0.98059	.	.	ENSG00000141431	ENST00000269197	.	.	.	5.9	3.94	0.45596	.	1.506370	0.04208	N	0.331143	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4731	0.67529	0.4007:0.5993:0.0:0.0	.	.	.	.	X	1036	.	ENSP00000269197:R1036X	R	+	1	2	ASXL3	29576916	0.815000	0.29118	0.714000	0.30535	0.826000	0.46750	2.348000	0.44045	1.467000	0.48044	0.650000	0.86243	CGA	ASXL3	-	NULL		0.507	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	C			31322918	+1	no_errors	ENST00000269197	ensembl	human	known	70_37	nonsense	SNP	0.997	T
ATL3	25923	genome.wustl.edu	37	11	63410919	63410919	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:63410919G>A	ENST00000398868.3	-	8	1036	c.760C>T	c.(760-762)Cac>Tac	p.H254Y	ATL3_ENST00000332645.4_Missense_Mutation_p.H281Y|RP11-697H9.2_ENST00000540307.1_RNA|ATL3_ENST00000538786.1_Missense_Mutation_p.H236Y	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	254	GB1/RHD3-type G.				endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AAACATGAGTGAATGTGATTT	0.418																																																	0													118.0	114.0	115.0					11																	63410919		1956	4144	6100	SO:0001583	missense	25923				CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.760C>T	11.37:g.63410919G>A	ENSP00000381844:p.His254Tyr		Q8N7W5|Q9H8Q5|Q9UFL1	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.H281Y	ENST00000398868.3	37	c.841	CCDS41663.1	11	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613609	0.66672	.	.	ENSG00000184743	ENST00000398868;ENST00000332645;ENST00000538786	T;T;T	0.74632	-0.86;-0.86;-0.86	5.33	5.33	0.75918	Guanylate-binding protein, N-terminal (1);	0.164082	0.56097	D	0.000034	T	0.77143	0.4087	M	0.82323	2.585	0.52501	D	0.99995	B	0.32573	0.376	B	0.31016	0.123	T	0.79923	-0.1598	10	0.72032	D	0.01	-13.3019	16.5876	0.84731	0.0:0.0:1.0:0.0	.	254	Q6DD88	ATLA3_HUMAN	Y	254;281;236	ENSP00000381844:H254Y;ENSP00000329034:H281Y;ENSP00000437593:H236Y	ENSP00000329034:H281Y	H	-	1	0	ATL3	63167495	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.405000	0.97313	2.508000	0.84585	0.454000	0.30748	CAC	ATL3	-	pfam_Guanylate-bd_N		0.418	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATL3	HGNC	protein_coding	OTTHUMT00000396637.1	G	NM_015459		63410919	-1	no_errors	ENST00000332645	ensembl	human	known	70_37	missense	SNP	1.000	A
ATF4P4	100127952	genome.wustl.edu	37	11	113661405	113661405	+	RNA	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:113661405C>G	ENST00000393544.2	+	0	1453									activating transcription factor 4 pseudogene 4																		CTTGTGATCTCTTTGCCCCCC	0.493																																																	0																																												100127952					11q23.2	2011-09-02	2010-12-16	2010-12-16	ENSG00000256167	ENSG00000256167			787	pseudogene	pseudogene			"""activating transcription factor 4B"""	ATF4B		10610718	Standard	NG_021835		Approved				OTTHUMG00000168194		11.37:g.113661405C>G				RNA	SNP	-	NULL	ENST00000393544.2	37	NULL		11																																																																																			ATF4P4	-	-		0.493	ATF4P4-002	KNOWN	basic	processed_transcript	ATF4P4	HGNC	pseudogene	OTTHUMT00000398707.1	C	NG_021835		113661405	+1	no_errors	ENST00000393544	ensembl	human	known	70_37	rna	SNP	0.358	G
ATP5B	506	genome.wustl.edu	37	12	57033096	57033096	+	Intron	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr12:57033096G>A	ENST00000262030.3	-	9	1338				ATP5B_ENST00000550162.1_5'Flank|BAZ2A_ENST00000179765.5_5'Flank|ATP5B_ENST00000552919.1_Intron|BAZ2A_ENST00000551812.1_5'Flank|BAZ2A_ENST00000379441.3_5'Flank	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide						angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTAGTCCTATGAGAAAAAAGA	0.433																																																	0													42.0	42.0	42.0					12																	57033096		2203	4300	6503	SO:0001627	intron_variant	506			M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.1288-5C>T	12.37:g.57033096G>A			A8K4X0|Q14283	RNA	SNP	-	NULL	ENST00000262030.3	37	NULL	CCDS8924.1	12																																																																																			ATP5B	-	-		0.433	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5B	HGNC	protein_coding	OTTHUMT00000408380.1	G	NM_001686		57033096	-1	no_errors	ENST00000551182	ensembl	human	known	70_37	rna	SNP	0.018	A
ATP6V0B	533	genome.wustl.edu	37	1	44441362	44441362	+	Intron	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:44441362G>A	ENST00000472174.2	+	2	460				ATP6V0B_ENST00000472277.1_Intron|ATP6V0B_ENST00000236067.4_Intron|ATP6V0B_ENST00000532642.1_Intron|ATP6V0B_ENST00000498664.1_5'Flank|ATP6V0B_ENST00000471859.2_Intron	NM_004047.3	NP_004038.1	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b						ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuole (GO:0005773)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GGGGCAGCCTGAGGACGCCCC	0.562																																																	0																																										SO:0001627	intron_variant	533			BC000423	CCDS505.1, CCDS41315.1, CCDS72772.1	1p32.3	2010-04-21	2006-01-20	2002-05-10	ENSG00000117410	ENSG00000117410		"""ATPases / V-type"""	861	protein-coding gene	gene with protein product		603717	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 21kD"", ""ATPase, H+ transporting, lysosomal 21kDa, V0 subunit c''"""	ATP6F		9653649	Standard	XM_005270944		Approved	VMA16, HATPL	uc001cld.3	Q99437	OTTHUMG00000008298	ENST00000472174.2:c.68-110G>A	1.37:g.44441362G>A			D3DPY5|Q6IB32	Silent	SNP	NULL	p.L31	ENST00000472174.2	37	c.93	CCDS505.1	1																																																																																			ATP6V0B	-	NULL		0.562	ATP6V0B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0B	HGNC	protein_coding	OTTHUMT00000022854.2	G	NM_004047		44441362	+1	no_errors	ENST00000461670	ensembl	human	known	70_37	silent	SNP	0.000	A
ATP6V1E2	90423	genome.wustl.edu	37	2	46739562	46739562	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:46739562C>T	ENST00000306448.4	-	2	1402	c.289G>A	c.(289-291)Gag>Aag	p.E97K	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.E97K	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	97					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|proton-transporting two-sector ATPase complex, catalytic domain (GO:0033178)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			AGCTTCGCCTCACTGAGCAAA	0.547																																																	0													97.0	93.0	95.0					2																	46739562		2203	4300	6503	SO:0001583	missense	90423			BC008981	CCDS1826.1	2p21	2011-02-10	2006-01-13	2002-06-21	ENSG00000250565	ENSG00000250565		"""ATPases / V-type"""	18125	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD-like 2"", ""ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 2"""	ATP6EL2, ATP6V1EL2		12036578	Standard	NM_080653		Approved	MGC9341, VMA4, ATP6E1	uc002ruy.3	Q96A05	OTTHUMG00000128819	ENST00000306448.4:c.289G>A	2.37:g.46739562C>T	ENSP00000304891:p.Glu97Lys			Missense_Mutation	SNP	pfam_ATPase_V1/A1-cplx_esu	p.E97K	ENST00000306448.4	37	c.289	CCDS1826.1	2	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842903	0.51057	.	.	ENSG00000250565	ENST00000306448;ENST00000522587	.	.	.	4.22	4.22	0.49857	.	0.536026	0.21463	N	0.074138	T	0.71273	0.3320	M	0.71920	2.185	0.40580	D	0.981389	P	0.45126	0.851	P	0.53185	0.72	T	0.75213	-0.3397	9	0.72032	D	0.01	-0.8114	12.4062	0.55441	0.0:1.0:0.0:0.0	.	97	Q96A05	VATE2_HUMAN	K	97	.	ENSP00000304891:E97K	E	-	1	0	ATP6V1E2	46593066	0.993000	0.37304	0.067000	0.19924	0.006000	0.05464	3.564000	0.53791	2.636000	0.89361	0.655000	0.94253	GAG	ATP6V1E2	-	pfam_ATPase_V1/A1-cplx_esu		0.547	ATP6V1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1E2	HGNC	protein_coding	OTTHUMT00000250753.1	C	NM_080653		46739562	-1	no_errors	ENST00000306448	ensembl	human	known	70_37	missense	SNP	0.497	T
ATRIP	84126	genome.wustl.edu	37	3	48502116	48502116	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:48502116C>G	ENST00000320211.3	+	8	1776	c.1663C>G	c.(1663-1665)Cac>Gac	p.H555D	ATRIP_ENST00000346691.4_Missense_Mutation_p.H555D|ATRIP_ENST00000357105.6_Missense_Mutation_p.H428D|ATRIP_ENST00000412052.1_Missense_Mutation_p.H462D	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	555					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGCAACAGGTCACCTTCAAGC	0.493								Other conserved DNA damage response genes																																									0													78.0	73.0	75.0					3																	48502116		2203	4300	6503	SO:0001583	missense	84126			AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.1663C>G	3.37:g.48502116C>G	ENSP00000323099:p.His555Asp		A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Missense_Mutation	SNP	NULL	p.H555D	ENST00000320211.3	37	c.1663	CCDS2768.1	3	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460234	0.43736	.	.	ENSG00000164053	ENST00000320211;ENST00000346691;ENST00000357105;ENST00000412052	T;T;T;T	0.62788	2.87;-0.0;2.87;2.87	6.17	3.29	0.37713	.	0.463619	0.26112	N	0.026264	T	0.58061	0.2096	M	0.62723	1.935	0.28076	N	0.93237	P;P	0.38504	0.634;0.634	B;B	0.41988	0.372;0.372	T	0.53542	-0.8424	9	.	.	.	-0.3082	6.8118	0.23809	0.1437:0.7039:0.0:0.1524	.	555;555	Q8WXE1-2;Q8WXE1	.;ATRIP_HUMAN	D	555;555;428;462	ENSP00000323099:H555D;ENSP00000302338:H555D;ENSP00000349620:H428D;ENSP00000400930:H462D	.	H	+	1	0	ATRIP	48477120	0.666000	0.27475	0.469000	0.27204	0.962000	0.63368	2.045000	0.41250	0.935000	0.37341	0.655000	0.94253	CAC	ATRIP	-	NULL		0.493	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRIP	HGNC	protein_coding	OTTHUMT00000257507.2	C	NM_130384		48502116	+1	no_errors	ENST00000320211	ensembl	human	known	70_37	missense	SNP	0.301	G
B4GALT3	8703	genome.wustl.edu	37	1	161141583	161141583	+	3'UTR	SNP	T	T	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:161141583T>C	ENST00000319769.5	-	0	1427				B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000432542.2_Intron|B4GALT3_ENST00000367998.1_3'UTR	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3						carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	GGTTTCATGATTAAGGTAGAC	0.572																																																	0													55.0	61.0	59.0					1																	161141583		2203	4300	6503	SO:0001624	3_prime_UTR_variant	8703			BC006099	CCDS1222.1	1q21-q23	2013-02-19			ENSG00000158850	ENSG00000158850		"""Beta 4-glycosyltransferases"""	926	protein-coding gene	gene with protein product		604014				9405390, 9597550	Standard	NM_001199873		Approved	beta4Gal-T3	uc001fys.2	O60512	OTTHUMG00000034348	ENST00000319769.5:c.*23A>G	1.37:g.161141583T>C			D3DVG3|O60910|Q9BPZ4|Q9H8T2	RNA	SNP	-	NULL	ENST00000319769.5	37	NULL	CCDS1222.1	1																																																																																			B4GALT3	-	-		0.572	B4GALT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT3	HGNC	protein_coding	OTTHUMT00000083054.1	T	NM_003779		161141583	-1	no_errors	ENST00000470882	ensembl	human	known	70_37	rna	SNP	0.779	C
BACH1	571	genome.wustl.edu	37	21	30714831	30714831	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr21:30714831C>G	ENST00000399921.1	+	5	2131	c.1888C>G	c.(1888-1890)Ctg>Gtg	p.L630V	BACH1_ENST00000286800.3_Missense_Mutation_p.L630V	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						AGAAGCAGCTCTGAGTCAAGA	0.403																																																	0													105.0	111.0	109.0					21																	30714831		2203	4300	6503	SO:0001583	missense	571			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1888C>G	21.37:g.30714831C>G	ENSP00000382805:p.Leu630Val		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.L630V	ENST00000399921.1	37	c.1888	CCDS13585.1	21	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775602	0.70107	.	.	ENSG00000156273	ENST00000286800;ENST00000399921	T;T	0.74209	-0.82;-0.82	6.01	2.81	0.32909	.	0.000000	0.56097	D	0.000033	T	0.79563	0.4467	M	0.61703	1.905	0.38820	D	0.955607	D	0.65815	0.995	P	0.58331	0.837	T	0.80132	-0.1510	10	0.45353	T	0.12	-12.7114	11.5598	0.50769	0.0:0.7186:0.0:0.2814	.	630	O14867	BACH1_HUMAN	V	630	ENSP00000286800:L630V;ENSP00000382805:L630V	ENSP00000286800:L630V	L	+	1	2	BACH1	29636702	0.947000	0.32204	0.890000	0.34922	0.975000	0.68041	2.058000	0.41374	0.877000	0.35895	0.650000	0.86243	CTG	BACH1	-	NULL		0.403	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	HGNC	protein_coding	OTTHUMT00000171974.1	C	NM_206866		30714831	+1	no_errors	ENST00000286800	ensembl	human	known	70_37	missense	SNP	0.988	G
BAD	572	genome.wustl.edu	37	11	64051746	64051746	+	Nonsense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:64051746G>C	ENST00000394532.3	-	1	365	c.95C>G	c.(94-96)tCa>tGa	p.S32*	GPR137_ENST00000411458.1_5'Flank|GPR137_ENST00000313074.3_5'Flank|GPR137_ENST00000539851.1_5'Flank|BAD_ENST00000309032.3_Nonsense_Mutation_p.S32*|GPR137_ENST00000377702.4_5'Flank|BAD_ENST00000544785.1_Nonsense_Mutation_p.S32*|GPR137_ENST00000438980.2_5'Flank|BAD_ENST00000394531.3_Nonsense_Mutation_p.S32*	NM_004322.3	NP_004313.1	Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	32					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ADP metabolic process (GO:0046031)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|ATP metabolic process (GO:0046034)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to chromate (GO:0071247)|cellular response to hypoxia (GO:0071456)|cellular response to lipid (GO:0071396)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose catabolic process (GO:0006007)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|pore complex assembly (GO:0046931)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of autophagy (GO:0010508)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane potential (GO:0010918)|positive regulation of neuron death (GO:1901216)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of mitochondrial membrane permeability (GO:0046902)|release of cytochrome c from mitochondria (GO:0001836)|response to amino acid (GO:0043200)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to oleic acid (GO:0034201)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|suppression by virus of host apoptotic process (GO:0019050)|type B pancreatic cell proliferation (GO:0044342)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|lipid binding (GO:0008289)|phospholipid binding (GO:0005543)|protein kinase binding (GO:0019901)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						GCCGGAGCCTGAGGGCCCGTC	0.652																																																	0													54.0	56.0	56.0					11																	64051746		2201	4296	6497	SO:0001587	stop_gained	572			AF021792	CCDS8065.1	11q13.1	2014-03-07	2008-08-19		ENSG00000002330	ENSG00000002330			936	protein-coding gene	gene with protein product		603167				8929532	Standard	NM_004322		Approved	BCL2L8, BBC2	uc001nzd.3	Q92934	OTTHUMG00000134302	ENST00000394532.3:c.95C>G	11.37:g.64051746G>C	ENSP00000378040:p.Ser32*		O14803|Q6FH21	Nonsense_Mutation	SNP	pfam_Bcl-2_BAD	p.S32*	ENST00000394532.3	37	c.95	CCDS8065.1	11	.	.	.	.	.	.	.	.	.	.	G	15.34	2.803475	0.50315	.	.	ENSG00000002330	ENST00000394532;ENST00000540152;ENST00000309032;ENST00000544785;ENST00000394531	.	.	.	3.07	2.15	0.27550	.	1.962480	0.02763	N	0.118807	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	6.4327	6.1719	0.20422	0.1459:0.0:0.8541:0.0	.	.	.	.	X	32	.	ENSP00000309103:S32X	S	-	2	0	BAD	63808322	0.005000	0.15991	0.008000	0.14137	0.005000	0.04900	1.054000	0.30455	0.624000	0.30286	-0.258000	0.10820	TCA	BAD	-	pfam_Bcl-2_BAD		0.652	BAD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BAD	HGNC	protein_coding	OTTHUMT00000259180.2	G	NM_032989		64051746	-1	no_errors	ENST00000309032	ensembl	human	known	70_37	nonsense	SNP	0.007	C
BCAS3	54828	genome.wustl.edu	37	17	59161923	59161923	+	Nonsense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:59161923C>G	ENST00000390652.5	+	23	2499	c.2468C>G	c.(2467-2469)tCa>tGa	p.S823*	BCAS3_ENST00000588462.1_Nonsense_Mutation_p.S823*|BCAS3_ENST00000585744.1_Nonsense_Mutation_p.S594*|BCAS3_ENST00000588874.1_Nonsense_Mutation_p.S579*|BCAS3_ENST00000589222.1_Nonsense_Mutation_p.S808*|BCAS3_ENST00000408905.3_Nonsense_Mutation_p.S808*|BCAS3_ENST00000407086.3_Nonsense_Mutation_p.S808*	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GATGCTGCCTCAGGTAGAAAA	0.478																																																	0													62.0	62.0	62.0					17																	59161923		1918	4150	6068	SO:0001587	stop_gained	54828			AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.2468C>G	17.37:g.59161923C>G	ENSP00000375067:p.Ser823*			Nonsense_Mutation	SNP	pfam_BCAS3,pfam_WD40_repeat	p.S823*	ENST00000390652.5	37	c.2468	CCDS45749.1	17	.	.	.	.	.	.	.	.	.	.	C	40	7.925185	0.98565	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000408905	.	.	.	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.3206	0.98668	0.0:1.0:0.0:0.0	.	.	.	.	X	823;808;808	.	ENSP00000375067:S823X	S	+	2	0	BCAS3	56516705	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.267000	0.78462	2.809000	0.96659	0.655000	0.94253	TCA	BCAS3	-	NULL		0.478	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAS3	HGNC	protein_coding	OTTHUMT00000449578.1	C	NM_017679		59161923	+1	no_errors	ENST00000390652	ensembl	human	known	70_37	nonsense	SNP	1.000	G
BCORL1	63035	genome.wustl.edu	37	X	129159284	129159284	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:129159284G>C	ENST00000218147.7	+	7	4205	c.4008G>C	c.(4006-4008)aaG>aaC	p.K1336N	BCORL1_ENST00000303743.5_Missense_Mutation_p.K1336N|BCORL1_ENST00000540052.1_Missense_Mutation_p.K1336N|BCORL1_ENST00000359304.2_Intron			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1336					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GACGGCAGAAGAGCCGAAAAT	0.592																																																	0													75.0	67.0	70.0					X																	129159284		2203	4299	6502	SO:0001583	missense	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4008G>C	X.37:g.129159284G>C	ENSP00000218147:p.Lys1336Asn		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K1336N	ENST00000218147.7	37	c.4008	CCDS14616.1	X	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588808	0.66105	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000540052;ENST00000456822	T;T;T;T	0.54071	0.59;0.94;0.59;1.01	5.61	3.59	0.41128	.	0.000000	0.38492	N	0.001662	T	0.53498	0.1800	L	0.27053	0.805	0.43321	D	0.995344	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.994	T	0.56263	-0.8008	10	0.87932	D	0	-17.6118	4.2493	0.10686	0.556:0.0:0.444:0.0	.	1336;1336	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	N	1336;1336;1336;936	ENSP00000218147:K1336N;ENSP00000307541:K1336N;ENSP00000437775:K1336N;ENSP00000399483:K936N	ENSP00000218147:K1336N	K	+	3	2	BCORL1	128986965	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.232000	0.43018	1.114000	0.41781	0.513000	0.50165	AAG	BCORL1	-	NULL		0.592	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	HGNC	protein_coding	OTTHUMT00000058223.1	G	NM_021946		129159284	+1	no_errors	ENST00000303743	ensembl	human	known	70_37	missense	SNP	1.000	C
BDNF	627	genome.wustl.edu	37	11	27680868	27680868	+	5'UTR	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:27680868C>T	ENST00000525528.1	-	0	337				BDNF_ENST00000530861.1_Intron|BDNF_ENST00000395978.3_Intron|BDNF_ENST00000395980.2_Intron|BDNF_ENST00000438929.1_Intron|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000420794.1_Intron|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000418212.1_Intron|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000533131.1_Intron|BDNF_ENST00000314915.6_Intron|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000395983.3_Intron|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000533246.1_Intron|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000395986.2_Intron|BDNF_ENST00000525950.1_Intron|BDNF-AS_ENST00000532965.1_RNA|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000584049.1_Intron|BDNF_ENST00000356660.4_Intron|BDNF_ENST00000439476.2_5'UTR|BDNF_ENST00000532997.1_Intron|BDNF_ENST00000395981.3_Intron	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor						axon extension (GO:0048675)|axon guidance (GO:0007411)|axon target recognition (GO:0007412)|behavioral fear response (GO:0001662)|chronic inflammatory response (GO:0002544)|circadian rhythm (GO:0007623)|dendrite development (GO:0016358)|dendrite extension (GO:0097484)|feeding behavior (GO:0007631)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glutamate secretion (GO:0014047)|inner ear development (GO:0048839)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuron recognition (GO:0008038)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of synapse assembly (GO:0051965)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of retinal cell programmed cell death (GO:0046668)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|response to anesthetic (GO:0072347)|response to fluoxetine (GO:0014076)|response to hormone (GO:0009725)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to vitamin A (GO:0033189)|taste bud development (GO:0061193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	growth factor activity (GO:0008083)			breast(1)|large_intestine(3)|lung(2)	6						gttctttattctacaccTGGG	0.368																																																	0																																										SO:0001623	5_prime_UTR_variant	497258			AB038670	CCDS7865.1, CCDS7866.1, CCDS44558.1, CCDS41628.1	11p14.1	2014-01-30			ENSG00000176697	ENSG00000176697		"""Endogenous ligands"""	1033	protein-coding gene	gene with protein product	"""neurotrophin"""	113505				2236018, 1889806, 17942328, 17493809	Standard	NM_170731		Approved		uc009yje.3	P23560	OTTHUMG00000178797	ENST00000525528.1:c.-757G>A	11.37:g.27680868C>T			A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	RNA	SNP	-	NULL	ENST00000525528.1	37	NULL	CCDS7866.1	11																																																																																			BDNF-AS	-	-		0.368	BDNF-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BDNF-AS	HGNC	protein_coding	OTTHUMT00000388135.1	C	NM_170735		27680868	+1	no_errors	ENST00000530313	ensembl	human	known	70_37	rna	SNP	0.033	T
BDNF	627	genome.wustl.edu	37	11	27681051	27681051	+	5'UTR	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:27681051C>G	ENST00000525528.1	-	0	154				BDNF_ENST00000530861.1_Intron|BDNF_ENST00000395978.3_Intron|BDNF_ENST00000395980.2_Intron|BDNF_ENST00000438929.1_Intron|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000420794.1_Intron|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000418212.1_Intron|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000533131.1_Intron|BDNF_ENST00000314915.6_Intron|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000395983.3_Intron|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000533246.1_Intron|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000395986.2_Intron|BDNF_ENST00000525950.1_Intron|BDNF-AS_ENST00000532965.1_RNA|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000584049.1_Intron|BDNF_ENST00000356660.4_Intron|BDNF_ENST00000439476.2_5'UTR|BDNF_ENST00000532997.1_Intron|BDNF_ENST00000395981.3_Intron	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor						axon extension (GO:0048675)|axon guidance (GO:0007411)|axon target recognition (GO:0007412)|behavioral fear response (GO:0001662)|chronic inflammatory response (GO:0002544)|circadian rhythm (GO:0007623)|dendrite development (GO:0016358)|dendrite extension (GO:0097484)|feeding behavior (GO:0007631)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glutamate secretion (GO:0014047)|inner ear development (GO:0048839)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuron recognition (GO:0008038)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of synapse assembly (GO:0051965)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of retinal cell programmed cell death (GO:0046668)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|response to anesthetic (GO:0072347)|response to fluoxetine (GO:0014076)|response to hormone (GO:0009725)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to vitamin A (GO:0033189)|taste bud development (GO:0061193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	growth factor activity (GO:0008083)			breast(1)|large_intestine(3)|lung(2)	6						TCAAATGCCTCCCATATGCAG	0.398																																																	0																																										SO:0001623	5_prime_UTR_variant	497258			AB038670	CCDS7865.1, CCDS7866.1, CCDS44558.1, CCDS41628.1	11p14.1	2014-01-30			ENSG00000176697	ENSG00000176697		"""Endogenous ligands"""	1033	protein-coding gene	gene with protein product	"""neurotrophin"""	113505				2236018, 1889806, 17942328, 17493809	Standard	NM_170731		Approved		uc009yje.3	P23560	OTTHUMG00000178797	ENST00000525528.1:c.-940G>C	11.37:g.27681051C>G			A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	RNA	SNP	-	NULL	ENST00000525528.1	37	NULL	CCDS7866.1	11																																																																																			BDNF-AS	-	-		0.398	BDNF-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BDNF-AS	HGNC	protein_coding	OTTHUMT00000388135.1	C	NM_170735		27681051	+1	no_errors	ENST00000530313	ensembl	human	known	70_37	rna	SNP	0.858	G
BRCA1	672	genome.wustl.edu	37	17	41223131	41223131	+	Silent	SNP	C	C	T	rs587782392		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:41223131C>T	ENST00000357654.3	-	15	4918	c.4800G>A	c.(4798-4800)ttG>ttA	p.L1600L	BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_Silent_p.L1304L|BRCA1_ENST00000468300.1_Silent_p.L496L|BRCA1_ENST00000352993.3_Silent_p.L458L|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Silent_p.L1553L|BRCA1_ENST00000491747.2_Silent_p.L496L|BRCA1_ENST00000471181.2_Silent_p.L1621L|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000591534.1_Silent_p.L91L|BRCA1_ENST00000351666.3_Silent_p.L417L	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1600					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGGGAACTTTCAATGCAGAGG	0.473			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																													yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0													144.0	140.0	141.0					17																	41223131		2203	4300	6503	SO:0001819	synonymous_variant	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.4800G>A	17.37:g.41223131C>T			O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Silent	SNP	pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING	p.L1621	ENST00000357654.3	37	c.4863	CCDS11453.1	17																																																																																			BRCA1	-	pirsf_BRCA1		0.473	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA1	HGNC	protein_coding	OTTHUMT00000348798.2	C	NM_007294		41223131	-1	no_errors	ENST00000471181	ensembl	human	known	70_37	silent	SNP	0.918	T
BPTF	2186	genome.wustl.edu	37	17	65889808	65889808	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:65889808C>T	ENST00000321892.4	+	8	2817	c.2756C>T	c.(2755-2757)tCa>tTa	p.S919L	BPTF_ENST00000335221.5_Missense_Mutation_p.S919L|BPTF_ENST00000424123.3_Missense_Mutation_p.S780L|BPTF_ENST00000306378.6_Missense_Mutation_p.S793L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	919	Interaction with MAZ.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AACATCCCTTCATCCTTTCTT	0.368																																																	0													67.0	68.0	67.0					17																	65889808		2201	4297	6498	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.2756C>T	17.37:g.65889808C>T	ENSP00000315454:p.Ser919Leu		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.S919L	ENST00000321892.4	37	c.2756		17	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601369	0.46423	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.62105	0.05;0.06;0.06	5.61	5.61	0.85477	.	.	.	.	.	T	0.48409	0.1498	N	0.20986	0.625	0.40625	D	0.981803	B;P;P	0.41848	0.278;0.481;0.763	B;B;B	0.33960	0.039;0.164;0.173	T	0.50110	-0.8866	9	0.33141	T	0.24	-10.3001	20.0016	0.97412	0.0:1.0:0.0:0.0	.	919;793;919	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	L	793;919;919;717	ENSP00000307208:S793L;ENSP00000334351:S919L;ENSP00000315454:S919L	ENSP00000307208:S793L	S	+	2	0	BPTF	63320270	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	4.863000	0.62983	2.802000	0.96397	0.655000	0.94253	TCA	BPTF	-	NULL		0.368	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		C	NM_182641, NM_004459		65889808	+1	no_errors	ENST00000321892	ensembl	human	known	70_37	missense	SNP	0.997	T
CCDC7	79741	genome.wustl.edu	37	10	33123816	33123816	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:33123816G>C	ENST00000375030.2	+	15	1650	c.1032G>C	c.(1030-1032)aaG>aaC	p.K344N	C10orf68_ENST00000375025.4_Missense_Mutation_p.K421N|C10orf68_ENST00000375028.3_Missense_Mutation_p.K361N			Q9H943	CJ068_HUMAN		385										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TACAGTCAAAGAGTCATGGAG	0.308																																																	0													44.0	40.0	42.0					10																	33123816		2197	4295	6492	SO:0001583	missense	79741																														ENST00000375030.2:c.1032G>C	10.37:g.33123816G>C	ENSP00000364170:p.Lys344Asn		B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	NULL	p.K421N	ENST00000375030.2	37	c.1263		10	.	.	.	.	.	.	.	.	.	.	.	4.892	0.165698	0.09339	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.31510	1.51;1.49;1.5;1.49	2.24	1.33	0.21861	.	.	.	.	.	T	0.43853	0.1266	L	0.57536	1.79	0.09310	N	1	B;D;B;D	0.76494	0.001;0.999;0.0;0.999	B;D;B;D	0.71656	0.002;0.974;0.002;0.974	T	0.18085	-1.0348	9	0.33940	T	0.23	.	6.2233	0.20693	0.0:0.0:0.701:0.299	.	338;385;361;344	B4DX58;Q9H943;A2A3B4;A2A3D6	.;CJ068_HUMAN;.;.	N	385;344;361;421;333	ENSP00000303710:K385N;ENSP00000364170:K344N;ENSP00000364168:K361N;ENSP00000364165:K421N	ENSP00000303710:K385N	K	+	3	2	C10orf68	33163822	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	-0.012000	0.12699	0.513000	0.28278	-0.323000	0.08544	AAG	C10orf68	-	NULL		0.308	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	C10orf68	HGNC	protein_coding	OTTHUMT00000313999.2	G			33123816	+1	no_errors	ENST00000375025	ensembl	human	known	70_37	missense	SNP	0.004	C
C12orf5	57103	genome.wustl.edu	37	12	4459046	4459046	+	Nonsense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr12:4459046C>G	ENST00000179259.4	+	4	321	c.254C>G	c.(253-255)tCa>tGa	p.S85*	C12orf5_ENST00000537251.1_3'UTR	NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	85					intestinal epithelial cell development (GO:0060576)|negative regulation of macromitophagy (GO:1901525)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|response to gamma radiation (GO:0010332)|response to xenobiotic stimulus (GO:0009410)	intracellular (GO:0005622)	fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			AAGTATGACTCAAGACTTCGG	0.338																																					Colon(1;100 192 35375 49454 52532)												0													93.0	96.0	95.0					12																	4459046		2203	4300	6503	SO:0001587	stop_gained	57103			AJ272206	CCDS8525.1	12p13.32	2014-05-29	2009-11-24	2009-11-24	ENSG00000078237	ENSG00000078237	3.1.3.46		1185	protein-coding gene	gene with protein product	"""TP53-induced glycolysis and apoptosis regulator"""	610775				16140933, 16839880, 18945750, 19713938	Standard	NM_020375		Approved	TIGAR	uc001qmp.3	Q9NQ88		ENST00000179259.4:c.254C>G	12.37:g.4459046C>G	ENSP00000179259:p.Ser85*		B2R840	Nonsense_Mutation	SNP	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1	p.S85*	ENST00000179259.4	37	c.254	CCDS8525.1	12	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822726	0.50739	.	.	ENSG00000078237	ENST00000179259	.	.	.	4.58	2.61	0.31194	.	0.456144	0.22721	N	0.056445	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-14.2323	9.3455	0.38107	0.0:0.676:0.2445:0.0795	.	.	.	.	X	85	.	ENSP00000179259:S85X	S	+	2	0	C12orf5	4329307	0.975000	0.34042	0.985000	0.45067	0.396000	0.30629	1.266000	0.33039	1.286000	0.44565	-0.140000	0.14226	TCA	C12orf5	-	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1		0.338	C12orf5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf5	HGNC	protein_coding	OTTHUMT00000398290.1	C	NM_020375		4459046	+1	no_errors	ENST00000179259	ensembl	human	known	70_37	nonsense	SNP	0.325	G
C1orf127	148345	genome.wustl.edu	37	1	11014198	11014198	+	Splice_Site	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:11014198C>T	ENST00000377008.4	-	9	922	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	C1orf127_ENST00000377004.4_Splice_Site_p.R326Q			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	159										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		TTCTTGGCATCGCTGTGGGGC	0.582																																																	0													95.0	100.0	98.0					1																	11014198		2203	4300	6503	SO:0001630	splice_region_variant	148345			AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.475-1G>A	1.37:g.11014198C>T			A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	superfamily_DNA-bd_dom_put	p.R326Q	ENST00000377008.4	37	c.977		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.917|1.917	-0.449164|-0.449164	0.04572|0.04572	.|.	.|.	ENSG00000175262|ENSG00000175262	ENST00000418570;ENST00000520253|ENST00000377004;ENST00000377008	.|T;T	.|0.23348	.|1.92;1.91	4.93|4.93	-3.64|-3.64	0.04515|0.04515	.|.	.|1.439850	.|0.04755	.|N	.|0.425279	T|T	0.09949|0.09949	0.0244|0.0244	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.10296	.|0.003;0.003;0.003	.|B;B;B	.|0.01281	.|0.0;0.0;0.0	T|T	0.18178|0.18178	-1.0345|-1.0345	5|10	.|0.16896	.|T	.|0.51	0.0225|0.0225	1.7209|1.7209	0.02911|0.02911	0.1115:0.1709:0.2889:0.4287|0.1115:0.1709:0.2889:0.4287	.|.	.|177;177;159	.|B7ZLG7;Q8N9H9-2;Q8N9H9	.|.;.;CA127_HUMAN	N|Q	161;304|326;159	.|ENSP00000366203:R326Q;ENSP00000366207:R159Q	.|ENSP00000366203:R326Q	D|R	-|-	1|2	0|0	C1orf127|C1orf127	10936785|10936785	0.677000|0.677000	0.27577|0.27577	0.004000|0.004000	0.12327|0.12327	0.023000|0.023000	0.10783|0.10783	-0.058000|-0.058000	0.11750|0.11750	-1.076000|-1.076000	0.03125|0.03125	-0.812000|-0.812000	0.03155|0.03155	GAT|CGA	C1orf127	-	NULL		0.582	C1orf127-202	KNOWN	basic	protein_coding	C1orf127	HGNC	protein_coding		C	NM_173507	Missense_Mutation	11014198	-1	no_errors	ENST00000377004	ensembl	human	known	70_37	missense	SNP	0.097	T
C1orf141	400757	genome.wustl.edu	37	1	67559205	67559205	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:67559205G>C	ENST00000371007.2	-	8	795	c.686C>G	c.(685-687)tCt>tGt	p.S229C	C1orf141_ENST00000371006.1_Missense_Mutation_p.S229C|C1orf141_ENST00000544837.1_Missense_Mutation_p.S229C	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	229										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						CAAAGGATGAGAAGAAAATCT	0.284																																																	0													42.0	43.0	43.0					1																	67559205		2200	4287	6487	SO:0001583	missense	400757			BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.686C>G	1.37:g.67559205G>C	ENSP00000360046:p.Ser229Cys		Q0P5P5|Q5JVX5	Missense_Mutation	SNP	NULL	p.S229C	ENST00000371007.2	37	c.686	CCDS30745.1	1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078635	0.36662	.	.	ENSG00000203963	ENST00000371007;ENST00000371006;ENST00000544837	T;T;T	0.30448	1.53;1.53;1.53	4.86	0.67	0.17923	.	0.800182	0.10927	N	0.618768	T	0.08447	0.0210	N	0.14661	0.345	0.09310	N	1	P	0.52463	0.953	P	0.48571	0.582	T	0.08659	-1.0711	10	0.52906	T	0.07	1.208	2.7681	0.05327	0.3553:0.0:0.4413:0.2034	.	229	Q5JVX7	CA141_HUMAN	C	229	ENSP00000360046:S229C;ENSP00000360045:S229C;ENSP00000444018:S229C	ENSP00000360045:S229C	S	-	2	0	C1orf141	67331793	0.000000	0.05858	0.002000	0.10522	0.034000	0.12701	-0.216000	0.09266	0.251000	0.21505	0.561000	0.74099	TCT	C1orf141	-	NULL		0.284	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf141	HGNC	protein_coding	OTTHUMT00000026096.2	G	NM_001013674		67559205	-1	no_errors	ENST00000371006	ensembl	human	known	70_37	missense	SNP	0.001	C
C2	717	genome.wustl.edu	37	6	31902038	31902038	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:31902038C>G	ENST00000299367.5	+	6	1087	c.811C>G	c.(811-813)Ctc>Gtc	p.L271V	C2_ENST00000442278.2_Missense_Mutation_p.L139V|C2_ENST00000469372.1_Intron|CFB_ENST00000477310.1_Intron|CFB_ENST00000556679.1_Intron|C2_ENST00000452323.2_Intron|C2_ENST00000418949.2_Missense_Mutation_p.L271V|CFB_ENST00000456570.1_Intron	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	271	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		AAATGACTTTCTCATCTTCAA	0.537																																																	0													166.0	159.0	162.0					6																	31902038		2203	4300	6503	SO:0001583	missense	717				CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.811C>G	6.37:g.31902038C>G	ENSP00000299367:p.Leu271Val		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	pfam_VWF_A,pfam_Peptidase_S1_S6,pfam_Sushi_SCR_CCP,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_VWF_A,smart_Peptidase_S1_S6,pirsf_Compl_C2_B,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.L271V	ENST00000299367.5	37	c.811	CCDS4728.1	6	.	.	.	.	.	.	.	.	.	.	C	5.598	0.295127	0.10622	.	.	ENSG00000166278	ENST00000452202;ENST00000299367;ENST00000442278;ENST00000418949;ENST00000494905	T;D;D;T;T	0.82984	-1.13;-1.67;-1.67;-1.13;-1.13	4.94	-9.88	0.00467	von Willebrand factor, type A (3);	5.647610	0.00424	N	0.000061	T	0.50222	0.1603	.	.	.	0.09310	N	1	B;B;B;B	0.19817	0.011;0.002;0.001;0.039	B;B;B;B	0.16289	0.012;0.011;0.001;0.015	T	0.54193	-0.8330	9	0.30078	T	0.28	5.4178	13.1212	0.59327	0.3945:0.091:0.5145:0.0	.	242;139;271;271	B4DV48;E9PFN7;P06681;Q8N6L6	.;.;CO2_HUMAN;.	V	148;271;139;271;130	ENSP00000406121:L148V;ENSP00000299367:L271V;ENSP00000395683:L139V;ENSP00000406190:L271V;ENSP00000419048:L130V	ENSP00000299367:L271V	L	+	1	0	C2	32010017	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-4.195000	0.00276	-3.625000	0.00130	-0.176000	0.13171	CTC	C2	-	pfam_VWF_A,smart_VWF_A,pirsf_Compl_C2_B,pfscan_VWF_A		0.537	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2	HGNC	protein_coding	OTTHUMT00000076379.9	C			31902038	+1	no_errors	ENST00000299367	ensembl	human	known	70_37	missense	SNP	0.000	G
C3	718	genome.wustl.edu	37	19	6679458	6679458	+	Silent	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:6679458C>T	ENST00000245907.6	-	37	4598	c.4506G>A	c.(4504-4506)ctG>ctA	p.L1502L	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1502					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	AGAGCTTGTTCAGCTTTCCAT	0.562																																																	0													188.0	177.0	181.0					19																	6679458		2203	4300	6503	SO:0001819	synonymous_variant	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4506G>A	19.37:g.6679458C>T			A7E236	Silent	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.L1502	ENST00000245907.6	37	c.4506	CCDS32883.1	19																																																																																			C3	-	superfamily_A-macroglobulin_rcpt-bd		0.562	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	C	NM_000064		6679458	-1	no_errors	ENST00000245907	ensembl	human	known	70_37	silent	SNP	0.005	T
C3orf27	23434	genome.wustl.edu	37	3	128292326	128292326	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:128292326C>G	ENST00000356020.2	-	3	1213	c.247G>C	c.(247-249)Gag>Cag	p.E83Q		NM_007354.2	NP_031380.1	O15544	GR6_HUMAN	chromosome 3 open reading frame 27	83										large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		TCATCTCTCTCTCTCTCTCTC	0.602																																																	0													65.0	69.0	68.0					3																	128292326		2203	4300	6503	SO:0001583	missense	23434			AF008192	CCDS3050.1	3q21	2005-12-19			ENSG00000198685	ENSG00000198685			17099	protein-coding gene	gene with protein product						9307271	Standard	NR_125802		Approved	GR6	uc003ekq.3	O15544	OTTHUMG00000159688	ENST00000356020.2:c.247G>C	3.37:g.128292326C>G	ENSP00000348302:p.Glu83Gln			Missense_Mutation	SNP	NULL	p.E83Q	ENST00000356020.2	37	c.247	CCDS3050.1	3	.	.	.	.	.	.	.	.	.	.	C	9.903	1.207526	0.22205	.	.	ENSG00000198685	ENST00000356020	.	.	.	0.886	0.886	0.19194	.	.	.	.	.	T	0.25121	0.0610	N	0.08118	0	0.09310	N	1	P	0.42039	0.769	P	0.49332	0.607	T	0.13522	-1.0506	8	0.87932	D	0	.	5.1436	0.14973	0.0:1.0:0.0:0.0	.	83	O15544	GR6_HUMAN	Q	83	.	ENSP00000348302:E83Q	E	-	1	0	C3orf27	129775016	0.000000	0.05858	0.040000	0.18447	0.316000	0.28119	-0.210000	0.09345	0.757000	0.33036	0.306000	0.20318	GAG	C3orf27	-	NULL		0.602	C3orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf27	HGNC	protein_coding	OTTHUMT00000356924.1	C	NM_007354		128292326	-1	no_errors	ENST00000356020	ensembl	human	known	70_37	missense	SNP	0.047	G
C5orf42	65250	genome.wustl.edu	37	5	37121812	37121812	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:37121812G>A	ENST00000508244.1	-	47	9023	c.8930C>T	c.(8929-8931)tCa>tTa	p.S2977L	C5orf42_ENST00000274258.7_Missense_Mutation_p.S1875L|C5orf42_ENST00000512288.1_5'UTR|C5orf42_ENST00000425232.2_Missense_Mutation_p.S2977L			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2977						integral component of membrane (GO:0016021)		p.S2977L(1)|p.S1875L(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TAGCTGTACTGACTCAGATAA	0.448																																																	2	Substitution - Missense(2)	large_intestine(2)											310.0	272.0	285.0					5																	37121812		2203	4300	6503	SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.8930C>T	5.37:g.37121812G>A	ENSP00000421690:p.Ser2977Leu		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.S2977L	ENST00000508244.1	37	c.8930	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	G	37	6.171485	0.97343	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.28	5.28	0.74379	.	0.239166	0.29403	N	0.012243	T	0.71048	0.3294	M	0.72118	2.19	0.24876	N	0.992258	D;D	0.89917	0.996;1.0	P;D	0.83275	0.906;0.996	T	0.65500	-0.6153	10	0.87932	D	0	.	14.4287	0.67233	0.0:0.0:1.0:0.0	.	2977;1875	E9PH94;Q9H799	.;CE042_HUMAN	L	2977;2977;1875;2043	ENSP00000421690:S2977L;ENSP00000389014:S2977L;ENSP00000274258:S1875L;ENSP00000424223:S2043L	ENSP00000274258:S1875L	S	-	2	0	C5orf42	37157569	0.996000	0.38824	0.293000	0.24932	0.925000	0.55904	5.045000	0.64220	2.470000	0.83445	0.591000	0.81541	TCA	C5orf42	-	NULL		0.448	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	G	NM_023073		37121812	-1	no_errors	ENST00000425232	ensembl	human	known	70_37	missense	SNP	0.365	A
CFAP69	79846	genome.wustl.edu	37	7	89906410	89906410	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:89906410G>A	ENST00000389297.4	+	10	1259	c.1008G>A	c.(1006-1008)ttG>ttA	p.L336L	C7orf63_ENST00000497910.1_Silent_p.L318L|C7orf63_ENST00000316089.8_Silent_p.L336L	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		336										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CCAAGGATTTGATACTGTTTG	0.269																																																	0													54.0	47.0	49.0					7																	89906410		1782	4044	5826	SO:0001819	synonymous_variant	79846																														ENST00000389297.4:c.1008G>A	7.37:g.89906410G>A			A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Silent	SNP	superfamily_ARM-type_fold	p.L336	ENST00000389297.4	37	c.1008	CCDS43613.2	7																																																																																			C7orf63	-	NULL		0.269	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C7orf63	HGNC	protein_coding	OTTHUMT00000139891.4	G			89906410	+1	no_errors	ENST00000389297	ensembl	human	known	70_37	silent	SNP	1.000	A
C9orf50	375759	genome.wustl.edu	37	9	132375735	132375735	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr9:132375735G>A	ENST00000372478.4	-	5	1223	c.1022C>T	c.(1021-1023)tCg>tTg	p.S341L	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	341										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				GTCCCAACACGAGGAGCTGGC	0.657																																																	0													39.0	39.0	39.0					9																	132375735		2203	4300	6503	SO:0001583	missense	375759			AK093122	CCDS35159.1	9q34.2	2012-03-15			ENSG00000179058	ENSG00000179058			23677	protein-coding gene	gene with protein product							Standard	NM_199350		Approved	FLJ35803	uc004byc.4	Q5SZB4	OTTHUMG00000020786	ENST00000372478.4:c.1022C>T	9.37:g.132375735G>A	ENSP00000361556:p.Ser341Leu		Q2M1I2|Q8NA65	Missense_Mutation	SNP	NULL	p.S341L	ENST00000372478.4	37	c.1022	CCDS35159.1	9	.	.	.	.	.	.	.	.	.	.	G	6.686	0.495172	0.12762	.	.	ENSG00000179058	ENST00000372478	T	0.23348	1.91	3.02	-3.29	0.05017	.	.	.	.	.	T	0.12050	0.0293	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.24333	-1.0163	9	0.49607	T	0.09	0.0476	4.8908	0.13726	0.2478:0.3149:0.4373:0.0	.	341	Q5SZB4	CI050_HUMAN	L	341	ENSP00000361556:S341L	ENSP00000361556:S341L	S	-	2	0	C9orf50	131415556	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.175000	0.09825	-0.733000	0.04850	-1.573000	0.00871	TCG	C9orf50	-	NULL		0.657	C9orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf50	HGNC	protein_coding	OTTHUMT00000054593.1	G	NM_199350		132375735	-1	no_errors	ENST00000372478	ensembl	human	known	70_37	missense	SNP	0.000	A
CAD	790	genome.wustl.edu	37	2	27459176	27459176	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:27459176G>C	ENST00000403525.1	+	25	4054	c.3910G>C	c.(3910-3912)Gag>Cag	p.E1304Q	CAD_ENST00000264705.4_Missense_Mutation_p.E1367Q			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGCACTTTGAGGAGGCTGT	0.572																																																	0													54.0	52.0	53.0					2																	27459176		2203	4300	6503	SO:0001583	missense	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3910G>C	2.37:g.27459176G>C	ENSP00000384510:p.Glu1304Gln		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.E1367Q	ENST00000403525.1	37	c.4099		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.2|29.2	4.982320|4.982320	0.93044|0.93044	.|.	.|.	ENSG00000084774|ENSG00000084774	ENST00000264705;ENST00000403525|ENST00000458503	D;D|.	0.86865|.	-2.18;-2.18|.	5.03|5.03	5.03|5.03	0.67393|0.67393	Methylglyoxal synthase-like domain (4);|.	0.044847|.	0.85682|.	D|.	0.000000|.	T|T	0.66645|0.66645	0.2810|0.2810	L|L	0.43757|0.43757	1.38|1.38	0.80722|0.80722	D|D	1|1	D;D|.	0.63046|.	0.99;0.992|.	P;D|.	0.63283|.	0.843;0.913|.	T|T	0.63319|0.63319	-0.6664|-0.6664	10|5	0.23302|.	T|.	0.38|.	-0.4106|-0.4106	17.2725|17.2725	0.87106|0.87106	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1304;1367|.	F8VPD4;P27708|.	.;PYR1_HUMAN|.	Q|F	1367;1304|11	ENSP00000264705:E1367Q;ENSP00000384510:E1304Q|.	ENSP00000264705:E1367Q|.	E|L	+|+	1|3	0|2	CAD|CAD	27312680|27312680	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	8.927000|8.927000	0.92846|0.92846	2.483000|2.483000	0.83821|0.83821	0.561000|0.561000	0.74099|0.74099	GAG|TTG	CAD	-	pfam_MGS-like_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,tigrfam_CarbamoylP_synth_lsu		0.572	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	G			27459176	+1	no_errors	ENST00000264705	ensembl	human	known	70_37	missense	SNP	1.000	C
CASC3	22794	genome.wustl.edu	37	17	38324645	38324645	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:38324645C>G	ENST00000264645.7	+	11	2166	c.1940C>G	c.(1939-1941)cCg>cGg	p.P647R		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	647	Necessary for localization in cytoplasmic stress granules.|Poly-Pro.				gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CCCCCACCACCGCCTCATCTG	0.468											OREG0024392	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													87.0	79.0	82.0					17																	38324645		2203	4300	6503	SO:0001583	missense	22794			X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.1940C>G	17.37:g.38324645C>G	ENSP00000264645:p.Pro647Arg	877	A8K8R0	Missense_Mutation	SNP	pfam_Btz_dom	p.P647R	ENST00000264645.7	37	c.1940	CCDS11362.1	17	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673145	0.88445	.	.	ENSG00000108349	ENST00000264645;ENST00000394114	.	.	.	5.67	5.67	0.87782	.	0.266237	0.37809	N	0.001925	T	0.65974	0.2743	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70414	-0.4878	9	0.87932	D	0	-10.6085	19.3859	0.94556	0.0:1.0:0.0:0.0	.	647	O15234	CASC3_HUMAN	R	647	.	ENSP00000264645:P647R	P	+	2	0	CASC3	35578171	0.994000	0.37717	0.998000	0.56505	0.959000	0.62525	5.438000	0.66550	2.676000	0.91093	0.655000	0.94253	CCG	CASC3	-	NULL		0.468	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASC3	HGNC	protein_coding	OTTHUMT00000257127.3	C	NM_007359		38324645	+1	no_errors	ENST00000264645	ensembl	human	known	70_37	missense	SNP	1.000	G
CBL	867	genome.wustl.edu	37	11	119149358	119149358	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:119149358G>A	ENST00000264033.4	+	9	1742	c.1366G>A	c.(1366-1368)Gat>Aat	p.D456N		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	456	Asp/Glu-rich (acidic).				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CCCAAATTATGATGATGATGA	0.473			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																															"""Dom, Rec"""	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)											99.0	99.0	99.0					11																	119149358		2199	4295	6494	SO:0001583	missense	867	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1366G>A	11.37:g.119149358G>A	ENSP00000264033:p.Asp456Asn		A3KMP8	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.D456N	ENST00000264033.4	37	c.1366	CCDS8418.1	11	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060965	0.76074	.	.	ENSG00000110395	ENST00000264033	T	0.78924	-1.22	5.96	5.96	0.96718	.	0.199269	0.50627	D	0.000105	T	0.81394	0.4813	M	0.73962	2.25	0.80722	D	1	P	0.52577	0.954	B	0.44044	0.439	T	0.82764	-0.0296	10	0.52906	T	0.07	-36.5049	20.422	0.99049	0.0:0.0:1.0:0.0	.	456	P22681	CBL_HUMAN	N	456	ENSP00000264033:D456N	ENSP00000264033:D456N	D	+	1	0	CBL	118654568	1.000000	0.71417	0.961000	0.40146	0.947000	0.59692	9.434000	0.97515	2.832000	0.97577	0.655000	0.94253	GAT	CBL	-	NULL		0.473	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBL	HGNC	protein_coding	OTTHUMT00000388219.4	G	NM_005188		119149358	+1	no_errors	ENST00000264033	ensembl	human	known	70_37	missense	SNP	1.000	A
CCDC101	112869	genome.wustl.edu	37	16	28597034	28597034	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr16:28597034G>A	ENST00000317058.3	+	4	404	c.217G>A	c.(217-219)Gag>Aag	p.E73K		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	73					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|SAGA-type complex (GO:0070461)	methylated histone binding (GO:0035064)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						TGCAGAGGCTGAGTGCAAGTG	0.602																																																	0													119.0	88.0	98.0					16																	28597034		2197	4300	6497	SO:0001583	missense	112869			AK057008	CCDS10635.1	16p11.2	2010-08-03			ENSG00000176476	ENSG00000176476			25156	protein-coding gene	gene with protein product	"""SAGA-associated factor 29 homolog (yeast)"""	613374				17334388	Standard	NM_138414		Approved	FLJ32446, SGF29	uc002dqf.3	Q96ES7	OTTHUMG00000131763	ENST00000317058.3:c.217G>A	16.37:g.28597034G>A	ENSP00000316114:p.Glu73Lys		Q96MF5	Missense_Mutation	SNP	pfam_SGF29_tudor-like_dom	p.E73K	ENST00000317058.3	37	c.217	CCDS10635.1	16	.	.	.	.	.	.	.	.	.	.	G	29.2	4.984008	0.93044	.	.	ENSG00000176476	ENST00000317058	.	.	.	5.74	5.74	0.90152	.	0.059025	0.64402	D	0.000002	T	0.70325	0.3211	M	0.81112	2.525	0.80722	D	1	B	0.27498	0.18	B	0.24541	0.054	T	0.71034	-0.4709	9	0.72032	D	0.01	.	17.4153	0.87498	0.0:0.0:1.0:0.0	.	73	Q96ES7	SGF29_HUMAN	K	73	.	ENSP00000316114:E73K	E	+	1	0	CCDC101	28504535	1.000000	0.71417	0.971000	0.41717	0.634000	0.38068	8.187000	0.89708	2.716000	0.92895	0.563000	0.77884	GAG	CCDC101	-	NULL		0.602	CCDC101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC101	HGNC	protein_coding	OTTHUMT00000254691.1	G	NM_138414		28597034	+1	no_errors	ENST00000317058	ensembl	human	known	70_37	missense	SNP	0.999	A
CCDC142	84865	genome.wustl.edu	37	2	74708006	74708006	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:74708006G>C	ENST00000393965.3	-	5	1789	c.1393C>G	c.(1393-1395)Ctg>Gtg	p.L465V	TTC31_ENST00000410003.1_5'Flank|TTC31_ENST00000442235.2_5'Flank|CCDC142_ENST00000471713.1_5'UTR|TTC31_ENST00000233623.5_5'Flank|CCDC142_ENST00000290418.4_Missense_Mutation_p.L458V	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	465								p.L458L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						TCATGCAACAGAGGCTTTGGG	0.572																																																	1	Substitution - coding silent(1)	urinary_tract(1)											72.0	68.0	69.0					2																	74708006		2203	4300	6503	SO:0001583	missense	84865			AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.1393C>G	2.37:g.74708006G>C	ENSP00000377537:p.Leu465Val		B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	NULL	p.L465V	ENST00000393965.3	37	c.1393		2	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628104	0.28978	.	.	ENSG00000135637	ENST00000393965;ENST00000290418	T;T	0.55234	0.53;0.53	4.17	2.36	0.29203	.	0.000000	0.43260	D	0.000581	T	0.66228	0.2768	M	0.74881	2.28	0.27735	N	0.944684	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.994;0.996	T	0.57283	-0.7838	10	0.51188	T	0.08	-5.5154	6.5615	0.22489	0.2215:0.0:0.7785:0.0	.	465;458;465	Q17RM4;Q17RM4-2;Q17RM4-3	CC142_HUMAN;.;.	V	465;458	ENSP00000377537:L465V;ENSP00000290418:L458V	ENSP00000290418:L458V	L	-	1	2	CCDC142	74561514	1.000000	0.71417	0.272000	0.24630	0.467000	0.32768	1.337000	0.33862	0.416000	0.25844	0.561000	0.74099	CTG	CCDC142	-	NULL		0.572	CCDC142-003	KNOWN	basic	protein_coding	CCDC142	HGNC	protein_coding	OTTHUMT00000328391.1	G	NM_032779		74708006	-1	no_errors	ENST00000393965	ensembl	human	known	70_37	missense	SNP	0.645	C
CFAP45	25790	genome.wustl.edu	37	1	159869894	159869894	+	5'UTR	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:159869894C>T	ENST00000368099.4	-	0	59				hsa-mir-4259_ENST00000584466.1_RNA|CCDC19_ENST00000426543.2_5'Flank|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			ACCATCTCCTCAGCCACACGC	0.637																																																	0													66.0	57.0	60.0					1																	159869894		2203	4300	6503	SO:0001623	5_prime_UTR_variant	25790																														ENST00000368099.4:c.-6G>A	1.37:g.159869894C>T				RNA	SNP	-	NULL	ENST00000368099.4	37	NULL	CCDS30914.1	1																																																																																			CCDC19	-	-		0.637	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC19	HGNC	protein_coding	OTTHUMT00000085979.1	C			159869894	-1	no_errors	ENST00000476696	ensembl	human	known	70_37	rna	SNP	0.000	T
CCDC33	80125	genome.wustl.edu	37	15	74564043	74564043	+	Splice_Site	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:74564043G>A	ENST00000398814.3	+	6	977		c.e6-1		CCDC33_ENST00000321288.5_Splice_Site	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33											breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTCCTCTCCAGATCTTTCTCC	0.572																																																	0													34.0	37.0	36.0					15																	74564043		2017	4163	6180	SO:0001630	splice_region_variant	80125			BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.547-1G>A	15.37:g.74564043G>A			A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Splice_Site	SNP	-	e8-1	ENST00000398814.3	37	c.1156-1	CCDS42058.1	15	.	.	.	.	.	.	.	.	.	.	g	13.49	2.253173	0.39797	.	.	ENSG00000140481	ENST00000321288;ENST00000398814	.	.	.	4.48	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5203	0.56056	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC33	72351096	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	4.272000	0.58908	2.325000	0.78763	0.558000	0.71614	.	CCDC33	-	-		0.572	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC33	HGNC	protein_coding	OTTHUMT00000419491.2	G	NM_182791	Intron	74564043	+1	no_errors	ENST00000321288	ensembl	human	known	70_37	splice_site	SNP	1.000	A
CCDC88C	440193	genome.wustl.edu	37	14	91808753	91808753	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr14:91808753G>A	ENST00000389857.6	-	6	540	c.454C>T	c.(454-456)Cag>Tag	p.Q152*		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	152					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				ATGCCAGCCTGGGTCTCAATG	0.557																																																	0													93.0	91.0	91.0					14																	91808753		2124	4245	6369	SO:0001587	stop_gained	440193				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.454C>T	14.37:g.91808753G>A	ENSP00000374507:p.Gln152*		Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Nonsense_Mutation	SNP	pfam_HOOK,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C	p.Q152*	ENST00000389857.6	37	c.454	CCDS45151.1	14	.	.	.	.	.	.	.	.	.	.	G	33	5.234980	0.95207	.	.	ENSG00000015133	ENST00000389857;ENST00000541408	.	.	.	4.95	4.95	0.65309	.	0.000000	0.43579	U	0.000550	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-25.176	18.2078	0.89860	0.0:0.0:1.0:0.0	.	.	.	.	X	152;116	.	ENSP00000374507:Q152X	Q	-	1	0	CCDC88C	90878506	1.000000	0.71417	0.914000	0.36105	0.980000	0.70556	6.448000	0.73469	2.302000	0.77476	0.561000	0.74099	CAG	CCDC88C	-	pfam_HOOK		0.557	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88C	HGNC	protein_coding	OTTHUMT00000411650.1	G	XM_029353		91808753	-1	no_errors	ENST00000389857	ensembl	human	known	70_37	nonsense	SNP	1.000	A
CCDC97	90324	genome.wustl.edu	37	19	41825618	41825618	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:41825618G>A	ENST00000269967.3	+	3	764	c.642G>A	c.(640-642)ggG>ggA	p.G214G		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	214										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						GGTCCCCCGGGAGACCTGCTT	0.657																																																	0													41.0	48.0	46.0					19																	41825618		2203	4300	6503	SO:0001819	synonymous_variant	90324			BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.642G>A	19.37:g.41825618G>A			Q658N6|Q96IF3	Silent	SNP	pfam_DUF2052_coiled-coil	p.G214	ENST00000269967.3	37	c.642	CCDS12578.1	19																																																																																			CCDC97	-	pfam_DUF2052_coiled-coil		0.657	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC97	HGNC	protein_coding	OTTHUMT00000463293.1	G	NM_052848		41825618	+1	no_errors	ENST00000269967	ensembl	human	known	70_37	silent	SNP	0.119	A
CD177	57126	genome.wustl.edu	37	19	43858504	43858504	+	RNA	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:43858504C>T	ENST00000607517.1	+	0	395				CD177_ENST00000378009.4_RNA|CD177_ENST00000378012.2_RNA			Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				GCAACAACCTCGTTAACTCCC	0.672																																																	0													64.0	69.0	68.0					19																	43858504		1944	4122	6066			57126			AF146747	CCDS62700.1	19q13.31	2013-10-02	2006-03-28		ENSG00000204936	ENSG00000204936		"""CD molecules"""	30072	protein-coding gene	gene with protein product	"""polycythemia rubra vera 1"""	162860	"""CD177 antigen"""			10753836, 5552408	Standard	NM_020406		Approved	PRV1, HNA2A, NB1	uc002owi.3	Q8N6Q3	OTTHUMG00000185320		19.37:g.43858504C>T			Q711Q2|Q8NCV9|Q96QH1|Q9HDA5	Silent	SNP	pfam_LY6_UPAR	p.L113	ENST00000607517.1	37	c.339		19																																																																																			CD177	-	NULL		0.672	CD177-001	KNOWN	basic	polymorphic_pseudogene	CD177	HGNC	polymorphic_pseudogene	OTTHUMT00000470162.1	C	NM_020406		43858504	+1	no_errors	ENST00000378009	ensembl	human	known	70_37	silent	SNP	0.000	T
CD34	947	genome.wustl.edu	37	1	208063100	208063101	+	Intron	INS	-	-	A	rs546561927|rs3043874|rs5780411|rs397861623|rs397751524	byFrequency	TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:208063100_208063101insA	ENST00000310833.7	-	5	919				CD34_ENST00000367036.3_Frame_Shift_Ins_p.S28fs|CD34_ENST00000356522.4_Intron|CD34_ENST00000537704.1_Intron|CD34_ENST00000485761.1_Intron	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule						cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						AATTCCAACAGAAAAAAAAAAA	0.366																																																	0																																										SO:0001627	intron_variant	947			M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.598-134->T	1.37:g.208063111_208063111dupA			A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Frame_Shift_Ins	INS	pfam_CD34/Podocalyxin,prints_CD34	p.S28fs	ENST00000310833.7	37	c.83_82	CCDS31011.1	1																																																																																			CD34	-	NULL		0.366	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD34	HGNC	protein_coding	OTTHUMT00000088933.1	-	NM_001773		208063101	-1	no_errors	ENST00000367036	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	A
PSAP	5660	genome.wustl.edu	37	10	73574925	73574925	+	IGR	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:73574925G>A	ENST00000394936.3	-	0	2866				CDH23_ENST00000398788.3_Missense_Mutation_p.E1079K|CDH23_ENST00000224721.6_Missense_Mutation_p.E3324K|CDH23_ENST00000475158.1_3'UTR			P07602	SAP_HUMAN	prosaposin						blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						GACCGCTGCCGAGGCCACTGC	0.667																																																	0													19.0	26.0	23.0					10																	73574925		2160	4254	6414	SO:0001628	intergenic_variant	64072			BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"""Endogenous ligands"""	9498	protein-coding gene	gene with protein product	"""variant Gaucher disease and variant metachromatic leukodystrophy"""	176801	"""sphingolipid activator protein-1"""	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429		10.37:g.73574925G>A			P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E3322K	ENST00000394936.3	37	c.9964	CCDS7311.1	10	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005251	0.74932	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.77877	-1.13	5.14	5.14	0.70334	.	0.292577	0.32068	N	0.006639	T	0.78007	0.4216	N	0.08118	0	0.50813	D	0.999891	P;D;P;P	0.71674	0.683;0.998;0.509;0.509	B;D;B;B	0.73380	0.084;0.98;0.039;0.039	T	0.82936	-0.0210	10	0.54805	T	0.06	.	18.6266	0.91342	0.0:0.0:1.0:0.0	.	181;216;3284;3319	Q5QGS5;Q5QGS6;E9PEX1;Q9H251	.;.;.;CAD23_HUMAN	K	3324;3284;3322;1079	ENSP00000381768:E1079K	ENSP00000224721:E3324K	E	+	1	0	CDH23	73244931	1.000000	0.71417	0.512000	0.27736	0.631000	0.37964	6.100000	0.71473	2.412000	0.81896	0.655000	0.94253	GAG	CDH23	-	NULL		0.667	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000048553.1	G	NM_002778		73574925	+1	no_errors	ENST00000224721	ensembl	human	known	70_37	missense	SNP	0.994	A
CFH	3075	genome.wustl.edu	37	1	196711179	196711179	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:196711179G>C	ENST00000367429.4	+	19	3371	c.3131G>C	c.(3130-3132)aGa>aCa	p.R1044T		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1044	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CCAACATGCAGAGGTACTTTG	0.463																																																	0													82.0	75.0	77.0					1																	196711179		2203	4300	6503	SO:0001583	missense	3075			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3131G>C	1.37:g.196711179G>C	ENSP00000356399:p.Arg1044Thr		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R1044T	ENST00000367429.4	37	c.3131	CCDS1385.1	1	.	.	.	.	.	.	.	.	.	.	.	19.36	3.812055	0.70797	.	.	ENSG00000000971	ENST00000367429	T	0.73469	-0.75	5.86	-3.73	0.04398	Complement control module (2);Sushi/SCR/CCP (1);	.	.	.	.	T	0.54111	0.1838	L	0.38733	1.17	0.80722	D	1	B	0.26483	0.15	B	0.14578	0.011	T	0.27606	-1.0069	9	0.22706	T	0.39	.	6.0506	0.19783	0.5921:0.2409:0.167:0.0	.	1044	P08603	CFAH_HUMAN	T	1044	ENSP00000356399:R1044T	ENSP00000356399:R1044T	R	+	2	0	CFH	194977802	0.698000	0.27777	0.974000	0.42286	0.806000	0.45545	-0.430000	0.06973	-0.334000	0.08463	0.650000	0.86243	AGA	CFH	-	superfamily_Complement_control_module,pfscan_Sushi_SCR_CCP		0.463	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000086412.2	G	NM_000186		196711179	+1	no_errors	ENST00000367429	ensembl	human	known	70_37	missense	SNP	0.979	C
CENPF	1063	genome.wustl.edu	37	1	214818772	214818772	+	Silent	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:214818772C>G	ENST00000366955.3	+	13	6027	c.5859C>G	c.(5857-5859)ctC>ctG	p.L1953L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2049					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.L1953L(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAGAAGAACTCTCAGTGGTCA	0.398																																					Colon(80;575 1284 11000 14801 43496)												1	Substitution - coding silent(1)	lung(1)											66.0	70.0	69.0					1																	214818772		2203	4300	6503	SO:0001819	synonymous_variant	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.5859C>G	1.37:g.214818772C>G			Q13171|Q13246|Q5VVM7	Silent	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd	p.L1953	ENST00000366955.3	37	c.5859	CCDS31023.1	1																																																																																			CENPF	-	NULL		0.398	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1	C	NM_016343		214818772	+1	no_errors	ENST00000366955	ensembl	human	known	70_37	silent	SNP	0.150	G
CHD7	55636	genome.wustl.edu	37	8	61736429	61736429	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr8:61736429C>T	ENST00000423902.2	+	13	3711	c.3232C>T	c.(3232-3234)Cat>Tat	p.H1078Y	CHD7_ENST00000525508.1_Missense_Mutation_p.H1078Y|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1078	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTATAAGTTTCATGCCATCAT	0.368																																																	0													112.0	103.0	106.0					8																	61736429		1919	4158	6077	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.3232C>T	8.37:g.61736429C>T	ENSP00000392028:p.His1078Tyr		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.H1078Y	ENST00000423902.2	37	c.3232	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925070	0.92319	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	D;D	0.93712	-3.27;-3.27	5.73	5.73	0.89815	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.96531	0.8868	M	0.80982	2.52	0.80722	D	1	P;D	0.61697	0.886;0.99	B;P	0.61132	0.271;0.884	D	0.96288	0.9211	10	0.66056	D	0.02	-20.2901	20.2602	0.98440	0.0:1.0:0.0:0.0	.	1078;1078	Q9P2D1-2;Q9P2D1	.;CHD7_HUMAN	Y	1078	ENSP00000392028:H1078Y;ENSP00000436027:H1078Y	ENSP00000307304:H1078Y	H	+	1	0	CHD7	61898983	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.861000	0.98227	0.655000	0.94253	CAT	CHD7	-	pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.368	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	C	XM_098762		61736429	+1	no_errors	ENST00000307121	ensembl	human	known	70_37	missense	SNP	1.000	T
CHIA	27159	genome.wustl.edu	37	1	111861126	111861126	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:111861126G>A	ENST00000369740.1	+	9	844	c.741G>A	c.(739-741)atG>atA	p.M247I	RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000353665.6_Missense_Mutation_p.M86I|CHIA_ENST00000343320.6_Missense_Mutation_p.M247I|CHIA_ENST00000451398.2_Missense_Mutation_p.M86I|CHIA_ENST00000483391.1_Missense_Mutation_p.M86I|CHIA_ENST00000430615.1_Missense_Mutation_p.M139I	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	247					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		ATTATGTCATGAACTACTGGA	0.473																																																	0													101.0	90.0	93.0					1																	111861126		2203	4300	6503	SO:0001583	missense	27159			AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.741G>A	1.37:g.111861126G>A	ENSP00000358755:p.Met247Ile		Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom	p.M247I	ENST00000369740.1	37	c.741	CCDS41368.1	1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380053	0.42207	.	.	ENSG00000134216	ENST00000422815;ENST00000483391;ENST00000369740;ENST00000343320;ENST00000451398;ENST00000353665;ENST00000489524;ENST00000430615	T;T;T;T;T;T;T;T	0.04809	3.55;3.55;3.55;3.55;3.55;3.55;3.55;3.55	4.57	4.57	0.56435	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.64402	U	0.000001	T	0.01695	0.0054	N	0.13043	0.29	0.41028	D	0.985132	B	0.16603	0.018	B	0.28305	0.088	T	0.53173	-0.8476	10	0.25751	T	0.34	-17.6598	15.2301	0.73381	0.0:0.0:1.0:0.0	.	247	Q9BZP6	CHIA_HUMAN	I	191;86;247;247;86;86;86;139	ENSP00000387671:M191I;ENSP00000436946:M86I;ENSP00000358755:M247I;ENSP00000341828:M247I;ENSP00000390476:M86I;ENSP00000338970:M86I;ENSP00000433309:M86I;ENSP00000391132:M139I	ENSP00000341828:M247I	M	+	3	0	CHIA	111662649	1.000000	0.71417	0.998000	0.56505	0.911000	0.54048	6.845000	0.75394	2.245000	0.73994	0.563000	0.77884	ATG	CHIA	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II		0.473	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHIA	HGNC	protein_coding	OTTHUMT00000030710.1	G			111861126	+1	no_errors	ENST00000343320	ensembl	human	known	70_37	missense	SNP	1.000	A
CHST12	55501	genome.wustl.edu	37	7	2472514	2472514	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:2472514G>C	ENST00000258711.6	+	2	375	c.240G>C	c.(238-240)caG>caC	p.Q80H		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	80					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GCGTGAAGCAGAGCGACCTTC	0.687																																																	0													36.0	43.0	41.0					7																	2472514		2203	4300	6503	SO:0001583	missense	55501			AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.240G>C	7.37:g.2472514G>C	ENSP00000258711:p.Gln80His		A4D1Z9|Q502W3|Q9NXY7	Missense_Mutation	SNP	pfam_Sulfotransferase	p.Q80H	ENST00000258711.6	37	c.240	CCDS5333.1	7	.	.	.	.	.	.	.	.	.	.	G	0.276	-0.989648	0.02162	.	.	ENSG00000136213	ENST00000258711;ENST00000432336	T;T	0.61980	0.06;0.9	4.76	-0.587	0.11690	.	2.669440	0.01381	N	0.012928	T	0.44329	0.1288	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13710	-1.0499	10	0.37606	T	0.19	-12.5458	0.752	0.00992	0.2288:0.1395:0.3621:0.2696	.	80	Q9NRB3	CHSTC_HUMAN	H	80	ENSP00000258711:Q80H;ENSP00000411207:Q80H	ENSP00000258711:Q80H	Q	+	3	2	CHST12	2439040	0.010000	0.17322	0.000000	0.03702	0.008000	0.06430	0.646000	0.24797	-0.183000	0.10585	-0.310000	0.09108	CAG	CHST12	-	NULL		0.687	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST12	HGNC	protein_coding	OTTHUMT00000060170.3	G	NM_018641		2472514	+1	no_errors	ENST00000258711	ensembl	human	known	70_37	missense	SNP	0.000	C
CHST12	55501	genome.wustl.edu	37	7	2473301	2473301	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:2473301G>A	ENST00000258711.6	+	2	1162	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	343					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GGGGAAGCTGGAGACTCTGGA	0.677																																																	0													44.0	45.0	45.0					7																	2473301		2203	4300	6503	SO:0001583	missense	55501			AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.1027G>A	7.37:g.2473301G>A	ENSP00000258711:p.Glu343Lys		A4D1Z9|Q502W3|Q9NXY7	Missense_Mutation	SNP	pfam_Sulfotransferase	p.E343K	ENST00000258711.6	37	c.1027	CCDS5333.1	7	.	.	.	.	.	.	.	.	.	.	G	32	5.107379	0.94292	.	.	ENSG00000136213	ENST00000258711	T	0.50548	0.74	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.77778	0.4181	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84226	0.0464	10	0.72032	D	0.01	-9.4085	18.6277	0.91347	0.0:0.0:1.0:0.0	.	343	Q9NRB3	CHSTC_HUMAN	K	343	ENSP00000258711:E343K	ENSP00000258711:E343K	E	+	1	0	CHST12	2439827	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.575000	0.98187	2.417000	0.82017	0.561000	0.74099	GAG	CHST12	-	pfam_Sulfotransferase		0.677	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST12	HGNC	protein_coding	OTTHUMT00000060170.3	G	NM_018641		2473301	+1	no_errors	ENST00000258711	ensembl	human	known	70_37	missense	SNP	1.000	A
CIC	23152	genome.wustl.edu	37	19	42795860	42795860	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:42795860C>T	ENST00000575354.2	+	11	2889	c.2849C>T	c.(2848-2850)tCa>tTa	p.S950L	CIC_ENST00000572681.2_Missense_Mutation_p.S1859L|CIC_ENST00000160740.3_Missense_Mutation_p.S950L	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	950	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCGCCCTTCTCAGTACCTGTG	0.637			"""Mis, F, S"""		oligodendroglioma																																			Rec	yes		19	19q13.2	23152	capicua homolog		O	0													43.0	49.0	47.0					19																	42795860		2089	4145	6234	SO:0001583	missense	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2849C>T	19.37:g.42795860C>T	ENSP00000458663:p.Ser950Leu		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.S950L	ENST00000575354.2	37	c.2849	CCDS12601.1	19	.	.	.	.	.	.	.	.	.	.	C	14.00	2.406332	0.42715	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	T	0.22820	0.0551	N	0.08118	0	0.31130	N	0.707827	P	0.47409	0.895	B	0.41332	0.354	T	0.18147	-1.0346	8	0.87932	D	0	-11.3096	14.3509	0.66702	0.0:1.0:0.0:0.0	.	950	Q96RK0	CIC_HUMAN	L	950	.	ENSP00000160740:S950L	S	+	2	0	CIC	47487700	0.993000	0.37304	1.000000	0.80357	0.904000	0.53231	4.445000	0.60007	2.247000	0.74100	0.462000	0.41574	TCA	CIC	-	NULL		0.637	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2	C			42795860	+1	no_errors	ENST00000160740	ensembl	human	known	70_37	missense	SNP	1.000	T
CIZ1	25792	genome.wustl.edu	37	9	130928414	130928414	+	3'UTR	SNP	G	G	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr9:130928414G>T	ENST00000393608.1	-	0	2961				CIZ1_ENST00000372938.5_3'UTR|CIZ1_ENST00000476727.2_5'Flank|CIZ1_ENST00000372954.1_3'UTR|CIZ1_ENST00000372948.3_3'UTR|CIZ1_ENST00000541172.1_3'UTR|CIZ1_ENST00000325721.8_3'UTR|CIZ1_ENST00000357558.5_3'UTR|CIZ1_ENST00000277465.4_3'UTR|CIZ1_ENST00000538431.1_3'UTR	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1						maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						TTTCCAGGCAGACTCCTAAAA	0.507																																																	0																																										SO:0001624	3_prime_UTR_variant	25792			AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.*62C>A	9.37:g.130928414G>T			A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	RNA	SNP	-	NULL	ENST00000393608.1	37	NULL	CCDS6894.1	9																																																																																			CIZ1	-	-		0.507	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIZ1	HGNC	protein_coding	OTTHUMT00000054399.1	G	NM_012127		130928414	-1	no_errors	ENST00000461765	ensembl	human	known	70_37	rna	SNP	0.000	T
CLSTN2	64084	genome.wustl.edu	37	3	140167531	140167531	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:140167531C>G	ENST00000458420.3	+	6	1148	c.958C>G	c.(958-960)Ctt>Gtt	p.L320V	RP11-68L1.2_ENST00000509191.1_RNA|RP11-68L1.2_ENST00000502712.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	320					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TGAGAAATCCCTTCAAAAGTT	0.413										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)												0													102.0	106.0	105.0					3																	140167531		2203	4300	6503	SO:0001583	missense	64084			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.958C>G	3.37:g.140167531C>G	ENSP00000402460:p.Leu320Val		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L320V	ENST00000458420.3	37	c.958	CCDS3112.1	3	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925030	0.73213	.	.	ENSG00000158258	ENST00000458420	T	0.60672	0.17	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000001	T	0.71013	0.3290	M	0.66939	2.045	0.58432	D	0.999998	D	0.67145	0.996	P	0.61070	0.883	T	0.70949	-0.4733	10	0.40728	T	0.16	-0.1129	16.2424	0.82423	0.0:1.0:0.0:0.0	.	320	Q9H4D0	CSTN2_HUMAN	V	320	ENSP00000402460:L320V	ENSP00000402460:L320V	L	+	1	0	CLSTN2	141650221	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.873000	0.63057	2.425000	0.82216	0.561000	0.74099	CTT	CLSTN2	-	NULL		0.413	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	HGNC	protein_coding	OTTHUMT00000359393.3	C	NM_022131		140167531	+1	no_errors	ENST00000458420	ensembl	human	known	70_37	missense	SNP	1.000	G
CNDP1	84735	genome.wustl.edu	37	18	72250867	72250867	+	Silent	SNP	C	C	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr18:72250867C>A	ENST00000358821.3	+	11	1608	c.1380C>A	c.(1378-1380)atC>atA	p.I460I	CNDP1_ENST00000582365.1_Silent_p.I417I	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	460						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TCCAGGAGATCGTCCACAAGA	0.463																																					Melanoma(32;1029 1042 25286 38395 44237)												0													177.0	145.0	156.0					18																	72250867		2203	4300	6503	SO:0001819	synonymous_variant	84735				CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.1380C>A	18.37:g.72250867C>A			Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Silent	SNP	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1	p.I460	ENST00000358821.3	37	c.1380	CCDS12007.1	18																																																																																			CNDP1	-	pfam_Peptidase_M20,pirsf_GSH_degradosome_DUG1		0.463	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNDP1	HGNC	protein_coding	OTTHUMT00000256326.1	C	NM_032649		72250867	+1	no_errors	ENST00000358821	ensembl	human	known	70_37	silent	SNP	0.000	A
CNIH4	29097	genome.wustl.edu	37	1	224563512	224563512	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:224563512G>C	ENST00000465271.1	+	5	483	c.408G>C	c.(406-408)ttG>ttC	p.L136F	CNIH4_ENST00000366858.3_Intron|CNIH4_ENST00000366856.3_Intron|CNIH4_ENST00000366857.5_Missense_Mutation_p.L89F|CNIH4_ENST00000468318.1_3'UTR	NM_014184.3	NP_054903.1	Q9P003	CNIH4_HUMAN	cornichon family AMPA receptor auxiliary protein 4	136					intracellular signal transduction (GO:0035556)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(3)|lung(2)|ovary(2)	7				GBM - Glioblastoma multiforme(131;0.00341)		TCTTAGCTTTGATAAATGACT	0.438																																																	0													107.0	93.0	98.0					1																	224563512		2203	4300	6503	SO:0001583	missense	29097				CCDS1543.1, CCDS60429.1, CCDS60430.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143771	ENSG00000143771			25013	protein-coding gene	gene with protein product			"""cornichon homolog 4 (Drosophila)"""			11042152	Standard	NM_014184		Approved	HSPC163	uc001hom.2	Q9P003	OTTHUMG00000037635	ENST00000465271.1:c.408G>C	1.37:g.224563512G>C	ENSP00000420443:p.Leu136Phe		A8K1Q8|B2R553|Q9H0X8	Missense_Mutation	SNP	pfam_Cornichon	p.L136F	ENST00000465271.1	37	c.408	CCDS1543.1	1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839958	0.71488	.	.	ENSG00000143771	ENST00000465271;ENST00000366857	T;T	0.58797	0.31;0.7	5.43	4.52	0.55395	.	0.000000	0.64402	D	0.000001	T	0.77552	0.4147	M	0.88512	2.96	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.80614	-0.1304	10	0.87932	D	0	-33.6714	10.1591	0.42840	0.1511:0.0:0.8489:0.0	.	136	Q9P003	CNIH4_HUMAN	F	136;89	ENSP00000420443:L136F;ENSP00000355822:L89F	ENSP00000355822:L89F	L	+	3	2	CNIH4	222630135	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.942000	0.49018	1.287000	0.44583	0.557000	0.71058	TTG	CNIH4	-	NULL		0.438	CNIH4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNIH4	HGNC	protein_coding	OTTHUMT00000091754.1	G	NM_014184		224563512	+1	no_errors	ENST00000465271	ensembl	human	known	70_37	missense	SNP	1.000	C
CNTNAP2	26047	genome.wustl.edu	37	7	146805344	146805344	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:146805344C>T	ENST00000361727.3	+	5	1172	c.656C>T	c.(655-657)tCt>tTt	p.S219F		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	219	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTTAAGACGTCTGAAAGTGAA	0.388										HNSCC(39;0.1)																																							0													132.0	121.0	125.0					7																	146805344		2203	4300	6503	SO:0001583	missense	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.656C>T	7.37:g.146805344C>T	ENSP00000354778:p.Ser219Phe		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.S219F	ENST00000361727.3	37	c.656	CCDS5889.1	7	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698886	0.30142	.	.	ENSG00000174469	ENST00000361727	T	0.78481	-1.18	6.03	6.03	0.97812	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.095948	0.42682	D	0.000667	T	0.71451	0.3341	L	0.41710	1.295	0.80722	D	1	B	0.18863	0.031	B	0.24848	0.056	T	0.65125	-0.6244	10	0.09590	T	0.72	.	19.1533	0.93499	0.0:1.0:0.0:0.0	.	219	Q9UHC6	CNTP2_HUMAN	F	219	ENSP00000354778:S219F	ENSP00000354778:S219F	S	+	2	0	CNTNAP2	146436277	0.985000	0.35326	0.192000	0.23308	0.403000	0.30841	5.635000	0.67841	2.868000	0.98415	0.557000	0.71058	TCT	CNTNAP2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.388	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	C			146805344	+1	no_errors	ENST00000361727	ensembl	human	known	70_37	missense	SNP	0.991	T
CNTRL	11064	genome.wustl.edu	37	9	123914931	123914931	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr9:123914931G>C	ENST00000373855.1	+	26	4392	c.4132G>C	c.(4132-4134)Gaa>Caa	p.E1378Q	CNTRL_ENST00000373850.1_Missense_Mutation_p.E826Q|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Missense_Mutation_p.E1378Q|CNTRL_ENST00000373847.1_Missense_Mutation_p.E826Q			Q7Z7A1	CNTRL_HUMAN	centriolin	1378					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GTGTGAAGTAGAAGAATTACA	0.338																																																	0													85.0	89.0	88.0					9																	123914931		2203	4300	6503	SO:0001583	missense	11064			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.4132G>C	9.37:g.123914931G>C	ENSP00000362962:p.Glu1378Gln		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.E1378Q	ENST00000373855.1	37	c.4132	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159518	0.78226	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000373850;ENST00000373847;ENST00000431571;ENST00000373845	T;T;T;T;T	0.78246	2.54;2.54;2.54;2.54;-1.16	5.67	5.67	0.87782	.	.	.	.	.	T	0.79446	0.4447	L	0.60455	1.87	0.38381	D	0.945139	D	0.53151	0.958	P	0.47827	0.558	T	0.76982	-0.2757	9	0.22109	T	0.4	.	19.1299	0.93400	0.0:0.0:1.0:0.0	.	1378	Q7Z7A1	CNTRL_HUMAN	Q	1378;1378;1378;134;826;826;47;47	ENSP00000362962:E1378Q;ENSP00000238341:E1378Q;ENSP00000362956:E826Q;ENSP00000362953:E826Q;ENSP00000413014:E47Q	ENSP00000238341:E1378Q	E	+	1	0	CNTRL	122954752	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	2.955000	0.49121	2.836000	0.97738	0.655000	0.94253	GAA	CNTRL	-	NULL		0.338	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	G	NM_007018		123914931	+1	no_errors	ENST00000238341	ensembl	human	known	70_37	missense	SNP	1.000	C
COL1A1	1277	genome.wustl.edu	37	17	48264089	48264089	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:48264089G>A	ENST00000225964.5	-	48	3844	c.3726C>T	c.(3724-3726)atC>atT	p.I1242I		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1242	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GGATGTTCTCGATCTGCTGGC	0.627			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																																	Dom	yes		17	17q21.31-q22	1277	"""collagen, type I, alpha 1"""	yes	M	0													123.0	125.0	125.0					17																	48264089		2203	4300	6503	SO:0001819	synonymous_variant	1277			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.3726C>T	17.37:g.48264089G>A			O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.I1242	ENST00000225964.5	37	c.3726	CCDS11561.1	17																																																																																			COL1A1	-	smart_Fib_collagen_C		0.627	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A1	HGNC	protein_coding	OTTHUMT00000309036.2	G			48264089	-1	no_errors	ENST00000225964	ensembl	human	known	70_37	silent	SNP	0.985	A
COL21A1	81578	genome.wustl.edu	37	6	56047395	56047395	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:56047395G>C	ENST00000244728.5	-	2	419	c.22C>G	c.(22-24)Ctc>Gtc	p.L8V	COL21A1_ENST00000535941.1_Missense_Mutation_p.L8V|COL21A1_ENST00000370819.1_Missense_Mutation_p.L8V	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	8					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ACCATGCAGAGAAATGTAATA	0.338																																																	0													104.0	106.0	105.0					6																	56047395		1835	4094	5929	SO:0001583	missense	81578			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.22C>G	6.37:g.56047395G>C	ENSP00000244728:p.Leu8Val		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.L8V	ENST00000244728.5	37	c.22	CCDS55025.1	6	.	.	.	.	.	.	.	.	.	.	G	0.035	-1.310996	0.01342	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811;ENST00000370817	D;D;D;T	0.90133	-2.62;-2.55;-2.61;-0.42	4.03	-0.305	0.12784	.	0.462307	0.17697	N	0.165078	T	0.68979	0.3060	N	0.24115	0.695	0.09310	N	1	B;B	0.28971	0.229;0.147	B;B	0.30572	0.117;0.055	T	0.63475	-0.6629	10	0.66056	D	0.02	.	5.8882	0.18894	0.2434:0.4117:0.3449:0.0	.	8;8	Q96P44-3;Q96P44	.;COLA1_HUMAN	V	8	ENSP00000244728:L8V;ENSP00000359855:L8V;ENSP00000444384:L8V;ENSP00000359853:L8V	ENSP00000244728:L8V	L	-	1	0	COL21A1	56155354	0.920000	0.31207	0.084000	0.20598	0.003000	0.03518	-0.099000	0.11007	0.019000	0.15079	-0.150000	0.13652	CTC	COL21A1	-	NULL		0.338	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	COL21A1	HGNC	protein_coding	OTTHUMT00000041004.2	G			56047395	-1	no_errors	ENST00000244728	ensembl	human	known	70_37	missense	SNP	0.005	C
COL6A6	131873	genome.wustl.edu	37	3	130300620	130300620	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:130300620G>C	ENST00000358511.6	+	8	3794	c.3763G>C	c.(3763-3765)Gag>Cag	p.E1255Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.E1255Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1255	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCCCAAGTTTGAGATCTACAG	0.423																																																	0													122.0	119.0	120.0					3																	130300620		1922	4116	6038	SO:0001583	missense	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3763G>C	3.37:g.130300620G>C	ENSP00000351310:p.Glu1255Gln		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.E1255Q	ENST00000358511.6	37	c.3763	CCDS46911.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.07|14.07	2.425842|2.425842	0.43020|0.43020	.|.	.|.	ENSG00000206384|ENSG00000206384	ENST00000358511;ENST00000453409|ENST00000511332	T;T|.	0.37235|.	1.21;1.21|.	6.06|6.06	5.14|5.14	0.70334|0.70334	von Willebrand factor, type A (2);|.	.|.	.|.	.|.	.|.	T|T	0.49695|0.49695	0.1572|0.1572	L|L	0.39633|0.39633	1.23|1.23	0.34059|0.34059	D|D	0.657028|0.657028	P|.	0.38535|.	0.635|.	B|.	0.31495|.	0.131|.	T|T	0.57177|0.57177	-0.7856|-0.7856	9|5	0.17369|.	T|.	0.5|.	.|.	9.2765|9.2765	0.37703|0.37703	0.0764:0.1474:0.7762:0.0|0.0764:0.1474:0.7762:0.0	.|.	1255|.	A6NMZ7|.	CO6A6_HUMAN|.	Q|F	1255|12	ENSP00000351310:E1255Q;ENSP00000399236:E1255Q|.	ENSP00000351310:E1255Q|.	E|L	+|+	1|3	0|2	COL6A6|COL6A6	131783310|131783310	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	0.800000|0.800000	0.27042|0.27042	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GAG|TTG	COL6A6	-	smart_VWF_A,pfscan_VWF_A		0.423	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5	G	NM_001102608		130300620	+1	no_errors	ENST00000358511	ensembl	human	known	70_37	missense	SNP	1.000	C
COMP	1311	genome.wustl.edu	37	19	18898414	18898414	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:18898414C>T	ENST00000222271.2	-	10	1065	c.1021G>A	c.(1021-1023)Gag>Aag	p.E341K	COMP_ENST00000425807.1_Missense_Mutation_p.E288K|COMP_ENST00000542601.2_Missense_Mutation_p.E308K	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	341			Missing (in PSACH). {ECO:0000269|PubMed:21922596}.		apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CACTTGTCCTCGTCCGTGTTG	0.622																																																	0													162.0	135.0	144.0					19																	18898414		2203	4300	6503	SO:0001583	missense	1311			L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"""thrombospondin-5"""	600310	"""cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"""	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.1021G>A	19.37:g.18898414C>T	ENSP00000222271:p.Glu341Lys		B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.E341K	ENST00000222271.2	37	c.1021	CCDS12385.1	19	.	.	.	.	.	.	.	.	.	.	C	1.489	-0.555189	0.03967	.	.	ENSG00000105664	ENST00000542601;ENST00000222271;ENST00000425807;ENST00000454701	D;D;D	0.97455	-4.39;-4.39;-4.39	3.33	-0.454	0.12197	.	0.536155	0.17709	U	0.164651	D	0.85004	0.5598	N	0.01624	-0.795	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.77778	-0.2460	10	0.02654	T	1	-6.9392	7.8567	0.29487	0.0:0.3027:0.0:0.6973	.	288;341	B4DKJ3;P49747	.;COMP_HUMAN	K	308;341;288;328	ENSP00000439156:E308K;ENSP00000222271:E341K;ENSP00000403792:E288K	ENSP00000222271:E341K	E	-	1	0	COMP	18759414	0.017000	0.18338	0.048000	0.18961	0.874000	0.50279	0.071000	0.14594	-0.150000	0.11195	0.313000	0.20887	GAG	COMP	-	pfam_Thrombospondin_3-like_rpt		0.622	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMP	HGNC	protein_coding	OTTHUMT00000403457.1	C	NM_000095		18898414	-1	no_errors	ENST00000222271	ensembl	human	known	70_37	missense	SNP	0.084	T
CPS1	1373	genome.wustl.edu	37	2	211421548	211421548	+	Missense_Mutation	SNP	T	T	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:211421548T>A	ENST00000233072.5	+	1	287	c.91T>A	c.(91-93)Ttt>Att	p.F31I	CPS1_ENST00000430249.2_Missense_Mutation_p.F37I	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	31					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	AAAATGGAAATTTTCAAGACC	0.393																																																	0													106.0	106.0	106.0					2																	211421548		2203	4299	6502	SO:0001583	missense	1373			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.91T>A	2.37:g.211421548T>A	ENSP00000233072:p.Phe31Ile		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE_1,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu	p.F37I	ENST00000233072.5	37	c.109	CCDS2393.1	2	.	.	.	.	.	.	.	.	.	.	T	14.75	2.629822	0.46944	.	.	ENSG00000021826	ENST00000417946;ENST00000518043;ENST00000523702;ENST00000430249;ENST00000539150;ENST00000233072;ENST00000544169;ENST00000536125	D;D;D;D;D	0.97688	-3.22;-3.22;-3.38;-4.48;-4.49	5.78	1.8	0.24995	.	0.660297	0.16392	N	0.216417	D	0.92116	0.7501	N	0.19112	0.55	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	D	0.84713	0.0735	10	0.32370	T	0.25	-18.9857	3.9382	0.09314	0.1219:0.0783:0.141:0.6588	.	41;31	Q59HF8;P31327	.;CPSM_HUMAN	I	31;31;37;37;39;31;31;31	ENSP00000388496:F31I;ENSP00000430697:F31I;ENSP00000430644:F37I;ENSP00000402608:F37I;ENSP00000233072:F31I	ENSP00000233072:F31I	F	+	1	0	CPS1	211129793	0.039000	0.19947	0.964000	0.40570	0.969000	0.65631	0.110000	0.15437	0.437000	0.26423	0.533000	0.62120	TTT	CPS1	-	NULL		0.393	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPS1	HGNC	protein_coding	OTTHUMT00000256569.5	T			211421548	+1	no_errors	ENST00000430249	ensembl	human	known	70_37	missense	SNP	0.902	A
CREBBP	1387	genome.wustl.edu	37	16	3788618	3788618	+	Missense_Mutation	SNP	G	G	A	rs398124146		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr16:3788618G>A	ENST00000262367.5	-	26	5145	c.4336C>T	c.(4336-4338)Cgc>Tgc	p.R1446C	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1408C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1446	Acetyl-CoA binding. {ECO:0000250|UniProtKB:Q09472}.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R1446C(6)|p.R1446G(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACGGCTGTGCGGAGGCAACGT	0.413			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	7	Substitution - Missense(7)	haematopoietic_and_lymphoid_tissue(4)|urinary_tract(1)|lung(1)|central_nervous_system(1)											75.0	68.0	71.0					16																	3788618		2197	4300	6497	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4336C>T	16.37:g.3788618G>A	ENSP00000262367:p.Arg1446Cys		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.R1446C	ENST00000262367.5	37	c.4336	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	g	17.20	3.329498	0.60743	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.94330	-3.4;-3.4	5.28	4.29	0.51040	.	0.000000	0.64402	D	0.000004	D	0.97739	0.9258	H	0.96080	3.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98988	1.0807	10	0.87932	D	0	-29.6499	15.2916	0.73870	0.0:0.0:0.8588:0.1412	.	1476;1446	Q4LE28;Q92793	.;CBP_HUMAN	C	1446;1476;1408;35	ENSP00000262367:R1446C;ENSP00000371502:R1408C	ENSP00000262367:R1446C	R	-	1	0	CREBBP	3728619	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.937000	0.63513	1.303000	0.44873	0.561000	0.74099	CGC	CREBBP	-	pfam_Histone_H3-K56_AcTrfase_RTT109		0.413	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	G	NM_004380		3788618	-1	no_errors	ENST00000262367	ensembl	human	known	70_37	missense	SNP	1.000	A
CRISPLD1	83690	genome.wustl.edu	37	8	75898286	75898286	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr8:75898286C>T	ENST00000262207.4	+	2	532	c.64C>T	c.(64-66)Cca>Tca	p.P22S	CRISPLD1_ENST00000519798.1_3'UTR	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	22					face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TAGAGCAATTCCAGCCATGGT	0.473																																																	0													113.0	118.0	116.0					8																	75898286		2203	4300	6503	SO:0001583	missense	83690			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.64C>T	8.37:g.75898286C>T	ENSP00000262207:p.Pro22Ser		B2RA60|B7Z929	Missense_Mutation	SNP	pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1	p.P22S	ENST00000262207.4	37	c.64	CCDS6219.1	8	.	.	.	.	.	.	.	.	.	.	C	5.640	0.302781	0.10678	.	.	ENSG00000121005	ENST00000262207;ENST00000520277	T;T	0.56776	0.44;2.09	5.37	4.49	0.54785	CAP domain (1);	0.320136	0.35677	N	0.003041	T	0.26231	0.0640	N	0.10874	0.06	0.43814	D	0.996376	B	0.02656	0.0	B	0.01281	0.0	T	0.09357	-1.0678	10	0.13853	T	0.58	.	4.3771	0.11275	0.0:0.5965:0.1854:0.218	.	22	Q9H336	CRLD1_HUMAN	S	22	ENSP00000262207:P22S;ENSP00000430504:P22S	ENSP00000262207:P22S	P	+	1	0	CRISPLD1	76060841	0.790000	0.28787	0.991000	0.47740	0.991000	0.79684	0.720000	0.25896	1.492000	0.48499	0.563000	0.77884	CCA	CRISPLD1	-	superfamily_CAP_domain		0.473	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISPLD1	HGNC	protein_coding	OTTHUMT00000379117.1	C	NM_031461		75898286	+1	no_errors	ENST00000262207	ensembl	human	known	70_37	missense	SNP	0.504	T
CTC1	80169	genome.wustl.edu	37	17	8146353	8146353	+	Silent	SNP	G	G	T	rs201492796		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:8146353G>T	ENST00000315684.8	-	2	154	c.147C>A	c.(145-147)gtC>gtA	p.V49V	CTC1_ENST00000581671.1_Intron	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	49					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GGGACAACCAGACAGTCTTCA	0.522																																																	0													57.0	54.0	55.0					17																	8146353		1951	4139	6090	SO:0001819	synonymous_variant	80169			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.147C>A	17.37:g.8146353G>T			B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Silent	SNP	NULL	p.V49	ENST00000315684.8	37	c.147	CCDS42259.1	17																																																																																			CTC1	-	NULL		0.522	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTC1	HGNC	protein_coding	OTTHUMT00000442012.1	G	NM_025099		8146353	-1	no_errors	ENST00000315684	ensembl	human	known	70_37	silent	SNP	0.062	T
CTSO	1519	genome.wustl.edu	37	4	156850736	156850736	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr4:156850736C>T	ENST00000433477.3	-	6	865	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K		NM_001334.2	NP_001325.1	P43235	CATK_HUMAN	cathepsin O	273					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		TGATTTGCTTCTCCACTAGAG	0.433																																					Pancreas(148;2303 2598 8989 35298)												0													137.0	122.0	127.0					4																	156850736		2203	4300	6503	SO:0001583	missense	1519			X77383	CCDS3794.1	4q32.1	2012-10-03			ENSG00000256043	ENSG00000256043		"""Cathepsins"""	2542	protein-coding gene	gene with protein product		600550		CTSO1		9790772	Standard	NM_001334		Approved		uc003ipg.3	P43234	OTTHUMG00000161942	ENST00000433477.3:c.796G>A	4.37:g.156850736C>T	ENSP00000414904:p.Glu266Lys		Q6FHS6	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.E266K	ENST00000433477.3	37	c.796	CCDS3794.1	4	.	.	.	.	.	.	.	.	.	.	C	11.55	1.673547	0.29693	.	.	ENSG00000256043	ENST00000433477	D	0.87334	-2.24	5.53	5.53	0.82687	Peptidase C1A, papain C-terminal (2);	0.343781	0.33875	N	0.004461	T	0.71316	0.3325	N	0.03238	-0.38	0.28936	N	0.89127	B	0.12013	0.005	B	0.18263	0.021	T	0.58792	-0.7574	10	0.15066	T	0.55	.	13.1955	0.59736	0.0:0.9169:0.0:0.083	.	266	P43234	CATO_HUMAN	K	266	ENSP00000414904:E266K	ENSP00000281527:E266K	E	-	1	0	CTSO	157070186	0.857000	0.29778	1.000000	0.80357	0.998000	0.95712	0.906000	0.28517	2.598000	0.87819	0.655000	0.94253	GAA	CTSO	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C		0.433	CTSO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSO	HGNC	protein_coding	OTTHUMT00000366469.1	C	NM_001334		156850736	-1	no_errors	ENST00000433477	ensembl	human	known	70_37	missense	SNP	0.999	T
CUL2	8453	genome.wustl.edu	37	10	35349897	35349897	+	Splice_Site	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:35349897C>T	ENST00000374748.1	-	5	536		c.e5-1		CUL2_ENST00000602371.1_Intron|CUL2_ENST00000374742.1_Splice_Site|CUL2_ENST00000374751.3_Splice_Site|CUL2_ENST00000374749.3_Splice_Site|CUL2_ENST00000478044.1_5'Flank|CUL2_ENST00000537177.1_Splice_Site|CUL2_ENST00000374746.1_Splice_Site			Q13617	CUL2_HUMAN	cullin 2						cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CCAAAACTCTCTATATAAAGA	0.294																																																	0													89.0	83.0	85.0					10																	35349897		2203	4300	6503	SO:0001630	splice_region_variant	8453			U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.223-1G>A	10.37:g.35349897C>T			B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Splice_Site	SNP	-	e4-1	ENST00000374748.1	37	c.280-1	CCDS7179.1	10	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061438	0.76187	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374742;ENST00000537177;ENST00000421317	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7292	0.91728	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CUL2	35389903	1.000000	0.71417	0.987000	0.45799	0.785000	0.44390	7.491000	0.81471	2.520000	0.84964	0.591000	0.81541	.	CUL2	-	-		0.294	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL2	HGNC	protein_coding	OTTHUMT00000047538.1	C	NM_003591	Intron	35349897	-1	no_errors	ENST00000537177	ensembl	human	known	70_37	splice_site	SNP	1.000	T
CUL5	8065	genome.wustl.edu	37	11	107965208	107965208	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:107965208G>A	ENST00000393094.2	+	14	2150	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	512					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		AGCTTTTAAGGAAATGCACAA	0.274																																																	0													34.0	35.0	34.0					11																	107965208		2200	4287	6487	SO:0001583	missense	8065			X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.1534G>A	11.37:g.107965208G>A	ENSP00000376808:p.Glu512Lys		A8K960|O14766|Q9BZC6	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.E512K	ENST00000393094.2	37	c.1534	CCDS31668.1	11	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699754	0.48307	.	.	ENSG00000166266	ENST00000393094	T	0.74106	-0.81	5.77	5.77	0.91146	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	T	0.69196	0.3084	L	0.39397	1.21	0.80722	D	1	B	0.16802	0.019	B	0.11329	0.006	T	0.61093	-0.7132	10	0.28530	T	0.3	-21.7589	20.3473	0.98799	0.0:0.0:1.0:0.0	.	512	Q93034	CUL5_HUMAN	K	512	ENSP00000376808:E512K	ENSP00000376808:E512K	E	+	1	0	CUL5	107470418	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.386000	0.97228	2.884000	0.98904	0.655000	0.94253	GAA	CUL5	-	pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology		0.274	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL5	HGNC	protein_coding	OTTHUMT00000389429.1	G			107965208	+1	no_errors	ENST00000393094	ensembl	human	known	70_37	missense	SNP	1.000	A
CXorf65	158830	genome.wustl.edu	37	X	70326271	70326271	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:70326271G>A	ENST00000374251.5	-	2	79	c.31C>T	c.(31-33)Cag>Tag	p.Q11*		NM_001025265.2	NP_001020436.1	A6NEN9	CX065_HUMAN	chromosome X open reading frame 65	11										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						AGAAACTGCTGATTATCTGAG	0.493																																																	0													149.0	118.0	129.0					X																	70326271		2203	4300	6503	SO:0001587	stop_gained	158830			BC144434	CCDS35324.1	Xq13.1	2009-03-06			ENSG00000204165	ENSG00000204165			33713	protein-coding gene	gene with protein product							Standard	NM_001025265		Approved		uc011mpo.2	A6NEN9	OTTHUMG00000021785	ENST00000374251.5:c.31C>T	X.37:g.70326271G>A	ENSP00000363369:p.Gln11*			Nonsense_Mutation	SNP	NULL	p.Q11*	ENST00000374251.5	37	c.31	CCDS35324.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.029582	0.97216	.	.	ENSG00000204165	ENST00000374251;ENST00000438526	.	.	.	4.93	4.93	0.64822	.	0.498482	0.19367	N	0.115983	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	14.0017	0.64437	0.0:0.0:1.0:0.0	.	.	.	.	X	11	.	ENSP00000363369:Q11X	Q	-	1	0	CXorf65	70242996	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	2.141000	0.42168	2.274000	0.75844	0.600000	0.82982	CAG	CXorf65	-	NULL		0.493	CXorf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf65	HGNC	protein_coding	OTTHUMT00000057089.2	G	NM_001025265		70326271	-1	no_errors	ENST00000374251	ensembl	human	known	70_37	nonsense	SNP	1.000	A
CYHR1	50626	genome.wustl.edu	37	8	145689761	145689761	+	Intron	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr8:145689761C>T	ENST00000438911.2	-	2	380				CYHR1_ENST00000530374.1_5'Flank|CYHR1_ENST00000424149.2_Missense_Mutation_p.E110K|CTD-2517M22.16_ENST00000525461.1_RNA|CYHR1_ENST00000403000.2_Missense_Mutation_p.E110K|KIFC2_ENST00000301332.2_5'Flank|CYHR1_ENST00000306145.5_Missense_Mutation_p.E110K	NM_138496.1	NP_612505.1	Q6ZMK1	CYHR1_HUMAN	cysteine/histidine-rich 1							cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)	zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GAGCGGCCCTCAGGGCCGAGG	0.632																																																	0													40.0	48.0	45.0					8																	145689761		2201	4292	6493	SO:0001627	intron_variant	50626			AB007965	CCDS6426.1, CCDS47943.1	8q24	2004-12-07	2005-07-24		ENSG00000187954	ENSG00000187954			17806	protein-coding gene	gene with protein product			"""cysteine and histidine rich 1"""			10745073	Standard	NM_138496		Approved	CHRP, KIAA0496, MGC13010	uc003zcv.2	Q6ZMK1	OTTHUMG00000165171	ENST00000438911.2:c.246+81G>A	8.37:g.145689761C>T			B3KSX0|D3DWM3|Q9BSF6|Q9BSU6	Missense_Mutation	SNP	NULL	p.E110K	ENST00000438911.2	37	c.328	CCDS47943.1	8	.	.	.	.	.	.	.	.	.	.	C	29.0	4.971775	0.92919	.	.	ENSG00000187954	ENST00000403000;ENST00000424149;ENST00000306145;ENST00000533764	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	4.66	4.66	0.58398	.	0.000000	0.64402	U	0.000014	T	0.51346	0.1669	L	0.27053	0.805	0.31265	N	0.692459	D	0.67145	0.996	D	0.75484	0.986	T	0.58945	-0.7546	10	0.87932	D	0	.	15.0345	0.71734	0.0:1.0:0.0:0.0	.	110	Q6ZMK1-3	.	K	110	ENSP00000385962:E110K;ENSP00000414647:E110K;ENSP00000304826:E110K;ENSP00000432902:E110K	ENSP00000304826:E110K	E	-	1	0	CYHR1	145660569	0.988000	0.35896	0.946000	0.38457	0.803000	0.45373	3.178000	0.50879	2.145000	0.66743	0.491000	0.48974	GAG	CYHR1	-	NULL		0.632	CYHR1-001	KNOWN	basic|CCDS	protein_coding	CYHR1	HGNC	protein_coding	OTTHUMT00000382438.1	C	NM_032687		145689761	-1	no_errors	ENST00000306145	ensembl	human	known	70_37	missense	SNP	0.981	T
CYP2C18	1562	genome.wustl.edu	37	10	96493117	96493117	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:96493117G>A	ENST00000285979.6	+	8	1412	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	CYP2C18_ENST00000339022.5_Missense_Mutation_p.E346K|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	405					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	CCCCAACCCAGAGATGTTTGA	0.403																																																	0													165.0	154.0	158.0					10																	96493117		2203	4300	6503	SO:0001583	missense	1562			M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.1213G>A	10.37:g.96493117G>A	ENSP00000285979:p.Glu405Lys		B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.E405K	ENST00000285979.6	37	c.1213	CCDS7435.1	10	.	.	.	.	.	.	.	.	.	.	g	6.726	0.502616	0.12822	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.73047	-0.71;-0.71	4.05	2.06	0.26882	.	0.531595	0.18874	U	0.128772	T	0.61022	0.2314	L	0.52905	1.665	0.49798	D	0.999823	B;B	0.19935	0.04;0.004	B;B	0.20955	0.032;0.008	T	0.56269	-0.8007	10	0.36615	T	0.2	.	7.2027	0.25889	0.1014:0.172:0.7266:0.0	.	346;405	Q4VAT5;P33260	.;CP2CI_HUMAN	K	346;405	ENSP00000341293:E346K;ENSP00000285979:E405K	ENSP00000285979:E405K	E	+	1	0	CYP2C18	96483107	0.042000	0.20092	0.971000	0.41717	0.051000	0.14879	0.587000	0.23909	0.896000	0.36366	0.455000	0.32223	GAG	CYP2C18	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B		0.403	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C18	HGNC	protein_coding	OTTHUMT00000049486.1	G	NM_000772		96493117	+1	no_errors	ENST00000285979	ensembl	human	known	70_37	missense	SNP	0.746	A
DAB2IP	153090	genome.wustl.edu	37	9	124534964	124534964	+	Silent	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr9:124534964C>T	ENST00000408936.3	+	12	2339	c.2157C>T	c.(2155-2157)gtC>gtT	p.V719V	DAB2IP_ENST00000309989.1_Silent_p.V595V|DAB2IP_ENST00000259371.2_Silent_p.V691V			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	719	Necessary for interaction with AKT1.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCTCCGGGGTCCAGCCCTCAC	0.572																																																	0													67.0	65.0	65.0					9																	124534964		2203	4300	6503	SO:0001819	synonymous_variant	153090			AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.2157C>T	9.37:g.124534964C>T			A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.V719	ENST00000408936.3	37	c.2157		9																																																																																			DAB2IP	-	pfam_DUF3498		0.572	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	DAB2IP	HGNC	protein_coding	OTTHUMT00000317857.1	C	NM_032552		124534964	+1	no_errors	ENST00000408936	ensembl	human	known	70_37	silent	SNP	1.000	T
DBH	1621	genome.wustl.edu	37	9	136501831	136501831	+	Splice_Site	SNP	C	C	T	rs377299166		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr9:136501831C>T	ENST00000393056.2	+	1	350	c.338C>T	c.(337-339)gCg>gTg	p.A113V		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	113	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.				behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	GCCTATTTTGCGGTGAGTCTC	0.587																																																	0								C	VAL/ALA	0,4406		0,0,2203	72.0	51.0	58.0		338	4.3	1.0	9		58	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	DBH	NM_000787.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	113/618	136501831	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	1621			X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.339+1C>T	9.37:g.136501831C>T			Q5T381|Q96AG2	Missense_Mutation	SNP	pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase	p.A113V	ENST00000393056.2	37	c.338	CCDS6977.2	9	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073142	0.55646	0.0	1.16E-4	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.75938	-0.98;-0.98	5.24	4.35	0.52113	DOMON domain (3);	0.048800	0.85682	D	0.000000	T	0.70098	0.3185	L	0.47716	1.5	0.40998	D	0.984909	B	0.32829	0.386	B	0.36244	0.22	T	0.71461	-0.4586	10	0.52906	T	0.07	-13.9109	14.0557	0.64767	0.0:0.4365:0.5635:0.0	.	113	P09172	DOPO_HUMAN	V	113;99;99	ENSP00000376776:A113V;ENSP00000263611:A99V	ENSP00000263611:A99V	A	+	2	0	DBH	135491652	1.000000	0.71417	0.997000	0.53966	0.188000	0.23474	4.965000	0.63708	1.214000	0.43395	0.561000	0.74099	GCG	DBH	-	pfam_DOMON_domain,smart_DOMON_domain,pfscan_DOMON_domain		0.587	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBH	HGNC	protein_coding	OTTHUMT00000054929.2	C	NM_000787	Missense_Mutation	136501831	+1	no_errors	ENST00000393056	ensembl	human	known	70_37	missense	SNP	1.000	T
DCAF16	54876	genome.wustl.edu	37	4	17805988	17805988	+	5'UTR	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr4:17805988C>T	ENST00000382247.1	-	0	837				DCAF16_ENST00000507768.1_5'UTR|DCAF16_ENST00000536863.1_5'UTR	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16						protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						ATCTCAGTTTCCAGGACCAGT	0.433																																																	0																																										SO:0001623	5_prime_UTR_variant	54876			AK000287	CCDS3423.1	4p15.32	2009-07-17	2009-07-17	2009-07-17	ENSG00000163257	ENSG00000163257		"""DDB1 and CUL4 associated factors"""	25987	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 30"""	C4orf30		12477932	Standard	XM_005248169		Approved	FLJ20280	uc003gpn.3	Q9NXF7	OTTHUMG00000128536	ENST00000382247.1:c.-224G>A	4.37:g.17805988C>T			B3KPB7	RNA	SNP	-	NULL	ENST00000382247.1	37	NULL	CCDS3423.1	4																																																																																			DCAF16	-	-		0.433	DCAF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF16	HGNC	protein_coding	OTTHUMT00000250371.1	C	NM_017741		17805988	-1	no_errors	ENST00000507768	ensembl	human	known	70_37	rna	SNP	0.791	T
DCAF8L2	347442	genome.wustl.edu	37	X	27765223	27765223	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:27765223C>T	ENST00000451261.2	+	5	610	c.211C>T	c.(211-213)Cga>Tga	p.R71*		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	71										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						CACAGAAAATCGAAGCTCAGA	0.488																																																	0													83.0	65.0	70.0					X																	27765223		692	1591	2283	SO:0001587	stop_gained	347442				CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.211C>T	X.37:g.27765223C>T	ENSP00000462745:p.Arg71*		B2RXH9|J3KT06	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R71*	ENST00000451261.2	37	c.211	CCDS59162.1	X																																																																																			DCAF8L2	-	NULL		0.488	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L2	HGNC	protein_coding	OTTHUMT00000056143.4	C	XM_293354		27765223	+1	no_errors	ENST00000451261	ensembl	human	known	70_37	nonsense	SNP	0.000	T
DENND4A	10260	genome.wustl.edu	37	15	66021429	66021429	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:66021429C>G	ENST00000431932.2	-	11	1676	c.1468G>C	c.(1468-1470)Gat>Cat	p.D490H	DENND4A_ENST00000443035.3_Missense_Mutation_p.D490H	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	490	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GTGTTGGTATCTACATCAACA	0.333																																																	0													46.0	42.0	44.0					15																	66021429		1899	4113	6012	SO:0001583	missense	10260			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.1468G>C	15.37:g.66021429C>G	ENSP00000396830:p.Asp490His		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat	p.D490H	ENST00000431932.2	37	c.1468	CCDS45285.1	15	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478061	0.84747	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.21932	1.98;1.98	5.74	5.74	0.90152	DENN (3);	0.000000	0.85682	D	0.000000	T	0.61515	0.2353	H	0.95004	3.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;1.0;1.0	T	0.72304	-0.4333	10	0.87932	D	0	.	19.9089	0.97019	0.0:1.0:0.0:0.0	.	490;490;490	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	H	490	ENSP00000391167:D490H;ENSP00000396830:D490H	ENSP00000396830:D490H	D	-	1	0	DENND4A	63808483	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.818000	0.86416	2.709000	0.92574	0.591000	0.81541	GAT	DENND4A	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom		0.333	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4A	HGNC	protein_coding	OTTHUMT00000419611.1	C	NM_005848		66021429	-1	no_errors	ENST00000443035	ensembl	human	known	70_37	missense	SNP	1.000	G
DENND4B	9909	genome.wustl.edu	37	1	153910246	153910246	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:153910246C>T	ENST00000361217.4	-	14	2477	c.2059G>A	c.(2059-2061)Gag>Aag	p.E687K		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	687					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCAGGCTCCTCGGGAGGTGTG	0.567																																																	0													148.0	148.0	148.0					1																	153910246		1986	4173	6159	SO:0001583	missense	9909			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2059G>A	1.37:g.153910246C>T	ENSP00000354597:p.Glu687Lys		Q5T4K0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.E687K	ENST00000361217.4	37	c.2059	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.514900	0.96402	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.10573	2.86;2.87	5.18	5.18	0.71444	.	0.132125	0.52532	D	0.000061	T	0.28797	0.0714	M	0.80982	2.52	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.03017	-1.1082	10	0.72032	D	0.01	-24.0009	17.6181	0.88073	0.0:1.0:0.0:0.0	.	687	O75064	DEN4B_HUMAN	K	687;698	ENSP00000354597:E687K;ENSP00000357635:E698K	ENSP00000354597:E687K	E	-	1	0	DENND4B	152176870	1.000000	0.71417	0.993000	0.49108	0.936000	0.57629	7.439000	0.80444	2.679000	0.91253	0.655000	0.94253	GAG	DENND4B	-	NULL		0.567	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	HGNC	protein_coding	OTTHUMT00000090278.2	C	XM_375806		153910246	-1	no_errors	ENST00000361217	ensembl	human	known	70_37	missense	SNP	1.000	T
DGKQ	1609	genome.wustl.edu	37	4	960259	960259	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr4:960259G>A	ENST00000273814.3	-	12	1496	c.1423C>T	c.(1423-1425)Cgg>Tgg	p.R475W	DGKQ_ENST00000502309.1_5'UTR	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	475	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTCACCTGCCGGATGTCCTGT	0.692																																					Esophageal Squamous(17;537 645 4447 26373)												0													47.0	48.0	48.0					4																	960259		2202	4300	6502	SO:0001583	missense	1609			L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"""diacylglycerol kinase, theta (110kD)"""	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.1423C>T	4.37:g.960259G>A	ENSP00000273814:p.Arg475Trp		Q6P3W4	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ras-assoc,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.R475W	ENST00000273814.3	37	c.1423	CCDS3342.1	4	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626109	0.66901	.	.	ENSG00000145214	ENST00000273814	T	0.33865	1.39	3.92	3.92	0.45320	Ras-association (3);	0.057395	0.64402	D	0.000008	T	0.53158	0.1779	L	0.58101	1.795	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.993	T	0.55976	-0.8055	10	0.72032	D	0.01	.	11.6279	0.51156	0.0:0.0:1.0:0.0	.	475;475	E9KL49;P52824	.;DGKQ_HUMAN	W	475	ENSP00000273814:R475W	ENSP00000273814:R475W	R	-	1	2	DGKQ	950259	0.960000	0.32886	1.000000	0.80357	0.660000	0.38997	0.521000	0.22893	2.203000	0.70933	0.655000	0.94253	CGG	DGKQ	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc		0.692	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKQ	HGNC	protein_coding	OTTHUMT00000200888.1	G			960259	-1	no_errors	ENST00000273814	ensembl	human	known	70_37	missense	SNP	1.000	A
DHX57	90957	genome.wustl.edu	37	2	39042697	39042697	+	Missense_Mutation	SNP	C	C	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:39042697C>A	ENST00000295373.6	-	20	3698	c.3572G>T	c.(3571-3573)gGa>gTa	p.G1191V		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1191							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ACCATCTCCTCCTTGGGCCCT	0.448																																					Melanoma(191;1090 2095 4375 23729 47341)												0													232.0	217.0	222.0					2																	39042697		2203	4300	6503	SO:0001583	missense	90957			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.3572G>T	2.37:g.39042697C>A	ENSP00000295373:p.Gly1191Val		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G1191V	ENST00000295373.6	37	c.3572	CCDS1800.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.48|13.48	2.248965|2.248965	0.39797|0.39797	.|.	.|.	ENSG00000163214|ENSG00000163214	ENST00000295373|ENST00000452978	T|.	0.03035|.	4.07|.	5.29|5.29	2.42|2.42	0.29668|0.29668	Domain of unknown function DUF1605 (1);|.	0.252376|.	0.27881|.	N|.	0.017470|.	T|T	0.41994|0.41994	0.1183|0.1183	L|L	0.31752|0.31752	0.955|0.955	0.80722|0.80722	D|D	1|1	P;P|.	0.37594|.	0.503;0.601|.	B;B|.	0.42959|.	0.238;0.403|.	T|T	0.09952|0.09952	-1.0651|-1.0651	10|5	0.44086|.	T|.	0.13|.	.|.	6.9729|6.9729	0.24658|0.24658	0.132:0.6723:0.127:0.0687|0.132:0.6723:0.127:0.0687	.|.	1191;583|.	Q6P158;Q59G60|.	DHX57_HUMAN;.|.	V|S	1191|514	ENSP00000295373:G1191V|.	ENSP00000295373:G1191V|.	G|R	-|-	2|3	0|2	DHX57|DHX57	38896201|38896201	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.931000|0.931000	0.56810|0.56810	1.471000|1.471000	0.35365|0.35365	0.275000|0.275000	0.22094|0.22094	0.563000|0.563000	0.77884|0.77884	GGA|AGG	DHX57	-	pfam_DUF1605		0.448	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX57	HGNC	protein_coding	OTTHUMT00000219940.2	C	NM_145646		39042697	-1	no_errors	ENST00000295373	ensembl	human	known	70_37	missense	SNP	1.000	A
DIP2B	57609	genome.wustl.edu	37	12	51133261	51133261	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr12:51133261G>A	ENST00000301180.5	+	36	4280	c.4246G>A	c.(4246-4248)Gat>Aat	p.D1416N		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1416						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TCTTCAAGCTGATCATTTCAA	0.517																																																	0													139.0	113.0	122.0					12																	51133261		2203	4300	6503	SO:0001583	missense	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.4246G>A	12.37:g.51133261G>A	ENSP00000301180:p.Asp1416Asn		Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.D1416N	ENST00000301180.5	37	c.4246	CCDS31799.1	12	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039661	0.75732	.	.	ENSG00000066084	ENST00000301180	T	0.10860	2.83	5.21	5.21	0.72293	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.19846	0.0477	M	0.66297	2.02	0.80722	D	1	B	0.31581	0.329	B	0.37387	0.248	T	0.01456	-1.1350	10	0.54805	T	0.06	-17.7365	18.5419	0.91031	0.0:0.0:1.0:0.0	.	1416	Q9P265	DIP2B_HUMAN	N	1416	ENSP00000301180:D1416N	ENSP00000301180:D1416N	D	+	1	0	DIP2B	49419528	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	7.753000	0.85153	2.716000	0.92895	0.491000	0.48974	GAT	DIP2B	-	pfam_AMP-dep_Synth/Lig		0.517	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2B	HGNC	protein_coding	OTTHUMT00000404243.1	G	NM_173602		51133261	+1	no_errors	ENST00000301180	ensembl	human	known	70_37	missense	SNP	0.999	A
DIRC2	84925	genome.wustl.edu	37	3	122545733	122545733	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:122545733C>G	ENST00000261038.5	+	3	922	c.524C>G	c.(523-525)tCt>tGt	p.S175C		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	175					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		ACGTGGTTTTCTGCAGATGAA	0.438																																																	0													154.0	147.0	149.0					3																	122545733		2203	4300	6503	SO:0001583	missense	84925			AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"""Solute carriers"""	16628	protein-coding gene	gene with protein product	"""renal cell carcinoma 4"", ""disrupted in renal cancer protein 2"""	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.524C>G	3.37:g.122545733C>G	ENSP00000261038:p.Ser175Cys		A8K561|Q8NBX9	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.S175C	ENST00000261038.5	37	c.524	CCDS3018.1	3	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812907	0.90707	.	.	ENSG00000138463	ENST00000261038	T	0.60548	0.18	5.89	5.89	0.94794	Major facilitator superfamily domain, general substrate transporter (1);	0.249179	0.47852	D	0.000205	T	0.59059	0.2166	N	0.22421	0.69	0.58432	D	0.999998	P	0.47962	0.903	P	0.52386	0.697	T	0.59043	-0.7528	10	0.49607	T	0.09	.	19.3094	0.94179	0.0:1.0:0.0:0.0	.	175	Q96SL1	DIRC2_HUMAN	C	175	ENSP00000261038:S175C	ENSP00000261038:S175C	S	+	2	0	DIRC2	124028423	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.193000	0.77780	2.810000	0.96702	0.650000	0.86243	TCT	DIRC2	-	superfamily_MFS_dom_general_subst_transpt		0.438	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRC2	HGNC	protein_coding	OTTHUMT00000356180.2	C	NM_032839		122545733	+1	no_errors	ENST00000261038	ensembl	human	known	70_37	missense	SNP	1.000	G
DLGAP5	9787	genome.wustl.edu	37	14	55643784	55643784	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr14:55643784C>T	ENST00000247191.2	-	8	1261	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	DLGAP5_ENST00000395425.2_Missense_Mutation_p.E349K	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	349					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TCTTACACTTCTGTTTTTAAA	0.348																																																	0													52.0	53.0	52.0					14																	55643784		2203	4300	6503	SO:0001583	missense	9787			D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.1045G>A	14.37:g.55643784C>T	ENSP00000247191:p.Glu349Lys		A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	pfam_GKAP	p.E349K	ENST00000247191.2	37	c.1045	CCDS9723.1	14	.	.	.	.	.	.	.	.	.	.	C	9.449	1.090133	0.20390	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.17054	2.3;2.3	5.62	2.75	0.32379	.	0.879001	0.10348	N	0.685477	T	0.19725	0.0474	M	0.62723	1.935	0.20926	N	0.99982	B;B	0.31153	0.31;0.31	B;B	0.33960	0.173;0.173	T	0.19877	-1.0292	10	0.35671	T	0.21	.	8.2888	0.31946	0.0:0.5932:0.2604:0.1463	.	349;349	A8MTM6;Q15398	.;DLGP5_HUMAN	K	349	ENSP00000378815:E349K;ENSP00000247191:E349K	ENSP00000247191:E349K	E	-	1	0	DLGAP5	54713537	0.013000	0.17824	0.748000	0.31131	0.057000	0.15508	0.347000	0.20014	0.845000	0.35118	0.655000	0.94253	GAA	DLGAP5	-	pfam_GKAP		0.348	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP5	HGNC	protein_coding	OTTHUMT00000276908.2	C	NM_014750		55643784	-1	no_errors	ENST00000247191	ensembl	human	known	70_37	missense	SNP	0.163	T
DMBT1	1755	genome.wustl.edu	37	10	124348535	124348535	+	Missense_Mutation	SNP	G	G	A	rs371683770		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:124348535G>A	ENST00000338354.3	+	17	1965	c.1859G>A	c.(1858-1860)cGa>cAa	p.R620Q	DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.R620Q|DMBT1_ENST00000344338.3_Missense_Mutation_p.R610Q|DMBT1_ENST00000368955.3_Missense_Mutation_p.R610Q|DMBT1_ENST00000359586.6_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	620	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTCCTATACCGAGGCTCTTGG	0.592																																					Ovarian(182;93 2026 18125 22222 38972)												0								G	,GLN/ARG,GLN/ARG	3,4015		0,3,2006	342.0	250.0	280.0		,1859,1829	0.6	1.0	10		280	0,8298		0,0,4149	no	intron,missense,missense	DMBT1	NM_004406.2,NM_007329.2,NM_017579.2	,43,43	0,3,6155	AA,AG,GG		0.0,0.0747,0.0244	,probably-damaging,probably-damaging	,620/2414,610/2404	124348535	3,12313	2009	4149	6158	SO:0001583	missense	1755				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.1859G>A	10.37:g.124348535G>A	ENSP00000342210:p.Arg620Gln		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt	p.R620Q	ENST00000338354.3	37	c.1859		10	.	.	.	.	.	.	.	.	.	.	G	4.039	0.004803	0.07866	7.47E-4	0.0	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000344338;ENST00000368909;ENST00000368955	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	4.19	0.593	0.17478	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.889113	0.09321	N	0.818202	T	0.11410	0.0278	N	0.03881	-0.34	0.09310	N	1	B;B;B	0.18013	0.02;0.02;0.025	B;B;B	0.13407	0.005;0.005;0.009	T	0.33624	-0.9861	10	0.07325	T	0.83	.	7.8775	0.29603	0.3697:0.0:0.6303:0.0	.	620;610;620	Q9UGM3-6;Q9UGM3-3;Q9UGM3	.;.;DMBT1_HUMAN	Q	620;620;620;620;620;620;610;620;610	ENSP00000342210:R620Q;ENSP00000343175:R610Q;ENSP00000357905:R620Q;ENSP00000357951:R610Q	ENSP00000342210:R620Q	R	+	2	0	DMBT1	124338525	0.000000	0.05858	0.959000	0.39883	0.822000	0.46500	-1.288000	0.02783	0.150000	0.19136	0.485000	0.47835	CGA	DMBT1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.592	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	G	NM_004406		124348535	+1	no_errors	ENST00000368915	ensembl	human	known	70_37	missense	SNP	0.001	A
DMBT1	1755	genome.wustl.edu	37	10	124399643	124399643	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:124399643C>T	ENST00000338354.3	+	52	6749	c.6643C>T	c.(6643-6645)Cac>Tac	p.H2215Y	DMBT1_ENST00000368956.2_Missense_Mutation_p.H1587Y|DMBT1_ENST00000330163.4_Missense_Mutation_p.H1587Y|DMBT1_ENST00000368909.3_Missense_Mutation_p.H2215Y|DMBT1_ENST00000344338.3_Missense_Mutation_p.H2205Y|DMBT1_ENST00000368955.3_Missense_Mutation_p.H2205Y|DMBT1_ENST00000359586.6_Missense_Mutation_p.H935Y			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2215	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCTCCGTATTCACGTCAGCTG	0.507																																					Ovarian(182;93 2026 18125 22222 38972)												0													177.0	165.0	169.0					10																	124399643		2120	4250	6370	SO:0001583	missense	1755				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.6643C>T	10.37:g.124399643C>T	ENSP00000342210:p.His2215Tyr		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt	p.H2344Y	ENST00000338354.3	37	c.7030		10	.	.	.	.	.	.	.	.	.	.	C	4.562	0.104408	0.08731	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	D;D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	5.63	3.79	0.43588	Zona pellucida sperm-binding protein (3);	.	.	.	.	T	0.72137	0.3423	L	0.31926	0.97	0.09310	N	1	P;B;B;B;B;B;B	0.34462	0.454;0.222;0.113;0.091;0.091;0.091;0.111	B;B;B;B;B;B;B	0.27500	0.08;0.08;0.055;0.032;0.026;0.032;0.054	T	0.60875	-0.7176	9	0.48119	T	0.1	.	9.4763	0.38873	0.0:0.7868:0.0:0.2132	.	935;2195;1464;2344;1587;2205;2215	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	Y	2215;2344;2215;2215;2215;2214;1587;2205;1587;1587;2215;2205;1587;361;935	ENSP00000342210:H2215Y;ENSP00000343175:H2205Y;ENSP00000327747:H1587Y;ENSP00000357905:H2215Y;ENSP00000357951:H2205Y;ENSP00000357952:H1587Y;ENSP00000352593:H935Y	ENSP00000331522:H1587Y	H	+	1	0	DMBT1	124389633	0.006000	0.16342	0.001000	0.08648	0.013000	0.08279	0.988000	0.29616	0.748000	0.32831	0.655000	0.94253	CAC	DMBT1	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom		0.507	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	C	NM_004406		124399643	+1	no_errors	ENST00000368915	ensembl	human	known	70_37	missense	SNP	0.001	T
DNAH3	55567	genome.wustl.edu	37	16	21082114	21082114	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr16:21082114G>A	ENST00000261383.3	-	22	3117	c.3118C>T	c.(3118-3120)Caa>Taa	p.Q1040*	DNAH3_ENST00000415178.1_Nonsense_Mutation_p.Q1040*	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1040	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGTAGCATTTGAATGTCATCA	0.403																																																	0													199.0	173.0	182.0					16																	21082114		2201	4300	6501	SO:0001587	stop_gained	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3118C>T	16.37:g.21082114G>A	ENSP00000261383:p.Gln1040*		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.Q1040*	ENST00000261383.3	37	c.3118	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	G	42	9.251006	0.99115	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	19.5996	0.95554	0.0:0.0:1.0:0.0	.	.	.	.	X	1040	.	ENSP00000261383:Q1040X	Q	-	1	0	DNAH3	20989615	1.000000	0.71417	0.994000	0.49952	0.877000	0.50540	9.663000	0.98605	2.648000	0.89879	0.573000	0.79308	CAA	DNAH3	-	pfam_Dynein_heavy_dom-2		0.403	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	G	NM_017539		21082114	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	nonsense	SNP	1.000	A
DNAJC6	9829	genome.wustl.edu	37	1	65860665	65860665	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:65860665C>T	ENST00000395325.3	+	13	1974	c.1817C>T	c.(1816-1818)tCc>tTc	p.S606F	DNAJC6_ENST00000263441.7_Missense_Mutation_p.S593F|DNAJC6_ENST00000371069.4_Missense_Mutation_p.S663F	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	606	Pro-rich.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TCCAGTGCTTCCAGTGACCCC	0.443																																																	0													153.0	157.0	155.0					1																	65860665		2203	4300	6503	SO:0001583	missense	9829			AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.1817C>T	1.37:g.65860665C>T	ENSP00000378735:p.Ser606Phe		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DnaJ_N,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N	p.S663F	ENST00000395325.3	37	c.1988	CCDS30739.1	1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.472246	0.43942	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	D;D;D	0.93307	-3.2;-3.2;-3.2	5.37	5.37	0.77165	.	0.357494	0.31495	N	0.007542	D	0.89729	0.6799	N	0.22421	0.69	0.32824	D	0.5031	P;P	0.51057	0.941;0.902	P;B	0.50708	0.648;0.445	D	0.89465	0.3739	10	0.49607	T	0.09	.	19.3111	0.94188	0.0:1.0:0.0:0.0	.	663;606	O75061-2;O75061	.;AUXI_HUMAN	F	593;606;663	ENSP00000263441:S593F;ENSP00000378735:S606F;ENSP00000360108:S663F	ENSP00000263441:S593F	S	+	2	0	DNAJC6	65633253	0.986000	0.35501	0.997000	0.53966	0.114000	0.19823	3.180000	0.50895	2.789000	0.95967	0.650000	0.86243	TCC	DNAJC6	-	NULL		0.443	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	DNAJC6	HGNC	protein_coding	OTTHUMT00000025134.1	C			65860665	+1	no_errors	ENST00000371069	ensembl	human	known	70_37	missense	SNP	0.999	T
DSG1	1828	genome.wustl.edu	37	18	28923956	28923956	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr18:28923956C>T	ENST00000257192.4	+	13	2101	c.1889C>T	c.(1888-1890)tCa>tTa	p.S630L	RP11-534N16.1_ENST00000578119.1_RNA|DSG1_ENST00000462981.2_5'UTR|RNU6-167P_ENST00000384292.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	630					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ATTGACAACTCAGGTAAGAAA	0.289																																																	0													103.0	96.0	99.0					18																	28923956		2203	4296	6499	SO:0001583	missense	1828			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1889C>T	18.37:g.28923956C>T	ENSP00000257192:p.Ser630Leu		B7Z845	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmo_cadherin	p.S630L	ENST00000257192.4	37	c.1889	CCDS11896.1	18	.	.	.	.	.	.	.	.	.	.	C	15.48	2.844752	0.51164	.	.	ENSG00000134760	ENST00000257192	T	0.57752	0.38	4.98	4.1	0.47936	.	0.681526	0.13440	N	0.387799	T	0.42359	0.1199	L	0.41492	1.28	0.80722	D	1	P	0.41475	0.751	B	0.37731	0.257	T	0.17107	-1.0380	10	0.26408	T	0.33	.	11.4966	0.50413	0.0:0.8193:0.1807:0.0	.	630	Q02413	DSG1_HUMAN	L	630	ENSP00000257192:S630L	ENSP00000257192:S630L	S	+	2	0	DSG1	27177954	0.967000	0.33354	0.926000	0.36857	0.874000	0.50279	3.366000	0.52343	1.456000	0.47831	0.655000	0.94253	TCA	DSG1	-	NULL		0.289	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG1	HGNC	protein_coding	OTTHUMT00000254947.1	C	NM_001942		28923956	+1	no_errors	ENST00000257192	ensembl	human	known	70_37	missense	SNP	0.892	T
DSG3	1830	genome.wustl.edu	37	18	29036985	29036985	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr18:29036985G>A	ENST00000257189.4	+	3	197	c.114G>A	c.(112-114)atG>atA	p.M38I		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	38					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AAGAAGAGATGACTATGCAAC	0.348																																																	0													170.0	169.0	169.0					18																	29036985		2203	4300	6503	SO:0001583	missense	1830			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.114G>A	18.37:g.29036985G>A	ENSP00000257189:p.Met38Ile		A8K2V2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.M38I	ENST00000257189.4	37	c.114	CCDS11898.1	18	.	.	.	.	.	.	.	.	.	.	G	7.307	0.614248	0.14129	.	.	ENSG00000134757	ENST00000257189	T	0.57907	0.37	4.95	-5.28	0.02755	.	1.127780	0.06829	N	0.793545	T	0.28400	0.0702	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15350	-1.0440	10	0.17369	T	0.5	.	2.5267	0.04693	0.308:0.2237:0.3586:0.1097	.	38	P32926	DSG3_HUMAN	I	38	ENSP00000257189:M38I	ENSP00000257189:M38I	M	+	3	0	DSG3	27290983	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.149000	0.10204	-1.195000	0.02680	-0.355000	0.07637	ATG	DSG3	-	NULL		0.348	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	HGNC	protein_coding	OTTHUMT00000254949.1	G	NM_001944		29036985	+1	no_errors	ENST00000257189	ensembl	human	known	70_37	missense	SNP	0.000	A
DSP	1832	genome.wustl.edu	37	6	7578090	7578090	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:7578090C>T	ENST00000379802.3	+	21	3297	c.2956C>T	c.(2956-2958)Cag>Tag	p.Q986*	DSP_ENST00000418664.2_Nonsense_Mutation_p.Q986*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	986	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GACCATGATTCAGTCCCCTTC	0.468																																																	0													122.0	116.0	118.0					6																	7578090		2203	4300	6503	SO:0001587	stop_gained	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.2956C>T	6.37:g.7578090C>T	ENSP00000369129:p.Gln986*		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Nonsense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.Q986*	ENST00000379802.3	37	c.2956	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	C	43	10.475944	0.99412	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	.	.	.	5.45	5.45	0.79879	.	0.000000	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	19.2837	0.94061	0.0:1.0:0.0:0.0	.	.	.	.	X	986;986;791	.	ENSP00000369129:Q986X	Q	+	1	0	DSP	7523089	1.000000	0.71417	0.998000	0.56505	0.688000	0.40055	4.572000	0.60886	2.553000	0.86117	0.655000	0.94253	CAG	DSP	-	smart_Spectrin/alpha-actinin		0.468	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	C	NM_004415		7578090	+1	no_errors	ENST00000379802	ensembl	human	known	70_37	nonsense	SNP	1.000	T
DST	667	genome.wustl.edu	37	6	56374567	56374567	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:56374567C>G	ENST00000361203.3	-	69	17932	c.17925G>C	c.(17923-17925)caG>caC	p.Q5975H	DST_ENST00000370769.4_Missense_Mutation_p.Q6086H|DST_ENST00000421834.2_Missense_Mutation_p.Q3998H|DST_ENST00000446842.2_Missense_Mutation_p.Q5760H|DST_ENST00000370788.2_Missense_Mutation_p.Q3889H|DST_ENST00000340834.4_5'UTR|DST_ENST00000370754.5_Missense_Mutation_p.Q6264H|DST_ENST00000244364.6_Missense_Mutation_p.Q3672H|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	5976					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTCACTGATCTGTTCCTTGA	0.458																																																	0													136.0	122.0	127.0					6																	56374567		1899	4138	6037	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.17925G>C	6.37:g.56374567C>G	ENSP00000354508:p.Gln5975His		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.Q6264H	ENST00000361203.3	37	c.18792		6	.	.	.	.	.	.	.	.	.	.	C	15.21	2.765733	0.49574	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203;ENST00000537444	T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.76	1.01	0.19927	.	0.000000	0.47455	D	0.000226	T	0.50120	0.1597	M	0.61703	1.905	0.33162	D	0.547081	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;1.0;0.998;0.999;0.995	T	0.54377	-0.8303	9	0.46703	T	0.11	.	11.8096	0.52175	0.0:0.6153:0.0:0.3847	.	3998;6086;6264;6084;3672	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	H	3672;6264;6086;3998;5760;3889;5975;88	ENSP00000244364:Q3672H;ENSP00000359790:Q6264H;ENSP00000359805:Q6086H;ENSP00000400883:Q3998H;ENSP00000393645:Q5760H;ENSP00000359824:Q3889H;ENSP00000354508:Q5975H	ENSP00000244364:Q3672H	Q	-	3	2	DST	56482526	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.021000	0.30040	0.236000	0.21180	0.655000	0.94253	CAG	DST	-	superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.458	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	C	NM_001723		56374567	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	1.000	G
DZIP1	22873	genome.wustl.edu	37	13	96234549	96234549	+	Nonsense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr13:96234549G>C	ENST00000376829.2	-	23	3394	c.2543C>G	c.(2542-2544)tCa>tGa	p.S848*	DZIP1_ENST00000347108.3_Nonsense_Mutation_p.S848*|DZIP1_ENST00000361156.3_Nonsense_Mutation_p.S829*|DZIP1_ENST00000361396.2_Nonsense_Mutation_p.S829*	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	848					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TAATGTGCTTGATTCATTTTC	0.388																																																	0													210.0	176.0	187.0					13																	96234549		2203	4300	6503	SO:0001587	stop_gained	22873			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.2543C>G	13.37:g.96234549G>C	ENSP00000366025:p.Ser848*		Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S848*	ENST00000376829.2	37	c.2543	CCDS9478.1	13	.	.	.	.	.	.	.	.	.	.	G	45	11.497323	0.99568	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	.	.	.	5.24	0.55	0.17219	.	1.131390	0.06536	N	0.742310	.	.	.	.	.	.	0.40897	D	0.984122	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	0.1739	7.9917	0.30244	0.4042:0.0:0.5958:0.0	.	.	.	.	X	848;829;829;848	.	ENSP00000257312:S848X	S	-	2	0	DZIP1	95032550	0.005000	0.15991	0.000000	0.03702	0.783000	0.44284	0.773000	0.26661	0.059000	0.16252	-0.218000	0.12543	TCA	DZIP1	-	NULL		0.388	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DZIP1	HGNC	protein_coding	OTTHUMT00000045496.3	G	NM_014934		96234549	-1	no_errors	ENST00000347108	ensembl	human	known	70_37	nonsense	SNP	0.001	C
EEF2K	29904	genome.wustl.edu	37	16	22268579	22268579	+	Silent	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr16:22268579C>T	ENST00000263026.5	+	8	1248	c.774C>T	c.(772-774)ttC>ttT	p.F258F		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	258	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TGTAGGCCTTCAGCCACTTCA	0.577																																					NSCLC(195;1411 2157 20319 27471 51856)												0													126.0	107.0	114.0					16																	22268579		2197	4300	6497	SO:0001819	synonymous_variant	29904			U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.774C>T	16.37:g.22268579C>T			Q8N588	Silent	SNP	pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase	p.F258	ENST00000263026.5	37	c.774	CCDS10604.1	16																																																																																			EEF2K	-	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase		0.577	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2K	HGNC	protein_coding	OTTHUMT00000211580.2	C	NM_013302		22268579	+1	no_errors	ENST00000263026	ensembl	human	known	70_37	silent	SNP	1.000	T
EDC4	23644	genome.wustl.edu	37	16	67917564	67917564	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr16:67917564C>T	ENST00000358933.5	+	28	4182	c.3943C>T	c.(3943-3945)Cag>Tag	p.Q1315*	NRN1L_ENST00000576147.1_5'Flank|NRN1L_ENST00000339176.3_5'Flank|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	1315					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)		p.Q1315*(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CCCGCTCTCCCAGCCTGTGCT	0.602											OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Nonsense(1)	lung(1)											143.0	146.0	145.0					16																	67917564		2198	4300	6498	SO:0001587	stop_gained	23644			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.3943C>T	16.37:g.67917564C>T	ENSP00000351811:p.Gln1315*	1103	A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Nonsense_Mutation	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q1315*	ENST00000358933.5	37	c.3943	CCDS10849.1	16	.	.	.	.	.	.	.	.	.	.	C	44	10.941959	0.99492	.	.	ENSG00000038358	ENST00000358933	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-17.7351	19.0455	0.93018	0.0:1.0:0.0:0.0	.	.	.	.	X	1315	.	ENSP00000351811:Q1315X	Q	+	1	0	EDC4	66475065	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.595000	0.82710	2.597000	0.87782	0.655000	0.94253	CAG	EDC4	-	NULL		0.602	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC4	HGNC	protein_coding	OTTHUMT00000268874.2	C	NM_014329		67917564	+1	no_errors	ENST00000358933	ensembl	human	known	70_37	nonsense	SNP	1.000	T
EMC1	23065	genome.wustl.edu	37	1	19553813	19553813	+	Silent	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:19553813G>C	ENST00000477853.1	-	18	2238	c.2196C>G	c.(2194-2196)ctC>ctG	p.L732L	EMC1_ENST00000375199.3_Silent_p.L731L|EMC1_ENST00000375208.3_Silent_p.L710L|RP1-43E13.2_ENST00000437898.1_RNA	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	732						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											GTACCTTGTAGAGCACACTGC	0.532																																																	0													132.0	102.0	112.0					1																	19553813		2203	4300	6503	SO:0001819	synonymous_variant	23065				CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.2196C>G	1.37:g.19553813G>C			A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Silent	SNP	pfam_DUF1620,superfamily_Quinonprotein_ADH-like	p.L732	ENST00000477853.1	37	c.2196	CCDS190.1	1	.	.	.	.	.	.	.	.	.	.	G	8.662	0.900843	0.17686	.	.	ENSG00000127463	ENST00000375197	.	.	.	4.53	4.53	0.55603	.	0.145174	0.51477	D	0.000091	T	0.64516	0.2605	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66400	-0.5933	6	0.56958	D	0.05	-12.6211	9.7384	0.40401	0.095:0.0:0.905:0.0	.	.	.	.	V	466	.	ENSP00000364343:L466V	L	-	1	2	KIAA0090	19426400	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.176000	0.31957	2.350000	0.79820	0.462000	0.41574	CTA	EMC1	-	NULL		0.532	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EMC1	HGNC	protein_coding	OTTHUMT00000007076.2	G	NM_015047		19553813	-1	no_errors	ENST00000477853	ensembl	human	known	70_37	silent	SNP	1.000	C
ELTD1	64123	genome.wustl.edu	37	1	79403949	79403949	+	Nonsense_Mutation	SNP	C	C	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:79403949C>A	ENST00000370742.3	-	5	475	c.412G>T	c.(412-414)Gaa>Taa	p.E138*		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	138					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GCCACAGGTTCTTTTATGGAT	0.303																																																	0													42.0	38.0	39.0					1																	79403949		1798	4058	5856	SO:0001587	stop_gained	64123			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.412G>T	1.37:g.79403949C>A	ENSP00000359778:p.Glu138*		B1AR71|Q5KU34	Nonsense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.E138*	ENST00000370742.3	37	c.412	CCDS41352.1	1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.582825	0.46006	.	.	ENSG00000162618	ENST00000370742	.	.	.	5.81	2.92	0.33932	.	0.315023	0.39210	N	0.001421	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.1822	0.25778	0.0:0.6448:0.1364:0.2189	.	.	.	.	X	138	.	.	E	-	1	0	ELTD1	79176537	0.911000	0.30947	0.371000	0.25978	0.054000	0.15201	1.652000	0.37313	0.358000	0.24211	-0.142000	0.14014	GAA	ELTD1	-	pfam_DUF3497		0.303	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELTD1	HGNC	protein_coding	OTTHUMT00000026859.1	C	NM_022159		79403949	-1	no_errors	ENST00000370742	ensembl	human	known	70_37	nonsense	SNP	0.611	A
PLD1	5337	genome.wustl.edu	37	3	171510320	171510320	+	Intron	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:171510320G>A	ENST00000351298.4	-	1	96				PP13439_ENST00000331659.2_Silent_p.L93L|PLD1_ENST00000340989.4_Intron|PLD1_ENST00000356327.5_Intron|PLD1_ENST00000497307.1_Intron|PLD1_ENST00000342215.6_Intron	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific						chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AGGTCTCGCTGAGCAAACCAG	0.592																																					NSCLC(149;2174 3517 34058)												0																																										SO:0001627	intron_variant	0			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.30+17868C>T	3.37:g.171510320G>A				Silent	SNP	NULL	p.L93	ENST00000351298.4	37	c.279	CCDS3216.1	3																																																																																			PP13439	-	NULL		0.592	PLD1-001	KNOWN	basic|CCDS	protein_coding	ENSG00000183657	Uniprot_genename	protein_coding	OTTHUMT00000346730.2	G	NM_002662		171510320	-1	no_errors	ENST00000331659	ensembl	human	known	70_37	silent	SNP	0.000	A
CCT6A	908	genome.wustl.edu	37	7	56123141	56123141	+	Intron	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:56123141C>G	ENST00000275603.4	+	4	555				CCT6A_ENST00000335503.3_Intron|SNORA22_ENST00000383876.1_RNA|CCT6A_ENST00000540286.1_Intron	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)						'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTCATCTGCTCTGCATTGAAA	0.398																																																	0																																										SO:0001627	intron_variant	0			M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"""Heat Shock Proteins / Chaperonins"""	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.337-176C>G	7.37:g.56123141C>G			A6NCD2|Q3KP28|Q75LP4|Q96S46	RNA	SNP	-	NULL	ENST00000275603.4	37	NULL	CCDS5523.1	7																																																																																			SNORA22	-	-		0.398	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000206603	RFAM	protein_coding	OTTHUMT00000251526.2	C	NM_001762		56123141	+1	no_errors	ENST00000383876	ensembl	human	novel	70_37	rna	SNP	1.000	G
Unknown	0	genome.wustl.edu	37	7	102318995	102318995	+	IGR	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:102318995C>T								POLR2J2 (6907 upstream) : FAM185A (70422 downstream)																							TGCTTCTGCTCAGGGGGTTGG	0.527																																																	0																																										SO:0001628	intergenic_variant	0																															7.37:g.102318995C>T				Silent	SNP	NULL	p.L103		37	c.309		7																																																																																			AC105052.1	-	NULL	0	0.527					ENSG00000205233	Clone_based_ensembl_gene			C			102318995	-1	no_errors	ENST00000542270	ensembl	human	known	70_37	silent	SNP	0.011	T
ZNF971P	100419895	genome.wustl.edu	37	16	34682135	34682135	+	RNA	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr16:34682135G>A	ENST00000568619.1	-	0	344																											CCAAGTGGCTGAAGGCTCTAC	0.373																																																	0																																												0																															16.37:g.34682135G>A				RNA	SNP	-	NULL	ENST00000568619.1	37	NULL		16																																																																																			RP11-80F22.10	-	-		0.373	RP11-80F22.10-002	KNOWN	basic	processed_transcript	ENSG00000214581	Clone_based_vega_gene	pseudogene	OTTHUMT00000431371.1	G			34682135	-1	no_errors	ENST00000568619	ensembl	human	known	70_37	rna	SNP	0.977	A
GOLGA6L4	643707	genome.wustl.edu	37	15	82934883	82934883	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:82934883C>T	ENST00000559949.1	-	6	756	c.697G>A	c.(697-699)Gag>Aag	p.E233K	RP13-996F3.5_ENST00000560844.1_5'UTR																NS(1)	1						AGCCTCTCCTCCTGTTCACGT	0.557																																																	0																																										SO:0001583	missense	0																														ENST00000559949.1:c.697G>A	15.37:g.82934883C>T	ENSP00000453573:p.Glu233Lys			Missense_Mutation	SNP	NULL	p.E233K	ENST00000559949.1	37	c.697		15																																																																																			RP13-996F3.5	-	NULL		0.557	RP13-996F3.5-001	PUTATIVE	basic|appris_principal	protein_coding	ENSG00000215749	Clone_based_vega_gene	protein_coding	OTTHUMT00000419268.1	C			82934883	-1	no_errors	ENST00000559949	ensembl	human	putative	70_37	missense	SNP	0.782	T
MX1	4599	genome.wustl.edu	37	21	42813585	42813585	+	Intron	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr21:42813585C>T	ENST00000398600.2	+	12	1755				MX1_ENST00000398598.3_Intron|MX1_ENST00000455164.2_Intron|MX1_ENST00000288383.6_Intron|AP001610.5_ENST00000411427.1_RNA	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1						apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				AGCAGTTGTTCGTTCACCTCT	0.587																																																	0																																										SO:0001627	intron_variant	0				CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"""interferon-inducible protein p78"""	147150	"""myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"""			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.731-58C>T	21.37:g.42813585C>T			B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	RNA	SNP	-	NULL	ENST00000398600.2	37	NULL	CCDS13673.1	21																																																																																			AP001610.5	-	-		0.587	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000228318	Clone_based_vega_gene	protein_coding	OTTHUMT00000195161.2	C			42813585	-1	no_errors	ENST00000411427	ensembl	human	known	70_37	rna	SNP	0.000	T
BCL6	604	genome.wustl.edu	37	3	187451567	187451567	+	Intron	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:187451567G>A	ENST00000406870.2	-	3	357				BCL6_ENST00000496823.1_5'Flank|BCL6_ENST00000450123.2_Intron|RP11-211G3.3_ENST00000449623.1_Missense_Mutation_p.A129T|BCL6_ENST00000232014.4_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6						actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		AGAGCAGGTGGCTTAGCCTGC	0.438			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																			Dom	yes		3	3q27	604	B-cell CLL/lymphoma 6		L	0																																										SO:0001627	intron_variant	0				CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.10-76C>T	3.37:g.187451567G>A			A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	NULL	p.A129T	ENST00000406870.2	37	c.385	CCDS3289.1	3	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170507	0.38315	.	.	ENSG00000228804	ENST00000449623	.	.	.	5.12	1.29	0.21616	.	.	.	.	.	T	0.38825	0.1055	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.35798	-0.9774	5	0.87932	D	0	.	5.0887	0.14696	0.2567:0.1518:0.5914:0.0	.	.	.	.	T	129	.	ENSP00000407813:A129T	A	+	1	0	RP11-211G3.3	188934261	0.000000	0.05858	0.002000	0.10522	0.024000	0.10985	-0.068000	0.11561	0.103000	0.17682	0.655000	0.94253	GCT	RP11-211G3.3	-	NULL		0.438	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000228804	Clone_based_vega_gene	protein_coding	OTTHUMT00000344202.1	G	NM_138931		187451567	+1	no_errors	ENST00000449623	ensembl	human	putative	70_37	missense	SNP	0.015	A
DNM1P47	100216544	genome.wustl.edu	37	15	102312932	102312932	+	RNA	SNP	C	C	G	rs544804952		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:102312932C>G	ENST00000561463.1	+	0	14300				RN7SL209P_ENST00000488309.2_RNA					DNM1 pseudogene 47																		CACCTGCTCTCGTAACCGTGC	0.577																																																	0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102312932C>G				RNA	SNP	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			CTD-2611K5.6	-	-		0.577	DNM1P47-001	KNOWN	basic	processed_transcript	ENSG00000259660	Clone_based_vega_gene	pseudogene	OTTHUMT00000417589.1	C	NG_009149		102312932	+1	no_errors	ENST00000561463	ensembl	human	known	70_37	rna	SNP	0.000	G
ENTHD2	146705	genome.wustl.edu	37	17	79207075	79207075	+	Intron	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:79207075G>C	ENST00000300714.3	-	7	584				ENTHD2_ENST00000374769.2_Intron|AC027601.1_ENST00000569559.1_RNA|AC027601.1_ENST00000575922.1_RNA	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2							cytoplasmic vesicle (GO:0031410)											AGCAGCCAGAGAGAGACAGTG	0.657																																																	0																																										SO:0001627	intron_variant	0			AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 56"""	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.526+156C>G	17.37:g.79207075G>C			Q6ZQU0|Q6ZSQ9	RNA	SNP	-	NULL	ENST00000300714.3	37	NULL	CCDS11779.1	17																																																																																			AC027601.1	-	-		0.657	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000260005	Clone_based_vega_gene	protein_coding	OTTHUMT00000439315.1	G	NM_144679		79207075	+1	no_errors	ENST00000575922	ensembl	human	known	70_37	rna	SNP	0.002	C
RP11-923I11.6	0	genome.wustl.edu	37	12	52213324	52213324	+	lincRNA	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr12:52213324G>A	ENST00000562343.2	+	0	1642																											CCCCTGGATGGAGTGGGGGGG	0.522																																																	0																																												0																															12.37:g.52213324G>A				RNA	SNP	-	NULL	ENST00000562343.2	37	NULL		12																																																																																			RP11-923I11.6	-	-		0.522	RP11-923I11.6-001	KNOWN	basic	lincRNA	ENSG00000261586	Clone_based_vega_gene	lincRNA	OTTHUMT00000430848.2	G			52213324	+1	no_errors	ENST00000562343	ensembl	human	putative	70_37	rna	SNP	0.000	A
NAA60	79903	genome.wustl.edu	37	16	3536030	3536030	+	3'UTR	SNP	C	C	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr16:3536030C>A	ENST00000407558.4	+	0	1802				LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000608722.1_3'UTR|NAA60_ENST00000414063.2_3'UTR|NAA60_ENST00000572584.1_3'UTR|NAA60_ENST00000608993.1_3'UTR|NAA60_ENST00000575076.1_3'UTR|NAA60_ENST00000360862.5_3'UTR|NAA60_ENST00000610180.1_3'UTR			Q9H7X0	NAA60_HUMAN	N(alpha)-acetyltransferase 60, NatF catalytic subunit						cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|histone H4 acetylation (GO:0043967)|N-terminal peptidyl-methionine acetylation (GO:0017196)|nucleosome assembly (GO:0006334)	Golgi membrane (GO:0000139)	H4 histone acetyltransferase activity (GO:0010485)|peptide alpha-N-acetyltransferase activity (GO:0004596)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						CGCCGAGACTCCTTGGGTCCT	0.622																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS45396.1	16p13.3	2012-07-13	2011-08-02	2011-08-02	ENSG00000122390	ENSG00000122390	2.3.1.48, 2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	25875	protein-coding gene	gene with protein product		614246	"""N-acetyltransferase 15 (GCN5-related, putative)"""	NAT15		12975309, 21750686	Standard	NM_001083600		Approved	FLJ14154	uc010btm.3	Q9H7X0	OTTHUMG00000150268	ENST00000407558.4:c.*770C>A	16.37:g.3536030C>A			B3KRQ0|B4DLZ0|B4DPZ8|B4DYC4|D3DUC2|E7EQ65|Q6IA31|Q6UX26	RNA	SNP	-	NULL	ENST00000407558.4	37	NULL	CCDS45396.1	16																																																																																			LA16c-306E5.2	-	-		0.622	NAA60-001	KNOWN	NMD_exception|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	ENSG00000262621	Clone_based_vega_gene	protein_coding	OTTHUMT00000317235.2	C	NM_024845		3536030	+1	no_errors	ENST00000575785	ensembl	human	known	70_37	rna	SNP	0.000	A
EDC4	23644	genome.wustl.edu	37	16	67917781	67917781	+	Intron	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr16:67917781C>G	ENST00000358933.5	+	29	4252				NRN1L_ENST00000576147.1_5'Flank|NRN1L_ENST00000339176.3_5'Flank|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		AGGGTTCCCTCTGGGCCTCGG	0.622											OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001627	intron_variant	0			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.4014-78C>G	16.37:g.67917781C>G		1103	A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	RNA	SNP	-	NULL	ENST00000358933.5	37	NULL	CCDS10849.1	16																																																																																			CTC-479C5.10	-	-		0.622	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000263126	Clone_based_vega_gene	protein_coding	OTTHUMT00000268874.2	C	NM_014329		67917781	+1	no_errors	ENST00000572067	ensembl	human	known	70_37	rna	SNP	0.850	G
DSG1	1828	genome.wustl.edu	37	18	28923597	28923597	+	Intron	SNP	C	C	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr18:28923597C>A	ENST00000257192.4	+	12	2033				RP11-534N16.1_ENST00000578119.1_RNA|DSG1_ENST00000462981.2_5'UTR|RNU6-167P_ENST00000384292.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1						apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GAAATTCAGTCTTTACACATG	0.438																																																	0													50.0	46.0	47.0					18																	28923597		2203	4300	6503	SO:0001627	intron_variant	0			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1821+51C>A	18.37:g.28923597C>A			B7Z845	RNA	SNP	-	NULL	ENST00000257192.4	37	NULL	CCDS11896.1	18																																																																																			RP11-534N16.1	-	-		0.438	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000266729	Clone_based_vega_gene	protein_coding	OTTHUMT00000254947.1	C	NM_001942		28923597	-1	no_errors	ENST00000578119	ensembl	human	known	70_37	rna	SNP	0.000	A
NUTF2	10204	genome.wustl.edu	37	16	67904664	67904664	+	Intron	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr16:67904664C>T	ENST00000219169.4	+	5	553				EDC4_ENST00000358933.5_5'Flank|NUTF2_ENST00000568396.2_Intron|NUTF2_ENST00000569436.2_Intron	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN	nuclear transport factor 2						protein export from nucleus (GO:0006611)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	transporter activity (GO:0005215)			kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		CTTCCTGTTTCTTGATCCCCT	0.463																																																	0													51.0	57.0	55.0					16																	67904664		2198	4300	6498	SO:0001627	intron_variant	0			U43939	CCDS10848.1	16q22.1	2008-02-05			ENSG00000102898	ENSG00000102898			13722	protein-coding gene	gene with protein product		605813				7744965, 3380696	Standard	NM_005796		Approved	NTF2, PP15	uc002eup.3	P61970	OTTHUMG00000137540	ENST00000219169.4:c.271-39C>T	16.37:g.67904664C>T			B2R4G7|P13662|Q6IB67	RNA	SNP	-	NULL	ENST00000219169.4	37	NULL	CCDS10848.1	16																																																																																			CTC-479C5.16	-	-		0.463	NUTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000266937	Clone_based_vega_gene	protein_coding	OTTHUMT00000268871.1	C			67904664	+1	no_errors	ENST00000587481	ensembl	human	known	70_37	rna	SNP	0.000	T
NUTF2	10204	genome.wustl.edu	37	16	67904825	67904825	+	3'UTR	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr16:67904825C>T	ENST00000219169.4	+	0	676				EDC4_ENST00000358933.5_5'Flank|NUTF2_ENST00000568396.2_3'UTR|NUTF2_ENST00000569436.2_3'UTR	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN	nuclear transport factor 2						protein export from nucleus (GO:0006611)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	transporter activity (GO:0005215)			kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		GACCTCCTCTCAGCTAGGCAC	0.517																																																	0													88.0	71.0	77.0					16																	67904825		2198	4300	6498	SO:0001624	3_prime_UTR_variant	0			U43939	CCDS10848.1	16q22.1	2008-02-05			ENSG00000102898	ENSG00000102898			13722	protein-coding gene	gene with protein product		605813				7744965, 3380696	Standard	NM_005796		Approved	NTF2, PP15	uc002eup.3	P61970	OTTHUMG00000137540	ENST00000219169.4:c.*9C>T	16.37:g.67904825C>T			B2R4G7|P13662|Q6IB67	RNA	SNP	-	NULL	ENST00000219169.4	37	NULL	CCDS10848.1	16																																																																																			CTC-479C5.16	-	-		0.517	NUTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000266937	Clone_based_vega_gene	protein_coding	OTTHUMT00000268871.1	C			67904825	+1	no_errors	ENST00000587481	ensembl	human	known	70_37	rna	SNP	0.025	T
EPAS1	2034	genome.wustl.edu	37	2	46583934	46583934	+	Silent	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:46583934G>C	ENST00000263734.3	+	4	951	c.441G>C	c.(439-441)ctG>ctC	p.L147L		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	147	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GTGAGAACCTGAGTCTCAAAA	0.458																																																	0													139.0	133.0	135.0					2																	46583934		2203	4300	6503	SO:0001819	synonymous_variant	2034			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.441G>C	2.37:g.46583934G>C			Q86VA2|Q99630	Silent	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS	p.L147	ENST00000263734.3	37	c.441	CCDS1825.1	2																																																																																			EPAS1	-	pfam_PAS_fold,smart_PAS,pfscan_PAS,tigrfam_PAS		0.458	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPAS1	HGNC	protein_coding	OTTHUMT00000250752.2	G	NM_001430		46583934	+1	no_errors	ENST00000263734	ensembl	human	known	70_37	silent	SNP	1.000	C
EPHB4	2050	genome.wustl.edu	37	7	100404047	100404047	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:100404047G>C	ENST00000358173.3	-	14	2947	c.2479C>G	c.(2479-2481)Cag>Gag	p.Q827E	EPHB4_ENST00000360620.3_Missense_Mutation_p.Q827E	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	827	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTTACGTCCTGATTGCTCATG	0.552																																					GBM(200;2113 3072 25865 52728)												0													180.0	137.0	151.0					7																	100404047		2203	4300	6503	SO:0001583	missense	2050			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2479C>G	7.37:g.100404047G>C	ENSP00000350896:p.Gln827Glu		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q827E	ENST00000358173.3	37	c.2479	CCDS5706.1	7	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302531	0.81136	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	D;D	0.81579	-1.51;-1.51	4.44	4.44	0.53790	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45606	D	0.000352	T	0.78214	0.4248	N	0.04063	-0.285	0.80722	D	1	D;D	0.65815	0.962;0.995	D;D	0.75484	0.953;0.986	D	0.84199	0.0449	10	0.87932	D	0	.	14.5501	0.68059	0.0:0.0:1.0:0.0	.	827;827	Q96L35;P54760	.;EPHB4_HUMAN	E	827	ENSP00000353833:Q827E;ENSP00000350896:Q827E	ENSP00000350896:Q827E	Q	-	1	0	EPHB4	100241983	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	7.876000	0.87215	2.021000	0.59480	0.455000	0.32223	CAG	EPHB4	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_cat_dom		0.552	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB4	HGNC	protein_coding	OTTHUMT00000347222.1	G	NM_004444		100404047	-1	no_errors	ENST00000358173	ensembl	human	known	70_37	missense	SNP	1.000	C
EPHB6	2051	genome.wustl.edu	37	7	142563943	142563943	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:142563943G>A	ENST00000392957.2	+	9	2118	c.1331G>A	c.(1330-1332)cGa>cAa	p.R444Q	EPHB6_ENST00000411471.2_Missense_Mutation_p.R167Q|EPHB6_ENST00000442129.1_Missense_Mutation_p.R444Q	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	444	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					ACTGAGAGCCGAGTGTTAGTG	0.632																																																	0													48.0	44.0	46.0					7																	142563943		2203	4300	6503	SO:0001583	missense	2051			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1331G>A	7.37:g.142563943G>A	ENSP00000376684:p.Arg444Gln		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R444Q	ENST00000392957.2	37	c.1331	CCDS5873.2	7	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726937	0.89390	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.57595	0.39;0.39;0.39	5.48	5.48	0.80851	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.39407	N	0.001371	T	0.73210	0.3558	M	0.76574	2.34	0.48762	D	0.999703	D	0.89917	1.0	D	0.76071	0.987	T	0.74156	-0.3756	10	0.51188	T	0.08	.	18.344	0.90315	0.0:0.0:1.0:0.0	.	444	O15197	EPHB6_HUMAN	Q	444;444;167	ENSP00000376684:R444Q;ENSP00000410789:R444Q;ENSP00000409061:R167Q	ENSP00000376684:R444Q	R	+	2	0	EPHB6	142274065	0.998000	0.40836	1.000000	0.80357	0.987000	0.75469	3.137000	0.50562	2.560000	0.86352	0.561000	0.74099	CGA	EPHB6	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3		0.632	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB6	HGNC	protein_coding	OTTHUMT00000341329.1	G			142563943	+1	no_errors	ENST00000392957	ensembl	human	known	70_37	missense	SNP	1.000	A
EPPK1	83481	genome.wustl.edu	37	8	144943362	144943362	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr8:144943362G>A	ENST00000525985.1	-	2	4131	c.4060C>T	c.(4060-4062)Ccc>Tcc	p.P1354S				P58107	EPIPL_HUMAN	epiplakin 1	1354						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCAGGAGGGGCAAGCCCTCG	0.692																																																	0													14.0	18.0	17.0					8																	144943362		1979	4142	6121	SO:0001583	missense	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4060C>T	8.37:g.144943362G>A	ENSP00000436337:p.Pro1354Ser		Q76E58|Q9NSU9	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.P1354S	ENST00000525985.1	37	c.4060		8	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030284	0.75504	.	.	ENSG00000227184	ENST00000525985	T	0.73047	-0.71	4.34	3.46	0.39613	.	.	.	.	.	T	0.60222	0.2252	L	0.27053	0.805	0.26157	N	0.98006	P	0.47484	0.896	P	0.46510	0.519	T	0.46748	-0.9169	9	0.20519	T	0.43	.	9.9716	0.41757	0.101:0.0:0.899:0.0	.	1354	E9PPU0	.	S	1354	ENSP00000436337:P1354S	ENSP00000436337:P1354S	P	-	1	0	EPPK1	145015350	0.997000	0.39634	0.850000	0.33497	0.885000	0.51271	3.190000	0.50973	1.030000	0.39839	0.563000	0.77884	CCC	EPPK1	-	pfam_Plectin_repeat,smart_Plectin_repeat		0.692	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	G	NM_031308		144943362	-1	no_errors	ENST00000525985	ensembl	human	known	70_37	missense	SNP	1.000	A
ESF1	51575	genome.wustl.edu	37	20	13763309	13763309	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr20:13763309C>G	ENST00000202816.1	-	2	585	c.478G>C	c.(478-480)Gaa>Caa	p.E160Q	NDUFAF5_ENST00000378106.5_5'Flank|NDUFAF5_ENST00000463598.1_5'Flank	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	160	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TGTGTAAATTCTTTGCTATCC	0.284																																																	0													36.0	38.0	37.0					20																	13763309		2200	4289	6489	SO:0001583	missense	51575				CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.478G>C	20.37:g.13763309C>G	ENSP00000202816:p.Glu160Gln		Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	pfam_NUC153	p.E160Q	ENST00000202816.1	37	c.478	CCDS13117.1	20	.	.	.	.	.	.	.	.	.	.	C	6.139	0.393952	0.11638	.	.	ENSG00000089048	ENST00000202816	T	0.23950	1.88	4.96	4.02	0.46733	.	0.658952	0.15421	N	0.263243	T	0.17874	0.0429	L	0.32530	0.975	0.24983	N	0.991583	P	0.36282	0.546	B	0.32980	0.156	T	0.10019	-1.0648	10	0.38643	T	0.18	.	8.6313	0.33922	0.0:0.7751:0.0:0.2249	.	160	Q9H501	ESF1_HUMAN	Q	160	ENSP00000202816:E160Q	ENSP00000202816:E160Q	E	-	1	0	ESF1	13711309	0.823000	0.29233	0.289000	0.24876	0.110000	0.19582	1.531000	0.36018	1.069000	0.40788	-0.218000	0.12543	GAA	ESF1	-	NULL		0.284	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESF1	HGNC	protein_coding	OTTHUMT00000078049.1	C	NM_016649		13763309	-1	no_errors	ENST00000202816	ensembl	human	known	70_37	missense	SNP	0.568	G
ETNK1	55500	genome.wustl.edu	37	12	22811985	22811985	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr12:22811985C>T	ENST00000266517.4	+	3	810	c.721C>T	c.(721-723)Cat>Tat	p.H241Y		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	241					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCATGCTATTCATGCACACAA	0.373																																					Esophageal Squamous(42;87 913 3224 6226 43339)												0													102.0	97.0	99.0					12																	22811985		2203	4300	6503	SO:0001583	missense	55500			BC006111	CCDS8698.1, CCDS41760.1	12p12.2	2004-07-09			ENSG00000139163	ENSG00000139163			24649	protein-coding gene	gene with protein product		609858				11912161, 11044454	Standard	XM_005253420		Approved	EKI1, EKI	uc001rft.3	Q9HBU6	OTTHUMG00000169008	ENST00000266517.4:c.721C>T	12.37:g.22811985C>T	ENSP00000266517:p.His241Tyr		G5E969	Missense_Mutation	SNP	pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom	p.H241Y	ENST00000266517.4	37	c.721	CCDS8698.1	12	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543391	0.65198	.	.	ENSG00000139163	ENST00000266517;ENST00000381409	T	0.57595	0.39	5.23	5.23	0.72850	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.000000	0.85682	D	0.000000	T	0.68879	0.3049	M	0.62016	1.91	0.80722	D	1	D;P	0.65815	0.995;0.467	D;B	0.64506	0.926;0.356	T	0.70985	-0.4723	10	0.59425	D	0.04	-19.8375	16.9739	0.86308	0.0:1.0:0.0:0.0	.	241;241	E9PD44;Q9HBU6	.;EKI1_HUMAN	Y	241	ENSP00000266517:H241Y	ENSP00000266517:H241Y	H	+	1	0	ETNK1	22703252	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.114000	0.77103	2.455000	0.83008	0.484000	0.47621	CAT	ETNK1	-	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom		0.373	ETNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETNK1	HGNC	protein_coding	OTTHUMT00000401926.2	C	NM_018638		22811985	+1	no_errors	ENST00000266517	ensembl	human	known	70_37	missense	SNP	1.000	T
EVA1A	84141	genome.wustl.edu	37	2	75720723	75720723	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:75720723C>T	ENST00000233712.1	-	4	535	c.98G>A	c.(97-99)cGa>cAa	p.R33Q	EVA1A_ENST00000393913.3_Missense_Mutation_p.R33Q|EVA1A_ENST00000490746.1_Intron|EVA1A_ENST00000410113.1_Missense_Mutation_p.R33Q|EVA1A_ENST00000410071.1_Missense_Mutation_p.R33Q|EVA1A_ENST00000410010.1_Missense_Mutation_p.R21Q	NM_032181.2	NP_115557.1	Q9H8M9	EVA1A_HUMAN	eva-1 homolog A (C. elegans)	33	Necessary for the localization and biological activity.				apoptotic process (GO:0006915)|autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)											CAGAGCTGCTCGCTCAGGATT	0.517																																																	0													25.0	25.0	25.0					2																	75720723		2203	4300	6503	SO:0001583	missense	84141			BC016157	CCDS1959.1	2p12	2012-11-05	2012-11-05	2012-11-05	ENSG00000115363	ENSG00000115363			25816	protein-coding gene	gene with protein product			"""transmembrane protein 166"", ""family with sequence similarity 176, member A"""	TMEM166, FAM176A		12477932	Standard	NM_001135032		Approved	FLJ13391	uc002sni.2	Q9H8M9	OTTHUMG00000129991	ENST00000233712.1:c.98G>A	2.37:g.75720723C>T	ENSP00000233712:p.Arg33Gln		D6W5J3|Q9HC41	Missense_Mutation	SNP	NULL	p.R33Q	ENST00000233712.1	37	c.98	CCDS1959.1	2	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907156	0.92107	.	.	ENSG00000115363	ENST00000393913;ENST00000233712;ENST00000410113;ENST00000410010;ENST00000410071;ENST00000432649;ENST00000452003	T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79	4.9	4.9	0.64082	.	0.050608	0.85682	D	0.000000	T	0.72070	0.3415	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76631	-0.2888	10	0.66056	D	0.02	3.6647	16.3808	0.83460	0.0:1.0:0.0:0.0	.	33	Q9H8M9	F176A_HUMAN	Q	33;33;33;21;33;33;33	ENSP00000377490:R33Q;ENSP00000233712:R33Q;ENSP00000386435:R33Q;ENSP00000386835:R21Q;ENSP00000386930:R33Q;ENSP00000398249:R33Q;ENSP00000388105:R33Q	ENSP00000233712:R33Q	R	-	2	0	FAM176A	75574231	1.000000	0.71417	0.962000	0.40283	0.814000	0.46013	7.532000	0.81985	2.626000	0.88956	0.650000	0.86243	CGA	EVA1A	-	NULL		0.517	EVA1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EVA1A	HGNC	protein_coding	OTTHUMT00000328707.1	C	NM_032181		75720723	-1	no_errors	ENST00000233712	ensembl	human	known	70_37	missense	SNP	1.000	T
FAHD2A	51011	genome.wustl.edu	37	2	96071357	96071357	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:96071357G>A	ENST00000233379.4	+	2	204	c.51G>A	c.(49-51)caG>caA	p.Q17Q	FAHD2A_ENST00000447036.1_Silent_p.Q17Q	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	17							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.Q17Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						TGCAGGCTCAGAAGTGGCCCT	0.567																																																	1	Substitution - coding silent(1)	breast(1)											70.0	70.0	70.0					2																	96071357		2203	4300	6503	SO:0001819	synonymous_variant	51011			AF151863	CCDS2014.1	2q11.2	2008-02-05			ENSG00000115042	ENSG00000115042			24252	protein-coding gene	gene with protein product							Standard	NM_016044		Approved	CGI-105	uc002sur.3	Q96GK7	OTTHUMG00000130397	ENST00000233379.4:c.51G>A	2.37:g.96071357G>A			Q9Y3B0	Silent	SNP	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	p.Q17	ENST00000233379.4	37	c.51	CCDS2014.1	2																																																																																			FAHD2A	-	NULL		0.567	FAHD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAHD2A	HGNC	protein_coding	OTTHUMT00000252778.1	G	NM_016044		96071357	+1	no_errors	ENST00000233379	ensembl	human	known	70_37	silent	SNP	0.925	A
FAM117B	150864	genome.wustl.edu	37	2	203622079	203622079	+	Silent	SNP	A	A	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:203622079A>G	ENST00000392238.2	+	6	1248	c.1248A>G	c.(1246-1248)acA>acG	p.T416T	FAM117B_ENST00000303116.6_Silent_p.T172T			Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	416										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						TGTCCCCAACATCGTTCCTCA	0.547																																																	0													156.0	133.0	141.0					2																	203622079		2203	4300	6503	SO:0001819	synonymous_variant	150864			AB053315	CCDS33362.1, CCDS33362.2	2q33	2008-08-18	2008-08-18	2008-08-18	ENSG00000138439	ENSG00000138439			14440	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13"""	ALS2CR13		11586298	Standard	NM_173511		Approved	FLJ38771	uc010zhx.2	Q6P1L5	OTTHUMG00000154550	ENST00000392238.2:c.1248A>G	2.37:g.203622079A>G			Q53QZ5|Q585T9|Q8N8W1|Q96Q34	Silent	SNP	NULL	p.T416	ENST00000392238.2	37	c.1248	CCDS33362.2	2																																																																																			FAM117B	-	NULL		0.547	FAM117B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM117B	HGNC	protein_coding	OTTHUMT00000335888.3	A	NM_173511		203622079	+1	no_errors	ENST00000392238	ensembl	human	known	70_37	silent	SNP	0.130	G
FAM120A	23196	genome.wustl.edu	37	9	96289484	96289484	+	Nonsense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr9:96289484C>G	ENST00000277165.6	+	8	1660	c.1466C>G	c.(1465-1467)tCa>tGa	p.S489*	FAM120A_ENST00000333936.5_Nonsense_Mutation_p.S517*|FAM120A_ENST00000340893.4_Nonsense_Mutation_p.S489*|FAM120A_ENST00000375389.3_Nonsense_Mutation_p.S489*	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	489						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGAAGCCACTCAGAGCCTCAG	0.438																																																	0													83.0	81.0	82.0					9																	96289484		2203	4300	6503	SO:0001587	stop_gained	23196			AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.1466C>G	9.37:g.96289484C>G	ENSP00000277165:p.Ser489*		A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Nonsense_Mutation	SNP	NULL	p.S517*	ENST00000277165.6	37	c.1550	CCDS6706.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.757237|5.757237	0.96898|0.96898	.|.	.|.	ENSG00000048828|ENSG00000048828	ENST00000446420|ENST00000375389;ENST00000277165;ENST00000333936;ENST00000340893	.|.	.|.	.|.	5.84|5.84	4.94|4.94	0.65067|0.65067	.|.	.|0.755544	.|0.12069	.|N	.|0.502390	T|.	0.41534|.	0.1163|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.47935|.	-0.9078|.	3|.	.|0.20519	.|T	.|0.43	-0.0292|-0.0292	9.6158|9.6158	0.39690|0.39690	0.141:0.7886:0.0:0.0704|0.141:0.7886:0.0:0.0704	.|.	.|.	.|.	.|.	E|X	332|489;489;517;489	.|.	.|ENSP00000277165:S489X	Q|S	+|+	1|2	0|0	FAM120A|FAM120A	95329305|95329305	0.654000|0.654000	0.27367|0.27367	0.250000|0.250000	0.24296|0.24296	0.966000|0.966000	0.64601|0.64601	1.548000|1.548000	0.36201|0.36201	1.479000|1.479000	0.48272|0.48272	0.655000|0.655000	0.94253|0.94253	CAG|TCA	FAM120A	-	NULL		0.438	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM120A	HGNC	protein_coding	OTTHUMT00000053160.2	C	NM_014612		96289484	+1	no_errors	ENST00000333936	ensembl	human	known	70_37	nonsense	SNP	0.841	G
FAM13A	10144	genome.wustl.edu	37	4	89950737	89950737	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr4:89950737C>T	ENST00000264344.5	-	2	298	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000515600.1_Missense_Mutation_p.E31K|FAM13A_ENST00000509094.1_Missense_Mutation_p.E31K|FAM13A_ENST00000511976.1_5'UTR	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	31					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TCCTTCTGTTCATTTAATGGC	0.433																																																	0													163.0	169.0	167.0					4																	89950737		2203	4300	6503	SO:0001583	missense	10144			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.91G>A	4.37:g.89950737C>T	ENSP00000264344:p.Glu31Lys		B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E31K	ENST00000264344.5	37	c.91	CCDS34029.1	4	.	.	.	.	.	.	.	.	.	.	C	2.075	-0.412178	0.04799	.	.	ENSG00000138640	ENST00000264344;ENST00000509094;ENST00000515600;ENST00000506913	T;T;T;T	0.62941	2.22;2.07;1.91;-0.01	4.14	2.27	0.28462	.	0.490195	0.21094	N	0.080262	T	0.35682	0.0940	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.0;0.006	B;B	0.06405	0.001;0.002	T	0.16424	-1.0403	9	.	.	.	.	8.5195	0.33266	0.0:0.6007:0.3081:0.0911	.	31;31	Q6P521;O94988	.;FA13A_HUMAN	K	31;31;31;41	ENSP00000264344:E31K;ENSP00000426517:E31K;ENSP00000422345:E31K;ENSP00000421269:E41K	.	E	-	1	0	FAM13A	90169760	0.000000	0.05858	0.000000	0.03702	0.204000	0.24138	0.728000	0.26013	0.613000	0.30089	0.655000	0.94253	GAA	FAM13A	-	NULL		0.433	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13A	HGNC	protein_coding	OTTHUMT00000363371.1	C			89950737	-1	no_errors	ENST00000264344	ensembl	human	known	70_37	missense	SNP	0.007	T
FAM153B	202134	genome.wustl.edu	37	5	175528087	175528087	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:175528087G>C	ENST00000253490.4	+	11	657	c.600G>C	c.(598-600)caG>caC	p.Q200H	FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000515817.1_Missense_Mutation_p.Q123H|FAM153B_ENST00000510151.1_Missense_Mutation_p.Q123H			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	200										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		GGCCAGGGCAGACAGTCTCTG	0.473																																																	0													171.0	212.0	197.0					5																	175528087		1510	2708	4218	SO:0001583	missense	202134			AK055006	CCDS43401.1, CCDS43401.2	5q35.2	2010-05-12			ENSG00000182230	ENSG00000182230			27323	protein-coding gene	gene with protein product							Standard	NM_001265615		Approved		uc031smb.1	P0C7A2	OTTHUMG00000163181	ENST00000253490.4:c.600G>C	5.37:g.175528087G>C	ENSP00000253490:p.Gln200His		A8MTI1	Missense_Mutation	SNP	prints_FAM153	p.Q200H	ENST00000253490.4	37	c.600		5	.	.	.	.	.	.	.	.	.	.	G	5.972	0.363381	0.11296	.	.	ENSG00000182230	ENST00000515817;ENST00000253490	.	.	.	0.917	-1.83	0.07833	.	.	.	.	.	T	0.23572	0.0570	N	0.19112	0.55	0.09310	N	1	D	0.53462	0.96	P	0.52554	0.702	T	0.12344	-1.0551	8	0.72032	D	0.01	.	2.7521	0.05284	0.0:0.3555:0.3708:0.2737	.	200	P0C7A2	F153B_HUMAN	H	123;200	.	ENSP00000253490:Q200H	Q	+	3	2	FAM153B	175460693	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	-1.449000	0.02392	-0.788000	0.04504	0.416000	0.27883	CAG	FAM153B	-	NULL		0.473	FAM153B-201	KNOWN	basic|appris_candidate_longest	protein_coding	FAM153B	HGNC	protein_coding		G	NM_001079529		175528087	+1	no_errors	ENST00000253490	ensembl	human	known	70_37	missense	SNP	0.000	C
FAM217A	222826	genome.wustl.edu	37	6	4073577	4073577	+	Splice_Site	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:4073577C>T	ENST00000274673.3	-	6	638		c.e6-1		FAM217A_ENST00000380188.2_Splice_Site	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A																		GTTTACTATTCTGATGACAGA	0.303																																																	0													84.0	86.0	85.0					6																	4073577		2201	4297	6498	SO:0001630	splice_region_variant	222826			BC039349	CCDS4489.1	6p25.1	2012-02-07	2012-02-07	2012-02-07	ENSG00000145975	ENSG00000145975			21362	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 146"""	C6orf146			Standard	NM_173563		Approved	MGC43581	uc003mvx.3	Q8IXS0	OTTHUMG00000014159	ENST00000274673.3:c.235-1G>A	6.37:g.4073577C>T			Q5JYK1	Splice_Site	SNP	-	e5-1	ENST00000274673.3	37	c.235-1	CCDS4489.1	6	.	.	.	.	.	.	.	.	.	.	C	8.414	0.844729	0.16963	.	.	ENSG00000145975	ENST00000274673;ENST00000470599;ENST00000498677;ENST00000492651	.	.	.	5.22	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8244	0.52259	0.0:0.8244:0.1756:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C6orf146	4018576	0.993000	0.37304	0.871000	0.34182	0.148000	0.21650	1.227000	0.32576	1.431000	0.47355	0.591000	0.81541	.	FAM217A	-	-		0.303	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM217A	HGNC	protein_coding	OTTHUMT00000352577.2	C	NM_173563	Intron	4073577	-1	no_errors	ENST00000274673	ensembl	human	known	70_37	splice_site	SNP	0.986	T
FAM184A	79632	genome.wustl.edu	37	6	119297141	119297141	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:119297141G>A	ENST00000338891.7	-	12	2967	c.2524C>T	c.(2524-2526)Caa>Taa	p.Q842*	FAM184A_ENST00000368475.4_Nonsense_Mutation_p.Q722*|FAM184A_ENST00000521531.1_Nonsense_Mutation_p.Q842*|FAM184A_ENST00000352896.5_Nonsense_Mutation_p.Q722*|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	842						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GCCAATTCTTGATGATGATTA	0.388																																																	0													98.0	92.0	94.0					6																	119297141		1872	4115	5987	SO:0001587	stop_gained	79632			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2524C>T	6.37:g.119297141G>A	ENSP00000342604:p.Gln842*		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Nonsense_Mutation	SNP	superfamily_Prefoldin	p.Q842*	ENST00000338891.7	37	c.2524	CCDS43499.1	6	.	.	.	.	.	.	.	.	.	.	G	44	10.646074	0.99443	.	.	ENSG00000111879	ENST00000521043;ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531	.	.	.	5.21	5.21	0.72293	.	0.126644	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-16.0815	18.7445	0.91787	0.0:0.0:1.0:0.0	.	.	.	.	X	5;842;722;722;842	.	ENSP00000342604:Q842X	Q	-	1	0	FAM184A	119338840	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	4.757000	0.62213	2.437000	0.82529	0.563000	0.77884	CAA	FAM184A	-	NULL		0.388	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184A	HGNC	protein_coding	OTTHUMT00000042009.3	G	NM_024581		119297141	-1	no_errors	ENST00000338891	ensembl	human	known	70_37	nonsense	SNP	0.939	A
FAM81B	153643	genome.wustl.edu	37	5	94764306	94764306	+	Splice_Site	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:94764306G>C	ENST00000283357.5	+	6	702		c.e6-1			NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B							nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		CTTGCCATTAGATGTGATTCA	0.403																																																	0													121.0	114.0	116.0					5																	94764306		1864	4095	5959	SO:0001630	splice_region_variant	153643				CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.657-1G>C	5.37:g.94764306G>C				Splice_Site	SNP	-	e6-1	ENST00000283357.5	37	c.657-1	CCDS43341.1	5	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681919	0.68042	.	.	ENSG00000153347	ENST00000283357	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9772	0.92742	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM81B	94790062	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	5.789000	0.69029	2.780000	0.95670	0.655000	0.94253	.	FAM81B	-	-		0.403	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM81B	HGNC	protein_coding	OTTHUMT00000370690.1	G	NM_152548	Intron	94764306	+1	no_errors	ENST00000283357	ensembl	human	known	70_37	splice_site	SNP	1.000	C
FAM83C	128876	genome.wustl.edu	37	20	33875489	33875489	+	Missense_Mutation	SNP	G	G	C	rs373959129		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr20:33875489G>C	ENST00000374408.3	-	4	1189	c.1093C>G	c.(1093-1095)Cta>Gta	p.L365V	EIF6_ENST00000374443.3_5'Flank|EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374450.3_5'Flank|EIF6_ENST00000374436.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	365										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCTCCTGGTAGAGCGAGGTAG	0.642																																																	0													141.0	111.0	121.0					20																	33875489		2203	4300	6503	SO:0001583	missense	128876			AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1093C>G	20.37:g.33875489G>C	ENSP00000363529:p.Leu365Val		Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	pfam_DUF1669	p.L365V	ENST00000374408.3	37	c.1093	CCDS13251.1	20	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983210	0.35036	.	.	ENSG00000125998	ENST00000374408	T	0.08370	3.1	5.05	4.09	0.47781	.	0.461984	0.16105	N	0.229361	T	0.07593	0.0191	L	0.55213	1.73	0.09310	N	1	P	0.37466	0.596	B	0.30029	0.11	T	0.25222	-1.0138	10	0.17369	T	0.5	-25.1962	10.6125	0.45429	0.0899:0.0:0.9101:0.0	.	365	Q9BQN1	FA83C_HUMAN	V	365	ENSP00000363529:L365V	ENSP00000363529:L365V	L	-	1	2	FAM83C	33338903	0.049000	0.20398	0.930000	0.37139	0.941000	0.58515	1.397000	0.34543	2.519000	0.84933	0.561000	0.74099	CTA	FAM83C	-	NULL		0.642	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83C	HGNC	protein_coding	OTTHUMT00000078854.3	G			33875489	-1	no_errors	ENST00000374408	ensembl	human	known	70_37	missense	SNP	0.190	C
FAM86JP	100125556	genome.wustl.edu	37	3	125635572	125635572	+	RNA	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:125635572G>C	ENST00000485843.1	+	0	100					NR_024251.1				family with sequence similarity 86, member J, pseudogene																		GGTGGGCGGCGGGGCGAGCGG	0.726																																																	0																																												100125556					3q21.2	2012-06-28			ENSG00000171084	ENSG00000171084			44097	pseudogene	pseudogene							Standard	NR_024250		Approved		uc003eif.4		OTTHUMG00000159586		3.37:g.125635572G>C				RNA	SNP	-	NULL	ENST00000485843.1	37	NULL		3																																																																																			FAM86JP	-	-		0.726	FAM86JP-004	KNOWN	basic	processed_transcript	FAM86JP	HGNC	pseudogene	OTTHUMT00000356339.1	G	NR_024251		125635572	+1	no_errors	ENST00000485843	ensembl	human	known	70_37	rna	SNP	0.025	C
FAS	355	genome.wustl.edu	37	10	90773980	90773980	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:90773980G>A	ENST00000355740.2	+	9	1001	c.781G>A	c.(781-783)Gag>Aag	p.E261K	FAS_ENST00000352159.4_3'UTR|RP11-399O19.9_ENST00000562983.1_RNA|FAS_ENST00000357339.2_Missense_Mutation_p.E240K|FAS_ENST00000355279.2_3'UTR	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P49327	FAS_HUMAN	Fas cell surface death receptor	0	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	CAAAATAGATGAGATCAAGAA	0.378																																																	0													125.0	116.0	119.0					10																	90773980		2203	4300	6503	SO:0001583	missense	355			M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11920	protein-coding gene	gene with protein product	"""TNF receptor superfamily member 6"""	134637	"""tumor necrosis factor receptor superfamily, member 6"", ""Fas (TNF receptor superfamily, member 6)"""	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355740.2:c.781G>A	10.37:g.90773980G>A	ENSP00000347979:p.Glu261Lys		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	pfam_Death,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_Fas_rcpt	p.E261K	ENST00000355740.2	37	c.781	CCDS7393.1	10	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369578	0.82463	.	.	ENSG00000026103	ENST00000540197;ENST00000355740;ENST00000357339	D;D	0.94184	-3.37;-3.37	4.65	3.66	0.41972	Death (3);DEATH-like (2);	0.795670	0.11554	N	0.552457	D	0.95452	0.8523	M	0.79926	2.475	0.80722	D	1	D;D	0.69078	0.997;0.995	P;P	0.59056	0.851;0.845	D	0.93684	0.7001	10	0.46703	T	0.11	-22.8945	10.006	0.41957	0.0:0.2055:0.7944:0.0	.	240;261	P25445-6;P25445	.;TNR6_HUMAN	K	288;261;240	ENSP00000347979:E261K;ENSP00000349896:E240K	ENSP00000347979:E261K	E	+	1	0	FAS	90763960	0.868000	0.29978	1.000000	0.80357	0.993000	0.82548	2.005000	0.40864	2.523000	0.85059	0.650000	0.86243	GAG	FAS	-	pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death		0.378	FAS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FAS	HGNC	protein_coding	OTTHUMT00000049274.3	G			90773980	+1	no_errors	ENST00000355740	ensembl	human	known	70_37	missense	SNP	1.000	A
FAT3	120114	genome.wustl.edu	37	11	92616455	92616455	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:92616455G>A	ENST00000298047.6	+	23	12850	c.12833G>A	c.(12832-12834)cGg>cAg	p.R4278Q	FAT3_ENST00000533797.1_Missense_Mutation_p.R613Q|FAT3_ENST00000525166.1_Missense_Mutation_p.R4128Q|FAT3_ENST00000409404.2_Missense_Mutation_p.R4278Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4278					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACAGCCCGGCGGGGCGTGGTC	0.662										TCGA Ovarian(4;0.039)																																							0													41.0	50.0	47.0					11																	92616455		2092	4197	6289	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12833G>A	11.37:g.92616455G>A	ENSP00000298047:p.Arg4278Gln		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R4278Q	ENST00000298047.6	37	c.12833		11	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005304	0.93287	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.87334	-0.88;-0.9;-0.88;-2.24	5.85	5.85	0.93711	.	.	.	.	.	D	0.92489	0.7615	M	0.72894	2.215	0.80722	D	1	D;B	0.89917	1.0;0.004	D;B	0.85130	0.997;0.007	D	0.88220	0.2896	9	0.10377	T	0.69	.	20.161	0.98133	0.0:0.0:1.0:0.0	.	4278;4278	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	Q	4278;4278;4128;613	ENSP00000298047:R4278Q;ENSP00000387040:R4278Q;ENSP00000432586:R4128Q;ENSP00000436399:R613Q	ENSP00000298047:R4278Q	R	+	2	0	FAT3	92256103	1.000000	0.71417	0.937000	0.37676	0.996000	0.88848	7.666000	0.83877	2.770000	0.95276	0.655000	0.94253	CGG	FAT3	-	NULL		0.662	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		G	NM_001008781		92616455	+1	no_errors	ENST00000298047	ensembl	human	known	70_37	missense	SNP	1.000	A
FBXW12	285231	genome.wustl.edu	37	3	48415040	48415040	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:48415040C>T	ENST00000296438.5	+	4	317	c.131C>T	c.(130-132)tCa>tTa	p.S44L	FBXW12_ENST00000445170.1_Missense_Mutation_p.S25L|FBXW12_ENST00000436231.1_Intron|FBXW12_ENST00000415155.1_Missense_Mutation_p.S44L	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	44	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.									breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTTTCCAGGTCACTATCTCTG	0.493																																																	0													82.0	83.0	82.0					3																	48415040		2203	4300	6503	SO:0001583	missense	285231			AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	20729	protein-coding gene	gene with protein product		609075	"""F-box only protein 35"", ""F-box and WD-40 domain protein 12"""	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.131C>T	3.37:g.48415040C>T	ENSP00000296438:p.Ser44Leu		E9PG36|Q494Y9|Q494Z0	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_Quino_amine_DH_bsu,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.S44L	ENST00000296438.5	37	c.131	CCDS2764.1	3	.	.	.	.	.	.	.	.	.	.	C	9.138	1.013139	0.19277	.	.	ENSG00000164049	ENST00000296438;ENST00000445170;ENST00000415155	T;T;T	0.44083	0.93;2.01;0.93	3.16	-6.33	0.01988	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	1.144270	0.06600	N	0.753676	T	0.21387	0.0515	N	0.20986	0.625	0.09310	N	1	B;B;B	0.19445	0.029;0.036;0.036	B;B;B	0.16722	0.009;0.016;0.011	T	0.19353	-1.0308	10	0.62326	D	0.03	-1.9937	0.1007	0.00048	0.3218:0.2234:0.2107:0.2441	.	25;44;44	E9PG36;Q494Z0;Q6X9E4	.;.;FBW12_HUMAN	L	44;25;44	ENSP00000296438:S44L;ENSP00000406139:S25L;ENSP00000414683:S44L	ENSP00000296438:S44L	S	+	2	0	FBXW12	48390044	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.409000	0.02483	-2.025000	0.00935	-0.259000	0.10710	TCA	FBXW12	-	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like		0.493	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXW12	HGNC	protein_coding	OTTHUMT00000257505.1	C	NM_207102		48415040	+1	no_errors	ENST00000296438	ensembl	human	known	70_37	missense	SNP	0.000	T
FCGBP	8857	genome.wustl.edu	37	19	40382372	40382372	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:40382372C>G	ENST00000221347.6	-	22	10521	c.10514G>C	c.(10513-10515)gGa>gCa	p.G3505A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3505						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACAGAGGCCTCCAGGATGGCC	0.706																																																	0													5.0	7.0	6.0					19																	40382372		740	2015	2755	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.10514G>C	19.37:g.40382372C>G	ENSP00000221347:p.Gly3505Ala		O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.G3505A	ENST00000221347.6	37	c.10514	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	C	10.80	1.452072	0.26074	.	.	ENSG00000090920	ENST00000221347	T	0.75477	-0.94	2.5	1.36	0.22044	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.69584	0.3127	L	0.28115	0.83	0.09310	N	1	B	0.33379	0.41	P	0.51016	0.656	T	0.59516	-0.7440	9	0.10111	T	0.7	.	8.2873	0.31937	0.0:0.5153:0.4847:0.0	.	3505	Q9Y6R7	FCGBP_HUMAN	A	3505	ENSP00000221347:G3505A	ENSP00000221347:G3505A	G	-	2	0	FCGBP	45074212	0.000000	0.05858	0.017000	0.16124	0.821000	0.46438	-0.049000	0.11924	0.347000	0.23924	0.194000	0.17425	GGA	FCGBP	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich		0.706	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	C	NM_003890		40382372	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	missense	SNP	0.004	G
FEM1B	10116	genome.wustl.edu	37	15	68582061	68582061	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:68582061C>T	ENST00000306917.4	+	2	980	c.365C>T	c.(364-366)tCa>tTa	p.S122L		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	122					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GTAACTAATTCAACCCCCCTG	0.458																																																	0													90.0	76.0	81.0					15																	68582061		2200	4298	6498	SO:0001583	missense	10116				CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"""Ankyrin repeat domain containing"""	3649	protein-coding gene	gene with protein product		613539	"""FEM-1 (C. elegans) homolog b"""			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.365C>T	15.37:g.68582061C>T	ENSP00000307298:p.Ser122Leu		O43146	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S122L	ENST00000306917.4	37	c.365	CCDS10228.1	15	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204516	0.79127	.	.	ENSG00000169018	ENST00000306917	T	0.65916	-0.18	5.67	5.67	0.87782	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.62502	0.2433	N	0.11154	0.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.58375	-0.7647	10	0.11485	T	0.65	0.4858	18.754	0.91825	0.0:1.0:0.0:0.0	.	122	Q9UK73	FEM1B_HUMAN	L	122	ENSP00000307298:S122L	ENSP00000307298:S122L	S	+	2	0	FEM1B	66369115	1.000000	0.71417	0.942000	0.38095	0.922000	0.55478	7.793000	0.85851	2.661000	0.90470	0.555000	0.69702	TCA	FEM1B	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.458	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1B	HGNC	protein_coding	OTTHUMT00000257065.1	C			68582061	+1	no_errors	ENST00000306917	ensembl	human	known	70_37	missense	SNP	1.000	T
FGD3	89846	genome.wustl.edu	37	9	95795112	95795112	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr9:95795112G>A	ENST00000375482.3	+	16	2238	c.1742G>A	c.(1741-1743)aGa>aAa	p.R581K	FGD3_ENST00000538555.1_Missense_Mutation_p.R184K|FGD3_ENST00000416701.2_Missense_Mutation_p.R581K|FGD3_ENST00000337352.6_Missense_Mutation_p.R581K	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	581					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CGTGTCTGCAGAGATTGTTTC	0.642																																																	0													99.0	111.0	107.0					9																	95795112		2069	4198	6267	SO:0001583	missense	89846			AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16027	protein-coding gene	gene with protein product			"""FGD1 family, member 3"""			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.1742G>A	9.37:g.95795112G>A	ENSP00000364631:p.Arg581Lys		F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.R581K	ENST00000375482.3	37	c.1742	CCDS43849.1	9	.	.	.	.	.	.	.	.	.	.	G	0.109	-1.141514	0.01728	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352;ENST00000538555	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	4.54	1.05	0.20165	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.211461	0.23744	N	0.044995	T	0.40119	0.1104	N	0.11560	0.145	0.23496	N	0.997553	B;B	0.15141	0.012;0.0	B;B	0.14023	0.006;0.01	T	0.30001	-0.9993	10	0.02654	T	1	.	5.6924	0.17837	0.5366:0.0:0.4634:0.0	.	581;581	F8W7P2;Q5JSP0	.;FGD3_HUMAN	K	581;581;581;184	ENSP00000364631:R581K;ENSP00000413833:R581K;ENSP00000336914:R581K;ENSP00000442560:R184K	ENSP00000336914:R581K	R	+	2	0	FGD3	94834933	1.000000	0.71417	0.212000	0.23672	0.289000	0.27227	1.707000	0.37888	0.436000	0.26393	0.561000	0.74099	AGA	FGD3	-	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel		0.642	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGD3	HGNC	protein_coding	OTTHUMT00000055493.1	G	NM_033086		95795112	+1	no_errors	ENST00000337352	ensembl	human	known	70_37	missense	SNP	0.738	A
FILIP1	27145	genome.wustl.edu	37	6	76072464	76072464	+	Nonsense_Mutation	SNP	G	G	T	rs139907750		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:76072464G>T	ENST00000237172.7	-	3	776	c.446C>A	c.(445-447)tCa>tAa	p.S149*	RP11-415D17.3_ENST00000440220.1_RNA|FILIP1_ENST00000370020.1_Nonsense_Mutation_p.S50*|RP11-415D17.3_ENST00000415457.2_RNA|RP11-415D17.3_ENST00000609544.1_RNA|FILIP1_ENST00000393004.2_Nonsense_Mutation_p.S149*|RP11-415D17.3_ENST00000591821.2_RNA|RP11-415D17.3_ENST00000419709.1_RNA|RP11-415D17.3_ENST00000588761.1_RNA	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	149								p.S149*(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTTTACCTCTGAAATCGGTTT	0.463																																																	1	Substitution - Nonsense(1)	skin(1)											77.0	76.0	77.0					6																	76072464		2203	4300	6503	SO:0001587	stop_gained	27145			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.446C>A	6.37:g.76072464G>T	ENSP00000237172:p.Ser149*		B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Nonsense_Mutation	SNP	pfam_Cortactin-binding_p2_N,prints_Tropomyosin	p.S149*	ENST00000237172.7	37	c.446	CCDS4984.1	6	.	.	.	.	.	.	.	.	.	.	G	37	6.610900	0.97705	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	.	.	.	5.99	5.99	0.97316	.	0.067401	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5211	20.4777	0.99188	0.0:0.0:1.0:0.0	.	.	.	.	X	149;149;50	.	ENSP00000237172:S149X	S	-	2	0	FILIP1	76129184	1.000000	0.71417	1.000000	0.80357	0.352000	0.29268	5.675000	0.68123	2.840000	0.97914	0.655000	0.94253	TCA	FILIP1	-	pfam_Cortactin-binding_p2_N		0.463	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FILIP1	HGNC	protein_coding	OTTHUMT00000041263.1	G	XM_029179		76072464	-1	no_errors	ENST00000237172	ensembl	human	known	70_37	nonsense	SNP	1.000	T
FLNC	2318	genome.wustl.edu	37	7	128498202	128498202	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:128498202C>T	ENST00000325888.8	+	47	8182	c.7921C>T	c.(7921-7923)Cgg>Tgg	p.R2641W	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.R2608W	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2641	Interaction with INPPL1.|Self-association site, tail. {ECO:0000250}.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGTGGTGACTCGGGGCCCTGG	0.652																																																	0													21.0	23.0	23.0					7																	128498202		2042	4146	6188	SO:0001583	missense	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.7921C>T	7.37:g.128498202C>T	ENSP00000327145:p.Arg2641Trp		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.R2641W	ENST00000325888.8	37	c.7921	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236341	0.58886	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84873	-1.91;-1.91	5.07	2.79	0.32731	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.056530	0.64402	D	0.000010	D	0.90848	0.7125	M	0.76328	2.33	0.43088	D	0.994758	D;D	0.89917	0.999;1.0	D;D	0.67725	0.924;0.953	D	0.92003	0.5612	10	0.87932	D	0	.	14.4785	0.67564	0.3698:0.6302:0.0:0.0	.	2608;2641	Q14315-2;Q14315	.;FLNC_HUMAN	W	2641;2608	ENSP00000327145:R2641W;ENSP00000344002:R2608W	ENSP00000327145:R2641W	R	+	1	2	FLNC	128285438	0.004000	0.15560	0.946000	0.38457	0.970000	0.65996	0.084000	0.14891	0.896000	0.36366	0.557000	0.71058	CGG	FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.652	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	C			128498202	+1	no_errors	ENST00000325888	ensembl	human	known	70_37	missense	SNP	0.923	T
FMR1	2332	genome.wustl.edu	37	X	147027065	147027065	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:147027065C>T	ENST00000370475.4	+	16	1794	c.1666C>T	c.(1666-1668)Cac>Tac	p.H556Y	FMR1-IT1_ENST00000441414.1_RNA|FMR1_ENST00000370470.1_Missense_Mutation_p.H531Y|FMR1_ENST00000440235.2_Missense_Mutation_p.H203Y|FMR1_ENST00000439526.2_Missense_Mutation_p.H533Y|FMR1_ENST00000370471.3_Silent_p.I465I|FMR1_ENST00000370477.1_Missense_Mutation_p.H523Y|FMR1_ENST00000218200.8_Missense_Mutation_p.H535Y	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	556	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AAACGACGATCACTCCCGAAC	0.398									Fragile X syndrome																																								0													114.0	97.0	103.0					X																	147027065		2203	4300	6503	SO:0001583	missense	2332	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1666C>T	X.37:g.147027065C>T	ENSP00000359506:p.His556Tyr		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1	p.H556Y	ENST00000370475.4	37	c.1666	CCDS14682.1	X	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328758	0.60743	.	.	ENSG00000102081	ENST00000218200;ENST00000370477;ENST00000370475;ENST00000439526;ENST00000370470;ENST00000440235	T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51	5.27	5.27	0.74061	.	0.323364	0.38663	N	0.001617	T	0.31295	0.0792	.	.	.	0.48762	D	0.999708	P;B;B;B;B	0.34757	0.467;0.403;0.403;0.305;0.077	B;B;B;B;B	0.41646	0.187;0.26;0.362;0.122;0.058	T	0.04440	-1.0951	9	0.18710	T	0.47	-34.0151	16.9306	0.86189	0.0:1.0:0.0:0.0	.	203;556;451;510;533	F8W871;Q06787;Q59GC1;Q06787-8;G3V0J0	.;FMR1_HUMAN;.;.;.	Y	535;523;556;533;531;203	ENSP00000218200:H535Y;ENSP00000359508:H523Y;ENSP00000359506:H556Y;ENSP00000395923:H533Y;ENSP00000359501:H531Y;ENSP00000413764:H203Y	ENSP00000218200:H535Y	H	+	1	0	FMR1	146834757	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.034000	0.64152	2.205000	0.71048	0.429000	0.28392	CAC	FMR1	-	pfam_Frag_X_MRP_fam		0.398	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMR1	HGNC	protein_coding	OTTHUMT00000058655.1	C	NM_002024		147027065	+1	no_errors	ENST00000370475	ensembl	human	known	70_37	missense	SNP	1.000	T
FOXD4	2298	genome.wustl.edu	37	9	117186	117186	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr9:117186G>A	ENST00000382500.2	-	1	1231	c.934C>T	c.(934-936)Cgc>Tgc	p.R312C		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	312					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TCCCGGTGGCGACGCCAGACC	0.652																																																	0													9.0	12.0	11.0					9																	117186		1899	3930	5829	SO:0001583	missense	2298			U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.934C>T	9.37:g.117186G>A	ENSP00000371940:p.Arg312Cys		B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.R312C	ENST00000382500.2	37	c.934	CCDS34975.1	9	.	.	.	.	.	.	.	.	.	.	.	11.73	1.724625	0.30593	.	.	ENSG00000170122	ENST00000382500	D	0.95171	-3.63	2.41	2.41	0.29592	.	4.590720	0.01135	U	0.006075	D	0.89663	0.6780	N	0.19112	0.55	0.09310	N	1	B	0.30033	0.266	B	0.17433	0.018	T	0.80979	-0.1140	10	0.48119	T	0.1	.	10.568	0.45184	0.0:0.0:1.0:0.0	.	312	Q12950	FOXD4_HUMAN	C	312	ENSP00000371940:R312C	ENSP00000371940:R312C	R	-	1	0	FOXD4	107186	0.387000	0.25188	0.017000	0.16124	0.014000	0.08584	1.526000	0.35964	1.347000	0.45714	0.473000	0.43528	CGC	FOXD4	-	NULL		0.652	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4	HGNC	protein_coding	OTTHUMT00000055433.1	G	NM_207305		117186	-1	no_errors	ENST00000382500	ensembl	human	known	70_37	missense	SNP	0.028	A
FRMD4A	55691	genome.wustl.edu	37	10	13852835	13852835	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:13852835C>T	ENST00000357447.2	-	4	553	c.185G>A	c.(184-186)gGa>gAa	p.G62E	FRMD4A_ENST00000378503.1_Missense_Mutation_p.G62E|FRMD4A_ENST00000358621.4_Missense_Mutation_p.G47E|FRMD4A_ENST00000342409.2_Missense_Mutation_p.G78E	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	62	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GAATGCTATTCCAAAGTACTC	0.493																																																	0													85.0	77.0	79.0					10																	13852835		2203	4300	6503	SO:0001583	missense	55691			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.185G>A	10.37:g.13852835C>T	ENSP00000350032:p.Gly62Glu		A7E2Y3|Q5T377	Missense_Mutation	SNP	pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.G62E	ENST00000357447.2	37	c.185	CCDS7101.1	10	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039991	0.75732	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546;ENST00000342409	D;D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36;-3.36	5.67	5.67	0.87782	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.98197	0.9404	H	0.97940	4.11	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	0.99383	1.0923	10	0.87932	D	0	-13.3478	18.5445	0.91042	0.0:1.0:0.0:0.0	.	78;95;62	Q5T378;Q5T376;Q9P2Q2	.;.;FRM4A_HUMAN	E	47;62;62;95;78	ENSP00000351438:G47E;ENSP00000350032:G62E;ENSP00000367764:G62E;ENSP00000264546:G95E;ENSP00000344237:G78E	ENSP00000264546:G95E	G	-	2	0	FRMD4A	13892841	1.000000	0.71417	0.997000	0.53966	0.233000	0.25261	7.468000	0.80943	2.677000	0.91161	0.655000	0.94253	GGA	FRMD4A	-	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam		0.493	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRMD4A	HGNC	protein_coding	OTTHUMT00000046889.1	C	NM_018027		13852835	-1	no_errors	ENST00000357447	ensembl	human	known	70_37	missense	SNP	1.000	T
FRMD4B	23150	genome.wustl.edu	37	3	69277540	69277540	+	Intron	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:69277540G>A	ENST00000398540.3	-	8	665				FRMD4B_ENST00000542259.1_Missense_Mutation_p.S137L	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B						establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CTGGGTAAGCGAGCTGAGAAA	0.408																																																	0																																										SO:0001627	intron_variant	23150			AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.582-3699C>T	3.37:g.69277540G>A			Q8TAI3	Missense_Mutation	SNP	pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.S137L	ENST00000398540.3	37	c.410	CCDS46863.1	3	.	.	.	.	.	.	.	.	.	.	G	3.261	-0.151163	0.06585	.	.	ENSG00000114541	ENST00000542259	T	0.76839	-1.05	2.02	-4.05	0.03998	.	35.977500	0.00575	U	0.000312	T	0.68595	0.3018	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.53215	-0.8470	7	0.87932	D	0	.	0.8689	0.01210	0.2171:0.2133:0.3783:0.1912	.	.	.	.	L	137	ENSP00000437658:S137L	ENSP00000437658:S137L	S	-	2	0	FRMD4B	69360230	0.000000	0.05858	0.000000	0.03702	0.171000	0.22731	-2.977000	0.00664	-4.601000	0.00040	-0.680000	0.03767	TCG	FRMD4B	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain		0.408	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD4B	HGNC	protein_coding	OTTHUMT00000352111.1	G			69277540	-1	no_errors	ENST00000542259	ensembl	human	known	70_37	missense	SNP	0.000	A
FSD2	123722	genome.wustl.edu	37	15	83438506	83438506	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:83438506C>T	ENST00000334574.8	-	8	1579	c.1398G>A	c.(1396-1398)atG>atA	p.M466I	FSD2_ENST00000541889.1_Intron			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	466	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						CATTACCTGTCATGTACACTG	0.507																																																	0													85.0	83.0	84.0					15																	83438506		1881	4116	5997	SO:0001583	missense	123722			AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"""Fibronectin type III domain containing"""	18024	protein-coding gene	gene with protein product			"""SPRY domain containing 1"""	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.1398G>A	15.37:g.83438506C>T	ENSP00000335651:p.Met466Ile		B3KVG1|B7ZM02	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin	p.M466I	ENST00000334574.8	37	c.1398	CCDS45332.1	15	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258947	0.39896	.	.	ENSG00000186628	ENST00000334574	T	0.52057	0.68	5.82	4.9	0.64082	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.197444	0.56097	D	0.000030	T	0.43433	0.1247	L	0.57536	1.79	0.80722	D	1	B	0.14012	0.009	B	0.09377	0.004	T	0.37549	-0.9701	10	0.51188	T	0.08	-29.8759	10.2608	0.43425	0.0:0.8343:0.0:0.1657	.	466	A1L4K1	FSD2_HUMAN	I	466	ENSP00000335651:M466I	ENSP00000335651:M466I	M	-	3	0	FSD2	81235560	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	3.259000	0.51515	1.462000	0.47948	0.561000	0.74099	ATG	FSD2	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.507	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FSD2	HGNC	protein_coding	OTTHUMT00000418385.1	C	NM_001007122		83438506	-1	no_errors	ENST00000334574	ensembl	human	known	70_37	missense	SNP	1.000	T
GAD1	2571	genome.wustl.edu	37	2	171702126	171702126	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:171702126G>A	ENST00000358196.3	+	8	1412	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	288					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						CTTCACCTCAGAACAGGTGAG	0.488																																																	0													95.0	96.0	96.0					2																	171702126		2203	4300	6503	SO:0001583	missense	2571				CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.862G>A	2.37:g.171702126G>A	ENSP00000350928:p.Glu288Lys		Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom	p.E288K	ENST00000358196.3	37	c.862	CCDS2239.1	2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159238	0.78226	.	.	ENSG00000128683	ENST00000358196	T	0.38401	1.14	5.67	5.67	0.87782	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.53318	0.1789	L	0.55017	1.72	0.80722	D	1	D	0.62365	0.991	P	0.59115	0.852	T	0.43782	-0.9370	10	0.39692	T	0.17	-17.8126	19.7657	0.96340	0.0:0.0:1.0:0.0	.	288	Q99259	DCE1_HUMAN	K	288	ENSP00000350928:E288K	ENSP00000350928:E288K	E	+	1	0	GAD1	171410372	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	9.476000	0.97823	2.649000	0.89929	0.655000	0.94253	GAA	GAD1	-	pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom		0.488	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAD1	HGNC	protein_coding	OTTHUMT00000102664.2	G			171702126	+1	no_errors	ENST00000358196	ensembl	human	known	70_37	missense	SNP	1.000	A
GAS2L3	283431	genome.wustl.edu	37	12	101017746	101017746	+	Nonsense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr12:101017746C>G	ENST00000539410.1	+	9	1549	c.1163C>G	c.(1162-1164)tCa>tGa	p.S388*	GAS2L3_ENST00000266754.5_Nonsense_Mutation_p.S388*|GAS2L3_ENST00000537247.1_Nonsense_Mutation_p.S284*|GAS2L3_ENST00000547754.1_Nonsense_Mutation_p.S388*			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	388					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CTCAAGTCTTCAAAAGGCATA	0.428																																																	0													95.0	96.0	96.0					12																	101017746		2203	4300	6503	SO:0001587	stop_gained	283431			AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.1163C>G	12.37:g.101017746C>G	ENSP00000439672:p.Ser388*		B2RCN2	Nonsense_Mutation	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.S388*	ENST00000539410.1	37	c.1163	CCDS9079.1	12	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126505	0.37533	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	.	.	.	5.8	2.89	0.33648	.	0.710683	0.13250	N	0.402124	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-8.7975	0.6565	0.00835	0.1855:0.373:0.1807:0.2609	.	.	.	.	X	388;388;284;388	.	ENSP00000266754:S388X	S	+	2	0	GAS2L3	99541877	0.026000	0.19158	0.359000	0.25824	0.042000	0.13812	0.096000	0.15147	0.738000	0.32606	0.650000	0.86243	TCA	GAS2L3	-	NULL		0.428	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L3	HGNC	protein_coding	OTTHUMT00000409143.1	C	NM_174942		101017746	+1	no_errors	ENST00000266754	ensembl	human	known	70_37	nonsense	SNP	0.026	G
GCC1	79571	genome.wustl.edu	37	7	127223154	127223154	+	Missense_Mutation	SNP	G	G	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:127223154G>T	ENST00000321407.2	-	2	1666	c.1242C>A	c.(1240-1242)agC>agA	p.S414R	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	414					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AAGGGGACCTGCTGGAGGCTG	0.547																																																	0													77.0	77.0	77.0					7																	127223154		2203	4300	6503	SO:0001583	missense	79571			AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1242C>A	7.37:g.127223154G>T	ENSP00000318821:p.Ser414Arg		Q9H6N7	Missense_Mutation	SNP	pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP	p.S414R	ENST00000321407.2	37	c.1242	CCDS5796.1	7	.	.	.	.	.	.	.	.	.	.	G	12.65	2.002480	0.35320	.	.	ENSG00000179562	ENST00000321407	T	0.13307	2.6	5.12	3.28	0.37604	.	0.123559	0.85682	D	0.000000	T	0.17365	0.0417	L	0.56769	1.78	0.50632	D	0.999882	D	0.56035	0.974	P	0.49140	0.601	T	0.07868	-1.0750	10	0.15499	T	0.54	-14.0154	10.1167	0.42596	0.1752:0.0:0.8248:0.0	.	414	Q96CN9	GCC1_HUMAN	R	414	ENSP00000318821:S414R	ENSP00000318821:S414R	S	-	3	2	GCC1	127010390	1.000000	0.71417	0.997000	0.53966	0.474000	0.32979	2.365000	0.44196	1.291000	0.44653	0.655000	0.94253	AGC	GCC1	-	NULL		0.547	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC1	HGNC	protein_coding	OTTHUMT00000059911.3	G	NM_024523		127223154	-1	no_errors	ENST00000321407	ensembl	human	known	70_37	missense	SNP	1.000	T
GEMIN4	50628	genome.wustl.edu	37	17	648334	648334	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:648334G>A	ENST00000319004.5	-	2	3067	c.2949C>T	c.(2947-2949)ttC>ttT	p.F983F	GEMIN4_ENST00000576778.1_Silent_p.F972F	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	983					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)		p.F983L(2)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GAGCATGGCAGAACACCTGGG	0.562																																																	2	Substitution - Missense(2)	cervix(2)											37.0	39.0	38.0					17																	648334		2012	4181	6193	SO:0001819	synonymous_variant	50628			AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.2949C>T	17.37:g.648334G>A			Q9NZS7|Q9UG32|Q9Y4Q2	Silent	SNP	NULL	p.F983	ENST00000319004.5	37	c.2949	CCDS45559.1	17																																																																																			GEMIN4	-	NULL		0.562	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN4	HGNC	protein_coding	OTTHUMT00000437181.1	G	NM_015721		648334	-1	no_errors	ENST00000319004	ensembl	human	known	70_37	silent	SNP	1.000	A
GGA1	26088	genome.wustl.edu	37	22	38021921	38021921	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr22:38021921C>T	ENST00000343632.4	+	11	1444	c.1058C>T	c.(1057-1059)tCa>tTa	p.S353L	GGA1_ENST00000406772.1_Missense_Mutation_p.S280L|GGA1_ENST00000325180.8_Intron|GGA1_ENST00000381756.5_Missense_Mutation_p.S370L|GGA1_ENST00000337437.4_Missense_Mutation_p.S320L	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	353	Unstructured hinge.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					CCCAGTGCCTCAGTTTCCCTG	0.677																																																	0													63.0	60.0	61.0					22																	38021921		2203	4300	6503	SO:0001583	missense	26088			AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.1058C>T	22.37:g.38021921C>T	ENSP00000341344:p.Ser353Leu		A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS	p.S353L	ENST00000343632.4	37	c.1058	CCDS13951.1	22	.	.	.	.	.	.	.	.	.	.	c	20.6	4.025833	0.75390	.	.	ENSG00000100083	ENST00000343632;ENST00000381756;ENST00000337437;ENST00000406772	T;T;T;T	0.34472	2.38;2.09;1.36;1.36	4.33	4.33	0.51752	.	0.634241	0.15998	N	0.234496	T	0.38957	0.1060	M	0.61703	1.905	0.80722	D	1	B;B	0.25441	0.126;0.042	B;B	0.23852	0.033;0.049	T	0.26883	-1.0090	10	0.33141	T	0.24	-5.1643	17.0278	0.86452	0.0:1.0:0.0:0.0	.	370;353	Q6IC75;Q9UJY5	.;GGA1_HUMAN	L	353;370;320;280	ENSP00000341344:S353L;ENSP00000371175:S370L;ENSP00000338647:S320L;ENSP00000385287:S280L	ENSP00000338647:S320L	S	+	2	0	GGA1	36351867	0.523000	0.26274	0.935000	0.37517	0.980000	0.70556	1.650000	0.37292	2.258000	0.74832	0.558000	0.71614	TCA	GGA1	-	NULL		0.677	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA1	HGNC	protein_coding	OTTHUMT00000075873.3	C	NM_013365		38021921	+1	no_errors	ENST00000343632	ensembl	human	known	70_37	missense	SNP	1.000	T
GJB3	2707	genome.wustl.edu	37	1	35250432	35250432	+	Silent	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:35250432C>T	ENST00000373366.2	+	2	684	c.69C>T	c.(67-69)atC>atT	p.I23I	GJB3_ENST00000373362.3_Silent_p.I23I|RP1-34M23.5_ENST00000542839.1_RNA	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	23					cell communication (GO:0007154)|in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|sensory perception of sound (GO:0007605)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	connexon complex (GO:0005922)|cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TCGGGCGCATCTGGCTGTCCG	0.617																																																	0													157.0	116.0	130.0					1																	35250432		2203	4300	6503	SO:0001819	synonymous_variant	2707			BC012918	CCDS384.1	1p34	2008-05-14	2007-01-16		ENSG00000188910	ENSG00000188910		"""Ion channels / Gap junction proteins (connexins)"""	4285	protein-coding gene	gene with protein product	"""connexin 31"""	603324	"""gap junction protein, beta 3, 31kD (connexin 31)"", ""gap junction protein, beta 3, 31kDa (connexin 31)"", ""erythrokeratodermia variabilis"""	DFNA2, EKV		9843210, 9704026	Standard	NM_024009		Approved	CX31	uc001bxy.3	O75712	OTTHUMG00000004051	ENST00000373366.2:c.69C>T	1.37:g.35250432C>T			B2R790|Q2TAZ8	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin31	p.I23	ENST00000373366.2	37	c.69	CCDS384.1	1																																																																																			GJB3	-	pfam_Connexin_N,prints_Connexin		0.617	GJB3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GJB3	HGNC	protein_coding	OTTHUMT00000011559.1	C	NM_024009		35250432	+1	no_errors	ENST00000373362	ensembl	human	known	70_37	silent	SNP	1.000	T
GLS2	27165	genome.wustl.edu	37	12	56872959	56872959	+	Silent	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr12:56872959C>G	ENST00000311966.4	-	4	689	c.411G>C	c.(409-411)gtG>gtC	p.V137V	GLS2_ENST00000539272.1_Intron|GLS2_ENST00000476991.1_5'Flank	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	137					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	TGTTGCTGCTCACACACCTGG	0.502																																																	0													70.0	61.0	64.0					12																	56872959		2203	4300	6503	SO:0001819	synonymous_variant	27165				CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"""Ankyrin repeat domain containing"""	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.411G>C	12.37:g.56872959C>G			B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Silent	SNP	pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase	p.V137	ENST00000311966.4	37	c.411	CCDS8921.1	12																																																																																			GLS2	-	NULL		0.502	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLS2	HGNC	protein_coding	OTTHUMT00000277113.1	C	NM_013267		56872959	-1	no_errors	ENST00000311966	ensembl	human	known	70_37	silent	SNP	1.000	G
GLIPR1L1	256710	genome.wustl.edu	37	12	75756946	75756946	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr12:75756946G>A	ENST00000378695.4	+	4	676	c.586G>A	c.(586-588)Gag>Aag	p.E196K	GLIPR1L1_ENST00000312442.2_Missense_Mutation_p.E196K|CAPS2_ENST00000442339.2_Intron			Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	196					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|sperm connecting piece (GO:0097224)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						CTCAAAAGAAGAGAAATGTGT	0.299																																																	0													43.0	42.0	42.0					12																	75756946		2202	4297	6499	SO:0001583	missense	256710			BC014603	CCDS9009.1	12q21.1	2014-06-03				ENSG00000173401			28392	protein-coding gene	gene with protein product		610395				12477932	Standard	NM_152779		Approved	MGC26856	uc001sxn.3	Q6UWM5	OTTHUMG00000169755	ENST00000378695.4:c.586G>A	12.37:g.75756946G>A	ENSP00000367967:p.Glu196Lys		Q96L06	Missense_Mutation	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen	p.E196K	ENST00000378695.4	37	c.586		12	.	.	.	.	.	.	.	.	.	.	G	9.684	1.150059	0.21371	.	.	ENSG00000173401	ENST00000378695;ENST00000312442	T;T	0.08008	3.15;3.14	3.56	2.63	0.31362	.	0.404227	0.23437	N	0.048199	T	0.06554	0.0168	N	0.22421	0.69	0.09310	N	1	B;P	0.37663	0.035;0.604	B;B	0.40066	0.045;0.318	T	0.30149	-0.9988	10	0.38643	T	0.18	.	8.8119	0.34971	0.0:0.2311:0.7689:0.0	.	196;196	Q6UWM5;Q6UWM5-2	GPRL1_HUMAN;.	K	196	ENSP00000367967:E196K;ENSP00000310770:E196K	ENSP00000310770:E196K	E	+	1	0	GLIPR1L1	74043213	0.021000	0.18746	0.005000	0.12908	0.042000	0.13812	1.832000	0.39151	1.046000	0.40249	0.655000	0.94253	GAG	GLIPR1L1	-	NULL		0.299	GLIPR1L1-002	KNOWN	basic|appris_candidate_longest	protein_coding	GLIPR1L1	HGNC	protein_coding	OTTHUMT00000405714.1	G	NM_152779		75756946	+1	no_errors	ENST00000378695	ensembl	human	known	70_37	missense	SNP	0.005	A
GNA13	10672	genome.wustl.edu	37	17	63052601	63052601	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:63052601G>T	ENST00000439174.2	-	1	356	c.111C>A	c.(109-111)tgC>tgA	p.C37*	GNA13_ENST00000541118.1_5'Flank	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	37					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						CCCGAGACAGGCATTTGTCGA	0.627																																																	0													137.0	127.0	130.0					17																	63052601		2203	4300	6503	SO:0001587	stop_gained	10672			L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.111C>A	17.37:g.63052601G>T	ENSP00000400717:p.Cys37*		B2R977|B7Z7R0|F5H1G8|Q8TD70	Nonsense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha12	p.C37*	ENST00000439174.2	37	c.111	CCDS11661.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.300082	0.97453	.	.	ENSG00000120063	ENST00000439174;ENST00000239138	.	.	.	3.69	0.254	0.15557	.	0.356526	0.26836	U	0.022241	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	6.4863	0.22091	0.1762:0.1468:0.677:0.0	.	.	.	.	X	37	.	ENSP00000239138:C37X	C	-	3	2	GNA13	60483063	1.000000	0.71417	0.999000	0.59377	0.665000	0.39181	1.129000	0.31381	0.064000	0.16427	0.313000	0.20887	TGC	GNA13	-	pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su		0.627	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA13	HGNC	protein_coding	OTTHUMT00000445720.1	G	NM_006572		63052601	-1	no_errors	ENST00000439174	ensembl	human	known	70_37	nonsense	SNP	0.883	T
GOLGA6L17P	642402	genome.wustl.edu	37	15	85053254	85053254	+	RNA	SNP	T	T	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:85053254T>C	ENST00000414190.2	-	0	198					NR_003246.2																						TACCAACAGCTTCTCCACTCA	0.577																																																	0																																												374650																															15.37:g.85053254T>C				RNA	SNP	-	NULL	ENST00000414190.2	37	NULL		15																																																																																			GOLGA6L5	-	-		0.577	GOLGA6L5-003	KNOWN	mRNA_end_NF|basic	processed_transcript	GOLGA6L5	HGNC	pseudogene	OTTHUMT00000418579.1	T			85053254	-1	no_errors	ENST00000414190	ensembl	human	known	70_37	rna	SNP	0.973	C
GOLGB1	2804	genome.wustl.edu	37	3	121416703	121416703	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:121416703C>G	ENST00000340645.5	-	13	2777	c.2652G>C	c.(2650-2652)gaG>gaC	p.E884D	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E889D	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	884					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTCTCTTTTTCTCTAGTAAGA	0.403																																																	0													161.0	166.0	164.0					3																	121416703		2203	4299	6502	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.2652G>C	3.37:g.121416703C>G	ENSP00000341848:p.Glu884Asp		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.E884D	ENST00000340645.5	37	c.2652	CCDS3004.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.86|11.86	1.763331|1.763331	0.31228|0.31228	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235|ENST00000489400	T;T;T|.	0.25579|.	2.38;2.38;1.79|.	5.35|5.35	4.48|4.48	0.54585|0.54585	.|.	0.000000|.	0.64402|.	D|.	0.000009|.	T|T	0.53981|0.53981	0.1830|0.1830	L|L	0.48362|0.48362	1.52|1.52	0.33411|0.33411	D|D	0.578585|0.578585	P;P;P;P;P|.	0.48503|.	0.675;0.782;0.911;0.604;0.554|.	B;B;B;B;B|.	0.42030|.	0.273;0.366;0.373;0.269;0.231|.	T|T	0.64050|0.64050	-0.6498|-0.6498	10|5	0.28530|.	T|.	0.3|.	.|.	11.8551|11.8551	0.52433|0.52433	0.0:0.9162:0.0:0.0838|0.0:0.9162:0.0:0.0838	.|.	809;848;889;889;884|.	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789|.	.;.;.;.;GOGB1_HUMAN|.	D|T	884;889;848;696|755	ENSP00000341848:E884D;ENSP00000377275:E889D;ENSP00000418231:E848D|.	ENSP00000341848:E884D|.	E|R	-|-	3|2	2|0	GOLGB1|GOLGB1	122899393|122899393	0.972000|0.972000	0.33761|0.33761	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	0.794000|0.794000	0.26958|0.26958	1.497000|1.497000	0.48584|0.48584	0.655000|0.655000	0.94253|0.94253	GAG|AGA	GOLGB1	-	NULL		0.403	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	C	NM_004487		121416703	-1	no_errors	ENST00000340645	ensembl	human	known	70_37	missense	SNP	0.974	G
GPR98	84059	genome.wustl.edu	37	5	90055300	90055300	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:90055300G>A	ENST00000405460.2	+	58	12111	c.12015G>A	c.(12013-12015)ttG>ttA	p.L4005L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4005	Calx-beta 26. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATATTTCCTTGATCAGTGTTG	0.373																																																	0													176.0	170.0	172.0					5																	90055300		2057	4214	6271	SO:0001819	synonymous_variant	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12015G>A	5.37:g.90055300G>A			O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.L4005	ENST00000405460.2	37	c.12015	CCDS47246.1	5																																																																																			GPR98	-	pfam_Calx_beta,smart_Calx_beta		0.373	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		90055300	+1	no_errors	ENST00000405460	ensembl	human	known	70_37	silent	SNP	0.173	A
GPRC5B	51704	genome.wustl.edu	37	16	19884105	19884105	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr16:19884105G>A	ENST00000300571.2	-	2	254	c.63C>T	c.(61-63)ttC>ttT	p.F21F	GPRC5B_ENST00000569479.1_Silent_p.F21F|GPRC5B_ENST00000537135.1_Silent_p.F47F|GPRC5B_ENST00000535671.1_Silent_p.F21F|GPRC5B_ENST00000569847.1_Silent_p.F21F	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	21					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGGTGATCACGAAGAGCAGGA	0.577																																																	0													56.0	55.0	55.0					16																	19884105		2197	4300	6497	SO:0001819	synonymous_variant	51704			AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.63C>T	16.37:g.19884105G>A			D2DFB0|O75205|Q8NBZ8	Silent	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.F47	ENST00000300571.2	37	c.141	CCDS10581.1	16																																																																																			GPRC5B	-	NULL		0.577	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5B	HGNC	protein_coding	OTTHUMT00000254285.1	G			19884105	-1	no_errors	ENST00000537135	ensembl	human	known	70_37	silent	SNP	0.074	A
GRK7	131890	genome.wustl.edu	37	3	141497720	141497720	+	Silent	SNP	G	G	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:141497720G>T	ENST00000264952.2	+	1	731	c.594G>T	c.(592-594)ggG>ggT	p.G198G		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	198	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						GAGTGCTGGGGAAAGGTGGTT	0.468																																																	0													85.0	85.0	85.0					3																	141497720		2203	4300	6503	SO:0001819	synonymous_variant	131890				CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.594G>T	3.37:g.141497720G>T				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.G198	ENST00000264952.2	37	c.594	CCDS3120.1	3																																																																																			GRK7	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.468	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK7	HGNC	protein_coding	OTTHUMT00000353168.1	G	NM_139209		141497720	+1	no_errors	ENST00000264952	ensembl	human	known	70_37	silent	SNP	0.136	T
GTF2E2	2961	genome.wustl.edu	37	8	30437888	30437888	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr8:30437888G>A	ENST00000355904.4	-	7	951	c.669C>T	c.(667-669)gtC>gtT	p.V223V		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	223					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIE complex (GO:0005673)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		AATCTACAGTGACACTCCTCC	0.383																																																	0													131.0	120.0	124.0					8																	30437888		2203	4300	6503	SO:0001819	synonymous_variant	2961			BC030572	CCDS6078.1	8p12	2010-03-23	2002-08-29		ENSG00000197265	ENSG00000197265		"""General transcription factors"""	4651	protein-coding gene	gene with protein product		189964	"""general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)"""			1956404	Standard	NM_002095		Approved	TFIIE-B, FE, TF2E2	uc003xig.3	P29084	OTTHUMG00000163934	ENST00000355904.4:c.669C>T	8.37:g.30437888G>A			D3DSV2|Q9H2B9	Silent	SNP	pfam_TFIIE_bsu_DNA-bd,pirsf_TFIIE-bsu	p.V223	ENST00000355904.4	37	c.669	CCDS6078.1	8																																																																																			GTF2E2	-	pirsf_TFIIE-bsu		0.383	GTF2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2E2	HGNC	protein_coding	OTTHUMT00000376459.2	G	NM_002095		30437888	-1	no_errors	ENST00000355904	ensembl	human	known	70_37	silent	SNP	1.000	A
GTF2H4	2968	genome.wustl.edu	37	6	30880141	30880141	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:30880141C>T	ENST00000259895.4	+	11	1218	c.995C>T	c.(994-996)tCt>tTt	p.S332F	VARS2_ENST00000541562.1_5'Flank|VARS2_ENST00000416670.2_5'Flank|VARS2_ENST00000321897.5_5'Flank|VARS2_ENST00000542001.1_5'Flank|GTF2H4_ENST00000376316.2_Missense_Mutation_p.S332F	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	332					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	ATP-dependent DNA helicase activity (GO:0004003)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						GCCCTCTTCTCTGAGATGCTC	0.597								Nucleotide excision repair (NER)																																									0													117.0	105.0	109.0					6																	30880141		1511	2709	4220	SO:0001583	missense	2968			Y07595	CCDS34386.1	6p21.3	2012-11-05	2002-08-29		ENSG00000213780	ENSG00000213780		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4658	protein-coding gene	gene with protein product		601760	"""general transcription factor IIH, polypeptide 4 (52kD subunit)"""			9118947	Standard	NM_001517		Approved	TFB2, TFIIH, P52	uc003nsa.1	Q92759	OTTHUMG00000031043	ENST00000259895.4:c.995C>T	6.37:g.30880141C>T	ENSP00000259895:p.Ser332Phe		B4DTJ5|Q76KU4	Missense_Mutation	SNP	pfam_Tfb2,tigrfam_Tfb2	p.S332F	ENST00000259895.4	37	c.995	CCDS34386.1	6	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513223	0.64522	.	.	ENSG00000213780	ENST00000259895;ENST00000376316	T;T	0.44083	0.93;0.93	5.2	5.2	0.72013	.	0.153499	0.42420	U	0.000707	T	0.58192	0.2105	M	0.77103	2.36	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.67103	0.949;0.949	T	0.63834	-0.6547	10	0.72032	D	0.01	-34.0447	16.2408	0.82408	0.0:1.0:0.0:0.0	.	338;332	B4DNU0;Q92759	.;TF2H4_HUMAN	F	332	ENSP00000259895:S332F;ENSP00000365493:S332F	ENSP00000259895:S332F	S	+	2	0	GTF2H4	30988120	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.716000	0.61916	2.442000	0.82660	0.591000	0.81541	TCT	GTF2H4	-	pfam_Tfb2,tigrfam_Tfb2		0.597	GTF2H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2H4	HGNC	protein_coding	OTTHUMT00000076044.3	C	NM_001517		30880141	+1	no_errors	ENST00000259895	ensembl	human	known	70_37	missense	SNP	1.000	T
GTF2IRD2	84163	genome.wustl.edu	37	7	74211261	74211261	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:74211261C>T	ENST00000405086.2	-	16	2779	c.2590G>A	c.(2590-2592)Gag>Aag	p.E864K	GTF2IRD2_ENST00000451013.2_Missense_Mutation_p.E411K	NM_173537.2	NP_775808	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	864					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						atctggagctcctcgtgcaca	0.498																																					NSCLC(40;560 1096 7501 40315 49546)												0													2.0	2.0	2.0					7																	74211261		896	1974	2870	SO:0001583	missense	84163			BC047706	CCDS5576.1, CCDS64682.1	7q11.23	2014-05-06			ENSG00000196275	ENSG00000196275			30775	protein-coding gene	gene with protein product	"""transcription factor GTF2IRD2"""	608899				15243160	Standard	NM_173537		Approved	FLJ37938, GTF2IRD2A	uc003ubd.1	Q86UP8	OTTHUMG00000181527	ENST00000405086.2:c.2590G>A	7.37:g.74211261C>T	ENSP00000385491:p.Glu864Lys		A8K5W6|B3KUZ2|Q69G40|Q6EKI8|Q6EKI9|Q6NVW2|Q6P7N8|Q86WX4|Q8ND85|Q8NDE5	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I	p.E864K	ENST00000405086.2	37	c.2590	CCDS5576.1	7	.	.	.	.	.	.	.	.	.	.	c	2.515	-0.312129	0.05422	.	.	ENSG00000196275	ENST00000405086;ENST00000451013	T;T	0.20200	2.09;2.09	1.84	1.84	0.25277	Ribonuclease H-like (1);	.	.	.	.	T	0.10981	0.0268	N	0.17723	0.515	0.80722	D	1	B	0.19200	0.034	B	0.17098	0.017	T	0.12243	-1.0555	9	0.15499	T	0.54	-7.3786	7.369	0.26790	0.0:1.0:0.0:0.0	.	864	Q86UP8	GTD2A_HUMAN	K	864;411	ENSP00000385491:E864K;ENSP00000406723:E411K	ENSP00000385491:E864K	E	-	1	0	GTF2IRD2	73849197	0.054000	0.20591	0.842000	0.33263	0.895000	0.52256	0.700000	0.25601	1.380000	0.46344	0.442000	0.29010	GAG	GTF2IRD2	-	superfamily_RNaseH-like_dom		0.498	GTF2IRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2IRD2	HGNC	protein_coding	OTTHUMT00000252712.3	C	NM_173537		74211261	-1	no_errors	ENST00000405086	ensembl	human	known	70_37	missense	SNP	0.885	T
HAL	3034	genome.wustl.edu	37	12	96374348	96374348	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr12:96374348G>A	ENST00000261208.3	-	17	1873	c.1505C>T	c.(1504-1506)aCg>aTg	p.T502M	HAL_ENST00000541929.1_Missense_Mutation_p.T294M|HAL_ENST00000538703.1_Missense_Mutation_p.T502M	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	502					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	GGCTGCTGCCGTGCAGTGAGC	0.542																																					NSCLC(169;943 2815 23563 30031)												0													102.0	84.0	90.0					12																	96374348		2203	4300	6503	SO:0001583	missense	3034				CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.1505C>T	12.37:g.96374348G>A	ENSP00000261208:p.Thr502Met		B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH	p.T502M	ENST00000261208.3	37	c.1505	CCDS9058.1	12	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842756	0.91197	.	.	ENSG00000084110	ENST00000261208;ENST00000541929;ENST00000538703	T;T;T	0.79247	-1.25;-1.25;-1.25	5.66	5.66	0.87406	L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.90528	0.7032	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.91685	0.5361	10	0.87932	D	0	-17.4176	19.7324	0.96188	0.0:0.0:1.0:0.0	.	502;502	F5GXF2;P42357	.;HUTH_HUMAN	M	502;294;502	ENSP00000261208:T502M;ENSP00000446364:T294M;ENSP00000440861:T502M	ENSP00000261208:T502M	T	-	2	0	HAL	94898479	1.000000	0.71417	0.974000	0.42286	0.917000	0.54804	9.476000	0.97823	2.663000	0.90544	0.655000	0.94253	ACG	HAL	-	pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH		0.542	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAL	HGNC	protein_coding	OTTHUMT00000408644.1	G			96374348	-1	no_errors	ENST00000261208	ensembl	human	known	70_37	missense	SNP	1.000	A
MROH2A	339766	genome.wustl.edu	37	2	234731551	234731551	+	Silent	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:234731551C>G	ENST00000389758.3	+	34	4057	c.3891C>G	c.(3889-3891)ctC>ctG	p.L1297L				A6NES4	MRO2A_HUMAN	maestro heat-like repeat family member 2A	1327																	CCATGCAGCTCTTGTTCAAGA	0.607																																																	0																																										SO:0001819	synonymous_variant	339766				CCDS74674.1	2q37.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000185038	ENSG00000185038		"""maestro heat-like repeat containing"""	27936	protein-coding gene	gene with protein product			"""HEAT repeat containing 7B1"""	HEATR7B1		12477932	Standard	NM_001287395		Approved			A6NES4	OTTHUMG00000059037	ENST00000389758.3:c.3891C>G	2.37:g.234731551C>G				Silent	SNP	superfamily_ARM-type_fold	p.L1297	ENST00000389758.3	37	c.3891		2																																																																																			HEATR7B1	-	superfamily_ARM-type_fold		0.607	MROH2A-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	HEATR7B1	HGNC	protein_coding	OTTHUMT00000130646.6	C	XM_291007		234731551	+1	no_errors	ENST00000389758	ensembl	human	novel	70_37	silent	SNP	0.006	G
MROH2B	133558	genome.wustl.edu	37	5	41012810	41012810	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:41012810C>T	ENST00000399564.4	-	30	3460	c.3010G>A	c.(3010-3012)Gaa>Aaa	p.E1004K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E559K	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1004																	ATCAGAATTTCTTCATTTGGG	0.428																																																	0													118.0	115.0	116.0					5																	41012810		1887	4124	6011	SO:0001583	missense	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3010G>A	5.37:g.41012810C>T	ENSP00000382476:p.Glu1004Lys		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E1004K	ENST00000399564.4	37	c.3010	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	C	18.85	3.712300	0.68730	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.05649	3.41;3.41	6.04	6.04	0.98038	Armadillo-like helical (1);Armadillo-type fold (1);	0.203887	0.34879	N	0.003617	T	0.14700	0.0355	M	0.68593	2.085	0.41655	D	0.989153	P	0.51791	0.948	P	0.47941	0.562	T	0.00043	-1.2223	10	0.72032	D	0.01	.	16.0793	0.80989	0.0:1.0:0.0:0.0	.	1004	Q7Z745	HTRB2_HUMAN	K	559;709;1004	ENSP00000441504:E559K;ENSP00000382476:E1004K	ENSP00000296803:E709K	E	-	1	0	HEATR7B2	41048567	0.996000	0.38824	0.946000	0.38457	0.113000	0.19764	2.275000	0.43399	2.873000	0.98535	0.561000	0.74099	GAA	HEATR7B2	-	superfamily_ARM-type_fold		0.428	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	C	NM_173489		41012810	-1	no_errors	ENST00000399564	ensembl	human	known	70_37	missense	SNP	0.999	T
HES1	3280	genome.wustl.edu	37	3	193854273	193854273	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:193854273G>A	ENST00000232424.3	+	1	340	c.104G>A	c.(103-105)aGa>aAa	p.R35K		NM_005524.3	NP_005515.1	P30042	ES1_HUMAN	hes family bHLH transcription factor 1	0						mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		TCTGAGCACAGAAAGGTAAGG	0.517																																																	0													44.0	44.0	44.0					3																	193854273		2203	4300	6503	SO:0001583	missense	3280			L19314	CCDS3305.1	3q28-q29	2013-10-17	2013-10-17	2003-01-10	ENSG00000114315	ENSG00000114315		"""Basic helix-loop-helix proteins"""	5192	protein-coding gene	gene with protein product		139605	"""hairy homolog (Drosophila)"", ""hairy and enhancer of split 1, (Drosophila)"""	HRY		8020957	Standard	NM_005524		Approved	FLJ20408, HES-1, Hes1, bHLHb39	uc003ftq.2	Q14469	OTTHUMG00000155984	ENST00000232424.3:c.104G>A	3.37:g.193854273G>A	ENSP00000232424:p.Arg35Lys		A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Missense_Mutation	SNP	pfam_Orange,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom	p.R35K	ENST00000232424.3	37	c.104	CCDS3305.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.082559	0.94050	.	.	ENSG00000114315	ENST00000232424	D	0.97924	-4.61	5.04	5.04	0.67666	Helix-loop-helix DNA-binding (4);	0.046546	0.85682	D	0.000000	D	0.98865	0.9616	M	0.88906	2.99	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.988	D	0.99675	1.0997	10	0.87932	D	0	-10.9577	17.1345	0.86735	0.0:0.0:1.0:0.0	.	35;35	B4DU36;Q14469	.;HES1_HUMAN	K	35	ENSP00000232424:R35K	ENSP00000232424:R35K	R	+	2	0	HES1	195336967	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.723000	0.91458	2.625000	0.88918	0.655000	0.94253	AGA	HES1	-	pfam_HLH_dom,superfamily_HLH_dom,pfscan_HLH_dom		0.517	HES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HES1	HGNC	protein_coding	OTTHUMT00000342632.1	G			193854273	+1	no_errors	ENST00000232424	ensembl	human	known	70_37	missense	SNP	1.000	A
HFM1	164045	genome.wustl.edu	37	1	91844728	91844728	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:91844728C>T	ENST00000370425.3	-	9	1148	c.1050G>A	c.(1048-1050)tgG>tgA	p.W350*	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Nonsense_Mutation_p.W29*	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	350	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ATTTTTCTTTCCAGTCATCAA	0.313																																																	0													84.0	81.0	82.0					1																	91844728		2203	4299	6502	SO:0001587	stop_gained	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1050G>A	1.37:g.91844728C>T	ENSP00000359454:p.Trp350*		B1B0B6|Q8N9Q0	Nonsense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.W350*	ENST00000370425.3	37	c.1050	CCDS30769.2	1	.	.	.	.	.	.	.	.	.	.	C	37	6.236851	0.97403	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421;ENST00000541820	.	.	.	5.66	5.66	0.87406	.	0.000000	0.43110	U	0.000619	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7394	0.96219	0.0:1.0:0.0:0.0	.	.	.	.	X	350;29;34;383	.	ENSP00000359450:W34X	W	-	3	0	HFM1	91617316	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.487000	0.81328	2.649000	0.89929	0.563000	0.77884	TGG	HFM1	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.313	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	HGNC	protein_coding	OTTHUMT00000316716.2	C	NM_001017975		91844728	-1	no_errors	ENST00000370425	ensembl	human	known	70_37	nonsense	SNP	1.000	T
HIST1H1B	3009	genome.wustl.edu	37	6	27834744	27834744	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:27834744C>G	ENST00000331442.3	-	1	615	c.564G>C	c.(562-564)aaG>aaC	p.K188N		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	188					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TGGCAGGACTCTTGGTTGCCT	0.587																																																	0													76.0	75.0	75.0					6																	27834744		2203	4300	6503	SO:0001583	missense	3009			AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.564G>C	6.37:g.27834744C>G	ENSP00000330074:p.Lys188Asn		Q14529|Q3MJ42	Missense_Mutation	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.K188N	ENST00000331442.3	37	c.564	CCDS4635.1	6	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537741	0.27475	.	.	ENSG00000184357	ENST00000331442	T	0.20463	2.07	5.19	2.47	0.30058	.	0.053885	0.64402	D	0.000001	T	0.11024	0.0269	N	0.08118	0	0.58432	D	0.999992	D	0.69078	0.997	P	0.61397	0.888	T	0.11941	-1.0567	10	0.72032	D	0.01	-5.6055	9.7808	0.40647	0.0:0.709:0.0:0.291	.	188	P16401	H15_HUMAN	N	188	ENSP00000330074:K188N	ENSP00000330074:K188N	K	-	3	2	HIST1H1B	27942723	1.000000	0.71417	0.937000	0.37676	0.051000	0.14879	2.393000	0.44442	0.316000	0.23135	-0.136000	0.14681	AAG	HIST1H1B	-	NULL		0.587	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1B	HGNC	protein_coding	OTTHUMT00000043371.1	C	NM_005322		27834744	-1	no_errors	ENST00000331442	ensembl	human	known	70_37	missense	SNP	1.000	G
HIVEP3	59269	genome.wustl.edu	37	1	42047016	42047016	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:42047016G>A	ENST00000372583.1	-	4	4338	c.3453C>T	c.(3451-3453)ctC>ctT	p.L1151L	HIVEP3_ENST00000372584.1_Silent_p.L1151L|HIVEP3_ENST00000247584.5_Silent_p.L1151L|HIVEP3_ENST00000429157.2_Silent_p.L1151L|HIVEP3_ENST00000460604.1_5'Flank	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1151					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CATGCTGCACGAGATGCTGGA	0.587																																																	0													126.0	121.0	122.0					1																	42047016		2203	4300	6503	SO:0001819	synonymous_variant	59269			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.3453C>T	1.37:g.42047016G>A			A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L1151	ENST00000372583.1	37	c.3453	CCDS463.1	1																																																																																			HIVEP3	-	NULL		0.587	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1	G	NM_024503		42047016	-1	no_errors	ENST00000247584	ensembl	human	known	70_37	silent	SNP	0.008	A
HKDC1	80201	genome.wustl.edu	37	10	71007183	71007183	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:71007183G>A	ENST00000354624.5	+	9	1232	c.1099G>A	c.(1099-1101)Gac>Aac	p.D367N	HKDC1_ENST00000395086.2_Missense_Mutation_p.D367N	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	367	Hexokinase type-2 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GTCTGAGGCTGACTGCATTGC	0.572																																																	0													128.0	123.0	125.0					10																	71007183		2203	4300	6503	SO:0001583	missense	80201				CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1099G>A	10.37:g.71007183G>A	ENSP00000346643:p.Asp367Asn		B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.D367N	ENST00000354624.5	37	c.1099	CCDS7288.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.187659	0.94923	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.97041	-4.22;-4.22	4.84	4.84	0.62591	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98915	0.9632	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99601	1.0978	10	0.87932	D	0	-29.4257	18.1044	0.89516	0.0:0.0:1.0:0.0	.	367	Q2TB90	HKDC1_HUMAN	N	367	ENSP00000346643:D367N;ENSP00000378521:D367N	ENSP00000346643:D367N	D	+	1	0	HKDC1	70677189	1.000000	0.71417	0.949000	0.38748	0.877000	0.50540	9.657000	0.98554	2.498000	0.84270	0.561000	0.74099	GAC	HKDC1	-	pfam_Hexokinase_C		0.572	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HKDC1	HGNC	protein_coding	OTTHUMT00000048389.1	G	NM_025130		71007183	+1	no_errors	ENST00000354624	ensembl	human	known	70_37	missense	SNP	1.000	A
HLA-F	3134	genome.wustl.edu	37	6	29691562	29691562	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:29691562G>A	ENST00000376861.1	+	3	576	c.192G>A	c.(190-192)ccG>ccA	p.P64P	HLA-F_ENST00000434407.2_Silent_p.P64P|HLA-F_ENST00000440587.2_5'UTR|HLA-F_ENST00000334668.4_Silent_p.P64P|HLA-F_ENST00000259951.7_Silent_p.P64P			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	64	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CCGCGATTCCGAGGATGGAGC	0.682																																																	0													16.0	15.0	15.0					6																	29691562		1506	2707	4213	SO:0001819	synonymous_variant	3134			AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156	ENST00000376861.1:c.192G>A	6.37:g.29691562G>A			Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Silent	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.P64	ENST00000376861.1	37	c.192	CCDS43438.1	6																																																																																			HLA-F	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.682	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-F	HGNC	protein_coding	OTTHUMT00000195083.1	G	NM_018950		29691562	+1	no_errors	ENST00000259951	ensembl	human	known	70_37	silent	SNP	0.046	A
HLA-A	3105	genome.wustl.edu	37	6	29912342	29912342	+	Missense_Mutation	SNP	G	G	A	rs1059896	byFrequency	TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:29912342G>A	ENST00000396634.1	+	7	1302	c.961G>A	c.(961-963)Gtg>Atg	p.V321M	HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376809.5_Missense_Mutation_p.V321M|HLA-A_ENST00000376806.5_Missense_Mutation_p.V321M			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	321					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CCTTGGAGCTGTGATCACTGG	0.597									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			g|||	128	0.0255591	0.0416	0.0173	5008	,	,		20442	0.003		0.0318	False		,,,				2504	0.0266																0													112.0	106.0	108.0					6																	29912342		1511	2709	4220	SO:0001583	missense	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.961G>A	6.37:g.29912342G>A	ENSP00000379873:p.Val321Met		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.V321M	ENST00000396634.1	37	c.961	CCDS34373.1	6	.	.	.	.	.	.	.	.	.	.	.	5.337	0.247500	0.10130	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809	T;T;T	0.00840	5.65;5.63;5.65	3.33	-6.27	0.02026	.	0.430133	0.16501	U	0.211648	T	0.00967	0.0032	M	0.90145	3.09	0.09310	N	1	B;B;P;B;B	0.48640	0.028;0.003;0.913;0.011;0.003	B;B;P;B;B	0.52159	0.007;0.017;0.691;0.031;0.017	T	0.11817	-1.0572	10	0.87932	D	0	.	2.2389	0.04015	0.2058:0.4163:0.2375:0.1404	rs1059896;rs2231110;rs3179278;rs3200748;rs9260188;rs11539952;rs17434177;rs41564014;rs52825425	200;321;321;321;321	B4DVB9;P16188;Q5SRN5;P30455;P04439	.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	M	321	ENSP00000379873:V321M;ENSP00000366002:V321M;ENSP00000366005:V321M	ENSP00000366002:V321M	V	+	1	0	HLA-A	30020321	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.236000	0.09003	-0.955000	0.03636	0.430000	0.28490	GTG	HLA-A	-	NULL		0.597	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	G	NM_002116		29912342	+1	no_errors	ENST00000376806	ensembl	human	known	70_37	missense	SNP	0.000	A
HMCN1	83872	genome.wustl.edu	37	1	186017887	186017887	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:186017887C>T	ENST00000271588.4	+	42	6722	c.6493C>T	c.(6493-6495)Cag>Tag	p.Q2165*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.Q2165*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2165	Ig-like C2-type 19.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGAAGATGCTCAGGTTCAAGA	0.323																																																	0													97.0	99.0	98.0					1																	186017887		2203	4300	6503	SO:0001587	stop_gained	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6493C>T	1.37:g.186017887C>T	ENSP00000271588:p.Gln2165*		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.Q2165*	ENST00000271588.4	37	c.6493	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	49	15.503004	0.99836	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	18.8405	0.92182	0.0:1.0:0.0:0.0	.	.	.	.	X	2165	.	ENSP00000271588:Q2165X	Q	+	1	0	HMCN1	184284510	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.445000	0.80570	2.503000	0.84419	0.557000	0.71058	CAG	HMCN1	-	pfam_Ig_I-set,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.323	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	C	NM_031935		186017887	+1	no_errors	ENST00000271588	ensembl	human	known	70_37	nonsense	SNP	1.000	T
HMGB1P5	10354	genome.wustl.edu	37	3	22423477	22423477	+	RNA	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:22423477G>C	ENST00000451497.1	+	0	42									high mobility group box 1 pseudogene 5																		CTGCTAAAGAGAAAGGAAAAT	0.438																																																	0																																												10354			AF076677		3p24	2011-09-21	2011-04-05	2010-10-15	ENSG00000132967	ENSG00000132967		"""High mobility group / HMG-box pseudogenes"""	4997	pseudogene	pseudogene			"""high-mobility group (nonhistone chromosomal) protein 1-like 5"", ""high-mobility group (nonhistone chromosomal) protein 1-like 5 pseudogene"", ""high-mobility group box 1-like 5 pseudogene"", ""high-mobility group box 1-like 15"", ""high-mobility group box 1 pseudogene 2"", ""high-mobility group box 1-like 5"", ""high-mobility group box 1 pseudogene 5"""	HMG1L5, HMGB1L15, HMGB1P2, HMGB1L5		9925949	Standard	NG_000897		Approved				OTTHUMG00000155591		3.37:g.22423477G>C				RNA	SNP	-	NULL	ENST00000451497.1	37	NULL		3																																																																																			HMGB1P5	-	-		0.438	HMGB1P5-002	KNOWN	basic	processed_transcript	HMGB1P5	HGNC	pseudogene	OTTHUMT00000340803.1	G	NG_000897		22423477	+1	no_errors	ENST00000451497	ensembl	human	known	70_37	rna	SNP	1.000	C
PRAC1	84366	genome.wustl.edu	37	17	46801809	46801809	+	5'Flank	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:46801809C>T	ENST00000290294.3	-	0	0				PRAC2_ENST00000422730.2_RNA|PRAC2_ENST00000432056.1_RNA|MIR3185_ENST00000583892.1_RNA	NM_032391.2	NP_115767.1	Q96KF2	PRAC1_HUMAN	prostate cancer susceptibility candidate 1							nucleus (GO:0005634)											GCCTGGCTCCCGCAGACCGAC	0.552											OREG0024525	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001631	upstream_gene_variant	360205			AF331165	CCDS11535.1	17q21	2013-08-29	2013-08-29	2013-08-29	ENSG00000159182	ENSG00000159182			30591	protein-coding gene	gene with protein product	"""prostate, rectum and colon"""	609819	"""chromosome 17 open reading frame 92"", ""prostate cancer susceptibility candidate"""	C17orf92, PRAC		11340635	Standard	NM_032391		Approved		uc002iny.3	Q96KF2	OTTHUMG00000159899		17.37:g.46801809C>T	Exception_encountered	942		RNA	SNP	-	NULL	ENST00000290294.3	37	NULL	CCDS11535.1	17																																																																																			HOXB-AS5	-	-		0.552	PRAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB-AS5	HGNC	protein_coding	OTTHUMT00000358086.1	C	NM_032391		46801809	+1	no_errors	ENST00000422730	ensembl	human	known	70_37	rna	SNP	0.000	T
HRAS	3265	genome.wustl.edu	37	11	533515	533515	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:533515C>T	ENST00000451590.1	-	4	575	c.388G>A	c.(388-390)Gct>Act	p.A130T	HRAS_ENST00000311189.7_Missense_Mutation_p.A130T|HRAS_ENST00000397596.2_Missense_Mutation_p.A130T|HRAS_ENST00000397594.1_Missense_Mutation_p.A130T|HRAS_ENST00000417302.1_Missense_Mutation_p.A130T|HRAS_ENST00000468682.2_5'Flank	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	130					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGTCCTGAGCCTGCCGAGAT	0.637		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																													yes	Dom	yes	Costello syndrome	11	11p15.5	3265	v-Ha-ras Harvey rat sarcoma viral oncogene homolog		"""E, L, M"""	0													173.0	155.0	161.0					11																	533515		2202	4300	6502	SO:0001583	missense	3265	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.388G>A	11.37:g.533515C>T	ENSP00000407586:p.Ala130Thr		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A130T	ENST00000451590.1	37	c.388	CCDS7698.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.388159	0.95988	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33	4.08	4.08	0.47627	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88232	0.6381	M	0.85777	2.775	0.80722	D	1	D;D	0.60160	0.987;0.979	P;P	0.56434	0.764;0.798	D	0.90929	0.4789	10	0.87932	D	0	.	15.6446	0.77039	0.0:1.0:0.0:0.0	.	130;130	P01112-2;P01112	.;RASH_HUMAN	T	130	ENSP00000380722:A130T;ENSP00000380723:A130T;ENSP00000407586:A130T;ENSP00000388246:A130T;ENSP00000309845:A130T	ENSP00000309845:A130T	A	-	1	0	HRAS	523515	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.494000	0.81503	1.997000	0.58415	0.561000	0.74099	GCT	HRAS	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom		0.637	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	HRAS	HGNC	protein_coding	OTTHUMT00000259403.2	C	NM_176795		533515	-1	no_errors	ENST00000311189	ensembl	human	known	70_37	missense	SNP	1.000	T
HSD17B10	3028	genome.wustl.edu	37	X	53459255	53459255	+	Missense_Mutation	SNP	C	C	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:53459255C>A	ENST00000168216.6	-	3	324	c.297G>T	c.(295-297)aaG>aaT	p.K99N	HSD17B10_ENST00000375298.4_Missense_Mutation_p.K99N|HSD17B10_ENST00000375304.5_Missense_Mutation_p.K99N|HSD17B10_ENST00000495986.1_5'UTR|RP3-339A18.6_ENST00000418049.1_RNA	NM_001037811.2|NM_004493.2	NP_001032900.1|NP_004484.1	Q99714	HCD2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 10	99					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity (GO:0047015)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|cholate 7-alpha-dehydrogenase activity (GO:0008709)|poly(A) RNA binding (GO:0044822)|testosterone dehydrogenase [NAD(P)] activity (GO:0030283)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	8						AGTTGTACGTCTTGCTAGCCA	0.502																																																	0													138.0	106.0	117.0					X																	53459255		2203	4300	6503	SO:0001583	missense	3028			U96132	CCDS14354.1, CCDS35300.1	Xp11.2	2014-09-17	2006-11-22	2006-11-22	ENSG00000072506	ENSG00000072506	1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	4800	protein-coding gene	gene with protein product	"""type 10 17b-HSD"", ""type 10 17beta-hydroxysteroid dehydrogenase"", ""AB-binding alcohol dehydrogenase"", ""short chain dehydrogenase/reductase family 5C, member 1"", ""mitochondrial RNase P subunit 2"""	300256	"""hydroxyacyl-Coenzyme A dehydrogenase, type II, hydroxyacyl-Coenzyme A dehydrogenase, type II"", ""mental retardation, X-linked, syndromic 10"""	HADH2, MRXS10		9338779, 16899120, 19027726, 18984158, 17236142	Standard	NM_004493		Approved	ERAB, MHBD, 17b-HSD10, ABAD, SDR5C1, MRPP2, CAMR	uc004dsl.1	Q99714	OTTHUMG00000021612	ENST00000168216.6:c.297G>T	X.37:g.53459255C>A	ENSP00000168216:p.Lys99Asn		Q5H927|Q6IBS9|Q8TCV9|Q96HD5	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect,prints_DHB_DH	p.K99N	ENST00000168216.6	37	c.297	CCDS14354.1	X	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512483	0.64522	.	.	ENSG00000072506	ENST00000168216;ENST00000375304;ENST00000375298	D;D;D	0.87179	-2.22;-2.22;-2.22	5.81	4.96	0.65561	NAD(P)-binding domain (1);	0.081918	0.85682	D	0.000000	D	0.89054	0.6606	L	0.42245	1.32	0.80722	D	1	P;D	0.65815	0.679;0.995	B;D	0.64506	0.224;0.926	D	0.88979	0.3406	10	0.87932	D	0	.	9.2358	0.37466	0.0:0.8296:0.0:0.1703	.	99;99	Q99714-2;Q99714	.;HCD2_HUMAN	N	99	ENSP00000168216:K99N;ENSP00000364453:K99N;ENSP00000364447:K99N	ENSP00000168216:K99N	K	-	3	2	HSD17B10	53475980	1.000000	0.71417	0.971000	0.41717	0.800000	0.45204	1.315000	0.33608	1.222000	0.43521	0.600000	0.82982	AAG	HSD17B10	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR		0.502	HSD17B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B10	HGNC	protein_coding	OTTHUMT00000056750.1	C	NM_004493		53459255	-1	no_errors	ENST00000168216	ensembl	human	known	70_37	missense	SNP	1.000	A
HSPA12B	116835	genome.wustl.edu	37	20	3723036	3723036	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr20:3723036G>A	ENST00000254963.2	+	4	392	c.247G>A	c.(247-249)Gag>Aag	p.E83K	HSPA12B_ENST00000542646.1_Intron	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	83							ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						CAGTGACCCTGAGGCCATCCA	0.592																																																	0													58.0	53.0	55.0					20																	3723036		2203	4300	6503	SO:0001583	missense	116835			AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"""Heat shock proteins / HSP70"""	16193	protein-coding gene	gene with protein product		610702	"""chromosome 20 open reading frame 60"""	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.247G>A	20.37:g.3723036G>A	ENSP00000254963:p.Glu83Lys		D3DVX7|Q2TAK3|Q9BR52	Missense_Mutation	SNP	NULL	p.E83K	ENST00000254963.2	37	c.247	CCDS13061.1	20	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029862	0.75504	.	.	ENSG00000132622	ENST00000254963	T	0.03242	4.0	4.73	4.73	0.59995	.	0.052473	0.64402	D	0.000001	T	0.11024	0.0269	M	0.65975	2.015	0.80722	D	1	P;P	0.48640	0.837;0.913	B;P	0.53035	0.373;0.716	T	0.11397	-1.0589	10	0.25751	T	0.34	.	15.5958	0.76578	0.0:0.0:1.0:0.0	.	83;83	B7ZLP2;Q96MM6	.;HS12B_HUMAN	K	83	ENSP00000254963:E83K	ENSP00000254963:E83K	E	+	1	0	HSPA12B	3671036	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.503000	0.81632	2.626000	0.88956	0.655000	0.94253	GAG	HSPA12B	-	NULL		0.592	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA12B	HGNC	protein_coding	OTTHUMT00000077756.2	G	NM_052970		3723036	+1	no_errors	ENST00000254963	ensembl	human	known	70_37	missense	SNP	1.000	A
HTR2C	3358	genome.wustl.edu	37	X	113961366	113961366	+	Silent	SNP	G	G	A	rs202034357		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:113961366G>A	ENST00000276198.1	+	3	749	c.21G>A	c.(19-21)gcG>gcA	p.A7A	HTR2C_ENST00000371951.1_Silent_p.A7A|HTR2C_ENST00000371950.3_Silent_p.A7A	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	7					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGAGGAATGCGGTGCATTCAT	0.348																																																	0								G		0,3834		0,0,1632,570	87.0	78.0	81.0		21	1.8	0.5	X		81	1,6727		0,1,2427,1872	no	coding-synonymous	HTR2C	NM_000868.2		0,1,4059,2442	AA,AG,GG,G		0.0149,0.0,0.0095		7/459	113961366	1,10561	2202	4300	6502	SO:0001819	synonymous_variant	3358				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.21G>A	X.37:g.113961366G>A			B1AMW4|Q5VUF8|Q9NP28	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2C_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.A7	ENST00000276198.1	37	c.21	CCDS14564.1	X																																																																																			HTR2C	-	prints_5HT2C_rcpt		0.348	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR2C	HGNC	protein_coding	OTTHUMT00000057962.1	G	NM_000868		113961366	+1	no_errors	ENST00000276198	ensembl	human	known	70_37	silent	SNP	0.569	A
HTR2C	3358	genome.wustl.edu	37	X	114141909	114141909	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:114141909G>A	ENST00000276198.1	+	6	2036	c.1308G>A	c.(1306-1308)atG>atA	p.M436I	HTR2C_ENST00000371951.1_Missense_Mutation_p.M436I|HTR2C_ENST00000371950.3_3'UTR	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	436					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GTATAGAGATGCAAGTTGAGA	0.453																																																	0													146.0	140.0	142.0					X																	114141909		2203	4300	6503	SO:0001583	missense	3358				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.1308G>A	X.37:g.114141909G>A	ENSP00000276198:p.Met436Ile		B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2C_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.M436I	ENST00000276198.1	37	c.1308	CCDS14564.1	X	.	.	.	.	.	.	.	.	.	.	G	10.68	1.419580	0.25552	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.56275	0.47;0.47	5.05	4.17	0.49024	.	0.210877	0.42821	D	0.000657	T	0.42471	0.1204	L	0.54323	1.7	0.80722	D	1	P	0.36577	0.558	B	0.32805	0.153	T	0.28933	-1.0028	10	0.22109	T	0.4	.	10.5675	0.45181	0.0994:0.0:0.9006:0.0	.	436	P28335	5HT2C_HUMAN	I	436	ENSP00000276198:M436I;ENSP00000361019:M436I	ENSP00000276198:M436I	M	+	3	0	HTR2C	114048165	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	5.564000	0.67359	2.338000	0.79540	0.544000	0.68410	ATG	HTR2C	-	prints_5HT2C_rcpt		0.453	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR2C	HGNC	protein_coding	OTTHUMT00000057962.1	G	NM_000868		114141909	+1	no_errors	ENST00000276198	ensembl	human	known	70_37	missense	SNP	0.991	A
IGFN1	91156	genome.wustl.edu	37	1	201181630	201181630	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:201181630G>A	ENST00000335211.4	+	12	7739	c.7609G>A	c.(7609-7611)Gag>Aag	p.E2537K	IGFN1_ENST00000451870.2_Intron|IGFN1_ENST00000295591.8_5'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGTGGAAGGTGAGACCTGGGC	0.577																																																	0													25.0	29.0	28.0					1																	201181630		692	1591	2283	SO:0001583	missense	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.7609G>A	1.37:g.201181630G>A	ENSP00000334714:p.Glu2537Lys		F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E2537K	ENST00000335211.4	37	c.7609	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	g	11.23	1.576399	0.28092	.	.	ENSG00000163395	ENST00000335211	T	0.51817	0.69	3.09	2.05	0.26809	.	.	.	.	.	T	0.24198	0.0586	N	0.08118	0	0.09310	N	0.999999	.	.	.	.	.	.	T	0.17167	-1.0378	6	.	.	.	.	6.0668	0.19868	0.0:0.1668:0.5464:0.2868	.	.	.	.	K	2537	ENSP00000334714:E2537K	.	E	+	1	0	IGFN1	199448253	0.001000	0.12720	0.010000	0.14722	0.108000	0.19459	0.784000	0.26816	1.411000	0.46957	0.306000	0.20318	GAG	IGFN1	-	NULL		0.577	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		G	NM_178275		201181630	+1	no_errors	ENST00000335211	ensembl	human	known	70_37	missense	SNP	0.000	A
IGFN1	91156	genome.wustl.edu	37	1	201182516	201182516	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:201182516G>A	ENST00000335211.4	+	12	8625	c.8495G>A	c.(8494-8496)aGa>aAa	p.R2832K	IGFN1_ENST00000451870.2_Intron|IGFN1_ENST00000295591.8_5'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGAGGAAAGAGAAGGGGAGCA	0.632																																																	0													41.0	35.0	37.0					1																	201182516		2203	4300	6503	SO:0001583	missense	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.8495G>A	1.37:g.201182516G>A	ENSP00000334714:p.Arg2832Lys		F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R2832K	ENST00000335211.4	37	c.8495	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.549535	0.65311	.	.	ENSG00000163395	ENST00000335211	T	0.66460	-0.21	3.33	3.33	0.38152	.	.	.	.	.	T	0.55909	0.1950	N	0.22421	0.69	0.80722	D	1	.	.	.	.	.	.	T	0.48468	-0.9033	7	0.17369	T	0.5	.	12.4235	0.55534	0.0:0.0:1.0:0.0	.	.	.	.	K	2832	ENSP00000334714:R2832K	ENSP00000334714:R2832K	R	+	2	0	IGFN1	199449139	0.266000	0.24112	0.025000	0.17156	0.025000	0.11179	2.098000	0.41757	1.397000	0.46682	0.491000	0.48974	AGA	IGFN1	-	NULL		0.632	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		G	NM_178275		201182516	+1	no_errors	ENST00000335211	ensembl	human	known	70_37	missense	SNP	0.026	A
IL20	50604	genome.wustl.edu	37	1	207039221	207039221	+	Silent	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:207039221C>T	ENST00000367098.1	+	2	387	c.24C>T	c.(22-24)ttC>ttT	p.F8F	IL20_ENST00000391930.2_Silent_p.F8F|IL20_ENST00000367096.3_Silent_p.F8F			Q9UHF5	IL17B_HUMAN	interleukin 20	0					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		GTCTTGCCTTCAGCCTTCTCT	0.478																																																	0													150.0	137.0	141.0					1																	207039221		2203	4300	6503	SO:0001819	synonymous_variant	50604			AF224266	CCDS1470.1	1q32	2008-02-05			ENSG00000162891	ENSG00000162891		"""Interleukins and interleukin receptors"""	6002	protein-coding gene	gene with protein product		605619				11163236	Standard	NM_018724		Approved	ZCYTO10, IL10D, IL-20	uc001her.3	Q9NYY1	OTTHUMG00000036456	ENST00000367098.1:c.24C>T	1.37:g.207039221C>T			Q14CE5	Silent	SNP	pfam_Interleukin-10/19/20/24,superfamily_4_helix_cytokine-like_core,smart_Interleukin-10/19/20/24,prints_Interleukin-20,prints_Interleukin-24	p.F8	ENST00000367098.1	37	c.24	CCDS1470.1	1																																																																																			IL20	-	prints_Interleukin-20		0.478	IL20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL20	HGNC	protein_coding	OTTHUMT00000088676.1	C	NM_018724		207039221	+1	no_errors	ENST00000367096	ensembl	human	known	70_37	silent	SNP	0.001	T
IL5RA	3568	genome.wustl.edu	37	3	3139969	3139969	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:3139969G>A	ENST00000446632.2	-	6	947	c.373C>T	c.(373-375)Cct>Tct	p.P125S	IL5RA_ENST00000311981.8_Missense_Mutation_p.P125S|IL5RA_ENST00000256452.3_Missense_Mutation_p.P125S|IL5RA_ENST00000430514.2_Missense_Mutation_p.P125S|IL5RA_ENST00000456302.1_Missense_Mutation_p.P125S|IL5RA_ENST00000383846.1_Missense_Mutation_p.P125S|IL5RA_ENST00000418488.2_Missense_Mutation_p.P125S|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000438560.1_Missense_Mutation_p.P125S	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	125					cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		GAGGTTCCAGGAGACCCTAGG	0.398																																					GBM(169;430 2801 24955 28528)												0													144.0	146.0	145.0					3																	3139969		2203	4300	6503	SO:0001583	missense	3568			M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"""Interleukins and interleukin receptors"", ""CD molecules"""	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.373C>T	3.37:g.3139969G>A	ENSP00000412209:p.Pro125Ser		B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	p.P125S	ENST00000446632.2	37	c.373	CCDS2559.1	3	.	.	.	.	.	.	.	.	.	.	G	5.057	0.196121	0.09599	.	.	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000418488;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302;ENST00000445701	D;D;D;T;T;T;T;T;T	0.88124	-2.34;-2.27;-2.34;1.18;1.17;1.17;1.17;1.17;1.44	5.72	4.84	0.62591	Immunoglobulin-like fold (1);	0.631808	0.15939	N	0.237269	D	0.83422	0.5251	L	0.56769	1.78	0.38343	D	0.944125	B;B;B;B;B	0.31968	0.31;0.176;0.214;0.136;0.349	B;B;B;B;B	0.28553	0.06;0.054;0.073;0.033;0.091	T	0.81640	-0.0841	10	0.36615	T	0.2	-12.0206	11.0623	0.47955	0.0861:0.0:0.9139:0.0	.	125;125;125;125;125	B4E2G0;Q01344-3;Q01344-2;Q01344;E7ERY4	.;.;.;IL5RA_HUMAN;.	S	125	ENSP00000412209:P125S;ENSP00000390753:P125S;ENSP00000256452:P125S;ENSP00000388858:P125S;ENSP00000373358:P125S;ENSP00000309196:P125S;ENSP00000400400:P125S;ENSP00000392059:P125S;ENSP00000398117:P125S	ENSP00000256452:P125S	P	-	1	0	IL5RA	3114969	0.895000	0.30542	0.084000	0.20598	0.141000	0.21300	0.634000	0.24614	1.385000	0.46445	0.655000	0.94253	CCT	IL5RA	-	NULL		0.398	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL5RA	HGNC	protein_coding	OTTHUMT00000337537.2	G			3139969	-1	no_errors	ENST00000256452	ensembl	human	known	70_37	missense	SNP	0.338	A
INADL	10207	genome.wustl.edu	37	1	62232113	62232113	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:62232113G>A	ENST00000371158.2	+	4	466	c.352G>A	c.(352-354)Gac>Aac	p.D118N	INADL_ENST00000316485.6_Missense_Mutation_p.D118N	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	118					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GGGAAATGAAGACTTTAACTC	0.403																																																	0													100.0	97.0	98.0					1																	62232113		2203	4300	6503	SO:0001583	missense	10207			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.352G>A	1.37:g.62232113G>A	ENSP00000360200:p.Asp118Asn		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ	p.D118N	ENST00000371158.2	37	c.352	CCDS617.2	1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419730	0.62622	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.13307	2.71;2.6	5.97	5.06	0.68205	.	0.297866	0.32068	N	0.006640	T	0.17831	0.0428	L	0.57536	1.79	0.80722	D	1	B;B;B	0.31611	0.331;0.325;0.325	B;B;B	0.34873	0.189;0.092;0.191	T	0.01810	-1.1269	10	0.44086	T	0.13	.	13.2908	0.60270	0.0727:0.0:0.9273:0.0	.	118;118;118	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	N	118	ENSP00000360200:D118N;ENSP00000326199:D118N	ENSP00000255202:D118N	D	+	1	0	INADL	62004701	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	3.437000	0.52863	1.530000	0.49136	0.591000	0.81541	GAC	INADL	-	NULL		0.403	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INADL	HGNC	protein_coding	OTTHUMT00000023639.2	G	NM_170605		62232113	+1	no_errors	ENST00000371158	ensembl	human	known	70_37	missense	SNP	1.000	A
INTS6	26512	genome.wustl.edu	37	13	51961658	51961658	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr13:51961658G>A	ENST00000311234.4	-	7	1230	c.758C>T	c.(757-759)tCa>tTa	p.S253L	INTS6_ENST00000497989.1_Missense_Mutation_p.S75L|INTS6_ENST00000490542.1_5'Flank|INTS6_ENST00000463928.1_Missense_Mutation_p.S253L|INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000420668.2_3'UTR|INTS6_ENST00000398119.2_Missense_Mutation_p.S240L	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	253					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		AAAAGGCCTTGATATATCTGG	0.373																																																	0													59.0	56.0	57.0					13																	51961658		2203	4300	6503	SO:0001583	missense	26512			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.758C>T	13.37:g.51961658G>A	ENSP00000310260:p.Ser253Leu		Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	pfam_VWF_A,pfscan_VWF_A	p.S253L	ENST00000311234.4	37	c.758	CCDS9428.1	13	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881032	0.33255	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989	.	.	.	4.81	3.95	0.45737	.	0.857527	0.10555	N	0.660960	T	0.39784	0.1091	N	0.16307	0.4	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16453	-1.0402	9	0.33940	T	0.23	-3.2548	7.5433	0.27751	0.0837:0.0:0.7499:0.1663	.	253	Q9UL03	INT6_HUMAN	L	253;240;75	.	ENSP00000310260:S253L	S	-	2	0	INTS6	50859659	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.251000	0.43187	1.118000	0.41863	0.561000	0.74099	TCA	INTS6	-	NULL		0.373	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS6	HGNC	protein_coding	OTTHUMT00000045023.1	G	NM_012141		51961658	-1	no_errors	ENST00000311234	ensembl	human	known	70_37	missense	SNP	0.990	A
IPO13	9670	genome.wustl.edu	37	1	44422596	44422596	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:44422596G>A	ENST00000372343.3	+	5	1881	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	407					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D406del(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CCCTTCTGATGAGGAATATGG	0.502																																																	1	Deletion - In frame(1)	central_nervous_system(1)											67.0	64.0	65.0					1																	44422596		2203	4300	6503	SO:0001583	missense	9670			AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.1219G>A	1.37:g.44422596G>A	ENSP00000361418:p.Glu407Lys		D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.E407K	ENST00000372343.3	37	c.1219	CCDS503.1	1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502344	0.64298	.	.	ENSG00000117408	ENST00000372343	T	0.71698	-0.59	6.03	6.03	0.97812	Armadillo-like helical (1);Armadillo-type fold (1);	0.052699	0.85682	D	0.000000	T	0.60663	0.2286	N	0.19112	0.55	0.80722	D	1	B	0.18310	0.027	B	0.18263	0.021	T	0.52147	-0.8614	10	0.31617	T	0.26	-17.0433	20.5596	0.99324	0.0:0.0:1.0:0.0	.	407	O94829	IPO13_HUMAN	K	407	ENSP00000361418:E407K	ENSP00000361418:E407K	E	+	1	0	IPO13	44195183	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.334000	0.79224	2.868000	0.98415	0.555000	0.69702	GAG	IPO13	-	superfamily_ARM-type_fold		0.502	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO13	HGNC	protein_coding	OTTHUMT00000022846.1	G	NM_014652		44422596	+1	no_errors	ENST00000372343	ensembl	human	known	70_37	missense	SNP	1.000	A
IPO4	79711	genome.wustl.edu	37	14	24652265	24652265	+	Missense_Mutation	SNP	G	G	A	rs201767926		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr14:24652265G>A	ENST00000354464.6	-	23	2514	c.2338C>T	c.(2338-2340)Cgc>Tgc	p.R780C	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	780					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CCACAGCTGCGGAGCACCCCT	0.672																																																	0								G	CYS/ARG	0,4208		0,0,2104	46.0	54.0	51.0		2338	5.9	1.0	14		51	1,8471		0,1,4235	yes	missense	IPO4	NM_024658.3	180	0,1,6339	AA,AG,GG		0.0118,0.0,0.0079	probably-damaging	780/1082	24652265	1,12679	2104	4236	6340	SO:0001583	missense	79711			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.2338C>T	14.37:g.24652265G>A	ENSP00000346453:p.Arg780Cys		B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N	p.R780C	ENST00000354464.6	37	c.2338	CCDS9616.1	14	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930320	0.73327	0.0	1.18E-4	ENSG00000196497	ENST00000354464;ENST00000399536	T	0.68025	-0.3	5.89	5.89	0.94794	Armadillo-like helical (1);Armadillo-type fold (2);	0.137387	0.49305	D	0.000157	T	0.75228	0.3821	L	0.46157	1.445	0.51767	D	0.999935	D;D	0.89917	0.999;1.0	D;D	0.69142	0.917;0.962	T	0.76501	-0.2936	10	0.87932	D	0	-13.909	12.7028	0.57043	0.0:0.0:0.8357:0.1643	.	780;780	Q8TEX9;Q8TEX9-2	IPO4_HUMAN;.	C	780;456	ENSP00000346453:R780C	ENSP00000346453:R780C	R	-	1	0	IPO4	23722105	0.886000	0.30341	1.000000	0.80357	0.760000	0.43138	3.807000	0.55591	2.793000	0.96121	0.655000	0.94253	CGC	IPO4	-	superfamily_ARM-type_fold		0.672	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO4	HGNC	protein_coding	OTTHUMT00000071931.4	G	NM_024658		24652265	-1	no_errors	ENST00000354464	ensembl	human	known	70_37	missense	SNP	1.000	A
ITGA4	3676	genome.wustl.edu	37	2	182339728	182339728	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:182339728G>C	ENST00000397033.2	+	3	791	c.361G>C	c.(361-363)Gag>Cag	p.E121Q	ITGA4_ENST00000478440.1_3'UTR|ITGA4_ENST00000339307.4_Missense_Mutation_p.E121Q	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	121					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TTGTTTGGAAGAGAGAGACAA	0.418																																																	0													102.0	99.0	100.0					2																	182339728		1880	4116	5996	SO:0001583	missense	3676				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.361G>C	2.37:g.182339728G>C	ENSP00000380227:p.Glu121Gln		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.E121Q	ENST00000397033.2	37	c.361	CCDS42788.1	2	.	.	.	.	.	.	.	.	.	.	G	27.1	4.805036	0.90623	.	.	ENSG00000115232	ENST00000425522;ENST00000339307;ENST00000397033;ENST00000233573	T;T;T	0.58210	0.35;0.35;0.35	5.28	5.28	0.74379	.	0.049329	0.85682	D	0.000000	T	0.70168	0.3193	L	0.61036	1.89	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74674	0.968;0.984	T	0.66388	-0.5936	10	0.33141	T	0.24	.	19.2608	0.93967	0.0:0.0:1.0:0.0	.	121;121	E7EP60;P13612	.;ITA4_HUMAN	Q	121	ENSP00000340149:E121Q;ENSP00000380227:E121Q;ENSP00000233573:E121Q	ENSP00000233573:E121Q	E	+	1	0	ITGA4	182047973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.544000	0.90654	2.623000	0.88846	0.655000	0.94253	GAG	ITGA4	-	NULL		0.418	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	HGNC	protein_coding	OTTHUMT00000334427.1	G			182339728	+1	no_errors	ENST00000397033	ensembl	human	known	70_37	missense	SNP	1.000	C
ITGB3	3690	genome.wustl.edu	37	17	45369886	45369886	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:45369886G>A	ENST00000559488.1	+	10	1658	c.1642G>A	c.(1642-1644)Gag>Aag	p.E548K	ITGB3_ENST00000560629.1_Missense_Mutation_p.R536Q|ITGB3_ENST00000435993.2_Missense_Mutation_p.E501K	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	548	Cysteine-rich tandem repeats.				activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	CAAGTACTGCGAGTGTGACGA	0.612																																																	0													127.0	115.0	119.0					17																	45369886		2203	4300	6503	SO:0001583	missense	3690				CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.1642G>A	17.37:g.45369886G>A	ENSP00000452786:p.Glu548Lys		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu	p.E548K	ENST00000559488.1	37	c.1642	CCDS11511.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.390720	0.95988	.	.	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.99319	-5.74	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.98985	0.9654	M	0.91249	3.19	0.80722	D	1	D	0.63880	0.993	B	0.42916	0.402	D	0.99918	1.1235	10	0.87932	D	0	.	17.8711	0.88811	0.0:0.0:1.0:0.0	.	548	P05106	ITB3_HUMAN	K	548;501	ENSP00000407801:E501K	ENSP00000262017:E548K	E	+	1	0	C17orf57	42724885	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.005000	0.88553	2.518000	0.84900	0.462000	0.41574	GAG	ITGB3	-	pirsf_Integrin_bsu		0.612	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB3	HGNC	protein_coding	OTTHUMT00000416111.3	G	NM_000212		45369886	+1	no_errors	ENST00000262017	ensembl	human	known	70_37	missense	SNP	1.000	A
ITPKA	3706	genome.wustl.edu	37	15	41795048	41795048	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:41795048G>A	ENST00000260386.5	+	6	1226	c.1173G>A	c.(1171-1173)agG>agA	p.R391R		NM_002220.2	NP_002211.1	P23677	IP3KA_HUMAN	inositol-trisphosphate 3-kinase A	391					actin cytoskeleton organization (GO:0030036)|dendritic spine maintenance (GO:0097062)|inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|positive regulation of dendritic spine morphogenesis (GO:0061003)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendritic spine (GO:0043197)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			kidney(1)|lung(3)|skin(1)	5		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		AGTTCTTCAGGAGGCACGAGG	0.687																																																	0													18.0	20.0	19.0					15																	41795048		2201	4294	6495	SO:0001819	synonymous_variant	3706			X54938	CCDS10076.1	15q15.1	2011-04-28	2011-04-28		ENSG00000137825	ENSG00000137825	2.7.1.127		6178	protein-coding gene	gene with protein product		147521	"""inositol 1,4,5-trisphosphate 3-kinase A"""			1330886, 2175886	Standard	NM_002220		Approved	IP3KA, IP3-3KA	uc001znz.3	P23677	OTTHUMG00000130343	ENST00000260386.5:c.1173G>A	15.37:g.41795048G>A			Q8TAN3	Silent	SNP	pfam_IPK	p.R391	ENST00000260386.5	37	c.1173	CCDS10076.1	15																																																																																			ITPKA	-	pfam_IPK		0.687	ITPKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKA	HGNC	protein_coding	OTTHUMT00000252695.3	G	NM_002220		41795048	+1	no_errors	ENST00000260386	ensembl	human	known	70_37	silent	SNP	0.912	A
ITPR1	3708	genome.wustl.edu	37	3	4821245	4821245	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:4821245G>A	ENST00000443694.2	+	46	6258	c.6258G>A	c.(6256-6258)tcG>tcA	p.S2086S	ITPR1_ENST00000354582.6_Silent_p.S2086S|ITPR1_ENST00000302640.8_Silent_p.S2086S|ITPR1_ENST00000357086.4_Silent_p.S2053S|ITPR1_ENST00000456211.2_Silent_p.S2038S|ITPR1_ENST00000423119.2_Silent_p.S2053S|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2101					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	ACAATGCCTCGAAGTTGCTCC	0.547																																																	0													104.0	104.0	104.0					3																	4821245		1934	4128	6062	SO:0001819	synonymous_variant	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.6258G>A	3.37:g.4821245G>A			E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.S2086	ENST00000443694.2	37	c.6258	CCDS54551.1	3																																																																																			ITPR1	-	NULL		0.547	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	G	NM_002222		4821245	+1	no_errors	ENST00000302640	ensembl	human	known	70_37	silent	SNP	0.043	A
KALRN	8997	genome.wustl.edu	37	3	124045013	124045013	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:124045013G>A	ENST00000240874.3	+	7	1430	c.1273G>A	c.(1273-1275)Gag>Aag	p.E425K	KALRN_ENST00000360013.3_Missense_Mutation_p.E425K|KALRN_ENST00000460856.1_Missense_Mutation_p.E425K	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	425					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCAGAAGGCTGAGCAGGTAAG	0.597																																																	0													65.0	48.0	53.0					3																	124045013		2203	4300	6503	SO:0001583	missense	8997			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1273G>A	3.37:g.124045013G>A	ENSP00000240874:p.Glu425Lys		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.E425K	ENST00000240874.3	37	c.1273	CCDS3027.1	3	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202836	0.79127	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	T;T;T	0.62232	0.62;0.54;0.04	4.89	4.89	0.63831	.	0.206952	0.39615	N	0.001311	T	0.59756	0.2217	L	0.47716	1.5	0.80722	D	1	B;B;B	0.14438	0.006;0.0;0.01	B;B;B	0.22753	0.018;0.001;0.041	T	0.58075	-0.7700	10	0.54805	T	0.06	.	18.6024	0.91253	0.0:0.0:1.0:0.0	.	425;425;425	C9IZQ6;O60229;O60229-2	.;KALRN_HUMAN;.	K	425	ENSP00000418611:E425K;ENSP00000240874:E425K;ENSP00000353109:E425K	ENSP00000240874:E425K	E	+	1	0	KALRN	125527703	1.000000	0.71417	0.933000	0.37362	0.878000	0.50629	7.712000	0.84684	2.709000	0.92574	0.655000	0.94253	GAG	KALRN	-	smart_Spectrin/alpha-actinin		0.597	KALRN-005	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000258843.4	G	NM_003947		124045013	+1	no_errors	ENST00000360013	ensembl	human	known	70_37	missense	SNP	1.000	A
KAT7	11143	genome.wustl.edu	37	17	47869285	47869285	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:47869285C>T	ENST00000259021.4	+	2	333	c.53C>T	c.(52-54)tCc>tTc	p.S18F	KAT7_ENST00000503935.2_5'UTR|KAT7_ENST00000454930.2_Missense_Mutation_p.S18F|KAT7_ENST00000424009.2_Missense_Mutation_p.S18F|KAT7_ENST00000510819.1_Missense_Mutation_p.S18F|FAM117A_ENST00000514018.1_5'Flank|KAT7_ENST00000509773.1_Missense_Mutation_p.S18F|KAT7_ENST00000435742.2_5'UTR	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	18	Ser-rich.				chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S18F(1)									ACCGAAGATTCCGATTTTTCT	0.473																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											159.0	146.0	150.0					17																	47869285		2203	4300	6503	SO:0001583	missense	11143			AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17016	protein-coding gene	gene with protein product	"""histone acetyltransferase binding to ORC1"""	609880	"""MYST histone acetyltransferase 2"""	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.53C>T	17.37:g.47869285C>T	ENSP00000259021:p.Ser18Phe		B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_C2HC,superfamily_Acyl_CoA_acyltransferase	p.S18F	ENST00000259021.4	37	c.53	CCDS11554.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.064386	0.93898	.	.	ENSG00000136504	ENST00000259021;ENST00000454930;ENST00000509773;ENST00000510819;ENST00000424009	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.76335	0.3973	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D	0.71674	0.99;0.99;0.99;0.998;0.994	D;D;D;D;D	0.78314	0.962;0.962;0.962;0.991;0.989	T	0.77343	-0.2623	9	0.87932	D	0	-11.0569	19.433	0.94779	0.0:1.0:0.0:0.0	.	18;18;18;18;18	B4DFE0;B4DFB4;E7ER15;O95251;G5E9K7	.;.;.;KAT7_HUMAN;.	F	18	.	ENSP00000259021:S18F	S	+	2	0	KAT7	45224284	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.479000	0.81095	2.692000	0.91855	0.650000	0.86243	TCC	KAT7	-	NULL		0.473	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT7	HGNC	protein_coding	OTTHUMT00000366032.1	C	NM_007067		47869285	+1	no_errors	ENST00000259021	ensembl	human	known	70_37	missense	SNP	1.000	T
KCNJ9	3765	genome.wustl.edu	37	1	160053898	160053898	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:160053898G>A	ENST00000368088.3	+	2	320	c.78G>A	c.(76-78)gaG>gaA	p.E26E		NM_004983.2	NP_004974.2	Q92806	KCNJ9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	26					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTACGTGGAGAAGGATGGCC	0.721																																																	0													38.0	26.0	30.0					1																	160053898		2170	4251	6421	SO:0001819	synonymous_variant	3765			U52152	CCDS1194.1	1q23.2	2011-07-05			ENSG00000162728	ENSG00000162728		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6270	protein-coding gene	gene with protein product		600932				8575783, 16382105	Standard	NM_004983		Approved	Kir3.3, GIRK3	uc001fuy.1	Q92806	OTTHUMG00000024072	ENST00000368088.3:c.78G>A	1.37:g.160053898G>A			Q5JW75	Silent	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.3	p.E26	ENST00000368088.3	37	c.78	CCDS1194.1	1																																																																																			KCNJ9	-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir		0.721	KCNJ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ9	HGNC	protein_coding	OTTHUMT00000060628.1	G	NM_004983		160053898	+1	no_errors	ENST00000368088	ensembl	human	known	70_37	silent	SNP	1.000	A
KDELR1	10945	genome.wustl.edu	37	19	48887664	48887664	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:48887664C>T	ENST00000330720.2	-	4	621	c.427G>A	c.(427-429)Gag>Aag	p.E143K	KDELR1_ENST00000597017.1_Missense_Mutation_p.E81K	NM_006801.2	NP_006792.1	P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1	143					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	KDEL sequence binding (GO:0005046)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		GTCTCCGCCTCGCCGGTCTTG	0.567																																																	0													62.0	54.0	57.0					19																	48887664		2203	4300	6503	SO:0001583	missense	10945			X55885	CCDS12718.1	19q13.3	2008-05-02				ENSG00000105438			6304	protein-coding gene	gene with protein product		131235				2172835	Standard	NM_006801		Approved	ERD2.1, ERD2, HDEL	uc002pjb.1	P24390		ENST00000330720.2:c.427G>A	19.37:g.48887664C>T	ENSP00000329471:p.Glu143Lys		B2R6N4|Q54A39|Q8NBW7	Missense_Mutation	SNP	pfam_ER_ret_rcpt,prints_ER_ret_rcpt	p.E143K	ENST00000330720.2	37	c.427	CCDS12718.1	19	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960331	0.74016	.	.	ENSG00000105438	ENST00000330720	T	0.45668	0.89	4.75	3.7	0.42460	.	0.000000	0.64402	D	0.000012	T	0.51466	0.1676	M	0.81942	2.565	0.58432	D	0.999996	P	0.44006	0.824	P	0.45343	0.477	T	0.59418	-0.7458	10	0.48119	T	0.1	.	14.1879	0.65617	0.0:0.8486:0.1514:0.0	.	143	P24390	ERD21_HUMAN	K	143	ENSP00000329471:E143K	ENSP00000329471:E143K	E	-	1	0	KDELR1	53579476	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	7.546000	0.82137	1.345000	0.45676	0.655000	0.94253	GAG	KDELR1	-	pfam_ER_ret_rcpt,prints_ER_ret_rcpt		0.567	KDELR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDELR1	HGNC	protein_coding	OTTHUMT00000465708.1	C			48887664	-1	no_errors	ENST00000330720	ensembl	human	known	70_37	missense	SNP	0.999	T
KDM6A	7403	genome.wustl.edu	37	X	44949031	44949031	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:44949031G>A	ENST00000377967.4	+	25	3633	c.3592G>A	c.(3592-3594)Gaa>Aaa	p.E1198K	KDM6A_ENST00000536777.1_Missense_Mutation_p.E1153K|KDM6A_ENST00000382899.4_Missense_Mutation_p.E1205K|KDM6A_ENST00000543216.1_Missense_Mutation_p.E1119K	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1198	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GCCCAATCTTGAAGATCTTTA	0.363			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)											129.0	109.0	116.0					X																	44949031		2203	4300	6503	SO:0001583	missense	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3592G>A	X.37:g.44949031G>A	ENSP00000367203:p.Glu1198Lys		Q52LL9|Q5JVQ7	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E1205K	ENST00000377967.4	37	c.3613	CCDS14265.1	X	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128623	0.56721	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51	5.16	4.29	0.51040	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.044640	0.85682	N	0.000000	T	0.79793	0.4507	M	0.64260	1.97	0.80722	D	1	B;P;P;B;P	0.49358	0.018;0.578;0.923;0.428;0.889	B;B;P;P;P	0.60949	0.032;0.204;0.856;0.456;0.881	T	0.81132	-0.1072	10	0.87932	D	0	-16.1739	13.1528	0.59498	0.0799:0.0:0.9201:0.0	.	837;1205;1153;1250;1198	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;O15550	.;.;.;.;KDM6A_HUMAN	K	895;1198;1153;1205;1119	ENSP00000367203:E1198K;ENSP00000437405:E1153K;ENSP00000372355:E1205K;ENSP00000443078:E1119K	ENSP00000334340:E895K	E	+	1	0	KDM6A	44833975	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.358000	0.97109	0.968000	0.38212	0.468000	0.43344	GAA	KDM6A	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom		0.363	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	G	NM_021140		44949031	+1	no_errors	ENST00000382899	ensembl	human	known	70_37	missense	SNP	1.000	A
GLTSCR1L	23506	genome.wustl.edu	37	6	42796330	42796330	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:42796330G>C	ENST00000314073.5	+	6	435	c.259G>C	c.(259-261)Gat>Cat	p.D87H	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.D87H			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	87																	GTTTCTTGAAGATGAACTCGA	0.468																																																	0													114.0	99.0	104.0					6																	42796330		2203	4300	6503	SO:0001583	missense	23506			AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.259G>C	6.37:g.42796330G>C	ENSP00000313933:p.Asp87His		A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	NULL	p.D87H	ENST00000314073.5	37	c.259	CCDS34451.1	6	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344045	0.61073	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.69806	-0.43;-0.43	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000001	T	0.79587	0.4471	M	0.68593	2.085	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.988;0.998;0.996	T	0.79463	-0.1793	10	0.87932	D	0	-21.3665	20.4375	0.99097	0.0:0.0:1.0:0.0	.	87;87;87	F5H616;Q6AI39;B7Z2G7	.;K0240_HUMAN;.	H	87	ENSP00000313933:D87H;ENSP00000377723:D87H	ENSP00000313933:D87H	D	+	1	0	KIAA0240	42904308	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.219000	0.78000	2.906000	0.99361	0.655000	0.94253	GAT	KIAA0240	-	NULL		0.468	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0240	HGNC	protein_coding	OTTHUMT00000040562.3	G	NM_015349		42796330	+1	no_errors	ENST00000314073	ensembl	human	known	70_37	missense	SNP	1.000	C
AREL1	9870	genome.wustl.edu	37	14	75150065	75150065	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr14:75150065C>T	ENST00000356357.4	-	5	930	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	139					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										ACTGTGATTTCATAACGCCCA	0.448																																																	0													130.0	123.0	125.0					14																	75150065		1887	4116	6003	SO:0001583	missense	9870			AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.415G>A	14.37:g.75150065C>T	ENSP00000348714:p.Glu139Lys		B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	pfam_HECT,pfam_Filamin/ABP280_repeat-like,superfamily_HECT,superfamily_Ig_E-set,smart_HECT,pfscan_Filamin/ABP280_repeat-like,pfscan_HECT	p.E139K	ENST00000356357.4	37	c.415	CCDS41971.1	14	.	.	.	.	.	.	.	.	.	.	C	8.399	0.841531	0.16963	.	.	ENSG00000119682	ENST00000356357	T	0.52057	0.68	5.65	5.65	0.86999	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.135925	0.64402	D	0.000003	T	0.28699	0.0711	N	0.24115	0.695	0.58432	D	0.999992	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.11690	-1.0577	10	0.05959	T	0.93	.	10.4486	0.44509	0.0:0.7944:0.134:0.0716	.	139;139	O15033-2;O15033	.;K0317_HUMAN	K	139	ENSP00000348714:E139K	ENSP00000348714:E139K	E	-	1	0	KIAA0317	74219818	1.000000	0.71417	0.916000	0.36221	0.294000	0.27393	4.592000	0.61027	2.662000	0.90505	0.563000	0.77884	GAA	KIAA0317	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,pfscan_Filamin/ABP280_repeat-like		0.448	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0317	HGNC	protein_coding	OTTHUMT00000335517.2	C	NM_014821		75150065	-1	no_errors	ENST00000356357	ensembl	human	known	70_37	missense	SNP	0.996	T
KIF7	374654	genome.wustl.edu	37	15	90189155	90189155	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:90189155C>T	ENST00000394412.3	-	8	1967	c.1891G>A	c.(1891-1893)Gag>Aag	p.E631K		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	631	Poly-Glu.|Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CTGGGCGGctcctcctcctcc	0.637																																																	0													98.0	91.0	93.0					15																	90189155		2200	4299	6499	SO:0001583	missense	374654			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.1891G>A	15.37:g.90189155C>T	ENSP00000377934:p.Glu631Lys		Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E631K	ENST00000394412.3	37	c.1891	CCDS32325.2	15	.	.	.	.	.	.	.	.	.	.	c	8.906	0.957459	0.18507	.	.	ENSG00000166813	ENST00000394412	T	0.69926	-0.44	3.55	1.53	0.23141	.	0.520994	0.19517	N	0.112376	T	0.52549	0.1741	L	0.50333	1.59	0.29330	N	0.866753	B;B	0.28291	0.206;0.0	B;B	0.25140	0.058;0.001	T	0.43410	-0.9393	10	0.07813	T	0.8	.	10.241	0.43312	0.0:0.6406:0.3594:0.0	.	118;631	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	K	631	ENSP00000377934:E631K	ENSP00000377934:E631K	E	-	1	0	KIF7	87990159	0.344000	0.24827	0.302000	0.25058	0.387000	0.30353	1.535000	0.36061	0.240000	0.21263	0.546000	0.68486	GAG	KIF7	-	NULL		0.637	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF7	HGNC	protein_coding	OTTHUMT00000347782.1	C	NM_198525		90189155	-1	no_errors	ENST00000394412	ensembl	human	known	70_37	missense	SNP	0.998	T
KLF15	28999	genome.wustl.edu	37	3	126071245	126071245	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:126071245G>A	ENST00000296233.3	-	2	751	c.521C>T	c.(520-522)tCa>tTa	p.S174L	KLF15_ENST00000509675.1_5'Flank	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	174					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		TGGCCCAGCTGAGAGCTGGCT	0.622																																																	0													41.0	46.0	44.0					3																	126071245		2203	4300	6503	SO:0001583	missense	28999			AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	14536	protein-coding gene	gene with protein product	"""kidney-enriched Kruppel-like factor"""	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.521C>T	3.37:g.126071245G>A	ENSP00000296233:p.Ser174Leu			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S174L	ENST00000296233.3	37	c.521	CCDS3036.1	3	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289056	0.23478	.	.	ENSG00000163884	ENST00000296233	T	0.08546	3.08	4.25	2.44	0.29823	.	0.478642	0.23868	N	0.043761	T	0.09335	0.0230	L	0.59436	1.845	0.09310	N	1	B	0.24186	0.099	B	0.27608	0.081	T	0.21449	-1.0245	10	0.46703	T	0.11	.	6.6755	0.23092	0.3123:0.0:0.6877:0.0	.	174	Q9UIH9	KLF15_HUMAN	L	174	ENSP00000296233:S174L	ENSP00000296233:S174L	S	-	2	0	KLF15	127553935	0.989000	0.36119	0.493000	0.27502	0.800000	0.45204	2.878000	0.48515	0.512000	0.28257	-0.339000	0.08088	TCA	KLF15	-	NULL		0.622	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF15	HGNC	protein_coding	OTTHUMT00000370096.1	G	NM_014079		126071245	-1	no_errors	ENST00000296233	ensembl	human	known	70_37	missense	SNP	0.005	A
KLF6	1316	genome.wustl.edu	37	10	3821734	3821734	+	Silent	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:3821734G>C	ENST00000497571.1	-	4	1109	c.849C>G	c.(847-849)ctC>ctG	p.L283L	KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000542957.1_3'UTR	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	283					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		TGCTCCCTCAGAGGTGCCTCT	0.562																																																	0													89.0	81.0	84.0					10																	3821734		2203	4300	6503	SO:0001819	synonymous_variant	1316			U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	2235	protein-coding gene	gene with protein product	"""GC-rich binding factor"""	602053	"""core promoter element binding protein"""	BCD1, ST12, COPEB		9503030, 9685731	Standard	NM_001300		Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.849C>G	10.37:g.3821734G>C			B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L283	ENST00000497571.1	37	c.849	CCDS7060.1	10																																																																																			KLF6	-	pfscan_Znf_C2H2		0.562	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF6	HGNC	protein_coding	OTTHUMT00000046495.1	G			3821734	-1	no_errors	ENST00000497571	ensembl	human	known	70_37	silent	SNP	1.000	C
KLF6	1316	genome.wustl.edu	37	10	3823849	3823849	+	Missense_Mutation	SNP	G	G	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:3823849G>T	ENST00000497571.1	-	2	920	c.660C>A	c.(658-660)caC>caA	p.H220Q	KLF6_ENST00000469435.1_Missense_Mutation_p.H220Q|KLF6_ENST00000173785.4_Intron|KLF6_ENST00000542957.1_Missense_Mutation_p.H220Q	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	220					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		GCGTCCGCTGGTGTGCTTTCA	0.667											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													53.0	45.0	48.0					10																	3823849		2203	4300	6503	SO:0001583	missense	1316			U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	2235	protein-coding gene	gene with protein product	"""GC-rich binding factor"""	602053	"""core promoter element binding protein"""	BCD1, ST12, COPEB		9503030, 9685731	Standard	NM_001300		Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.660C>A	10.37:g.3823849G>T	ENSP00000419923:p.His220Gln	614	B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H220Q	ENST00000497571.1	37	c.660	CCDS7060.1	10	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070473	0.55539	.	.	ENSG00000067082	ENST00000497571;ENST00000542957;ENST00000469435	D;D;D	0.86865	-2.18;-2.09;-2.09	4.88	-2.01	0.07410	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.93989	0.8075	H	0.95187	3.635	0.53688	D	0.999975	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.989;0.982	D	0.92121	0.5704	10	0.87932	D	0	.	10.616	0.45451	0.5629:0.0:0.4371:0.0	.	220;220;220	F5H3M5;Q99612-2;Q99612	.;.;KLF6_HUMAN	Q	220	ENSP00000419923:H220Q;ENSP00000445301:H220Q;ENSP00000419079:H220Q	ENSP00000419079:H220Q	H	-	3	2	KLF6	3813849	1.000000	0.71417	0.949000	0.38748	0.963000	0.63663	1.066000	0.30604	-0.721000	0.04929	-0.605000	0.04089	CAC	KLF6	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.667	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF6	HGNC	protein_coding	OTTHUMT00000046495.1	G			3823849	-1	no_errors	ENST00000497571	ensembl	human	known	70_37	missense	SNP	0.997	T
JPH3	57338	genome.wustl.edu	37	16	87734572	87734572	+	IGR	SNP	G	G	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr16:87734572G>T	ENST00000284262.2	+	0	3985				FLJ00104_ENST00000446344.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3						calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CGTGTCAGGTGAGGCAGTCGG	0.612																																																	0																																										SO:0001628	intergenic_variant	54758			AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656		16.37:g.87734572G>T			D3DUN2|Q8N471|Q9HDC3|Q9HDC4	RNA	SNP	-	NULL	ENST00000284262.2	37	NULL	CCDS10962.1	16																																																																																			KLHDC4	-	-		0.612	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC4	HGNC	protein_coding	OTTHUMT00000269108.2	G			87734572	-1	no_errors	ENST00000568346	ensembl	human	known	70_37	rna	SNP	0.000	T
KLHL7	55975	genome.wustl.edu	37	7	23164752	23164752	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:23164752G>C	ENST00000339077.5	+	4	646	c.403G>C	c.(403-405)Gat>Cat	p.D135H	KLHL7_ENST00000545771.1_Missense_Mutation_p.D113H|KLHL7_ENST00000539124.1_Missense_Mutation_p.D59H|KLHL7_ENST00000545443.1_Missense_Mutation_p.D113H|KLHL7_ENST00000479288.1_Intron|KLHL7_ENST00000322231.7_Missense_Mutation_p.D113H|KLHL7_ENST00000409689.1_Missense_Mutation_p.D87H|KLHL7_ENST00000410047.1_Missense_Mutation_p.D113H|KLHL7_ENST00000542558.1_Intron|KLHL7_ENST00000322275.5_Missense_Mutation_p.D135H	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	135					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AATGTGTGTTGATTTTTTGAA	0.313																																																	0													99.0	103.0	101.0					7																	23164752		2203	4299	6502	SO:0001583	missense	55975				CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.403G>C	7.37:g.23164752G>C	ENSP00000343273:p.Asp135His		A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.D135H	ENST00000339077.5	37	c.403	CCDS34609.1	7	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888858	0.91814	.	.	ENSG00000122550	ENST00000322231;ENST00000339077;ENST00000322275;ENST00000539124;ENST00000409689;ENST00000410047;ENST00000545771;ENST00000545443	T;T;T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	5.78	5.78	0.91487	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.048554	0.85682	D	0.000000	T	0.81118	0.4756	L	0.57536	1.79	0.80722	D	1	D;P;P;P;D	0.64830	0.994;0.832;0.799;0.937;0.98	P;P;B;P;P	0.60473	0.875;0.499;0.366;0.694;0.847	T	0.78949	-0.2002	10	0.45353	T	0.12	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	113;135;113;135;113	F5GYE2;Q8IXQ5;Q8IXQ5-2;Q8IXQ5-3;Q8IXQ5-4	.;KLHL7_HUMAN;.;.;.	H	113;135;135;59;87;113;113;113	ENSP00000322958:D113H;ENSP00000343273:D135H;ENSP00000323270:D135H;ENSP00000441136:D59H;ENSP00000386263:D87H;ENSP00000386999:D113H;ENSP00000446445:D113H;ENSP00000442366:D113H	ENSP00000322958:D113H	D	+	1	0	KLHL7	23131277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.143000	0.94623	2.894000	0.99253	0.655000	0.94253	GAT	KLHL7	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin		0.313	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL7	HGNC	protein_coding	OTTHUMT00000326860.3	G	NM_018846		23164752	+1	no_errors	ENST00000339077	ensembl	human	known	70_37	missense	SNP	1.000	C
LAMA1	284217	genome.wustl.edu	37	18	7011412	7011412	+	Missense_Mutation	SNP	C	C	T	rs368852040		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr18:7011412C>T	ENST00000389658.3	-	25	3667	c.3574G>A	c.(3574-3576)Gag>Aag	p.E1192K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1192	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TAAACCCCCTCGGTCGTGCCC	0.597																																																	0								C	LYS/GLU	0,4406		0,0,2203	28.0	29.0	29.0		3574	-0.3	0.0	18		29	1,8597		0,1,4298	no	missense	LAMA1	NM_005559.3	56	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1192/3076	7011412	1,13003	2203	4299	6502	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3574G>A	18.37:g.7011412C>T	ENSP00000374309:p.Glu1192Lys			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.E1192K	ENST00000389658.3	37	c.3574	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	C	7.289	0.610658	0.14066	0.0	1.16E-4	ENSG00000101680	ENST00000389658	T	0.17528	2.27	5.87	-0.303	0.12792	Laminin B type IV (1);	0.329441	0.28583	N	0.014839	T	0.10508	0.0257	L	0.42581	1.335	0.09310	N	0.999998	B	0.20988	0.05	B	0.12837	0.008	T	0.41413	-0.9510	10	0.07644	T	0.81	.	8.2861	0.31930	0.0:0.5312:0.2936:0.1752	.	1192	P25391	LAMA1_HUMAN	K	1192	ENSP00000374309:E1192K	ENSP00000374309:E1192K	E	-	1	0	LAMA1	7001412	0.004000	0.15560	0.039000	0.18376	0.809000	0.45718	0.086000	0.14935	-0.108000	0.12066	0.643000	0.83706	GAG	LAMA1	-	pfscan_Laminin_B_type_IV		0.597	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	C	NM_005559		7011412	-1	no_errors	ENST00000389658	ensembl	human	known	70_37	missense	SNP	0.022	T
LDHC	3948	genome.wustl.edu	37	11	18434310	18434310	+	Missense_Mutation	SNP	G	G	A	rs372373685		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:18434310G>A	ENST00000541669.1	+	2	157	c.46G>A	c.(46-48)Gat>Aat	p.D16N	LDHC_ENST00000544105.1_Missense_Mutation_p.D16N|LDHC_ENST00000546146.1_Missense_Mutation_p.D16N|LDHC_ENST00000537486.1_Missense_Mutation_p.D16N|LDHC_ENST00000280704.4_Missense_Mutation_p.D16N|LDHC_ENST00000535809.1_Missense_Mutation_p.D16N|LDHC_ENST00000536880.1_Missense_Mutation_p.D16N			P07864	LDHC_HUMAN	lactate dehydrogenase C	16					ATP biosynthetic process (GO:0006754)|cellular carbohydrate metabolic process (GO:0044262)|lactate biosynthetic process from pyruvate (GO:0019244)|lactate oxidation (GO:0019516)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|motile cilium (GO:0031514)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AATTGAGGATGATGAAAACTC	0.413																																																	0													152.0	146.0	148.0					11																	18434310		2199	4293	6492	SO:0001583	missense	3948			AY286300	CCDS7840.1	11p15.1	2012-10-02			ENSG00000166796	ENSG00000166796	1.1.1.27		6544	protein-coding gene	gene with protein product	"""cancer/testis antigen 32"""	150150					Standard	NM_002301		Approved	CT32	uc001mom.4	P07864	OTTHUMG00000167722	ENST00000541669.1:c.46G>A	11.37:g.18434310G>A	ENSP00000437783:p.Asp16Asn		D3DQY4|Q6GSG8|Q7Z7J4	Missense_Mutation	SNP	pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH	p.D16N	ENST00000541669.1	37	c.46	CCDS7840.1	11	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962690	0.53507	.	.	ENSG00000166796	ENST00000541669;ENST00000280704;ENST00000546146;ENST00000536880;ENST00000537486;ENST00000544105;ENST00000535809	D;D;D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63;-2.63;-2.63	5.38	5.38	0.77491	NAD(P)-binding domain (1);	0.470425	0.23983	N	0.042642	D	0.88157	0.6361	L	0.54323	1.7	0.31707	N	0.640046	B;B	0.14438	0.01;0.002	B;B	0.11329	0.006;0.001	D	0.85496	0.1188	10	0.40728	T	0.16	-8.9476	14.5121	0.67794	0.0:0.0:1.0:0.0	.	16;16	G3XAP5;P07864	.;LDHC_HUMAN	N	16	ENSP00000437783:D16N;ENSP00000280704:D16N;ENSP00000443414:D16N;ENSP00000439555:D16N;ENSP00000441478:D16N;ENSP00000439060:D16N;ENSP00000443997:D16N	ENSP00000280704:D16N	D	+	1	0	LDHC	18390886	1.000000	0.71417	0.307000	0.25127	0.002000	0.02628	4.724000	0.61972	2.793000	0.96121	0.655000	0.94253	GAT	LDHC	-	NULL		0.413	LDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDHC	HGNC	protein_coding	OTTHUMT00000395892.1	G	NM_017448		18434310	+1	no_errors	ENST00000280704	ensembl	human	known	70_37	missense	SNP	0.805	A
LHCGR	3973	genome.wustl.edu	37	2	48935993	48935993	+	Intron	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:48935993C>T	ENST00000294954.7	-	8	702				STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_Intron|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000405626.1_Intron|LHCGR_ENST00000344775.3_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor						activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GCTGATGTCTCACATATCAGC	0.507																																																	0																																										SO:0001627	intron_variant	3973				CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.680+93G>A	2.37:g.48935993C>T			Q14751|Q15996|Q9UEW9	RNA	SNP	-	NULL	ENST00000294954.7	37	NULL	CCDS1842.1	2																																																																																			LHCGR	-	-		0.507	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHCGR	HGNC	protein_coding	OTTHUMT00000251364.4	C	NM_000233.3		48935993	-1	no_errors	ENST00000477576	ensembl	human	known	70_37	rna	SNP	0.000	T
LIMK2	3985	genome.wustl.edu	37	22	31668686	31668686	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr22:31668686G>A	ENST00000331728.4	+	13	1668	c.1554G>A	c.(1552-1554)ctG>ctA	p.L518L	LIMK2_ENST00000406516.1_Silent_p.L440L|LIMK2_ENST00000444929.2_Silent_p.L272L|LIMK2_ENST00000467301.1_3'UTR|LIMK2_ENST00000333611.4_Silent_p.L497L|LIMK2_ENST00000340552.4_Silent_p.L497L	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	518	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CTGAGATGCTGAACGGTGAGT	0.612											OREG0026477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													55.0	53.0	53.0					22																	31668686		2203	4300	6503	SO:0001819	synonymous_variant	3985			D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1554G>A	22.37:g.31668686G>A		826	A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L518	ENST00000331728.4	37	c.1554	CCDS13891.1	22																																																																																			LIMK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.612	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK2	HGNC	protein_coding	OTTHUMT00000321911.1	G	NM_016733		31668686	+1	no_errors	ENST00000331728	ensembl	human	known	70_37	silent	SNP	0.984	A
LINGO1	84894	genome.wustl.edu	37	15	77907516	77907516	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:77907516C>G	ENST00000355300.6	-	2	907	c.733G>C	c.(733-735)Gag>Cag	p.E245Q	LINGO1_ENST00000561030.1_Missense_Mutation_p.E239Q	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	245					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						TGGGAGATCTCCAAGACCTTG	0.582																																																	0													126.0	134.0	131.0					15																	77907516		2179	4277	6456	SO:0001583	missense	84894			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.733G>C	15.37:g.77907516C>G	ENSP00000347451:p.Glu245Gln		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E245Q	ENST00000355300.6	37	c.733	CCDS45313.1	15	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999226	0.54147	.	.	ENSG00000169783	ENST00000355300	T	0.53423	0.62	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.49150	0.1540	M	0.73598	2.24	0.80722	D	1	P	0.39116	0.66	B	0.31547	0.132	T	0.55451	-0.8139	10	0.44086	T	0.13	.	19.3317	0.94293	0.0:1.0:0.0:0.0	.	245	Q96FE5	LIGO1_HUMAN	Q	245	ENSP00000347451:E245Q	ENSP00000347451:E245Q	E	-	1	0	LINGO1	75694571	1.000000	0.71417	0.998000	0.56505	0.932000	0.56968	7.818000	0.86416	2.582000	0.87167	0.561000	0.74099	GAG	LINGO1	-	NULL		0.582	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO1	HGNC	protein_coding	OTTHUMT00000419546.1	C	NM_032808		77907516	-1	no_errors	ENST00000355300	ensembl	human	known	70_37	missense	SNP	1.000	G
LLGL2	3993	genome.wustl.edu	37	17	73566530	73566530	+	Missense_Mutation	SNP	G	G	A	rs199973131		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:73566530G>A	ENST00000392550.3	+	16	2093	c.1976G>A	c.(1975-1977)cGg>cAg	p.R659Q	LLGL2_ENST00000167462.5_Missense_Mutation_p.R659Q|LLGL2_ENST00000577200.1_Missense_Mutation_p.R659Q	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	659					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CGGATGCGTCGGAGCCGGGTG	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		14258	0.0		0.0	False		,,,				2504	0.001																0													23.0	20.0	21.0					17																	73566530		2194	4292	6486	SO:0001583	missense	3993			X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1976G>A	17.37:g.73566530G>A	ENSP00000376333:p.Arg659Gln		Q14521|Q9BR62	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant	p.R659Q	ENST00000392550.3	37	c.1976	CCDS32733.1	17	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268538	0.40095	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.42900	0.96;0.96	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.57504	0.2058	M	0.69823	2.125	0.46336	D	0.998991	B;D;D;P;B	0.64830	0.446;0.99;0.994;0.644;0.169	B;P;P;B;B	0.53593	0.22;0.542;0.73;0.147;0.03	T	0.62553	-0.6830	10	0.54805	T	0.06	8.6368	18.2389	0.89960	0.0:0.0:1.0:0.0	.	286;648;648;659;659	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	Q	659;659;648	ENSP00000167462:R659Q;ENSP00000376333:R659Q	ENSP00000167462:R659Q	R	+	2	0	LLGL2	71078125	0.978000	0.34361	0.806000	0.32338	0.137000	0.21094	4.908000	0.63307	2.314000	0.78098	0.549000	0.68633	CGG	LLGL2	-	NULL		0.692	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LLGL2	HGNC	protein_coding	OTTHUMT00000447633.1	G	NM_004524		73566530	+1	no_errors	ENST00000392550	ensembl	human	known	70_37	missense	SNP	0.927	A
LMBR1L	55716	genome.wustl.edu	37	12	49498592	49498592	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr12:49498592C>T	ENST00000267102.8	-	4	610	c.268G>A	c.(268-270)Gag>Aag	p.E90K	LMBR1L_ENST00000395141.4_Missense_Mutation_p.E85K|LMBR1L_ENST00000553204.1_5'UTR|LMBR1L_ENST00000547382.1_Missense_Mutation_p.E90K	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	90					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGCAGCACCTCATTGCTGATG	0.592																																																	0													127.0	90.0	103.0					12																	49498592		2203	4300	6503	SO:0001583	missense	55716			AB033000	CCDS8780.2, CCDS73466.1	12q13.12	2013-08-05	2013-08-05		ENSG00000139636	ENSG00000139636			18268	protein-coding gene	gene with protein product		610007	"""limb region 1 homolog (mouse)-like"""			10574461, 11287427	Standard	XM_005269022		Approved	FLJ10494, KIAA1174	uc001rth.4	Q6UX01	OTTHUMG00000150511	ENST00000267102.8:c.268G>A	12.37:g.49498592C>T	ENSP00000267102:p.Glu90Lys		Q969J4|Q96BY8|Q96HN8|Q9NT09|Q9NVE1|Q9NVU9|Q9ULP6	Missense_Mutation	SNP	pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt	p.E90K	ENST00000267102.8	37	c.268	CCDS8780.2	12	.	.	.	.	.	.	.	.	.	.	C	36	5.804786	0.96967	.	.	ENSG00000139636	ENST00000267102;ENST00000547382;ENST00000395141;ENST00000547675;ENST00000551854;ENST00000551782	T;T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12;1.12	6.07	6.07	0.98685	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.69708	0.3141	M	0.82517	2.595	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.998	D;D;D	0.81914	0.987;0.995;0.994	T	0.71984	-0.4427	10	0.87932	D	0	.	19.4154	0.94694	0.0:1.0:0.0:0.0	.	90;90;85	Q6UX01-3;Q6UX01;Q6UX01-4	.;LMBRL_HUMAN;.	K	90;90;85;90;95;90	ENSP00000267102:E90K;ENSP00000447329:E90K;ENSP00000378573:E85K;ENSP00000447240:E90K;ENSP00000446641:E95K;ENSP00000449633:E90K	ENSP00000267102:E90K	E	-	1	0	LMBR1L	47784859	1.000000	0.71417	0.991000	0.47740	0.890000	0.51754	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	GAG	LMBR1L	-	pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt		0.592	LMBR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBR1L	HGNC	protein_coding	OTTHUMT00000318696.1	C	NM_018113		49498592	-1	no_errors	ENST00000267102	ensembl	human	known	70_37	missense	SNP	1.000	T
LMBRD1	55788	genome.wustl.edu	37	6	70411822	70411822	+	Silent	SNP	G	G	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:70411822G>T	ENST00000370577.3	-	10	1168	c.939C>A	c.(937-939)atC>atA	p.I313I	LMBRD1_ENST00000370570.1_Silent_p.I240I	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	313					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ATGCAACTAAGATGAAAAATA	0.249																																																	0													58.0	58.0	58.0					6																	70411822		2202	4286	6488	SO:0001819	synonymous_variant	55788			AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"""chromosome 6 open reading frame 209"""	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.939C>A	6.37:g.70411822G>T			A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Silent	SNP	pfam_LMBR1-like_membr_prot	p.I313	ENST00000370577.3	37	c.939	CCDS4969.1	6																																																																																			LMBRD1	-	NULL		0.249	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBRD1	HGNC	protein_coding	OTTHUMT00000041124.1	G	NM_018368		70411822	-1	no_errors	ENST00000370577	ensembl	human	known	70_37	silent	SNP	1.000	T
LMOD3	56203	genome.wustl.edu	37	3	69171455	69171455	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:69171455G>A	ENST00000420581.2	-	1	262	c.83C>T	c.(82-84)tCt>tTt	p.S28F	LMOD3_ENST00000475434.1_Missense_Mutation_p.S28F|LMOD3_ENST00000489031.1_Missense_Mutation_p.S28F	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	28						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TTCTTCAGCAGACAAGTTGGC	0.418																																																	0													61.0	58.0	59.0					3																	69171455		1863	4104	5967	SO:0001583	missense	56203			AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.83C>T	3.37:g.69171455G>A	ENSP00000414670:p.Ser28Phe		B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	pfam_Tropomodulin	p.S28F	ENST00000420581.2	37	c.83	CCDS46862.1	3	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367360	0.82463	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	T;T;T	0.37752	1.18;1.18;1.18	5.59	5.59	0.84812	.	0.104278	0.64402	D	0.000002	T	0.68622	0.3021	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74515	-0.3640	10	0.87932	D	0	-18.1741	19.585	0.95487	0.0:0.0:1.0:0.0	.	28	Q0VAK6	LMOD3_HUMAN	F	28	ENSP00000414670:S28F;ENSP00000417210:S28F;ENSP00000418645:S28F	ENSP00000414670:S28F	S	-	2	0	LMOD3	69254145	1.000000	0.71417	0.981000	0.43875	0.594000	0.36715	9.869000	0.99810	2.646000	0.89796	0.591000	0.81541	TCT	LMOD3	-	pfam_Tropomodulin		0.418	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMOD3	HGNC	protein_coding	OTTHUMT00000352138.1	G	XM_067529		69171455	-1	no_errors	ENST00000420581	ensembl	human	known	70_37	missense	SNP	1.000	A
LOC100128714	100128714	genome.wustl.edu	37	15	26260632	26260632	+	lincRNA	SNP	C	C	T	rs574903256		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:26260632C>T	ENST00000383019.2	+	0	359					NR_040082.1																						CTGTCGCCCCCGTCTGCGTTC	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		15717	0.0		0.0	False		,,,				2504	0.001																0																																												100128714																															15.37:g.26260632C>T				RNA	SNP	-	NULL	ENST00000383019.2	37	NULL		15																																																																																			RP11-1084I9.1	-	-		0.592	RP11-1084I9.1-001	KNOWN	basic	lincRNA	LOC100128714	Clone_based_vega_gene	lincRNA	OTTHUMT00000414884.1	C			26260632	+1	no_errors	ENST00000383019	ensembl	human	known	70_37	rna	SNP	0.000	T
VPS9D1	9605	genome.wustl.edu	37	16	89784087	89784087	+	Intron	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr16:89784087G>A	ENST00000389386.3	-	3	300				VPS9D1_ENST00000561976.1_Intron|VPS9D1-AS1_ENST00000562866.1_RNA|ZNF276_ENST00000446326.2_5'Flank|VPS9D1-AS1_ENST00000562298.1_RNA	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1						ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										TGCCAGACACGGTGGGCCACT	0.592																																																	0																																										SO:0001627	intron_variant	100128881			AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 7"""	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.176-857C>T	16.37:g.89784087G>A				RNA	SNP	-	NULL	ENST00000389386.3	37	NULL	CCDS42220.1	16																																																																																			RP11-368I7.2	-	-		0.592	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	LOC100128881	Clone_based_vega_gene	protein_coding	OTTHUMT00000422508.1	G	NM_004913		89784087	+1	no_errors	ENST00000562298	ensembl	human	known	70_37	rna	SNP	0.000	A
PTCHD3P1	387647	genome.wustl.edu	37	10	29704295	29704295	+	RNA	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:29704295G>C	ENST00000427063.2	+	0	97				PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000430295.1_RNA|PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000609413.1_RNA|PTCHD3P1_ENST00000608994.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000537908.1_RNA|PTCHD3P1_ENST00000423223.1_RNA	NR_003930.1				patched domain containing 3 pseudogene 1																		GCCTGCTCTTGAGGTTCACAG	0.333																																																	0																																												387647					10p11.23	2014-08-07			ENSG00000274985	ENSG00000224597			44945	pseudogene	pseudogene							Standard	NG_034006		Approved		uc001iuq.2		OTTHUMG00000187781		10.37:g.29704295G>C				RNA	SNP	-	NULL	ENST00000427063.2	37	NULL		10																																																																																			RP11-534G20.3	-	-		0.333	PTCHD3P1-003	KNOWN	basic	antisense	LOC387647	Clone_based_vega_gene	antisense	OTTHUMT00000047385.1	G	NG_034006		29704295	+1	no_errors	ENST00000413405	ensembl	human	known	70_37	rna	SNP	0.983	C
LOC101929232	101929232	genome.wustl.edu	37	15	29064065	29064065	+	IGR	SNP	A	A	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:29064065A>G								RP11-578F21.12 (10621 upstream) : GOLGA6L7P (26041 downstream)																							CAATGAGTTGACTGAAATCCT	0.328																																																	0																																										SO:0001628	intergenic_variant	646278																															15.37:g.29064065A>G				RNA	SNP	-	NULL		37	NULL		15																																																																																			RP11-578F21.12	-	-	0	0.328					LOC646278	Clone_based_vega_gene			A			29064065	+1	no_errors	ENST00000563202	ensembl	human	putative	70_37	rna	SNP	1.000	G
LPCAT1	79888	genome.wustl.edu	37	5	1479738	1479738	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:1479738C>G	ENST00000283415.3	-	8	946	c.814G>C	c.(814-816)Gag>Cag	p.E272Q		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	272					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		ATACGAACCTCGATTTCCACT	0.463											OREG0016481	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													184.0	133.0	150.0					5																	1479738		2203	4300	6503	SO:0001583	missense	79888			BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"""EF-hand domain containing"""	25718	protein-coding gene	gene with protein product		610472	"""acyltransferase like 2"""	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.814G>C	5.37:g.1479738C>G	ENSP00000283415:p.Glu272Gln	596	Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E272Q	ENST00000283415.3	37	c.814	CCDS3864.1	5	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966140	0.53507	.	.	ENSG00000153395	ENST00000283415	D	0.93604	-3.25	3.71	3.71	0.42584	.	0.000000	0.85682	D	0.000000	D	0.96228	0.8770	M	0.84773	2.715	0.58432	D	0.999999	D	0.67145	0.996	D	0.63033	0.91	D	0.96120	0.9084	10	0.45353	T	0.12	-37.4174	15.1237	0.72465	0.0:1.0:0.0:0.0	.	272	Q8NF37	PCAT1_HUMAN	Q	272	ENSP00000283415:E272Q	ENSP00000283415:E272Q	E	-	1	0	LPCAT1	1532738	1.000000	0.71417	0.089000	0.20774	0.149000	0.21700	6.052000	0.71080	2.025000	0.59659	0.561000	0.74099	GAG	LPCAT1	-	NULL		0.463	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT1	HGNC	protein_coding	OTTHUMT00000304032.1	C	NM_024830		1479738	-1	no_errors	ENST00000283415	ensembl	human	known	70_37	missense	SNP	1.000	G
PLPPR2	64748	genome.wustl.edu	37	19	11472092	11472092	+	Silent	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:11472092C>T	ENST00000251473.5	+	6	967	c.591C>T	c.(589-591)ctC>ctT	p.L197L	DKFZP761J1410_ENST00000591608.1_Silent_p.L172L	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					GTCCCAGCCTCGTGGCCGCCG	0.701																																																	0													31.0	31.0	31.0					19																	11472092		2199	4298	6497	SO:0001819	synonymous_variant	64748																														ENST00000251473.5:c.591C>T	19.37:g.11472092C>T				Silent	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.L172	ENST00000251473.5	37	c.516	CCDS12258.1	19																																																																																			LPPR2	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase		0.701	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR2	Uniprot_genename	protein_coding	OTTHUMT00000458779.1	C			11472092	+1	no_errors	ENST00000591608	ensembl	human	known	70_37	silent	SNP	0.955	T
LRCH2	57631	genome.wustl.edu	37	X	114347796	114347796	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:114347796G>A	ENST00000317135.8	-	21	2311	c.2281C>T	c.(2281-2283)Cag>Tag	p.Q761*	LRCH2_ENST00000538422.1_Nonsense_Mutation_p.Q744*	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	761										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						ACAGAAAGCTGAGATGCCTTG	0.328																																																	0													60.0	52.0	55.0					X																	114347796		1829	4075	5904	SO:0001587	stop_gained	57631			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.2281C>T	X.37:g.114347796G>A	ENSP00000325091:p.Gln761*		F5H2T1|Q08AD5|Q9HA88|Q9P233	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold-like,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.Q761*	ENST00000317135.8	37	c.2281	CCDS48155.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.062050	0.97246	.	.	ENSG00000130224	ENST00000317135;ENST00000536655;ENST00000538422	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.49798	D	0.999821	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-4.4032	16.1874	0.81962	0.0:0.0:1.0:0.0	.	.	.	.	X	761;240;744	.	ENSP00000325091:Q761X	Q	-	1	0	LRCH2	114254052	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.001000	0.93568	2.124000	0.65301	0.529000	0.55759	CAG	LRCH2	-	superfamily_CH-domain		0.328	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRCH2	HGNC	protein_coding	OTTHUMT00000057971.2	G	NM_020871		114347796	-1	no_errors	ENST00000317135	ensembl	human	known	70_37	nonsense	SNP	1.000	A
LRCH4	4034	genome.wustl.edu	37	7	100172787	100172787	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:100172787G>A	ENST00000310300.6	-	18	2047	c.1995C>T	c.(1993-1995)ttC>ttT	p.F665F	SAP25_ENST00000538735.1_5'Flank|LRCH4_ENST00000497245.1_Silent_p.F213F	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	665					nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGACCACGTAGAAGACGACGA	0.672																																																	0													57.0	48.0	51.0					7																	100172787		2203	4299	6502	SO:0001819	synonymous_variant	4034			AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.1995C>T	7.37:g.100172787G>A			A4D2D5|Q8WV85|Q96ID0	Silent	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.F665	ENST00000310300.6	37	c.1995	CCDS34706.1	7																																																																																			LRCH4	-	NULL		0.672	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRCH4	HGNC	protein_coding	OTTHUMT00000356110.1	G	NM_002319		100172787	-1	no_errors	ENST00000310300	ensembl	human	known	70_37	silent	SNP	1.000	A
LRP1B	53353	genome.wustl.edu	37	2	141093401	141093401	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:141093401C>G	ENST00000389484.3	-	78	12870	c.11899G>C	c.(11899-11901)Gaa>Caa	p.E3967Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3967					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTTTAAATTCAGGACACTAC	0.398										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													85.0	83.0	84.0					2																	141093401		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11899G>C	2.37:g.141093401C>G	ENSP00000374135:p.Glu3967Gln		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.E3967Q	ENST00000389484.3	37	c.11899	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721877	0.68959	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91351	-2.83	5.43	5.43	0.79202	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.132411	0.49916	D	0.000130	D	0.87970	0.6312	L	0.38175	1.15	0.41939	D	0.990606	P	0.42827	0.791	B	0.43413	0.419	D	0.85213	0.1022	10	0.16896	T	0.51	.	19.6188	0.95647	0.0:1.0:0.0:0.0	.	3967	Q9NZR2	LRP1B_HUMAN	Q	3967;3905	ENSP00000374135:E3967Q	ENSP00000374135:E3967Q	E	-	1	0	LRP1B	140809871	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.356000	0.79445	2.699000	0.92147	0.650000	0.86243	GAA	LRP1B	-	superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt		0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	C	NM_018557		141093401	-1	no_errors	ENST00000389484	ensembl	human	known	70_37	missense	SNP	1.000	G
LRRC37A2	474170	genome.wustl.edu	37	17	44626600	44626600	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:44626600G>A	ENST00000576629.1	+	10	4590	c.4095G>A	c.(4093-4095)ctG>ctA	p.L1365L	ARL17A_ENST00000337845.7_Intron|LRRC37A2_ENST00000333412.3_Silent_p.L1365L|ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000445552.2_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1365						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		TAGGAGACCTGAGTCCTCAAG	0.418																																																	0													17.0	27.0	24.0					17																	44626600		1912	4132	6044	SO:0001819	synonymous_variant	474170			AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"""c114 SLIT-like testicular protein"""						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.4095G>A	17.37:g.44626600G>A			B7ZMC3	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L1365	ENST00000576629.1	37	c.4095	CCDS42353.1	17																																																																																			LRRC37A2	-	NULL		0.418	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A2	HGNC	protein_coding	OTTHUMT00000440299.2	G	NM_001006607		44626600	+1	no_errors	ENST00000333412	ensembl	human	known	70_37	silent	SNP	0.000	A
LRRTM3	347731	genome.wustl.edu	37	10	68687183	68687183	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:68687183G>C	ENST00000361320.4	+	2	1087	c.509G>C	c.(508-510)aGa>aCa	p.R170T	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	170					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AACTCCCTGAGAACCATCCCT	0.488																																																	0													85.0	90.0	88.0					10																	68687183		2203	4300	6503	SO:0001583	missense	347731			BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.509G>C	10.37:g.68687183G>C	ENSP00000355187:p.Arg170Thr		A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.R170T	ENST00000361320.4	37	c.509	CCDS7270.1	10	.	.	.	.	.	.	.	.	.	.	G	8.078	0.771757	0.16051	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.56275	0.47	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000001	T	0.24736	0.0600	N	0.00859	-1.14	0.51767	D	0.999939	B;B	0.26318	0.146;0.12	B;B	0.29353	0.101;0.061	T	0.30880	-0.9963	10	0.10111	T	0.7	.	17.9918	0.89171	0.0:0.0:1.0:0.0	.	170;170	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	T	170	ENSP00000355187:R170T	ENSP00000355187:R170T	R	+	2	0	LRRTM3	68357189	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.588000	0.74076	2.538000	0.85594	0.650000	0.86243	AGA	LRRTM3	-	smart_Leu-rich_rpt_typical-subtyp		0.488	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM3	HGNC	protein_coding	OTTHUMT00000048277.2	G	NM_178011		68687183	+1	no_errors	ENST00000361320	ensembl	human	known	70_37	missense	SNP	1.000	C
LZIC	84328	genome.wustl.edu	37	1	9992944	9992944	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:9992944G>A	ENST00000377223.1	-	6	596	c.349C>T	c.(349-351)Ctg>Ttg	p.L117L	LZIC_ENST00000377213.1_Silent_p.L117L|LZIC_ENST00000400903.2_Silent_p.L117L|LZIC_ENST00000541052.1_Silent_p.L138L	NM_032368.3	NP_115744.2	Q8WZA0	LZIC_HUMAN	leucine zipper and CTNNBIP1 domain containing	117					response to ionizing radiation (GO:0010212)					breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.29e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;0.000242)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.00842)|READ - Rectum adenocarcinoma(331;0.0419)		CCTACCATCAGATCTCTATCC	0.388																																																	0													158.0	146.0	150.0					1																	9992944		2203	4299	6502	SO:0001819	synonymous_variant	84328			AB060688	CCDS107.1	1p36.22	2008-02-05			ENSG00000162441	ENSG00000162441			17497	protein-coding gene	gene with protein product		610458				11712074	Standard	NM_032368		Approved	MGC15436	uc001aqm.3	Q8WZA0	OTTHUMG00000001804	ENST00000377223.1:c.349C>T	1.37:g.9992944G>A			B2R6F0|B4E2N0|Q96IU1	Silent	SNP	pfam_ICAT,superfamily_ICAT	p.L138	ENST00000377223.1	37	c.412	CCDS107.1	1																																																																																			LZIC	-	pfam_ICAT,superfamily_ICAT		0.388	LZIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZIC	HGNC	protein_coding	OTTHUMT00000005037.1	G	NM_032368		9992944	-1	no_errors	ENST00000541052	ensembl	human	known	70_37	silent	SNP	0.999	A
MAEA	10296	genome.wustl.edu	37	4	1322572	1322572	+	Intron	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr4:1322572C>T	ENST00000303400.4	+	5	719				MAEA_ENST00000510794.1_Intron|MAEA_ENST00000505839.1_Intron|MAEA_ENST00000514708.1_Intron|MAEA_ENST00000452175.2_Intron|MAEA_ENST00000264750.6_Intron|MAEA_ENST00000505177.2_Intron	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher						cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	GGGTCCTGCTCCGGCTCCTGA	0.672																																																	0																																										SO:0001627	intron_variant	10296			AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"""GID complex subunit 9, FYV10 homolog (S. cerevisiae)"""	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.656+1081C>T	4.37:g.1322572C>T			O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	RNA	SNP	-	NULL	ENST00000303400.4	37	NULL	CCDS33936.1	4																																																																																			MAEA	-	-		0.672	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAEA	HGNC	protein_coding	OTTHUMT00000359511.1	C	NM_005882		1322572	+1	no_errors	ENST00000503693	ensembl	human	known	70_37	rna	SNP	0.043	T
MALAT1	378938	genome.wustl.edu	37	11	65268821	65268821	+	lincRNA	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:65268821C>G	ENST00000534336.1	+	0	3589				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TCAGGATAATCAGACCACCAC	0.383																																																	0													37.0	38.0	38.0					11																	65268821		874	1988	2862			378938			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65268821C>G				RNA	SNP	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-		0.383	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	C	NR_002819		65268821	+1	no_errors	ENST00000534336	ensembl	human	known	70_37	rna	SNP	0.615	G
MALAT1	378938	genome.wustl.edu	37	11	65269862	65269862	+	lincRNA	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:65269862C>G	ENST00000534336.1	+	0	4630					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TTTGTATTATCAAGTAAGATT	0.303																																																	0													22.0	23.0	23.0					11																	65269862		874	1987	2861			378938			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65269862C>G				RNA	SNP	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-		0.303	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	C	NR_002819		65269862	+1	no_errors	ENST00000508832	ensembl	human	known	70_37	rna	SNP	1.000	G
MALAT1	378938	genome.wustl.edu	37	11	65270585	65270585	+	lincRNA	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:65270585C>T	ENST00000534336.1	+	0	5353					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TCGTTTGCCTCAGACAGGTAT	0.423																																																	0													22.0	20.0	21.0					11																	65270585		873	1988	2861			378938			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65270585C>T				RNA	SNP	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-		0.423	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	C	NR_002819		65270585	+1	no_errors	ENST00000508832	ensembl	human	known	70_37	rna	SNP	1.000	T
MALAT1	378938	genome.wustl.edu	37	11	65271612	65271612	+	lincRNA	SNP	C	C	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:65271612C>A	ENST00000534336.1	+	0	6380					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		AGAGGCATTTCATCCTTCATG	0.423																																																	0													26.0	27.0	26.0					11																	65271612		874	1988	2862			378938			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65271612C>A				RNA	SNP	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-		0.423	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	C	NR_002819		65271612	+1	no_errors	ENST00000534336	ensembl	human	known	70_37	rna	SNP	1.000	A
MALAT1	378938	genome.wustl.edu	37	11	65271929	65271929	+	lincRNA	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:65271929C>T	ENST00000534336.1	+	0	6697					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		AAGTTGTGTTCCCCAATGCTT	0.408																																																	0													58.0	56.0	57.0					11																	65271929		874	1988	2862			378938			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65271929C>T				RNA	SNP	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-		0.408	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	C	NR_002819		65271929	+1	no_errors	ENST00000534336	ensembl	human	known	70_37	rna	SNP	0.313	T
MALAT1	378938	genome.wustl.edu	37	11	65272219	65272219	+	lincRNA	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:65272219C>G	ENST00000534336.1	+	0	6987					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TTAAACAGTTCAGTGATCTTT	0.398																																																	0													86.0	84.0	85.0					11																	65272219		874	1988	2862			378938			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65272219C>G				RNA	SNP	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-		0.398	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	C	NR_002819		65272219	+1	no_errors	ENST00000534336	ensembl	human	known	70_37	rna	SNP	1.000	G
MALAT1	378938	genome.wustl.edu	37	11	65273023	65273023	+	lincRNA	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:65273023C>G	ENST00000534336.1	+	0	7791					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		AGCAACTTCTCTGCCACATCG	0.542																																																	0													168.0	151.0	156.0					11																	65273023		874	1988	2862			378938			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65273023C>G				RNA	SNP	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-		0.542	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	C	NR_002819		65273023	+1	no_errors	ENST00000534336	ensembl	human	known	70_37	rna	SNP	1.000	G
MALAT1	378938	genome.wustl.edu	37	11	65273470	65273470	+	lincRNA	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:65273470C>G	ENST00000534336.1	+	0	8238					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GGAAGCTGATCTCCAATGCTC	0.413																																																	0													86.0	85.0	85.0					11																	65273470		874	1988	2862			378938			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65273470C>G				RNA	SNP	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-		0.413	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	C	NR_002819		65273470	+1	no_errors	ENST00000534336	ensembl	human	known	70_37	rna	SNP	0.638	G
MALT1	10892	genome.wustl.edu	37	18	56401561	56401561	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr18:56401561C>G	ENST00000348428.3	+	12	1681	c.1423C>G	c.(1423-1425)Cca>Gca	p.P475A	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.P464A	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	475	Caspase-like.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TGATACCATTCCAATCTTGGA	0.358			T	BIRC3	MALT																																			Dom	yes		18	18q21	10892	mucosa associated lymphoid tissue lymphoma translocation gene 1		L	0													120.0	103.0	109.0					18																	56401561		2203	4300	6503	SO:0001583	missense	10892				CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6819	protein-coding gene	gene with protein product	"""paracaspase"""	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.1423C>G	18.37:g.56401561C>G	ENSP00000319279:p.Pro475Ala		Q9NTB7|Q9ULX4	Missense_Mutation	SNP	pfam_Pept_C14_cat,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_DEATH-like,smart_Ig_sub,smart_Ig_sub2,pfscan_Pept_C14_ICE_p20,pfscan_Ig-like	p.P475A	ENST00000348428.3	37	c.1423	CCDS11967.1	18	.	.	.	.	.	.	.	.	.	.	C	6.417	0.445150	0.12164	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	T;T	0.40476	1.03;1.03	5.88	5.88	0.94601	Peptidase C14, caspase catalytic (1);	0.158908	0.56097	D	0.000021	T	0.24122	0.0584	N	0.21194	0.64	0.58432	D	0.999999	P;P	0.39443	0.624;0.674	B;B	0.28465	0.054;0.09	T	0.06844	-1.0804	10	0.22109	T	0.4	.	12.3534	0.55161	0.0:0.9222:0.0:0.0778	.	464;475	Q9UDY8-2;Q9UDY8	.;MALT1_HUMAN	A	475;464	ENSP00000319279:P475A;ENSP00000304161:P464A	ENSP00000304161:P464A	P	+	1	0	MALT1	54552541	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	3.802000	0.55553	2.779000	0.95612	0.650000	0.86243	CCA	MALT1	-	pfam_Pept_C14_cat		0.358	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MALT1	HGNC	protein_coding	OTTHUMT00000256132.2	C			56401561	+1	no_errors	ENST00000348428	ensembl	human	known	70_37	missense	SNP	0.998	G
MAP1A	4130	genome.wustl.edu	37	15	43813622	43813622	+	5'UTR	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:43813622C>T	ENST00000300231.5	+	0	401				MAP1A_ENST00000382031.1_Missense_Mutation_p.S222F|MAP1A_ENST00000399453.1_5'UTR			P78559	MAP1A_HUMAN	microtubule-associated protein 1A						microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TTATCCAGTTCCCAAGAGACC	0.562																																																	0													53.0	56.0	55.0					15																	43813622		2015	4172	6187	SO:0001623	5_prime_UTR_variant	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.-50C>T	15.37:g.43813622C>T			O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.S222F	ENST00000300231.5	37	c.665	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	C	8.207	0.799472	0.16397	.	.	ENSG00000166963	ENST00000382031	T	0.03065	4.06	5.22	5.22	0.72569	.	0.000000	0.31897	N	0.006896	T	0.03871	0.0109	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54728	-0.8250	7	0.15952	T	0.53	-13.8951	6.2482	0.20832	0.0:0.7867:0.0:0.2133	.	.	.	.	F	222	ENSP00000371462:S222F	ENSP00000371462:S222F	S	+	2	0	MAP1A	41600914	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.473000	0.60196	2.720000	0.93068	0.561000	0.74099	TCC	MAP1A	-	NULL		0.562	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	C	NM_002373		43813622	+1	no_errors	ENST00000382031	ensembl	human	novel	70_37	missense	SNP	1.000	T
MAP2	4133	genome.wustl.edu	37	2	210557640	210557640	+	Missense_Mutation	SNP	G	G	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:210557640G>T	ENST00000360351.4	+	7	1252	c.746G>T	c.(745-747)gGc>gTc	p.G249V	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.G245V	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	249					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GTAGTACCTGGCATTGACCTC	0.473																																					Pancreas(27;423 979 28787 29963)												0													74.0	79.0	77.0					2																	210557640		2203	4300	6503	SO:0001583	missense	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.746G>T	2.37:g.210557640G>T	ENSP00000353508:p.Gly249Val		Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.G249V	ENST00000360351.4	37	c.746	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457089	0.63401	.	.	ENSG00000078018	ENST00000360351;ENST00000445941;ENST00000447185	T;T;T	0.23348	3.28;1.91;3.28	5.98	0.535	0.17133	.	0.734906	0.13074	N	0.415855	T	0.14270	0.0345	N	0.22421	0.69	0.31471	N	0.66844	B;B	0.31548	0.328;0.22	B;B	0.29785	0.107;0.05	T	0.17930	-1.0353	10	0.49607	T	0.09	-1.3533	5.2319	0.15426	0.3921:0.2237:0.3841:0.0	.	245;249	P11137-3;P11137	.;MAP2_HUMAN	V	249;331;245	ENSP00000353508:G249V;ENSP00000409969:G331V;ENSP00000392164:G245V	ENSP00000353508:G249V	G	+	2	0	MAP2	210265885	0.979000	0.34478	0.999000	0.59377	0.987000	0.75469	0.485000	0.22324	0.426000	0.26116	0.655000	0.94253	GGC	MAP2	-	NULL		0.473	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	G	NM_001039538		210557640	+1	no_errors	ENST00000360351	ensembl	human	known	70_37	missense	SNP	0.571	T
MAP7D3	79649	genome.wustl.edu	37	X	135323400	135323400	+	Missense_Mutation	SNP	G	G	A	rs201460312		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:135323400G>A	ENST00000316077.9	-	5	674	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	MAP7D3_ENST00000370661.1_Missense_Mutation_p.R152W|MAP7D3_ENST00000370663.5_Missense_Mutation_p.R134W	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	152					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					AGTCTCCTCCGTTCCAAAGTA	0.338																																																	0													55.0	49.0	51.0					X																	135323400		1829	4093	5922	SO:0001583	missense	79649			AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.454C>T	X.37:g.135323400G>A	ENSP00000318086:p.Arg152Trp		A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	pfam_E-MAP-115	p.R134W	ENST00000316077.9	37	c.400	CCDS44004.1	X	.	.	.	.	.	.	.	.	.	.	G	14.56	2.570454	0.45798	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	5.15	-0.0518	0.13825	.	.	.	.	.	T	0.31979	0.0814	M	0.68952	2.095	0.09310	N	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.12811	-1.0533	9	0.87932	D	0	-14.3918	10.2923	0.43603	0.0:0.1183:0.3927:0.4889	.	134;152;152;152	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	W	152;152;134;152	ENSP00000359695:R152W;ENSP00000318086:R152W;ENSP00000359697:R134W;ENSP00000359694:R152W	ENSP00000318086:R152W	R	-	1	2	MAP7D3	135151066	0.300000	0.24435	0.000000	0.03702	0.009000	0.06853	1.998000	0.40796	-0.531000	0.06340	-1.517000	0.00937	CGG	MAP7D3	-	NULL		0.338	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	MAP7D3	HGNC	protein_coding	OTTHUMT00000058487.2	G			135323400	-1	no_errors	ENST00000370663	ensembl	human	known	70_37	missense	SNP	0.157	A
MAT2A	4144	genome.wustl.edu	37	2	85766425	85766425	+	Silent	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:85766425C>T	ENST00000306434.3	+	1	138	c.15C>T	c.(13-15)ctC>ctT	p.L5L	MAT2A_ENST00000409017.1_5'Flank	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	5					cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|methionine adenosyltransferase complex (GO:0048269)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	ACGGACAGCTCAACGGCTTCC	0.632																																																	0													67.0	57.0	61.0					2																	85766425		2203	4300	6503	SO:0001819	synonymous_variant	4144				CCDS1977.1	2p11.2	2008-06-03			ENSG00000168906	ENSG00000168906			6904	protein-coding gene	gene with protein product		601468				1426236, 9703951	Standard	NM_005911		Approved	SAMS2, MATA2, MATII	uc002spr.3	P31153	OTTHUMG00000130174	ENST00000306434.3:c.15C>T	2.37:g.85766425C>T			A8K511|B4DN45|D6W5L1|Q53SP5	Silent	SNP	pfam_S-AdoMet_synt_C,pfam_S-AdoMet_synt_central,pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase	p.L5	ENST00000306434.3	37	c.15	CCDS1977.1	2																																																																																			MAT2A	-	NULL		0.632	MAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAT2A	HGNC	protein_coding	OTTHUMT00000252491.2	C	NM_005911		85766425	+1	no_errors	ENST00000306434	ensembl	human	known	70_37	silent	SNP	1.000	T
MCHR1	2847	genome.wustl.edu	37	22	41075624	41075624	+	Missense_Mutation	SNP	C	C	T	rs200469291		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr22:41075624C>T	ENST00000249016.4	+	1	871	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W	MCHR1_ENST00000498400.1_Intron|MCHR1_ENST00000381433.2_Missense_Mutation_p.R59W	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	59					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						GAGCTCAGCTCGGTTGTGGGA	0.682																																																	0													37.0	43.0	41.0					22																	41075624		2203	4299	6502	SO:0001583	missense	2847				CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"""GPCR / Class A : MCH receptors"""	4479	protein-coding gene	gene with protein product		601751	"""G protein-coupled receptor 24"""	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.175C>T	22.37:g.41075624C>T	ENSP00000249016:p.Arg59Trp		B2RBX6|Q5R3J1|Q96S47|Q9BV08	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH1_rcpt,prints_MCH_rcpt,prints_GPCR_Rhodpsn	p.R59W	ENST00000249016.4	37	c.175	CCDS14004.1	22	.	.	.	.	.	.	.	.	.	.	C	0.590	-0.833230	0.02713	.	.	ENSG00000128285	ENST00000249016;ENST00000381433	T;T	0.64803	-0.12;0.36	3.64	-1.95	0.07548	.	4.485790	0.00931	N	0.002715	T	0.29783	0.0744	N	0.08118	0	0.09310	N	1	P	0.42375	0.778	B	0.16722	0.016	T	0.35574	-0.9783	10	0.51188	T	0.08	.	1.1187	0.01720	0.1754:0.4336:0.1715:0.2195	.	59	Q99705	MCHR1_HUMAN	W	59	ENSP00000249016:R59W;ENSP00000370841:R59W	ENSP00000249016:R59W	R	+	1	2	MCHR1	39405570	0.000000	0.05858	0.011000	0.14972	0.004000	0.04260	-0.206000	0.09398	-0.230000	0.09840	-1.539000	0.00912	CGG	MCHR1	-	NULL		0.682	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCHR1	HGNC	protein_coding	OTTHUMT00000317142.1	C	NM_005297		41075624	+1	no_errors	ENST00000249016	ensembl	human	known	70_37	missense	SNP	0.008	T
MED18	54797	genome.wustl.edu	37	1	28661017	28661017	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:28661017G>A	ENST00000373842.4	+	3	372	c.163G>A	c.(163-165)Gag>Aag	p.E55K	MED18_ENST00000479574.1_3'UTR|MED18_ENST00000398997.2_Missense_Mutation_p.E55K	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	55						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTGACCATGAGATGGTATT	0.532																																																	0													210.0	205.0	207.0					1																	28661017		2203	4300	6503	SO:0001583	missense	54797			BC002694	CCDS322.1	1p35.3	2007-07-30	2007-07-30		ENSG00000130772	ENSG00000130772			25944	protein-coding gene	gene with protein product		612384	"""mediator of RNA polymerase II transcription, subunit 18 homolog (S. cerevisiae)"""			15175163	Standard	NM_001127350		Approved	FLJ20045, p28b	uc009vtg.3	Q9BUE0	OTTHUMG00000003537	ENST00000373842.4:c.163G>A	1.37:g.28661017G>A	ENSP00000362948:p.Glu55Lys		D3DPM1|Q9NXU9	Missense_Mutation	SNP	pfam_Mediator_Med18_met/fun	p.E55K	ENST00000373842.4	37	c.163	CCDS322.1	1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939963	0.92526	.	.	ENSG00000130772	ENST00000373842;ENST00000398997	.	.	.	5.75	4.84	0.62591	Mediator complex, subunit Med18, metazoa/fungi (1);	0.097554	0.64402	D	0.000002	T	0.71660	0.3366	M	0.77486	2.375	0.32214	N	0.576115	D	0.76494	0.999	D	0.83275	0.996	T	0.79584	-0.1743	9	0.72032	D	0.01	-22.6512	12.528	0.56098	0.0807:0.0:0.9193:0.0	.	55	Q9BUE0	MED18_HUMAN	K	55	.	ENSP00000362948:E55K	E	+	1	0	MED18	28533604	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	9.242000	0.95408	1.452000	0.47756	-0.136000	0.14681	GAG	MED18	-	pfam_Mediator_Med18_met/fun		0.532	MED18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED18	HGNC	protein_coding	OTTHUMT00000009856.1	G	NM_017638		28661017	+1	no_errors	ENST00000373842	ensembl	human	known	70_37	missense	SNP	1.000	A
MFAP4	4239	genome.wustl.edu	37	17	19290087	19290087	+	Missense_Mutation	SNP	C	C	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:19290087C>A	ENST00000299610.4	-	2	155	c.71G>T	c.(70-72)gGg>gTg	p.G24V	MFAP4_ENST00000395592.2_Missense_Mutation_p.G48V|MFAP4_ENST00000574313.2_5'Flank|MFAP4_ENST00000497081.2_Missense_Mutation_p.G49V	NM_002404.2	NP_002395.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	24					cell adhesion (GO:0007155)|cellular response to UV-B (GO:0071493)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|regulation of collagen metabolic process (GO:0010712)|UV protection (GO:0009650)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)				large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					TCCTCGGATCCCGGAGACCTG	0.662																																																	0													13.0	14.0	13.0					17																	19290087		2177	4283	6460	SO:0001583	missense	4239			L38486	CCDS11208.1, CCDS56023.1	17p11.2	2013-02-06			ENSG00000166482	ENSG00000166482		"""Fibrinogen C domain containing"""	7035	protein-coding gene	gene with protein product	"""microfibril-associated glycoprotein 4"""	600596				7633408	Standard	NM_001198695		Approved		uc002gvs.3	P55083	OTTHUMG00000059585	ENST00000299610.4:c.71G>T	17.37:g.19290087C>A	ENSP00000299610:p.Gly24Val		A8KAJ1|A8MVM2|B4E317|Q6P680	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.G48V	ENST00000299610.4	37	c.143	CCDS11208.1	17	.	.	.	.	.	.	.	.	.	.	C	12.81	2.048590	0.36181	.	.	ENSG00000166482	ENST00000395592;ENST00000299610	T;T	0.56275	0.49;0.47	4.84	2.77	0.32553	.	0.408163	0.21019	N	0.081548	T	0.34513	0.0900	N	0.19112	0.55	0.47737	D	0.999506	B;B	0.26081	0.003;0.141	B;B	0.24394	0.001;0.053	T	0.12041	-1.0563	10	0.52906	T	0.07	.	8.276	0.31873	0.1782:0.65:0.1718:0.0	.	24;48	P55083;A8MVM2	MFAP4_HUMAN;.	V	48;24	ENSP00000378957:G48V;ENSP00000299610:G24V	ENSP00000299610:G24V	G	-	2	0	MFAP4	19230680	0.236000	0.23804	0.887000	0.34795	0.766000	0.43426	0.165000	0.16564	0.540000	0.28808	-0.325000	0.08501	GGG	MFAP4	-	NULL		0.662	MFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP4	HGNC	protein_coding	OTTHUMT00000132493.2	C	NM_002404		19290087	-1	no_errors	ENST00000395592	ensembl	human	known	70_37	missense	SNP	0.971	A
MFSD8	256471	genome.wustl.edu	37	4	128865102	128865102	+	Missense_Mutation	SNP	A	A	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr4:128865102A>G	ENST00000296468.3	-	5	371	c.244T>C	c.(244-246)Tca>Cca	p.S82P	MFSD8_ENST00000513559.1_Missense_Mutation_p.S37P|MFSD8_ENST00000541133.1_Missense_Mutation_p.S37P|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	82					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						AGACTATATGAAGCAATAACC	0.363																																																	0													159.0	165.0	163.0					4																	128865102		2203	4300	6503	SO:0001583	missense	256471			AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.244T>C	4.37:g.128865102A>G	ENSP00000296468:p.Ser82Pro		B2RDM1|B7Z205|Q8N2P3	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S82P	ENST00000296468.3	37	c.244	CCDS3736.1	4	.	.	.	.	.	.	.	.	.	.	A	19.55	3.848360	0.71603	.	.	ENSG00000164073	ENST00000296468;ENST00000513559;ENST00000541133	T;T;T	0.58506	0.33;0.33;0.33	5.36	4.1	0.47936	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.061236	0.64402	D	0.000003	T	0.67859	0.2938	M	0.68593	2.085	0.42650	D	0.993445	P;D;D	0.53462	0.952;0.96;0.96	P;P;P	0.57846	0.828;0.765;0.664	T	0.70710	-0.4797	10	0.51188	T	0.08	-12.2225	12.0434	0.53466	0.856:0.144:0.0:0.0	.	37;82;82	B7Z2B2;B7Z280;Q8NHS3	.;.;MFSD8_HUMAN	P	82;37;37	ENSP00000296468:S82P;ENSP00000425000:S37P;ENSP00000439616:S37P	ENSP00000296468:S82P	S	-	1	0	MFSD8	129084552	1.000000	0.71417	0.998000	0.56505	0.869000	0.49853	3.541000	0.53618	2.038000	0.60285	0.451000	0.29950	TCA	MFSD8	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.363	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD8	HGNC	protein_coding	OTTHUMT00000257097.1	A	NM_152778		128865102	-1	no_errors	ENST00000296468	ensembl	human	known	70_37	missense	SNP	1.000	G
MGA	23269	genome.wustl.edu	37	15	42058330	42058330	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:42058330C>G	ENST00000570161.1	+	23	8050	c.8050C>G	c.(8050-8052)Ctg>Gtg	p.L2684V	MGA_ENST00000219905.7_Missense_Mutation_p.L2684V|MGA_ENST00000545763.1_Missense_Mutation_p.L2475V|MGA_ENST00000566586.1_Missense_Mutation_p.L2475V|MGA_ENST00000389936.4_Missense_Mutation_p.L2645V			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATCTGACCATCTGAAAGACAC	0.453																																																	0													72.0	69.0	70.0					15																	42058330		1909	4125	6034	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.8050C>G	15.37:g.42058330C>G	ENSP00000457035:p.Leu2684Val		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.L2684V	ENST00000570161.1	37	c.8050	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068347	0.36470	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.85702	-1.99;-1.99;-2.02	5.38	4.4	0.53042	.	1.137290	0.06940	N	0.812614	T	0.73040	0.3536	N	0.19112	0.55	0.21841	N	0.999518	B;B	0.31548	0.328;0.22	B;B	0.24394	0.053;0.024	T	0.62905	-0.6755	10	0.87932	D	0	.	4.4493	0.11612	0.2391:0.6314:0.0:0.1294	.	2475;2684	F5H7K2;E7ENI0	.;.	V	2684;2645;2475	ENSP00000219905:L2684V;ENSP00000374586:L2645V;ENSP00000442467:L2475V	ENSP00000219905:L2684V	L	+	1	2	MGA	39845622	0.861000	0.29849	1.000000	0.80357	0.866000	0.49608	1.390000	0.34464	2.793000	0.96121	0.655000	0.94253	CTG	MGA	-	NULL		0.453	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	C	NM_001164273.1		42058330	+1	no_errors	ENST00000219905	ensembl	human	known	70_37	missense	SNP	0.944	G
PTOV1	53635	genome.wustl.edu	37	19	50357852	50357852	+	Intron	SNP	C	C	T	rs370929811		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:50357852C>T	ENST00000601675.1	+	2	413				AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000599732.1_Intron|AC018766.6_ENST00000601211.1_RNA|PTOV1-AS1_ENST00000596521.1_RNA|MIR4749_ENST00000578197.1_RNA|PTOV1_ENST00000598325.1_Intron|PTOV1_ENST00000221557.9_Intron|PTOV1_ENST00000601638.1_Intron|PTOV1_ENST00000391842.1_Intron|PTOV1_ENST00000600603.1_Intron			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CTTGTCCCTGCGGGGACAGGC	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		13258	0.001		0.0	False		,,,				2504	0.0																0								C		1,2651		0,1,1325	20.0	24.0	22.0			-7.4	0.0	19		22	0,4616		0,0,2308	no	intron	PTOV1	NM_017432.3		0,1,3633	TT,TC,CC		0.0,0.0377,0.0138			50357852	1,7267	1326	2308	3634	SO:0001627	intron_variant	100616313			AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.309+52C>T	19.37:g.50357852C>T			Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	RNA	SNP	-	NULL	ENST00000601675.1	37	NULL	CCDS12782.1	19																																																																																			MIR4749	-	-		0.647	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	MIR4749	HGNC	protein_coding	OTTHUMT00000465347.1	C	NM_017432		50357852	+1	no_errors	ENST00000578197	ensembl	human	known	70_37	rna	SNP	0.000	T
STRBP	55342	genome.wustl.edu	37	9	125873767	125873767	+	Intron	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr9:125873767C>G	ENST00000530364.1	-	2	31				MIR600HG_ENST00000385007.1_RNA			Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein						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						TTCTGACCATCTTGGTTCCCT	0.478																																																	0													20.0	26.0	24.0					9																	125873767		692	1591	2283	SO:0001627	intron_variant	81571			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	ENST00000530364.1:c.255-1735G>C	9.37:g.125873767C>G			Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	RNA	SNP	-	NULL	ENST00000530364.1	37	NULL		9																																																																																			MIR600HG	-	-		0.478	STRBP-009	PUTATIVE	basic	processed_transcript	MIR600HG	HGNC	protein_coding	OTTHUMT00000392598.1	C			125873767	-1	no_errors	ENST00000449175	ensembl	human	known	70_37	rna	SNP	0.071	G
STRBP	55342	genome.wustl.edu	37	9	125874409	125874409	+	Intron	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr9:125874409C>T	ENST00000530364.1	-	2	31				MIR600HG_ENST00000385007.1_RNA			Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein						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						GCCCTCGCCTCCTGACTCAGT	0.682																																																	0																																										SO:0001627	intron_variant	81571			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	ENST00000530364.1:c.255-2377G>A	9.37:g.125874409C>T			Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	RNA	SNP	-	NULL	ENST00000530364.1	37	NULL		9																																																																																			MIR600HG	-	-		0.682	STRBP-009	PUTATIVE	basic	processed_transcript	MIR600HG	HGNC	protein_coding	OTTHUMT00000392598.1	C			125874409	-1	no_errors	ENST00000449175	ensembl	human	known	70_37	rna	SNP	0.000	T
MLEC	9761	genome.wustl.edu	37	12	121125268	121125268	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr12:121125268G>C	ENST00000228506.3	+	1	597	c.169G>C	c.(169-171)Gag>Cag	p.E57Q	MLEC_ENST00000412616.2_Missense_Mutation_p.E57Q	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	57					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						CGCGGGTGGAGAGGCGCATGT	0.751																																																	0													21.0	26.0	24.0					12																	121125268		2203	4298	6501	SO:0001583	missense	9761			BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.169G>C	12.37:g.121125268G>C	ENSP00000228506:p.Glu57Gln			Missense_Mutation	SNP	pfam_Malectin	p.E57Q	ENST00000228506.3	37	c.169	CCDS9206.1	12	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562865	0.86335	.	.	ENSG00000110917	ENST00000228506;ENST00000412616	.	.	.	5.02	5.02	0.67125	Malectin (1);	0.102221	0.64402	D	0.000003	T	0.59142	0.2172	L	0.50333	1.59	0.58432	D	0.999998	B	0.28512	0.214	B	0.29077	0.098	T	0.55749	-0.8092	9	0.32370	T	0.25	.	18.4863	0.90830	0.0:0.0:1.0:0.0	.	57	Q14165	MLEC_HUMAN	Q	57	.	ENSP00000228506:E57Q	E	+	1	0	MLEC	119609651	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.565000	0.90730	2.780000	0.95670	0.561000	0.74099	GAG	MLEC	-	pfam_Malectin		0.751	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLEC	HGNC	protein_coding	OTTHUMT00000402781.2	G	NM_014730		121125268	+1	no_errors	ENST00000228506	ensembl	human	known	70_37	missense	SNP	1.000	C
MNDA	4332	genome.wustl.edu	37	1	158815707	158815707	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:158815707G>A	ENST00000368141.4	+	5	1162	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	301	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					CAGAATTATCGAAATAGCAAA	0.338																																																	0													65.0	68.0	67.0					1																	158815707		2203	4300	6503	SO:0001583	missense	4332			BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.901G>A	1.37:g.158815707G>A	ENSP00000357123:p.Glu301Lys			Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x	p.E301K	ENST00000368141.4	37	c.901	CCDS1177.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.062|0.062	-1.221054|-1.221054	0.01530|0.01530	.|.	.|.	ENSG00000163563|ENSG00000163563	ENST00000368141|ENST00000438394	T|.	0.12984|.	2.63|.	4.28|4.28	0.102|0.102	0.14522|0.14522	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);|.	1.437920|.	0.04762|.	N|.	0.426445|.	T|T	0.01661|0.01661	0.0053|0.0053	N|N	0.00446|0.00446	-1.495|-1.495	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.46527|0.46527	-0.9185|-0.9185	10|5	0.06625|.	T|.	0.88|.	-1.0938|-1.0938	4.8617|4.8617	0.13587|0.13587	0.5252:0.371:0.1037:0.0|0.5252:0.371:0.1037:0.0	.|.	301|.	P41218|.	MNDA_HUMAN|.	K|Q	301|6	ENSP00000357123:E301K|.	ENSP00000357123:E301K|.	E|R	+|+	1|2	0|0	MNDA|MNDA	157082331|157082331	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.566000|-0.566000	0.05922|0.05922	-0.044000|-0.044000	0.13491|0.13491	-0.290000|-0.290000	0.09829|0.09829	GAA|CGA	MNDA	-	pfam_HIN200/IF120x,pfscan_HIN200/IF120x		0.338	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNDA	HGNC	protein_coding	OTTHUMT00000059069.1	G	NM_002432		158815707	+1	no_errors	ENST00000368141	ensembl	human	known	70_37	missense	SNP	0.000	A
MOGS	7841	genome.wustl.edu	37	2	74689731	74689731	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:74689731G>A	ENST00000233616.4	-	4	1347	c.1185C>T	c.(1183-1185)ctC>ctT	p.L395L	MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000462443.1_5'Flank|MOGS_ENST00000452063.2_Silent_p.L289L	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	395					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GGAGGCCGCTGAGGGCAGCCT	0.582																																																	0													111.0	121.0	118.0					2																	74689731		1935	4131	6066	SO:0001819	synonymous_variant	7841			X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.1185C>T	2.37:g.74689731G>A			A8K938|F5H6D0|Q17RN9|Q8TCT5	Silent	SNP	pfam_Glycoside_hydrolase_63,superfamily_6-hairpin_glycosidase-like	p.L395	ENST00000233616.4	37	c.1185	CCDS42700.1	2																																																																																			MOGS	-	pfam_Glycoside_hydrolase_63		0.582	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOGS	HGNC	protein_coding	OTTHUMT00000328382.1	G	NM_006302		74689731	-1	no_errors	ENST00000233616	ensembl	human	known	70_37	silent	SNP	0.998	A
MORF4L1	10933	genome.wustl.edu	37	15	79165368	79165368	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:79165368G>A	ENST00000331268.5	+	1	213	c.9G>A	c.(7-9)ccG>ccA	p.P3P	MORF4L1_ENST00000561171.1_3'UTR|MORF4L1_ENST00000558502.1_5'Flank|MORF4L1_ENST00000379535.4_Intron|MORF4L1_ENST00000426013.2_Silent_p.P3P|MORF4L1_ENST00000558746.1_Silent_p.P3P|MORF4L1_ENST00000559345.1_5'UTR	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	3					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						AAATGGCGCCGAAGCAGGACC	0.612																																																	0													39.0	33.0	35.0					15																	79165368		2059	4070	6129	SO:0001819	synonymous_variant	10933			AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"""MORF-related gene on chromosome 15"", ""Esa1p-associated factor 3 homolog (S. cerevisiae)"""	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.9G>A	15.37:g.79165368G>A			B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Silent	SNP	pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,pirsf_EAF3/MRG15	p.P3	ENST00000331268.5	37	c.9	CCDS10307.1	15																																																																																			MORF4L1	-	pirsf_EAF3/MRG15		0.612	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	MORF4L1	HGNC	protein_coding	OTTHUMT00000290131.4	G	NM_006791		79165368	+1	no_errors	ENST00000331268	ensembl	human	known	70_37	silent	SNP	0.999	A
MOSPD1	56180	genome.wustl.edu	37	X	134023170	134023170	+	3'UTR	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:134023170G>A	ENST00000370783.3	-	0	849				MOSPD1_ENST00000370777.1_3'UTR|MOSPD1_ENST00000491609.1_5'UTR|MOSPD1_ENST00000370779.4_3'UTR	NM_019556.1	NP_062456.1	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	9	Acute lymphoblastic leukemia(192;0.000127)					ATTTACTTCAGAAGTCAATTG	0.333																																																	0													121.0	102.0	109.0					X																	134023170		2203	4300	6503	SO:0001624	3_prime_UTR_variant	56180			Z83826	CCDS14645.1	Xq26.3	2008-02-05			ENSG00000101928	ENSG00000101928			25235	protein-coding gene	gene with protein product		300674				15533722	Standard	XM_005262446		Approved	dJ473B4	uc004eyb.3	Q9UJG1	OTTHUMG00000035315	ENST00000370783.3:c.*21C>T	X.37:g.134023170G>A			B2RE62|D3DTG5|Q5H9C5|Q5H9C7	RNA	SNP	-	NULL	ENST00000370783.3	37	NULL	CCDS14645.1	X																																																																																			MOSPD1	-	-		0.333	MOSPD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MOSPD1	HGNC	protein_coding	OTTHUMT00000085439.1	G	NM_019556		134023170	-1	no_errors	ENST00000480721	ensembl	human	known	70_37	rna	SNP	0.953	A
MOV10	4343	genome.wustl.edu	37	1	113242368	113242368	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:113242368G>A	ENST00000413052.2	+	18	3035	c.2645G>A	c.(2644-2646)cGa>cAa	p.R882Q	MOV10_ENST00000468624.1_3'UTR|RP11-426L16.10_ENST00000471038.2_5'Flank|MOV10_ENST00000369644.1_Missense_Mutation_p.R826Q|MOV10_ENST00000369645.1_Missense_Mutation_p.R882Q|MOV10_ENST00000357443.2_Missense_Mutation_p.R882Q	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	882					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TCCACCGTGCGAAGCAGCCAG	0.552																																																	0													152.0	158.0	156.0					1																	113242368		2203	4300	6503	SO:0001583	missense	4343			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2645G>A	1.37:g.113242368G>A	ENSP00000399797:p.Arg882Gln		Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	NULL	p.R882Q	ENST00000413052.2	37	c.2645	CCDS853.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.797959	0.96952	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.96554	-4.05;-4.05;-4.05;-4.05	5.1	5.1	0.69264	.	0.057790	0.64402	D	0.000001	D	0.98861	0.9615	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99761	1.1021	10	0.87932	D	0	-9.9439	18.109	0.89529	0.0:0.0:1.0:0.0	.	882	Q9HCE1	MOV10_HUMAN	Q	882;882;826;882;820	ENSP00000399797:R882Q;ENSP00000358659:R882Q;ENSP00000358658:R826Q;ENSP00000350028:R882Q	ENSP00000350028:R882Q	R	+	2	0	MOV10	113043891	1.000000	0.71417	0.980000	0.43619	0.925000	0.55904	9.866000	0.99616	2.370000	0.80446	0.467000	0.42956	CGA	MOV10	-	NULL		0.552	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOV10	HGNC	protein_coding	OTTHUMT00000032906.1	G	NM_020963		113242368	+1	no_errors	ENST00000357443	ensembl	human	known	70_37	missense	SNP	1.000	A
MOV10L1	54456	genome.wustl.edu	37	22	50598170	50598170	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr22:50598170G>A	ENST00000262794.5	+	24	3363	c.3280G>A	c.(3280-3282)Gag>Aag	p.E1094K	MOV10L1_ENST00000395858.3_Missense_Mutation_p.E1094K|MOV10L1_ENST00000545383.1_Missense_Mutation_p.E1094K|MOV10L1_ENST00000395852.1_Missense_Mutation_p.E221K|MOV10L1_ENST00000540615.1_Missense_Mutation_p.E1074K	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	1094					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGGATCAGTAGAGGAGTTTCA	0.438																																																	0													169.0	158.0	162.0					22																	50598170		2203	4300	6503	SO:0001583	missense	54456			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.3280G>A	22.37:g.50598170G>A	ENSP00000262794:p.Glu1094Lys		A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	superfamily_NA-bd_OB-fold-like	p.E1094K	ENST00000262794.5	37	c.3280	CCDS14084.1	22	.	.	.	.	.	.	.	.	.	.	.	25.3	4.628390	0.87560	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615;ENST00000395852	D;D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11;-3.11	5.36	5.36	0.76844	.	0.141423	0.64402	D	0.000005	D	0.96852	0.8972	M	0.90145	3.09	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.997;1.0;0.999	D	0.97569	1.0103	10	0.87932	D	0	-35.311	17.8849	0.88851	0.0:0.0:1.0:0.0	.	1074;221;1094;1094	F5H403;Q9BXT6-2;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	K	1094;1094;1094;1074;221	ENSP00000438978:E1094K;ENSP00000262794:E1094K;ENSP00000379199:E1094K;ENSP00000438542:E1074K;ENSP00000379193:E221K	ENSP00000262794:E1094K	E	+	1	0	MOV10L1	48940297	1.000000	0.71417	0.959000	0.39883	0.564000	0.35744	8.837000	0.92110	2.499000	0.84300	0.544000	0.68410	GAG	MOV10L1	-	NULL		0.438	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MOV10L1	HGNC	protein_coding	OTTHUMT00000075009.2	G	NM_018995		50598170	+1	no_errors	ENST00000262794	ensembl	human	known	70_37	missense	SNP	1.000	A
MSH4	4438	genome.wustl.edu	37	1	76280787	76280787	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:76280787G>A	ENST00000263187.3	+	5	885	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	261					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						ATGCATAGCAGAATTCAGCAC	0.299								Mismatch excision repair (MMR)																																									0													87.0	90.0	89.0					1																	76280787		2203	4298	6501	SO:0001583	missense	4438			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.781G>A	1.37:g.76280787G>A	ENSP00000263187:p.Glu261Lys		Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.E261K	ENST00000263187.3	37	c.781	CCDS670.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.136032	0.94517	.	.	ENSG00000057468	ENST00000263187	T	0.58652	0.32	5.23	5.23	0.72850	DNA mismatch repair protein MutS, connector (2);	0.000000	0.85682	D	0.000000	T	0.70876	0.3274	M	0.71036	2.16	0.58432	D	0.999997	D	0.67145	0.996	D	0.68353	0.957	T	0.71909	-0.4450	10	0.54805	T	0.06	-19.3212	19.1847	0.93639	0.0:0.0:1.0:0.0	.	261	O15457	MSH4_HUMAN	K	261	ENSP00000263187:E261K	ENSP00000263187:E261K	E	+	1	0	MSH4	76053375	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.836000	0.92105	2.631000	0.89168	0.655000	0.94253	GAA	MSH4	-	pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_connt		0.299	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH4	HGNC	protein_coding	OTTHUMT00000026983.1	G	NM_002440		76280787	+1	no_errors	ENST00000263187	ensembl	human	known	70_37	missense	SNP	1.000	A
MST1R	4486	genome.wustl.edu	37	3	49924830	49924830	+	Missense_Mutation	SNP	C	C	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:49924830C>A	ENST00000296474.3	-	20	4140	c.4113G>T	c.(4111-4113)atG>atT	p.M1371I	MST1R_ENST00000344206.4_Missense_Mutation_p.M1322I	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1371					cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GACGCACATTCATCTCATGCG	0.587																																																	0													133.0	119.0	124.0					3																	49924830		2203	4300	6503	SO:0001583	missense	4486			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.4113G>T	3.37:g.49924830C>A	ENSP00000296474:p.Met1371Ile		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.M1371I	ENST00000296474.3	37	c.4113	CCDS2807.1	3	.	.	.	.	.	.	.	.	.	.	C	10.96	1.500005	0.26861	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.72725	-0.68;-0.68	5.08	-4.94	0.03057	.	1.811800	0.02594	N	0.100298	T	0.52805	0.1757	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.37291	-0.9712	10	0.20519	T	0.43	0.048	9.8675	0.41152	0.0:0.5522:0.3385:0.1093	.	1371	Q04912	RON_HUMAN	I	1371;1322	ENSP00000296474:M1371I;ENSP00000341325:M1322I	ENSP00000296474:M1371I	M	-	3	0	MST1R	49899834	.	.	0.000000	0.03702	0.053000	0.15095	.	.	-0.955000	0.03636	0.655000	0.94253	ATG	MST1R	-	pirsf_Tyr_kinase_HGF/MSP_rcpt		0.587	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	HGNC	protein_coding	OTTHUMT00000345403.1	C			49924830	-1	no_errors	ENST00000296474	ensembl	human	known	70_37	missense	SNP	0.000	A
MST1R	4486	genome.wustl.edu	37	3	49924919	49924919	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:49924919C>G	ENST00000296474.3	-	20	4051	c.4024G>C	c.(4024-4026)Gag>Cag	p.E1342Q	MST1R_ENST00000344206.4_Missense_Mutation_p.E1293Q	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1342	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		ACTATCTGCTCCACCTCCCCC	0.572																																																	0													94.0	84.0	87.0					3																	49924919		2203	4300	6503	SO:0001583	missense	4486			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.4024G>C	3.37:g.49924919C>G	ENSP00000296474:p.Glu1342Gln		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E1342Q	ENST00000296474.3	37	c.4024	CCDS2807.1	3	.	.	.	.	.	.	.	.	.	.	C	9.670	1.146567	0.21288	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.35421	1.31;1.31	5.91	5.03	0.67393	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.288156	0.39475	N	0.001353	T	0.20333	0.0489	L	0.31804	0.96	0.26944	N	0.966188	P	0.48998	0.918	B	0.33620	0.167	T	0.12243	-1.0555	10	0.27785	T	0.31	-16.5245	9.3813	0.38316	0.1425:0.7833:0.0:0.0742	.	1342	Q04912	RON_HUMAN	Q	1342;1293	ENSP00000296474:E1342Q;ENSP00000341325:E1293Q	ENSP00000296474:E1342Q	E	-	1	0	MST1R	49899923	0.151000	0.22747	0.174000	0.22961	0.392000	0.30506	1.469000	0.35343	1.485000	0.48380	0.655000	0.94253	GAG	MST1R	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Prot_kinase_cat_dom		0.572	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	HGNC	protein_coding	OTTHUMT00000345403.1	C			49924919	-1	no_errors	ENST00000296474	ensembl	human	known	70_37	missense	SNP	0.587	G
MST1R	4486	genome.wustl.edu	37	3	49924925	49924925	+	Nonsense_Mutation	SNP	C	C	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:49924925C>A	ENST00000296474.3	-	20	4045	c.4018G>T	c.(4018-4020)Gag>Tag	p.E1340*	MST1R_ENST00000344206.4_Nonsense_Mutation_p.E1291*	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1340	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGCTCCACCTCCCCCACTAGT	0.557																																																	0													89.0	81.0	84.0					3																	49924925		2203	4300	6503	SO:0001587	stop_gained	4486			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.4018G>T	3.37:g.49924925C>A	ENSP00000296474:p.Glu1340*		B5A944|B5A945|B5A946|B5A947	Nonsense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E1340*	ENST00000296474.3	37	c.4018	CCDS2807.1	3	.	.	.	.	.	.	.	.	.	.	C	38	6.674727	0.97751	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	.	.	.	5.91	5.91	0.95273	.	0.094616	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-10.3433	12.4051	0.55434	0.0:0.9224:0.0:0.0776	.	.	.	.	X	1340;1291	.	ENSP00000296474:E1340X	E	-	1	0	MST1R	49899929	0.950000	0.32346	0.980000	0.43619	0.286000	0.27126	3.256000	0.51492	2.813000	0.96785	0.655000	0.94253	GAG	MST1R	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Prot_kinase_cat_dom		0.557	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	HGNC	protein_coding	OTTHUMT00000345403.1	C			49924925	-1	no_errors	ENST00000296474	ensembl	human	known	70_37	nonsense	SNP	0.996	A
MUC16	94025	genome.wustl.edu	37	19	9070110	9070110	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:9070110G>C	ENST00000397910.4	-	3	17539	c.17336C>G	c.(17335-17337)tCt>tGt	p.S5779C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5781	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGAATCAAAGAGGATGTTGA	0.463																																																	0													154.0	144.0	147.0					19																	9070110		1976	4170	6146	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17336C>G	19.37:g.9070110G>C	ENSP00000381008:p.Ser5779Cys		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S5779C	ENST00000397910.4	37	c.17336	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	2.169	-0.390375	0.04932	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.68	0.528	0.17089	.	.	.	.	.	T	0.05364	0.0142	L	0.50333	1.59	.	.	.	D	0.71674	0.998	P	0.52514	0.701	T	0.31052	-0.9957	8	0.87932	D	0	.	5.042	0.14463	0.0:0.0:0.6491:0.3509	.	5779	B5ME49	.	C	5779	ENSP00000381008:S5779C	ENSP00000381008:S5779C	S	-	2	0	MUC16	8931110	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.629000	0.24538	0.258000	0.21686	0.442000	0.29010	TCT	MUC16	-	NULL		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9070110	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.001	C
MUC16	94025	genome.wustl.edu	37	19	9070263	9070263	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:9070263G>C	ENST00000397910.4	-	3	17386	c.17183C>G	c.(17182-17184)tCt>tGt	p.S5728C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5730	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCATGTCCAGAAATGGAGGT	0.498																																																	0													147.0	142.0	144.0					19																	9070263		2086	4214	6300	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17183C>G	19.37:g.9070263G>C	ENSP00000381008:p.Ser5728Cys		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S5728C	ENST00000397910.4	37	c.17183	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	4.350	0.064357	0.08388	.	.	ENSG00000181143	ENST00000397910	T	0.32023	1.47	1.73	1.73	0.24493	.	.	.	.	.	T	0.41949	0.1181	L	0.48642	1.525	.	.	.	D	0.71674	0.998	D	0.68353	0.957	T	0.52638	-0.8549	8	0.87932	D	0	.	6.9277	0.24424	0.0:0.0:1.0:0.0	.	5728	B5ME49	.	C	5728	ENSP00000381008:S5728C	ENSP00000381008:S5728C	S	-	2	0	MUC16	8931263	0.004000	0.15560	0.001000	0.08648	0.017000	0.09413	1.365000	0.34182	1.289000	0.44618	0.462000	0.41574	TCT	MUC16	-	NULL		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9070263	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.003	C
MUC16	94025	genome.wustl.edu	37	19	9071029	9071029	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:9071029G>A	ENST00000397910.4	-	3	16620	c.16417C>T	c.(16417-16419)Cag>Tag	p.Q5473*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5475	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.Q5473*(2)|p.Q1106*(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTTAGTCTGAGAGATATTA	0.498																																																	3	Substitution - Nonsense(3)	lung(3)											129.0	127.0	127.0					19																	9071029		2028	4174	6202	SO:0001587	stop_gained	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16417C>T	19.37:g.9071029G>A	ENSP00000381008:p.Gln5473*		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.Q5473*	ENST00000397910.4	37	c.16417	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	56	25.913026	0.99967	.	.	ENSG00000181143	ENST00000397910	.	.	.	2.06	-4.12	0.03916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	2.827	0.05488	0.148:0.4141:0.3151:0.1228	.	.	.	.	X	5473	.	ENSP00000381008:Q5473X	Q	-	1	0	MUC16	8932029	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.145000	0.10265	-1.472000	0.01883	-2.140000	0.00339	CAG	MUC16	-	NULL		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9071029	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	nonsense	SNP	0.000	A
MUC16	94025	genome.wustl.edu	37	19	9071367	9071367	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:9071367G>A	ENST00000397910.4	-	3	16282	c.16079C>T	c.(16078-16080)tCc>tTc	p.S5360F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5362	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGAGGAGAGGAGGGGATGCT	0.532																																																	0													157.0	155.0	156.0					19																	9071367		2063	4207	6270	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16079C>T	19.37:g.9071367G>A	ENSP00000381008:p.Ser5360Phe		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S5360F	ENST00000397910.4	37	c.16079	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	2.346	-0.350011	0.05173	.	.	ENSG00000181143	ENST00000397910	T	0.30182	1.54	2.39	0.131	0.14755	.	.	.	.	.	T	0.19805	0.0476	L	0.32530	0.975	.	.	.	B	0.19583	0.037	B	0.21151	0.033	T	0.25606	-1.0127	8	0.87932	D	0	.	3.1465	0.06473	0.1525:0.0:0.5883:0.2593	.	5360	B5ME49	.	F	5360	ENSP00000381008:S5360F	ENSP00000381008:S5360F	S	-	2	0	MUC16	8932367	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.774000	0.26675	0.123000	0.18342	-0.656000	0.03901	TCC	MUC16	-	NULL		0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9071367	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	A
MUC16	94025	genome.wustl.edu	37	19	9071445	9071445	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:9071445G>C	ENST00000397910.4	-	3	16204	c.16001C>G	c.(16000-16002)tCt>tGt	p.S5334C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5336	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGACACAGAGCTGGTTTC	0.542																																																	0													106.0	110.0	108.0					19																	9071445		2043	4188	6231	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16001C>G	19.37:g.9071445G>C	ENSP00000381008:p.Ser5334Cys		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S5334C	ENST00000397910.4	37	c.16001	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	1.619	-0.521919	0.04171	.	.	ENSG00000181143	ENST00000397910	T	0.30714	1.52	2.04	-0.195	0.13236	.	.	.	.	.	T	0.17831	0.0428	L	0.32530	0.975	.	.	.	P	0.48640	0.913	B	0.37888	0.26	T	0.20207	-1.0282	8	0.87932	D	0	.	4.3071	0.10953	0.369:0.0:0.631:0.0	.	5334	B5ME49	.	C	5334	ENSP00000381008:S5334C	ENSP00000381008:S5334C	S	-	2	0	MUC16	8932445	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.452000	0.21795	0.020000	0.15106	-0.727000	0.03589	TCT	MUC16	-	NULL		0.542	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9071445	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	C
MUC16	94025	genome.wustl.edu	37	19	9071580	9071580	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:9071580G>A	ENST00000397910.4	-	3	16069	c.15866C>T	c.(15865-15867)tCa>tTa	p.S5289L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5291	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGTGTGGTTGATGTGTCCAA	0.507																																																	0													159.0	154.0	155.0					19																	9071580		2047	4199	6246	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15866C>T	19.37:g.9071580G>A	ENSP00000381008:p.Ser5289Leu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S5289L	ENST00000397910.4	37	c.15866	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	3.107	-0.183483	0.06340	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	1.94	-3.66	0.04489	.	.	.	.	.	T	0.02047	0.0064	L	0.27053	0.805	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.44997	-0.9291	8	0.87932	D	0	.	3.6059	0.08042	0.4115:0.1969:0.3916:0.0	.	5289	B5ME49	.	L	5289	ENSP00000381008:S5289L	ENSP00000381008:S5289L	S	-	2	0	MUC16	8932580	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.046000	0.11983	-0.905000	0.03871	-2.219000	0.00296	TCA	MUC16	-	NULL		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9071580	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	A
MUC16	94025	genome.wustl.edu	37	19	9071925	9071925	+	Missense_Mutation	SNP	G	G	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:9071925G>T	ENST00000397910.4	-	3	15724	c.15521C>A	c.(15520-15522)tCc>tAc	p.S5174Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5176	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCTCAGAGGAACCATGCAC	0.498																																																	0													293.0	276.0	282.0					19																	9071925		2009	4179	6188	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15521C>A	19.37:g.9071925G>T	ENSP00000381008:p.Ser5174Tyr		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S5174Y	ENST00000397910.4	37	c.15521	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	0.966	-0.701843	0.03255	.	.	ENSG00000181143	ENST00000397910	T	0.25749	1.78	1.25	0.0826	0.14429	.	.	.	.	.	T	0.23289	0.0563	L	0.38175	1.15	.	.	.	D	0.62365	0.991	P	0.50231	0.635	T	0.28364	-1.0046	8	0.87932	D	0	.	3.8649	0.09012	0.2575:0.0:0.7425:0.0	.	5174	B5ME49	.	Y	5174	ENSP00000381008:S5174Y	ENSP00000381008:S5174Y	S	-	2	0	MUC16	8932925	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.675000	0.05227	0.106000	0.17784	0.121000	0.15741	TCC	MUC16	-	NULL		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9071925	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	T
MUC16	94025	genome.wustl.edu	37	19	9072414	9072414	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:9072414G>A	ENST00000397910.4	-	3	15235	c.15032C>T	c.(15031-15033)tCa>tTa	p.S5011L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5013	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATCCAATTGTGAAAATCCATG	0.483																																																	0													111.0	104.0	106.0					19																	9072414		1942	4125	6067	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15032C>T	19.37:g.9072414G>A	ENSP00000381008:p.Ser5011Leu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S5011L	ENST00000397910.4	37	c.15032	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	12.23	1.875349	0.33162	.	.	ENSG00000181143	ENST00000397910	T	0.23147	1.92	2.3	2.3	0.28687	.	.	.	.	.	T	0.16385	0.0394	N	0.14661	0.345	.	.	.	B	0.31174	0.311	B	0.35550	0.205	T	0.20438	-1.0275	8	0.87932	D	0	.	8.3795	0.32463	0.0:0.0:1.0:0.0	.	5011	B5ME49	.	L	5011	ENSP00000381008:S5011L	ENSP00000381008:S5011L	S	-	2	0	MUC16	8933414	0.000000	0.05858	0.009000	0.14445	0.833000	0.47200	0.239000	0.18023	1.645000	0.50612	0.282000	0.19409	TCA	MUC16	-	NULL		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9072414	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.010	A
MUC16	94025	genome.wustl.edu	37	19	9072600	9072600	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:9072600G>T	ENST00000397910.4	-	3	15049	c.14846C>A	c.(14845-14847)tCa>tAa	p.S4949*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4951	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGTCTAGTGACACTGTGGA	0.507																																																	0													212.0	193.0	199.0					19																	9072600		2045	4200	6245	SO:0001587	stop_gained	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.14846C>A	19.37:g.9072600G>T	ENSP00000381008:p.Ser4949*		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S4949*	ENST00000397910.4	37	c.14846	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	56	27.127428	0.99970	.	.	ENSG00000181143	ENST00000397910	.	.	.	2.47	1.43	0.22495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.0946	0.14727	0.1698:0.0:0.8302:0.0	.	.	.	.	X	4949	.	ENSP00000381008:S4949X	S	-	2	0	MUC16	8933600	0.009000	0.17119	0.001000	0.08648	0.865000	0.49528	2.025000	0.41059	0.637000	0.30526	0.282000	0.19409	TCA	MUC16	-	NULL		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9072600	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	nonsense	SNP	0.001	T
MUC16	94025	genome.wustl.edu	37	19	9072723	9072723	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:9072723G>A	ENST00000397910.4	-	3	14926	c.14723C>T	c.(14722-14724)tCg>tTg	p.S4908L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4910	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCTGTGGACGAGGTGATCTC	0.493																																																	0													220.0	208.0	212.0					19																	9072723		2102	4226	6328	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.14723C>T	19.37:g.9072723G>A	ENSP00000381008:p.Ser4908Leu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S4908L	ENST00000397910.4	37	c.14723	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	5.626	0.300144	0.10622	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	2.36	0.142	0.14816	.	.	.	.	.	T	0.03220	0.0094	L	0.50333	1.59	.	.	.	B	0.13145	0.007	B	0.09377	0.004	T	0.22103	-1.0226	8	0.87932	D	0	.	4.8495	0.13530	0.3151:0.0:0.6849:0.0	.	4908	B5ME49	.	L	4908	ENSP00000381008:S4908L	ENSP00000381008:S4908L	S	-	2	0	MUC16	8933723	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	0.230000	0.17852	0.114000	0.18032	-0.750000	0.03501	TCG	MUC16	-	NULL		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9072723	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	A
MUC16	94025	genome.wustl.edu	37	19	9073656	9073656	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:9073656G>A	ENST00000397910.4	-	3	13993	c.13790C>T	c.(13789-13791)tCc>tTc	p.S4597F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4599	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCAGGGAGGATGTTGGCTC	0.512																																																	0													98.0	93.0	94.0					19																	9073656		2028	4180	6208	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13790C>T	19.37:g.9073656G>A	ENSP00000381008:p.Ser4597Phe		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S4597F	ENST00000397910.4	37	c.13790	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	2.866	-0.235054	0.05983	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.63	0.488	0.16848	.	.	.	.	.	T	0.04998	0.0134	L	0.53249	1.67	.	.	.	D	0.59357	0.985	P	0.49477	0.612	T	0.30534	-0.9975	8	0.87932	D	0	.	4.9858	0.14189	0.0:0.0:0.6469:0.3531	.	4597	B5ME49	.	F	4597	ENSP00000381008:S4597F	ENSP00000381008:S4597F	S	-	2	0	MUC16	8934656	0.000000	0.05858	0.014000	0.15608	0.078000	0.17371	-0.527000	0.06200	0.204000	0.20548	0.313000	0.20887	TCC	MUC16	-	NULL		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9073656	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.018	A
MUC16	94025	genome.wustl.edu	37	19	9073852	9073852	+	Missense_Mutation	SNP	G	G	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:9073852G>T	ENST00000397910.4	-	3	13797	c.13594C>A	c.(13594-13596)Cat>Aat	p.H4532N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4534	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGGAAGGATGAATAGTCTCT	0.458																																																	0													124.0	118.0	120.0					19																	9073852		1996	4160	6156	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13594C>A	19.37:g.9073852G>T	ENSP00000381008:p.His4532Asn		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.H4532N	ENST00000397910.4	37	c.13594	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	4.143	0.024855	0.08054	.	.	ENSG00000181143	ENST00000397910	T	0.27104	1.69	1.5	1.5	0.22942	.	.	.	.	.	T	0.15998	0.0385	L	0.38175	1.15	.	.	.	P	0.39809	0.689	B	0.32022	0.139	T	0.19811	-1.0294	8	0.87932	D	0	.	6.4164	0.21719	0.0:0.0:1.0:0.0	.	4532	B5ME49	.	N	4532	ENSP00000381008:H4532N	ENSP00000381008:H4532N	H	-	1	0	MUC16	8934852	0.001000	0.12720	0.003000	0.11579	0.195000	0.23768	0.786000	0.26844	1.104000	0.41587	0.313000	0.20887	CAT	MUC16	-	NULL		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9073852	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.004	T
MUC4	4585	genome.wustl.edu	37	3	195507218	195507218	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:195507218G>C	ENST00000463781.3	-	2	11692	c.11233C>G	c.(11233-11235)Ctt>Gtt	p.L3745V	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.L3745V|MUC4_ENST00000349607.4_Intron	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)		GTGACAGGAAGAGGGGTGACG	0.587																																																	0																																										SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11233C>G	3.37:g.195507218G>C	ENSP00000417498:p.Leu3745Val		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.L3745V	ENST00000463781.3	37	c.11233	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	g	3.286	-0.146078	0.06627	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.59364	0.98;0.27	0.885	0.885	0.19188	.	0.000000	0.23012	U	0.052950	T	0.31420	0.0796	N	0.19112	0.55	0.09310	N	1	B	0.28233	0.204	B	0.17979	0.02	T	0.07481	-1.0770	9	.	.	.	.	4.0982	0.10002	0.0:0.0:0.5977:0.4023	.	3617	E7ESK3	.	V	3745	ENSP00000417498:L3745V;ENSP00000420243:L3745V	.	L	-	1	0	MUC4	196991997	0.000000	0.05858	0.021000	0.16686	0.047000	0.14425	-0.686000	0.05161	0.413000	0.25759	0.064000	0.15345	CTT	MUC4	-	NULL		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195507218	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.000	C
MUC4	4585	genome.wustl.edu	37	3	195511900	195511900	+	Nonsense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:195511900G>C	ENST00000463781.3	-	2	7010	c.6551C>G	c.(6550-6552)tCa>tGa	p.S2184*	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Nonsense_Mutation_p.S2184*|MUC4_ENST00000349607.4_Intron	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)		TGTGGATGCTGAGGAAGTGTC	0.592																																																	0													8.0	13.0	12.0					3																	195511900		617	1522	2139	SO:0001587	stop_gained	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6551C>G	3.37:g.195511900G>C	ENSP00000417498:p.Ser2184*		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Nonsense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.S2184*	ENST00000463781.3	37	c.6551	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	G	44	10.636110	0.99442	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4633	0.16630	1.0E-4:0.3513:0.6486:0.0	.	.	.	.	X	2184	.	.	S	-	2	0	MUC4	196996295	0.138000	0.22547	0.002000	0.10522	0.046000	0.14306	0.615000	0.24329	-0.812000	0.04363	0.064000	0.15345	TCA	MUC4	-	NULL		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195511900	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	nonsense	SNP	0.076	C
MUM1	84939	genome.wustl.edu	37	19	1360804	1360804	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:1360804G>A	ENST00000415183.3	+	4	913	c.887G>A	c.(886-888)gGa>gAa	p.G296E	MUM1_ENST00000344663.3_Missense_Mutation_p.G296E|MUM1_ENST00000591806.1_Missense_Mutation_p.G296E|MUM1_ENST00000311401.5_Missense_Mutation_p.G227E			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	295	Pro-rich.				chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAGAGCCTGGAGAATGCCCT	0.706																																																	0													10.0	11.0	11.0					19																	1360804		2190	4282	6472	SO:0001583	missense	84939			AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.887G>A	19.37:g.1360804G>A	ENSP00000394925:p.Gly296Glu		A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	pfam_PWWP	p.G296E	ENST00000415183.3	37	c.887		19	.	.	.	.	.	.	.	.	.	.	G	10.46	1.357028	0.24598	.	.	ENSG00000160953	ENST00000344663;ENST00000311401;ENST00000415183	T;T;T	0.25085	1.84;1.83;1.82	3.71	-2.51	0.06365	.	5.527050	0.00166	N	0.000003	T	0.14743	0.0356	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.17038	0.02;0.02;0.013;0.008	B;B;B;B	0.21917	0.011;0.018;0.037;0.016	T	0.15636	-1.0430	10	0.23302	T	0.38	.	5.3019	0.15783	0.3555:0.1536:0.4909:0.0	.	296;296;227;295	B7ZLY8;D6W5Y8;Q2TAK8-2;Q2TAK8	.;.;.;MUM1_HUMAN	E	296;227;296	ENSP00000345789:G296E;ENSP00000309135:G227E;ENSP00000394925:G296E	ENSP00000309135:G227E	G	+	2	0	MUM1	1311804	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.918000	0.04021	-0.435000	0.07264	0.484000	0.47621	GGA	MUM1	-	NULL		0.706	MUM1-016	NOVEL	basic|exp_conf	protein_coding	MUM1	HGNC	protein_coding	OTTHUMT00000449510.1	G	NM_032853		1360804	+1	no_errors	ENST00000344663	ensembl	human	known	70_37	missense	SNP	0.000	A
MYH13	8735	genome.wustl.edu	37	17	10215384	10215384	+	Nonsense_Mutation	SNP	C	C	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:10215384C>A	ENST00000418404.3	-	31	4538	c.4375G>T	c.(4375-4377)Gag>Tag	p.E1459*	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Nonsense_Mutation_p.E1459*			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1459					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGCTTCCACTCTGCAAGGACC	0.512																																																	0													60.0	58.0	59.0					17																	10215384		1970	4176	6146	SO:0001587	stop_gained	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4375G>T	17.37:g.10215384C>A	ENSP00000404570:p.Glu1459*		O95252|Q9P0U8	Nonsense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1459*	ENST00000418404.3	37	c.4375	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	C	45	11.920588	0.99617	.	.	ENSG00000006788	ENST00000252172	.	.	.	4.45	4.45	0.53987	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.6487	0.88157	0.0:1.0:0.0:0.0	.	.	.	.	X	1459	.	ENSP00000252172:E1459X	E	-	1	0	MYH13	10156109	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.604000	0.82830	2.465000	0.83290	0.655000	0.94253	GAG	MYH13	-	pfam_Myosin_tail		0.512	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	C	NM_003802		10215384	-1	no_errors	ENST00000252172	ensembl	human	known	70_37	nonsense	SNP	1.000	A
RECQL5	9400	genome.wustl.edu	37	17	73620043	73620043	+	IGR	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:73620043G>A	ENST00000317905.5	-	0	3704				MYO15B_ENST00000578382.2_3'UTR|RECQL5_ENST00000443199.2_5'Flank	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5						chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CACTGCACTCGAGGCTGGAGC	0.652								Other identified genes with known or suspected DNA repair function																																									0																																										SO:0001628	intergenic_variant	80022			AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762			17.37:g.73620043G>A			Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom	p.R115Q	ENST00000317905.5	37	c.344	CCDS42380.1	17	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376888	0.82682	.	.	ENSG00000188126	ENST00000293201	D	0.92805	-3.11	4.47	2.42	0.29668	.	.	.	.	.	D	0.94568	0.8250	.	.	.	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.70935	0.971;0.954	D	0.86335	0.1701	8	0.72032	D	0.01	-8.9611	7.5299	0.27677	0.0896:0.0:0.7403:0.1701	.	115;89	Q9H614;Q8TCJ6	.;.	Q	115	ENSP00000293201:R115Q	ENSP00000293201:R115Q	R	+	2	0	MYO15B	71131638	0.005000	0.15991	0.366000	0.25914	0.564000	0.35744	1.005000	0.29834	0.461000	0.27071	0.455000	0.32223	CGA	MYO15B	-	pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom		0.652	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	MYO15B	HGNC	protein_coding	OTTHUMT00000448207.1	G	NM_004259		73620043	+1	no_errors	ENST00000293201	ensembl	human	known	70_37	missense	SNP	0.245	A
MYO7B	4648	genome.wustl.edu	37	2	128366440	128366440	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:128366440C>T	ENST00000409816.2	+	21	2833	c.2801C>T	c.(2800-2802)tCg>tTg	p.S934L	MYO7B_ENST00000389524.4_Missense_Mutation_p.S934L|MYO7B_ENST00000428314.1_Missense_Mutation_p.S934L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	934						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGCCAGGCCTCGCCGCACTTT	0.627																																																	0													30.0	35.0	33.0					2																	128366440		2074	4189	6263	SO:0001583	missense	4648				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2801C>T	2.37:g.128366440C>T	ENSP00000386461:p.Ser934Leu		Q14786|Q8TEE1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.S934L	ENST00000409816.2	37	c.2801	CCDS46405.1	2	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497814	0.64186	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.87334	-2.24;-2.24;-2.24	5.44	5.44	0.79542	.	0.443816	0.23116	N	0.051758	T	0.80691	0.4671	N	0.22421	0.69	0.09310	N	0.999999	B	0.22800	0.075	B	0.15870	0.014	T	0.71451	-0.4589	10	0.51188	T	0.08	.	17.0541	0.86529	0.0:1.0:0.0:0.0	.	934	Q6PIF6	MYO7B_HUMAN	L	934	ENSP00000374175:S934L;ENSP00000415090:S934L;ENSP00000386461:S934L	ENSP00000374175:S934L	S	+	2	0	MYO7B	128082910	0.421000	0.25465	0.005000	0.12908	0.224000	0.24922	5.284000	0.65627	2.548000	0.85928	0.462000	0.41574	TCG	MYO7B	-	NULL		0.627	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	C	XM_291001		128366440	+1	no_errors	ENST00000389524	ensembl	human	known	70_37	missense	SNP	0.174	T
MYOC	4653	genome.wustl.edu	37	1	171621374	171621374	+	Silent	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:171621374C>T	ENST00000037502.6	-	1	449	c.378G>A	c.(376-378)cgG>cgA	p.R126R		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	126			R -> W (in GLC1A; dbSNP:rs200120115). {ECO:0000269|PubMed:12189160}.		bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GGTCCCGCTCCCGCCTCAGGG	0.617																																																	0													64.0	71.0	69.0					1																	171621374		2203	4300	6503	SO:0001819	synonymous_variant	4653			BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.378G>A	1.37:g.171621374C>T			B2RD84|O00620|Q7Z6Q9	Silent	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.R126	ENST00000037502.6	37	c.378	CCDS1297.1	1																																																																																			MYOC	-	NULL		0.617	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOC	HGNC	protein_coding	OTTHUMT00000084178.2	C	NM_000261		171621374	-1	no_errors	ENST00000037502	ensembl	human	known	70_37	silent	SNP	0.012	T
N4BP2	55728	genome.wustl.edu	37	4	40103779	40103779	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr4:40103779C>G	ENST00000261435.6	+	4	730	c.314C>G	c.(313-315)tCt>tGt	p.S105C		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	105					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TTCGTTGCTTCTGAGAACCAA	0.358																																																	0													85.0	84.0	84.0					4																	40103779		2203	4300	6503	SO:0001583	missense	55728			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.314C>G	4.37:g.40103779C>G	ENSP00000261435:p.Ser105Cys		A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C	p.S105C	ENST00000261435.6	37	c.314	CCDS3457.1	4	.	.	.	.	.	.	.	.	.	.	C	10.29	1.308251	0.23821	.	.	ENSG00000078177	ENST00000261435;ENST00000381804;ENST00000515550	T;T	0.80304	-1.36;-1.36	6.08	4.09	0.47781	.	1.168080	0.06162	N	0.676150	T	0.78496	0.4292	N	0.24115	0.695	0.20821	N	0.999841	D;D	0.67145	0.996;0.993	P;P	0.56216	0.794;0.628	T	0.65463	-0.6162	10	0.51188	T	0.08	-1.5801	5.1683	0.15098	0.0:0.405:0.4615:0.1334	.	105;105	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	C	105;25;25	ENSP00000261435:S105C;ENSP00000422057:S25C	ENSP00000261435:S105C	S	+	2	0	N4BP2	39780174	0.991000	0.36638	0.966000	0.40874	0.751000	0.42716	0.540000	0.23191	1.545000	0.49373	0.591000	0.81541	TCT	N4BP2	-	NULL		0.358	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP2	HGNC	protein_coding	OTTHUMT00000250458.2	C	NM_018177		40103779	+1	no_errors	ENST00000261435	ensembl	human	known	70_37	missense	SNP	0.845	G
N4BP2	55728	genome.wustl.edu	37	4	40103848	40103848	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr4:40103848C>T	ENST00000261435.6	+	4	799	c.383C>T	c.(382-384)tCa>tTa	p.S128L		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	128					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AGTGAAGATTCAAAAATGGAT	0.373																																																	0													96.0	93.0	94.0					4																	40103848		2203	4300	6503	SO:0001583	missense	55728			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.383C>T	4.37:g.40103848C>T	ENSP00000261435:p.Ser128Leu		A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C	p.S128L	ENST00000261435.6	37	c.383	CCDS3457.1	4	.	.	.	.	.	.	.	.	.	.	C	16.41	3.114329	0.56505	.	.	ENSG00000078177	ENST00000261435;ENST00000381804;ENST00000515550	T;T	0.78924	-1.22;-1.22	5.31	5.31	0.75309	.	0.588554	0.15826	N	0.242750	T	0.68100	0.2964	L	0.32530	0.975	0.09310	N	1	P;P	0.43938	0.822;0.728	B;B	0.41510	0.359;0.196	T	0.64618	-0.6365	10	0.66056	D	0.02	-9.3791	8.4463	0.32843	0.1551:0.7662:0.0:0.0787	.	128;128	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	L	128;48;48	ENSP00000261435:S128L;ENSP00000422057:S48L	ENSP00000261435:S128L	S	+	2	0	N4BP2	39780243	0.030000	0.19436	0.999000	0.59377	0.836000	0.47400	1.798000	0.38814	2.779000	0.95612	0.591000	0.81541	TCA	N4BP2	-	NULL		0.373	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP2	HGNC	protein_coding	OTTHUMT00000250458.2	C	NM_018177		40103848	+1	no_errors	ENST00000261435	ensembl	human	known	70_37	missense	SNP	0.027	T
NFASC	23114	genome.wustl.edu	37	1	204939816	204939816	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:204939816G>A	ENST00000401399.1	+	10	1275	c.1076G>A	c.(1075-1077)cGa>cAa	p.R359Q	NFASC_ENST00000404907.1_Missense_Mutation_p.R370Q|NFASC_ENST00000367172.4_Missense_Mutation_p.R359Q|NFASC_ENST00000403080.1_Missense_Mutation_p.R359Q|NFASC_ENST00000339876.6_Missense_Mutation_p.R359Q|NFASC_ENST00000367170.4_Missense_Mutation_p.R359Q|NFASC_ENST00000513543.1_Missense_Mutation_p.R370Q|NFASC_ENST00000367169.4_Missense_Mutation_p.R359Q|NFASC_ENST00000539706.1_Missense_Mutation_p.R370Q|NFASC_ENST00000360049.4_Missense_Mutation_p.R370Q|NFASC_ENST00000367171.4_Missense_Mutation_p.R359Q|NFASC_ENST00000338515.6_Missense_Mutation_p.R359Q|NFASC_ENST00000338586.6_Missense_Mutation_p.R359Q|NFASC_ENST00000404076.1_Missense_Mutation_p.R353Q			O94856	NFASC_HUMAN	neurofascin	359	Ig-like C2-type 4.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTGGTGTGTCGAGCCAATGGA	0.542																																																	0													120.0	96.0	104.0					1																	204939816		2203	4300	6503	SO:0001583	missense	23114			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.1076G>A	1.37:g.204939816G>A	ENSP00000385637:p.Arg359Gln		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R359Q	ENST00000401399.1	37	c.1076	CCDS53460.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.088384|4.088384	0.76756|0.76756	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367173|ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.66280	.|-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|0.000000	.|0.44285	.|D	.|0.000463	T|T	0.51126|0.51126	0.1656|0.1656	L|L	0.52266|0.52266	1.64|1.64	0.80722|0.80722	D|D	1|1	.|D;B;P;P;B;B;P	.|0.53312	.|0.959;0.3;0.881;0.515;0.241;0.179;0.619	.|B;B;B;B;B;B;B	.|0.35655	.|0.126;0.012;0.207;0.01;0.008;0.005;0.056	T|T	0.53968|0.53968	-0.8363|-0.8363	5|10	.|0.30854	.|T	.|0.27	.|.	13.5957|13.5957	0.61988|0.61988	0.075:0.0:0.925:0.0|0.075:0.0:0.925:0.0	.|.	.|370;370;455;359;359;370;359	.|O94856-11;O94856-8;B4DRH7;F8W791;O94856-9;O94856-3;O94856-2	.|.;.;.;.;.;.;.	K|Q	329|359;359;359;359;359;359;370;370;370;359;359;353;359;370;370;346	.|ENSP00000356140:R359Q;ENSP00000356139:R359Q;ENSP00000356138:R359Q;ENSP00000342128:R359Q;ENSP00000344786:R359Q;ENSP00000343509:R359Q;ENSP00000438614:R370Q;ENSP00000353154:R370Q;ENSP00000356137:R359Q;ENSP00000384875:R359Q;ENSP00000385676:R353Q;ENSP00000385637:R359Q;ENSP00000384061:R370Q;ENSP00000425908:R370Q;ENSP00000415031:R346Q	.|ENSP00000295776:R370Q	E|R	+|+	1|2	0|0	NFASC|NFASC	203206439|203206439	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.545000|5.545000	0.67237|0.67237	2.657000|2.657000	0.90304|0.90304	0.655000|0.655000	0.94253|0.94253	GAG|CGA	NFASC	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.542	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1	G	NM_001005388		204939816	+1	no_errors	ENST00000367172	ensembl	human	known	70_37	missense	SNP	1.000	A
NENF	29937	genome.wustl.edu	37	1	212619333	212619333	+	Silent	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:212619333C>T	ENST00000366988.3	+	4	561	c.504C>T	c.(502-504)atC>atT	p.I168I	NENF_ENST00000473900.1_3'UTR	NM_013349.4	NP_037481.1	Q9UMX5	NENF_HUMAN	neudesin neurotrophic factor	168					positive regulation of MAPK cascade (GO:0043410)	extracellular space (GO:0005615)	heme binding (GO:0020037)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(2)	4				all cancers(67;0.00967)|OV - Ovarian serous cystadenocarcinoma(81;0.0108)|GBM - Glioblastoma multiforme(131;0.0325)|Epithelial(68;0.132)		ATTTTGACATCAAGGATGAGT	0.542																																																	0													94.0	85.0	88.0					1																	212619333		2203	4300	6503	SO:0001819	synonymous_variant	29937				CCDS1505.1	1q32.3	2011-07-05	2011-07-05		ENSG00000117691	ENSG00000117691			30384	protein-coding gene	gene with protein product	"""neudesin"""	611874	"""neuron derived neurotrophic factor"""			9771976, 15605373	Standard	NM_013349		Approved	CIR2, SCIRP10, SPUF	uc001hjd.3	Q9UMX5	OTTHUMG00000036744	ENST00000366988.3:c.504C>T	1.37:g.212619333C>T			A1KYQ8|Q53FZ6|Q5TM90	Silent	SNP	pfam_Cyt_B5,superfamily_Cyt_B5	p.I168	ENST00000366988.3	37	c.504	CCDS1505.1	1																																																																																			NENF	-	NULL		0.542	NENF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NENF	HGNC	protein_coding	OTTHUMT00000089291.1	C	NM_013349		212619333	+1	no_errors	ENST00000366988	ensembl	human	known	70_37	silent	SNP	0.994	T
NID1	4811	genome.wustl.edu	37	1	236212096	236212096	+	Missense_Mutation	SNP	C	C	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:236212096C>A	ENST00000264187.6	-	2	501	c.419G>T	c.(418-420)aGa>aTa	p.R140I	NID1_ENST00000366595.3_Missense_Mutation_p.R140I	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	140	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CGGGAACCCTCTGTGGACACA	0.582																																																	0													58.0	61.0	60.0					1																	236212096		2203	4300	6503	SO:0001583	missense	4811			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.419G>T	1.37:g.236212096C>A	ENSP00000264187:p.Arg140Ile		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.R140I	ENST00000264187.6	37	c.419	CCDS1608.1	1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760970	0.89932	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.24350	1.86;1.86	4.81	3.87	0.44632	Nidogen, extracellular domain (2);	0.204116	0.49916	D	0.000129	T	0.37293	0.0998	L	0.52364	1.645	0.51233	D	0.999919	D;D	0.63046	0.98;0.992	P;P	0.56700	0.804;0.794	T	0.11203	-1.0597	10	0.52906	T	0.07	.	13.5891	0.61948	0.0:0.9232:0.0:0.0768	.	140;140	P14543-2;P14543	.;NID1_HUMAN	I	140	ENSP00000264187:R140I;ENSP00000355554:R140I	ENSP00000264187:R140I	R	-	2	0	NID1	234278719	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.884000	0.48562	2.495000	0.84180	0.655000	0.94253	AGA	NID1	-	smart_Nidogen_extracell_dom		0.582	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID1	HGNC	protein_coding	OTTHUMT00000096647.2	C	NM_002508		236212096	-1	no_errors	ENST00000264187	ensembl	human	known	70_37	missense	SNP	1.000	A
NONO	4841	genome.wustl.edu	37	X	70516458	70516458	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:70516458G>C	ENST00000276079.8	+	6	899	c.694G>C	c.(694-696)Gat>Cat	p.D232H	NONO_ENST00000490044.1_3'UTR|NONO_ENST00000535149.1_Missense_Mutation_p.D143H|NONO_ENST00000373856.3_Missense_Mutation_p.D232H|NONO_ENST00000373841.1_Missense_Mutation_p.D232H	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	232	DBHS.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					CCAGTTAGATGATGAAGAGGG	0.413			T	TFE3	papillary renal cancer																																			Dom	yes		X	Xq13.1	4841	"""non-POU domain containing, octamer-binding"""		E	0													84.0	60.0	68.0					X																	70516458		2203	4300	6503	SO:0001583	missense	4841			L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.694G>C	X.37:g.70516458G>C	ENSP00000276079:p.Asp232His		B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Missense_Mutation	SNP	pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom	p.D232H	ENST00000276079.8	37	c.694	CCDS14410.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	24.1|24.1	4.494846|4.494846	0.85069|0.85069	.|.	.|.	ENSG00000147140|ENSG00000147140	ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841|ENST00000418921	T;T;T;T|.	0.22945|.	1.94;1.93;1.93;1.93|.	4.57|4.57	4.57|4.57	0.56435|0.56435	NOPS (1);|.	0.100182|.	0.64402|.	D|.	0.000002|.	D|D	0.83372|0.83372	0.5240|0.5240	M|M	0.89478|0.89478	3.035|3.035	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.75020|.	0.985|.	D|D	0.86906|0.86906	0.2057|0.2057	10|5	0.87932|.	D|.	0|.	-12.7535|-12.7535	16.9552|16.9552	0.86257|0.86257	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	232|.	Q15233|.	NONO_HUMAN|.	H|I	143;232;232;232|93	ENSP00000441364:D143H;ENSP00000276079:D232H;ENSP00000362963:D232H;ENSP00000362947:D232H|.	ENSP00000276079:D232H|.	D|M	+|+	1|3	0|0	NONO|NONO	70433183|70433183	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.612000|7.612000	0.82975|0.82975	2.269000|2.269000	0.75478|0.75478	0.529000|0.529000	0.55759|0.55759	GAT|ATG	NONO	-	pfam_NOPS		0.413	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NONO	HGNC	protein_coding	OTTHUMT00000057138.1	G	NM_007363		70516458	+1	no_errors	ENST00000276079	ensembl	human	known	70_37	missense	SNP	1.000	C
NPY2R	4887	genome.wustl.edu	37	4	156135547	156135547	+	Silent	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr4:156135547C>T	ENST00000329476.3	+	2	945	c.456C>T	c.(454-456)atC>atT	p.I152I	NPY2R_ENST00000506608.1_Silent_p.I152I	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	152					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	ACAGGTGCATCGTCTACCACC	0.572																																																	0													56.0	51.0	53.0					4																	156135547		2203	4300	6503	SO:0001819	synonymous_variant	4887			U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.456C>T	4.37:g.156135547C>T			Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt	p.I152	ENST00000329476.3	37	c.456	CCDS3791.1	4																																																																																			NPY2R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPFF_rcpt		0.572	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY2R	HGNC	protein_coding	OTTHUMT00000365128.1	C	NM_000910		156135547	+1	no_errors	ENST00000329476	ensembl	human	known	70_37	silent	SNP	0.992	T
NR2C2AP	126382	genome.wustl.edu	37	19	19313682	19313682	+	Nonsense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:19313682G>C	ENST00000331552.7	-	2	410	c.47C>G	c.(46-48)tCa>tGa	p.S16*	NR2C2AP_ENST00000544883.1_Nonsense_Mutation_p.S16*|NR2C2AP_ENST00000538165.2_Nonsense_Mutation_p.S16*|NR2C2AP_ENST00000420605.3_Nonsense_Mutation_p.S16*	NM_176880.4	NP_795361.1	Q86WQ0	NR2CA_HUMAN	nuclear receptor 2C2-associated protein	16					cell adhesion (GO:0007155)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|kidney(2)|ovary(1)	5			Epithelial(12;0.00235)			ATTCAGCACTGAACTCACCCT	0.577																																																	0													88.0	85.0	86.0					19																	19313682		2203	4300	6503	SO:0001587	stop_gained	126382			AY101377	CCDS32967.1, CCDS74316.1	19p13.11	2008-01-10				ENSG00000184162			30763	protein-coding gene	gene with protein product	"""TR4 orphan receptor associated protein TRA16"""	608719				12486131	Standard	XM_005259740		Approved	TRA16	uc002nlx.3	Q86WQ0		ENST00000331552.7:c.47C>G	19.37:g.19313682G>C	ENSP00000332823:p.Ser16*		A6NGP7|B4DW92	Nonsense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like	p.S16*	ENST00000331552.7	37	c.47	CCDS32967.1	19	.	.	.	.	.	.	.	.	.	.	G	39	7.535311	0.98345	.	.	ENSG00000184162	ENST00000331552;ENST00000420605;ENST00000544883	.	.	.	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.1948	11.6738	0.51417	0.0:0.0:1.0:0.0	.	.	.	.	X	16	.	ENSP00000332823:S16X	S	-	2	0	NR2C2AP	19174682	1.000000	0.71417	0.415000	0.26534	0.857000	0.48899	7.693000	0.84214	2.121000	0.65114	0.462000	0.41574	TCA	NR2C2AP	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like		0.577	NR2C2AP-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NR2C2AP	HGNC	protein_coding	OTTHUMT00000402936.4	G	NM_176880		19313682	-1	no_errors	ENST00000331552	ensembl	human	known	70_37	nonsense	SNP	0.946	C
NR2E1	7101	genome.wustl.edu	37	6	108508587	108508587	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:108508587G>A	ENST00000368986.4	+	9	1786	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	NR2E1_ENST00000368983.3_Missense_Mutation_p.E397K	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	360	Required for transcriptional repression. {ECO:0000250}.				aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.E360K(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		AACTATAGAAGAAGTGTTTTT	0.403																																																	1	Substitution - Missense(1)	skin(1)											176.0	171.0	173.0					6																	108508587		2203	4300	6503	SO:0001583	missense	7101			Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"""Nuclear hormone receptors"""	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.1078G>A	6.37:g.108508587G>A	ENSP00000357982:p.Glu360Lys		Q6ZMP8	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.E360K	ENST00000368986.4	37	c.1078	CCDS5063.1	6	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454710	0.63290	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	T;T	0.69040	-0.37;-0.37	5.73	5.73	0.89815	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.043850	0.85682	D	0.000000	T	0.71307	0.3324	M	0.67397	2.05	0.80722	D	1	D	0.54397	0.966	P	0.56343	0.796	T	0.65549	-0.6141	10	0.24483	T	0.36	.	19.8807	0.96899	0.0:0.0:1.0:0.0	.	360	Q9Y466	NR2E1_HUMAN	K	360;397	ENSP00000357982:E360K;ENSP00000357979:E397K	ENSP00000357979:E397K	E	+	1	0	NR2E1	108615280	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.468000	0.97676	2.716000	0.92895	0.655000	0.94253	GAA	NR2E1	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd		0.403	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2E1	HGNC	protein_coding	OTTHUMT00000041712.2	G			108508587	+1	no_errors	ENST00000368986	ensembl	human	known	70_37	missense	SNP	1.000	A
NR3C1	2908	genome.wustl.edu	37	5	142780248	142780248	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:142780248G>C	ENST00000343796.2	-	2	1150	c.157C>G	c.(157-159)Caa>Gaa	p.Q53E	NR3C1_ENST00000394466.2_Missense_Mutation_p.Q53E|NR3C1_ENST00000424646.2_Missense_Mutation_p.Q53E|NR3C1_ENST00000415690.2_Missense_Mutation_p.Q53E|NR3C1_ENST00000504572.1_Missense_Mutation_p.Q53E|NR3C1_ENST00000503201.1_Missense_Mutation_p.Q53E|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000231509.3_Missense_Mutation_p.Q53E|NR3C1_ENST00000394464.2_Missense_Mutation_p.Q53E	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	53	Modulating.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	GAGTCTGATTGAGAAGCGACA	0.483																																																	0													99.0	97.0	98.0					5																	142780248		2203	4300	6503	SO:0001583	missense	2908			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.157C>G	5.37:g.142780248G>C	ENSP00000343205:p.Gln53Glu		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	pfam_Glcrtcd_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Glcrtcd_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.Q53E	ENST00000343796.2	37	c.157	CCDS4278.1	5	.	.	.	.	.	.	.	.	.	.	G	9.442	1.088269	0.20390	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000503201;ENST00000510170;ENST00000508760;ENST00000502892;ENST00000514699;ENST00000502500	T;T;T;T;T;T;T;T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29	5.14	5.14	0.70334	.	0.447718	0.24309	N	0.039651	T	0.42200	0.1192	M	0.78049	2.395	0.80722	D	1	B;B;B	0.23185	0.002;0.081;0.0	B;B;B	0.24269	0.006;0.052;0.006	T	0.31558	-0.9939	10	0.33141	T	0.24	.	15.0467	0.71833	0.0:0.1423:0.8577:0.0	.	53;53;53	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	E	53	ENSP00000377977:Q53E;ENSP00000343205:Q53E;ENSP00000387672:Q53E;ENSP00000405282:Q53E;ENSP00000422518:Q53E;ENSP00000377979:Q53E;ENSP00000231509:Q53E;ENSP00000427672:Q53E;ENSP00000424747:Q53E;ENSP00000425313:Q53E;ENSP00000420856:Q53E;ENSP00000426478:Q53E;ENSP00000425374:Q53E	ENSP00000231509:Q53E	Q	-	1	0	NR3C1	142760441	1.000000	0.71417	0.958000	0.39756	0.342000	0.28953	4.778000	0.62368	2.400000	0.81607	0.561000	0.74099	CAA	NR3C1	-	pfam_Glcrtcd_rcpt		0.483	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	NR3C1	HGNC	protein_coding	OTTHUMT00000370829.1	G			142780248	-1	no_errors	ENST00000231509	ensembl	human	known	70_37	missense	SNP	1.000	C
NRAS	4893	genome.wustl.edu	37	1	115256495	115256495	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:115256495C>T	ENST00000369535.4	-	3	469	c.216G>A	c.(214-216)atG>atA	p.M72I		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	72					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)			NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGCCTGTCCTCATGTATTGGT	0.413		50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																														Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"""L, E"""	0													187.0	160.0	170.0					1																	115256495		2203	4300	6503	SO:0001583	missense	4893	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.216G>A	1.37:g.115256495C>T	ENSP00000358548:p.Met72Ile		Q14971|Q15104|Q15282	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.M72I	ENST00000369535.4	37	c.216	CCDS877.1	1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985033	0.93044	.	.	ENSG00000213281	ENST00000369535	T	0.76186	-1.0	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.64402	U	0.000001	T	0.58906	0.2155	N	0.04994	-0.135	0.80722	D	1	P	0.42409	0.779	P	0.49887	0.625	T	0.70714	-0.4796	10	0.62326	D	0.03	.	18.6626	0.91477	0.0:1.0:0.0:0.0	.	72	P01111	RASN_HUMAN	I	72	ENSP00000358548:M72I	ENSP00000358548:M72I	M	-	3	0	NRAS	115058018	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.573000	0.82421	2.624000	0.88883	0.655000	0.94253	ATG	NRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom		0.413	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAS	HGNC	protein_coding	OTTHUMT00000033395.2	C	NM_002524		115256495	-1	no_errors	ENST00000369535	ensembl	human	known	70_37	missense	SNP	1.000	T
NRBP1	29959	genome.wustl.edu	37	2	27656621	27656621	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:27656621G>C	ENST00000233557.3	+	4	1124	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	NRBP1_ENST00000379852.3_Missense_Mutation_p.E98Q|NRBP1_ENST00000379863.3_Missense_Mutation_p.E98Q			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	98	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TGTGTGGAATGAGGTACAGTT	0.463																																																	0													120.0	116.0	118.0					2																	27656621		2203	4300	6503	SO:0001583	missense	29959			AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.292G>C	2.37:g.27656621G>C	ENSP00000233557:p.Glu98Gln		B3KV40|D6W558|Q53FZ5|Q96SU3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E98Q	ENST00000233557.3	37	c.292	CCDS1753.1	2	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899998	0.92035	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863;ENST00000419281	T;T;T	0.73681	-0.77;-0.77;-0.77	5.26	5.26	0.73747	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80215	0.4582	L	0.38175	1.15	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.966;0.987	T	0.76857	-0.2804	10	0.26408	T	0.33	-14.2957	17.4069	0.87476	0.0:0.0:1.0:0.0	.	98;98	F8W6G1;Q9UHY1	.;NRBP_HUMAN	Q	98;78;98;98;98	ENSP00000233557:E98Q;ENSP00000369181:E98Q;ENSP00000369192:E98Q	ENSP00000233557:E98Q	E	+	1	0	NRBP1	27510125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.352000	0.97076	2.458000	0.83093	0.561000	0.74099	GAG	NRBP1	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.463	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRBP1	HGNC	protein_coding	OTTHUMT00000215033.1	G	NM_013392		27656621	+1	no_errors	ENST00000233557	ensembl	human	known	70_37	missense	SNP	1.000	C
NUBPL	80224	genome.wustl.edu	37	14	32295840	32295840	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr14:32295840G>A	ENST00000281081.7	+	8	658	c.613G>A	c.(613-615)Gtg>Atg	p.V205M	NUBPL_ENST00000536705.1_Missense_Mutation_p.V109M|NUBPL_ENST00000418681.2_3'UTR	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	205					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrion morphogenesis (GO:0070584)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		GCTAGGTGCTGTGATTGTCTC	0.423																																																	0													83.0	79.0	80.0					14																	32295840		1983	4175	6158	SO:0001583	missense	80224			AK022722	CCDS41940.1	14q12	2012-10-12	2005-01-07	2005-01-07	ENSG00000151413	ENSG00000151413		"""Mitochondrial respiratory chain complex assembly factors"""	20278	protein-coding gene	gene with protein product	"""iron-sulfur protein required for NADH dehydrogenase"""	613621	"""chromosome 14 open reading frame 127"""	C14orf127			Standard	NM_025152		Approved	FLJ12660, IND1, huInd1	uc001wrk.4	Q8TB37	OTTHUMG00000170521	ENST00000281081.7:c.613G>A	14.37:g.32295840G>A	ENSP00000281081:p.Val205Met		B4DHZ1|Q86TZ4|Q9H9M2	Missense_Mutation	SNP	pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1	p.V205M	ENST00000281081.7	37	c.613	CCDS41940.1	14	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341307	0.60963	.	.	ENSG00000151413	ENST00000281081;ENST00000536705	T;T	0.38887	1.11;1.11	5.45	4.56	0.56223	.	0.056247	0.64402	D	0.000001	T	0.76083	0.3938	H	0.98487	4.245	0.47308	D	0.999385	D;D	0.67145	0.979;0.996	D;D	0.71414	0.964;0.973	D	0.84504	0.0618	10	0.87932	D	0	-32.3274	12.2039	0.54340	0.0835:0.0:0.9164:0.0	.	109;205	B4DWB0;Q8TB37	.;NUBPL_HUMAN	M	205;109	ENSP00000281081:V205M;ENSP00000439286:V109M	ENSP00000281081:V205M	V	+	1	0	NUBPL	31365591	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	5.185000	0.65076	1.426000	0.47256	0.484000	0.47621	GTG	NUBPL	-	pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom		0.423	NUBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUBPL	HGNC	protein_coding	OTTHUMT00000409519.1	G	NM_025152		32295840	+1	no_errors	ENST00000281081	ensembl	human	known	70_37	missense	SNP	1.000	A
NUGGC	389643	genome.wustl.edu	37	8	27886806	27886806	+	Missense_Mutation	SNP	G	G	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr8:27886806G>T	ENST00000413272.2	-	17	2273	c.2131C>A	c.(2131-2133)Cag>Aag	p.Q711K	NUGGC_ENST00000341513.6_Missense_Mutation_p.Q711K	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	711					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										AACTGGTGCTGCATCCTTTCC	0.577																																																	0													76.0	83.0	81.0					8																	27886806		2027	4192	6219	SO:0001583	missense	389643			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.2131C>A	8.37:g.27886806G>T	ENSP00000408697:p.Gln711Lys		Q6ZP73	Missense_Mutation	SNP	pfam_Dynamin_GTPase	p.Q711K	ENST00000413272.2	37	c.2131	CCDS47833.1	8	.	.	.	.	.	.	.	.	.	.	G	3.119	-0.180945	0.06380	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.13089	2.62;2.62	5.56	3.54	0.40534	.	0.530450	0.19061	N	0.123762	T	0.05960	0.0155	N	0.14661	0.345	0.25844	N	0.984021	B	0.06786	0.001	B	0.04013	0.001	T	0.40627	-0.9553	10	0.02654	T	1	-4.7943	7.1422	0.25562	0.0992:0.0:0.7191:0.1817	.	711	Q68CJ6	SLIP_HUMAN	K	711	ENSP00000408697:Q711K;ENSP00000345031:Q711K	ENSP00000345031:Q711K	Q	-	1	0	C8orf80	27942725	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.087000	0.30865	1.313000	0.45069	0.655000	0.94253	CAG	NUGGC	-	NULL		0.577	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUGGC	HGNC	protein_coding	OTTHUMT00000342494.1	G	NM_001010906		27886806	-1	no_errors	ENST00000341513	ensembl	human	known	70_37	missense	SNP	1.000	T
NUMA1	4926	genome.wustl.edu	37	11	71719762	71719762	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:71719762C>T	ENST00000393695.3	-	20	5519	c.5188G>A	c.(5188-5190)Gag>Aag	p.E1730K	NUMA1_ENST00000351960.6_Missense_Mutation_p.E594K|NUMA1_ENST00000358965.6_Missense_Mutation_p.E1716K	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GTCCCCTCCTCGCAGCTCAGA	0.552			T	RARA	APL																																			Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0													70.0	68.0	69.0					11																	71719762		2200	4293	6493	SO:0001583	missense	4926			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.5188G>A	11.37:g.71719762C>T	ENSP00000377298:p.Glu1730Lys			Missense_Mutation	SNP	superfamily_Prefoldin	p.E1730K	ENST00000393695.3	37	c.5188	CCDS31633.1	11	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890889	0.72524	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	T;T;T	0.20332	2.08;2.54;2.55	4.74	4.74	0.60224	.	0.000000	0.53938	D	0.000048	T	0.27384	0.0672	N	0.24115	0.695	0.32871	D	0.509263	D;D;D;D;D	0.71674	0.998;0.995;0.977;0.998;0.992	P;D;P;P;P	0.70716	0.811;0.97;0.519;0.811;0.654	T	0.10314	-1.0635	10	0.23302	T	0.38	.	11.1594	0.48507	0.0:0.9106:0.0:0.0894	.	1736;1200;1716;1730;594	Q4LE64;Q59HB8;Q14980-2;Q14980;Q9BTE9	.;.;.;NUMA1_HUMAN;.	K	594;1716;1730;1279;685	ENSP00000260051:E594K;ENSP00000351851:E1716K;ENSP00000377298:E1730K	ENSP00000260051:E594K	E	-	1	0	NUMA1	71397410	0.991000	0.36638	0.983000	0.44433	0.997000	0.91878	3.518000	0.53451	2.618000	0.88619	0.561000	0.74099	GAG	NUMA1	-	NULL		0.552	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMA1	HGNC	protein_coding	OTTHUMT00000395769.1	C			71719762	-1	no_errors	ENST00000393695	ensembl	human	known	70_37	missense	SNP	0.923	T
NUP205	23165	genome.wustl.edu	37	7	135262642	135262642	+	Silent	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:135262642C>T	ENST00000285968.6	+	6	773	c.747C>T	c.(745-747)ctC>ctT	p.L249L	NUP205_ENST00000440390.2_Silent_p.L43L	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	249					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)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CTCTCCTCCTCATTGGACATT	0.458																																																	0													118.0	105.0	110.0					7																	135262642		2203	4300	6503	SO:0001819	synonymous_variant	23165			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.747C>T	7.37:g.135262642C>T			A6H8X3|Q86YC1	Silent	SNP	pfam_DUF3414	p.L249	ENST00000285968.6	37	c.747	CCDS34759.1	7																																																																																			NUP205	-	pfam_DUF3414		0.458	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP205	HGNC	protein_coding	OTTHUMT00000340358.1	C			135262642	+1	no_errors	ENST00000285968	ensembl	human	known	70_37	silent	SNP	0.416	T
NUP205	23165	genome.wustl.edu	37	7	135286123	135286123	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:135286123G>A	ENST00000285968.6	+	17	2406	c.2380G>A	c.(2380-2382)Gaa>Aaa	p.E794K		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	794					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)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TTTAGGAGAAGAAATCATAGC	0.363																																																	0													180.0	175.0	177.0					7																	135286123		2203	4300	6503	SO:0001583	missense	23165			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.2380G>A	7.37:g.135286123G>A	ENSP00000285968:p.Glu794Lys		A6H8X3|Q86YC1	Missense_Mutation	SNP	pfam_DUF3414	p.E794K	ENST00000285968.6	37	c.2380	CCDS34759.1	7	.	.	.	.	.	.	.	.	.	.	G	14.46	2.540920	0.45280	.	.	ENSG00000155561	ENST00000285968	T	0.30714	1.52	5.8	5.8	0.92144	.	0.046289	0.85682	D	0.000000	T	0.25827	0.0629	L	0.36672	1.1	0.80722	D	1	B	0.30146	0.27	B	0.28385	0.089	T	0.06698	-1.0812	10	0.07325	T	0.83	-21.5952	20.0544	0.97645	0.0:0.0:1.0:0.0	.	794	Q92621	NU205_HUMAN	K	794	ENSP00000285968:E794K	ENSP00000285968:E794K	E	+	1	0	NUP205	134936663	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.966000	0.76073	2.746000	0.94184	0.591000	0.81541	GAA	NUP205	-	pfam_DUF3414		0.363	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP205	HGNC	protein_coding	OTTHUMT00000340358.1	G			135286123	+1	no_errors	ENST00000285968	ensembl	human	known	70_37	missense	SNP	1.000	A
ODF4	146852	genome.wustl.edu	37	17	8249090	8249090	+	Missense_Mutation	SNP	C	C	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:8249090C>A	ENST00000328248.2	+	3	882	c.694C>A	c.(694-696)Cca>Aca	p.P232T	ODF4_ENST00000584943.1_Missense_Mutation_p.P117T	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	232					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|outer dense fiber (GO:0001520)				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						AGAAGAATCTCCAAGGGCACA	0.517																																																	0													98.0	96.0	96.0					17																	8249090		2203	4300	6503	SO:0001583	missense	146852			AB081120	CCDS11140.1	17p13	2010-09-27			ENSG00000184650	ENSG00000184650			19056	protein-coding gene	gene with protein product	"""cancer/testis antigen 136"""	610097					Standard	NM_153007		Approved	OPPO1, CT136	uc002gle.1	Q2M2E3	OTTHUMG00000108190	ENST00000328248.2:c.694C>A	17.37:g.8249090C>A	ENSP00000331086:p.Pro232Thr		Q8J021	Missense_Mutation	SNP	NULL	p.P232T	ENST00000328248.2	37	c.694	CCDS11140.1	17	.	.	.	.	.	.	.	.	.	.	C	5.628	0.300526	0.10678	.	.	ENSG00000184650	ENST00000328248	T	0.23950	1.88	3.68	1.6	0.23607	.	3.291720	0.01052	N	0.004485	T	0.16896	0.0406	N	0.14661	0.345	0.09310	N	1	P	0.38020	0.615	B	0.32864	0.154	T	0.30090	-0.9990	10	0.35671	T	0.21	1.1064	9.8084	0.40808	0.0:0.5885:0.4115:0.0	.	232	Q2M2E3	ODFP4_HUMAN	T	232	ENSP00000331086:P232T	ENSP00000331086:P232T	P	+	1	0	ODF4	8189815	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.550000	0.06034	0.512000	0.28257	0.563000	0.77884	CCA	ODF4	-	NULL		0.517	ODF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODF4	HGNC	protein_coding	OTTHUMT00000226996.1	C			8249090	+1	no_errors	ENST00000328248	ensembl	human	known	70_37	missense	SNP	0.000	A
OLIG2	10215	genome.wustl.edu	37	21	34399339	34399339	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr21:34399339G>A	ENST00000333337.3	+	1	1097	c.169G>A	c.(169-171)Ggc>Agc	p.G57S	AP000282.2_ENST00000420356.1_RNA|OLIG2_ENST00000382357.3_Missense_Mutation_p.G57S|AP000282.2_ENST00000454622.1_RNA			Q13516	OLIG2_HUMAN	oligodendrocyte lineage transcription factor 2	57					myelination (GO:0042552)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|positive regulation of oligodendrocyte differentiation (GO:0048714)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|thalamus development (GO:0021794)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|central_nervous_system(2)	3						CGAGCTGCGCGGCGCTATGGG	0.701			T	TRA@	T-ALL																																			Dom	yes		21	21q22.11	10215	oligodendrocyte lineage transcription factor 2 (BHLHB1)		L	0													14.0	18.0	17.0					21																	34399339		2190	4290	6480	SO:0001583	missense	10215			U48250	CCDS13620.1	21q22.11	2013-05-21	2001-12-04	2001-12-07	ENSG00000205927	ENSG00000205927		"""Basic helix-loop-helix proteins"""	9398	protein-coding gene	gene with protein product	"""oligodendrocyte-specific bHLH transcription factor 2"", ""protein kinase C binding protein 2"", ""human protein kinase C-binding protein RACK17"", ""basic domain, helix-loop-helix protein, class B, 1"""	606386	"""protein kinase C binding protein 2"""	PRKCBP2, BHLHB1		11526205	Standard	NM_005806		Approved	RACK17, OLIGO2, bHLHe19	uc002yqx.2	Q13516	OTTHUMG00000065032	ENST00000333337.3:c.169G>A	21.37:g.34399339G>A	ENSP00000331040:p.Gly57Ser		B3KRF3|Q05BP9|Q49AL3|Q86X04|Q9NZ14	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.G57S	ENST00000333337.3	37	c.169	CCDS13620.1	21	.	.	.	.	.	.	.	.	.	.	G	0.859	-0.735959	0.03111	.	.	ENSG00000205927	ENST00000382357;ENST00000333337;ENST00000430860	D;D;D	0.88586	-2.4;-2.4;-2.4	3.63	-0.902	0.10537	.	1.519180	0.04524	N	0.385180	T	0.69079	0.3071	N	0.03608	-0.345	0.09310	N	0.999999	P	0.35011	0.48	B	0.26094	0.066	T	0.63296	-0.6669	10	0.07482	T	0.82	.	6.5832	0.22607	0.3551:0.1308:0.5141:0.0	.	57	Q13516	OLIG2_HUMAN	S	57	ENSP00000371794:G57S;ENSP00000331040:G57S;ENSP00000391183:G57S	ENSP00000331040:G57S	G	+	1	0	OLIG2	33321209	0.000000	0.05858	0.288000	0.24862	0.062000	0.15995	0.367000	0.20382	-0.345000	0.08325	-2.069000	0.00389	GGC	OLIG2	-	NULL		0.701	OLIG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OLIG2	HGNC	protein_coding	OTTHUMT00000139663.1	G	NM_005806		34399339	+1	no_errors	ENST00000333337	ensembl	human	known	70_37	missense	SNP	0.035	A
OR4E2	26686	genome.wustl.edu	37	14	22134061	22134061	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr14:22134061C>G	ENST00000408935.1	+	1	765	c.765C>G	c.(763-765)atC>atG	p.I255M		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GGCCATGTATCTTCATCTATA	0.512																																																	0													83.0	81.0	82.0					14																	22134061		1951	4141	6092	SO:0001583	missense	26686				CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"""GPCR / Class A : Olfactory receptors"""	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.765C>G	14.37:g.22134061C>G	ENSP00000386195:p.Ile255Met		Q6IET6|Q96R62	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I255M	ENST00000408935.1	37	c.765	CCDS41916.1	14	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120265	0.56613	.	.	ENSG00000221977	ENST00000408935	T	0.40756	1.02	5.68	0.0436	0.14222	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38548	U	0.001645	T	0.42810	0.1219	L	0.47078	1.49	0.30082	N	0.809096	D	0.56287	0.975	P	0.57620	0.824	T	0.40831	-0.9542	10	0.72032	D	0.01	.	3.7183	0.08446	0.172:0.3607:0.0:0.4673	.	255	Q8NGC2	OR4E2_HUMAN	M	255	ENSP00000386195:I255M	ENSP00000386195:I255M	I	+	3	3	OR4E2	21203901	0.000000	0.05858	0.995000	0.50966	0.986000	0.74619	-0.824000	0.04438	0.127000	0.18452	0.655000	0.94253	ATC	OR4E2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.512	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4E2	HGNC	protein_coding	OTTHUMT00000401874.1	C			22134061	+1	no_errors	ENST00000408935	ensembl	human	known	70_37	missense	SNP	0.987	G
OR6W1P	89883	genome.wustl.edu	37	7	142760157	142760157	+	RNA	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:142760157G>A	ENST00000496192.1	-	0	369					NR_002140.1				olfactory receptor, family 6, subfamily W, member 1 pseudogene											central_nervous_system(1)|endometrium(2)|lung(1)|skin(1)	5						GGGGGTGGCAGATGGCCACGT	0.552																																																	0																																												89883			AF286696		7q34	2014-03-20		2004-03-10	ENSG00000179420	ENSG00000179420		"""GPCR / Class A : Olfactory receptors"""	15091	pseudogene	pseudogene				OR6W1			Standard	NR_002140		Approved	sdolf	uc003wce.1		OTTHUMG00000158389		7.37:g.142760157G>A				RNA	SNP	-	NULL	ENST00000496192.1	37	NULL		7																																																																																			OR6W1P	-	-		0.552	OR6W1P-002	KNOWN	basic	processed_transcript	OR6W1P	HGNC	pseudogene	OTTHUMT00000350947.1	G			142760157	-1	no_errors	ENST00000496192	ensembl	human	known	70_37	rna	SNP	1.000	A
ORC1	4998	genome.wustl.edu	37	1	52859356	52859356	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:52859356C>G	ENST00000371568.3	-	6	1059	c.841G>C	c.(841-843)Gat>Cat	p.D281H	ORC1_ENST00000371566.1_Missense_Mutation_p.D281H	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	281					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGAAGTTTATCAGGCTGAGAT	0.478																																																	0													102.0	100.0	101.0					1																	52859356		2203	4300	6503	SO:0001583	missense	4998				CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.841G>C	1.37:g.52859356C>G	ENSP00000360623:p.Asp281His		D3DQ34|Q13471|Q5T0F5	Missense_Mutation	SNP	pfam_BAH_dom,pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,pfam_DUF2075,smart_BAH_dom,smart_AAA+_ATPase,pfscan_BAH_dom	p.D281H	ENST00000371568.3	37	c.841	CCDS566.1	1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.633015	0.47049	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	T;T	0.51071	0.72;0.72	5.24	3.33	0.38152	.	0.679182	0.16210	N	0.224517	T	0.52451	0.1735	L	0.57536	1.79	0.09310	N	1	P;P	0.51791	0.948;0.948	P;B	0.50791	0.65;0.395	T	0.41538	-0.9503	10	0.37606	T	0.19	-1.3876	12.0968	0.53758	0.0:0.6704:0.3296:0.0	.	281;281	B7Z8H0;Q13415	.;ORC1_HUMAN	H	281	ENSP00000360623:D281H;ENSP00000360621:D281H	ENSP00000360621:D281H	D	-	1	0	ORC1	52631944	0.002000	0.14202	0.008000	0.14137	0.880000	0.50808	0.316000	0.19469	0.738000	0.32606	0.655000	0.94253	GAT	ORC1	-	NULL		0.478	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC1	HGNC	protein_coding	OTTHUMT00000022202.1	C	NM_004153		52859356	-1	no_errors	ENST00000371566	ensembl	human	known	70_37	missense	SNP	0.017	G
P2RX1	5023	genome.wustl.edu	37	17	3806895	3806895	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:3806895G>A	ENST00000225538.3	-	6	829	c.555C>T	c.(553-555)ttC>ttT	p.F185F		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	185					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ceramide biosynthetic process (GO:0046513)|insemination (GO:0007320)|ion transport (GO:0006811)|neuronal action potential (GO:0019228)|platelet activation (GO:0030168)|positive regulation of ion transport (GO:0043270)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of vascular smooth muscle contraction (GO:0003056)|response to ATP (GO:0033198)|serotonin secretion by platelet (GO:0002554)|signal transduction (GO:0007165)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|vasoconstriction (GO:0042310)	external side of cell outer membrane (GO:0031240)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		TGAAAAGAGTGAAGTTCTCGG	0.617																																																	0													83.0	84.0	84.0					17																	3806895		2203	4300	6503	SO:0001819	synonymous_variant	5023			X83688	CCDS11040.1	17p13.3	2012-01-17				ENSG00000108405		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8533	protein-coding gene	gene with protein product		600845				8834001	Standard	NM_002558		Approved	P2X1	uc002fww.3	P51575		ENST00000225538.3:c.555C>T	17.37:g.3806895G>A			Q9UK84	Silent	SNP	pfam_P2X_purnocptor,prints_P2X1_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.F185	ENST00000225538.3	37	c.555	CCDS11040.1	17																																																																																			P2RX1	-	pfam_P2X_purnocptor,tigrfam_P2X_purnocptor		0.617	P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RX1	HGNC	protein_coding	OTTHUMT00000438391.1	G	NM_002558		3806895	-1	no_errors	ENST00000225538	ensembl	human	known	70_37	silent	SNP	1.000	A
AKAP2	11217	genome.wustl.edu	37	9	112899137	112899137	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr9:112899137G>C	ENST00000259318.7	+	2	827	c.620G>C	c.(619-621)aGa>aCa	p.R207T	AKAP2_ENST00000434623.2_Missense_Mutation_p.R296T|AKAP2_ENST00000374525.1_Missense_Mutation_p.R296T|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.R438T|AKAP2_ENST00000555236.1_Missense_Mutation_p.R438T|AKAP2_ENST00000510514.5_Missense_Mutation_p.R438T|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.R438T	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	207										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						TACTGCATTAGAAAAGTGAGG	0.502																																																	0													64.0	66.0	66.0					9																	112899137		2203	4300	6503	SO:0001583	missense	445815			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.620G>C	9.37:g.112899137G>C	ENSP00000259318:p.Arg207Thr		B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	pfam_Paralemmin,pfam_RII_binding_1	p.R438T	ENST00000259318.7	37	c.1313	CCDS48003.1	9	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330954	0.24167	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78	6.17	5.27	0.74061	.	0.106984	0.64402	D	0.000020	T	0.61400	0.2344	L	0.54323	1.7	0.09310	N	0.999994	B;D;D;D;D;P;P;B	0.69078	0.184;0.997;0.985;0.997;0.995;0.639;0.639;0.264	B;D;P;D;P;B;B;B	0.63703	0.068;0.917;0.643;0.917;0.829;0.106;0.106;0.049	T	0.54649	-0.8262	10	0.51188	T	0.08	-24.4013	15.1071	0.72329	0.0684:0.0:0.9316:0.0	.	207;296;290;296;297;438;438;256	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	T	438;438;438;438;296;296;256;207	ENSP00000363654:R438T;ENSP00000305861:R438T;ENSP00000451476:R438T;ENSP00000421522:R438T;ENSP00000404782:R296T;ENSP00000363649:R296T;ENSP00000419268:R256T;ENSP00000259318:R207T	ENSP00000259318:R207T	R	+	2	0	PALM2-AKAP2;AKAP2	111938958	0.371000	0.25056	0.062000	0.19696	0.008000	0.06430	3.532000	0.53553	2.941000	0.99782	0.655000	0.94253	AGA	PALM2-AKAP2	-	NULL		0.502	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PALM2-AKAP2	HGNC	protein_coding	OTTHUMT00000346067.3	G	NM_001004065		112899137	+1	no_errors	ENST00000374530	ensembl	human	known	70_37	missense	SNP	0.132	C
ACP7	390928	genome.wustl.edu	37	19	39575922	39575922	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:39575922C>T	ENST00000331256.5	+	2	287	c.13C>T	c.(13-15)Cct>Tct	p.P5S	PAPL_ENST00000594229.1_Missense_Mutation_p.P5S	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		5						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)										GCACCCCCTTCCTGGCTACTG	0.627																																																	0													226.0	188.0	201.0					19																	39575922		2203	4300	6503	SO:0001583	missense	390928																														ENST00000331256.5:c.13C>T	19.37:g.39575922C>T	ENSP00000327557:p.Pro5Ser		B2RN68	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,superfamily_Purple_acid_Pase-like_N	p.P5S	ENST00000331256.5	37	c.13	CCDS33018.1	19	.	.	.	.	.	.	.	.	.	.	C	3.942	-0.013971	0.07681	.	.	ENSG00000183760	ENST00000331256	.	.	.	4.2	-3.42	0.04825	.	2.507320	0.01166	N	0.006757	T	0.24122	0.0584	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11916	-1.0568	9	0.30854	T	0.27	3.4071	5.1579	0.15044	0.0:0.3094:0.1616:0.529	.	5	Q6ZNF0	PAPL_HUMAN	S	5	.	ENSP00000327557:P5S	P	+	1	0	AC011443.1	44267762	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.803000	0.04540	-0.377000	0.07930	0.563000	0.77884	CCT	PAPL	-	NULL		0.627	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPL	Uniprot_genename	protein_coding	OTTHUMT00000463810.1	C			39575922	+1	no_errors	ENST00000331256	ensembl	human	known	70_37	missense	SNP	0.000	T
PCMTD2	55251	genome.wustl.edu	37	20	62904609	62904609	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr20:62904609C>T	ENST00000308824.6	+	6	869	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	PCMTD2_ENST00000369758.4_Missense_Mutation_p.R221C|PCMTD2_ENST00000266078.7_3'UTR|PCMTD2_ENST00000609372.1_Missense_Mutation_p.R98C|PCMTD2_ENST00000299468.7_Intron	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	248						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.R248C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGACTTGGCTCGCATCGCCAT	0.512																																																	1	Substitution - Missense(1)	endometrium(1)											49.0	53.0	52.0					20																	62904609		2203	4300	6503	SO:0001583	missense	55251			AK001745	CCDS13559.1, CCDS46631.1	20q13.33	2012-10-02	2005-10-06	2005-10-06	ENSG00000203880	ENSG00000203880			15882	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 36"""	C20orf36			Standard	NM_018257		Approved	FLJ10883	uc002yil.4	Q9NV79	OTTHUMG00000033029	ENST00000308824.6:c.742C>T	20.37:g.62904609C>T	ENSP00000307854:p.Arg248Cys		E1P5H3|Q8IW60|Q9H4K2	Missense_Mutation	SNP	pfam_PCMT	p.R248C	ENST00000308824.6	37	c.742	CCDS13559.1	20	.	.	.	.	.	.	.	.	.	.	.	25.6	4.655347	0.88056	.	.	ENSG00000203880	ENST00000369758;ENST00000308824;ENST00000266078	T;T;T	0.72394	-0.65;1.01;-0.47	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.84710	0.5532	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	D	0.86220	0.1630	10	0.87932	D	0	-22.3297	19.2064	0.93732	0.0:1.0:0.0:0.0	.	221;248	Q9NV79-2;Q9NV79	.;PCMD2_HUMAN	C	221;248;24	ENSP00000358773:R221C;ENSP00000307854:R248C;ENSP00000266078:R24C	ENSP00000266078:R24C	R	+	1	0	PCMTD2	62375053	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	4.088000	0.57678	2.523000	0.85059	0.655000	0.94253	CGC	PCMTD2	-	NULL		0.512	PCMTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCMTD2	HGNC	protein_coding	OTTHUMT00000080301.1	C	NM_018257		62904609	+1	no_errors	ENST00000308824	ensembl	human	known	70_37	missense	SNP	1.000	T
PDCD6IP	10015	genome.wustl.edu	37	3	33855109	33855109	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:33855109C>G	ENST00000307296.3	+	3	700	c.323C>G	c.(322-324)tCt>tGt	p.S108C	PDCD6IP_ENST00000498147.1_3'UTR|PDCD6IP_ENST00000457054.2_Missense_Mutation_p.S108C			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	108	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TTTGGAGGCTCTGTAAAACTG	0.318																																																	0													137.0	143.0	141.0					3																	33855109		2203	4300	6503	SO:0001583	missense	10015			BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.323C>G	3.37:g.33855109C>G	ENSP00000307387:p.Ser108Cys		C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	pfam_BRO1_dom,pfscan_BRO1_dom	p.S108C	ENST00000307296.3	37	c.323	CCDS2660.1	3	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902742	0.92035	.	.	ENSG00000170248	ENST00000307296;ENST00000457054	T;T	0.13778	2.56;2.58	5.41	5.41	0.78517	BRO1 domain (3);	0.000000	0.85682	D	0.000000	T	0.37865	0.1019	M	0.74881	2.28	0.80722	D	1	D;P;D	0.67145	0.978;0.84;0.996	P;B;P	0.62184	0.549;0.425;0.899	T	0.16012	-1.0417	10	0.72032	D	0.01	-5.8159	19.1809	0.93623	0.0:1.0:0.0:0.0	.	108;108;108	C5MQH7;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	C	108	ENSP00000307387:S108C;ENSP00000411825:S108C	ENSP00000307387:S108C	S	+	2	0	PDCD6IP	33830113	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.382000	0.79729	2.534000	0.85438	0.563000	0.77884	TCT	PDCD6IP	-	pfam_BRO1_dom,pfscan_BRO1_dom		0.318	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDCD6IP	HGNC	protein_coding	OTTHUMT00000253251.2	C			33855109	+1	no_errors	ENST00000457054	ensembl	human	known	70_37	missense	SNP	1.000	G
PDS5B	23047	genome.wustl.edu	37	13	33232590	33232590	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr13:33232590C>T	ENST00000315596.10	+	5	605	c.419C>T	c.(418-420)tCa>tTa	p.S140L		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	140					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TGGGTCAAGTCATATAACATA	0.244																																																	0													38.0	35.0	36.0					13																	33232590		1791	4048	5839	SO:0001583	missense	23047			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.419C>T	13.37:g.33232590C>T	ENSP00000313851:p.Ser140Leu		Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S140L	ENST00000315596.10	37	c.419	CCDS41878.1	13	.	.	.	.	.	.	.	.	.	.	C	33	5.229692	0.95173	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78220	0.4249	M	0.77313	2.365	0.80722	D	1	D;P	0.56521	0.976;0.906	P;P	0.60541	0.876;0.641	T	0.75476	-0.3304	9	0.33141	T	0.24	-16.381	19.8199	0.96589	0.0:1.0:0.0:0.0	.	140;140	Q9NTI5;Q9NTI5-3	PDS5B_HUMAN;.	L	140	.	ENSP00000313851:S140L	S	+	2	0	PDS5B	32130590	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.688000	0.84153	2.677000	0.91161	0.655000	0.94253	TCA	PDS5B	-	superfamily_ARM-type_fold		0.244	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5B	HGNC	protein_coding	OTTHUMT00000044428.3	C	NM_015032		33232590	+1	no_errors	ENST00000315596	ensembl	human	known	70_37	missense	SNP	1.000	T
PEG3	5178	genome.wustl.edu	37	19	57328738	57328738	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:57328738C>T	ENST00000326441.9	-	10	1435	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E358K|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E234K|PEG3_ENST00000593695.1_Missense_Mutation_p.E232K|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	358					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ATCACTGACTCCCTCTTGTTC	0.453																																																	0													81.0	76.0	78.0					19																	57328738		2203	4300	6503	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1072G>A	19.37:g.57328738C>T	ENSP00000326581:p.Glu358Lys		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E358K	ENST00000326441.9	37	c.1072	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	C	19.22	3.786496	0.70337	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02258	4.37;4.37	4.25	4.25	0.50352	.	0.296035	0.24301	N	0.039739	T	0.03564	0.0102	L	0.36672	1.1	.	.	.	B;B;D	0.67145	0.123;0.131;0.996	B;B;P	0.55923	0.034;0.023;0.787	T	0.34329	-0.9833	9	0.08179	T	0.78	-17.4999	8.2399	0.31654	0.0:0.8955:0.0:0.1045	.	234;358;293	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	K	358;358;328	ENSP00000326581:E358K;ENSP00000403051:E358K	ENSP00000292074:E328K	E	-	1	0	ZIM2	62020550	0.009000	0.17119	0.893000	0.35052	0.945000	0.59286	0.528000	0.23002	2.658000	0.90341	0.655000	0.94253	GAG	PEG3	-	NULL		0.453	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	C			57328738	-1	no_errors	ENST00000326441	ensembl	human	known	70_37	missense	SNP	0.886	T
PHF8	23133	genome.wustl.edu	37	X	54048782	54048782	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:54048782G>A	ENST00000357988.5	-	4	669	c.311C>T	c.(310-312)tCt>tTt	p.S104F	PHF8_ENST00000338154.6_Missense_Mutation_p.S68F|PHF8_ENST00000338946.6_Missense_Mutation_p.S68F|PHF8_ENST00000322659.8_Missense_Mutation_p.S68F	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	104	Linker.				brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CCCCTTTGAAGATCCACGGCG	0.493																																																	0													134.0	116.0	122.0					X																	54048782		2203	4300	6503	SO:0001583	missense	23133			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.311C>T	X.37:g.54048782G>A	ENSP00000350676:p.Ser104Phe		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.S104F	ENST00000357988.5	37	c.311	CCDS55420.1	X	.	.	.	.	.	.	.	.	.	.	G	7.789	0.711138	0.15239	.	.	ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659;ENST00000425862;ENST00000437224;ENST00000415025;ENST00000453905;ENST00000445025;ENST00000433120	T;T;T;T;T;T;T;T;T;T	0.25085	2.42;2.16;2.17;1.82;2.19;2.19;2.21;2.16;2.21;2.21	5.51	5.51	0.81932	Zinc finger, FYVE/PHD-type (1);	1.122020	0.06478	N	0.732321	T	0.21801	0.0525	L	0.36672	1.1	0.33436	D	0.581728	P;B	0.37158	0.585;0.078	B;B	0.29942	0.109;0.013	T	0.14755	-1.0461	10	0.10111	T	0.7	-1.4699	15.8122	0.78573	0.0:0.0:1.0:0.0	.	68;104	B7Z911;Q9UPP1	.;PHF8_HUMAN	F	104;68;68;98;68;68;68;68;104;68;68	ENSP00000350676:S104F;ENSP00000338868:S68F;ENSP00000340051:S68F;ENSP00000319473:S68F;ENSP00000408113:S68F;ENSP00000398995:S68F;ENSP00000404117:S68F;ENSP00000405897:S104F;ENSP00000416546:S68F;ENSP00000410100:S68F	ENSP00000319473:S68F	S	-	2	0	PHF8	54065507	0.999000	0.42202	1.000000	0.80357	0.923000	0.55619	4.005000	0.57075	2.332000	0.79248	0.596000	0.82720	TCT	PHF8	-	superfamily_Znf_FYVE_PHD		0.493	PHF8-001	KNOWN	basic|CCDS	protein_coding	PHF8	HGNC	protein_coding	OTTHUMT00000056784.2	G	NM_015107		54048782	-1	no_errors	ENST00000357988	ensembl	human	known	70_37	missense	SNP	0.989	A
PIGU	128869	genome.wustl.edu	37	20	33173287	33173287	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr20:33173287G>C	ENST00000374820.2	-	8	840	c.820C>G	c.(820-822)Cag>Gag	p.Q274E	PIGU_ENST00000452740.2_Missense_Mutation_p.Q294E|PIGU_ENST00000480175.1_Intron			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	294	May be involved in recognition of long- chain fatty acids in GPI.				attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|regulation of JAK-STAT cascade (GO:0046425)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						ACGTTGATCTGAAACACACAT	0.463																																																	0													165.0	155.0	158.0					20																	33173287		2203	4300	6503	SO:0001583	missense	128869			AL118520	CCDS13239.1	20q11.22	2013-02-26	2006-11-07	2006-11-07	ENSG00000101464	ENSG00000101464		"""Phosphatidylinositol glycan anchor biosynthesis"""	15791	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	608528	"""CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1"", ""CDC91 cell division cycle 91-like 1 (S. cerevisiae)"""	CDC91L1		12802054, 15034568	Standard	NM_080476		Approved	bA346K17.2, GAB1	uc002xas.3	Q9H490	OTTHUMG00000032304	ENST00000374820.2:c.820C>G	20.37:g.33173287G>C	ENSP00000363953:p.Gln274Glu		Q7Z489|Q8N2F2	Missense_Mutation	SNP	pfam_PIG-U	p.Q294E	ENST00000374820.2	37	c.880		20	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648667	0.87958	.	.	ENSG00000101464	ENST00000217446;ENST00000374820;ENST00000452740	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.83454	0.5258	M	0.85630	2.765	0.80722	D	1	D;P;D	0.59357	0.985;0.954;0.979	D;D;D	0.74023	0.981;0.932;0.982	T	0.82041	-0.0654	9	0.30078	T	0.28	.	19.1221	0.93367	0.0:0.0:1.0:0.0	.	294;274;294	E7EVL4;Q9H490-2;Q9H490	.;.;PIGU_HUMAN	E	294;274;294	.	ENSP00000217446:Q294E	Q	-	1	0	PIGU	32636948	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.294000	0.96088	2.531000	0.85337	0.655000	0.94253	CAG	PIGU	-	pfam_PIG-U		0.463	PIGU-201	KNOWN	basic	protein_coding	PIGU	HGNC	protein_coding		G	NM_080476		33173287	-1	no_errors	ENST00000217446	ensembl	human	known	70_37	missense	SNP	1.000	C
PIK3C2B	5287	genome.wustl.edu	37	1	204403022	204403022	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:204403022C>T	ENST00000367187.3	-	26	4298	c.3742G>A	c.(3742-3744)Gac>Aac	p.D1248N	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.D1220N|RP11-739N20.2_ENST00000443515.1_RNA	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1248	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GAAGGCTTGTCACCCCCGTTG	0.552																																																	0													115.0	100.0	105.0					1																	204403022		2203	4300	6503	SO:0001583	missense	5287			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3742G>A	1.37:g.204403022C>T	ENSP00000356155:p.Asp1248Asn		O95666|Q5SW99	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.D1248N	ENST00000367187.3	37	c.3742	CCDS1446.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.890454	0.97074	.	.	ENSG00000133056	ENST00000367187;ENST00000391949;ENST00000424712	T;T	0.81078	-1.45;-1.45	6.03	6.03	0.97812	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.43919	U	0.000514	D	0.87466	0.6184	L	0.49640	1.575	0.58432	D	0.999996	D;D	0.64830	0.99;0.994	D;D	0.66716	0.923;0.946	D	0.86078	0.1542	10	0.49607	T	0.09	.	20.1519	0.98089	0.0:1.0:0.0:0.0	.	1220;1248	F5GWN5;O00750	.;P3C2B_HUMAN	N	1248;26;1220	ENSP00000356155:D1248N;ENSP00000400561:D1220N	ENSP00000356155:D1248N	D	-	1	0	PIK3C2B	202669645	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.731000	0.84895	2.861000	0.98227	0.655000	0.94253	GAC	PIK3C2B	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.552	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	HGNC	protein_coding	OTTHUMT00000087965.1	C	NM_002646		204403022	-1	no_errors	ENST00000367187	ensembl	human	known	70_37	missense	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56.0	56.0	56.0					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936082	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A
PLCD3	113026	genome.wustl.edu	37	17	43196206	43196206	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:43196206G>A	ENST00000322765.5	-	5	1002	c.889C>T	c.(889-891)Cag>Tag	p.Q297*	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	297					angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						TCATAGGTCTGAATGAGCTGC	0.677																																																	0													17.0	20.0	19.0					17																	43196206		1960	4114	6074	SO:0001587	stop_gained	113026			AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.889C>T	17.37:g.43196206G>A	ENSP00000313731:p.Gln297*		Q8TEC1|Q8TF37|Q96FL6	Nonsense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.Q297*	ENST00000322765.5	37	c.889		17	.	.	.	.	.	.	.	.	.	.	G	35	5.414186	0.96092	.	.	ENSG00000161714	ENST00000322765	.	.	.	3.77	2.78	0.32641	.	0.328198	0.29451	N	0.012107	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	12.458	0.55716	0.0:0.1706:0.8293:0.0	.	.	.	.	X	297	.	ENSP00000313731:Q297X	Q	-	1	0	PLCD3	40551732	1.000000	0.71417	0.964000	0.40570	0.701000	0.40568	4.511000	0.60462	0.896000	0.36366	0.462000	0.41574	CAG	PLCD3	-	pfam_PLipase_C_EF-hand-like		0.677	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	PLCD3	HGNC	protein_coding		G	NM_133373		43196206	-1	no_errors	ENST00000322765	ensembl	human	known	70_37	nonsense	SNP	0.997	A
PLEKHA4	57664	genome.wustl.edu	37	19	49341352	49341352	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:49341352C>T	ENST00000263265.6	-	19	2554	c.1999G>A	c.(1999-2001)Gaa>Aaa	p.E667K	HSD17B14_ENST00000263278.4_5'Flank|HSD17B14_ENST00000599157.1_5'Flank|PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R568Q	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	667						cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CGGTGACCTTCGGAAGTCGGC	0.562																																																	0													70.0	75.0	73.0					19																	49341352		2203	4300	6503	SO:0001583	missense	57664			AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.1999G>A	19.37:g.49341352C>T	ENSP00000263265:p.Glu667Lys		Q8N4M8|Q8N658	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E667K	ENST00000263265.6	37	c.1999	CCDS12737.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	13.88|13.88	2.368329|2.368329	0.42003|0.42003	.|.	.|.	ENSG00000105559|ENSG00000105559	ENST00000263265|ENST00000355496	T|T	0.24350|0.18810	1.86|2.19	3.86|3.86	3.86|3.86	0.44501|0.44501	.|.	1.280490|.	0.05787|.	N|.	0.609639|.	T|T	0.22742|0.22742	0.0549|0.0549	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999996|0.999996	B|D	0.30634|0.64830	0.288|0.994	B|P	0.19946|0.48089	0.027|0.566	T|T	0.06058|0.06058	-1.0848|-1.0848	9|8	0.48119|0.31617	T|T	0.1|0.26	.|.	11.5967|11.5967	0.50977|0.50977	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	667|568	Q9H4M7|Q9H4M7-2	PKHA4_HUMAN|.	K|Q	667|568	ENSP00000263265:E667K|ENSP00000347683:R568Q	ENSP00000263265:E667K|ENSP00000347683:R568Q	E|R	-|-	1|2	0|0	PLEKHA4|PLEKHA4	54033164|54033164	0.390000|0.390000	0.25213|0.25213	0.342000|0.342000	0.25602|0.25602	0.948000|0.948000	0.59901|0.59901	1.241000|1.241000	0.32743|0.32743	2.199000|2.199000	0.70637|0.70637	0.546000|0.546000	0.68486|0.68486	GAA|CGA	PLEKHA4	-	NULL		0.562	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA4	HGNC	protein_coding	OTTHUMT00000466216.1	C			49341352	-1	no_errors	ENST00000263265	ensembl	human	known	70_37	missense	SNP	0.405	T
PLEKHH3	79990	genome.wustl.edu	37	17	40825805	40825805	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:40825805G>A	ENST00000591022.1	-	4	733	c.346C>T	c.(346-348)Ccc>Tcc	p.P116S	PLEKHH3_ENST00000293349.6_Missense_Mutation_p.P116S|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.P116S	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	116	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CGGCGCGGGGGCAGCCAGGGC	0.692																																																	0													5.0	6.0	6.0					17																	40825805		2001	3956	5957	SO:0001583	missense	79990			BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.346C>T	17.37:g.40825805G>A	ENSP00000468678:p.Pro116Ser		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Missense_Mutation	SNP	pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.P116S	ENST00000591022.1	37	c.346	CCDS11434.1	17	.	.	.	.	.	.	.	.	.	.	G	8.431	0.848614	0.17034	.	.	ENSG00000068137	ENST00000293349;ENST00000412503	D;D	0.85861	-1.73;-2.04	4.78	2.81	0.32909	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.282231	0.25601	N	0.029553	T	0.68915	0.3053	N	0.22421	0.69	0.25262	N	0.98958	B;B	0.10296	0.003;0.0	B;B	0.10450	0.005;0.001	T	0.49735	-0.8908	10	0.09084	T	0.74	-12.5372	5.3312	0.15934	0.1731:0.0:0.6651:0.1617	.	116;116	Q7Z736-2;Q7Z736	.;PKHH3_HUMAN	S	116	ENSP00000293349:P116S;ENSP00000411885:P116S	ENSP00000293349:P116S	P	-	1	0	PLEKHH3	38079331	1.000000	0.71417	0.980000	0.43619	0.647000	0.38526	2.956000	0.49129	0.627000	0.30340	-0.229000	0.12294	CCC	PLEKHH3	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.692	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLEKHH3	HGNC	protein_coding	OTTHUMT00000452332.1	G	NM_024927		40825805	-1	no_errors	ENST00000591022	ensembl	human	known	70_37	missense	SNP	0.982	A
PLEKHH3	79990	genome.wustl.edu	37	17	40828531	40828531	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:40828531G>A	ENST00000591022.1	-	1	438	c.51C>T	c.(49-51)ttC>ttT	p.F17F	PLEKHH3_ENST00000293349.6_Silent_p.F17F|PLEKHH3_ENST00000456950.2_5'Flank|PLEKHH3_ENST00000412503.1_Silent_p.F17F	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	17					signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GCAGAAGAGTGAAGCCTCGAC	0.697																																																	0													28.0	26.0	27.0					17																	40828531		2195	4299	6494	SO:0001819	synonymous_variant	79990			BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.51C>T	17.37:g.40828531G>A			C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Silent	SNP	pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.F17	ENST00000591022.1	37	c.51	CCDS11434.1	17																																																																																			PLEKHH3	-	NULL		0.697	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLEKHH3	HGNC	protein_coding	OTTHUMT00000452332.1	G	NM_024927		40828531	-1	no_errors	ENST00000591022	ensembl	human	known	70_37	silent	SNP	1.000	A
PLIN4	729359	genome.wustl.edu	37	19	4513178	4513178	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:4513178G>C	ENST00000301286.3	-	3	751	c.752C>G	c.(751-753)aCa>aGa	p.T251R		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	251	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CTTGGTACCTGTTAGGACAGT	0.557																																																	0													98.0	107.0	104.0					19																	4513178		2055	4179	6234	SO:0001583	missense	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.752C>G	19.37:g.4513178G>C	ENSP00000301286:p.Thr251Arg		A6NEI2	Missense_Mutation	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.T251R	ENST00000301286.3	37	c.752	CCDS45927.1	19	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191528	0.58017	.	.	ENSG00000167676	ENST00000301286	T	0.10668	2.85	4.61	-0.435	0.12279	.	1.343930	0.05221	N	0.508494	T	0.24736	0.0600	M	0.77616	2.38	0.09310	N	1	D	0.71674	0.998	P	0.61722	0.893	T	0.33445	-0.9868	10	0.16896	T	0.51	-4.899	4.6915	0.12783	0.362:0.1532:0.4848:0.0	.	251	Q96Q06	PLIN4_HUMAN	R	251	ENSP00000301286:T251R	ENSP00000301286:T251R	T	-	2	0	PLIN4	4464178	0.004000	0.15560	0.001000	0.08648	0.461000	0.32589	0.386000	0.20702	0.050000	0.15949	0.561000	0.74099	ACA	PLIN4	-	superfamily_Ankyrin_rpt-contain_dom		0.557	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1	G	XM_170901		4513178	-1	no_errors	ENST00000301286	ensembl	human	novel	70_37	missense	SNP	0.000	C
PLK3	1263	genome.wustl.edu	37	1	45270790	45270791	+	Intron	INS	-	-	AAAG	rs34617431|rs199871265|rs200571145|rs370027677	byFrequency	TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:45270790_45270791insAAAG	ENST00000372201.4	+	14	1874				PLK3_ENST00000465443.1_Intron	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3						apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					aaaaaaaaaataaagaaaagaa	0.515														659	0.131589	0.0643	0.1412	5008	,	,		17241	0.1647		0.175	False		,,,				2504	0.137																0																																										SO:0001627	intron_variant	1263			AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1636-147->AAAG	1.37:g.45270791_45270794dupAAAG			Q15767|Q5JR99|Q96CV1	RNA	INS	-	NULL	ENST00000372201.4	37	NULL	CCDS515.1	1																																																																																			PLK3	-	-		0.515	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK3	HGNC	protein_coding	OTTHUMT00000023429.1	-	NM_004073		45270791	+1	no_errors	ENST00000461769	ensembl	human	known	70_37	rna	INS	0.005:0.008	AAAG
PLXNB3	5365	genome.wustl.edu	37	X	153032607	153032607	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:153032607C>T	ENST00000361971.5	+	3	439	c.325C>T	c.(325-327)Cag>Tag	p.Q109*	PLXNB3_ENST00000538282.1_Intron|U52111.14_ENST00000434284.1_RNA|PLXNB3_ENST00000538966.1_Nonsense_Mutation_p.Q132*|PLXNB3_ENST00000538543.1_Intron|U52111.14_ENST00000416854.1_RNA|PLXNB3_ENST00000538776.1_Intron	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	109	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CGAGTGCCCACAGGCCCAGCT	0.687																																																	0													21.0	18.0	19.0					X																	153032607		2199	4294	6493	SO:0001587	stop_gained	5365			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.325C>T	X.37:g.153032607C>T	ENSP00000355378:p.Gln109*		B7Z3E6|F5H773|Q9HDA4	Nonsense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.Q132*	ENST00000361971.5	37	c.394	CCDS14729.1	X	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008690	0.93346	.	.	ENSG00000198753	ENST00000538966;ENST00000361971	.	.	.	4.79	4.79	0.61399	.	0.156649	0.42053	D	0.000767	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	15.7471	0.77955	0.0:1.0:0.0:0.0	.	.	.	.	X	132;109	.	ENSP00000355378:Q109X	Q	+	1	0	PLXNB3	152685801	0.991000	0.36638	0.962000	0.40283	0.021000	0.10359	2.921000	0.48852	1.961000	0.56991	0.468000	0.43344	CAG	PLXNB3	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.687	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLXNB3	HGNC	protein_coding	OTTHUMT00000061063.1	C			153032607	+1	no_errors	ENST00000538966	ensembl	human	known	70_37	nonsense	SNP	0.903	T
PML	5371	genome.wustl.edu	37	15	74315241	74315241	+	Silent	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:74315241C>G	ENST00000268058.3	+	3	771	c.675C>G	c.(673-675)ctC>ctG	p.L225L	PML_ENST00000435786.2_Silent_p.L225L|PML_ENST00000565898.1_Silent_p.L225L|PML_ENST00000395135.3_Silent_p.L225L|PML_ENST00000563500.1_Silent_p.L225L|PML_ENST00000564428.1_Silent_p.L225L|PML_ENST00000268059.6_Silent_p.L225L|PML_ENST00000359928.4_Silent_p.L225L|PML_ENST00000395132.2_Silent_p.L225L|PML_ENST00000354026.6_Silent_p.L225L|PML_ENST00000567543.1_Silent_p.L225L|PML_ENST00000569965.1_Silent_p.L225L|PML_ENST00000436891.3_Silent_p.L225L|PML_ENST00000569477.1_Silent_p.L225L	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	225					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						ACAGTGAGCTCAAGTGCGACA	0.617			T	"""RARA, PAX5"""	"""APL, ALL"""																																			Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0													40.0	36.0	37.0					15																	74315241		2198	4297	6495	SO:0001819	synonymous_variant	5371			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.675C>G	15.37:g.74315241C>G			E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Silent	SNP	pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.L225	ENST00000268058.3	37	c.675	CCDS10255.1	15																																																																																			PML	-	NULL		0.617	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PML	HGNC	protein_coding	OTTHUMT00000269021.3	C	NM_002675		74315241	+1	no_errors	ENST00000268058	ensembl	human	known	70_37	silent	SNP	0.026	G
PNKP	11284	genome.wustl.edu	37	19	50365825	50365825	+	Silent	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:50365825C>T	ENST00000322344.3	-	10	1015	c.906G>A	c.(904-906)aaG>aaA	p.K302K	AC018766.4_ENST00000596624.1_RNA|PNKP_ENST00000600573.1_Silent_p.K302K|PNKP_ENST00000596014.1_Silent_p.K302K|PNKP_ENST00000600910.1_Silent_p.K302K	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	302	Phosphatase. {ECO:0000250}.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		AGTCTTTCTTCTTCCGCCCCG	0.711								Other BER factors																																									0													16.0	20.0	19.0					19																	50365825		2198	4291	6489	SO:0001819	synonymous_variant	11284			AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.906G>A	19.37:g.50365825C>T			Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Silent	SNP	pfam_PNK3P,superfamily_HAD-like_dom,superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA	p.K302	ENST00000322344.3	37	c.906	CCDS12783.1	19																																																																																			PNKP	-	pfam_PNK3P,superfamily_HAD-like_dom,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA		0.711	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNKP	HGNC	protein_coding	OTTHUMT00000465830.1	C	NM_007254		50365825	-1	no_errors	ENST00000322344	ensembl	human	known	70_37	silent	SNP	1.000	T
PPIH	10465	genome.wustl.edu	37	1	43125213	43125213	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:43125213G>A	ENST00000304979.3	+	4	198	c.176G>A	c.(175-177)gGa>gAa	p.G59E	PPIH_ENST00000455203.2_Missense_Mutation_p.G16E|PPIH_ENST00000372550.1_Missense_Mutation_p.G16E	NM_006347.3	NP_006338.1	O43447	PPIH_HUMAN	peptidylprolyl isomerase H (cyclophilin H)	59	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral genome replication (GO:0045070)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|ribonucleoprotein complex binding (GO:0043021)			endometrium(1)|large_intestine(1)|lung(2)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			L-Proline(DB00172)	GTTCCAATAGGATACAAAGGA	0.453																																					NSCLC(73;23 1942 10718 46854)												0													131.0	132.0	132.0					1																	43125213		2203	4300	6503	SO:0001583	missense	10465			AF016371	CCDS469.1	1p34.1	2012-06-07	2006-01-12		ENSG00000171960	ENSG00000171960			14651	protein-coding gene	gene with protein product	"""USA-CyP SnuCyp-20"", ""cyclophilin H"", ""U-snRNP-associated cyclophilin SunCyp-20"", ""small nuclear ribonucleoprotein particle-specific cyclophilin H"", ""rotamase H"", ""peptidyl-prolyl cis-trans isomerase H"", ""PPIase h"""	606095	"""peptidyl prolyl isomerase H (cyclophilin H)"""			9404889, 9570313	Standard	NM_006347		Approved	USA-CYP, CYP-20, SnuCyp-20, CYPH, MGC5016	uc001chq.3	O43447	OTTHUMG00000007520	ENST00000304979.3:c.176G>A	1.37:g.43125213G>A	ENSP00000306614:p.Gly59Glu		A6NNE7	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.G59E	ENST00000304979.3	37	c.176	CCDS469.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.112958	0.94339	.	.	ENSG00000171960	ENST00000304979;ENST00000372550;ENST00000440068;ENST00000455203;ENST00000436387	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	5.83	5.83	0.93111	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.50051	0.1593	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.49062	-0.8978	10	0.66056	D	0.02	.	17.6198	0.88077	0.0:0.0:1.0:0.0	.	16;59	A6NNE7;O43447	.;PPIH_HUMAN	E	59;16;33;16;29	ENSP00000306614:G59E;ENSP00000361630:G16E;ENSP00000402836:G33E;ENSP00000416361:G16E;ENSP00000405493:G29E	ENSP00000306614:G59E	G	+	2	0	PPIH	42897800	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.246000	0.89828	2.749000	0.94314	0.655000	0.94253	GGA	PPIH	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom		0.453	PPIH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIH	HGNC	protein_coding	OTTHUMT00000019778.1	G	NM_006347		43125213	+1	no_errors	ENST00000304979	ensembl	human	known	70_37	missense	SNP	1.000	A
PPP1CB	5500	genome.wustl.edu	37	2	29001749	29001749	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:29001749C>G	ENST00000395366.2	+	3	531	c.259C>G	c.(259-261)Ctt>Gtt	p.L87V	PPP1CB_ENST00000358506.2_Missense_Mutation_p.L87V|PPP1CB_ENST00000296122.6_Missense_Mutation_p.L87V	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	87					cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|G2/M transition of mitotic cell cycle (GO:0000086)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|myosin phosphatase activity (GO:0017018)|myosin-light-chain-phosphatase activity (GO:0050115)|phosphatase activity (GO:0016791)|protein kinase binding (GO:0019901)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					AGCCAACTATCTTTTCTTAGG	0.343																																																	0													102.0	105.0	104.0					2																	29001749		2203	4300	6503	SO:0001583	missense	5500				CCDS33169.1	2p23	2013-01-18	2010-03-05		ENSG00000213639	ENSG00000213639	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9282	protein-coding gene	gene with protein product		600590	"""protein phosphatase 1, catalytic subunit, beta isoform"""			8312365	Standard	NM_002709		Approved	PP1B, PP-1B, PP1beta	uc002rmg.3	P62140	OTTHUMG00000152011	ENST00000395366.2:c.259C>G	2.37:g.29001749C>G	ENSP00000378769:p.Leu87Val		B2R5V4|D6W565|P37140|Q5U087|Q6FG45	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.L87V	ENST00000395366.2	37	c.259	CCDS33169.1	2	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773071	0.69992	.	.	ENSG00000213639	ENST00000455580;ENST00000420282;ENST00000441461;ENST00000358506;ENST00000296122;ENST00000395366	D;D;D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08;-3.08	5.72	5.72	0.89469	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.057937	0.64402	D	0.000001	D	0.94205	0.8140	M	0.77103	2.36	0.80722	D	1	P;B	0.38551	0.636;0.335	P;B	0.45119	0.47;0.228	D	0.94061	0.7326	10	0.72032	D	0.01	-14.1378	20.2406	0.98372	0.0:1.0:0.0:0.0	.	59;87	B4E163;P62140	.;PP1B_HUMAN	V	59;87;87;87;87;87	ENSP00000390715:L59V;ENSP00000398839:L87V;ENSP00000414918:L87V;ENSP00000351298:L87V;ENSP00000296122:L87V;ENSP00000378769:L87V	ENSP00000296122:L87V	L	+	1	0	PPP1CB	28855253	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.729000	0.84864	2.857000	0.98124	0.650000	0.86243	CTT	PPP1CB	-	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase		0.343	PPP1CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1CB	HGNC	protein_coding	OTTHUMT00000324841.1	C			29001749	+1	no_errors	ENST00000296122	ensembl	human	known	70_37	missense	SNP	1.000	G
PPP1R9A	55607	genome.wustl.edu	37	7	94539853	94539853	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:94539853G>A	ENST00000433881.1	+	2	960	c.428G>A	c.(427-429)cGa>cAa	p.R143Q	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.R143Q|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.R143Q|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.R143Q|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.R143Q|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.R143Q			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	143	Actin-binding.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ACTGAGACTCGAAAGATGTTT	0.438										HNSCC(28;0.073)																																							0													136.0	131.0	132.0					7																	94539853		2203	4300	6503	SO:0001583	missense	55607			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.428G>A	7.37:g.94539853G>A	ENSP00000398870:p.Arg143Gln		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.R143Q	ENST00000433881.1	37	c.428	CCDS34683.1	7	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094233	0.36952	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	D;D;D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25;-3.25;-3.25	5.66	4.78	0.61160	.	0.066710	0.64402	D	0.000004	D	0.96626	0.8899	M	0.83953	2.67	0.45366	D	0.998351	D;D;D;P;P	0.89917	1.0;1.0;1.0;0.774;0.774	P;D;D;B;B	0.85130	0.846;0.997;0.997;0.128;0.074	D	0.96828	0.9609	9	.	.	.	.	14.9142	0.70781	0.0689:0.0:0.9311:0.0	.	143;143;143;143;143	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	Q	143	ENSP00000405514:R143Q;ENSP00000344524:R143Q;ENSP00000411342:R143Q;ENSP00000398870:R143Q;ENSP00000289495:R143Q;ENSP00000402893:R143Q	.	R	+	2	0	PPP1R9A	94377789	1.000000	0.71417	0.998000	0.56505	0.055000	0.15305	9.476000	0.97823	1.546000	0.49388	-0.229000	0.12294	CGA	PPP1R9A	-	NULL		0.438	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	HGNC	protein_coding	OTTHUMT00000340662.1	G	NM_001166160		94539853	+1	no_errors	ENST00000289495	ensembl	human	known	70_37	missense	SNP	1.000	A
PRAMEF1	65121	genome.wustl.edu	37	1	12854277	12854277	+	Silent	SNP	C	C	G	rs150987662	byFrequency	TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:12854277C>G	ENST00000332296.7	+	3	604	c.501C>G	c.(499-501)ctC>ctG	p.L167L	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	167					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGATACCTCTTCCAGTGGG	0.453																																																	0													123.0	125.0	124.0					1																	12854277		2197	4282	6479	SO:0001819	synonymous_variant	65121			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.501C>G	1.37:g.12854277C>G			Q9UQP2	Silent	SNP	NULL	p.L167	ENST00000332296.7	37	c.501	CCDS148.1	1																																																																																			PRAMEF1	-	NULL		0.453	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF1	HGNC	protein_coding	OTTHUMT00000005458.1	C	NM_023013		12854277	+1	no_errors	ENST00000332296	ensembl	human	known	70_37	silent	SNP	0.000	G
PROCR	10544	genome.wustl.edu	37	20	33764059	33764059	+	Silent	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr20:33764059G>C	ENST00000216968.4	+	3	493	c.411G>C	c.(409-411)ggG>ggC	p.G137G	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	137					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|immune response (GO:0006955)|negative regulation of coagulation (GO:0050819)	cell surface (GO:0009986)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	CTGTGAATGGGAGCTCCTTTG	0.597																																																	0													77.0	74.0	75.0					20																	33764059		2203	4300	6503	SO:0001819	synonymous_variant	10544			L35545	CCDS13248.1	20q11.2	2010-05-04	2010-05-04		ENSG00000101000	ENSG00000101000		"""CD molecules"""	9452	protein-coding gene	gene with protein product		600646				7929370, 10518938	Standard	NM_006404		Approved	EPCR, CCD41, CD201	uc002xbt.3	Q9UNN8	OTTHUMG00000032323	ENST00000216968.4:c.411G>C	20.37:g.33764059G>C			B2RC04|Q14218|Q6IB56|Q96CB3|Q9ULX1	Silent	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	p.G137	ENST00000216968.4	37	c.411	CCDS13248.1	20																																																																																			PROCR	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.597	PROCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROCR	HGNC	protein_coding	OTTHUMT00000078843.3	G			33764059	+1	no_errors	ENST00000216968	ensembl	human	known	70_37	silent	SNP	0.998	C
PREX1	57580	genome.wustl.edu	37	20	47258778	47258778	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr20:47258778G>C	ENST00000371941.3	-	29	3725	c.3703C>G	c.(3703-3705)Ctc>Gtc	p.L1235V	PREX1_ENST00000496915.1_5'UTR|PREX1_ENST00000396220.1_Missense_Mutation_p.L1235V	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1235					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCCTTGAGGAGAGCATTGATG	0.592																																																	0													76.0	75.0	75.0					20																	47258778		2203	4300	6503	SO:0001583	missense	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.3703C>G	20.37:g.47258778G>C	ENSP00000361009:p.Leu1235Val		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L1235V	ENST00000371941.3	37	c.3703	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	g	12.90	2.077035	0.36662	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.38401	1.14;1.14	5.4	4.44	0.53790	.	0.155680	0.29444	U	0.012138	T	0.49167	0.1541	L	0.57536	1.79	0.39760	D	0.972017	B;P	0.51057	0.227;0.941	B;P	0.54664	0.139;0.758	T	0.54351	-0.8307	10	0.59425	D	0.04	.	14.091	0.64990	0.0725:0.0:0.9275:0.0	.	1235;532	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	V	1235	ENSP00000361009:L1235V;ENSP00000379522:L1235V	ENSP00000361009:L1235V	L	-	1	0	PREX1	46692185	0.998000	0.40836	0.843000	0.33291	0.309000	0.27889	2.741000	0.47426	1.278000	0.44430	0.639000	0.83563	CTC	PREX1	-	NULL		0.592	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	HGNC	protein_coding	OTTHUMT00000079623.1	G	NM_020820		47258778	-1	no_errors	ENST00000371941	ensembl	human	known	70_37	missense	SNP	0.906	C
PRR13	54458	genome.wustl.edu	37	12	53839824	53839824	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr12:53839824C>T	ENST00000429243.2	+	4	636	c.428C>T	c.(427-429)tCc>tTc	p.S143F	PRR13_ENST00000379786.4_Missense_Mutation_p.S93F|PRR13_ENST00000547368.1_Missense_Mutation_p.S157F|RP11-793H13.8_ENST00000547717.1_RNA|PRR13_ENST00000549924.1_Missense_Mutation_p.S143F|PRR13_ENST00000549581.1_Missense_Mutation_p.S93F|PRR13_ENST00000551003.1_Missense_Mutation_p.S111F|PRR13_ENST00000549135.1_Missense_Mutation_p.S143F|PCBP2_ENST00000541275.1_Intron|PRR13_ENST00000546581.1_Missense_Mutation_p.S47F|PRR13_ENST00000549068.1_3'UTR	NM_001005354.2|NM_018457.3	NP_001005354.1|NP_060927.1	Q9NZ81	PRR13_HUMAN	proline rich 13	143	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(1)|urinary_tract(1)	6						TCCTCCTCTTCCAGCAGTGAT	0.517																																																	0													305.0	288.0	294.0					12																	53839824		2203	4300	6503	SO:0001583	missense	54458			AF217517	CCDS31811.1, CCDS44899.1	12q13.13	2014-05-28			ENSG00000205352	ENSG00000205352			24528	protein-coding gene	gene with protein product		610459				11230166	Standard	NM_018457		Approved	FLJ23818, DKFZP564J157	uc001scz.4	Q9NZ81	OTTHUMG00000170049	ENST00000429243.2:c.428C>T	12.37:g.53839824C>T	ENSP00000412064:p.Ser143Phe		Q0V8U0|Q6FIG7|Q6MZP8|Q6NXQ6|Q6PKF9	Missense_Mutation	SNP	NULL	p.S143F	ENST00000429243.2	37	c.428	CCDS44899.1	12	.	.	.	.	.	.	.	.	.	.	C	13.29	2.191690	0.38707	.	.	ENSG00000205352	ENST00000429243;ENST00000549924;ENST00000551003;ENST00000546581;ENST00000549581;ENST00000547368;ENST00000379786;ENST00000549135	.	.	.	4.46	4.46	0.54185	.	0.000000	0.35677	N	0.003060	T	0.78400	0.4277	M	0.80982	2.52	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.80148	-0.1503	9	0.54805	T	0.06	-12.6711	12.8534	0.57871	0.0:1.0:0.0:0.0	.	143;93	Q9NZ81;Q9NZ81-2	PRR13_HUMAN;.	F	143;143;111;47;93;157;93;143	.	ENSP00000369112:S93F	S	+	2	0	PRR13	52126091	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.380000	0.44327	2.484000	0.83849	0.655000	0.94253	TCC	PRR13	-	NULL		0.517	PRR13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRR13	HGNC	protein_coding	OTTHUMT00000407055.1	C	NM_018457		53839824	+1	no_errors	ENST00000429243	ensembl	human	known	70_37	missense	SNP	1.000	T
PRR3	80742	genome.wustl.edu	37	6	30525185	30525185	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:30525185G>T	ENST00000376560.3	+	1	523	c.64G>T	c.(64-66)Gag>Tag	p.E22*	PRR3_ENST00000498336.1_3'UTR|PRR3_ENST00000376557.3_Nonsense_Mutation_p.E22*|GNL1_ENST00000376621.3_5'Flank	NM_025263.3	NP_079539.2	P79522	PRR3_HUMAN	proline rich 3	22	Pro-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			lung(1)|ovary(1)	2						CCCGCTGCCCGAGCGGGAAGA	0.627																																																	0													22.0	28.0	26.0					6																	30525185		1348	2602	3950	SO:0001587	stop_gained	80742			AK074531	CCDS43440.1, CCDS43441.1	6p21.32	2013-01-18	2004-05-27		ENSG00000204576	ENSG00000204576		"""Zinc fingers, CCCH-type domain containing"""	21149	protein-coding gene	gene with protein product			"""proline-rich polpeptide 3"""				Standard	NM_025263		Approved	CAT56, Em:AB014077.1, Em:AB023052.2	uc003nqi.2	P79522	OTTHUMG00000031037	ENST00000376560.3:c.64G>T	6.37:g.30525185G>T	ENSP00000365744:p.Glu22*		A1A4H4|Q5RJB5|Q5STN6	Nonsense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E22*	ENST00000376560.3	37	c.64	CCDS43440.1	6	.	.	.	.	.	.	.	.	.	.	G	40	7.958384	0.98583	.	.	ENSG00000204576	ENST00000376560;ENST00000376555;ENST00000376557	.	.	.	5.35	5.35	0.76521	.	0.140639	0.33161	N	0.005201	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.0963	14.4328	0.67261	0.0:0.0:1.0:0.0	.	.	.	.	X	22;87;22	.	ENSP00000365738:E87X	E	+	1	0	PRR3	30633164	0.969000	0.33509	0.963000	0.40424	0.407000	0.30961	2.122000	0.41987	2.780000	0.95670	0.655000	0.94253	GAG	PRR3	-	NULL		0.627	PRR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR3	HGNC	protein_coding	OTTHUMT00000076033.2	G	NM_025263		30525185	+1	no_errors	ENST00000376560	ensembl	human	known	70_37	nonsense	SNP	0.973	T
PTGES3L	100885848	genome.wustl.edu	37	17	41132190	41132190	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:41132190G>C	ENST00000453594.1	-	1	355	c.10C>G	c.(10-12)Ctt>Gtt	p.L4V	PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.L4V|PTGES3L-AARSD1_ENST00000409103.1_5'Flank|PTGES3L_ENST00000409446.3_Missense_Mutation_p.L4V|PTGES3L-AARSD1_ENST00000360221.4_5'Flank|RP11-376M2.2_ENST00000587526.1_RNA|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.L4V|RUNDC1_ENST00000361677.1_5'Flank	NM_001142653.1|NM_001261430.1	NP_001136125.1|NP_001248359.1	E9PB15	PTG3L_HUMAN	prostaglandin E synthase 3 (cytosolic)-like	4																	TTGAGAGGAAGAGAGAACATG	0.552																																																	0													17.0	20.0	19.0					17																	41132190		692	1591	2283	SO:0001583	missense	100885850				CCDS45692.1	17q21.31	2012-10-05				ENSG00000267060			43943	protein-coding gene	gene with protein product							Standard	NM_001142653		Approved			E9PB15	OTTHUMG00000180906	ENST00000453594.1:c.10C>G	17.37:g.41132190G>C	ENSP00000394415:p.Leu4Val			Missense_Mutation	SNP	pfam_tRNA_SAD,pfam_CS_domain,pfam_Ala-tRNA-synth_IIc_N,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_HSP20-like_chaperone,smart_tRNA_SAD,pfscan_CS-like_domain,pfscan_Ala-tRNA-synth_IIc_core	p.L4V	ENST00000453594.1	37	c.10		17	.	.	.	.	.	.	.	.	.	.	G	6.444	0.450133	0.12223	.	.	ENSG00000108825	ENST00000409399;ENST00000421990;ENST00000453594;ENST00000409446;ENST00000451885	T;T	0.53857	0.6;0.6	4.86	-2.76	0.05896	.	.	.	.	.	T	0.27419	0.0673	N	0.08118	0	.	.	.	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.11792	-1.0573	8	0.87932	D	0	.	5.8749	0.18824	0.3531:0.2374:0.4096:0.0	.	4;4;4	E9PB15;B9A003;B4DI73	.;.;.	V	4	ENSP00000386621:L4V;ENSP00000409924:L4V	ENSP00000386621:L4V	L	-	1	0	AARSD1	38385716	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	0.279000	0.18771	-0.900000	0.03896	-2.996000	0.00077	CTT	PTGES3L-AARSD1	-	NULL		0.552	PTGES3L-201	KNOWN	basic|appris_candidate_longest	protein_coding	PTGES3L-AARSD1	HGNC	protein_coding		G	NM_001142653		41132190	-1	no_errors	ENST00000409399	ensembl	human	known	70_37	missense	SNP	0.000	C
PTK2B	2185	genome.wustl.edu	37	8	27279825	27279825	+	Missense_Mutation	SNP	G	G	A	rs373105458		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr8:27279825G>A	ENST00000397501.1	+	10	1284	c.476G>A	c.(475-477)cGg>cAg	p.R159Q	PTK2B_ENST00000517339.1_Missense_Mutation_p.R159Q|PTK2B_ENST00000420218.2_Missense_Mutation_p.R159Q|PTK2B_ENST00000338238.4_Missense_Mutation_p.R159Q|PTK2B_ENST00000544172.1_Missense_Mutation_p.R159Q|PTK2B_ENST00000346049.5_Missense_Mutation_p.R159Q	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	159	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	CACCAGCTCCGGAACGACTAC	0.622																																																	0								G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	77.0	63.0	68.0		476,476,476,476	4.7	1.0	8		68	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	PTK2B	NM_004103.4,NM_173174.2,NM_173175.2,NM_173176.2	43,43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	159/1010,159/1010,159/968,159/1010	27279825	1,13005	2203	4300	6503	SO:0001583	missense	2185			U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.476G>A	8.37:g.27279825G>A	ENSP00000380638:p.Arg159Gln		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_cat_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R159Q	ENST00000397501.1	37	c.476	CCDS6057.1	8	.	.	.	.	.	.	.	.	.	.	G	34	5.397870	0.96030	0.0	1.16E-4	ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000522517;ENST00000412793;ENST00000517339	T;T;T;T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38;0.79;-1.38;-1.38	4.71	4.71	0.59529	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	T	0.79879	0.4522	M	0.64567	1.98	0.80722	D	1	P;P	0.39094	0.633;0.659	B;B	0.40375	0.3;0.327	T	0.81411	-0.0945	10	0.48119	T	0.1	.	15.2139	0.73247	0.0:0.0:1.0:0.0	.	159;159	Q14289-2;Q14289	.;FAK2_HUMAN	Q	159;164;159;159;159;159;159;159;159	ENSP00000380638:R159Q;ENSP00000342242:R159Q;ENSP00000440926:R159Q;ENSP00000332816:R159Q;ENSP00000391995:R159Q;ENSP00000428271:R159Q;ENSP00000416174:R159Q;ENSP00000427931:R159Q	ENSP00000342242:R159Q	R	+	2	0	PTK2B	27335742	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.095000	0.94175	2.455000	0.83008	0.650000	0.86243	CGG	PTK2B	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain		0.622	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTK2B	HGNC	protein_coding	OTTHUMT00000219916.1	G	NM_004103		27279825	+1	no_errors	ENST00000346049	ensembl	human	known	70_37	missense	SNP	1.000	A
PURA	5813	genome.wustl.edu	37	5	139494400	139494400	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:139494400G>C	ENST00000331327.3	+	1	693	c.634G>C	c.(634-636)Gag>Cag	p.E212Q		NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	212					DNA replication initiation (GO:0006270)|DNA unwinding involved in DNA replication (GO:0006268)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|DNA replication factor A complex (GO:0005662)|neuronal cell body (GO:0043025)|nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)	double-stranded telomeric DNA binding (GO:0003691)|poly(A) RNA binding (GO:0044822)|purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACGGAGTGGAGGAGGAGCC	0.637																																																	0													38.0	40.0	39.0					5																	139494400		2203	4300	6503	SO:0001583	missense	5813			BC036087	CCDS4220.1	5q31	2008-02-05			ENSG00000185129	ENSG00000185129			9701	protein-coding gene	gene with protein product		600473				1448097	Standard	NM_005859		Approved	PURALPHA, PUR1, PUR-ALPHA	uc003lfa.3	Q00577	OTTHUMG00000129242	ENST00000331327.3:c.634G>C	5.37:g.139494400G>C	ENSP00000332706:p.Glu212Gln			Missense_Mutation	SNP	pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd	p.E212Q	ENST00000331327.3	37	c.634	CCDS4220.1	5	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702880	0.88924	.	.	ENSG00000185129	ENST00000331327	T	0.33654	1.4	5.09	4.2	0.49525	.	0.059238	0.64402	D	0.000003	T	0.40815	0.1132	L	0.38838	1.175	0.54753	D	0.999982	P	0.45212	0.853	P	0.50617	0.646	T	0.32025	-0.9922	10	0.54805	T	0.06	-9.1095	14.5496	0.68057	0.0:0.0:0.8523:0.1477	.	212	Q00577	PURA_HUMAN	Q	212	ENSP00000332706:E212Q	ENSP00000332706:E212Q	E	+	1	0	PURA	139474584	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.599000	0.98280	1.351000	0.45789	0.650000	0.86243	GAG	PURA	-	pfam_PUR_DNA_RNA-bd		0.637	PURA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PURA	HGNC	protein_coding	OTTHUMT00000251341.3	G	NM_005859		139494400	+1	no_errors	ENST00000331327	ensembl	human	known	70_37	missense	SNP	1.000	C
PVRL1	5818	genome.wustl.edu	37	11	119549182	119549182	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:119549182C>T	ENST00000264025.3	-	2	903	c.373G>A	c.(373-375)Gag>Aag	p.E125K	PVRL1_ENST00000341398.2_Missense_Mutation_p.E125K|PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000340882.2_Missense_Mutation_p.E125K	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	125	Ig-like V-type.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GTAGCAAACTCGCAGATGTAG	0.607																																																	0													114.0	103.0	107.0					11																	119549182		2199	4295	6494	SO:0001583	missense	5818			X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.373G>A	11.37:g.119549182C>T	ENSP00000264025:p.Glu125Lys		O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.E125K	ENST00000264025.3	37	c.373	CCDS8426.1	11	.	.	.	.	.	.	.	.	.	.	C	18.88	3.716549	0.68844	.	.	ENSG00000110400	ENST00000341398;ENST00000264025;ENST00000340882	T;T;T	0.64803	-0.12;-0.12;-0.12	5.71	5.71	0.89125	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76328	0.3972	L	0.56199	1.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	T	0.73655	-0.3914	9	.	.	.	.	18.8391	0.92174	0.0:1.0:0.0:0.0	.	125;125;125	Q15223-3;Q15223;Q15223-2	.;PVRL1_HUMAN;.	K	125	ENSP00000344974:E125K;ENSP00000264025:E125K;ENSP00000345289:E125K	.	E	-	1	0	PVRL1	119054392	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.484000	0.81180	2.709000	0.92574	0.561000	0.74099	GAG	PVRL1	-	pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.607	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL1	HGNC	protein_coding	OTTHUMT00000388231.1	C			119549182	-1	no_errors	ENST00000264025	ensembl	human	known	70_37	missense	SNP	1.000	T
QARS	5859	genome.wustl.edu	37	3	49138860	49138860	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:49138860G>A	ENST00000306125.6	-	10	1141	c.804C>T	c.(802-804)ttC>ttT	p.F268F	QARS_ENST00000470225.1_5'UTR|QARS_ENST00000420147.2_Missense_Mutation_p.P258S|QARS_ENST00000414533.1_Silent_p.F257F			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	268					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GTTCTGGCGGGAACCGGGTAC	0.473																																																	0													120.0	112.0	115.0					3																	49138860		2203	4300	6503	SO:0001819	synonymous_variant	5859			X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.804C>T	3.37:g.49138860G>A			B4DWJ2	Missense_Mutation	SNP	pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Gln-tRNA-synth_Ib_RNA-bd_2	p.P258S	ENST00000306125.6	37	c.772	CCDS2788.1	3	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764395	0.69878	.	.	ENSG00000172053	ENST00000420147	.	.	.	5.73	2.99	0.34606	.	.	.	.	.	T	0.72104	0.3419	.	.	.	0.38059	D	0.936024	D	0.89917	1.0	D	0.91635	0.999	T	0.72301	-0.4334	7	0.45353	T	0.12	-8.7065	10.3502	0.43931	0.2127:0.0:0.7873:0.0	.	258	B7Z840	.	S	258	.	ENSP00000399119:P258S	P	-	1	0	QARS	49113864	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	1.488000	0.35551	0.358000	0.24211	0.655000	0.94253	CCC	QARS	-	NULL		0.473	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QARS	HGNC	protein_coding	OTTHUMT00000345689.2	G	NM_005051		49138860	-1	no_errors	ENST00000420147	ensembl	human	known	70_37	missense	SNP	1.000	A
RAB13	5872	genome.wustl.edu	37	1	153955952	153955952	+	Intron	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:153955952C>G	ENST00000368575.3	-	3	362				RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family						cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endosomal transport (GO:0016197)|endothelial cell chemotaxis (GO:0035767)|establishment of protein localization to plasma membrane (GO:0090002)|establishment of Sertoli cell barrier (GO:0097368)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|protein kinase A signaling (GO:0010737)|protein localization to cell leading edge (GO:1902463)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|trans-Golgi network to recycling endosome transport (GO:0044795)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATAATATATTCTGTAGCCTCA	0.507																																					Ovarian(138;395 2427 24306 43415)												0													64.0	61.0	62.0					1																	153955952		2203	4300	6503	SO:0001627	intron_variant	5872			X75593	CCDS1058.1, CCDS72921.1	1q21.2	2008-02-05			ENSG00000143545	ENSG00000143545		"""RAB, member RAS oncogene"""	9762	protein-coding gene	gene with protein product		602672				8294494	Standard	NM_002870		Approved		uc001fdt.2	P51153	OTTHUMG00000036589	ENST00000368575.3:c.246+44G>C	1.37:g.153955952C>G			A8K6B5|D3DV67|Q5U0A6|Q6GPG6|Q96GU4	RNA	SNP	-	NULL	ENST00000368575.3	37	NULL	CCDS1058.1	1																																																																																			RAB13	-	-		0.507	RAB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB13	HGNC	protein_coding	OTTHUMT00000088992.1	C	NM_002870		153955952	-1	no_errors	ENST00000462680	ensembl	human	known	70_37	rna	SNP	0.000	G
RAB35	11021	genome.wustl.edu	37	12	120535031	120535031	+	3'UTR	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr12:120535031G>A	ENST00000229340.5	-	0	812				RAB35_ENST00000543364.1_5'Flank|RAB35_ENST00000534951.1_3'UTR|RAB35_ENST00000432953.2_Nonsense_Mutation_p.Q7*	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family						antigen processing and presentation (GO:0019882)|cellular response to nerve growth factor stimulus (GO:1990090)|cytokinesis (GO:0000910)|endosomal transport (GO:0016197)|GTP catabolic process (GO:0006184)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|protein localization (GO:0008104)|protein localization to endosome (GO:0036010)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cell projection membrane (GO:0031253)|clathrin-coated endocytic vesicle (GO:0045334)|coated pit (GO:0005905)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		TGCAGTCTCTGCAGTGGACTG	0.542																																																	0													176.0	175.0	175.0					12																	120535031		2001	4166	6167	SO:0001624	3_prime_UTR_variant	11021			X79781	CCDS41846.1, CCDS53836.1	12q24	2008-07-28			ENSG00000111737	ENSG00000111737		"""RAB, member RAS oncogene"""	9774	protein-coding gene	gene with protein product		604199					Standard	NM_001167606		Approved	H-ray	uc009zww.2	Q15286	OTTHUMG00000169159	ENST00000229340.5:c.*18C>T	12.37:g.120535031G>A			B2R6E0|B4E390	Nonsense_Mutation	SNP	NULL	p.Q7*	ENST00000229340.5	37	c.19	CCDS41846.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.261003|5.261003	0.95368|0.95368	.|.	.|.	ENSG00000111737|ENSG00000111737	ENST00000427416|ENST00000432953	.|.	.|.	.|.	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	.|.	.|.	.|.	.|.	T|.	0.78666|.	0.4319|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.81780|.	-0.0776|.	5|.	0.87932|0.87932	D|D	0|0	.|.	18.6885|18.6885	0.91574|0.91574	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	77|7	.|.	ENSP00000415263:A77V|ENSP00000399317:Q7X	A|Q	-|-	2|1	0|0	RAB35|RAB35	119019414|119019414	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	5.042000|5.042000	0.64202|0.64202	2.422000|2.422000	0.82143|0.82143	0.563000|0.563000	0.77884|0.77884	GCA|CAG	RAB35	-	NULL		0.542	RAB35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB35	HGNC	protein_coding	OTTHUMT00000402599.2	G			120535031	-1	no_errors	ENST00000432953	ensembl	human	known	70_37	nonsense	SNP	1.000	A
RAD54L	8438	genome.wustl.edu	37	1	46715746	46715746	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:46715746G>C	ENST00000371975.4	+	3	839	c.165G>C	c.(163-165)ttG>ttC	p.L55F	RAD54L_ENST00000442598.1_Missense_Mutation_p.L55F	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	55					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GGAAACCTTTGAGTCAGCTAA	0.498								Direct reversal of damage;Homologous recombination																																									0													173.0	149.0	157.0					1																	46715746		2203	4300	6503	SO:0001583	missense	8438			X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.165G>C	1.37:g.46715746G>C	ENSP00000361043:p.Leu55Phe		Q5TE31|Q6IUY3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_Rad54_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L55F	ENST00000371975.4	37	c.165	CCDS532.1	1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880989	0.72294	.	.	ENSG00000085999	ENST00000442598;ENST00000371975	D;D	0.89875	-2.58;-2.58	4.95	4.04	0.47022	.	0.000000	0.64402	D	0.000001	D	0.92928	0.7750	M	0.71581	2.175	0.80722	D	1	D	0.71674	0.998	D	0.71656	0.974	D	0.92361	0.5897	10	0.44086	T	0.13	-6.1207	13.2105	0.59821	0.0789:0.0:0.9211:0.0	.	55	Q92698	RAD54_HUMAN	F	55	ENSP00000396113:L55F;ENSP00000361043:L55F	ENSP00000361043:L55F	L	+	3	2	RAD54L	46488333	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.835000	0.48175	1.208000	0.43306	0.655000	0.94253	TTG	RAD54L	-	NULL		0.498	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L	HGNC	protein_coding	OTTHUMT00000021272.1	G	NM_003579		46715746	+1	no_errors	ENST00000371975	ensembl	human	known	70_37	missense	SNP	1.000	C
RALGDS	5900	genome.wustl.edu	37	9	135985048	135985048	+	Silent	SNP	G	G	A	rs370089103		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr9:135985048G>A	ENST00000372050.3	-	4	570	c.549C>T	c.(547-549)tcC>tcT	p.S183S	RALGDS_ENST00000469972.1_5'Flank|RALGDS_ENST00000393160.3_Silent_p.S128S|RALGDS_ENST00000372062.3_Silent_p.S154S|RALGDS_ENST00000372047.3_Silent_p.S171S|RALGDS_ENST00000393157.3_Silent_p.S182S|RALGDS_ENST00000542690.1_Silent_p.S254S	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	183	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CATCCTCGTCGGAATAGGGGA	0.552			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																Melanoma(189;762 2088 15384 21931 52515)			Dom	yes		9	9q34.3	5900	ral guanine nucleotide dissociation stimulator		L	0								G	,	1,4405	2.1+/-5.4	0,1,2202	163.0	134.0	144.0		384,549	1.0	0.0	9		144	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RALGDS	NM_001042368.1,NM_006266.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	128/860,183/915	135985048	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5900			AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.549C>T	9.37:g.135985048G>A			B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S254	ENST00000372050.3	37	c.762	CCDS6959.1	9																																																																																			RALGDS	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N		0.552	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALGDS	HGNC	protein_coding	OTTHUMT00000054837.1	G	NM_006266		135985048	-1	no_errors	ENST00000542690	ensembl	human	known	70_37	silent	SNP	0.000	A
RBM27	54439	genome.wustl.edu	37	5	145643181	145643181	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:145643181G>A	ENST00000265271.5	+	14	2484	c.2318G>A	c.(2317-2319)gGa>gAa	p.G773E	RBM27_ENST00000506502.1_Missense_Mutation_p.G718E	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	773					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTGGTGCTGGAGAAGATTGC	0.383																																																	0													217.0	183.0	194.0					5																	145643181		1568	3582	5150	SO:0001583	missense	54439			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2318G>A	5.37:g.145643181G>A	ENSP00000265271:p.Gly773Glu		Q8IYW9	Missense_Mutation	SNP	pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.G773E	ENST00000265271.5	37	c.2318	CCDS43378.1	5	.	.	.	.	.	.	.	.	.	.	G	3.629	-0.075882	0.07184	.	.	ENSG00000091009	ENST00000265271	T	0.41758	0.99	5.74	4.85	0.62838	.	0.182039	0.37715	N	0.001974	T	0.23451	0.0567	N	0.24115	0.695	0.37544	D	0.91844	B;B	0.33694	0.392;0.421	B;B	0.29598	0.104;0.027	T	0.11941	-1.0567	10	0.05721	T	0.95	-9.5191	11.7749	0.51981	0.0:0.3172:0.5632:0.1196	.	773;718	Q9P2N5;B3KY61	RBM27_HUMAN;.	E	773	ENSP00000265271:G773E	ENSP00000265271:G773E	G	+	2	0	RBM27	145623374	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	1.134000	0.31442	1.377000	0.46286	0.650000	0.86243	GGA	RBM27	-	NULL		0.383	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	HGNC	protein_coding	OTTHUMT00000373420.1	G	XM_291128		145643181	+1	no_errors	ENST00000265271	ensembl	human	known	70_37	missense	SNP	1.000	A
REL	5966	genome.wustl.edu	37	2	61149532	61149532	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:61149532G>A	ENST00000295025.8	+	11	2042	c.1722G>A	c.(1720-1722)atG>atA	p.M574I	REL_ENST00000394479.3_Missense_Mutation_p.M542I	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	574					cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	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 positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			ATAACAGCATGATAAATGAGT	0.398			A		Hodgkin Lymphoma																																			Dom	yes		2	2p13-p12	5966	v-rel reticuloendotheliosis viral oncogene homolog (avian)		L	0													101.0	96.0	98.0					2																	61149532		2203	4300	6503	SO:0001583	missense	5966			M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.1722G>A	2.37:g.61149532G>A	ENSP00000295025:p.Met574Ile		Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor	p.M574I	ENST00000295025.8	37	c.1722	CCDS1864.1	2	.	.	.	.	.	.	.	.	.	.	G	4.658	0.122381	0.08931	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.39592	1.07;1.1	5.74	1.02	0.19986	.	0.733784	0.13609	N	0.375221	T	0.16514	0.0397	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.28396	-1.0045	10	0.02654	T	1	-4.2572	2.0426	0.03553	0.1083:0.3011:0.2813:0.3093	.	542;574	Q17RU2;Q04864	.;REL_HUMAN	I	574;542	ENSP00000295025:M574I;ENSP00000377989:M542I	ENSP00000295025:M574I	M	+	3	0	REL	61003036	0.014000	0.17966	0.003000	0.11579	0.674000	0.39518	0.859000	0.27858	0.733000	0.32492	0.650000	0.86243	ATG	REL	-	NULL		0.398	REL-001	KNOWN	basic|CCDS	protein_coding	REL	HGNC	protein_coding	OTTHUMT00000251576.3	G	NM_002908		61149532	+1	no_errors	ENST00000295025	ensembl	human	known	70_37	missense	SNP	0.000	A
RGSL1	353299	genome.wustl.edu	37	1	182523782	182523782	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:182523782C>T	ENST00000294854.8	+	20	3171	c.3151C>T	c.(3151-3153)Cag>Tag	p.Q1051*	RGSL1_ENST00000542961.1_3'UTR	NM_001137669.1	NP_001131141.1	A5PLK6	RGSL_HUMAN	regulator of G-protein signaling like 1	1051					termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)				central_nervous_system(2)|skin(4)	6						CAAACTTACTCAGCCAAGACT	0.498																																					Ovarian(71;11 616 11292 12944 18021 32289 33994 41738 46526)												0													133.0	115.0	120.0					1																	182523782		692	1591	2283	SO:0001587	stop_gained	353299			AF510428	CCDS58049.1	1q25	2013-04-02	2007-08-14		ENSG00000121446	ENSG00000121446			18636	protein-coding gene	gene with protein product		611012	"""regulator of G-protein signalling like 1"", ""regulator of G-protein signaling like 2"", ""regulator of G-protein signalling like 2"""	RGSL2		12801632	Standard	NM_001137669		Approved		uc009wxw.3	A5PLK6	OTTHUMG00000035217	ENST00000294854.8:c.3151C>T	1.37:g.182523782C>T	ENSP00000457748:p.Gln1051*		A2A2Z0|A6PVM2|A6PVM3|Q0VAJ4|Q0VAJ5|Q6ZRL0|Q86UV0|Q9H084	Nonsense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam	p.Q1051*	ENST00000294854.8	37	c.3151	CCDS58049.1	1																																																																																			RGSL1	-	NULL		0.498	RGSL1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	RGSL1	HGNC	protein_coding	OTTHUMT00000320710.3	C	NM_181572		182523782	+1	no_errors	ENST00000294854	ensembl	human	known	70_37	nonsense	SNP	0.001	T
RGS7	6000	genome.wustl.edu	37	1	241099999	241099999	+	Silent	SNP	C	C	T	rs374423156		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:241099999C>T	ENST00000407727.1	-	4	233	c.234G>A	c.(232-234)gcG>gcA	p.A78A	RGS7_ENST00000366563.1_Silent_p.A78A|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000366565.1_Silent_p.A78A|RGS7_ENST00000366564.1_Silent_p.A78A|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000366562.4_Silent_p.A78A|RGS7_ENST00000331110.7_Silent_p.A52A			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	78	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CCAAATGGAGCGCCTCCACTG	0.393													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16912	0.0		0.0	False		,,,				2504	0.0																0								C		0,4406		0,0,2203	71.0	77.0	75.0		234	-9.6	0.6	1		75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RGS7	NM_002924.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		78/488	241099999	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6000			BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.234G>A	1.37:g.241099999C>T			Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Silent	SNP	pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.A78	ENST00000407727.1	37	c.234		1																																																																																			RGS7	-	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom		0.393	RGS7-204	KNOWN	basic	protein_coding	RGS7	HGNC	protein_coding		C	NM_002924		241099999	-1	no_errors	ENST00000407727	ensembl	human	known	70_37	silent	SNP	0.310	T
RIMS1	22999	genome.wustl.edu	37	6	72678707	72678707	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:72678707G>A	ENST00000521978.1	+	2	186	c.186G>A	c.(184-186)gcG>gcA	p.A62A	RIMS1_ENST00000348717.5_Silent_p.A62A|RIMS1_ENST00000264839.7_Silent_p.A62A|RIMS1_ENST00000517960.1_Silent_p.A62A|RIMS1_ENST00000518273.1_Silent_p.A62A|RIMS1_ENST00000522291.1_Silent_p.A62A|RIMS1_ENST00000520567.1_Silent_p.A62A|RIMS1_ENST00000491071.2_Silent_p.A62A	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	62	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GGGACATGGCGAAGCCTGCTG	0.453																																																	0													128.0	132.0	130.0					6																	72678707		1932	4130	6062	SO:0001819	synonymous_variant	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.186G>A	6.37:g.72678707G>A			A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.A62	ENST00000521978.1	37	c.186	CCDS47449.1	6																																																																																			RIMS1	-	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain		0.453	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	G			72678707	+1	no_errors	ENST00000521978	ensembl	human	known	70_37	silent	SNP	1.000	A
RIMS1	22999	genome.wustl.edu	37	6	72892124	72892124	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:72892124G>A	ENST00000521978.1	+	6	950	c.950G>A	c.(949-951)cGa>cAa	p.R317Q	RIMS1_ENST00000348717.5_Missense_Mutation_p.R317Q|RIMS1_ENST00000264839.7_Missense_Mutation_p.R317Q|RIMS1_ENST00000517960.1_Missense_Mutation_p.R317Q|RIMS1_ENST00000518273.1_Missense_Mutation_p.R317Q|RIMS1_ENST00000522291.1_Missense_Mutation_p.R317Q|RIMS1_ENST00000520567.1_Missense_Mutation_p.R317Q|RIMS1_ENST00000491071.2_Missense_Mutation_p.R317Q	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	317					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CGGGAAAGCCGAAGGCTTGAG	0.592																																																	0													34.0	42.0	39.0					6																	72892124		1922	4131	6053	SO:0001583	missense	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.950G>A	6.37:g.72892124G>A	ENSP00000428417:p.Arg317Gln		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.R317Q	ENST00000521978.1	37	c.950	CCDS47449.1	6	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015480	0.75161	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.15139	2.45;2.59;2.51;2.59;2.6;2.6;2.59;2.5	4.84	4.84	0.62591	.	0.000000	0.56097	D	0.000031	T	0.17280	0.0415	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	P	0.53689	0.732	T	0.06409	-1.0828	10	0.09084	T	0.74	-9.7604	17.9636	0.89093	0.0:0.0:1.0:0.0	.	317	Q86UR5	RIMS1_HUMAN	Q	317	ENSP00000430101:R317Q;ENSP00000275037:R317Q;ENSP00000264839:R317Q;ENSP00000429959:R317Q;ENSP00000430408:R317Q;ENSP00000430502:R317Q;ENSP00000430932:R317Q;ENSP00000428417:R317Q	ENSP00000264839:R317Q	R	+	2	0	RIMS1	72948845	1.000000	0.71417	0.997000	0.53966	0.798000	0.45092	3.431000	0.52814	2.231000	0.72958	0.462000	0.41574	CGA	RIMS1	-	NULL		0.592	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	G			72892124	+1	no_errors	ENST00000521978	ensembl	human	known	70_37	missense	SNP	1.000	A
RIPK4	54101	genome.wustl.edu	37	21	43171267	43171267	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr21:43171267C>T	ENST00000352483.2	-	3	677	c.613G>A	c.(613-615)Gat>Aat	p.D205N	RIPK4_ENST00000542057.1_Missense_Mutation_p.D142N|RIPK4_ENST00000544709.1_Missense_Mutation_p.D142N|RIPK4_ENST00000332512.3_Missense_Mutation_p.D205N			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	205	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTGTATACATCGTGCTTGGTG	0.592																																																	0													98.0	82.0	88.0					21																	43171267		2203	4300	6503	SO:0001583	missense	54101			AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.613G>A	21.37:g.43171267C>T	ENSP00000330161:p.Asp205Asn		Q96KH0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D205N	ENST00000352483.2	37	c.613		21	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931601	0.92389	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000018	D	0.97049	0.9036	H	0.99286	4.5	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99191	1.0870	10	0.87932	D	0	-31.1853	16.3904	0.83533	0.0:1.0:0.0:0.0	.	205	P57078-2	.	N	205;205;142;142	ENSP00000332454:D205N;ENSP00000330161:D205N;ENSP00000441754:D142N;ENSP00000442901:D142N	ENSP00000332454:D205N	D	-	1	0	RIPK4	42044336	1.000000	0.71417	0.931000	0.37212	0.816000	0.46133	7.572000	0.82409	2.088000	0.63022	0.561000	0.74099	GAT	RIPK4	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.592	RIPK4-201	KNOWN	basic	protein_coding	RIPK4	HGNC	protein_coding		C	NM_020639		43171267	-1	no_errors	ENST00000352483	ensembl	human	known	70_37	missense	SNP	1.000	T
RPH3A	22895	genome.wustl.edu	37	12	113285528	113285528	+	Silent	SNP	C	C	A	rs142344302	byFrequency	TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr12:113285528C>A	ENST00000389385.4	+	5	608	c.111C>A	c.(109-111)ccC>ccA	p.P37P	RPH3A_ENST00000551052.1_Silent_p.P33P|RPH3A_ENST00000415485.3_Silent_p.P37P|RPH3A_ENST00000548866.1_Intron|RPH3A_ENST00000447659.2_Intron|RPH3A_ENST00000420983.2_Silent_p.P37P|RPH3A_ENST00000543106.2_Silent_p.P37P	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	37					intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CCGTCCACCCCGGTGGTCAGC	0.522																																																	0													67.0	64.0	65.0					12																	113285528		2203	4300	6503	SO:0001819	synonymous_variant	22895			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.111C>A	12.37:g.113285528C>A			B7Z3C3|Q96AE0	Silent	SNP	pfam_C2_Ca-dep,pfam_Rabphilin3A_effector_Zn-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom	p.P37	ENST00000389385.4	37	c.111	CCDS44979.1	12																																																																																			RPH3A	-	pfam_Rabphilin3A_effector_Zn-bd		0.522	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPH3A	HGNC	protein_coding	OTTHUMT00000405561.1	C	NM_014954		113285528	+1	no_errors	ENST00000389385	ensembl	human	known	70_37	silent	SNP	0.018	A
RPL23AP82	284942	genome.wustl.edu	37	22	51237617	51237617	+	RNA	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr22:51237617C>G	ENST00000480246.1	+	0	867					NR_026982.1																						TAATGTTTTTCATAAGAATGA	0.289																																																	0													1.0	1.0	1.0					22																	51237617		420	1006	1426			284942																															22.37:g.51237617C>G				RNA	SNP	-	NULL	ENST00000480246.1	37	NULL		22																																																																																			AC002055.4	-	-		0.289	AC002055.4-006	KNOWN	basic	processed_transcript	RPL23AP82	Clone_based_vega_gene	pseudogene	OTTHUMT00000316621.1	C			51237617	+1	no_errors	ENST00000462238	ensembl	human	known	70_37	rna	SNP	0.597	G
RPS21	6227	genome.wustl.edu	37	20	60962962	60962962	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr20:60962962C>T	ENST00000343986.4	+	4	217	c.178C>T	c.(178-180)Cgt>Tgt	p.R60C	RPS21_ENST00000450116.2_Missense_Mutation_p.R60C|RPS21_ENST00000492356.2_3'UTR|RPS21_ENST00000370562.1_3'UTR	NM_001024.3	NP_001015.1	P63220	RS21_HUMAN	ribosomal protein S21	60					cellular protein metabolic process (GO:0044267)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000461)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|structural constituent of ribosome (GO:0003735)			endometrium(2)|lung(1)|prostate(1)	4	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CGGGGCCATTCGTAGGATGGT	0.507																																																	0													127.0	122.0	124.0					20																	60962962		2202	4300	6502	SO:0001583	missense	6227			L04483	CCDS13497.1	20q13.3	2011-04-05			ENSG00000171858	ENSG00000171858		"""S ribosomal proteins"""	10409	protein-coding gene	gene with protein product	"""8.2 kDa differentiation factor"""	180477				8332502, 9582194	Standard	NM_001024		Approved	S21	uc002ycr.3	P63220	OTTHUMG00000032915	ENST00000343986.4:c.178C>T	20.37:g.60962962C>T	ENSP00000345957:p.Arg60Cys		P35265	Missense_Mutation	SNP	pfam_Ribosomal_S21e,pirsf_Ribosomal_S21e	p.R60C	ENST00000343986.4	37	c.178	CCDS13497.1	20	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545996	0.65198	.	.	ENSG00000171858	ENST00000317311;ENST00000370592;ENST00000343986;ENST00000450116	.	.	.	5.11	4.16	0.48862	.	.	.	.	.	T	0.50871	0.1641	.	.	.	0.80722	D	1	B;B	0.32245	0.361;0.21	B;B	0.32149	0.041;0.141	T	0.52946	-0.8507	7	0.56958	D	0.05	0.452	12.7796	0.57469	0.1651:0.8349:0.0:0.0	.	60;60	Q9BYK1;P63220	.;RS21_HUMAN	C	60	.	ENSP00000324438:R60C	R	+	1	0	RPS21	60396357	1.000000	0.71417	0.990000	0.47175	0.969000	0.65631	3.967000	0.56802	1.131000	0.42111	0.557000	0.71058	CGT	RPS21	-	pfam_Ribosomal_S21e,pirsf_Ribosomal_S21e		0.507	RPS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPS21	HGNC	protein_coding	OTTHUMT00000080031.2	C	NM_001024		60962962	+1	no_errors	ENST00000370592	ensembl	human	known	70_37	missense	SNP	1.000	T
RSBN1	54665	genome.wustl.edu	37	1	114308986	114308986	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:114308986G>C	ENST00000261441.5	-	7	2088	c.2025C>G	c.(2023-2025)atC>atG	p.I675M	RSBN1_ENST00000369581.2_5'UTR	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	675						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGATGAAGTAGATATCATTGT	0.438																																																	0													99.0	91.0	94.0					1																	114308986		2203	4300	6503	SO:0001583	missense	54665			AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.2025C>G	1.37:g.114308986G>C	ENSP00000261441:p.Ile675Met		A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	NULL	p.I675M	ENST00000261441.5	37	c.2025	CCDS862.1	1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595122	0.46318	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.56	2.67	0.31697	.	0.111985	0.64402	N	0.000012	T	0.31544	0.0800	L	0.54965	1.715	0.49582	D	0.999809	B	0.19073	0.033	B	0.21360	0.034	T	0.20240	-1.0281	9	0.54805	T	0.06	-5.3316	6.4379	0.21833	0.2084:0.1317:0.6599:0.0	.	675	Q5VWQ0	RSBN1_HUMAN	M	675	.	ENSP00000261441:I675M	I	-	3	3	RSBN1	114110509	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.941000	0.49011	0.388000	0.25054	0.563000	0.77884	ATC	RSBN1	-	NULL		0.438	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSBN1	HGNC	protein_coding	OTTHUMT00000033022.2	G	NM_018364		114308986	-1	no_errors	ENST00000261441	ensembl	human	known	70_37	missense	SNP	1.000	C
RSBN1L	222194	genome.wustl.edu	37	7	77325884	77325884	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:77325884C>T	ENST00000334955.8	+	1	125	c.98C>T	c.(97-99)tCc>tTc	p.S33F	RSBN1L_ENST00000445288.1_5'Flank|RSBN1L-AS1_ENST00000440088.1_lincRNA	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	33						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAACTCTCCTCCCGGGACCCT	0.662																																																	0													43.0	55.0	51.0					7																	77325884		1880	4110	5990	SO:0001583	missense	222194			AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.98C>T	7.37:g.77325884C>T	ENSP00000334040:p.Ser33Phe		C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Missense_Mutation	SNP	NULL	p.S33F	ENST00000334955.8	37	c.98	CCDS43607.1	7	.	.	.	.	.	.	.	.	.	.	C	6.223	0.409205	0.11812	.	.	ENSG00000187257	ENST00000334955	.	.	.	4.16	2.3	0.28687	.	0.614122	0.14528	N	0.314024	T	0.27384	0.0672	L	0.27053	0.805	0.22666	N	0.998874	B	0.02656	0.0	B	0.04013	0.001	T	0.17806	-1.0357	9	0.46703	T	0.11	-0.1149	6.807	0.23782	0.0:0.7216:0.1786:0.0997	.	33	Q6PCB5	RSBNL_HUMAN	F	33	.	ENSP00000334040:S33F	S	+	2	0	RSBN1L	77163820	0.967000	0.33354	0.291000	0.24904	0.030000	0.12068	2.856000	0.48341	0.483000	0.27608	-0.499000	0.04595	TCC	RSBN1L	-	NULL		0.662	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSBN1L	HGNC	protein_coding	OTTHUMT00000340455.3	C	NM_198467		77325884	+1	no_errors	ENST00000334955	ensembl	human	known	70_37	missense	SNP	0.180	T
RSPH4A	345895	genome.wustl.edu	37	6	116938064	116938064	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:116938064C>G	ENST00000229554.5	+	1	415	c.278C>G	c.(277-279)tCt>tGt	p.S93C	RSPH4A_ENST00000368581.4_Missense_Mutation_p.S93C|RSPH4A_ENST00000368580.4_Missense_Mutation_p.S93C	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	93					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCCTCTTCCTCTCCTTCTCCC	0.627									Kartagener syndrome																																								0													38.0	44.0	42.0					6																	116938064		2203	4300	6503	SO:0001583	missense	345895	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.278C>G	6.37:g.116938064C>G	ENSP00000229554:p.Ser93Cys		B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP	pfam_Radial_spoke	p.S93C	ENST00000229554.5	37	c.278	CCDS34521.1	6	.	.	.	.	.	.	.	.	.	.	C	12.50	1.955313	0.34471	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000368580	T;T;T	0.65549	-0.16;1.46;1.45	4.12	1.14	0.20703	.	1.684940	0.02944	N	0.140900	T	0.25005	0.0607	N	0.19112	0.55	0.09310	N	1	B;B	0.33448	0.412;0.289	B;B	0.35073	0.195;0.06	T	0.18713	-1.0328	10	0.38643	T	0.18	1.6757	3.5788	0.07945	0.0:0.539:0.2094:0.2516	.	93;93	Q5TD94-3;Q5TD94	.;RSH4A_HUMAN	C	93	ENSP00000357570:S93C;ENSP00000229554:S93C;ENSP00000357569:S93C	ENSP00000229554:S93C	S	+	2	0	RSPH4A	117044757	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.363000	0.07593	0.238000	0.21222	0.650000	0.86243	TCT	RSPH4A	-	NULL		0.627	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH4A	HGNC	protein_coding	OTTHUMT00000041960.1	C	NM_001010892		116938064	+1	no_errors	ENST00000229554	ensembl	human	known	70_37	missense	SNP	0.000	G
RTL1	388015	genome.wustl.edu	37	14	101349520	101349520	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr14:101349520G>A	ENST00000534062.1	-	1	1664	c.1606C>T	c.(1606-1608)Cgc>Tgc	p.R536C	MIR127_ENST00000384876.1_RNA|MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA|MIR431_ENST00000385266.1_RNA|MIR136_ENST00000385207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	536					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GGGGGCGGGCGGAAGCAGTTC	0.632																																																	0													22.0	26.0	25.0					14																	101349520		692	1591	2283	SO:0001583	missense	388015				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.1606C>T	14.37:g.101349520G>A	ENSP00000435342:p.Arg536Cys		E9PKS8	Missense_Mutation	SNP	pfam_Retrotrans_gag,superfamily_Peptidase_aspartic	p.R536C	ENST00000534062.1	37	c.1606	CCDS53910.1	14	.	.	.	.	.	.	.	.	.	.	G	15.81	2.944549	0.53079	.	.	ENSG00000254656	ENST00000534062	T	0.24538	1.85	3.95	2.01	0.26516	.	0.251147	0.21088	N	0.080372	T	0.26593	0.0650	M	0.62723	1.935	0.24266	N	0.995261	D	0.63880	0.993	B	0.44315	0.446	T	0.12553	-1.0543	10	0.54805	T	0.06	.	8.7109	0.34382	0.0:0.0:0.5679:0.4321	.	536	E9PKS8	.	C	536	ENSP00000435342:R536C	ENSP00000435342:R536C	R	-	1	0	RTL1	100419273	0.994000	0.37717	0.996000	0.52242	0.861000	0.49209	0.188000	0.17018	0.559000	0.29153	0.655000	0.94253	CGC	RTL1	-	NULL		0.632	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	HGNC	protein_coding	OTTHUMT00000395127.1	G	NM_001134888		101349520	-1	no_errors	ENST00000534062	ensembl	human	known	70_37	missense	SNP	0.988	A
RTN2	6253	genome.wustl.edu	37	19	45997562	45997562	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:45997562C>T	ENST00000245923.4	-	4	911	c.676G>A	c.(676-678)Gat>Aat	p.D226N	RTN2_ENST00000590526.1_5'UTR|PPM1N_ENST00000456399.2_5'Flank|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000344680.4_Missense_Mutation_p.D226N|RTN2_ENST00000589384.1_5'Flank|RTN2_ENST00000430715.2_5'Flank|PPM1N_ENST00000396737.2_5'Flank	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	226					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GAGTTCGAATCTCGCGATCGG	0.632																																																	0													79.0	67.0	71.0					19																	45997562		2203	4300	6503	SO:0001583	missense	6253			AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"""NSP-like protein 1"", ""Neuroendocrine-specific protein-like 1"""	603183	"""spastic paraplegia 12 (autosomal dominant)"""	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.676G>A	19.37:g.45997562C>T	ENSP00000245923:p.Asp226Asn		O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.D226N	ENST00000245923.4	37	c.676	CCDS12665.1	19	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623523	0.66901	.	.	ENSG00000125744	ENST00000344680;ENST00000245923	T;T	0.53857	0.62;0.6	5.68	4.65	0.58169	.	0.117859	0.38217	N	0.001777	T	0.48095	0.1481	L	0.27053	0.805	0.80722	D	1	D;P	0.53619	0.961;0.941	P;P	0.52159	0.691;0.616	T	0.48647	-0.9017	10	0.66056	D	0.02	-18.0727	9.5854	0.39512	0.0:0.9069:0.0:0.0931	.	226;226	O75298-2;O75298	.;RTN2_HUMAN	N	226	ENSP00000345127:D226N;ENSP00000245923:D226N	ENSP00000245923:D226N	D	-	1	0	RTN2	50689402	0.998000	0.40836	0.991000	0.47740	0.233000	0.25261	1.413000	0.34725	2.688000	0.91661	0.563000	0.77884	GAT	RTN2	-	NULL		0.632	RTN2-001	KNOWN	basic|CCDS	protein_coding	RTN2	HGNC	protein_coding	OTTHUMT00000459574.1	C	NM_005619		45997562	-1	no_errors	ENST00000245923	ensembl	human	known	70_37	missense	SNP	0.975	T
RXFP4	339403	genome.wustl.edu	37	1	155912316	155912316	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:155912316G>A	ENST00000368318.3	+	1	837	c.816G>A	c.(814-816)gtG>gtA	p.V272V		NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN	relaxin/insulin-like family peptide receptor 4	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)			endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTGTCCTGGTGAAGTTTGACC	0.547																																																	0													116.0	107.0	110.0					1																	155912316		2203	4300	6503	SO:0001819	synonymous_variant	339403			AB065617	CCDS1124.1	1q22	2012-08-08	2006-05-09	2006-03-15	ENSG00000173080	ENSG00000173080		"""GPCR / Class A : Relaxin family peptide receptors"""	14666	protein-coding gene	gene with protein product		609043	"""G protein-coupled receptor 100"", ""relaxin 3 receptor 2"", ""relaxin family peptide receptor 4"""	GPR100, RLN3R2		15956688, 16507880	Standard	NM_181885		Approved	GPCR142, RXFPR4	uc010pgs.2	Q8TDU9	OTTHUMG00000017463	ENST00000368318.3:c.816G>A	1.37:g.155912316G>A			B0M0L4|Q3MJB1|Q8NGZ8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt	p.V272	ENST00000368318.3	37	c.816	CCDS1124.1	1																																																																																			RXFP4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.547	RXFP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RXFP4	HGNC	protein_coding	OTTHUMT00000046203.1	G	NM_181885		155912316	+1	no_errors	ENST00000368318	ensembl	human	known	70_37	silent	SNP	1.000	A
RYR3	6263	genome.wustl.edu	37	15	33927942	33927942	+	Silent	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:33927942C>T	ENST00000389232.4	+	26	3373	c.3303C>T	c.(3301-3303)gtC>gtT	p.V1101V	RYR3_ENST00000415757.3_Silent_p.V1101V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1101	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.V1101V(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACATGCGAGTCGGCTGGGCGA	0.502																																																	1	Substitution - coding silent(1)	large_intestine(1)											62.0	65.0	64.0					15																	33927942		2027	4198	6225	SO:0001819	synonymous_variant	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3303C>T	15.37:g.33927942C>T			O15175|Q15412	Silent	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.V1101	ENST00000389232.4	37	c.3303	CCDS45210.1	15																																																																																			RYR3	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.502	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	C			33927942	+1	no_errors	ENST00000389232	ensembl	human	known	70_37	silent	SNP	0.003	T
SCAMP3	10067	genome.wustl.edu	37	1	155230178	155230178	+	Missense_Mutation	SNP	C	C	G	rs566125652	byFrequency	TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:155230178C>G	ENST00000302631.3	-	4	438	c.331G>C	c.(331-333)Gag>Cag	p.E111Q	SCAMP3_ENST00000355379.3_Missense_Mutation_p.E85Q|CLK2_ENST00000497188.1_5'Flank|SCAMP3_ENST00000472397.1_5'UTR	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	111					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|response to retinoic acid (GO:0032526)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCCAACTCCTCTGCCTTCCGG	0.597																																																	0													94.0	84.0	87.0					1																	155230178		2203	4300	6503	SO:0001583	missense	10067			AF005039	CCDS1105.1, CCDS1106.1	1q21	2013-02-21			ENSG00000116521	ENSG00000116521		"""Secretory carrier membrane proteins"""	10565	protein-coding gene	gene with protein product	"""Propin 1"""	606913		C1orf3		9331372, 9658162	Standard	NM_005698		Approved		uc001fjs.3	O14828	OTTHUMG00000035874	ENST00000302631.3:c.331G>C	1.37:g.155230178C>G	ENSP00000307275:p.Glu111Gln		A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	Missense_Mutation	SNP	pfam_SCAMP	p.E111Q	ENST00000302631.3	37	c.331	CCDS1105.1	1	.	.	.	.	.	.	.	.	.	.	.	13.16	2.154091	0.38021	.	.	ENSG00000116521	ENST00000302631;ENST00000355379	T;T	0.17854	2.52;2.25	4.65	4.65	0.58169	.	0.228496	0.38605	N	0.001629	T	0.06645	0.0170	N	0.25647	0.755	0.33892	D	0.637503	B;B;B	0.22346	0.006;0.057;0.068	B;B;B	0.26517	0.01;0.07;0.014	T	0.15435	-1.0437	10	0.34782	T	0.22	-6.1819	15.0884	0.72174	0.0:1.0:0.0:0.0	.	111;85;111	Q6FHJ5;O14828-2;O14828	.;.;SCAM3_HUMAN	Q	111;85	ENSP00000307275:E111Q;ENSP00000347540:E85Q	ENSP00000307275:E111Q	E	-	1	0	SCAMP3	153496802	0.501000	0.26099	1.000000	0.80357	0.991000	0.79684	2.621000	0.46418	2.415000	0.81967	0.650000	0.86243	GAG	SCAMP3	-	NULL		0.597	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAMP3	HGNC	protein_coding	OTTHUMT00000087399.1	C	NM_005698		155230178	-1	no_errors	ENST00000302631	ensembl	human	known	70_37	missense	SNP	0.998	G
RP11-182J1.1	0	genome.wustl.edu	37	15	85177859	85177859	+	RNA	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:85177859C>T	ENST00000527801.1	-	0	0				SCAND2P_ENST00000348993.5_RNA																							CCTTCAGATTCAGTCAGTAAA	0.358																																																	0																																												54581																															15.37:g.85177859C>T				RNA	SNP	-	NULL	ENST00000527801.1	37	NULL		15																																																																																			SCAND2	-	-		0.358	RP11-182J1.1-001	KNOWN	basic|exp_conf	antisense	SCAND2	HGNC	antisense	OTTHUMT00000390220.1	C			85177859	+1	no_errors	ENST00000427525	ensembl	human	known	70_37	rna	SNP	0.920	T
SCLT1	132320	genome.wustl.edu	37	4	129857841	129857841	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr4:129857841C>T	ENST00000281142.5	-	18	2301	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	600					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TCTGCACTTTCAGTAAGTTTC	0.348																																																	0													150.0	143.0	145.0					4																	129857841		2203	4300	6503	SO:0001583	missense	132320			AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1798G>A	4.37:g.129857841C>T	ENSP00000281142:p.Glu600Lys		A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	NULL	p.E600K	ENST00000281142.5	37	c.1798	CCDS3740.1	4	.	.	.	.	.	.	.	.	.	.	C	15.03	2.710937	0.48517	.	.	ENSG00000151466	ENST00000281142	T	0.51071	0.72	4.8	4.8	0.61643	.	0.165707	0.52532	D	0.000068	T	0.55114	0.1900	N	0.24115	0.695	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.53718	-0.8399	9	.	.	.	-8.0977	17.8276	0.88671	0.0:1.0:0.0:0.0	.	600	Q96NL6	SCLT1_HUMAN	K	600	ENSP00000281142:E600K	.	E	-	1	0	SCLT1	130077291	1.000000	0.71417	0.843000	0.33291	0.012000	0.07955	4.349000	0.59385	2.370000	0.80446	0.655000	0.94253	GAA	SCLT1	-	NULL		0.348	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCLT1	HGNC	protein_coding	OTTHUMT00000257176.2	C	NM_144643		129857841	-1	no_errors	ENST00000281142	ensembl	human	known	70_37	missense	SNP	0.994	T
SCN2B	6327	genome.wustl.edu	37	11	118038997	118038997	+	Missense_Mutation	SNP	C	C	T	rs201460753		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:118038997C>T	ENST00000278947.5	-	3	492	c.251G>A	c.(250-252)cGc>cAc	p.R84H		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	84	Ig-like C2-type.				cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|nervous system development (GO:0007399)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	voltage-gated sodium channel complex (GO:0001518)	sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	Valproic Acid(DB00313)|Zonisamide(DB00909)	GATCTTCATGCGGAACTGGAG	0.557																																																	0								C	HIS/ARG	0,4400		0,0,2200	64.0	59.0	60.0		251	4.9	1.0	11		60	1,8591	1.2+/-3.3	0,1,4295	no	missense	SCN2B	NM_004588.4	29	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	benign	84/216	118038997	1,12991	2200	4296	6496	SO:0001583	missense	6327			AY358945	CCDS8390.1	11q23.3	2013-09-19	2012-02-28		ENSG00000149575	ENSG00000149575		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	10589	protein-coding gene	gene with protein product		601327	"""sodium channel, voltage-gated, type II, beta polypeptide"", ""sodium channel, voltage-gated, type II, beta"""			10198179	Standard	NM_004588		Approved		uc001psf.2	O60939	OTTHUMG00000048248	ENST00000278947.5:c.251G>A	11.37:g.118038997C>T	ENSP00000278947:p.Arg84His		O75302|Q9UNN3	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like,prints_Myelin_P0	p.R84H	ENST00000278947.5	37	c.251	CCDS8390.1	11	.	.	.	.	.	.	.	.	.	.	C	14.07	2.425504	0.43020	0.0	1.16E-4	ENSG00000149575	ENST00000278947	T	0.65916	-0.18	4.9	4.9	0.64082	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.480262	0.24388	N	0.038960	T	0.37237	0.0996	N	0.08118	0	0.37548	D	0.918576	B	0.30439	0.279	B	0.26094	0.066	T	0.40059	-0.9583	10	0.30078	T	0.28	-4.2859	8.7521	0.34622	0.0:0.8327:0.0:0.1673	.	84	O60939	SCN2B_HUMAN	H	84	ENSP00000278947:R84H	ENSP00000278947:R84H	R	-	2	0	SCN2B	117544207	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.848000	0.48278	2.552000	0.86080	0.655000	0.94253	CGC	SCN2B	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like		0.557	SCN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN2B	HGNC	protein_coding	OTTHUMT00000109748.2	C	NM_004588		118038997	-1	no_errors	ENST00000278947	ensembl	human	known	70_37	missense	SNP	1.000	T
SCN7A	6332	genome.wustl.edu	37	2	167289033	167289033	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:167289033G>C	ENST00000409855.1	-	15	2513	c.2387C>G	c.(2386-2388)tCt>tGt	p.S796C		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	796					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	GCTCAATTCAGAAAGGGTATG	0.368																																																	0													233.0	220.0	224.0					2																	167289033		1834	4085	5919	SO:0001583	missense	6332			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.2387C>G	2.37:g.167289033G>C	ENSP00000386796:p.Ser796Cys			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.S796C	ENST00000409855.1	37	c.2387	CCDS46442.1	2	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393758	0.62066	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.84146	-1.81;-1.81	5.51	2.48	0.30137	Sodium ion transport-associated (1);	0.231431	0.30940	N	0.008569	D	0.86410	0.5926	M	0.63428	1.95	0.28391	N	0.919096	D	0.64830	0.994	P	0.57371	0.819	T	0.79127	-0.1931	10	0.62326	D	0.03	.	5.9477	0.19227	0.0892:0.0:0.5539:0.3569	.	796	Q01118	SCN7A_HUMAN	C	796	ENSP00000386796:S796C;ENSP00000413699:S796C	ENSP00000259060:S796C	S	-	2	0	SCN7A	166997279	0.000000	0.05858	0.997000	0.53966	0.903000	0.53119	0.368000	0.20399	0.867000	0.35654	0.561000	0.74099	TCT	SCN7A	-	pfam_Na_trans_assoc		0.368	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1	G			167289033	-1	no_errors	ENST00000409855	ensembl	human	known	70_37	missense	SNP	0.947	C
SDHAP1	255812	genome.wustl.edu	37	3	195698251	195698251	+	RNA	SNP	C	C	G	rs368657998		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:195698251C>G	ENST00000427841.1	-	0	1621					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		CAGCAAATCTCAATTTGTCAA	0.433																																					Ovarian(67;1158 1227 12109 20189 43170)												0																																												255812			BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195698251C>G				RNA	SNP	-	NULL	ENST00000427841.1	37	NULL		3																																																																																			SDHAP1	-	-		0.433	SDHAP1-002	KNOWN	basic	processed_transcript	SDHAP1	HGNC	pseudogene	OTTHUMT00000341367.1	C			195698251	-1	no_errors	ENST00000427841	ensembl	human	known	70_37	rna	SNP	1.000	G
SDHAP1	255812	genome.wustl.edu	37	3	195713453	195713453	+	RNA	SNP	C	C	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:195713453C>A	ENST00000427841.1	-	0	112					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		ACCTCGGGTTCCTGTTTGCAA	0.433																																					Ovarian(67;1158 1227 12109 20189 43170)												0																																												255812			BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195713453C>A				RNA	SNP	-	NULL	ENST00000427841.1	37	NULL		3																																																																																			SDHAP1	-	-		0.433	SDHAP1-002	KNOWN	basic	processed_transcript	SDHAP1	HGNC	pseudogene	OTTHUMT00000341367.1	C			195713453	-1	no_errors	ENST00000413474	ensembl	human	known	70_37	rna	SNP	0.000	A
SDHB	6390	genome.wustl.edu	37	1	17350561	17350561	+	Silent	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:17350561G>C	ENST00000375499.3	-	6	699	c.549C>G	c.(547-549)ctC>ctG	p.L183L		NM_003000.2	NP_002991.2	P21912	SDHB_HUMAN	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	183	4Fe-4S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00711}.				aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)|ubiquinone binding (GO:0048039)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)	TGCACTCGTAGAGCCCGTCCT	0.532			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																														yes	Rec		Familial paraganglioma	1	1p36.1-p35	6390	"""succinate dehydrogenase complex, subunit B, iron sulfur (Ip)"""		O	0													41.0	39.0	40.0					1																	17350561		2203	4300	6503	SO:0001819	synonymous_variant	6390	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	U17248	CCDS176.1	1p36.1-p35	2014-09-17			ENSG00000117118	ENSG00000117118	1.3.99.1	"""Mitochondrial respiratory chain complex / Complex II"""	10681	protein-coding gene	gene with protein product		185470		SDH1, SDH			Standard	NM_003000		Approved		uc001bae.3	P21912	OTTHUMG00000002289	ENST00000375499.3:c.549C>G	1.37:g.17350561G>C			B2R545|Q0QEY7|Q9NQ12	Silent	SNP	superfamily_Helical_ferredxn,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Succ_DH/fum_Rdtase_Fe-S	p.L183	ENST00000375499.3	37	c.549	CCDS176.1	1																																																																																			SDHB	-	superfamily_Helical_ferredxn,tigrfam_Succ_DH/fum_Rdtase_Fe-S		0.532	SDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHB	HGNC	protein_coding	OTTHUMT00000006603.1	G	NM_003000		17350561	-1	no_errors	ENST00000375499	ensembl	human	known	70_37	silent	SNP	0.741	C
KHNYN	23351	genome.wustl.edu	37	14	24909401	24909401	+	3'UTR	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr14:24909401C>T	ENST00000251343.5	+	0	5086				SDR39U1_ENST00000555365.1_Missense_Mutation_p.R90H|SDR39U1_ENST00000553930.1_Missense_Mutation_p.R132H|SDR39U1_ENST00000554698.1_Missense_Mutation_p.R149H|SDR39U1_ENST00000399390.1_Missense_Mutation_p.R162H|SDR39U1_ENST00000538105.2_Missense_Mutation_p.R175H|SDR39U1_ENST00000399395.3_Missense_Mutation_p.R257H|SDR39U1_ENST00000555561.1_5'UTR			O15037	KHNYN_HUMAN	KH and NYN domain containing								RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CATGATGGCACGCTGTCGCCC	0.602																																																	0													39.0	43.0	42.0					14																	24909401		2060	4191	6251	SO:0001624	3_prime_UTR_variant	56948			AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.*2910C>T	14.37:g.24909401C>T			Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	pfam_DUF1731_C,pfam_Epimerase_deHydtase,tigrfam_Sugar_nucleotide_Epase_put	p.R257H	ENST00000251343.5	37	c.770	CCDS32058.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.1|28.1	4.894509|4.894509	0.91889|0.91889	.|.	.|.	ENSG00000100445|ENSG00000100445	ENST00000399395;ENST00000336353;ENST00000399390;ENST00000553930;ENST00000538105;ENST00000554698;ENST00000555365;ENST00000553343;ENST00000555225|ENST00000556249	T;T;T;T;T;T;T;T|.	0.44881|.	0.91;0.91;0.91;0.91;0.91;0.91;0.91;1.39|.	4.71|4.71	4.71|4.71	0.59529|0.59529	Domain of unknown function DUF1731, C-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76550|0.76550	0.4003|0.4003	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	0.999;0.999;1.0;0.999;0.998|.	T|T	0.78450|0.78450	-0.2199|-0.2199	10|5	0.66056|.	D|.	0.02|.	-14.0398|-14.0398	15.2053|15.2053	0.73175|0.73175	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	132;257;283;175;149|.	G3V5T1;Q9NRG7-2;Q9NRG7;F6RWC2;Q86TZ5|.	.;.;D39U1_HUMAN;.;.|.	H|M	257;283;162;132;175;149;90;151;90|180	ENSP00000382327:R257H;ENSP00000382322:R162H;ENSP00000452499:R132H;ENSP00000446077:R175H;ENSP00000452438:R149H;ENSP00000451903:R90H;ENSP00000452076:R151H;ENSP00000451593:R90H|.	ENSP00000336854:R283H|.	R|V	-|-	2|1	0|0	SDR39U1|SDR39U1	23979241|23979241	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.975000|0.975000	0.68041|0.68041	6.941000|6.941000	0.75922|0.75922	2.440000|2.440000	0.82611|0.82611	0.563000|0.563000	0.77884|0.77884	CGT|GTG	SDR39U1	-	pfam_DUF1731_C,tigrfam_Sugar_nucleotide_Epase_put		0.602	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SDR39U1	HGNC	protein_coding	OTTHUMT00000412928.1	C			24909401	-1	no_errors	ENST00000399395	ensembl	human	known	70_37	missense	SNP	1.000	T
TMEM199	147007	genome.wustl.edu	37	17	26692212	26692212	+	IGR	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:26692212G>A	ENST00000292114.3	+	0	3148				CTB-96E2.3_ENST00000591482.1_RNA|CTB-96E2.7_ENST00000577850.1_RNA|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_Intron|VTN_ENST00000536498.1_Intron|CTB-96E2.2_ENST00000555059.2_Intron|VTN_ENST00000438614.1_Intron|VTN_ENST00000431468.1_Silent_p.L14L	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GGCCGTGCCAGAGGGCCATGC	0.622																																																	0													39.0	44.0	42.0					17																	26692212		2000	4166	6166	SO:0001628	intergenic_variant	645832			AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26692212G>A				Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.L14	ENST00000292114.3	37	c.40	CCDS11228.1	17																																																																																			SEBOX	-	NULL		0.622	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEBOX	HGNC	protein_coding	OTTHUMT00000255676.2	G	NM_152464		26692212	-1	no_errors	ENST00000431468	ensembl	human	known	70_37	silent	SNP	0.327	A
SEMA4A	64218	genome.wustl.edu	37	1	156131245	156131245	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:156131245G>A	ENST00000368285.3	+	9	1186	c.919G>A	c.(919-921)Gcg>Acg	p.A307T	SEMA4A_ENST00000368286.2_Missense_Mutation_p.A175T|SEMA4A_ENST00000368282.1_Missense_Mutation_p.A307T|SEMA4A_ENST00000355014.2_Missense_Mutation_p.A307T|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368284.1_Missense_Mutation_p.A175T	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	307	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.			CTQPGQLPFNVIRHAVLLPADSPTAPHIYAVFTSQW -> S APSRGSCPSTSSATRSCSPPILPQLPTSTQSSPPSG (in Ref. 1). {ECO:0000305}.	angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CATCCGCCACGCGGTCCTGCT	0.657																																																	0													54.0	49.0	51.0					1																	156131245		2203	4300	6503	SO:0001583	missense	64218			AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.919G>A	1.37:g.156131245G>A	ENSP00000357268:p.Ala307Thr		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.A307T	ENST00000368285.3	37	c.919	CCDS1132.1	1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312222	0.81358	.	.	ENSG00000196189	ENST00000435124;ENST00000414683;ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000368282	T;T;T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58;2.58;2.58	5.42	5.42	0.78866	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.209218	0.41396	D	0.000888	T	0.06462	0.0166	L	0.41492	1.28	0.34356	D	0.690466	P;P	0.42584	0.784;0.784	B;B	0.38428	0.273;0.273	T	0.09079	-1.0691	10	0.66056	D	0.02	.	12.2237	0.54447	0.0828:0.0:0.9172:0.0	.	175;307	Q5TCJ6;Q9H3S1	.;SEM4A_HUMAN	T	307;208;307;307;175;269;269;175;307	ENSP00000401391:A307T;ENSP00000399230:A208T;ENSP00000347117:A307T;ENSP00000357268:A307T;ENSP00000357267:A175T;ENSP00000357269:A175T;ENSP00000357265:A307T	ENSP00000347117:A307T	A	+	1	0	SEMA4A	154397869	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.309000	0.51903	2.535000	0.85469	0.455000	0.32223	GCG	SEMA4A	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.657	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4A	HGNC	protein_coding	OTTHUMT00000039484.2	G	NM_022367		156131245	+1	no_errors	ENST00000355014	ensembl	human	known	70_37	missense	SNP	1.000	A
SEMA4F	10505	genome.wustl.edu	37	2	74902895	74902895	+	Missense_Mutation	SNP	C	C	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:74902895C>A	ENST00000357877.2	+	12	1651	c.1502C>A	c.(1501-1503)tCc>tAc	p.S501Y	SEMA4F_ENST00000339773.5_Missense_Mutation_p.S346Y|SEMA4F_ENST00000473350.1_3'UTR	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	501	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CTGGTTGGCTCCCGTACTGAG	0.562																																																	0													99.0	95.0	96.0					2																	74902895		2203	4300	6503	SO:0001583	missense	10505			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1502C>A	2.37:g.74902895C>A	ENSP00000350547:p.Ser501Tyr		Q542Y7|Q9NS35	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.S501Y	ENST00000357877.2	37	c.1502	CCDS1955.1	2	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906089	0.52333	.	.	ENSG00000135622	ENST00000357877;ENST00000339773	T;T	0.35605	1.3;1.3	4.5	4.5	0.54988	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.349908	0.27831	N	0.017661	T	0.50429	0.1615	M	0.66506	2.035	0.34037	D	0.65454	P;D	0.56035	0.537;0.974	P;P	0.58577	0.542;0.841	T	0.65713	-0.6101	10	0.87932	D	0	.	9.8987	0.41334	0.2033:0.7967:0.0:0.0	.	346;501	O95754-2;O95754	.;SEM4F_HUMAN	Y	501;346	ENSP00000350547:S501Y;ENSP00000342675:S346Y	ENSP00000342675:S346Y	S	+	2	0	SEMA4F	74756403	0.925000	0.31364	0.984000	0.44739	0.987000	0.75469	2.835000	0.48175	2.333000	0.79357	0.467000	0.42956	TCC	SEMA4F	-	superfamily_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.562	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4F	HGNC	protein_coding	OTTHUMT00000252214.2	C	NM_004263		74902895	+1	no_errors	ENST00000357877	ensembl	human	known	70_37	missense	SNP	0.937	A
SF3B2	10992	genome.wustl.edu	37	11	65830913	65830913	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:65830913G>A	ENST00000322535.6	+	18	2177	c.2128G>A	c.(2128-2130)Gaa>Aaa	p.E710K	SF3B2_ENST00000528302.1_Missense_Mutation_p.E693K	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	710					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCCTTGGGGGGAACTGGAACC	0.433																																																	0													54.0	58.0	57.0					11																	65830913		2201	4295	6496	SO:0001583	missense	10992			U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.2128G>A	11.37:g.65830913G>A	ENSP00000318861:p.Glu710Lys		A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	pfam_DUF382,pfam_PSP,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_PSP,pfscan_SAP_DNA-bd	p.E710K	ENST00000322535.6	37	c.2128	CCDS31612.1	11	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214316	0.79352	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456	.	.	.	5.55	5.55	0.83447	.	0.102411	0.64402	D	0.000004	T	0.73466	0.3590	M	0.88031	2.925	0.80722	D	1	B	0.24576	0.106	B	0.23852	0.049	T	0.73375	-0.4002	9	0.49607	T	0.09	-12.5132	17.0751	0.86584	0.0:0.0:1.0:0.0	.	710	Q13435	SF3B2_HUMAN	K	693;710;614	.	ENSP00000318861:E710K	E	+	1	0	SF3B2	65587489	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.860000	0.92272	2.615000	0.88500	0.632000	0.83419	GAA	SF3B2	-	NULL		0.433	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B2	HGNC	protein_coding	OTTHUMT00000391352.2	G			65830913	+1	no_errors	ENST00000322535	ensembl	human	known	70_37	missense	SNP	1.000	A
SFMBT1	51460	genome.wustl.edu	37	3	52939266	52939266	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:52939266G>A	ENST00000394752.3	-	21	2869	c.2487C>T	c.(2485-2487)ctC>ctT	p.L829L	SFMBT1_ENST00000358080.2_Silent_p.L829L|SFMBT1_ENST00000296295.6_Silent_p.L786L|SFMBT1_ENST00000394750.1_Silent_p.L829L	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	829	SAM.				cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GAAGGGTAAGGAGCAACAGGG	0.438																																																	0													90.0	79.0	83.0					3																	52939266		2203	4300	6503	SO:0001819	synonymous_variant	51460			AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.2487C>T	3.37:g.52939266G>A			Q402F7|Q96C73|Q9Y4Q9	Silent	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt	p.L829	ENST00000394752.3	37	c.2487	CCDS2867.1	3																																																																																			SFMBT1	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM		0.438	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT1	HGNC	protein_coding	OTTHUMT00000353040.3	G	NM_016329		52939266	-1	no_errors	ENST00000358080	ensembl	human	known	70_37	silent	SNP	1.000	A
SGCA	6442	genome.wustl.edu	37	17	48246517	48246517	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:48246517G>A	ENST00000262018.3	+	6	685	c.649G>A	c.(649-651)Gat>Aat	p.D217N	SGCA_ENST00000344627.6_Intron|HILS1_ENST00000504307.1_RNA|SGCA_ENST00000543315.1_Intron|SGCA_ENST00000513942.1_Intron|SGCA_ENST00000451235.2_Missense_Mutation_p.D115N	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	217					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						GGCATCCCCCGATAGCCACGC	0.572											OREG0024558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													97.0	84.0	89.0					17																	48246517		2203	4300	6503	SO:0001583	missense	6442			L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"""50kD DAG"", ""Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)"", ""adhalin (limb girdle muscular dystrophy 2D)"""	600119	"""sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"""	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	ENST00000262018.3:c.649G>A	17.37:g.48246517G>A	ENSP00000262018:p.Asp217Asn	953	A6NEB8|A8K3K7|Q13710|Q13712	Missense_Mutation	SNP	pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg	p.D217N	ENST00000262018.3	37	c.649	CCDS32679.1	17	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660134	0.67586	.	.	ENSG00000108823	ENST00000262018;ENST00000451235	D;D	0.97620	-4.46;-4.46	5.14	4.16	0.48862	.	0.481828	0.21665	N	0.070960	D	0.93347	0.7879	L	0.44542	1.39	0.25064	N	0.991048	D;D	0.53151	0.958;0.958	B;B	0.41917	0.353;0.37	D	0.86937	0.2077	10	0.19147	T	0.46	-25.066	9.0433	0.36331	0.1629:0.0:0.8371:0.0	.	115;217	B7Z1L1;Q16586	.;SGCA_HUMAN	N	217;115	ENSP00000262018:D217N;ENSP00000390371:D115N	ENSP00000262018:D217N	D	+	1	0	SGCA	45601516	0.978000	0.34361	0.961000	0.40146	0.901000	0.52897	1.961000	0.40432	2.389000	0.81357	0.462000	0.41574	GAT	SGCA	-	pfam_Sarcoglycan_2		0.572	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGCA	HGNC	protein_coding	OTTHUMT00000366841.1	G	NM_000023		48246517	+1	no_errors	ENST00000262018	ensembl	human	known	70_37	missense	SNP	0.567	A
SGOL1	151648	genome.wustl.edu	37	3	20225407	20225407	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:20225407G>C	ENST00000263753.4	-	2	252	c.113C>G	c.(112-114)tCt>tGt	p.S38C	SGOL1_ENST00000425061.1_Missense_Mutation_p.S38C|SGOL1_ENST00000452020.1_Missense_Mutation_p.S38C|SGOL1_ENST00000443724.1_Missense_Mutation_p.S38C|SGOL1_ENST00000383774.1_Missense_Mutation_p.S38C|SGOL1_ENST00000417364.1_Missense_Mutation_p.S38C|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000421451.1_Missense_Mutation_p.S38C|SGOL1_ENST00000306698.2_Missense_Mutation_p.S38C|SGOL1_ENST00000442720.1_Missense_Mutation_p.S38C|SGOL1_ENST00000412868.1_Missense_Mutation_p.S38C|SGOL1_ENST00000429446.3_Missense_Mutation_p.S38C|SGOL1_ENST00000437051.1_Missense_Mutation_p.S38C|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000419233.2_Missense_Mutation_p.S38C|SGOL1_ENST00000412997.1_Missense_Mutation_p.S38C	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	38	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						AGCTATAAAAGACCTGCGTTT	0.308																																																	0													109.0	106.0	107.0					3																	20225407		2203	4300	6503	SO:0001583	missense	151648			BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.113C>G	3.37:g.20225407G>C	ENSP00000263753:p.Ser38Cys		Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Missense_Mutation	SNP	pfam_Shugoshin_N,pfam_Shugoshin_C	p.S38C	ENST00000263753.4	37	c.113	CCDS33716.1	3	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621383	0.28889	.	.	ENSG00000129810	ENST00000306698;ENST00000419233;ENST00000263753;ENST00000383774;ENST00000425061;ENST00000443724;ENST00000421451;ENST00000452020;ENST00000442720;ENST00000412997;ENST00000437051;ENST00000412868;ENST00000429446;ENST00000417364	T;T;T;T;T;T;T;T;T;T	0.50548	0.74;2.95;0.77;0.74;0.77;2.95;1.33;0.75;1.33;0.75	5.77	3.99	0.46301	Shugoshin, N-terminal (1);	0.384373	0.31847	N	0.006965	T	0.58047	0.2095	L	0.47716	1.5	0.09310	N	0.999999	D;D;D;D;D;D;D	0.89917	0.999;0.999;0.996;1.0;0.999;1.0;0.999	D;D;P;D;P;D;P	0.77004	0.927;0.934;0.794;0.989;0.871;0.961;0.871	T	0.49418	-0.8942	10	0.72032	D	0.01	.	9.0707	0.36491	0.2762:0.0:0.7238:0.0	.	38;38;38;38;38;38;38	Q5FBB7-7;B5BUA4;Q5FBB7-5;Q5FBB7-4;Q5FBB7-2;Q5FBB7;Q5FBB7-3	.;.;.;.;.;SGOL1_HUMAN;.	C	38	ENSP00000394625:S38C;ENSP00000263753:S38C;ENSP00000373284:S38C;ENSP00000414960:S38C;ENSP00000413070:S38C;ENSP00000414129:S38C;ENSP00000410458:S38C;ENSP00000389034:S38C;ENSP00000406880:S38C;ENSP00000394613:S38C	ENSP00000263753:S38C	S	-	2	0	SGOL1	20200411	0.969000	0.33509	0.961000	0.40146	0.017000	0.09413	2.399000	0.44495	0.901000	0.36495	-0.136000	0.14681	TCT	SGOL1	-	pfam_Shugoshin_N		0.308	SGOL1-009	KNOWN	basic|CCDS	protein_coding	SGOL1	HGNC	protein_coding	OTTHUMT00000340498.1	G	NM_138484		20225407	-1	no_errors	ENST00000263753	ensembl	human	known	70_37	missense	SNP	0.195	C
SGPL1	8879	genome.wustl.edu	37	10	72633155	72633155	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:72633155G>A	ENST00000373202.3	+	12	1307	c.1107G>A	c.(1105-1107)aaG>aaA	p.K369K		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	369					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)			large_intestine(4)	4						ATAGTGACAAGAAGTACAGGA	0.488																																					Colon(151;1054 2458 6676 40971)												0													148.0	127.0	134.0					10																	72633155		2203	4300	6503	SO:0001819	synonymous_variant	8879			AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.1107G>A	10.37:g.72633155G>A			B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Silent	SNP	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.K369	ENST00000373202.3	37	c.1107	CCDS31216.1	10																																																																																			SGPL1	-	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom		0.488	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGPL1	HGNC	protein_coding	OTTHUMT00000048533.1	G	NM_003901		72633155	+1	no_errors	ENST00000373202	ensembl	human	known	70_37	silent	SNP	1.000	A
SLC22A23	63027	genome.wustl.edu	37	6	3287169	3287169	+	Silent	SNP	G	G	A	rs370232474		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:3287169G>A	ENST00000406686.3	-	7	1469	c.1470C>T	c.(1468-1470)ctC>ctT	p.L490L	SLC22A23_ENST00000436008.2_Silent_p.L490L|SLC22A23_ENST00000380302.4_Silent_p.L209L|SLC22A23_ENST00000490273.1_Silent_p.L209L|PSMG4_ENST00000451246.2_Intron	NM_015482.1	NP_056297.1	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	490					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				CCCTGCGCCCGAGGAATCGGA	0.642																																																	0								G	,	0,4406		0,0,2203	78.0	56.0	63.0		1470,627	0.3	1.0	6		63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC22A23	NM_015482.1,NM_021945.5	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	490/687,209/406	3287169	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	63027			AJ420525	CCDS34331.1, CCDS47363.1, CCDS75389.1	6p25.2	2013-05-22	2008-01-11	2008-01-11	ENSG00000137266	ENSG00000137266		"""Solute carriers"""	21106	protein-coding gene	gene with protein product		611697	"""chromosome 6 open reading frame 85"""	C6orf85		17714910	Standard	NM_015482		Approved	FLJ22174	uc003mvm.3	A1A5C7	OTTHUMG00000014144	ENST00000406686.3:c.1470C>T	6.37:g.3287169G>A			A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L490	ENST00000406686.3	37	c.1470	CCDS47363.1	6																																																																																			SLC22A23	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.642	SLC22A23-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	SLC22A23	HGNC	protein_coding	OTTHUMT00000353059.1	G	NM_021945		3287169	-1	no_errors	ENST00000406686	ensembl	human	known	70_37	silent	SNP	1.000	A
SLC26A4	5172	genome.wustl.edu	37	7	107303837	107303837	+	Silent	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:107303837C>T	ENST00000265715.3	+	3	485	c.261C>T	c.(259-261)gaC>gaT	p.D87D	SLC26A4-AS1_ENST00000440512.1_RNA|SLC26A4-AS1_ENST00000587899.1_RNA|SLC26A4-AS1_ENST00000449741.1_RNA|SLC26A4-AS1_ENST00000591896.1_RNA	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	87					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TGCTTAGTGACGTCATTTCGG	0.498									Pendred syndrome																																								0																																										SO:0001819	synonymous_variant	5172	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.261C>T	7.37:g.107303837C>T			B7Z266|O43170	Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.D87	ENST00000265715.3	37	c.261	CCDS5746.1	7																																																																																			SLC26A4	-	tigrfam_SulP_transpt		0.498	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A4	HGNC	protein_coding	OTTHUMT00000337148.1	C	NM_000441		107303837	+1	no_errors	ENST00000265715	ensembl	human	known	70_37	silent	SNP	0.668	T
SLC27A2	11001	genome.wustl.edu	37	15	50489719	50489719	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:50489719G>C	ENST00000267842.5	+	2	733	c.501G>C	c.(499-501)gaG>gaC	p.E167D	SLC27A2_ENST00000544960.1_5'UTR|SLC27A2_ENST00000380902.4_Missense_Mutation_p.E167D	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	167					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CTGTCGAAGAGATACTGCCAA	0.343																																																	0													78.0	75.0	76.0					15																	50489719		2196	4295	6491	SO:0001583	missense	11001			D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.501G>C	15.37:g.50489719G>C	ENSP00000267842:p.Glu167Asp		A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E167D	ENST00000267842.5	37	c.501	CCDS10133.1	15	.	.	.	.	.	.	.	.	.	.	G	17.88	3.496244	0.64186	.	.	ENSG00000140284	ENST00000380902;ENST00000267842	T;T	0.52295	0.67;0.67	5.53	3.66	0.41972	AMP-dependent synthetase/ligase (1);	0.235784	0.42294	D	0.000725	T	0.43809	0.1264	L	0.35542	1.07	0.80722	D	1	B;P	0.41131	0.329;0.739	P;P	0.48873	0.496;0.593	T	0.14727	-1.0462	10	0.27785	T	0.31	.	10.1472	0.42771	0.1635:0.0:0.8365:0.0	.	167;167	Q6PF09;O14975	.;S27A2_HUMAN	D	167	ENSP00000370289:E167D;ENSP00000267842:E167D	ENSP00000267842:E167D	E	+	3	2	SLC27A2	48277011	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.737000	0.26144	0.706000	0.31912	0.655000	0.94253	GAG	SLC27A2	-	pfam_AMP-dep_Synth/Lig		0.343	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A2	HGNC	protein_coding	OTTHUMT00000254539.2	G	NM_003645		50489719	+1	no_errors	ENST00000267842	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC34A2	10568	genome.wustl.edu	37	4	25677984	25677984	+	Silent	SNP	C	C	T	rs114501307		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr4:25677984C>T	ENST00000382051.3	+	13	1736	c.1686C>T	c.(1684-1686)gtC>gtT	p.V562V	SLC34A2_ENST00000503434.1_Silent_p.V561V|SLC34A2_ENST00000504570.1_Silent_p.V561V	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	562					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GGGTTCCCGTCGTCTTCATCA	0.602			T	ROS1	NSCLC								C|||	1	0.000199681	0.0	0.0	5008	,	,		15427	0.001		0.0	False		,,,				2504	0.0							Dom	yes		4	4p15.2	10568	"""solute carrier family 34 (sodium phosphate), member 2"""		E	0													117.0	111.0	113.0					4																	25677984		2203	4300	6503	SO:0001819	synonymous_variant	10568			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1686C>T	4.37:g.25677984C>T			A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt	p.V562	ENST00000382051.3	37	c.1686	CCDS3435.1	4																																																																																			SLC34A2	-	tigrfam_Na/Pi_transpt		0.602	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A2	HGNC	protein_coding	OTTHUMT00000214990.1	C	NM_006424		25677984	+1	no_errors	ENST00000382051	ensembl	human	known	70_37	silent	SNP	0.005	T
SLC39A12	221074	genome.wustl.edu	37	10	18331702	18331702	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:18331702G>A	ENST00000377369.2	+	13	2289	c.2016G>A	c.(2014-2016)ttG>ttA	p.L672L	SLC39A12_ENST00000377371.3_Silent_p.L671L|SLC39A12_ENST00000377374.4_Silent_p.L635L|SLC39A12_ENST00000539911.1_Silent_p.L538L	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	672					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)	p.L635F(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ACTTTGGATTGATCCTAGGTT	0.338																																																	1	Substitution - Missense(1)	urinary_tract(1)											112.0	107.0	108.0					10																	18331702		2203	4300	6503	SO:0001819	synonymous_variant	221074				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.2016G>A	10.37:g.18331702G>A			B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Silent	SNP	pfam_ZIP	p.L672	ENST00000377369.2	37	c.2016	CCDS44362.1	10																																																																																			SLC39A12	-	pfam_ZIP		0.338	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC39A12	HGNC	protein_coding		G	NM_152725		18331702	+1	no_errors	ENST00000377369	ensembl	human	known	70_37	silent	SNP	1.000	A
SLC4A9	83697	genome.wustl.edu	37	5	139745485	139745485	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:139745485C>T	ENST00000230993.6	+	13	1884	c.1849C>T	c.(1849-1851)Cgt>Tgt	p.R617C	SLC4A9_ENST00000507527.1_Missense_Mutation_p.R617C|SLC4A9_ENST00000506545.1_Intron|SLC4A9_ENST00000506757.2_Missense_Mutation_p.R593C|SLC4A9_ENST00000432095.2_Missense_Mutation_p.R579C	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	617	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCCACCCTCGTGGCCCTGG	0.547																																																	0													174.0	182.0	179.0					5																	139745485		2047	4180	6227	SO:0001583	missense	83697			AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"""Solute carriers"""	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.1849C>T	5.37:g.139745485C>T	ENSP00000230993:p.Arg617Cys		B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.R617C	ENST00000230993.6	37	c.1849	CCDS58973.1	5	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613781	0.46631	.	.	ENSG00000113073	ENST00000230993;ENST00000506757;ENST00000432095;ENST00000507527	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	4.4	4.4	0.53042	Bicarbonate transporter, C-terminal (1);	0.384653	0.25081	N	0.033300	T	0.82107	0.4965	L	0.47716	1.5	0.38615	D	0.950998	D;D;D	0.76494	0.999;0.998;0.998	P;P;P	0.62885	0.908;0.795;0.795	D	0.83545	0.0098	10	0.54805	T	0.06	.	13.5596	0.61782	0.0:0.7279:0.2721:0.0	.	617;579;593	Q96Q91;Q96Q91-2;Q96Q91-3	B3A4_HUMAN;.;.	C	617;593;579;617	ENSP00000230993:R617C;ENSP00000424424:R593C;ENSP00000410056:R579C;ENSP00000427661:R617C	ENSP00000230993:R617C	R	+	1	0	SLC4A9	139725669	1.000000	0.71417	0.995000	0.50966	0.641000	0.38312	2.065000	0.41442	2.735000	0.93741	0.561000	0.74099	CGT	SLC4A9	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.547	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	SLC4A9	HGNC	protein_coding	OTTHUMT00000372823.1	C	NM_031467		139745485	+1	no_errors	ENST00000230993	ensembl	human	known	70_37	missense	SNP	0.970	T
SLC5A9	200010	genome.wustl.edu	37	1	48703375	48703375	+	Silent	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:48703375C>T	ENST00000438567.2	+	11	1369	c.1317C>T	c.(1315-1317)gtC>gtT	p.V439V	SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000533824.1_Silent_p.V460V|SLC5A9_ENST00000236495.5_Silent_p.V464V	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	439					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						TCCTGGTTGTCATCAGCATCC	0.582																																																	0													189.0	147.0	161.0					1																	48703375		2203	4300	6503	SO:0001819	synonymous_variant	200010			BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.1317C>T	1.37:g.48703375C>T			B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.V464	ENST00000438567.2	37	c.1392	CCDS30709.2	1																																																																																			SLC5A9	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr		0.582	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A9	HGNC	protein_coding	OTTHUMT00000022061.3	C	XM_117174		48703375	+1	no_errors	ENST00000236495	ensembl	human	known	70_37	silent	SNP	0.511	T
SLC6A7	6534	genome.wustl.edu	37	5	149576737	149576737	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:149576737G>A	ENST00000230671.2	+	4	853	c.482G>A	c.(481-483)tGg>tAg	p.W161*	SLC6A7_ENST00000524041.1_Nonsense_Mutation_p.W161*	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	161					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GGCAACTGGTGGAACACAGAA	0.602																																																	0													109.0	100.0	103.0					5																	149576737		2203	4300	6503	SO:0001587	stop_gained	6534			S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.482G>A	5.37:g.149576737G>A	ENSP00000230671:p.Trp161*		Q0VG81|Q52LU6	Nonsense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.W161*	ENST00000230671.2	37	c.482	CCDS4305.1	5	.	.	.	.	.	.	.	.	.	.	G	39	7.642588	0.98406	.	.	ENSG00000011083	ENST00000230671;ENST00000524041	.	.	.	5.09	5.09	0.68999	.	0.162979	0.44902	D	0.000418	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8752	0.92332	0.0:0.0:1.0:0.0	.	.	.	.	X	161	.	ENSP00000230671:W161X	W	+	2	0	SLC6A7	149556930	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	7.607000	0.82883	2.534000	0.85438	0.655000	0.94253	TGG	SLC6A7	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.602	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A7	HGNC	protein_coding	OTTHUMT00000252325.1	G	NM_014228		149576737	+1	no_errors	ENST00000230671	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SLFN12L	100506736	genome.wustl.edu	37	17	33806541	33806541	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:33806541C>T	ENST00000260908.7	-	2	805	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	RP11-686D22.9_ENST00000587076.1_RNA|SLFN12L_ENST00000361112.4_Missense_Mutation_p.E259K|SLFN12L_ENST00000449046.1_Missense_Mutation_p.E261K	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	230						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						AACAACTTTTCAGTCGAGAAG	0.333																																																	0													106.0	85.0	92.0					17																	33806541		692	1591	2283	SO:0001583	missense	100506736			AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.688G>A	17.37:g.33806541C>T	ENSP00000437635:p.Glu230Lys		F5H6G3	Missense_Mutation	SNP	pfam_ATPase_AAA-4	p.E261K	ENST00000260908.7	37	c.781	CCDS56026.1	17	.	.	.	.	.	.	.	.	.	.	C	0.044	-1.272920	0.01421	.	.	ENSG00000205045	ENST00000260908;ENST00000361112;ENST00000449046	T;T;T	0.27890	1.64;1.64;1.64	2.62	-1.85	0.07784	.	.	.	.	.	T	0.09862	0.0242	N	0.04203	-0.255	0.09310	N	1	B	0.23058	0.079	B	0.28784	0.094	T	0.34229	-0.9837	9	0.02654	T	1	.	3.0943	0.06304	0.0:0.2383:0.2349:0.5268	.	259	Q6IEE8-2	.	K	230;259;261	ENSP00000437635:E230K;ENSP00000354412:E259K;ENSP00000389348:E261K	ENSP00000437635:E230K	E	-	1	0	SLFN12L	30830654	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-1.163000	0.03138	-0.224000	0.09928	0.411000	0.27672	GAA	SLFN12L	-	pfam_ATPase_AAA-4		0.333	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	SLFN12L	HGNC	protein_coding	OTTHUMT00000395748.2	C	XM_496206		33806541	-1	no_errors	ENST00000449046	ensembl	human	known	70_37	missense	SNP	0.000	T
SMARCA5	8467	genome.wustl.edu	37	4	144459762	144459762	+	Silent	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr4:144459762C>T	ENST00000283131.3	+	12	1977	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	505	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TACTAATCTTCAGTCAAATGA	0.373																																																	0													105.0	106.0	106.0					4																	144459762		2203	4300	6503	SO:0001819	synonymous_variant	8467			AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.1515C>T	4.37:g.144459762C>T				Silent	SNP	pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.F505	ENST00000283131.3	37	c.1515	CCDS3761.1	4																																																																																			SMARCA5	-	pfam_HDA_complex_subunit-2/3,pfscan_Helicase_C		0.373	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCA5	HGNC	protein_coding	OTTHUMT00000365077.3	C			144459762	+1	no_errors	ENST00000283131	ensembl	human	known	70_37	silent	SNP	1.000	T
SMARCB1	6598	genome.wustl.edu	37	22	24158946	24158946	+	Intron	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr22:24158946C>T	ENST00000263121.7	+	6	824				SMARCB1_ENST00000407082.3_Intron|SMARCB1_ENST00000477836.1_3'UTR|SMARCB1_ENST00000344921.6_Intron|SMARCB1_ENST00000407422.3_Intron	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1						ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)			bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CCTTCCCTCTCCTGATTTCAG	0.532			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid																																	yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"""		M	0													132.0	126.0	128.0					22																	24158946		2203	4300	6503	SO:0001627	intron_variant	6598			U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"""sucrose nonfermenting, yeast, homolog-like 1"", ""integrase interactor 1"", ""malignant rhabdoid tumor suppressor"", ""protein phosphatase 1, regulatory subunit 144"""	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.629-11C>T	22.37:g.24158946C>T			O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	RNA	SNP	-	NULL	ENST00000263121.7	37	NULL	CCDS13817.1	22																																																																																			SMARCB1	-	-		0.532	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCB1	HGNC	protein_coding	OTTHUMT00000319872.1	C	NM_003073		24158946	+1	no_errors	ENST00000477836	ensembl	human	known	70_37	rna	SNP	0.000	T
SMARCB1	6598	genome.wustl.edu	37	22	24159068	24159068	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr22:24159068C>G	ENST00000263121.7	+	6	936	c.740C>G	c.(739-741)tCc>tGc	p.S247C	SMARCB1_ENST00000407082.3_Missense_Mutation_p.S201C|SMARCB1_ENST00000477836.1_3'UTR|SMARCB1_ENST00000344921.6_Missense_Mutation_p.S256C|SMARCB1_ENST00000407422.3_Missense_Mutation_p.S238C	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	247	2 X approximate tandem repeats.				ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(3)|p.E210fs*15(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CAGATCGAGTCCTACCCCACG	0.567			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid																																	yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"""		M	4	Unknown(3)|Deletion - Frameshift(1)	central_nervous_system(3)|soft_tissue(1)											123.0	97.0	106.0					22																	24159068		2203	4300	6503	SO:0001583	missense	6598			U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"""sucrose nonfermenting, yeast, homolog-like 1"", ""integrase interactor 1"", ""malignant rhabdoid tumor suppressor"", ""protein phosphatase 1, regulatory subunit 144"""	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.740C>G	22.37:g.24159068C>G	ENSP00000263121:p.Ser247Cys		O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Missense_Mutation	SNP	pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx	p.S247C	ENST00000263121.7	37	c.740	CCDS13817.1	22	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673150	0.88445	.	.	ENSG00000099956	ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.17	5.17	0.71159	.	0.051550	0.85682	D	0.000000	T	0.81592	0.4855	L	0.34521	1.04	0.80722	D	1	P;P;P	0.47604	0.898;0.658;0.767	P;P;P	0.59115	0.673;0.617;0.852	D	0.83410	0.0027	10	0.72032	D	0.01	-15.5117	18.0935	0.89481	0.0:1.0:0.0:0.0	.	256;238;247	G5E975;Q17S11;Q12824	.;.;SNF5_HUMAN	C	256;247;238;201	ENSP00000340883:S256C;ENSP00000263121:S247C;ENSP00000383984:S238C;ENSP00000385226:S201C	ENSP00000263121:S247C	S	+	2	0	SMARCB1	22489068	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.753000	0.85153	2.602000	0.87976	0.585000	0.79938	TCC	SMARCB1	-	pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx		0.567	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCB1	HGNC	protein_coding	OTTHUMT00000319872.1	C	NM_003073		24159068	+1	no_errors	ENST00000263121	ensembl	human	known	70_37	missense	SNP	1.000	G
SND1	27044	genome.wustl.edu	37	7	127447549	127447549	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:127447549G>C	ENST00000354725.3	+	11	1358	c.1164G>C	c.(1162-1164)aaG>aaC	p.K388N		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	388	TNase-like 3. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						ATAAGAACAAGAAACTGCGTC	0.358																																																	0													159.0	157.0	158.0					7																	127447549		2203	4300	6503	SO:0001583	missense	27044				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.1164G>C	7.37:g.127447549G>C	ENSP00000346762:p.Lys388Asn		Q13122|Q96AG0	Missense_Mutation	SNP	pfam_Staphylococcal_nuclease,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococcal_nuclease	p.K388N	ENST00000354725.3	37	c.1164	CCDS34747.1	7	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976257	0.74360	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.32753	1.44	5.86	4.99	0.66335	Staphylococcal nuclease (SNase-like) (4);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.044427	0.85682	D	0.000000	T	0.40546	0.1121	L	0.50333	1.59	0.80722	D	1	P	0.45531	0.86	P	0.52159	0.691	T	0.15549	-1.0433	10	0.41790	T	0.15	-30.3918	13.1424	0.59442	0.0773:0.0:0.9227:0.0	.	388	Q7KZF4	SND1_HUMAN	N	388;378	ENSP00000346762:K388N	ENSP00000346762:K388N	K	+	3	2	SND1	127234785	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	3.884000	0.56175	1.628000	0.50416	-0.145000	0.13849	AAG	SND1	-	pfam_Staphylococcal_nuclease,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococcal_nuclease		0.358	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SND1	HGNC	protein_coding	OTTHUMT00000349148.1	G	NM_014390		127447549	+1	no_errors	ENST00000354725	ensembl	human	known	70_37	missense	SNP	1.000	C
SNHG14	104472715	genome.wustl.edu	37	15	25458629	25458629	+	RNA	SNP	G	G	A	rs376946204		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:25458629G>A	ENST00000424208.1	+	0	2586				SNORD115-23_ENST00000364461.1_RNA|SNORD115-25_ENST00000362619.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-24_ENST00000363528.1_RNA|SNHG14_ENST00000450809.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		AGGAAGATTTGCATTGGGCCC	0.587																																																	0																																												0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25458629G>A				RNA	SNP	-	NULL	ENST00000424208.1	37	NULL		15																																																																																			SNHG14	-	-		0.587	SNHG14-002	KNOWN	basic	antisense	SNHG14	HGNC	processed_transcript	OTTHUMT00000126729.2	G			25458629	+1	no_errors	ENST00000424208	ensembl	human	known	70_37	rna	SNP	0.000	A
PINX1	54984	genome.wustl.edu	37	8	10689235	10689235	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr8:10689235G>A	ENST00000314787.3	-	4	360	c.241C>T	c.(241-243)Cag>Tag	p.Q81*	PINX1_ENST00000520018.2_5'Flank|PINX1_ENST00000426190.2_Nonsense_Mutation_p.Q79*|SOX7_ENST00000553390.1_Nonsense_Mutation_p.Q81*|PINX1_ENST00000519088.1_Nonsense_Mutation_p.Q81*|SOX7_ENST00000554914.1_Nonsense_Mutation_p.Q81*	NM_017884.4	NP_060354.4	Q96BK5	PINX1_HUMAN	PIN2/TERF1 interacting, telomerase inhibitor 1	81					mitotic metaphase plate congression (GO:0007080)|negative regulation of cell proliferation (GO:0008285)|negative regulation of telomerase activity (GO:0051974)|regulation of telomerase activity (GO:0051972)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|spindle (GO:0005819)	telomerase inhibitor activity (GO:0010521)|telomeric RNA binding (GO:0070034)			kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		AAATCATCCTGATGGGCAATC	0.413																																																	0													75.0	76.0	76.0					8																	10689235		1868	4101	5969	SO:0001587	stop_gained	83595			AF418553	CCDS47801.1, CCDS64825.1	8p23	2013-01-28				ENSG00000254093		"""G patch domain containing"""	30046	protein-coding gene	gene with protein product	"""PIN2 interacting protein 1"", ""liver-related putative tumor suppressor"""	606505				11003615, 11701125	Standard	NM_001284356		Approved	PinX1, LPTL, LPTS, FLJ20565, MGC8850		Q96BK5		ENST00000314787.3:c.241C>T	8.37:g.10689235G>A	ENSP00000318966:p.Gln81*		B2R9B1|Q548A5|Q6QWG9|Q7Z7J8|Q96QD7|Q9HBU7|Q9NWW2	Nonsense_Mutation	SNP	pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_superfamily	p.Q81*	ENST00000314787.3	37	c.241	CCDS47801.1	8	.	.	.	.	.	.	.	.	.	.	G	37	6.121478	0.97300	.	.	ENSG00000171056;ENSG00000258724;ENSG00000254093;ENSG00000254093;ENSG00000254093;ENSG00000254093	ENST00000553390;ENST00000554914;ENST00000314787;ENST00000426190;ENST00000519088;ENST00000524114	.	.	.	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	14.8865	0.70572	0.0:0.0:1.0:0.0	.	.	.	.	X	81;81;81;79;81;91	.	ENSP00000318966:Q81X	Q	-	1	0	SOX7;CTD-2135J3.4;PINX1	10726645	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	9.132000	0.94455	2.380000	0.81148	0.591000	0.81541	CAG	SOX7	-	NULL		0.413	PINX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX7	HGNC	protein_coding	OTTHUMT00000375683.1	G	NM_017884		10689235	-1	no_errors	ENST00000553390	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SPATA5	166378	genome.wustl.edu	37	4	123949532	123949532	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr4:123949532G>A	ENST00000274008.4	+	11	2130	c.2061G>A	c.(2059-2061)ctG>ctA	p.L687L	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	687					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AGAGTGGACTGAATTTTCTAG	0.453																																																	0													91.0	88.0	89.0					4																	123949532		2203	4300	6503	SO:0001819	synonymous_variant	166378			AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.2061G>A	4.37:g.123949532G>A			C9JT97|Q86XW1|Q8NI20|Q8TDL7	Silent	SNP	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase	p.L687	ENST00000274008.4	37	c.2061	CCDS3730.1	4																																																																																			SPATA5	-	pfam_ATPase_AAA_core,smart_AAA+_ATPase		0.453	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA5	HGNC	protein_coding	OTTHUMT00000256714.2	G	NM_145207		123949532	+1	no_errors	ENST00000274008	ensembl	human	known	70_37	silent	SNP	0.996	A
SPEG	10290	genome.wustl.edu	37	2	220312722	220312722	+	Missense_Mutation	SNP	G	G	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:220312722G>T	ENST00000312358.7	+	4	974	c.842G>T	c.(841-843)aGg>aTg	p.R281M	SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396698.1_Missense_Mutation_p.R177M|SPEG_ENST00000396695.2_5'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	281					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGGTTGCGCAGGGAGGAGCCC	0.652																																																	0													16.0	20.0	19.0					2																	220312722		2030	4180	6210	SO:0001583	missense	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.842G>T	2.37:g.220312722G>T	ENSP00000311684:p.Arg281Met		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R281M	ENST00000312358.7	37	c.842	CCDS42824.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.91|17.91	3.505398|3.505398	0.64410|0.64410	.|.	.|.	ENSG00000072195|ENSG00000072195	ENST00000451076|ENST00000312358;ENST00000265327;ENST00000435853;ENST00000431523;ENST00000396698	.|T;T;T;T	.|0.68765	.|-0.35;0.49;0.48;-0.08	4.88|4.88	2.95|2.95	0.34219|0.34219	.|.	.|0.157002	.|0.29730	.|N	.|0.011343	T|T	0.50463|0.50463	0.1617|0.1617	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|P	.|0.50710	.|0.938	.|B	.|0.41946	.|0.371	T|T	0.54833|0.54833	-0.8234|-0.8234	5|10	.|0.72032	.|D	.|0.01	.|.	9.7389|9.7389	0.40406|0.40406	0.0773:0.1408:0.782:0.0|0.0773:0.1408:0.782:0.0	.|.	.|281	.|Q15772	.|SPEG_HUMAN	H|M	131|281;281;131;128;177	.|ENSP00000311684:R281M;ENSP00000393134:R131M;ENSP00000410986:R128M;ENSP00000379926:R177M	.|ENSP00000265327:R281M	Q|R	+|+	3|2	2|0	SPEG|SPEG	220020966|220020966	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.063000|3.063000	0.49978|0.49978	1.056000|1.056000	0.40484|0.40484	0.655000|0.655000	0.94253|0.94253	CAG|AGG	SPEG	-	NULL		0.652	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2	G	NM_005876		220312722	+1	no_errors	ENST00000312358	ensembl	human	novel	70_37	missense	SNP	0.988	T
SPHKAP	80309	genome.wustl.edu	37	2	228882203	228882203	+	Nonsense_Mutation	SNP	C	C	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:228882203C>A	ENST00000392056.3	-	7	3413	c.3367G>T	c.(3367-3369)Gag>Tag	p.E1123*	SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.E1123*	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1123						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTGATGCTCTCACAGCTCGAC	0.542																																																	0													42.0	36.0	38.0					2																	228882203		2203	4300	6503	SO:0001587	stop_gained	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3367G>T	2.37:g.228882203C>A	ENSP00000375909:p.Glu1123*		Q68DA3|Q68DR8|Q9C0I5	Nonsense_Mutation	SNP	pfam_AKAP_110_C	p.E1123*	ENST00000392056.3	37	c.3367	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	C	41	8.937437	0.99010	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.8971	0.92427	0.0:1.0:0.0:0.0	.	.	.	.	X	1123	.	ENSP00000339886:E1123X	E	-	1	0	SPHKAP	228590447	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.152000	0.77419	2.785000	0.95823	0.655000	0.94253	GAG	SPHKAP	-	NULL		0.542	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	C	NM_030623		228882203	-1	no_errors	ENST00000392056	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SPHKAP	80309	genome.wustl.edu	37	2	228882252	228882252	+	Silent	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:228882252C>T	ENST00000392056.3	-	7	3364	c.3318G>A	c.(3316-3318)ctG>ctA	p.L1106L	SPHKAP_ENST00000344657.5_Silent_p.L1106L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1106						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCGGCTGGCTCAGCGTGCTCA	0.577																																																	0													28.0	27.0	28.0					2																	228882252		2203	4300	6503	SO:0001819	synonymous_variant	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3318G>A	2.37:g.228882252C>T			Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	pfam_AKAP_110_C	p.L1106	ENST00000392056.3	37	c.3318	CCDS46537.1	2																																																																																			SPHKAP	-	NULL		0.577	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	C	NM_030623		228882252	-1	no_errors	ENST00000392056	ensembl	human	known	70_37	silent	SNP	0.017	T
SRC	6714	genome.wustl.edu	37	20	36033336	36033336	+	3'UTR	SNP	G	G	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr20:36033336G>T	ENST00000373578.2	+	0	3514				SRC_ENST00000373567.2_3'UTR|SRC_ENST00000445403.1_3'UTR|SRC_ENST00000358208.4_3'UTR|SRC_ENST00000373558.2_3'UTR|SRC_ENST00000477066.1_3'UTR|SRC_ENST00000360723.4_3'UTR	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase						axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	TATTTAACATGTAAAAATGTC	0.512																																																	0																																										SO:0001624	3_prime_UTR_variant	6714			AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"""SH2 domain containing"""	11283	protein-coding gene	gene with protein product		190090	"""v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"""	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.*1554G>T	20.37:g.36033336G>T			E1P5V4|Q76P87|Q86VB9|Q9H5A8	RNA	SNP	-	NULL	ENST00000373578.2	37	NULL	CCDS13294.1	20																																																																																			SRC	-	-		0.512	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SRC	HGNC	protein_coding	OTTHUMT00000268142.1	G	NM_005417		36033336	+1	no_errors	ENST00000477066	ensembl	human	known	70_37	rna	SNP	1.000	T
SREBF2	6721	genome.wustl.edu	37	22	42294721	42294721	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr22:42294721G>A	ENST00000361204.4	+	15	2840	c.2674G>A	c.(2674-2676)Gat>Aat	p.D892N	SREBF2_ENST00000491541.1_3'UTR|MIR33A_ENST00000385197.1_RNA	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	892					cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCAGGGAGACGATGCAGCTGT	0.562																																																	0													121.0	95.0	104.0					22																	42294721		2203	4300	6503	SO:0001583	missense	6721			U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.2674G>A	22.37:g.42294721G>A	ENSP00000354476:p.Asp892Asn		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.D892N	ENST00000361204.4	37	c.2674	CCDS14023.1	22	.	.	.	.	.	.	.	.	.	.	G	36	5.606352	0.96626	.	.	ENSG00000198911	ENST00000361204;ENST00000457567	T	0.09630	2.96	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.35278	0.0926	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.01894	-1.1252	10	0.37606	T	0.19	-25.0849	19.2126	0.93763	0.0:0.0:1.0:0.0	.	892	Q12772	SRBP2_HUMAN	N	892	ENSP00000354476:D892N	ENSP00000354476:D892N	D	+	1	0	SREBF2	40624667	1.000000	0.71417	0.269000	0.24586	0.990000	0.78478	7.184000	0.77705	2.559000	0.86315	0.655000	0.94253	GAT	SREBF2	-	NULL		0.562	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF2	HGNC	protein_coding	OTTHUMT00000321956.1	G	NM_004599		42294721	+1	no_errors	ENST00000361204	ensembl	human	known	70_37	missense	SNP	0.999	A
SSX5	6758	genome.wustl.edu	37	X	48047168	48047168	+	Splice_Site	SNP	C	C	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:48047168C>A	ENST00000376923.1	-	6	466		c.e6-1		SSX5_ENST00000347757.1_Splice_Site|SSX5_ENST00000311798.1_Splice_Site			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						CTTTTGGGTCCTATGATGGAG	0.488																																																	0													195.0	181.0	186.0					X																	48047168		2203	4299	6502	SO:0001630	splice_region_variant	6758			BC016640	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			ENSG00000165583	ENSG00000165583			11339	protein-coding gene	gene with protein product		300327					Standard	NM_021015		Approved		uc004diz.1	O60225	OTTHUMG00000021471	ENST00000376923.1:c.467-1G>T	X.37:g.48047168C>A			Q5JQ59|Q5JQ60|Q96AW3	Splice_Site	SNP	-	e7-1	ENST00000376923.1	37	c.590-1	CCDS14289.1	X	.	.	.	.	.	.	.	.	.	.	c	6.308	0.424893	0.11987	.	.	ENSG00000165583	ENST00000311798;ENST00000376923;ENST00000347757;ENST00000403001	.	.	.	1.67	1.67	0.24075	.	.	.	.	.	.	.	.	.	.	.	0.25012	N	0.991398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.2714	0.20956	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SSX5	47932112	0.159000	0.22864	0.003000	0.11579	0.183000	0.23260	2.274000	0.43390	1.136000	0.42199	0.181000	0.17075	.	SSX5	-	-		0.488	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SSX5	HGNC	protein_coding	OTTHUMT00000056466.1	C	NM_021015	Intron	48047168	-1	no_errors	ENST00000311798	ensembl	human	known	70_37	splice_site	SNP	0.003	A
ST6GALNAC6	30815	genome.wustl.edu	37	9	130652958	130652958	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr9:130652958C>T	ENST00000373146.1	-	5	841	c.662G>A	c.(661-663)cGg>cAg	p.R221Q	ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.R221Q|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.R187Q|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.R221Q|ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.R187Q|ST6GALNAC6_ENST00000542456.1_Intron			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	221					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTCAAATTGCCGCATGCGGCC	0.642																																																	0													39.0	40.0	40.0					9																	130652958		2203	4296	6499	SO:0001583	missense	30815			BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"""Sialyltransferases"""	23364	protein-coding gene	gene with protein product		610135	"""sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"""	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.662G>A	9.37:g.130652958C>T	ENSP00000362239:p.Arg221Gln		B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Missense_Mutation	SNP	pfam_Glyco_trans_29	p.R221Q	ENST00000373146.1	37	c.662	CCDS6882.1	9	.	.	.	.	.	.	.	.	.	.	C	4.540	0.100336	0.08731	.	.	ENSG00000160408	ENST00000373146;ENST00000373141;ENST00000373142;ENST00000373144;ENST00000291839;ENST00000447681	T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42	5.81	-3.39	0.04868	.	1.163980	0.05740	N	0.601218	T	0.22166	0.0534	L	0.28649	0.875	0.28997	N	0.887688	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.38650	-0.9651	10	0.13108	T	0.6	-0.223	14.3766	0.66881	0.0:0.5516:0.0:0.4484	.	187;221	Q969X2-2;Q969X2	.;SIA7F_HUMAN	Q	221;187;221;187;221;187	ENSP00000362239:R221Q;ENSP00000362234:R187Q;ENSP00000362235:R221Q;ENSP00000362237:R187Q;ENSP00000291839:R221Q;ENSP00000405326:R187Q	ENSP00000291839:R221Q	R	-	2	0	ST6GALNAC6	129692779	0.130000	0.22417	0.274000	0.24659	0.212000	0.24457	0.134000	0.15932	-0.976000	0.03542	-1.945000	0.00491	CGG	ST6GALNAC6	-	pfam_Glyco_trans_29		0.642	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	ST6GALNAC6	HGNC	protein_coding	OTTHUMT00000054278.1	C	NM_013443		130652958	-1	no_errors	ENST00000291839	ensembl	human	known	70_37	missense	SNP	0.250	T
STAB1	23166	genome.wustl.edu	37	3	52553336	52553336	+	Silent	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:52553336G>C	ENST00000321725.6	+	49	5167	c.5091G>C	c.(5089-5091)gtG>gtC	p.V1697V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1697	FAS1 5. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ATGAGGCCGTGAACGGCATCC	0.642																																																	0													128.0	129.0	129.0					3																	52553336		2203	4299	6502	SO:0001819	synonymous_variant	23166			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.5091G>C	3.37:g.52553336G>C			A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.V1697	ENST00000321725.6	37	c.5091	CCDS33768.1	3																																																																																			STAB1	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain		0.642	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	G	NM_015136		52553336	+1	no_errors	ENST00000321725	ensembl	human	known	70_37	silent	SNP	0.996	C
STAB1	23166	genome.wustl.edu	37	3	52553417	52553417	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:52553417G>A	ENST00000321725.6	+	49	5248	c.5172G>A	c.(5170-5172)ccG>ccA	p.P1724P		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1724	FAS1 6. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTCCCATCCCGAGGGTATGAC	0.637																																																	0													82.0	84.0	83.0					3																	52553417		2203	4300	6503	SO:0001819	synonymous_variant	23166			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.5172G>A	3.37:g.52553417G>A			A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.P1724	ENST00000321725.6	37	c.5172	CCDS33768.1	3																																																																																			STAB1	-	superfamily_FAS1_domain,pfscan_FAS1_domain		0.637	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	G	NM_015136		52553417	+1	no_errors	ENST00000321725	ensembl	human	known	70_37	silent	SNP	0.000	A
STAC2	342667	genome.wustl.edu	37	17	37370527	37370527	+	Silent	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:37370527G>C	ENST00000333461.5	-	8	1269	c.900C>G	c.(898-900)ctC>ctG	p.L300L		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	300	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						GAAACTTGTAGAGTGCAACGT	0.592																																																	0													159.0	139.0	146.0					17																	37370527		2203	4300	6503	SO:0001819	synonymous_variant	342667			AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.900C>G	17.37:g.37370527G>C			Q32MA3	Silent	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_SH3_domain,prints_p67phox	p.L300	ENST00000333461.5	37	c.900	CCDS11335.1	17																																																																																			STAC2	-	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox		0.592	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAC2	HGNC	protein_coding	OTTHUMT00000444533.2	G	NM_198993		37370527	-1	no_errors	ENST00000333461	ensembl	human	known	70_37	silent	SNP	1.000	C
STAP2	55620	genome.wustl.edu	37	19	4324496	4324496	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:4324496C>T	ENST00000594605.1	-	12	1226	c.1103G>A	c.(1102-1104)aGg>aAg	p.R368K	STAP2_ENST00000597593.1_5'Flank|STAP2_ENST00000600324.1_Missense_Mutation_p.R414K	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	368						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCAGCTTCCTGCCCAAGCC	0.612																																																	0													23.0	21.0	22.0					19																	4324496		2155	4178	6333	SO:0001583	missense	55620			AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.1103G>A	19.37:g.4324496C>T	ENSP00000471052:p.Arg368Lys		A6NKK3|Q9NXI2	Missense_Mutation	SNP	pfscan_SH2	p.R414K	ENST00000594605.1	37	c.1241	CCDS45926.1	19	.	.	.	.	.	.	.	.	.	.	C	3.755	-0.050699	0.07407	.	.	ENSG00000178078	ENST00000314714;ENST00000424810	.	.	.	3.39	-0.0178	0.13967	.	0.436964	0.17508	N	0.171737	T	0.22085	0.0532	N	0.13043	0.29	0.22851	N	0.99865	B;B	0.11235	0.004;0.0	B;B	0.10450	0.005;0.001	T	0.16394	-1.0404	9	0.87932	D	0	-8.314	5.6784	0.17761	0.0:0.626:0.0:0.374	.	414;368	Q9UGK3-2;Q9UGK3	.;STAP2_HUMAN	K	414;368	.	ENSP00000317912:R414K	R	-	2	0	STAP2	4275496	0.013000	0.17824	0.469000	0.27204	0.018000	0.09664	-0.452000	0.06787	-0.001000	0.14495	0.500000	0.49745	AGG	STAP2	-	NULL		0.612	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAP2	HGNC	protein_coding	OTTHUMT00000458114.2	C	NM_001013841		4324496	-1	no_errors	ENST00000314714	ensembl	human	known	70_37	missense	SNP	0.738	T
STAU2	27067	genome.wustl.edu	37	8	74333628	74333628	+	Missense_Mutation	SNP	C	C	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr8:74333628C>A	ENST00000524300.1	-	15	2042	c.1692G>T	c.(1690-1692)aaG>aaT	p.K564N	STAU2_ENST00000522695.1_Missense_Mutation_p.K532N|STAU2_ENST00000523558.1_Missense_Mutation_p.K392N|STAU2_ENST00000521210.1_Missense_Mutation_p.K498N|STAU2-AS1_ENST00000517604.1_lincRNA	NM_001164380.1|NM_001164381.1	NP_001157852.1|NP_001157853.1	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	564	Required for dendritic transport. {ECO:0000250}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			AGTTTGATTTCTTGCAGTCCT	0.522																																																	0													113.0	101.0	105.0					8																	74333628		692	1591	2283	SO:0001583	missense	27067			Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"""staufen (Drosophila, RNA-binding protein) homolog 2"", ""staufen, RNA binding protein, homolog 2 (Drosophila)"""			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000524300.1:c.1692G>T	8.37:g.74333628C>A	ENSP00000428756:p.Lys564Asn		B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Missense_Mutation	SNP	pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	p.K564N	ENST00000524300.1	37	c.1692	CCDS55247.1	8	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138228	0.77775	.	.	ENSG00000040341	ENST00000522695;ENST00000524300;ENST00000523558;ENST00000521210	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.37	5.37	0.77165	.	0.314062	0.34245	N	0.004132	T	0.69984	0.3172	L	0.54323	1.7	0.80722	D	1	D;P;P;P	0.76494	0.999;0.816;0.816;0.608	D;B;B;B	0.80764	0.994;0.382;0.261;0.261	T	0.72391	-0.4308	10	0.87932	D	0	-13.1643	19.1044	0.93287	0.0:1.0:0.0:0.0	.	498;392;532;564	E9PEI3;E7ER74;E9PH62;E9PF26	.;.;.;.	N	532;564;392;498	ENSP00000428456:K532N;ENSP00000428756:K564N;ENSP00000428741:K392N;ENSP00000429173:K498N	ENSP00000344030:K392N	K	-	3	2	STAU2	74496182	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.062000	0.76706	2.492000	0.84095	0.655000	0.94253	AAG	STAU2	-	NULL		0.522	STAU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAU2	HGNC	protein_coding	OTTHUMT00000379000.2	C	NM_001164380		74333628	-1	no_errors	ENST00000524300	ensembl	human	known	70_37	missense	SNP	1.000	A
STK11IP	114790	genome.wustl.edu	37	2	220473122	220473122	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:220473122G>A	ENST00000456909.1	+	14	1663	c.1573G>A	c.(1573-1575)Gaa>Aaa	p.E525K	STK11IP_ENST00000295641.10_Missense_Mutation_p.E536K			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	536	Glu-rich.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		agaggaggaagaagaggagca	0.627																																																	0													7.0	8.0	8.0					2																	220473122		2122	4212	6334	SO:0001583	missense	114790			AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.1573G>A	2.37:g.220473122G>A	ENSP00000389383:p.Glu525Lys		Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	NULL	p.E525K	ENST00000456909.1	37	c.1573		2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166687	0.78339	.	.	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	T;T	0.05382	3.45;3.45	4.78	4.78	0.61160	.	0.918331	0.09333	N	0.816649	T	0.14056	0.0340	L	0.46157	1.445	0.41433	D	0.98787	P;P;P	0.49559	0.873;0.873;0.925	B;B;P	0.49752	0.426;0.426;0.621	T	0.21008	-1.0258	10	0.32370	T	0.25	4.0E-4	17.6058	0.88037	0.0:0.0:1.0:0.0	.	504;536;536	B4DUE4;Q8N1F8-2;Q8N1F8	.;.;S11IP_HUMAN	K	525;504;536	ENSP00000389383:E525K;ENSP00000295641:E536K	ENSP00000295641:E536K	E	+	1	0	STK11IP	220181366	0.612000	0.27000	0.973000	0.42090	0.445000	0.32107	3.723000	0.54955	2.477000	0.83638	0.561000	0.74099	GAA	STK11IP	-	NULL		0.627	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	STK11IP	HGNC	protein_coding	OTTHUMT00000131432.1	G	NM_052902		220473122	+1	no_errors	ENST00000456909	ensembl	human	novel	70_37	missense	SNP	0.998	A
STK17A	9263	genome.wustl.edu	37	7	43663453	43663453	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:43663453G>A	ENST00000319357.5	+	6	1065	c.886G>A	c.(886-888)Gat>Aat	p.D296N		NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	296	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein phosphorylation (GO:0006468)|regulation of reactive oxygen species metabolic process (GO:2000377)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						GTCGGCTGTTGATTTCATCAG	0.259																																																	0													93.0	92.0	92.0					7																	43663453		2203	4295	6498	SO:0001583	missense	9263			AB011420	CCDS5470.1	7p13	2008-05-15	2007-02-12		ENSG00000164543	ENSG00000164543			11395	protein-coding gene	gene with protein product	"""death-associated protein kinase-related 1"""	604726	"""serine/threonine kinase 17a (apoptosis-inducing)"""			9786912	Standard	NM_004760		Approved	DRAK1	uc003tih.3	Q9UEE5	OTTHUMG00000022825	ENST00000319357.5:c.886G>A	7.37:g.43663453G>A	ENSP00000319192:p.Asp296Asn		A4D1V6|Q8IVC8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D296N	ENST00000319357.5	37	c.886	CCDS5470.1	7	.	.	.	.	.	.	.	.	.	.	G	10.19	1.282538	0.23392	.	.	ENSG00000164543	ENST00000319357	T	0.47177	0.85	4.82	3.94	0.45596	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49305	D	0.000152	T	0.48259	0.1490	M	0.65677	2.01	0.80722	D	1	B	0.28419	0.211	B	0.30855	0.121	T	0.51012	-0.8759	10	0.62326	D	0.03	.	13.168	0.59581	0.0781:0.0:0.9219:0.0	.	296	Q9UEE5	ST17A_HUMAN	N	296	ENSP00000319192:D296N	ENSP00000319192:D296N	D	+	1	0	STK17A	43629978	1.000000	0.71417	0.942000	0.38095	0.049000	0.14656	3.080000	0.50112	0.986000	0.38683	0.557000	0.71058	GAT	STK17A	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.259	STK17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK17A	HGNC	protein_coding	OTTHUMT00000250902.1	G	NM_004760		43663453	+1	no_errors	ENST00000319357	ensembl	human	known	70_37	missense	SNP	0.998	A
STK3	6788	genome.wustl.edu	37	8	99718742	99718742	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr8:99718742C>G	ENST00000419617.2	-	6	777	c.637G>C	c.(637-639)Gaa>Caa	p.E213Q	STK3_ENST00000523601.1_Missense_Mutation_p.E241Q	NM_006281.3	NP_006272.2	Q13188	STK3_HUMAN	serine/threonine kinase 3	213	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		TCAGCCATTTCTATAGAAGTA	0.398																																																	0													98.0	99.0	98.0					8																	99718742		2082	4249	6331	SO:0001583	missense	6788			BC010640	CCDS47900.1, CCDS59108.1, CCDS75774.1	8q22.2	2011-05-24	2010-06-25		ENSG00000104375	ENSG00000104375			11406	protein-coding gene	gene with protein product		605030	"""serine/threonine kinase 3 (Ste20, yeast homolog)"""			8816758	Standard	NM_006281		Approved	MST2, KRS1	uc003yip.4	Q13188	OTTHUMG00000164651	ENST00000419617.2:c.637G>C	8.37:g.99718742C>G	ENSP00000390500:p.Glu213Gln		A8K722|B3KYA7|Q15445|Q15801|Q96FM6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH,pfscan_Prot_kinase_cat_dom	p.E213Q	ENST00000419617.2	37	c.637	CCDS47900.1	8	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230171	0.58777	.	.	ENSG00000104375	ENST00000419617;ENST00000523601	T;T	0.70045	-0.45;-0.45	5.0	5.0	0.66597	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79930	0.4531	L	0.60012	1.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.99	T	0.82222	-0.0564	10	0.87932	D	0	.	17.8821	0.88843	0.0:1.0:0.0:0.0	.	213;241	Q13188;B3KYA7	STK3_HUMAN;.	Q	213;241	ENSP00000390500:E213Q;ENSP00000429744:E241Q	ENSP00000390500:E213Q	E	-	1	0	STK3	99787918	1.000000	0.71417	1.000000	0.80357	0.054000	0.15201	7.794000	0.85869	2.308000	0.77769	0.563000	0.77884	GAA	STK3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.398	STK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK3	HGNC	protein_coding	OTTHUMT00000379635.1	C	NM_006281		99718742	-1	no_errors	ENST00000419617	ensembl	human	known	70_37	missense	SNP	1.000	G
STX8	9482	genome.wustl.edu	37	17	9448566	9448566	+	Silent	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:9448566G>C	ENST00000306357.4	-	4	673	c.246C>G	c.(244-246)ctC>ctG	p.L82L	STX8_ENST00000574431.1_5'UTR|RP11-565F19.3_ENST00000574460.1_RNA	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8	82					endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|transport (GO:0006810)|vesicle fusion (GO:0006906)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						GATCATCCAAGAGGTTCTGTC	0.398																																																	0													147.0	133.0	137.0					17																	9448566		2203	4300	6503	SO:0001819	synonymous_variant	9482			AF115323	CCDS32565.1	17p13.1	2012-05-25			ENSG00000170310	ENSG00000170310			11443	protein-coding gene	gene with protein product		604203				9852078, 10198254	Standard	NM_004853		Approved	CARB	uc002glx.3	Q9UNK0	OTTHUMG00000177844	ENST00000306357.4:c.246C>G	17.37:g.9448566G>C			O60712|Q53XT8	Silent	SNP	pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.L82	ENST00000306357.4	37	c.246	CCDS32565.1	17																																																																																			STX8	-	NULL		0.398	STX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX8	HGNC	protein_coding	OTTHUMT00000439206.3	G	NM_004853		9448566	-1	no_errors	ENST00000306357	ensembl	human	known	70_37	silent	SNP	0.000	C
SUFU	51684	genome.wustl.edu	37	10	104353761	104353761	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:104353761C>T	ENST00000369902.3	+	6	861	c.695C>T	c.(694-696)cCc>cTc	p.P232L	SUFU_ENST00000369899.2_Missense_Mutation_p.P232L|SUFU_ENST00000471000.1_3'UTR|RNU6-43P_ENST00000384302.1_RNA|SUFU_ENST00000423559.2_Missense_Mutation_p.P232L	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	232					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GCTGGCGGCCCCTGGCTGATA	0.562			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																														yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	suppressor of fused homolog (Drosophila)		O	0													121.0	110.0	114.0					10																	104353761		2203	4300	6503	SO:0001583	missense	51684	Familial Cancer Database		AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.695C>T	10.37:g.104353761C>T	ENSP00000358918:p.Pro232Leu		Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Missense_Mutation	SNP	pfam_SUFU_C,pfam_SUFU_domain,pirsf_Suppressor_of_fused_protein	p.P232L	ENST00000369902.3	37	c.695	CCDS7537.1	10	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746774	0.89663	.	.	ENSG00000107882	ENST00000369902;ENST00000369899;ENST00000423559	D;D;D	0.85861	-2.04;-2.04;-2.04	5.87	4.96	0.65561	Suppressor of fused domain (1);	0.091491	0.85682	D	0.000000	D	0.92289	0.7554	M	0.91920	3.255	0.80722	D	1	D;D;D	0.67145	0.985;0.967;0.996	P;P;P	0.56823	0.807;0.563;0.804	D	0.93585	0.6916	10	0.72032	D	0.01	-16.5018	15.406	0.74877	0.0:0.9323:0.0:0.0677	.	232;232;232	Q9UMX1;Q9UMX1-2;Q9UMX1-3	SUFU_HUMAN;.;.	L	232	ENSP00000358918:P232L;ENSP00000358915:P232L;ENSP00000411597:P232L	ENSP00000358915:P232L	P	+	2	0	SUFU	104343751	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.664000	0.61540	2.785000	0.95823	0.655000	0.94253	CCC	SUFU	-	pfam_SUFU_domain,pirsf_Suppressor_of_fused_protein		0.562	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUFU	HGNC	protein_coding	OTTHUMT00000050089.1	C	NM_016169		104353761	+1	no_errors	ENST00000369902	ensembl	human	known	70_37	missense	SNP	1.000	T
SUMF1	285362	genome.wustl.edu	37	3	4508728	4508728	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:4508728G>A	ENST00000272902.5	-	1	237	c.202C>T	c.(202-204)Cac>Tac	p.H68Y	SUMF1_ENST00000405420.2_Missense_Mutation_p.H68Y|SUMF1_ENST00000534863.1_Missense_Mutation_p.H68Y|SUMF1_ENST00000383843.5_Missense_Mutation_p.H68Y|SUMF1_ENST00000458465.2_Missense_Mutation_p.H68Y	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	68					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		GAGTATCGGTGAGCGGCTGCC	0.731																																																	0													3.0	5.0	4.0					3																	4508728		1484	3419	4903	SO:0001583	missense	285362			BC017005	CCDS2564.1, CCDS54548.1, CCDS54549.1	3p26.1	2009-07-23			ENSG00000144455	ENSG00000144455			20376	protein-coding gene	gene with protein product		607939				12757705, 12757706	Standard	NM_182760		Approved	FGE, UNQ3037	uc003bpz.2	Q8NBK3	OTTHUMG00000090269	ENST00000272902.5:c.202C>T	3.37:g.4508728G>A	ENSP00000272902:p.His68Tyr		B4DXK5|B7XD05|E9PGL0|G5E9B0|Q0VAC6|Q0VAC7|Q2NL78|Q53ZE4|Q6UY39|Q96AK5|Q96DK8	Missense_Mutation	SNP	pfam_FGE_dom,superfamily_C-type_lectin_fold	p.H68Y	ENST00000272902.5	37	c.202	CCDS2564.1	3	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675057	0.67928	.	.	ENSG00000144455	ENST00000534982;ENST00000534863;ENST00000272902;ENST00000383843;ENST00000458465;ENST00000405420	D;D;D;D;D	0.92545	-2.61;-3.06;-3.02;-2.21;-3.06	4.51	4.51	0.55191	.	0.539283	0.19787	N	0.106085	D	0.86781	0.6015	L	0.40543	1.245	0.34886	D	0.745077	B;B;B;B	0.33073	0.396;0.139;0.138;0.086	B;B;B;B	0.32211	0.142;0.05;0.059;0.025	D	0.86538	0.1826	10	0.16896	T	0.51	-18.8174	12.9119	0.58184	0.0:0.0:1.0:0.0	.	68;68;68;68	E9PF05;G5E9B0;E9PGL0;Q8NBK3	.;.;.;SUMF1_HUMAN	Y	68	ENSP00000440421:H68Y;ENSP00000272902:H68Y;ENSP00000373355:H68Y;ENSP00000410060:H68Y;ENSP00000384977:H68Y	ENSP00000272902:H68Y	H	-	1	0	SUMF1	4483728	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	3.186000	0.50942	2.482000	0.83794	0.585000	0.79938	CAC	SUMF1	-	NULL		0.731	SUMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUMF1	HGNC	protein_coding	OTTHUMT00000206591.2	G	NM_182760		4508728	-1	no_errors	ENST00000448413	ensembl	human	known	70_37	missense	SNP	1.000	A
SUN5	140732	genome.wustl.edu	37	20	31573703	31573703	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr20:31573703C>T	ENST00000356173.3	-	11	828	c.736G>A	c.(736-738)Gtg>Atg	p.V246M	SUN5_ENST00000375523.3_Missense_Mutation_p.V221M	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	246	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CCAGGTGTCACGTTGGGCTAG	0.562																																																	0													85.0	69.0	74.0					20																	31573703		2203	4300	6503	SO:0001583	missense	140732			AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"""testis and spermatogenesis related gene 4"""	613942	"""sperm associated antigen 4-like"""	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.736G>A	20.37:g.31573703C>T	ENSP00000348496:p.Val246Met		A6NJ82|Q5T9R0	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.V246M	ENST00000356173.3	37	c.736	CCDS13209.1	20	.	.	.	.	.	.	.	.	.	.	C	9.482	1.098447	0.20552	.	.	ENSG00000167098	ENST00000356173;ENST00000375523	T;T	0.47528	0.84;0.84	5.57	-8.34	0.00988	Sad1/UNC-like, C-terminal (2);	0.350260	0.28572	N	0.014870	T	0.26376	0.0644	L	0.33245	0.995	0.80722	D	1	P	0.35468	0.503	B	0.25506	0.061	T	0.04855	-1.0922	10	0.38643	T	0.18	-6.4459	15.3015	0.73955	0.0:0.3132:0.0:0.6868	.	246	Q8TC36	SUN5_HUMAN	M	246;221	ENSP00000348496:V246M;ENSP00000364673:V221M	ENSP00000348496:V246M	V	-	1	0	SUN5	31037364	0.036000	0.19791	0.257000	0.24404	0.531000	0.34715	-0.095000	0.11077	-1.709000	0.01399	-0.727000	0.03589	GTG	SUN5	-	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like		0.562	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUN5	HGNC	protein_coding	OTTHUMT00000078659.1	C	NM_080675		31573703	-1	no_errors	ENST00000356173	ensembl	human	known	70_37	missense	SNP	0.517	T
SYDE2	84144	genome.wustl.edu	37	1	85630294	85630294	+	Silent	SNP	G	G	C	rs77178722	byFrequency	TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:85630294G>C	ENST00000341460.5	-	6	3049	c.3000C>G	c.(2998-3000)gtC>gtG	p.V1000V		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	1000	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		AATCAGTAAAGACTCTGTTGT	0.388																																																	0													70.0	66.0	67.0					1																	85630294		1870	4104	5974	SO:0001819	synonymous_variant	84144			AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.3000C>G	1.37:g.85630294G>C			Q5VT96|Q8NDB8|Q9H8A6	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.V1000	ENST00000341460.5	37	c.3000	CCDS44169.1	1																																																																																			SYDE2	-	superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.388	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE2	HGNC	protein_coding	OTTHUMT00000127989.2	G			85630294	-1	no_errors	ENST00000341460	ensembl	human	known	70_37	silent	SNP	1.000	C
SYCP1	6847	genome.wustl.edu	37	1	115398161	115398161	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:115398161C>G	ENST00000369522.3	+	2	316	c.76C>G	c.(76-78)Cag>Gag	p.Q26E	SYCP1_ENST00000369518.1_Missense_Mutation_p.Q26E	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	26	Asp/Glu-rich (acidic).				chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTGAAACCTCAGACCCTGGG	0.423																																																	0													77.0	77.0	77.0					1																	115398161		2203	4300	6503	SO:0001583	missense	6847			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.76C>G	1.37:g.115398161C>G	ENSP00000358535:p.Gln26Glu		O14963|Q5VXJ6	Missense_Mutation	SNP	pfam_SCP-1	p.Q26E	ENST00000369522.3	37	c.76	CCDS879.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231374	0.79688	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.52754	1.23;0.65;1.23	5.16	5.16	0.70880	.	0.138830	0.50627	D	0.000118	T	0.31544	0.0800	L	0.34521	1.04	0.47441	D	0.999424	P;P	0.42692	0.787;0.787	B;B	0.41236	0.351;0.351	T	0.29971	-0.9994	10	0.66056	D	0.02	-1.0436	18.2802	0.90096	0.0:1.0:0.0:0.0	.	26;26	B7ZLS9;Q15431	.;SYCP1_HUMAN	E	26	ENSP00000358535:Q26E;ENSP00000410011:Q26E;ENSP00000358531:Q26E	ENSP00000358531:Q26E	Q	+	1	0	SYCP1	115199684	1.000000	0.71417	0.989000	0.46669	0.599000	0.36880	6.008000	0.70739	2.400000	0.81607	0.561000	0.74099	CAG	SYCP1	-	NULL		0.423	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP1	HGNC	protein_coding	OTTHUMT00000033386.1	C	NM_003176		115398161	+1	no_errors	ENST00000369518	ensembl	human	known	70_37	missense	SNP	1.000	G
SYNE2	23224	genome.wustl.edu	37	14	64610593	64610593	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr14:64610593G>A	ENST00000344113.4	+	83	15622	c.15410G>A	c.(15409-15411)aGa>aAa	p.R5137K	SYNE2_ENST00000357395.3_Missense_Mutation_p.R1522K|SYNE2_ENST00000554584.1_Missense_Mutation_p.R5054K|SYNE2_ENST00000555002.1_Missense_Mutation_p.R1771K|SYNE2_ENST00000394768.2_Missense_Mutation_p.R1522K|SYNE2_ENST00000358025.3_Missense_Mutation_p.R5137K|ESR2_ENST00000542956.1_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5137					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CGCTATGAAAGAACGGAGTTT	0.458																																																	0													269.0	271.0	270.0					14																	64610593		2203	4300	6503	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.15410G>A	14.37:g.64610593G>A	ENSP00000341781:p.Arg5137Lys		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.R5137K	ENST00000344113.4	37	c.15410	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342040	0.24339	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.50001	0.76;0.82;0.76;0.76;0.76;0.82	5.33	5.33	0.75918	.	0.000000	0.56097	D	0.000035	T	0.32010	0.0815	L	0.28458	0.855	0.80722	D	1	B;P;B;B	0.36110	0.015;0.537;0.007;0.441	B;B;B;B	0.35470	0.017;0.203;0.018;0.185	T	0.10042	-1.0647	10	0.07482	T	0.82	.	12.3737	0.55269	0.0778:0.0:0.9222:0.0	.	1522;5054;5137;5137	Q8WXH0-7;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	K	5137;1522;5137;5054;5060;1771;1522	ENSP00000350719:R5137K;ENSP00000349969:R1522K;ENSP00000341781:R5137K;ENSP00000452570:R5054K;ENSP00000450831:R1771K;ENSP00000378249:R1522K	ENSP00000261678:R5060K	R	+	2	0	SYNE2	63680346	1.000000	0.71417	0.983000	0.44433	0.988000	0.76386	5.098000	0.64548	2.479000	0.83701	0.650000	0.86243	AGA	SYNE2	-	smart_Spectrin/alpha-actinin		0.458	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64610593	+1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	1.000	A
SYT3	84258	genome.wustl.edu	37	19	51132566	51132566	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:51132566G>A	ENST00000338916.4	-	4	1899	c.1266C>T	c.(1264-1266)atC>atT	p.I422I	SYT3_ENST00000600079.1_Silent_p.I422I|SYT3_ENST00000593901.1_Silent_p.I422I|SYT3_ENST00000544769.1_Silent_p.I422I	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	422					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CGCCCTCCACGATGTCCCTCC	0.682																																																	0													17.0	19.0	18.0					19																	51132566		2203	4297	6500	SO:0001819	synonymous_variant	84258			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.1266C>T	19.37:g.51132566G>A			Q8N5Z1|Q8N640	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.I422	ENST00000338916.4	37	c.1266	CCDS12798.1	19																																																																																			SYT3	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.682	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SYT3	HGNC	protein_coding	OTTHUMT00000464910.1	G	NM_032298		51132566	-1	no_errors	ENST00000338916	ensembl	human	known	70_37	silent	SNP	1.000	A
TADA2B	93624	genome.wustl.edu	37	4	7045505	7045505	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr4:7045505G>A	ENST00000310074.7	+	1	388	c.199G>A	c.(199-201)Gag>Aag	p.E67K	RP11-367J11.2_ENST00000500031.1_RNA|CCDC96_ENST00000310085.4_5'Flank|TADA2B_ENST00000512388.1_Intron	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	67	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GCCCGAGGCCGAGGGCGGCTG	0.736																																																	0													8.0	10.0	9.0					4																	7045505		1868	3996	5864	SO:0001583	missense	93624			AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.199G>A	4.37:g.7045505G>A	ENSP00000308022:p.Glu67Lys		A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.E67K	ENST00000310074.7	37	c.199	CCDS47007.1	4	.	.	.	.	.	.	.	.	.	.	G	2.821	-0.244872	0.05906	.	.	ENSG00000173011	ENST00000310074	T	0.55930	0.49	3.13	1.01	0.19927	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.132610	0.49305	U	0.000157	T	0.38532	0.1044	L	0.52905	1.665	0.80722	D	1	B	0.23249	0.082	B	0.14023	0.01	T	0.11348	-1.0591	10	0.12103	T	0.63	-21.9866	7.3179	0.26511	0.0:0.1853:0.6243:0.1904	.	67	Q86TJ2	TAD2B_HUMAN	K	67	ENSP00000308022:E67K	ENSP00000308022:E67K	E	+	1	0	TADA2B	7096406	1.000000	0.71417	0.991000	0.47740	0.402000	0.30811	4.900000	0.63252	0.384000	0.24942	-0.516000	0.04426	GAG	TADA2B	-	superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Myb-like_dom		0.736	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA2B	HGNC	protein_coding	OTTHUMT00000358687.2	G	NM_152293		7045505	+1	no_errors	ENST00000310074	ensembl	human	known	70_37	missense	SNP	1.000	A
TAF1	6872	genome.wustl.edu	37	X	70618466	70618466	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:70618466G>A	ENST00000373790.4	+	24	3713	c.3662G>A	c.(3661-3663)cGa>cAa	p.R1221Q	TAF1_ENST00000423759.1_Missense_Mutation_p.R1242Q|TAF1_ENST00000449580.1_Missense_Mutation_p.R1221Q|TAF1_ENST00000276072.3_Missense_Mutation_p.R1242Q	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1221					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.R1221Q(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GAAGAGATGCGAAAAGAACGG	0.458																																																	1	Substitution - Missense(1)	large_intestine(1)											89.0	76.0	80.0					X																	70618466		2203	4300	6503	SO:0001583	missense	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3662G>A	X.37:g.70618466G>A	ENSP00000362895:p.Arg1221Gln		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.R1221Q	ENST00000373790.4	37	c.3662	CCDS35325.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	24.2|24.2	4.499550|4.499550	0.85176|0.85176	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000483985|ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	.|T;T;T;T	.|0.17528	.|2.27;2.27;2.27;2.27	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.31071|0.31071	0.0785|0.0785	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.63046	.|0.992;0.977;0.982	.|P;P;P	.|0.56648	.|0.803;0.543;0.625	T|T	0.01432|0.01432	-1.1356|-1.1356	5|10	.|0.62326	.|D	.|0.03	.|.	18.5393|18.5393	0.91022|0.91022	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1221;1221;1242	.|P21675-4;P21675;P21675-2	.|.;TAF1_HUMAN;.	K|Q	132|1221;1221;1242;1242	.|ENSP00000362895:R1221Q;ENSP00000389000:R1221Q;ENSP00000406549:R1242Q;ENSP00000276072:R1242Q	.|ENSP00000276072:R1242Q	E|R	+|+	1|2	0|0	TAF1|TAF1	70535191|70535191	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.473000|9.473000	0.97714|0.97714	2.321000|2.321000	0.78463|0.78463	0.468000|0.468000	0.43344|0.43344	GAA|CGA	TAF1	-	pirsf_TAF1_animal		0.458	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2	G	NM_004606		70618466	+1	no_errors	ENST00000449580	ensembl	human	known	70_37	missense	SNP	1.000	A
TAF4	6874	genome.wustl.edu	37	20	60585161	60585161	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr20:60585161G>A	ENST00000252996.4	-	4	1701	c.1702C>T	c.(1702-1704)Cag>Tag	p.Q568*	TAF4_ENST00000609045.1_5'UTR	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	568					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GTCCCCGTCTGAACAGCCGTC	0.607																																																	0													97.0	79.0	85.0					20																	60585161		2203	4300	6503	SO:0001587	stop_gained	6874			Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.1702C>T	20.37:g.60585161G>A	ENSP00000252996:p.Gln568*		A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Nonsense_Mutation	SNP	pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1	p.Q568*	ENST00000252996.4	37	c.1702	CCDS33500.1	20	.	.	.	.	.	.	.	.	.	.	G	37	6.002550	0.97189	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	.	.	.	4.8	4.8	0.61643	.	0.563953	0.18511	N	0.139045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-7.3974	17.8435	0.88722	0.0:0.0:1.0:0.0	.	.	.	.	X	568;432	.	ENSP00000252996:Q568X	Q	-	1	0	TAF4	60018556	1.000000	0.71417	0.969000	0.41365	0.174000	0.22865	6.757000	0.74924	2.226000	0.72624	0.313000	0.20887	CAG	TAF4	-	NULL		0.607	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF4	HGNC	protein_coding	OTTHUMT00000079968.2	G	NM_003185		60585161	-1	no_errors	ENST00000252996	ensembl	human	known	70_37	nonsense	SNP	1.000	A
TBC1D1	23216	genome.wustl.edu	37	4	38134784	38134784	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr4:38134784C>T	ENST00000261439.4	+	19	3567	c.3212C>T	c.(3211-3213)tCc>tTc	p.S1071F	TBC1D1_ENST00000407365.1_3'UTR|TBC1D1_ENST00000508802.1_Missense_Mutation_p.S1062F	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	1071					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CTTATCGATTCCTCTCCTCTC	0.398																																																	0													131.0	120.0	124.0					4																	38134784		2203	4300	6503	SO:0001583	missense	23216			AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.3212C>T	4.37:g.38134784C>T	ENSP00000261439:p.Ser1071Phe		B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom	p.S1071F	ENST00000261439.4	37	c.3212	CCDS33972.1	4	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403151	0.83230	.	.	ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000454732	T;T	0.04917	3.53;3.93	4.97	4.97	0.65823	.	0.000000	0.64402	D	0.000008	T	0.19685	0.0473	L	0.53249	1.67	0.80722	D	1	D;P;P	0.58620	0.983;0.828;0.93	P;B;P	0.60789	0.879;0.44;0.496	T	0.00080	-1.2110	10	0.59425	D	0.04	-13.1108	18.7978	0.92003	0.0:1.0:0.0:0.0	.	1062;803;1071	E9PGH8;Q6PJJ8;Q86TI0	.;.;TBCD1_HUMAN	F	1062;1071;335	ENSP00000423651:S1062F;ENSP00000261439:S1071F	ENSP00000261439:S1071F	S	+	2	0	TBC1D1	37811179	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	2.767000	0.47637	2.735000	0.93741	0.655000	0.94253	TCC	TBC1D1	-	NULL		0.398	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D1	HGNC	protein_coding	OTTHUMT00000317443.2	C	NM_015173		38134784	+1	no_errors	ENST00000261439	ensembl	human	known	70_37	missense	SNP	1.000	T
TBC1D21	161514	genome.wustl.edu	37	15	74166088	74166088	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:74166088G>A	ENST00000300504.2	+	1	121	c.38G>A	c.(37-39)aGa>aAa	p.R13K	TBC1D21_ENST00000535547.2_Missense_Mutation_p.R13K|RP11-24D15.1_ENST00000562667.1_RNA|RP11-24D15.1_ENST00000569137.1_RNA|TBC1D21_ENST00000562056.1_Missense_Mutation_p.R13K	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	13						acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CTCTCTGCCAGACAGTCAGCC	0.567											OREG0023267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													200.0	124.0	150.0					15																	74166088		2198	4297	6495	SO:0001583	missense	161514			BC033516	CCDS10252.1, CCDS66822.1	15q24	2013-07-09			ENSG00000167139	ENSG00000167139			28536	protein-coding gene	gene with protein product	"""male germ cell-specific expressed, containing a RabGAP domain"""					21128978	Standard	XR_243080		Approved	MGC34741, MgcRabGAP	uc002avz.3	Q8IYX1	OTTHUMG00000137594	ENST00000300504.2:c.38G>A	15.37:g.74166088G>A	ENSP00000300504:p.Arg13Lys	1150	B9A6M2	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.R13K	ENST00000300504.2	37	c.38	CCDS10252.1	15	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297427	0.40694	.	.	ENSG00000167139	ENST00000300504;ENST00000535547	T;T	0.14766	2.56;2.48	5.64	1.1	0.20463	.	0.616514	0.14353	N	0.324932	T	0.07548	0.0190	N	0.14661	0.345	0.09310	N	1	B;B	0.27791	0.083;0.189	B;B	0.29785	0.05;0.107	T	0.35624	-0.9781	10	0.36615	T	0.2	-5.7762	6.4767	0.22039	0.0913:0.0:0.3519:0.5568	.	13;13	B9A6M2;Q8IYX1	.;TBC21_HUMAN	K	13	ENSP00000300504:R13K;ENSP00000439325:R13K	ENSP00000300504:R13K	R	+	2	0	TBC1D21	71953141	0.922000	0.31269	0.022000	0.16811	0.946000	0.59487	0.352000	0.20113	0.279000	0.22186	0.563000	0.77884	AGA	TBC1D21	-	NULL		0.567	TBC1D21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D21	HGNC	protein_coding	OTTHUMT00000268994.1	G	NM_153356		74166088	+1	no_errors	ENST00000300504	ensembl	human	known	70_37	missense	SNP	0.062	A
TBC1D9	23158	genome.wustl.edu	37	4	141578289	141578289	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr4:141578289C>T	ENST00000442267.2	-	13	2373	c.2299G>A	c.(2299-2301)Gag>Aag	p.E767K		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	767							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ATGTCTACCTCAGGGTAAGGT	0.498																																																	0													154.0	158.0	156.0					4																	141578289		2036	4179	6215	SO:0001583	missense	23158			AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.2299G>A	4.37:g.141578289C>T	ENSP00000411197:p.Glu767Lys		A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.E767K	ENST00000442267.2	37	c.2299	CCDS47136.1	4	.	.	.	.	.	.	.	.	.	.	C	14.46	2.541893	0.45280	.	.	ENSG00000109436	ENST00000442267	T	0.08008	3.14	5.72	4.88	0.63580	Rab-GAP/TBC domain (1);	0.098275	0.64402	D	0.000002	T	0.08268	0.0206	L	0.39326	1.205	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10177	-1.0641	10	0.07482	T	0.82	.	16.9039	0.86120	0.0:0.8722:0.1278:0.0	.	767	Q6ZT07	TBCD9_HUMAN	K	767	ENSP00000411197:E767K	ENSP00000411197:E767K	E	-	1	0	TBC1D9	141797739	1.000000	0.71417	0.634000	0.29324	0.989000	0.77384	6.085000	0.71343	1.405000	0.46838	0.655000	0.94253	GAG	TBC1D9	-	superfamily_Rab-GTPase-TBC_dom		0.498	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D9	HGNC	protein_coding	OTTHUMT00000364806.1	C	NM_015130		141578289	-1	no_errors	ENST00000442267	ensembl	human	known	70_37	missense	SNP	1.000	T
TCN2	6948	genome.wustl.edu	37	22	31011416	31011416	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr22:31011416G>A	ENST00000215838.3	+	5	1203	c.709G>A	c.(709-711)Gag>Aag	p.E237K	TCN2_ENST00000407817.3_Missense_Mutation_p.E210K|TCN2_ENST00000405742.3_Missense_Mutation_p.E233K			P20062	TCO2_HUMAN	transcobalamin II	237					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCAGACCCCCGAGGGCCACTT	0.582																																																	0													69.0	62.0	64.0					22																	31011416		2203	4300	6503	SO:0001583	missense	6948				CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"""macrocytic anemia"""	613441	"""transcobalamin II; macrocytic anemia"""			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.709G>A	22.37:g.31011416G>A	ENSP00000215838:p.Glu237Lys		Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase	p.E237K	ENST00000215838.3	37	c.709	CCDS13881.1	22	.	.	.	.	.	.	.	.	.	.	G	12.07	1.827706	0.32329	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.14144	2.53;2.53;2.53	5.82	2.53	0.30540	.	0.326617	0.37304	N	0.002142	T	0.15392	0.0371	M	0.77616	2.38	0.42323	D	0.992263	P;B;B	0.38504	0.634;0.45;0.45	B;B;B	0.32289	0.143;0.062;0.062	T	0.03051	-1.1078	10	0.52906	T	0.07	-11.8859	9.3953	0.38399	0.2144:0.0:0.7856:0.0	.	210;233;237	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	K	237;233;210	ENSP00000215838:E237K;ENSP00000385914:E233K;ENSP00000384914:E210K	ENSP00000215838:E237K	E	+	1	0	TCN2	29341416	0.961000	0.32948	0.293000	0.24932	0.100000	0.18952	1.737000	0.38197	0.333000	0.23563	0.561000	0.74099	GAG	TCN2	-	pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase		0.582	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCN2	HGNC	protein_coding	OTTHUMT00000321282.2	G	NM_000355		31011416	+1	no_errors	ENST00000215838	ensembl	human	known	70_37	missense	SNP	0.587	A
TCF20	6942	genome.wustl.edu	37	22	42606778	42606778	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr22:42606778C>T	ENST00000359486.3	-	1	4670	c.4534G>A	c.(4534-4536)Gaa>Aaa	p.E1512K	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Missense_Mutation_p.E1512K	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1512					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCCTTCTCTTCAGCCTTGGGG	0.502																																																	0													81.0	78.0	79.0					22																	42606778		2203	4300	6503	SO:0001583	missense	6942			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.4534G>A	22.37:g.42606778C>T	ENSP00000352463:p.Glu1512Lys		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	smart_Znf_PHD	p.E1512K	ENST00000359486.3	37	c.4534	CCDS14033.1	22	.	.	.	.	.	.	.	.	.	.	C	17.51	3.408528	0.62399	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.59906	0.23;0.23	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000001	T	0.67069	0.2854	L	0.29908	0.895	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.78314	0.991;0.98	T	0.65315	-0.6198	10	0.40728	T	0.16	-19.2679	19.1925	0.93672	0.0:1.0:0.0:0.0	.	1512;1512	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	K	1512	ENSP00000352463:E1512K;ENSP00000335561:E1512K	ENSP00000335561:E1512K	E	-	1	0	TCF20	40936722	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.726000	0.54977	2.767000	0.95098	0.655000	0.94253	GAA	TCF20	-	NULL		0.502	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	C	NM_181492		42606778	-1	no_errors	ENST00000359486	ensembl	human	known	70_37	missense	SNP	1.000	T
TCOF1	6949	genome.wustl.edu	37	5	149754645	149754645	+	Silent	SNP	G	G	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:149754645G>T	ENST00000504761.2	+	10	1407	c.1407G>T	c.(1405-1407)ggG>ggT	p.G469G	TCOF1_ENST00000394269.3_Silent_p.G469G|TCOF1_ENST00000377797.3_Silent_p.G469G|TCOF1_ENST00000323668.7_Silent_p.G392G|TCOF1_ENST00000451292.1_Silent_p.G469G|TCOF1_ENST00000445265.2_Silent_p.G392G|TCOF1_ENST00000513346.1_Silent_p.G469G|TCOF1_ENST00000439160.2_Silent_p.G469G			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	469					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCAGGTGGGGAAGCAGGAGG	0.652																																																	0													23.0	28.0	27.0					5																	149754645		2203	4300	6503	SO:0001819	synonymous_variant	6949				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.1407G>T	5.37:g.149754645G>T			A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Silent	SNP	pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.G469	ENST00000504761.2	37	c.1407	CCDS54936.1	5																																																																																			TCOF1	-	pfam_TCS_treacle		0.652	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	HGNC	protein_coding	OTTHUMT00000380552.1	G	NM_001008656		149754645	+1	no_errors	ENST00000451292	ensembl	human	known	70_37	silent	SNP	0.000	T
TCOF1	6949	genome.wustl.edu	37	5	149754679	149754679	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:149754679G>A	ENST00000504761.2	+	10	1441	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K	TCOF1_ENST00000394269.3_Missense_Mutation_p.E481K|TCOF1_ENST00000377797.3_Missense_Mutation_p.E481K|TCOF1_ENST00000323668.7_Missense_Mutation_p.E404K|TCOF1_ENST00000451292.1_Missense_Mutation_p.E481K|TCOF1_ENST00000445265.2_Missense_Mutation_p.E404K|TCOF1_ENST00000513346.1_Missense_Mutation_p.E481K|TCOF1_ENST00000439160.2_Missense_Mutation_p.E481K			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	481					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCAGCGAGGAGTCAGACAG	0.627																																																	0													21.0	26.0	24.0					5																	149754679		2201	4299	6500	SO:0001583	missense	6949				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.1441G>A	5.37:g.149754679G>A	ENSP00000421655:p.Glu481Lys		A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.E481K	ENST00000504761.2	37	c.1441	CCDS54936.1	5	.	.	.	.	.	.	.	.	.	.	G	16.27	3.077165	0.55753	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	4.3	4.3	0.51218	Treacher Collins syndrome, treacle (1);	.	.	.	.	T	0.76126	0.3944	M	0.75777	2.31	0.28553	N	0.911501	D;P;D;P;P;D	0.57257	0.979;0.93;0.979;0.943;0.93;0.979	P;P;P;P;P;P	0.59703	0.862;0.689;0.862;0.793;0.689;0.785	T	0.68070	-0.5506	9	0.18276	T	0.48	-14.4185	12.6267	0.56634	0.0:0.0:1.0:0.0	.	481;404;481;481;404;481	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8;Q13428-5	.;.;.;TCOF_HUMAN;.;.	K	481;481;404;404;481;481;481;481;481	ENSP00000400939:E481K;ENSP00000367028:E481K;ENSP00000409944:E404K;ENSP00000325223:E404K;ENSP00000406888:E481K;ENSP00000377811:E481K;ENSP00000390717:E481K;ENSP00000421655:E481K;ENSP00000427484:E481K	ENSP00000325223:E404K	E	+	1	0	TCOF1	149734872	0.931000	0.31567	0.495000	0.27527	0.188000	0.23474	2.959000	0.49153	2.104000	0.64026	0.462000	0.41574	GAG	TCOF1	-	pfam_TCS_treacle		0.627	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	HGNC	protein_coding	OTTHUMT00000380552.1	G	NM_001008656		149754679	+1	no_errors	ENST00000451292	ensembl	human	known	70_37	missense	SNP	0.997	A
TCTEX1D4	343521	genome.wustl.edu	37	1	45271718	45271718	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:45271718G>A	ENST00000339355.2	-	1	629	c.623C>T	c.(622-624)tCg>tTg	p.S208L	BTBD19_ENST00000450269.1_5'Flank|BTBD19_ENST00000409335.2_5'Flank|TCTEX1D4_ENST00000372200.1_Missense_Mutation_p.S208L|BTBD19_ENST00000453418.1_5'Flank			Q5JR98	TC1D4_HUMAN	Tctex1 domain containing 4	208						acrosomal vesicle (GO:0001669)|axoneme (GO:0005930)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)	protein phosphatase 1 binding (GO:0008157)			pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)					CGCGAAGAGCGAGGTGTTGGT	0.667																																																	0													18.0	21.0	20.0					1																	45271718		2201	4297	6498	SO:0001583	missense	343521			BC092499	CCDS30699.1	1p34.1	2007-12-17				ENSG00000188396			32315	protein-coding gene	gene with protein product	"""novel Tctex-1 family domain-containing protein"""	611713				12477932	Standard	XM_006710614		Approved		uc001cmp.3	Q5JR98		ENST00000339355.2:c.623C>T	1.37:g.45271718G>A	ENSP00000341803:p.Ser208Leu			Missense_Mutation	SNP	pfam_Tctex	p.S208L	ENST00000339355.2	37	c.623	CCDS30699.1	1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420111	0.83559	.	.	ENSG00000188396	ENST00000339355;ENST00000372200	T;T	0.32988	1.43;1.43	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000010	T	0.64283	0.2584	M	0.92604	3.325	0.54753	D	0.999986	D	0.76494	0.999	D	0.68765	0.96	T	0.73232	-0.4048	10	0.66056	D	0.02	-0.589	15.9529	0.79859	0.0:0.0:1.0:0.0	.	208	Q5JR98	TC1D4_HUMAN	L	208	ENSP00000341803:S208L;ENSP00000361274:S208L	ENSP00000341803:S208L	S	-	2	0	TCTEX1D4	45044305	1.000000	0.71417	0.598000	0.28837	0.570000	0.35934	7.113000	0.77095	2.540000	0.85666	0.555000	0.69702	TCG	TCTEX1D4	-	pfam_Tctex		0.667	TCTEX1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTEX1D4	HGNC	protein_coding	OTTHUMT00000023733.1	G	NM_001013632		45271718	-1	no_errors	ENST00000339355	ensembl	human	known	70_37	missense	SNP	0.912	A
TEAD4	7004	genome.wustl.edu	37	12	3120170	3120170	+	Splice_Site	SNP	G	G	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr12:3120170G>T	ENST00000359864.2	+	4	417	c.227G>T	c.(226-228)gGt>gTt	p.G76V	TEAD4_ENST00000397122.2_5'UTR|TEAD4_ENST00000358409.2_Splice_Site_p.G76V	NM_003213.3	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4	76					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GTCTCTGCAGGTCGGAACGAG	0.637																																																	0													68.0	66.0	67.0					12																	3120170		2203	4300	6503	SO:0001630	splice_region_variant	7004			X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000359864.2:c.227-1G>T	12.37:g.3120170G>T			H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Missense_Mutation	SNP	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS	p.G76V	ENST00000359864.2	37	c.227	CCDS31729.1	12	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880182	0.72294	.	.	ENSG00000197905	ENST00000358409;ENST00000359864;ENST00000543035	T;T;T	0.74315	-0.83;-0.83;-0.83	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.89705	0.6792	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92397	0.5926	9	.	.	.	.	15.3222	0.74132	0.0:0.0:1.0:0.0	.	76	Q15561	TEAD4_HUMAN	V	76	ENSP00000351184:G76V;ENSP00000352926:G76V;ENSP00000444528:G76V	.	G	+	2	0	TEAD4	2990431	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	7.666000	0.83877	2.474000	0.83562	0.561000	0.74099	GGT	TEAD4	-	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS		0.637	TEAD4-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	TEAD4	HGNC	protein_coding	OTTHUMT00000398475.1	G	NM_003213	Missense_Mutation	3120170	+1	no_errors	ENST00000359864	ensembl	human	known	70_37	missense	SNP	1.000	T
TECPR2	9895	genome.wustl.edu	37	14	102873791	102873791	+	Silent	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr14:102873791G>C	ENST00000359520.7	+	3	562	c.336G>C	c.(334-336)ggG>ggC	p.G112G	TECPR2_ENST00000558678.1_Silent_p.G112G|TECPR2_ENST00000561228.1_3'UTR	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	112					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CATTGCCAGGGAGAAATAAAC	0.438																																																	0													100.0	93.0	96.0					14																	102873791		2203	4300	6503	SO:0001819	synonymous_variant	9895			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.336G>C	14.37:g.102873791G>C			A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Silent	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR	p.G112	ENST00000359520.7	37	c.336	CCDS32162.1	14																																																																																			TECPR2	-	superfamily_WD40_repeat_dom		0.438	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECPR2	HGNC	protein_coding	OTTHUMT00000415056.2	G	NM_014844		102873791	+1	no_errors	ENST00000359520	ensembl	human	known	70_37	silent	SNP	0.760	C
TF	7018	genome.wustl.edu	37	3	133478068	133478068	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:133478068G>A	ENST00000402696.3	+	9	1583	c.1098G>A	c.(1096-1098)ctG>ctA	p.L366L	TF_ENST00000264998.3_Silent_p.L239L	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	366	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	GGTGTGCGCTGAGCCACCACG	0.507																																																	0													167.0	163.0	165.0					3																	133478068		2203	4300	6503	SO:0001819	synonymous_variant	7018				CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1098G>A	3.37:g.133478068G>A			O43890|Q1HBA5|Q9NQB8|Q9UHV0	Silent	SNP	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam	p.L366	ENST00000402696.3	37	c.1098	CCDS3080.1	3																																																																																			TF	-	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin		0.507	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TF	HGNC	protein_coding	OTTHUMT00000317775.1	G	NM_001063		133478068	+1	no_errors	ENST00000402696	ensembl	human	known	70_37	silent	SNP	0.000	A
THOC5	8563	genome.wustl.edu	37	22	29908040	29908040	+	Silent	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr22:29908040C>T	ENST00000490103.1	-	18	1889	c.1767G>A	c.(1765-1767)gaG>gaA	p.E589E	CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397872.1_Silent_p.E589E|THOC5_ENST00000397871.1_Silent_p.E589E|THOC5_ENST00000397873.2_Silent_p.E589E	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	589					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGTTGGTTTTCTCCCCTTTCC	0.582																																																	0													139.0	102.0	114.0					22																	29908040		2203	4300	6503	SO:0001819	synonymous_variant	8563			AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.1767G>A	22.37:g.29908040C>T			O60839|Q9UPZ5	Silent	SNP	pfam_THO_Thoc5	p.E589	ENST00000490103.1	37	c.1767	CCDS13859.1	22																																																																																			THOC5	-	NULL		0.582	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC5	HGNC	protein_coding	OTTHUMT00000322097.1	C	NM_003678		29908040	-1	no_errors	ENST00000397871	ensembl	human	known	70_37	silent	SNP	1.000	T
THSD4	79875	genome.wustl.edu	37	15	72020903	72020903	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:72020903C>T	ENST00000355327.3	+	9	1507	c.1373C>T	c.(1372-1374)tCt>tTt	p.S458F	THSD4_ENST00000261862.6_Missense_Mutation_p.S458F|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.S98F			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	458					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGAAGTCGTTCTGGACGCTCC	0.498																																																	0													119.0	111.0	113.0					15																	72020903		1910	4109	6019	SO:0001583	missense	79875			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.1373C>T	15.37:g.72020903C>T	ENSP00000347484:p.Ser458Phe		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.S458F	ENST00000355327.3	37	c.1373	CCDS10238.2	15	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644816	0.87859	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.53857	0.6;0.6;0.6	5.17	5.17	0.71159	ADAM-TS Spacer 1 (1);	0.186411	0.45606	D	0.000357	T	0.70448	0.3225	M	0.69358	2.11	0.58432	D	0.999997	D;D;D;D	0.76494	0.999;0.966;0.997;0.984	D;P;D;P	0.75020	0.985;0.776;0.931;0.876	T	0.73119	-0.4083	10	0.62326	D	0.03	.	16.1685	0.81786	0.0:1.0:0.0:0.0	.	98;98;458;458	B4E1J6;B4DR13;Q6ZMP0-2;Q6ZMP0	.;.;.;THSD4_HUMAN	F	458;458;98	ENSP00000347484:S458F;ENSP00000261862:S458F;ENSP00000350413:S98F	ENSP00000261862:S458F	S	+	2	0	THSD4	69807957	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.637000	0.83313	2.404000	0.81709	0.462000	0.41574	TCT	THSD4	-	pfam_ADAM_spacer1		0.498	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THSD4	HGNC	protein_coding	OTTHUMT00000257253.2	C	NM_024817		72020903	+1	no_errors	ENST00000261862	ensembl	human	known	70_37	missense	SNP	0.999	T
TIAM1	7074	genome.wustl.edu	37	21	32598150	32598150	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr21:32598150G>C	ENST00000286827.3	-	8	2172	c.1701C>G	c.(1699-1701)atC>atG	p.I567M	TIAM1_ENST00000541036.1_Missense_Mutation_p.I567M|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	567					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCAGTTTTTTGATCTCTGATT	0.463																																																	0													164.0	146.0	152.0					21																	32598150		2203	4300	6503	SO:0001583	missense	7074				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1701C>G	21.37:g.32598150G>C	ENSP00000286827:p.Ile567Met		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.I567M	ENST00000286827.3	37	c.1701	CCDS13609.1	21	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082053	0.55861	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.30981	1.51;1.51	4.49	3.61	0.41365	.	0.000000	0.85682	D	0.000000	T	0.46870	0.1415	M	0.68593	2.085	0.53005	D	0.999967	D;D;D;D	0.76494	0.999;0.996;0.999;0.999	D;D;D;D	0.81914	0.995;0.967;0.989;0.994	T	0.45644	-0.9247	10	0.87932	D	0	.	4.8234	0.13403	0.1659:0.0:0.5455:0.2886	.	567;567;408;567	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	M	567;408;567	ENSP00000286827:I567M;ENSP00000441570:I567M	ENSP00000286827:I567M	I	-	3	3	TIAM1	31520021	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	1.208000	0.32345	1.113000	0.41760	0.650000	0.86243	ATC	TIAM1	-	NULL		0.463	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1	G	NM_003253		32598150	-1	no_errors	ENST00000286827	ensembl	human	known	70_37	missense	SNP	1.000	C
TIAM1	7074	genome.wustl.edu	37	21	32598201	32598201	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr21:32598201G>A	ENST00000286827.3	-	8	2121	c.1650C>T	c.(1648-1650)gtC>gtT	p.V550V	TIAM1_ENST00000541036.1_Silent_p.V550V|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	550					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GGTGCCTCGCGACCGCAGTGG	0.512																																																	0													118.0	108.0	112.0					21																	32598201		2203	4300	6503	SO:0001819	synonymous_variant	7074				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1650C>T	21.37:g.32598201G>A			B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.V550	ENST00000286827.3	37	c.1650	CCDS13609.1	21																																																																																			TIAM1	-	NULL		0.512	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1	G	NM_003253		32598201	-1	no_errors	ENST00000286827	ensembl	human	known	70_37	silent	SNP	0.698	A
TJP2	9414	genome.wustl.edu	37	9	71861671	71861671	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr9:71861671C>T	ENST00000377245.4	+	18	2840	c.2632C>T	c.(2632-2634)Cag>Tag	p.Q878*	TJP2_ENST00000539225.1_Nonsense_Mutation_p.Q909*|TJP2_ENST00000265384.7_Nonsense_Mutation_p.Q878*|TJP2_ENST00000535702.1_Nonsense_Mutation_p.Q882*|TJP2_ENST00000348208.4_Nonsense_Mutation_p.Q878*|TJP2_ENST00000453658.2_Nonsense_Mutation_p.Q855*|TJP2_ENST00000498204.1_3'UTR	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	878					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TATTCAGCATCAGCAAGGAGA	0.413																																																	0													115.0	111.0	113.0					9																	71861671		2203	4300	6503	SO:0001587	stop_gained	9414			L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.2632C>T	9.37:g.71861671C>T	ENSP00000366453:p.Gln878*		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Nonsense_Mutation	SNP	pfam_PDZ,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS2,prints_ZonOcculdens	p.Q909*	ENST00000377245.4	37	c.2725	CCDS6627.1	9	.	.	.	.	.	.	.	.	.	.	C	42	9.770635	0.99260	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1782	0.93612	0.0:1.0:0.0:0.0	.	.	.	.	X	855;878;878;878;882;909	.	ENSP00000265384:Q878X	Q	+	1	0	TJP2	71051491	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	7.416000	0.80143	2.838000	0.97847	0.655000	0.94253	CAG	TJP2	-	smart_Guanylate_kin/L-typ_Ca_channel		0.413	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP2	HGNC	protein_coding	OTTHUMT00000052572.2	C	NM_201629		71861671	+1	no_errors	ENST00000539225	ensembl	human	known	70_37	nonsense	SNP	1.000	T
TLN2	83660	genome.wustl.edu	37	15	63111741	63111741	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:63111741C>G	ENST00000561311.1	+	52	7028	c.6798C>G	c.(6796-6798)ttC>ttG	p.F2266L	TLN2_ENST00000306829.6_Missense_Mutation_p.F2266L			Q9Y4G6	TLN2_HUMAN	talin 2	2266			F -> L (in dbSNP:rs3816988).		cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CCCCAGAATTCAAGCAGCAGC	0.542																																																	0													84.0	86.0	86.0					15																	63111741		2203	4300	6503	SO:0001583	missense	83660			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.6798C>G	15.37:g.63111741C>G	ENSP00000453508:p.Phe2266Leu		A6NLB8	Missense_Mutation	SNP	pfam_Talin_cent,pfam_ILWEQ,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ	p.F2266L	ENST00000561311.1	37	c.6798	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744979	0.30865	.	.	ENSG00000171914	ENST00000306829	T	0.64618	-0.11	5.51	1.22	0.21188	.	0.187066	0.48286	N	0.000199	T	0.23532	0.0569	N	0.01003	-1.06	0.19575	N	0.999962	B	0.02656	0.0	B	0.01281	0.0	T	0.14783	-1.0460	10	0.22706	T	0.39	-6.6987	3.2007	0.06649	0.2822:0.3148:0.3187:0.0843	.	2266	Q9Y4G6	TLN2_HUMAN	L	2266	ENSP00000303476:F2266L	ENSP00000303476:F2266L	F	+	3	2	TLN2	60898794	0.995000	0.38212	1.000000	0.80357	0.983000	0.72400	0.446000	0.21694	0.689000	0.31550	0.655000	0.94253	TTC	TLN2	-	NULL		0.542	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	HGNC	protein_coding	OTTHUMT00000257878.2	C			63111741	+1	no_errors	ENST00000306829	ensembl	human	known	70_37	missense	SNP	0.999	G
TMEM161B	153396	genome.wustl.edu	37	5	87498893	87498893	+	Splice_Site	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:87498893C>T	ENST00000296595.6	-	9	925		c.e9-1		TMEM161B_ENST00000506536.1_Splice_Site|TMEM161B_ENST00000512429.1_Splice_Site|TMEM161B_ENST00000511218.1_Splice_Site|TMEM161B_ENST00000514135.1_Splice_Site|TMEM161B_ENST00000509387.1_Splice_Site	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B							integral component of membrane (GO:0016021)				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AAGTAAAGTTCTGAAAGTACG	0.368																																																	0													99.0	91.0	94.0					5																	87498893		2203	4300	6503	SO:0001630	splice_region_variant	153396			BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.801-1G>A	5.37:g.87498893C>T			Q5CZH7|Q6UWQ6	Splice_Site	SNP	-	e9-1	ENST00000296595.6	37	c.801-1	CCDS4065.1	5	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214290	0.79352	.	.	ENSG00000164180	ENST00000514135;ENST00000296595;ENST00000506536;ENST00000511218;ENST00000512429;ENST00000443393;ENST00000509387	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1101	0.72349	0.0:0.9304:0.0:0.0696	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM161B	87534649	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.794000	0.85869	2.712000	0.92718	0.650000	0.86243	.	TMEM161B	-	-		0.368	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM161B	HGNC	protein_coding	OTTHUMT00000254094.1	C	NM_153354	Intron	87498893	-1	no_errors	ENST00000296595	ensembl	human	known	70_37	splice_site	SNP	1.000	T
TMEM196	256130	genome.wustl.edu	37	7	19812188	19812188	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:19812188G>A	ENST00000405764.3	-	1	828	c.132C>T	c.(130-132)ctC>ctT	p.L44L	TMEM196_ENST00000405844.1_Silent_p.L44L|TMEM196_ENST00000422233.1_Intron|TMEM196_ENST00000493519.1_Intron|TMEM196_ENST00000433641.1_Intron	NM_152774.3	NP_689987.3	Q5HYL7	TM196_HUMAN	transmembrane protein 196	44						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(4)	6						ACGAGTCTCCGAGCTGCGGCT	0.617																																																	0													24.0	34.0	31.0					7																	19812188		692	1591	2283	SO:0001819	synonymous_variant	256130				CCDS34607.2	7p15.3	2007-11-21			ENSG00000173452	ENSG00000173452			22431	protein-coding gene	gene with protein product							Standard	NM_152774		Approved	MGC42090	uc011jyg.2	Q5HYL7	OTTHUMG00000152504	ENST00000405764.3:c.132C>T	7.37:g.19812188G>A			Q8N6I6	Silent	SNP	NULL	p.L44	ENST00000405764.3	37	c.132	CCDS34607.2	7																																																																																			TMEM196	-	NULL		0.617	TMEM196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM196	HGNC	protein_coding	OTTHUMT00000326499.1	G	NM_152774		19812188	-1	no_errors	ENST00000405764	ensembl	human	known	70_37	silent	SNP	1.000	A
TMEM217	221468	genome.wustl.edu	37	6	37180457	37180457	+	3'UTR	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:37180457C>T	ENST00000336655.2	-	0	1045				TMEM217_ENST00000356757.2_3'UTR|TMEM217_ENST00000497775.1_5'UTR	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217							integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						TTGATGAGCTCGTAAGTGATG	0.453																																																	0																																										SO:0001624	3_prime_UTR_variant	221468				CCDS4831.1, CCDS69102.1	6p21.31-p21.2	2008-10-20	2008-07-07	2008-07-07	ENSG00000172738	ENSG00000172738			21238	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 128"""	C6orf128			Standard	NM_001162900		Approved	dJ355M6.2	uc010jws.3	Q8N7C4	OTTHUMG00000014618	ENST00000336655.2:c.*316G>A	6.37:g.37180457C>T			Q8TC54	RNA	SNP	-	NULL	ENST00000336655.2	37	NULL	CCDS4831.1	6																																																																																			TMEM217	-	-		0.453	TMEM217-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM217	HGNC	protein_coding	OTTHUMT00000357542.1	C	NM_145316		37180457	-1	no_errors	ENST00000478262	ensembl	human	known	70_37	rna	SNP	0.780	T
TMEM39B	55116	genome.wustl.edu	37	1	32540602	32540602	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:32540602G>T	ENST00000336294.5	+	2	201	c.55G>T	c.(55-57)Gag>Tag	p.E19*	TMEM39B_ENST00000487305.1_3'UTR|RP11-277A4.4_ENST00000366152.3_RNA|TMEM39B_ENST00000373634.4_5'UTR|TMEM39B_ENST00000456834.2_Nonsense_Mutation_p.E19*|TMEM39B_ENST00000427288.1_5'UTR	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	19						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TCCGCTCTGTGAGCCGGGATC	0.557																																																	0													47.0	52.0	51.0					1																	32540602		692	1591	2283	SO:0001587	stop_gained	55116			AL136695	CCDS351.2	1p35.1	2008-02-05			ENSG00000121775	ENSG00000121775			25510	protein-coding gene	gene with protein product						12477932	Standard	NM_018056		Approved	FLJ10315	uc010ogv.2	Q9GZU3	OTTHUMG00000004020	ENST00000336294.5:c.55G>T	1.37:g.32540602G>T	ENSP00000338165:p.Glu19*		B4DKN8|B4DQE6|B4DTN8|D3DPP4|Q6IA44	Nonsense_Mutation	SNP	pfam_Uncharacterised_TMEM39	p.E19*	ENST00000336294.5	37	c.55	CCDS351.2	1	.	.	.	.	.	.	.	.	.	.	G	36	5.878723	0.97055	.	.	ENSG00000121775	ENST00000336294;ENST00000373633;ENST00000438825;ENST00000456834	.	.	.	4.81	4.81	0.61882	.	0.113720	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-18.0727	18.2567	0.90022	0.0:0.0:1.0:0.0	.	.	.	.	X	19	.	ENSP00000338165:E19X	E	+	1	0	TMEM39B	32313189	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.733000	0.84916	2.384000	0.81235	0.655000	0.94253	GAG	TMEM39B	-	NULL		0.557	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM39B	HGNC	protein_coding	OTTHUMT00000011489.2	G	NM_018056		32540602	+1	no_errors	ENST00000336294	ensembl	human	known	70_37	nonsense	SNP	1.000	T
TMEM54	113452	genome.wustl.edu	37	1	33360407	33360407	+	Nonstop_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:33360407C>G	ENST00000373463.3	-	6	787	c.668G>C	c.(667-669)tGa>tCa	p.*223S	TMEM54_ENST00000475208.1_5'Flank|TMEM54_ENST00000329151.5_Nonstop_Mutation_p.*170S	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	0						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CATCATCTCTCAGAGGGTCAG	0.632																																																	0													70.0	68.0	69.0					1																	33360407		2203	4300	6503	SO:0001578	stop_lost	113452				CCDS371.1	1p35-p34	2008-02-05			ENSG00000121900	ENSG00000121900			24143	protein-coding gene	gene with protein product						9500206	Standard	NM_033504		Approved	CAC-1	uc001bwi.1	Q969K7	OTTHUMG00000004016	ENST00000373463.3:c.668G>C	1.37:g.33360407C>G			Q6UV18|Q8IVD0|Q9UM12	Nonstop_Mutation	SNP	pfam_Beta-casein-like	p.*223S	ENST00000373463.3	37	c.668	CCDS371.1	1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118678	0.37436	.	.	ENSG00000121900	ENST00000373463;ENST00000329151	.	.	.	5.2	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0772	0.36529	0.0:0.9013:0.0:0.0987	.	.	.	.	S	223;170	.	.	X	-	2	2	TMEM54	33132994	0.982000	0.34865	0.997000	0.53966	0.377000	0.30045	1.934000	0.40163	2.614000	0.88457	0.650000	0.86243	TGA	TMEM54	-	NULL		0.632	TMEM54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM54	HGNC	protein_coding	OTTHUMT00000011474.1	C	NM_033504		33360407	-1	no_errors	ENST00000373463	ensembl	human	known	70_37	nonstop	SNP	0.997	G
TMX1	81542	genome.wustl.edu	37	14	51716416	51716416	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr14:51716416G>A	ENST00000457354.2	+	7	722	c.597G>A	c.(595-597)atG>atA	p.M199I		NM_030755.4	NP_110382.3	Q9H3N1	TMX1_HUMAN	thioredoxin-related transmembrane protein 1	199					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide isomerase activity (GO:0003756)			endometrium(2)|large_intestine(2)|urinary_tract(1)	5						TACAGTGTATGATATTTGTGG	0.294																																																	0													102.0	91.0	95.0					14																	51716416		1815	4075	5890	SO:0001583	missense	81542			AB048246	CCDS41953.1	14q22.1	2011-10-19	2009-02-23	2009-02-23				"""Protein disulfide isomerases"""	15487	protein-coding gene	gene with protein product	"""thioredoxin-related transmembrane protein"", ""protein disulfide isomerase family A, member 11"""	610527	"""thioredoxin domain-containing"", ""thioredoxin domain containing"", ""thioredoxin domain containing 1"""	TXNDC, TXNDC1		11152479	Standard	NM_030755		Approved	TMX, PDIA11	uc001wza.4	Q9H3N1		ENST00000457354.2:c.597G>A	14.37:g.51716416G>A	ENSP00000393316:p.Met199Ile		B2R7A4|Q8N487|Q8NBN5|Q9Y4T6	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.M199I	ENST00000457354.2	37	c.597	CCDS41953.1	14	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293947	0.40594	.	.	ENSG00000139921	ENST00000457354	T	0.53640	0.61	5.63	5.63	0.86233	.	0.127018	0.64402	D	0.000001	T	0.43433	0.1247	N	0.17474	0.49	0.40973	D	0.984717	D;B	0.56968	0.978;0.024	P;B	0.53861	0.736;0.014	T	0.23048	-1.0199	10	0.27785	T	0.31	-23.6826	13.5735	0.61860	0.0:0.0:0.8445:0.1555	.	115;199	B4DZX7;Q9H3N1	.;TMX1_HUMAN	I	199	ENSP00000393316:M199I	ENSP00000393316:M199I	M	+	3	0	TMX1	50786166	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.507000	0.66999	2.808000	0.96608	0.655000	0.94253	ATG	TMX1	-	NULL		0.294	TMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMX1	HGNC	protein_coding	OTTHUMT00000411206.1	G	NM_030755		51716416	+1	no_errors	ENST00000457354	ensembl	human	known	70_37	missense	SNP	1.000	A
TNXB	7148	genome.wustl.edu	37	6	32023869	32023869	+	Silent	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:32023869C>T	ENST00000375244.3	-	24	8427	c.8226G>A	c.(8224-8226)ctG>ctA	p.L2742L	TNXB_ENST00000375247.2_Silent_p.L2742L			P22105	TENX_HUMAN	tenascin XB	2800	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGTCACTGTCAGCTCCCCCA	0.637																																																	0													50.0	56.0	54.0					6																	32023869		1221	2523	3744	SO:0001819	synonymous_variant	7148			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.8226G>A	6.37:g.32023869C>T			P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.L2742	ENST00000375244.3	37	c.8226		6																																																																																			TNXB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.637	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	C	NM_019105		32023869	-1	no_errors	ENST00000375247	ensembl	human	known	70_37	silent	SNP	0.997	T
TPRG1	285386	genome.wustl.edu	37	3	189033328	189033328	+	Intron	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:189033328G>A	ENST00000345063.3	+	5	800				TPRG1_ENST00000433971.1_Intron	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1							cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		ACCCAGAACTGATGAATAGCA	0.408																																																	0																																										SO:0001627	intron_variant	285386			AK125682	CCDS3292.1	3q28	2008-02-04	2008-01-16	2008-01-16	ENSG00000188001	ENSG00000188001			24759	protein-coding gene	gene with protein product			"""family with sequence similarity 79, member B"""	FAM79B			Standard	NM_198485		Approved	FLJ41238, FLJ43694	uc003frw.2	Q6ZUI0	OTTHUMG00000156321	ENST00000345063.3:c.633+5000G>A	3.37:g.189033328G>A				RNA	SNP	-	NULL	ENST00000345063.3	37	NULL	CCDS3292.1	3																																																																																			TPRG1	-	-		0.408	TPRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPRG1	HGNC	protein_coding	OTTHUMT00000343931.1	G	NM_198485		189033328	+1	no_errors	ENST00000481307	ensembl	human	known	70_37	rna	SNP	0.001	A
TREM1	54210	genome.wustl.edu	37	6	41250403	41250403	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:41250403C>G	ENST00000244709.4	-	2	199	c.136G>C	c.(136-138)Gag>Cag	p.E46Q	TREM1_ENST00000589614.1_Missense_Mutation_p.E46Q|TREM1_ENST00000591620.1_Missense_Mutation_p.E46Q|TREM1_ENST00000334475.6_Missense_Mutation_p.E46Q	NM_018643.3	NP_061113.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	46	Ig-like V-type.				blood coagulation (GO:0007596)|chemokine metabolic process (GO:0050755)|cytokine secretion involved in immune response (GO:0002374)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					GCAAACTTCTCTAGCGTGTAG	0.483																																																	0													131.0	132.0	132.0					6																	41250403		2203	4300	6503	SO:0001583	missense	54210			AF196329	CCDS4854.1, CCDS56427.1, CCDS59499.1	6p21.1	2013-01-11			ENSG00000124731	ENSG00000124731		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17760	protein-coding gene	gene with protein product		605085				11922939, 10799849	Standard	NM_018643		Approved	TREM-1, CD354	uc003oqf.2	Q9NP99	OTTHUMG00000014674	ENST00000244709.4:c.136G>C	6.37:g.41250403C>G	ENSP00000244709:p.Glu46Gln		B4DWG2|K7EJW1|Q53FL8|Q5T2C9|Q86YU1	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub	p.E46Q	ENST00000244709.4	37	c.136	CCDS4854.1	6	.	.	.	.	.	.	.	.	.	.	C	0.128	-1.117371	0.01799	.	.	ENSG00000124731	ENST00000244709;ENST00000334475	T;T	0.21734	1.99;1.99	4.37	-8.74	0.00838	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	4.542010	0.00357	N	0.000030	T	0.02119	0.0066	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.10753	-1.0616	10	0.22706	T	0.39	4.2863	2.4721	0.04566	0.198:0.3787:0.0971:0.3262	.	46;46	Q9NP99-2;Q9NP99	.;TREM1_HUMAN	Q	46	ENSP00000244709:E46Q;ENSP00000334284:E46Q	ENSP00000244709:E46Q	E	-	1	0	TREM1	41358381	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-10.926000	0.00004	-4.571000	0.00042	-1.569000	0.00873	GAG	TREM1	-	pfam_Ig_V-set,smart_Ig_sub		0.483	TREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TREM1	HGNC	protein_coding	OTTHUMT00000040505.2	C	NM_018643		41250403	-1	no_errors	ENST00000244709	ensembl	human	known	70_37	missense	SNP	0.000	G
TRIOBP	11078	genome.wustl.edu	37	22	38130627	38130627	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr22:38130627G>A	ENST00000406386.3	+	9	4539	c.4284G>A	c.(4282-4284)caG>caA	p.Q1428Q		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1428					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGGTGTGGCAGAGTCAGGAGG	0.667																																																	0													6.0	8.0	7.0					22																	38130627		1866	4057	5923	SO:0001819	synonymous_variant	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.4284G>A	22.37:g.38130627G>A			B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Q1428	ENST00000406386.3	37	c.4284	CCDS43015.1	22																																																																																			TRIOBP	-	NULL		0.667	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	G			38130627	+1	no_errors	ENST00000406386	ensembl	human	known	70_37	silent	SNP	0.001	A
TRIOBP	11078	genome.wustl.edu	37	22	38130869	38130869	+	Missense_Mutation	SNP	G	G	C	rs560895056		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr22:38130869G>C	ENST00000406386.3	+	9	4781	c.4526G>C	c.(4525-4527)aGa>aCa	p.R1509T		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1509					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CTAGGAAAGAGAAGCCCACTC	0.647																																																	0													26.0	30.0	29.0					22																	38130869		1877	4089	5966	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.4526G>C	22.37:g.38130869G>C	ENSP00000384312:p.Arg1509Thr		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R1509T	ENST00000406386.3	37	c.4526	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	G	3.632	-0.075430	0.07184	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.18502	2.21	4.57	2.42	0.29668	.	.	.	.	.	T	0.07548	0.0190	N	0.08118	0	0.43179	D	0.994993	B	0.20052	0.041	B	0.19391	0.025	T	0.24512	-1.0158	9	0.19590	T	0.45	.	7.2874	0.26346	0.2073:0.0:0.7927:0.0	.	1509	Q9H2D6	TARA_HUMAN	T	1509;1470	ENSP00000384312:R1509T	ENSP00000384312:R1509T	R	+	2	0	TRIOBP	36460815	0.703000	0.27826	0.967000	0.41034	0.022000	0.10575	0.749000	0.26320	1.144000	0.42321	0.514000	0.50259	AGA	TRIOBP	-	NULL		0.647	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	G			38130869	+1	no_errors	ENST00000406386	ensembl	human	known	70_37	missense	SNP	0.734	C
TRIOBP	11078	genome.wustl.edu	37	22	38131387	38131387	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr22:38131387G>A	ENST00000406386.3	+	9	5299	c.5044G>A	c.(5044-5046)Gag>Aag	p.E1682K		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1682					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGCAGGCCTGGAGCAGACGGG	0.652											OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													20.0	23.0	22.0					22																	38131387		1952	4135	6087	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.5044G>A	22.37:g.38131387G>A	ENSP00000384312:p.Glu1682Lys	875	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E1682K	ENST00000406386.3	37	c.5044	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136059	0.37728	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.22945	1.93	5.0	3.95	0.45737	.	.	.	.	.	T	0.18341	0.0440	L	0.27053	0.805	0.80722	D	1	P	0.37061	0.58	B	0.35114	0.196	T	0.04242	-1.0966	9	0.56958	D	0.05	.	11.5054	0.50463	0.0:0.1818:0.8182:0.0	.	1682	Q9H2D6	TARA_HUMAN	K	1682;1643	ENSP00000384312:E1682K	ENSP00000384312:E1682K	E	+	1	0	TRIOBP	36461333	0.998000	0.40836	0.944000	0.38274	0.014000	0.08584	1.188000	0.32102	1.181000	0.42912	0.460000	0.39030	GAG	TRIOBP	-	NULL		0.652	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	G			38131387	+1	no_errors	ENST00000406386	ensembl	human	known	70_37	missense	SNP	0.956	A
TRIOBP	11078	genome.wustl.edu	37	22	38150912	38150912	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr22:38150912C>G	ENST00000406386.3	+	13	5663	c.5408C>G	c.(5407-5409)tCt>tGt	p.S1803C	TRIOBP_ENST00000403663.2_Missense_Mutation_p.S90C|TRIOBP_ENST00000407319.2_Missense_Mutation_p.S90C	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1803	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ACCACCACCTCTACTTCGCAG	0.517																																																	0													182.0	137.0	152.0					22																	38150912		2203	4300	6503	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.5408C>G	22.37:g.38150912C>G	ENSP00000384312:p.Ser1803Cys		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S1803C	ENST00000406386.3	37	c.5408	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	C	11.70	1.716917	0.30413	.	.	ENSG00000100106	ENST00000406386;ENST00000407319;ENST00000403663;ENST00000418339;ENST00000452519;ENST00000417857	D;D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41;-3.41	4.69	-0.0141	0.13982	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	D	0.88503	0.6454	L	0.53671	1.685	0.09310	N	1	B;B;B	0.15473	0.001;0.003;0.013	B;B;B	0.17098	0.002;0.003;0.017	T	0.77792	-0.2455	9	0.52906	T	0.07	.	1.9286	0.03322	0.1128:0.2679:0.3268:0.2924	.	90;90;1803	F8W6V6;F2Z2W0;Q9H2D6	.;.;TARA_HUMAN	C	1803;90;90;49;19;19	ENSP00000384312:S1803C;ENSP00000383913:S90C;ENSP00000386026:S90C;ENSP00000396946:S49C;ENSP00000407542:S19C;ENSP00000387881:S19C	ENSP00000386026:S90C	S	+	2	0	TRIOBP	36480858	0.000000	0.05858	0.003000	0.11579	0.121000	0.20230	0.366000	0.20365	0.050000	0.15949	0.655000	0.94253	TCT	TRIOBP	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.517	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	C			38150912	+1	no_errors	ENST00000406386	ensembl	human	known	70_37	missense	SNP	0.000	G
TRIT1	54802	genome.wustl.edu	37	1	40315816	40315816	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:40315816G>A	ENST00000316891.5	-	5	692	c.678C>T	c.(676-678)atC>atT	p.I226I	TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000545233.1_5'UTR|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537440.1_5'UTR|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000441669.2_Silent_p.I146I|TRIT1_ENST00000372818.1_Silent_p.I226I	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	226					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GAAGCCAAAGGATGCAAGGGT	0.458																																																	0													100.0	91.0	94.0					1																	40315816		2203	4300	6503	SO:0001819	synonymous_variant	54802			AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.678C>T	1.37:g.40315816G>A			A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Silent	SNP	pfam_IPPT,pfam_Isopentenyl_transferase,pfam_Znf_C2H2_jaz,smart_Znf_U1,tigrfam_tRNA_delta_PyrP_Trfase	p.I226	ENST00000316891.5	37	c.678	CCDS30681.1	1																																																																																			TRIT1	-	pfam_IPPT,tigrfam_tRNA_delta_PyrP_Trfase		0.458	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TRIT1	HGNC	protein_coding	OTTHUMT00000025627.2	G	NM_017646		40315816	-1	no_errors	ENST00000316891	ensembl	human	known	70_37	silent	SNP	1.000	A
TRMT1	55621	genome.wustl.edu	37	19	13227100	13227100	+	Silent	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:13227100C>T	ENST00000592062.1	-	3	684	c.114G>A	c.(112-114)gaG>gaA	p.E38E	NACC1_ENST00000292431.4_5'Flank|TRMT1_ENST00000592892.1_5'UTR|TRMT1_ENST00000357720.4_Silent_p.E38E|TRMT1_ENST00000221504.8_Silent_p.E38E|TRMT1_ENST00000437766.1_Silent_p.E38E			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	38							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CGGTGCCGTTCTCCATCGCTG	0.617																																																	0													72.0	73.0	73.0					19																	13227100		2203	4300	6503	SO:0001819	synonymous_variant	55621			AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.114G>A	19.37:g.13227100C>T			O76103|Q548Y5|Q8WVA6	Silent	SNP	pfam_TRM1,pfam_Znf_CCCH,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_CCCH,tigrfam_TRM1	p.E38	ENST00000592062.1	37	c.114	CCDS12293.1	19																																																																																			TRMT1	-	NULL		0.617	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT1	HGNC	protein_coding	OTTHUMT00000452780.2	C	NM_017722		13227100	-1	no_errors	ENST00000357720	ensembl	human	known	70_37	silent	SNP	1.000	T
TRPC4	7223	genome.wustl.edu	37	13	38266158	38266158	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr13:38266158C>T	ENST00000379705.3	-	4	2069	c.1212G>A	c.(1210-1212)tgG>tgA	p.W404*	TRPC4_ENST00000426868.2_Nonsense_Mutation_p.W404*|TRPC4_ENST00000447043.1_Nonsense_Mutation_p.W404*|TRPC4_ENST00000358477.2_Nonsense_Mutation_p.W404*|TRPC4_ENST00000355779.2_Nonsense_Mutation_p.W404*|TRPC4_ENST00000379679.1_Nonsense_Mutation_p.W231*|TRPC4_ENST00000338947.5_Nonsense_Mutation_p.W231*|TRPC4_ENST00000379681.3_Nonsense_Mutation_p.W404*|TRPC4_ENST00000379673.2_Nonsense_Mutation_p.W404*			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	404					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GTAATATCATCCACTCGACGA	0.423																																																	0													89.0	81.0	84.0					13																	38266158		2203	4300	6503	SO:0001587	stop_gained	7223			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1212G>A	13.37:g.38266158C>T	ENSP00000369027:p.Trp404*		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.W404*	ENST00000379705.3	37	c.1212	CCDS9365.1	13	.	.	.	.	.	.	.	.	.	.	C	40	8.478450	0.98829	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.674	20.1931	0.98233	0.0:1.0:0.0:0.0	.	.	.	.	X	404;404;231;231;404;404;404;404;404	.	ENSP00000342580:W231X	W	-	3	0	TRPC4	37164158	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.771000	0.95319	0.563000	0.77884	TGG	TRPC4	-	tigrfam_TRP_channel		0.423	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4	HGNC	protein_coding	OTTHUMT00000044574.2	C	NM_003306		38266158	-1	no_errors	ENST00000379681	ensembl	human	known	70_37	nonsense	SNP	1.000	T
TRPM6	140803	genome.wustl.edu	37	9	77435249	77435249	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr9:77435249G>A	ENST00000360774.1	-	9	1342	c.1105C>T	c.(1105-1107)Cta>Tta	p.L369L	TRPM6_ENST00000376872.3_Silent_p.L369L|TRPM6_ENST00000449912.2_Silent_p.L364L|TRPM6_ENST00000451710.3_Silent_p.L369L|TRPM6_ENST00000361255.3_Silent_p.L364L|TRPM6_ENST00000376871.3_Silent_p.L369L|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000376864.4_Silent_p.L369L	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	369					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CACTCCATTAGAATTTGGAAA	0.373																																																	0													134.0	123.0	127.0					9																	77435249		2203	4300	6503	SO:0001819	synonymous_variant	140803			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1105C>T	9.37:g.77435249G>A			Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.L369	ENST00000360774.1	37	c.1105	CCDS6647.1	9																																																																																			TRPM6	-	NULL		0.373	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	G	NM_017662		77435249	-1	no_errors	ENST00000451710	ensembl	human	known	70_37	silent	SNP	1.000	A
TSPAN7	7102	genome.wustl.edu	37	X	38535082	38535082	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:38535082C>G	ENST00000378482.2	+	5	742	c.565C>G	c.(565-567)Ctg>Gtg	p.L189V	TM4SF2_ENST00000465127.1_Missense_Mutation_p.L219V|TSPAN7_ENST00000545599.1_Missense_Mutation_p.L163V|TSPAN7_ENST00000422612.2_Missense_Mutation_p.L215V|TSPAN7_ENST00000286824.6_Missense_Mutation_p.L206V	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	189					viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						TCTACACAATCTGACTGTGGC	0.537																																																	0													58.0	47.0	51.0					X																	38535082		2202	4300	6502	SO:0001583	missense	7102			D29808	CCDS14248.1	Xp11.4	2013-02-14	2005-03-21	2005-03-21	ENSG00000156298	ENSG00000156298		"""CD molecules"", ""Tetraspanins"""	11854	protein-coding gene	gene with protein product		300096	"""transmembrane 4 superfamily member 2"", ""mental retardation, X-linked 58"""	MXS1, TM4SF2, MRX58		12070254	Standard	NM_004615		Approved	DXS1692E, TALLA-1, A15, CD231	uc004deg.4	P41732	OTTHUMG00000024090	ENST00000378482.2:c.565C>G	X.37:g.38535082C>G	ENSP00000367743:p.Leu189Val		B2R5W7|D3DWB1|Q8WVG5|Q9UEY9	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.L215V	ENST00000378482.2	37	c.643	CCDS14248.1	X	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049277	0.36181	.	.	ENSG00000250349;ENSG00000156298;ENSG00000156298;ENSG00000156298;ENSG00000156298	ENST00000465127;ENST00000378482;ENST00000422612;ENST00000286824;ENST00000545599	T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22	5.91	4.98	0.66077	Tetraspanin, EC2 domain (1);	0.830865	0.10659	N	0.648947	T	0.72128	0.3422	L	0.47190	1.495	0.30479	N	0.772579	B;B;B	0.18741	0.004;0.03;0.002	B;B;B	0.24701	0.018;0.055;0.011	T	0.64550	-0.6381	9	.	.	.	.	10.6635	0.45717	0.4562:0.5438:0.0:0.0	.	206;215;189	B4DDG0;B4DEA5;P41732	.;.;TSN7_HUMAN	V	219;189;215;206;163	ENSP00000417050:L219V;ENSP00000367743:L189V;ENSP00000388954:L215V;ENSP00000286824:L206V;ENSP00000441540:L163V	.	L	+	1	2	RP5-972B16.2;TSPAN7	38420026	0.990000	0.36364	1.000000	0.80357	0.977000	0.68977	2.144000	0.42197	2.504000	0.84457	0.600000	0.82982	CTG	TSPAN7	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2		0.537	TSPAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN7	HGNC	protein_coding	OTTHUMT00000356412.1	C			38535082	+1	no_errors	ENST00000422612	ensembl	human	known	70_37	missense	SNP	1.000	G
TTC25	83538	genome.wustl.edu	37	17	40094955	40094955	+	RNA	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:40094955G>A	ENST00000591658.1	+	0	839							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				TGATGCAAGAGAAATGGCTGC	0.547																																																	0													132.0	137.0	135.0					17																	40094955		2044	4183	6227			83538			AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"""Tetratricopeptide (TTC) repeat domain containing"""	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40094955G>A			Q6NX40|Q6PJ04|Q9H0K5	RNA	SNP	-	NULL	ENST00000591658.1	37	NULL		17																																																																																			TTC25	-	-		0.547	TTC25-001	KNOWN	basic	processed_transcript	TTC25	HGNC	processed_transcript	OTTHUMT00000449237.1	G	NM_031421		40094955	+1	no_errors	ENST00000591658	ensembl	human	known	70_37	rna	SNP	0.990	A
TTLL5	23093	genome.wustl.edu	37	14	76135834	76135835	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr14:76135834_76135835insA	ENST00000298832.9	+	3	355_356	c.150_151insA	c.(151-153)acafs	p.T51fs	TTLL5_ENST00000286650.5_Frame_Shift_Ins_p.T51fs|TTLL5_ENST00000557636.1_Frame_Shift_Ins_p.T51fs|TTLL5_ENST00000556977.1_Frame_Shift_Ins_p.T51fs	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	51					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		ACGCTATTCTTACAAAGGACAA	0.46																																																	0																																										SO:0001589	frameshift_variant	23093			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.151dupA	14.37:g.76135835_76135835dupA	ENSP00000298832:p.Thr51fs		B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Frame_Shift_Ins	INS	pfam_Tub_tyr_ligase	p.T50fs	ENST00000298832.9	37	c.150_151	CCDS32124.1	14																																																																																			TTLL5	-	NULL		0.460	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL5	HGNC	protein_coding	OTTHUMT00000414453.1	-	NM_015072		76135835	+1	no_errors	ENST00000298832	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A
TTN	7273	genome.wustl.edu	37	2	179393069	179393069	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:179393069C>T	ENST00000591111.1	-	311	102610	c.102386G>A	c.(102385-102387)gGa>gAa	p.G34129E	TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G35770E|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G33202E|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G26705E|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G26830E|TTN_ENST00000342175.6_Missense_Mutation_p.G26897E|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591867.1_RNA			Q8WZ42	TITIN_HUMAN	titin	34129	Ig-like 151.|Ser-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTGTACTTTCCACTGTCGCT	0.418																																																	0													149.0	139.0	142.0					2																	179393069		1916	4124	6040	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.102386G>A	2.37:g.179393069C>T	ENSP00000465570:p.Gly34129Glu		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.G33202E	ENST00000591111.1	37	c.99605		2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067334	0.76301	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.25	5.25	0.73442	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.93733	0.7997	H	0.99299	4.505	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999	D	0.96306	0.9225	9	0.87932	D	0	.	19.2035	0.93720	0.0:1.0:0.0:0.0	.	26705;26830;26897;34129;33202	D3DPF9;E7EQE6;E7ET18;Q8WZ42;A6NKB1	.;.;.;TITIN_HUMAN;.	E	33202;26705;26897;26830;26702	ENSP00000343764:G33202E;ENSP00000434586:G26705E;ENSP00000340554:G26897E;ENSP00000352154:G26830E	ENSP00000340554:G26897E	G	-	2	0	TTN	179101315	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.583000	0.82559	2.603000	0.88011	0.555000	0.69702	GGA	TTN	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179393069	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179407639	179407639	+	Silent	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:179407639C>T	ENST00000591111.1	-	298	92243	c.92019G>A	c.(92017-92019)aaG>aaA	p.K30673K	TTN_ENST00000589042.1_Silent_p.K32314K|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Silent_p.K29746K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Silent_p.K23249K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Silent_p.K23374K|TTN_ENST00000342175.6_Silent_p.K23441K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30673	Ig-like 138.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGGATGGTCTTCTGAGGCA	0.433																																																	0													264.0	264.0	264.0					2																	179407639		1970	4140	6110	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.92019G>A	2.37:g.179407639C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.K29746	ENST00000591111.1	37	c.89238		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179407639	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	1.000	T
TUBD1	51174	genome.wustl.edu	37	17	57941134	57941134	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:57941134G>A	ENST00000592426.1	-	7	1150	c.1150C>T	c.(1150-1152)Cgg>Tgg	p.R384W	TUBD1_ENST00000376094.4_Missense_Mutation_p.R282W|TUBD1_ENST00000394239.3_Intron|TUBD1_ENST00000346141.6_Missense_Mutation_p.R130W|TUBD1_ENST00000325752.3_Missense_Mutation_p.R384W|TUBD1_ENST00000340993.6_Missense_Mutation_p.R329W|TUBD1_ENST00000539018.1_Missense_Mutation_p.R168W			Q9UJT1	TBD_HUMAN	tubulin, delta 1	384					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	CTAAAGGCCCGCTGGGTTTTC	0.423																																																	0													71.0	71.0	71.0					17																	57941134		2203	4300	6503	SO:0001583	missense	51174			AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"""Tubulins"""	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.1150C>T	17.37:g.57941134G>A	ENSP00000468518:p.Arg384Trp		B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Tubulin,prints_Epsilon_tubulin	p.R384W	ENST00000592426.1	37	c.1150	CCDS11620.1	17	.	.	.	.	.	.	.	.	.	.	g	18.78	3.697103	0.68386	.	.	ENSG00000108423	ENST00000325752;ENST00000340993;ENST00000346141;ENST00000376094;ENST00000539018	T;T;T;T	0.81163	-1.21;-0.9;-1.46;-0.99	5.59	2.39	0.29439	Tubulin/FtsZ, C-terminal (1);	0.370055	0.29529	N	0.011897	D	0.88258	0.6388	M	0.75447	2.3	0.38669	D	0.952253	D;D;D;D;D	0.89917	1.0;0.999;0.996;1.0;0.998	D;P;P;D;P	0.70016	0.967;0.836;0.625;0.921;0.776	D	0.89616	0.3845	10	0.66056	D	0.02	-0.6802	15.2313	0.73390	0.0:0.0:0.3458:0.6542	.	130;329;282;329;384	Q9UJT1-3;Q5KU37;E9PCQ8;Q9UJT1-2;Q9UJT1	.;.;.;.;TBD_HUMAN	W	384;329;130;282;168	ENSP00000320797:R384W;ENSP00000342399:R329W;ENSP00000342561:R130W;ENSP00000365262:R282W	ENSP00000320797:R384W	R	-	1	2	TUBD1	55295916	0.967000	0.33354	0.999000	0.59377	0.994000	0.84299	1.765000	0.38481	0.360000	0.24265	0.549000	0.68633	CGG	TUBD1	-	superfamily_Tub_FtsZ_C		0.423	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBD1	HGNC	protein_coding	OTTHUMT00000448815.1	G	NM_016261		57941134	-1	no_errors	ENST00000325752	ensembl	human	known	70_37	missense	SNP	0.788	A
TWF2	11344	genome.wustl.edu	37	3	52263189	52263189	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:52263189G>A	ENST00000305533.5	-	9	1154	c.911C>T	c.(910-912)aCg>aTg	p.T304M	TLR9_ENST00000597542.1_Intron|TLR9_ENST00000494383.1_Intron|TWF2_ENST00000499914.2_3'UTR	NM_007284.3	NP_009215.1	Q6IBS0	TWF2_HUMAN	twinfilin actin-binding protein 2	304	ADF-H 2. {ECO:0000255|PROSITE- ProRule:PRU00599}.				barbed-end actin filament capping (GO:0051016)|cell projection organization (GO:0030030)|cellular response to growth factor stimulus (GO:0071363)|cellular response to retinoic acid (GO:0071300)|negative regulation of actin filament polymerization (GO:0030837)|positive regulation of axon extension (GO:0045773)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of microvillus length (GO:0032532)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|stereocilium (GO:0032420)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GAACTCTGCCGTCAGCTCTGC	0.642																																																	0													104.0	92.0	96.0					3																	52263189		2203	4300	6503	SO:0001583	missense	11344			Y17169	CCDS2849.1	3p21.1	2013-04-25	2013-04-25	2006-11-13	ENSG00000247596	ENSG00000247596			9621	protein-coding gene	gene with protein product		607433	"""protein tyrosine kinase 9-like (A6-related protein)"", ""PTK9L protein tyrosine kinase 9-like (A6-related protein)"", ""twinfilin, actin-binding protein, homolog 2 (Drosophila)"""	PTK9L		10406962, 12807912	Standard	NM_007284		Approved	A6RP, A6r		Q6IBS0	OTTHUMG00000158105	ENST00000305533.5:c.911C>T	3.37:g.52263189G>A	ENSP00000303908:p.Thr304Met		Q9Y3F5	Missense_Mutation	SNP	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin	p.T304M	ENST00000305533.5	37	c.911	CCDS2849.1	3	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825059	0.90955	.	.	ENSG00000247596	ENST00000305533	T	0.35236	1.32	5.04	5.04	0.67666	Actin-binding, cofilin/tropomyosin type (3);	.	.	.	.	T	0.67767	0.2928	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75684	-0.3232	9	0.87932	D	0	.	18.3781	0.90441	0.0:0.0:1.0:0.0	.	304	Q6IBS0	TWF2_HUMAN	M	304	ENSP00000303908:T304M	ENSP00000303908:T304M	T	-	2	0	TWF2	52238229	1.000000	0.71417	0.966000	0.40874	0.912000	0.54170	9.824000	0.99380	2.333000	0.79357	0.561000	0.74099	ACG	TWF2	-	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin		0.642	TWF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TWF2	HGNC	protein_coding	OTTHUMT00000350199.2	G			52263189	-1	no_errors	ENST00000305533	ensembl	human	known	70_37	missense	SNP	1.000	A
UBA5	79876	genome.wustl.edu	37	3	132395370	132395370	+	Nonstop_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:132395370G>C	ENST00000356232.4	+	12	2287	c.1215G>C	c.(1213-1215)taG>taC	p.*405Y	UBA5_ENST00000473651.1_3'UTR|UBA5_ENST00000494238.2_Nonstop_Mutation_p.*349Y|UBA5_ENST00000493720.2_Intron|UBA5_ENST00000264991.4_Nonstop_Mutation_p.*349Y	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	0					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566)			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AGAATATGTAGATAATGGACT	0.328																																																	0													87.0	87.0	87.0					3																	132395370		2203	4300	6503	SO:0001578	stop_lost	79876			AY253672	CCDS3076.1, CCDS3077.1	3q22	2007-11-30	2007-11-30	2007-11-30	ENSG00000081307	ENSG00000081307		"""Ubiquitin-like modifier activating enzymes"""	23230	protein-coding gene	gene with protein product	"""UBA5, ubiquitin-activating enzyme E1 homolog (yeast)"""	610552	"""ubiquitin-activating enzyme E1-domain containing 1"""	UBE1DC1		11230166, 15071506	Standard	NM_198329		Approved	FLJ23251	uc003epa.4	Q9GZZ9	OTTHUMG00000159759	ENST00000356232.4:c.1215G>C	3.37:g.132395370G>C	ENSP00000348565:p.*405Tyrext*12		A6NJL3|D3DNC8|Q96ST1	Nonstop_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB	p.*405Y	ENST00000356232.4	37	c.1215	CCDS3076.1	3	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968904	0.53614	.	.	ENSG00000081307	ENST00000264991;ENST00000356232;ENST00000494238	.	.	.	5.74	1.81	0.25067	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8712	0.46885	0.2781:0.0:0.7219:0.0	.	.	.	.	Y	349;405;349	.	.	X	+	3	2	UBA5	133878060	0.986000	0.35501	0.958000	0.39756	0.726000	0.41606	1.725000	0.38074	0.410000	0.25675	0.563000	0.77884	TAG	UBA5	-	NULL		0.328	UBA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA5	HGNC	protein_coding	OTTHUMT00000357187.2	G	NM_024818		132395370	+1	no_errors	ENST00000356232	ensembl	human	known	70_37	nonstop	SNP	0.922	C
UHRF1BP1	54887	genome.wustl.edu	37	6	34801995	34801995	+	Splice_Site	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:34801995G>A	ENST00000192788.5	+	5	511	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	UHRF1BP1_ENST00000452449.2_Splice_Site_p.E114K	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	114							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TTGTTGTAGTGAATATGGCTT	0.358																																																	0													106.0	95.0	99.0					6																	34801995		1900	4122	6022	SO:0001630	splice_region_variant	54887			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.339-1G>A	6.37:g.34801995G>A			Q9NXE0	Missense_Mutation	SNP	NULL	p.E114K	ENST00000192788.5	37	c.340	CCDS43455.1	6	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657267	0.88154	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.07567	3.18;3.18	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.13372	0.0324	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.03684	-1.1013	10	0.52906	T	0.07	-22.8245	18.0673	0.89395	0.0:0.0:1.0:0.0	.	114	Q6BDS2	URFB1_HUMAN	K	114	ENSP00000192788:E114K;ENSP00000400628:E114K	ENSP00000192788:E114K	E	+	1	0	UHRF1BP1	34909973	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.597000	0.98273	2.507000	0.84556	0.655000	0.94253	GAA	UHRF1BP1	-	NULL		0.358	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	HGNC	protein_coding	OTTHUMT00000040260.1	G	NM_017754	Missense_Mutation	34801995	+1	no_errors	ENST00000192788	ensembl	human	known	70_37	missense	SNP	1.000	A
UNC5D	137970	genome.wustl.edu	37	8	35542222	35542222	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr8:35542222G>A	ENST00000404895.2	+	6	1202	c.874G>A	c.(874-876)Gag>Aag	p.E292K	UNC5D_ENST00000416672.1_Missense_Mutation_p.E292K|UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000453357.2_Missense_Mutation_p.E287K|UNC5D_ENST00000287272.2_Intron	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	292	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GGCCTTTTGTGAGGGAATGTC	0.502																																																	0													170.0	152.0	158.0					8																	35542222		2203	4300	6503	SO:0001583	missense	137970			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.874G>A	8.37:g.35542222G>A	ENSP00000385143:p.Glu292Lys		Q8WYP7	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like	p.E292K	ENST00000404895.2	37	c.874	CCDS6093.2	8	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461042	0.84317	.	.	ENSG00000156687	ENST00000404895;ENST00000416672;ENST00000453357	T;T;T	0.52983	0.64;0.64;0.64	5.39	5.39	0.77823	.	0.153716	0.64402	D	0.000015	T	0.50769	0.1635	L	0.56769	1.78	0.80722	D	1	B;P;P	0.39480	0.051;0.675;0.549	B;B;B	0.41088	0.115;0.347;0.258	T	0.45323	-0.9269	10	0.31617	T	0.26	-21.8687	19.5354	0.95251	0.0:0.0:1.0:0.0	.	292;287;292	C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	K	292;292;287	ENSP00000385143:E292K;ENSP00000412652:E292K;ENSP00000394303:E287K	ENSP00000385143:E292K	E	+	1	0	UNC5D	35661764	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.709000	0.92574	0.655000	0.94253	GAG	UNC5D	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.502	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	G			35542222	+1	no_errors	ENST00000404895	ensembl	human	known	70_37	missense	SNP	1.000	A
UPF3B	65109	genome.wustl.edu	37	X	118985826	118985826	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:118985826C>T	ENST00000276201.2	-	2	236	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	UPF3B_ENST00000345865.2_Missense_Mutation_p.R56Q	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	56	Binds to UPF2.|Necessary for interaction with UPF2.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						AGGTAATCTTCGAATTACCAC	0.373																																																	0													49.0	48.0	48.0					X																	118985826		2203	4300	6503	SO:0001583	missense	65109			AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.167G>A	X.37:g.118985826C>T	ENSP00000276201:p.Arg56Gln		D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	pfam_Nonsense_mediated_decay_UPF3	p.R56Q	ENST00000276201.2	37	c.167	CCDS14588.1	X	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482120	0.84747	.	.	ENSG00000125351	ENST00000276201;ENST00000345865;ENST00000439808	T;T	0.72051	-0.62;-0.62	4.85	4.85	0.62838	Regulator of nonsense-mediated decay, UPF3 (1);Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	D	0.85852	0.5793	M	0.89287	3.02	0.80722	D	1	D;D	0.76494	0.999;0.999	P;D	0.80764	0.905;0.994	D	0.88843	0.3314	10	0.87932	D	0	.	14.48	0.67576	0.0:1.0:0.0:0.0	.	56;56	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	Q	56	ENSP00000276201:R56Q;ENSP00000245418:R56Q	ENSP00000276201:R56Q	R	-	2	0	UPF3B	118869854	1.000000	0.71417	0.943000	0.38184	0.997000	0.91878	7.198000	0.77823	1.995000	0.58328	0.600000	0.82982	CGA	UPF3B	-	pfam_Nonsense_mediated_decay_UPF3		0.373	UPF3B-001	KNOWN	basic|CCDS	protein_coding	UPF3B	HGNC	protein_coding	OTTHUMT00000058068.1	C			118985826	-1	no_errors	ENST00000276201	ensembl	human	known	70_37	missense	SNP	1.000	T
UPK3B	80761	genome.wustl.edu	37	7	76144472	76144472	+	Silent	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:76144472C>T	ENST00000257632.5	+	4	995	c.867C>T	c.(865-867)gcC>gcT	p.A289A	UPK3B_ENST00000394849.1_Silent_p.A234A|UPK3B_ENST00000419923.2_Silent_p.A289A|UPK3B_ENST00000334348.3_Missense_Mutation_p.P261L|UPK3B_ENST00000448265.3_Silent_p.A289A|UPK3B_ENST00000443097.2_Missense_Mutation_p.P261L			Q9BT76	UPK3B_HUMAN	uroplakin 3B	289					negative regulation of gene expression (GO:0010629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				GCCACACTGCCGGTGGGCTGC	0.697																																																	0													18.0	19.0	18.0					7																	76144472		2201	4289	6490	SO:0001819	synonymous_variant	80761			BC004304	CCDS5588.1, CCDS5589.1, CCDS64693.1	7q11.2	2003-07-29			ENSG00000243566	ENSG00000243566			21444	protein-coding gene	gene with protein product	"""uroplakin IIIb"""	611887				12446744	Standard	XM_005250612		Approved	MGC10902, p35, UPIIIb, FLJ32198	uc003ufq.3	Q9BT76	OTTHUMG00000149929	ENST00000257632.5:c.867C>T	7.37:g.76144472C>T			A6NHH5|A8K231|A8MZA8|B3KPU5|Q75MM5|Q86W06	Missense_Mutation	SNP	NULL	p.P261L	ENST00000257632.5	37	c.782	CCDS5588.1	7	.	.	.	.	.	.	.	.	.	.	.	14.63	2.592908	0.46214	.	.	ENSG00000243566	ENST00000334348;ENST00000443097	T;T	0.62364	0.03;0.03	4.08	4.08	0.47627	.	.	.	.	.	T	0.78329	0.4266	.	.	.	0.45791	D	0.998679	D	0.89917	1.0	D	0.87578	0.998	T	0.81640	-0.0841	8	0.87932	D	0	-12.6869	13.9332	0.64010	0.0:1.0:0.0:0.0	.	261	A6NHH5	.	L	261	ENSP00000334938:P261L;ENSP00000444585:P261L	ENSP00000334938:P261L	P	+	2	0	UPK3B	75982408	0.970000	0.33590	0.548000	0.28192	0.022000	0.10575	3.725000	0.54970	2.293000	0.77203	0.556000	0.70494	CCG	UPK3B	-	NULL		0.697	UPK3B-002	KNOWN	basic|CCDS	protein_coding	UPK3B	HGNC	protein_coding	OTTHUMT00000313978.2	C	NM_030570		76144472	+1	no_errors	ENST00000334348	ensembl	human	known	70_37	missense	SNP	0.968	T
USH2A	7399	genome.wustl.edu	37	1	216380627	216380627	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:216380627G>A	ENST00000307340.3	-	16	3690	c.3304C>T	c.(3304-3306)Caa>Taa	p.Q1102*	USH2A_ENST00000366942.3_Nonsense_Mutation_p.Q1102*|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366943.2_Nonsense_Mutation_p.Q1102*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1102	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TATGGGTATTGATCCTCTGTT	0.378										HNSCC(13;0.011)																																							0													90.0	88.0	89.0					1																	216380627		2203	4300	6503	SO:0001587	stop_gained	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3304C>T	1.37:g.216380627G>A	ENSP00000305941:p.Gln1102*		Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.Q1102*	ENST00000307340.3	37	c.3304	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	44	10.797912	0.99469	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	.	.	.	5.86	3.79	0.43588	.	0.805539	0.10421	N	0.676696	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	2.9365	0.05816	0.1398:0.1229:0.4873:0.25	.	.	.	.	X	1102	.	ENSP00000305941:Q1102X	Q	-	1	0	USH2A	214447250	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.067000	0.41461	1.456000	0.47831	0.655000	0.94253	CAA	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.378	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	G	NM_007123		216380627	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	nonsense	SNP	0.897	A
USP11	8237	genome.wustl.edu	37	X	47098791	47098791	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:47098791G>A	ENST00000218348.3	+	3	457	c.457G>A	c.(457-459)Gag>Aag	p.E153K	USP11_ENST00000377107.2_Missense_Mutation_p.E110K	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	153	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GGTGGAAGGCGAGGATTATGT	0.542																																																	0													57.0	46.0	50.0					X																	47098791		2203	4300	6503	SO:0001583	missense	8237			U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.457G>A	X.37:g.47098791G>A	ENSP00000218348:p.Glu153Lys		B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.E153K	ENST00000218348.3	37	c.457	CCDS14277.1	X	.	.	.	.	.	.	.	.	.	.	G	3.419	-0.118520	0.06838	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.21543	2.01;2.0	5.85	-0.173	0.13322	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.511078	0.20602	N	0.089132	T	0.11623	0.0283	L	0.35644	1.08	0.19775	N	0.999957	B	0.20368	0.044	B	0.21151	0.033	T	0.41088	-0.9528	10	0.07325	T	0.83	-3.0347	6.3193	0.21208	0.4751:0.1232:0.4016:0.0	.	153	P51784	UBP11_HUMAN	K	110;153	ENSP00000366311:E110K;ENSP00000218348:E153K	ENSP00000218348:E153K	E	+	1	0	USP11	46983735	0.321000	0.24625	0.013000	0.15412	0.204000	0.24138	0.614000	0.24314	-0.549000	0.06191	-0.192000	0.12808	GAG	USP11	-	pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP		0.542	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP11	HGNC	protein_coding		G	NM_004651		47098791	+1	no_errors	ENST00000218348	ensembl	human	known	70_37	missense	SNP	0.147	A
USP19	10869	genome.wustl.edu	37	3	49152994	49152994	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:49152994C>G	ENST00000398888.2	-	11	1780	c.1462G>C	c.(1462-1464)Gag>Cag	p.E488Q	USP19_ENST00000434032.2_Missense_Mutation_p.E589Q|USP19_ENST00000453664.1_Missense_Mutation_p.E579Q|USP19_ENST00000398898.2_Missense_Mutation_p.E528Q|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398892.3_Missense_Mutation_p.E528Q|USP19_ENST00000417901.1_Missense_Mutation_p.E591Q|USP19_ENST00000398896.1_Missense_Mutation_p.E296Q	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	488					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		Accttcttctcttcctcttcc	0.547																																																	0													45.0	50.0	48.0					3																	49152994		2189	4290	6479	SO:0001583	missense	10869			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.1462G>C	3.37:g.49152994C>G	ENSP00000381863:p.Glu488Gln		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	pfam_DUF1872,pfam_Peptidase_C19,pfam_Znf_MYND,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_Znf_MYND,pfscan_Peptidase_C19	p.E488Q	ENST00000398888.2	37	c.1462	CCDS43090.1	3	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292604	0.80914	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.21932	2.02;1.99;2.08;2.09;1.98;2.11;2.08	5.92	5.92	0.95590	Domain of unknown function DUF1872 (1);	0.181349	0.52532	D	0.000079	T	0.41627	0.1167	L	0.43152	1.355	0.80722	D	1	P;D;D;D;D;D;D	0.89917	0.947;1.0;0.998;0.995;0.999;0.991;0.975	P;D;D;P;D;P;P	0.91635	0.805;0.999;0.914;0.873;0.996;0.881;0.776	T	0.01814	-1.1268	10	0.37606	T	0.19	-21.211	19.9031	0.96996	0.0:1.0:0.0:0.0	.	654;589;579;488;528;574;296	A5PKX8;E9PEG8;E7EN22;O94966;B5MEG5;O94966-2;E7ESU0	.;.;.;UBP19_HUMAN;.;.;.	Q	296;528;591;579;528;488;589	ENSP00000381870:E296Q;ENSP00000381872:E528Q;ENSP00000395260:E591Q;ENSP00000400090:E579Q;ENSP00000381867:E528Q;ENSP00000381863:E488Q;ENSP00000401197:E589Q	ENSP00000381863:E488Q	E	-	1	0	USP19	49127998	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.149000	0.77396	2.795000	0.96236	0.655000	0.94253	GAG	USP19	-	pfam_DUF1872		0.547	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USP19	HGNC	protein_coding	OTTHUMT00000257721.1	C	NM_006677		49152994	-1	no_errors	ENST00000398888	ensembl	human	known	70_37	missense	SNP	1.000	G
USP19	10869	genome.wustl.edu	37	3	49153054	49153054	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:49153054C>T	ENST00000398888.2	-	11	1720	c.1402G>A	c.(1402-1404)Gtg>Atg	p.V468M	USP19_ENST00000434032.2_Missense_Mutation_p.V569M|USP19_ENST00000453664.1_Missense_Mutation_p.V559M|USP19_ENST00000398898.2_Missense_Mutation_p.V508M|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398892.3_Missense_Mutation_p.V508M|USP19_ENST00000417901.1_Missense_Mutation_p.V571M|USP19_ENST00000398896.1_Missense_Mutation_p.V276M	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	468					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATGGGAGGCACCATGCATGTA	0.567																																																	0													29.0	32.0	31.0					3																	49153054		2179	4284	6463	SO:0001583	missense	10869			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.1402G>A	3.37:g.49153054C>T	ENSP00000381863:p.Val468Met		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	pfam_DUF1872,pfam_Peptidase_C19,pfam_Znf_MYND,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_Znf_MYND,pfscan_Peptidase_C19	p.V468M	ENST00000398888.2	37	c.1402	CCDS43090.1	3	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947587	0.73787	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032;ENST00000306026	T;T;T;T;T;T;T;T	0.57107	1.95;1.89;1.99;1.99;1.89;2.03;1.99;0.42	5.92	5.92	0.95590	Domain of unknown function DUF1872 (1);	3.448150	0.00769	N	0.001188	T	0.76730	0.4028	L	0.55481	1.735	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.995;1.0;1.0;0.999;0.999;1.0;0.999	T	0.59332	-0.7474	10	0.87932	D	0	-15.4363	19.9031	0.96996	0.0:1.0:0.0:0.0	.	634;569;559;468;508;554;276	A5PKX8;E9PEG8;E7EN22;O94966;B5MEG5;O94966-2;E7ESU0	.;.;.;UBP19_HUMAN;.;.;.	M	276;508;571;559;508;468;569;556	ENSP00000381870:V276M;ENSP00000381872:V508M;ENSP00000395260:V571M;ENSP00000400090:V559M;ENSP00000381867:V508M;ENSP00000381863:V468M;ENSP00000401197:V569M;ENSP00000303503:V556M	ENSP00000303503:V556M	V	-	1	0	USP19	49128058	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	7.673000	0.83973	2.795000	0.96236	0.655000	0.94253	GTG	USP19	-	pfam_DUF1872		0.567	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USP19	HGNC	protein_coding	OTTHUMT00000257721.1	C	NM_006677		49153054	-1	no_errors	ENST00000398888	ensembl	human	known	70_37	missense	SNP	1.000	T
USP46	64854	genome.wustl.edu	37	4	53492271	53492271	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr4:53492271C>G	ENST00000441222.3	-	4	659	c.475G>C	c.(475-477)Gaa>Caa	p.E159Q	USP46_ENST00000451218.2_Missense_Mutation_p.E132Q|USP46_ENST00000508499.1_Missense_Mutation_p.E152Q	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	159	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			TTATTATTTTCCGCAGGTTCG	0.388																																																	0													145.0	133.0	137.0					4																	53492271		1832	4108	5940	SO:0001583	missense	64854			AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"""Ubiquitin-specific peptidases"""	20075	protein-coding gene	gene with protein product		612849	"""ubiquitin specific protease 46"""			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.475G>C	4.37:g.53492271C>G	ENSP00000407818:p.Glu159Gln		B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.E159Q	ENST00000441222.3	37	c.475	CCDS47053.1	4	.	.	.	.	.	.	.	.	.	.	C	7.362	0.624960	0.14257	.	.	ENSG00000109189	ENST00000441222;ENST00000451218;ENST00000508499	T;T;T	0.31510	1.49;1.49;1.49	4.91	4.91	0.64330	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.450937	0.20280	N	0.095461	T	0.24044	0.0582	N	0.20807	0.61	0.58432	D	0.999999	B;B;B;B	0.18741	0.002;0.0;0.001;0.03	B;B;B;B	0.25614	0.016;0.009;0.009;0.062	T	0.04737	-1.0930	10	0.26408	T	0.33	-21.6328	17.4569	0.87609	0.0:1.0:0.0:0.0	.	43;147;159;152	P62068-2;P62068-4;P62068;P62068-3	.;.;UBP46_HUMAN;.	Q	159;132;152	ENSP00000407818:E159Q;ENSP00000390102:E132Q;ENSP00000423244:E152Q	ENSP00000407818:E159Q	E	-	1	0	USP46	53187028	1.000000	0.71417	0.084000	0.20598	0.003000	0.03518	4.337000	0.59310	2.434000	0.82447	0.585000	0.79938	GAA	USP46	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.388	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP46	HGNC	protein_coding	OTTHUMT00000361516.2	C	NM_022832		53492271	-1	no_errors	ENST00000441222	ensembl	human	known	70_37	missense	SNP	0.997	G
VPS13A	23230	genome.wustl.edu	37	9	79933357	79933357	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr9:79933357G>A	ENST00000360280.3	+	41	5423	c.5163G>A	c.(5161-5163)atG>atA	p.M1721I	VPS13A_ENST00000376634.4_Missense_Mutation_p.M1721I|VPS13A_ENST00000376636.3_Missense_Mutation_p.M1682I|VPS13A_ENST00000357409.5_Missense_Mutation_p.M1721I|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1721					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAGGCGAGATGATAAAAATGA	0.353																																																	0													79.0	83.0	82.0					9																	79933357		2203	4300	6503	SO:0001583	missense	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.5163G>A	9.37:g.79933357G>A	ENSP00000353422:p.Met1721Ile		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.M1721I	ENST00000360280.3	37	c.5163	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234468	0.22626	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.4	-7.84	0.01196	.	0.564372	0.18942	N	0.126908	T	0.18002	0.0432	N	0.19112	0.55	0.19575	N	0.999969	B;B;B;B	0.06786	0.0;0.001;0.001;0.001	B;B;B;B	0.08055	0.003;0.001;0.002;0.002	T	0.02661	-1.1127	10	0.42905	T	0.14	.	4.8022	0.13303	0.5241:0.2654:0.126:0.0844	.	1682;1721;1721;1721	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	I	1721;1682;1721;1721	ENSP00000365821:M1721I;ENSP00000365823:M1682I;ENSP00000353422:M1721I;ENSP00000349985:M1721I	ENSP00000349985:M1721I	M	+	3	0	VPS13A	79123177	0.000000	0.05858	0.004000	0.12327	0.769000	0.43574	-1.394000	0.02518	-1.961000	0.01016	0.460000	0.39030	ATG	VPS13A	-	NULL		0.353	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	G	NM_015186		79933357	+1	no_errors	ENST00000360280	ensembl	human	known	70_37	missense	SNP	0.001	A
VPS13D	55187	genome.wustl.edu	37	1	12316413	12316413	+	Missense_Mutation	SNP	G	G	C	rs148067811	byFrequency	TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:12316413G>C	ENST00000358136.3	+	8	823	c.693G>C	c.(691-693)gaG>gaC	p.E231D	VPS13D_ENST00000356315.4_Missense_Mutation_p.E231D	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGAGCATGGAGAGTCGCAGCC	0.537																																																	0													134.0	123.0	127.0					1																	12316413		2203	4300	6503	SO:0001583	missense	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.693G>C	1.37:g.12316413G>C	ENSP00000350854:p.Glu231Asp			Missense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.E231D	ENST00000358136.3	37	c.693	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005748	0.35415	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.52526	0.66;0.66	5.94	3.71	0.42584	.	0.164625	0.52532	N	0.000065	T	0.32133	0.0819	L	0.43152	1.355	0.80722	D	1	B;B	0.30741	0.232;0.293	B;B	0.29440	0.102;0.07	T	0.06588	-1.0818	10	0.13853	T	0.58	.	5.4578	0.16600	0.178:0.1984:0.6236:0.0	.	231;231	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	D	231	ENSP00000348666:E231D;ENSP00000350854:E231D	ENSP00000348666:E231D	E	+	3	2	VPS13D	12239000	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	2.055000	0.41345	1.482000	0.48325	0.650000	0.86243	GAG	VPS13D	-	NULL		0.537	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	G	NM_015378		12316413	+1	no_errors	ENST00000358136	ensembl	human	known	70_37	missense	SNP	1.000	C
VPS13D	55187	genome.wustl.edu	37	1	12401881	12401881	+	Missense_Mutation	SNP	G	G	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:12401881G>T	ENST00000358136.3	+	41	8801	c.8671G>T	c.(8671-8673)Gct>Tct	p.A2891S	VPS13D_ENST00000356315.4_Missense_Mutation_p.A2866S	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGTCCCCTTTGCTCTGAGGAA	0.557																																																	0													98.0	99.0	99.0					1																	12401881		2203	4300	6503	SO:0001583	missense	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8671G>T	1.37:g.12401881G>T	ENSP00000350854:p.Ala2891Ser			Missense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.A2891S	ENST00000358136.3	37	c.8671	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.539363|5.539363	0.96474|0.96474	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.48836|.	0.8;0.8|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73450|0.73450	0.3588|0.3588	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P;P|.	0.42620|.	0.561;0.785|.	B;B|.	0.43413|.	0.353;0.419|.	T|T	0.69602|0.69602	-0.5101|-0.5101	10|5	0.22109|.	T|.	0.4|.	.|.	19.8883|19.8883	0.96919|0.96919	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2866;2890|.	Q5THJ4-2;Q5THJ4|.	.;VP13D_HUMAN|.	S|F	2866;2891|1712	ENSP00000348666:A2866S;ENSP00000350854:A2891S|.	ENSP00000348666:A2866S|.	A|L	+|+	1|3	0|2	VPS13D|VPS13D	12324468|12324468	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.476000|9.476000	0.97823|0.97823	2.698000|2.698000	0.92095|0.92095	0.585000|0.585000	0.79938|0.79938	GCT|TTG	VPS13D	-	NULL		0.557	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	G	NM_015378		12401881	+1	no_errors	ENST00000358136	ensembl	human	known	70_37	missense	SNP	1.000	T
WASH3P	374666	genome.wustl.edu	37	15	102506359	102506359	+	RNA	SNP	G	G	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:102506359G>T	ENST00000557932.1	+	0	105							C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GCGGCGAGAGGAGGCCGTCCA	0.637																																																	0																																												374666					15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102506359G>T				RNA	SNP	-	NULL	ENST00000557932.1	37	NULL		15	.	.	.	.	.	.	.	.	.	.	g	11.18	1.563864	0.27915	.	.	ENSG00000185596	ENST00000338304;ENST00000398121;ENST00000378819	.	.	.	2.36	2.36	0.29203	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.6755	8.255	0.31751	0.0:0.0:1.0:0.0	.	.	.	.	X	42;28;28	.	.	E	+	1	0	WASH3P	100323882	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	6.090000	0.71397	1.335000	0.45486	0.184000	0.17185	GAG	WASH3P	-	-		0.637	WASH3P-001	KNOWN	basic	processed_transcript	WASH3P	HGNC	pseudogene	OTTHUMT00000417608.1	G	NM_199163		102506359	+1	no_errors	ENST00000354296	ensembl	human	known	70_37	rna	SNP	1.000	T
WNK3	65267	genome.wustl.edu	37	X	54359713	54359714	+	In_Frame_Ins	INS	-	-	TTT			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:54359713_54359714insTTT	ENST00000375159.2	-	1	392_393	c.393_394insAAA	c.(391-396)gaagaa>gaaAAAgaa	p.131_132EE>EKE	WNK3_ENST00000375169.3_In_Frame_Ins_p.131_132EE>EKE|WNK3_ENST00000354646.2_In_Frame_Ins_p.131_132EE>EKE			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	131					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ATTTCTGCTTCTTCTTCCATTT	0.361																																																	0																																										SO:0001652	inframe_insertion	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.393_394insAAA	X.37:g.54359713_54359714insTTT	ENSP00000364301:p.Glu131_Glu132insLys		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	In_Frame_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.131in_frame_insK	ENST00000375159.2	37	c.394_393	CCDS14357.1	X																																																																																			WNK3	-	NULL		0.361	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	-	NM_020922		54359714	-1	no_errors	ENST00000354646	ensembl	human	known	70_37	in_frame_ins	INS	1.000:1.000	TTT
WNK3	65267	genome.wustl.edu	37	X	54359716	54359717	+	In_Frame_Ins	INS	-	-	CAT			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:54359716_54359717insCAT	ENST00000375159.2	-	1	389_390	c.390_391insATG	c.(388-393)gaagaa>gaaATGgaa	p.130_131EE>EME	WNK3_ENST00000375169.3_In_Frame_Ins_p.130_131EE>EME|WNK3_ENST00000354646.2_In_Frame_Ins_p.130_131EE>EME			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	130					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TCTGCTTCTTCTTCCATTTCCT	0.361																																																	0																																										SO:0001652	inframe_insertion	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.390_391insATG	X.37:g.54359716_54359717insCAT	ENSP00000364301:p.Glu130_Glu131insMet		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	In_Frame_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.130in_frame_insM	ENST00000375159.2	37	c.391_390	CCDS14357.1	X																																																																																			WNK3	-	NULL		0.361	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	-	NM_020922		54359717	-1	no_errors	ENST00000354646	ensembl	human	known	70_37	in_frame_ins	INS	1.000:1.000	CAT
WNK4	65266	genome.wustl.edu	37	17	40946853	40946853	+	Missense_Mutation	SNP	C	C	G	rs554465446	byFrequency	TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:40946853C>G	ENST00000246914.5	+	14	2435	c.2414C>G	c.(2413-2415)tCt>tGt	p.S805C		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	805					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		ACCTCCTCATCTTCTCCTGGA	0.567																																					Esophageal Squamous(6;201 374 4964 23855 42828)												0													150.0	119.0	130.0					17																	40946853		2203	4300	6503	SO:0001583	missense	65266			AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.2414C>G	17.37:g.40946853C>G	ENSP00000246914:p.Ser805Cys		B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S805C	ENST00000246914.5	37	c.2414	CCDS11439.1	17	.	.	.	.	.	.	.	.	.	.	C	12.75	2.032001	0.35893	.	.	ENSG00000126562	ENST00000246914;ENST00000316085	T	0.72282	-0.64	5.58	2.35	0.29111	.	0.384195	0.21029	N	0.081366	T	0.59810	0.2221	L	0.27053	0.805	0.25993	N	0.982211	P;P;P	0.49253	0.921;0.871;0.871	P;B;B	0.50378	0.639;0.436;0.319	T	0.52124	-0.8617	10	0.54805	T	0.06	-12.8249	3.6507	0.08202	0.0:0.5161:0.1891:0.2948	.	805;805;805	Q96J92-3;B0LPI0;Q96J92	.;.;WNK4_HUMAN	C	805;577	ENSP00000246914:S805C	ENSP00000246914:S805C	S	+	2	0	WNK4	38200379	0.002000	0.14202	0.998000	0.56505	0.507000	0.33981	0.334000	0.19787	1.495000	0.48549	0.591000	0.81541	TCT	WNK4	-	NULL		0.567	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK4	HGNC	protein_coding	OTTHUMT00000452389.1	C			40946853	+1	no_errors	ENST00000246914	ensembl	human	known	70_37	missense	SNP	0.799	G
XIRP2	129446	genome.wustl.edu	37	2	168114788	168114788	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:168114788G>A	ENST00000409728.1	+	11	1920	c.1831G>A	c.(1831-1833)Gaa>Aaa	p.E611K	XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.E578K|XIRP2_ENST00000409043.1_Missense_Mutation_p.E578K|XIRP2_ENST00000409605.1_Missense_Mutation_p.E356K|XIRP2_ENST00000420519.1_Missense_Mutation_p.E611K	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATTTAAAAGTGAATCTCTGCT	0.403																																																	0													91.0	90.0	90.0					2																	168114788		1859	4092	5951	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.1831G>A	2.37:g.168114788G>A	ENSP00000386619:p.Glu611Lys		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.E611K	ENST00000409728.1	37	c.1831	CCDS56143.1	2	.	.	.	.	.	.	.	.	.	.	G	11.85	1.760408	0.31137	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	T;T;T;T;T	0.79352	-1.24;-1.24;-1.24;-1.24;-1.26	6.06	6.06	0.98353	.	.	.	.	.	T	0.79149	0.4397	.	.	.	0.23227	N	0.998084	P;P	0.49559	0.925;0.925	P;P	0.49752	0.621;0.621	T	0.73997	-0.3806	8	0.87932	D	0	.	10.4365	0.44439	0.0687:0.242:0.6893:0.0	.	578;611	A4UGR9-4;A4UGR9-6	.;.	K	578;611;578;611;356	ENSP00000386454:E578K;ENSP00000386619:E611K;ENSP00000386724:E578K;ENSP00000415541:E611K;ENSP00000386981:E356K	ENSP00000386454:E578K	E	+	1	0	XIRP2	167823034	0.653000	0.27358	0.021000	0.16686	0.609000	0.37215	2.590000	0.46154	2.882000	0.98803	0.655000	0.94253	GAA	XIRP2	-	NULL		0.403	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1	G	NM_152381		168114788	+1	no_errors	ENST00000420519	ensembl	human	known	70_37	missense	SNP	0.013	A
YTHDC2	64848	genome.wustl.edu	37	5	112874788	112874788	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:112874788G>C	ENST00000161863.4	+	8	1333	c.1120G>C	c.(1120-1122)Gaa>Caa	p.E374Q	YTHDC2_ENST00000515883.1_Missense_Mutation_p.E374Q	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	374					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AAGACCATTTGAAGTAAAAGA	0.249																																																	0													13.0	15.0	14.0					5																	112874788		2069	4187	6256	SO:0001583	missense	64848			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.1120G>C	5.37:g.112874788G>C	ENSP00000161863:p.Glu374Gln		B2RP66	Missense_Mutation	SNP	pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E374Q	ENST00000161863.4	37	c.1120	CCDS4113.1	5	.	.	.	.	.	.	.	.	.	.	G	15.96	2.985573	0.53934	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.19938	2.11;2.11	5.43	5.43	0.79202	DEAD-like helicase (1);	0.049293	0.85682	D	0.000000	T	0.25419	0.0618	L	0.49350	1.555	0.58432	D	0.999999	B	0.13594	0.008	B	0.12156	0.007	T	0.02596	-1.1136	10	0.54805	T	0.06	.	19.239	0.93875	0.0:0.0:1.0:0.0	.	374	Q9H6S0	YTDC2_HUMAN	Q	374;374;284	ENSP00000161863:E374Q;ENSP00000423101:E374Q	ENSP00000161863:E374Q	E	+	1	0	YTHDC2	112902687	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.370000	0.97159	2.532000	0.85374	0.557000	0.71058	GAA	YTHDC2	-	smart_Helicase_ATP-bd		0.249	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDC2	HGNC	protein_coding	OTTHUMT00000250776.2	G	NM_022828		112874788	+1	no_errors	ENST00000161863	ensembl	human	known	70_37	missense	SNP	1.000	C
ZBTB38	253461	genome.wustl.edu	37	3	141161907	141161907	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:141161907C>G	ENST00000514251.1	+	4	956	c.677C>G	c.(676-678)tCt>tGt	p.S226C	ZBTB38_ENST00000321464.5_Missense_Mutation_p.S227C|ZBTB38_ENST00000441582.2_Missense_Mutation_p.S226C					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TACGCTGTTTCTTCCGTAGCT	0.532																																																	0													60.0	60.0	60.0					3																	141161907		2105	4230	6335	SO:0001583	missense	253461			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.677C>G	3.37:g.141161907C>G	ENSP00000426387:p.Ser226Cys			Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S227C	ENST00000514251.1	37	c.680	CCDS43157.1	3	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029798	0.54790	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	T;T;T;T	0.10382	3.35;2.88;2.88;2.88	5.28	5.28	0.74379	.	0.345763	0.28600	N	0.014771	T	0.21103	0.0508	L	0.32530	0.975	0.43029	D	0.994596	D;D	0.71674	0.998;0.998	P;P	0.60173	0.87;0.87	T	0.01093	-1.1454	9	.	.	.	-10.1427	19.2658	0.93984	0.0:1.0:0.0:0.0	.	227;226	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	C	226;226;226;227	ENSP00000424254:S226C;ENSP00000426387:S226C;ENSP00000406955:S226C;ENSP00000372635:S227C	.	S	+	2	0	ZBTB38	142644597	0.983000	0.35010	0.024000	0.17045	0.274000	0.26718	5.321000	0.65846	2.611000	0.88343	0.591000	0.81541	TCT	ZBTB38	-	NULL		0.532	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	HGNC	protein_coding	OTTHUMT00000359329.2	C			141161907	+1	no_errors	ENST00000321464	ensembl	human	known	70_37	missense	SNP	0.725	G
ZDHHC5	25921	genome.wustl.edu	37	11	57466157	57466157	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:57466157C>G	ENST00000287169.3	+	11	2611	c.1249C>G	c.(1249-1251)Cac>Gac	p.H417D	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.H364D	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	417					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CAAAAGTTTTCACTTCGATCC	0.567																																																	0													98.0	84.0	88.0					11																	57466157		2201	4296	6497	SO:0001583	missense	25921			AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.1249C>G	11.37:g.57466157C>G	ENSP00000287169:p.His417Asp		Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase	p.H417D	ENST00000287169.3	37	c.1249	CCDS7965.1	11	.	.	.	.	.	.	.	.	.	.	C	11.49	1.654805	0.29425	.	.	ENSG00000156599	ENST00000527985;ENST00000287169;ENST00000529447	T;T;D	0.82344	0.39;1.39;-1.6	5.09	5.09	0.68999	.	0.591884	0.18445	N	0.141004	T	0.70806	0.3266	N	0.08118	0	0.34043	D	0.655244	B	0.20887	0.049	B	0.22601	0.04	T	0.70799	-0.4774	10	0.31617	T	0.26	-12.1786	18.2951	0.90143	0.0:1.0:0.0:0.0	.	417	Q9C0B5	ZDHC5_HUMAN	D	364;417;251	ENSP00000432202:H364D;ENSP00000287169:H417D;ENSP00000435722:H251D	ENSP00000287169:H417D	H	+	1	0	ZDHHC5	57222733	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	2.745000	0.47459	2.656000	0.90262	0.563000	0.77884	CAC	ZDHHC5	-	NULL		0.567	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC5	HGNC	protein_coding	OTTHUMT00000393694.1	C	NM_015457		57466157	+1	no_errors	ENST00000287169	ensembl	human	known	70_37	missense	SNP	1.000	G
ZFAT	57623	genome.wustl.edu	37	8	135669870	135669870	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr8:135669870C>T	ENST00000377838.3	-	2	304	c.130G>A	c.(130-132)Gag>Aag	p.E44K	ZFAT_ENST00000520356.1_Missense_Mutation_p.E32K|ZFAT_ENST00000523399.1_Missense_Mutation_p.E44K|ZFAT_ENST00000520727.1_Missense_Mutation_p.E32K|ZFAT_ENST00000429442.2_Missense_Mutation_p.E32K|ZFAT_ENST00000520214.1_Missense_Mutation_p.E32K	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	44					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			ATAATAATCTCATCAACATTA	0.488																																																	0													109.0	103.0	105.0					8																	135669870		1871	4109	5980	SO:0001583	missense	57623			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.130G>A	8.37:g.135669870C>T	ENSP00000367069:p.Glu44Lys		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E44K	ENST00000377838.3	37	c.130	CCDS47924.1	8	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909315	0.72868	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946;ENST00000518191	T;T;T;T;T;T;T	0.33216	2.96;2.9;2.9;2.89;2.9;2.9;1.42	5.72	5.72	0.89469	.	0.184066	0.44688	D	0.000426	T	0.21881	0.0527	N	0.19112	0.55	0.32203	N	0.577608	B;B;B;B	0.34290	0.321;0.361;0.447;0.321	B;B;B;B	0.29942	0.073;0.039;0.109;0.073	T	0.15065	-1.0450	10	0.36615	T	0.2	-21.1298	17.3907	0.87430	0.0:1.0:0.0:0.0	.	44;32;32;44	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	K	32;32;32;44;32;32;44;32;32	ENSP00000427879:E32K;ENSP00000427831:E32K;ENSP00000394501:E32K;ENSP00000367069:E44K;ENSP00000428483:E32K;ENSP00000429091:E44K;ENSP00000428192:E32K	ENSP00000326997:E32K	E	-	1	0	ZFAT	135739052	1.000000	0.71417	0.974000	0.42286	0.995000	0.86356	5.705000	0.68355	2.691000	0.91804	0.655000	0.94253	GAG	ZFAT	-	NULL		0.488	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAT	HGNC	protein_coding	OTTHUMT00000378272.1	C	NM_001029939		135669870	-1	no_errors	ENST00000377838	ensembl	human	known	70_37	missense	SNP	0.991	T
ZFYVE26	23503	genome.wustl.edu	37	14	68229100	68229100	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr14:68229100G>A	ENST00000347230.4	-	34	6327	c.6189C>T	c.(6187-6189)acC>acT	p.T2063T	ZFYVE26_ENST00000557306.1_5'Flank|ZFYVE26_ENST00000555452.1_Silent_p.T2063T	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2063					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCCACGCCCCGGTGGTATCAA	0.542																																																	0													55.0	47.0	50.0					14																	68229100		2203	4300	6503	SO:0001819	synonymous_variant	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.6189C>T	14.37:g.68229100G>A			B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.T2063	ENST00000347230.4	37	c.6189	CCDS9788.1	14																																																																																			ZFYVE26	-	NULL		0.542	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	HGNC	protein_coding	OTTHUMT00000412736.2	G	NM_015346		68229100	-1	no_errors	ENST00000347230	ensembl	human	known	70_37	silent	SNP	0.004	A
ZGLP1	100125288	genome.wustl.edu	37	19	10416086	10416086	+	Silent	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:10416086G>C	ENST00000403903.3	-	3	1876	c.678C>G	c.(676-678)ctC>ctG	p.L226L	ZGLP1_ENST00000403352.1_Silent_p.L142L	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN	zinc finger, GATA-like protein 1	226					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|spermatogenesis (GO:0007283)|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)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						AGGCGTTGCAGAGAGGGGTCC	0.627																																																	0													24.0	25.0	25.0					19																	10416086		1898	4122	6020	SO:0001819	synonymous_variant	100125288			AK096830	CCDS45959.1	19p13.2	2013-01-25			ENSG00000220201	ENSG00000220201		"""GATA zinc finger domain containing"""	37245	protein-coding gene	gene with protein product	"""GATA like protein 1"", ""GATA zinc finger domain containing 3"""	611639				16982049	Standard	NM_001103167		Approved	GLP1, GLP-1, GATAD3	uc002mnw.4	P0C6A0	OTTHUMG00000152114	ENST00000403903.3:c.678C>G	19.37:g.10416086G>C				Silent	SNP	pfam_Znf_GATA,smart_Znf_GATA,pfscan_Znf_GATA,prints_Znf_GATA	p.L226	ENST00000403903.3	37	c.678	CCDS45959.1	19																																																																																			ZGLP1	-	pfam_Znf_GATA,smart_Znf_GATA,pfscan_Znf_GATA,prints_Znf_GATA		0.627	ZGLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZGLP1	HGNC	protein_coding	OTTHUMT00000325278.1	G	NM_001103167		10416086	-1	no_errors	ENST00000403903	ensembl	human	known	70_37	silent	SNP	0.997	C
ZMYM2	7750	genome.wustl.edu	37	13	20567387	20567387	+	Missense_Mutation	SNP	G	G	A	rs375763195		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr13:20567387G>A	ENST00000382874.2	+	4	365	c.175G>A	c.(175-177)Gat>Aat	p.D59N	ZMYM2_ENST00000382881.3_Missense_Mutation_p.D59N|ZMYM2_ENST00000382869.3_Missense_Mutation_p.D59N|ZMYM2_ENST00000382871.2_Missense_Mutation_p.D59N	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	59					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AGATGATGATGATGTTGTTTT	0.383																																																	0													114.0	105.0	108.0					13																	20567387		1966	4175	6141	SO:0001583	missense	7750			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.175G>A	13.37:g.20567387G>A	ENSP00000372327:p.Asp59Asn		A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.D59N	ENST00000382874.2	37	c.175	CCDS45016.1	13	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551837	0.86127	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382881;ENST00000382874;ENST00000382871	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.16	5.16	0.70880	.	0.000000	0.56097	D	0.000025	T	0.52354	0.1729	L	0.55990	1.75	0.80722	D	1	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.91635	0.995;0.995;0.999	T	0.43212	-0.9405	10	0.37606	T	0.19	2.6954	19.0049	0.92846	0.0:0.0:1.0:0.0	.	59;59;59	A8K126;Q9UBW7;Q9UBW7-2	.;ZMYM2_HUMAN;.	N	59	ENSP00000372322:D59N;ENSP00000372334:D59N;ENSP00000372327:D59N;ENSP00000372324:D59N	ENSP00000372322:D59N	D	+	1	0	ZMYM2	19465387	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.463000	0.80869	2.559000	0.86315	0.655000	0.94253	GAT	ZMYM2	-	NULL		0.383	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM2	HGNC	protein_coding	OTTHUMT00000044051.2	G	NM_003453		20567387	+1	no_errors	ENST00000382869	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF169	169841	genome.wustl.edu	37	9	97054889	97054890	+	Intron	INS	-	-	G	rs138361295|rs71500059|rs386418560|rs570000096		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr9:97054889_97054890insG	ENST00000395395.2	+	3	250				ZNF169_ENST00000481550.2_Intron|ZNF169_ENST00000480716.1_Intron|ZNF169_ENST00000340911.4_Intron|ZNF169_ENST00000375354.4_Intron	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				CACAGTGCAGTtgtgtgtgtgt	0.49																																																	0																																										SO:0001627	intron_variant	169841			U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"""Zinc fingers, C2H2-type"", ""-"""	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.160+140->G	9.37:g.97054889_97054890insG			A2AGP5|A8K127|Q6PI28	RNA	INS	-	NULL	ENST00000395395.2	37	NULL	CCDS6709.2	9																																																																																			ZNF169	-	-		0.490	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF169	HGNC	protein_coding	OTTHUMT00000253714.1	-	NM_194320		97054890	+1	no_errors	ENST00000492115	ensembl	human	known	70_37	rna	INS	0.001:0.006	G
ZNF300P1	134466	genome.wustl.edu	37	5	150310537	150310537	+	RNA	SNP	G	G	A	rs550254257		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:150310537G>A	ENST00000520773.1	-	0	2784									zinc finger protein 300 pseudogene 1 (functional)																		CCTGGGAGGTGAGACTTCTGA	0.443													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22516	0.0		0.0	False		,,,				2504	0.0																0																																												134466			AK096536		5q33.1	2014-09-11	2014-01-16		ENSG00000197083	ENSG00000197083		"""-"""	27032	pseudogene	pseudogene			"""zinc finger protein 300 pseudogene 1"""			24393131	Standard	NR_026867		Approved		uc003lsz.1		OTTHUMG00000154830		5.37:g.150310537G>A				RNA	SNP	-	NULL	ENST00000520773.1	37	NULL		5																																																																																			ZNF300P1	-	-		0.443	ZNF300P1-002	KNOWN	basic	processed_transcript	ZNF300P1	HGNC	pseudogene	OTTHUMT00000374771.1	G	NR_026867		150310537	-1	no_errors	ENST00000520773	ensembl	human	known	70_37	rna	SNP	0.003	A
ZNF335	63925	genome.wustl.edu	37	20	44592364	44592364	+	Intron	SNP	C	C	G	rs3746511	byFrequency	TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr20:44592364C>G	ENST00000322927.2	-	8	1456				ZNF335_ENST00000426788.1_Intron	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335						brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				ACCCTCACCTCTGCTCCACAT	0.597																																																	0													242.0	222.0	229.0					20																	44592364		2203	4300	6503	SO:0001627	intron_variant	63925			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.1355+12G>C	20.37:g.44592364C>G			B4DLG7|Q548D0|Q9H684	RNA	SNP	-	NULL	ENST00000322927.2	37	NULL	CCDS13389.1	20																																																																																			ZNF335	-	-		0.597	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF335	HGNC	protein_coding	OTTHUMT00000079553.1	C	NM_022095		44592364	-1	no_errors	ENST00000475002	ensembl	human	known	70_37	rna	SNP	0.000	G
ZNF407	55628	genome.wustl.edu	37	18	72345785	72345785	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr18:72345785C>T	ENST00000299687.5	+	1	2810	c.2810C>T	c.(2809-2811)tCa>tTa	p.S937L	ZNF407_ENST00000577538.1_Missense_Mutation_p.S937L|ZNF407_ENST00000582337.1_Missense_Mutation_p.S937L|ZNF407_ENST00000309902.6_Missense_Mutation_p.S937L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	937					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AATGCTGGCTCAGCAGTGACC	0.458																																																	0													60.0	61.0	60.0					18																	72345785		1917	4129	6046	SO:0001583	missense	55628			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.2810C>T	18.37:g.72345785C>T	ENSP00000299687:p.Ser937Leu		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2	p.S937L	ENST00000299687.5	37	c.2810	CCDS45885.1	18	.	.	.	.	.	.	.	.	.	.	C	4.662	0.123112	0.08931	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.10763	2.84;3.26	5.69	-0.234	0.13074	.	1.473130	0.04728	N	0.420549	T	0.08223	0.0205	N	0.19112	0.55	0.09310	N	1	B;B;B	0.14438	0.01;0.002;0.001	B;B;B	0.11329	0.006;0.004;0.002	T	0.41251	-0.9519	10	0.42905	T	0.14	.	7.6652	0.28426	0.0:0.4498:0.1036:0.4465	.	937;937;937	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	L	937	ENSP00000299687:S937L;ENSP00000310359:S937L	ENSP00000299687:S937L	S	+	2	0	ZNF407	70474773	0.000000	0.05858	0.001000	0.08648	0.113000	0.19764	-0.367000	0.07553	-0.814000	0.04352	0.455000	0.32223	TCA	ZNF407	-	NULL		0.458	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF407	HGNC	protein_coding	OTTHUMT00000444903.1	C	NM_017757		72345785	+1	no_errors	ENST00000299687	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNF480	147657	genome.wustl.edu	37	19	52803701	52803701	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:52803701G>A	ENST00000595962.1	+	2	102	c.36G>A	c.(34-36)aaG>aaA	p.K12K	ZNF480_ENST00000335090.6_5'UTR|CTD-2525I3.6_ENST00000594379.1_RNA|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF480_ENST00000334564.7_Silent_p.K12K|ZNF480_ENST00000490272.1_Silent_p.K12K	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	12					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		AGAGAAGGAAGAGGAAAGCAA	0.443																																																	0													171.0	137.0	148.0					19																	52803701		2203	4300	6503	SO:0001819	synonymous_variant	147657			AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.36G>A	19.37:g.52803701G>A			Q5JPG9|Q6P0Q4|Q8N1M5	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K12	ENST00000595962.1	37	c.36	CCDS12850.2	19																																																																																			ZNF480	-	NULL		0.443	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF480	HGNC	protein_coding	OTTHUMT00000349001.3	G	NM_144684		52803701	+1	no_errors	ENST00000468240	ensembl	human	known	70_37	silent	SNP	0.044	A
ZNF496	84838	genome.wustl.edu	37	1	247492661	247492661	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:247492661C>T	ENST00000294753.4	-	3	684	c.220G>A	c.(220-222)Gag>Aag	p.E74K	ZNF496_ENST00000366498.2_Missense_Mutation_p.E74K	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	74	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GTGTGCCTCTCAGGCCGCAGC	0.711																																																	0													21.0	26.0	24.0					1																	247492661		2203	4299	6502	SO:0001583	missense	84838			BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.220G>A	1.37:g.247492661C>T	ENSP00000294753:p.Glu74Lys		Q8TBS2	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E74K	ENST00000294753.4	37	c.220	CCDS1631.1	1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829497	0.71258	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.07216	3.21;3.21	4.27	3.32	0.38043	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.608349	0.14551	N	0.312657	T	0.31638	0.0803	M	0.88512	2.96	0.18873	N	0.999984	D;D	0.76494	0.996;0.999	D;D	0.76071	0.987;0.978	T	0.07177	-1.0786	9	.	.	.	-19.4239	9.3031	0.37858	0.2144:0.7856:0.0:0.0	.	74;74	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	K	74	ENSP00000294753:E74K;ENSP00000355454:E74K	.	E	-	1	0	ZNF496	245559284	0.896000	0.30565	0.029000	0.17559	0.978000	0.69477	2.835000	0.48175	1.089000	0.41292	0.561000	0.74099	GAG	ZNF496	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.711	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF496	HGNC	protein_coding	OTTHUMT00000098655.2	C	NM_032752		247492661	-1	no_errors	ENST00000366498	ensembl	human	known	70_37	missense	SNP	0.268	T
ZNF577	84765	genome.wustl.edu	37	19	52375874	52375874	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:52375874C>G	ENST00000301399.5	-	7	1734	c.1369G>C	c.(1369-1371)Gaa>Caa	p.E457Q	ZNF577_ENST00000451628.2_Missense_Mutation_p.E398Q|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000420592.1_Missense_Mutation_p.E398Q	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		ATTCTCTGTTCAAATTCCTGA	0.358																																																	0													63.0	60.0	61.0					19																	52375874		2203	4300	6503	SO:0001583	missense	84765			AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"""Zinc fingers, C2H2-type"", ""-"""	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.1369G>C	19.37:g.52375874C>G	ENSP00000301399:p.Glu457Gln		A8K0B4|A8K6Z7|C9JFB9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E457Q	ENST00000301399.5	37	c.1369	CCDS12842.2	19	.	.	.	.	.	.	.	.	.	.	.	4.614	0.114024	0.08831	.	.	ENSG00000161551	ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390	T;T;T;T	0.06768	3.27;3.31;3.31;3.26	2.72	-5.44	0.02624	.	.	.	.	.	T	0.04092	0.0114	N	0.22421	0.69	0.09310	N	1	B;B	0.26483	0.092;0.15	B;B	0.17098	0.01;0.017	T	0.32428	-0.9907	9	0.46703	T	0.11	.	2.5704	0.04793	0.2334:0.1253:0.1081:0.5331	.	457;398	Q9BSK1;Q9BSK1-2	ZN577_HUMAN;.	Q	457;398;398;457	ENSP00000301399:E457Q;ENSP00000413476:E398Q;ENSP00000389652:E398Q;ENSP00000404509:E457Q	ENSP00000301399:E457Q	E	-	1	0	ZNF577	57067686	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.998000	0.03701	-2.120000	0.00826	-0.140000	0.14226	GAA	ZNF577	-	NULL		0.358	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF577	HGNC	protein_coding	OTTHUMT00000347243.1	C	NM_032679		52375874	-1	no_errors	ENST00000301399	ensembl	human	known	70_37	missense	SNP	0.000	G
ZNF605	100289635	genome.wustl.edu	37	12	133502070	133502070	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr12:133502070C>T	ENST00000360187.4	-	5	2163	c.1815G>A	c.(1813-1815)atG>atA	p.M605I	ZNF605_ENST00000392321.3_Missense_Mutation_p.M636I|ZNF605_ENST00000331711.7_5'Flank	NM_183238.3	NP_899061.1	Q86T29	ZN605_HUMAN	zinc finger protein 605	605					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00227)|all_epithelial(31;0.142)		OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06)		TCTGATGCCTCATAAGGTGTG	0.408																																																	0													122.0	113.0	116.0					12																	133502070		2203	4300	6503	SO:0001583	missense	100289635			AL832623	CCDS31938.1, CCDS53850.1	12q24.33	2013-01-08	2009-09-11	2009-09-11		ENSG00000196458		"""Zinc fingers, C2H2-type"", ""-"""	28068	protein-coding gene	gene with protein product							Standard	NM_183238		Approved		uc001uli.3	Q86T29		ENST00000360187.4:c.1815G>A	12.37:g.133502070C>T	ENSP00000353314:p.Met605Ile		B3KVG4|D3DXJ0|Q86T91	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.M605I	ENST00000360187.4	37	c.1815	CCDS31938.1	12	.	.	.	.	.	.	.	.	.	.	C	1.927	-0.447010	0.04572	.	.	ENSG00000196458	ENST00000360187;ENST00000392321	T;T	0.50277	0.75;0.75	3.72	1.65	0.23941	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14874	0.0359	N	0.01631	-0.79	0.09310	N	1	B;B	0.12013	0.005;0.0	B;B	0.11329	0.006;0.001	T	0.31888	-0.9927	9	0.07644	T	0.81	.	2.9594	0.05887	0.4175:0.3876:0.0:0.1948	.	636;605	B3KVG4;Q86T29	.;ZN605_HUMAN	I	605;636	ENSP00000353314:M605I;ENSP00000376135:M636I	ENSP00000353314:M605I	M	-	3	0	ZNF605	132012143	0.000000	0.05858	0.990000	0.47175	0.985000	0.73830	-3.338000	0.00506	0.894000	0.36317	0.462000	0.41574	ATG	ZNF605	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF605-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF605	HGNC	protein_coding	OTTHUMT00000397135.2	C	NM_183238		133502070	-1	no_errors	ENST00000360187	ensembl	human	known	70_37	missense	SNP	0.002	T
ZNF608	57507	genome.wustl.edu	37	5	123984460	123984460	+	Silent	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:123984460C>T	ENST00000306315.5	-	4	2052	c.1617G>A	c.(1615-1617)gaG>gaA	p.E539E	ZNF608_ENST00000504926.1_Silent_p.E112E	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	539							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		AAAAAGTAGTCTCTGGTTTCC	0.507																																																	0													160.0	152.0	154.0					5																	123984460		2203	4300	6503	SO:0001819	synonymous_variant	57507			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1617G>A	5.37:g.123984460C>T			A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Silent	SNP	NULL	p.E539	ENST00000306315.5	37	c.1617	CCDS34219.1	5																																																																																			ZNF608	-	NULL		0.507	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF608	HGNC	protein_coding	OTTHUMT00000371300.1	C	XM_114432		123984460	-1	no_errors	ENST00000306315	ensembl	human	known	70_37	silent	SNP	1.000	T
ZNF615	284370	genome.wustl.edu	37	19	52497885	52497885	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:52497885C>G	ENST00000602063.1	-	6	793	c.444G>C	c.(442-444)agG>agC	p.R148S	ZNF615_ENST00000598071.1_Missense_Mutation_p.R159S|ZNF615_ENST00000594083.1_Missense_Mutation_p.R159S|ZNF615_ENST00000376716.5_Missense_Mutation_p.R148S|ZNF615_ENST00000391795.3_Missense_Mutation_p.R153S			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	148					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GGCCAGAGCTCCTTTTCTGGT	0.338																																																	0													59.0	64.0	62.0					19																	52497885		2196	4292	6488	SO:0001583	missense	284370			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.444G>C	19.37:g.52497885C>G	ENSP00000473089:p.Arg148Ser		B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R159S	ENST00000602063.1	37	c.477	CCDS12846.1	19	.	.	.	.	.	.	.	.	.	.	C	4.754	0.140124	0.09083	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.07800	3.19;3.16	3.08	0.625	0.17665	.	.	.	.	.	T	0.09686	0.0238	M	0.67700	2.07	0.09310	N	1	B;B;B;B	0.22414	0.041;0.069;0.069;0.041	B;B;B;B	0.24848	0.017;0.056;0.056;0.01	T	0.31194	-0.9952	9	0.40728	T	0.16	.	4.6225	0.12461	0.0:0.4226:0.0:0.5774	.	153;155;159;148	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	S	148;158;153;158	ENSP00000365906:R148S;ENSP00000375672:R153S	ENSP00000347019:R158S	R	-	3	2	ZNF615	57189697	0.000000	0.05858	0.011000	0.14972	0.369000	0.29798	-0.955000	0.03869	0.300000	0.22699	-0.345000	0.07892	AGG	ZNF615	-	NULL		0.338	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF615	HGNC	protein_coding	OTTHUMT00000462391.1	C	NM_198480		52497885	-1	no_errors	ENST00000594083	ensembl	human	known	70_37	missense	SNP	0.002	G
ZNF621	285268	genome.wustl.edu	37	3	40573774	40573774	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:40573774G>C	ENST00000339296.5	+	5	965	c.513G>C	c.(511-513)atG>atC	p.M171I	ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000403205.2_Missense_Mutation_p.M171I|ZNF621_ENST00000431278.1_Missense_Mutation_p.M60I	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	171					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		GGCATCAGATGAGTCATACTG	0.383																																																	0													85.0	80.0	82.0					3																	40573774		2203	4300	6503	SO:0001583	missense	285268			AK127181	CCDS2693.1, CCDS74920.1	3p21.33	2013-01-08			ENSG00000172888	ENSG00000172888		"""Zinc fingers, C2H2-type"", ""-"""	24787	protein-coding gene	gene with protein product							Standard	XM_005265079		Approved	FLJ45246	uc003ckm.2	Q6ZSS3	OTTHUMG00000131389	ENST00000339296.5:c.513G>C	3.37:g.40573774G>C	ENSP00000340841:p.Met171Ile		Q14DC7|Q8TE91	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.M171I	ENST00000339296.5	37	c.513	CCDS2693.1	3	.	.	.	.	.	.	.	.	.	.	g	8.575	0.880849	0.17467	.	.	ENSG00000172888	ENST00000403205;ENST00000339296;ENST00000431278	T;T;T	0.16897	2.31;2.31;2.31	4.07	3.19	0.36642	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.556583	0.16461	N	0.213440	T	0.09069	0.0224	N	0.04090	-0.28	0.80722	D	1	P;B	0.35208	0.49;0.001	B;B	0.39706	0.307;0.01	T	0.19647	-1.0299	10	0.56958	D	0.05	.	6.6798	0.23113	0.2095:0.0:0.7905:0.0	.	60;171	C9JZC2;Q6ZSS3	.;ZN621_HUMAN	I	171;171;60	ENSP00000386051:M171I;ENSP00000340841:M171I;ENSP00000413236:M60I	ENSP00000340841:M171I	M	+	3	0	ZNF621	40548778	0.000000	0.05858	0.994000	0.49952	0.259000	0.26198	-0.063000	0.11655	1.315000	0.45114	-0.122000	0.15005	ATG	ZNF621	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF621	HGNC	protein_coding	OTTHUMT00000254178.2	G	NM_198484		40573774	+1	no_errors	ENST00000339296	ensembl	human	known	70_37	missense	SNP	0.970	C
ZNF716	441234	genome.wustl.edu	37	7	57529078	57529078	+	Missense_Mutation	SNP	C	C	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:57529078C>A	ENST00000420713.1	+	4	1023	c.911C>A	c.(910-912)gCc>gAc	p.A304D		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						TGTGGCAAAGCCTTTAGCCGC	0.423																																																	0													38.0	37.0	38.0					7																	57529078		692	1591	2283	SO:0001583	missense	441234			AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.911C>A	7.37:g.57529078C>A	ENSP00000394248:p.Ala304Asp			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A304D	ENST00000420713.1	37	c.911	CCDS55112.1	7	.	.	.	.	.	.	.	.	.	.	C	11.16	1.556672	0.27827	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.01005	5.45	0.109	0.109	0.14578	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02494	0.0076	M	0.67953	2.075	0.22675	N	0.998867	D	0.59767	0.986	P	0.57720	0.826	T	0.44574	-0.9319	9	0.72032	D	0.01	.	3.7025	0.08387	2.0E-4:0.5106:0.4891:1.0E-4	.	292	A6NP11	ZN716_HUMAN	D	304;292	ENSP00000394248:A304D	ENSP00000387687:A292D	A	+	2	0	ZNF716	57533020	0.000000	0.05858	0.149000	0.22428	0.150000	0.21749	-0.296000	0.08287	0.181000	0.19994	0.184000	0.17185	GCC	ZNF716	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF716	HGNC	protein_coding	OTTHUMT00000345309.1	C	NM_001159279		57529078	+1	no_errors	ENST00000420713	ensembl	human	known	70_37	missense	SNP	0.720	A
ZNF750	79755	genome.wustl.edu	37	17	80789552	80789553	+	Frame_Shift_Ins	INS	-	-	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:80789552_80789553insG	ENST00000269394.3	-	2	1611_1612	c.778_779insC	c.(778-780)ctgfs	p.L260fs	ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	260					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCCAGCCAGCAGGTAAGGCGAG	0.619																																																	0																																										SO:0001589	frameshift_variant	79755			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.779dupC	17.37:g.80789554_80789554dupG	ENSP00000269394:p.Leu260fs		Q9H899	Frame_Shift_Ins	INS	NULL	p.L260fs	ENST00000269394.3	37	c.779_778	CCDS11819.1	17																																																																																			ZNF750	-	NULL		0.619	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2	-	NM_024702		80789553	-1	no_errors	ENST00000269394	ensembl	human	known	70_37	frame_shift_ins	INS	0.484:0.793	G
ZNF805	390980	genome.wustl.edu	37	19	57764604	57764604	+	Silent	SNP	G	G	A			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:57764604G>A	ENST00000414468.2	+	4	417	c.417G>A	c.(415-417)ttG>ttA	p.L139L	ZNF805_ENST00000535550.1_Silent_p.L6L|ZNF805_ENST00000354309.4_Silent_p.L6L	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	139					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						GAGAACGCTTGAGACCAGGGT	0.478																																																	0													124.0	111.0	115.0					19																	57764604		692	1591	2283	SO:0001819	synonymous_variant	390980			AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"""Zinc fingers, C2H2-type"", ""-"""	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.417G>A	19.37:g.57764604G>A			B4DNM5	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L139	ENST00000414468.2	37	c.417	CCDS46207.1	19																																																																																			ZNF805	-	NULL		0.478	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF805	HGNC	protein_coding	OTTHUMT00000465722.1	G	NM_001023563		57764604	+1	no_errors	ENST00000414468	ensembl	human	known	70_37	silent	SNP	0.000	A
ZNF839	55778	genome.wustl.edu	37	14	102798158	102798158	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr14:102798158C>T	ENST00000558850.1	+	3	1393	c.1043C>T	c.(1042-1044)tCg>tTg	p.S348L	ZNF839_ENST00000442396.2_Missense_Mutation_p.S464L|ZNF839_ENST00000262236.5_Missense_Mutation_p.S348L|ZNF839_ENST00000559185.1_Missense_Mutation_p.S348L	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	348							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGAGGGCGTCGCCAAGCAAA	0.567																																																	0													26.0	31.0	29.0					14																	102798158		2013	4180	6193	SO:0001583	missense	55778			AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 131"""	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.1043C>T	14.37:g.102798158C>T	ENSP00000453363:p.Ser348Leu		B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.S464L	ENST00000558850.1	37	c.1391	CCDS58336.1	14	.	.	.	.	.	.	.	.	.	.	C	6.286	0.420802	0.11928	.	.	ENSG00000022976	ENST00000442396;ENST00000262236	T;T	0.18657	2.2;2.21	3.79	1.31	0.21738	.	.	.	.	.	T	0.08044	0.0201	L	0.27053	0.805	0.09310	N	1	P;P;P	0.43431	0.807;0.593;0.593	B;B;B	0.29524	0.103;0.062;0.062	T	0.14896	-1.0456	9	0.10902	T	0.67	.	3.1178	0.06381	0.0:0.5216:0.2768:0.2016	.	464;227;348	A8K0R7-5;Q9NT83;A8K0R7	.;.;ZN839_HUMAN	L	464;348	ENSP00000399863:S464L;ENSP00000262236:S348L	ENSP00000262236:S348L	S	+	2	0	ZNF839	101867911	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.441000	0.06879	0.688000	0.31529	0.555000	0.69702	TCG	ZNF839	-	NULL		0.567	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF839	HGNC	protein_coding	OTTHUMT00000415492.2	C	NM_018335		102798158	+1	no_errors	ENST00000442396	ensembl	human	known	70_37	missense	SNP	0.001	T
ZNF879	345462	genome.wustl.edu	37	5	178460262	178460262	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:178460262C>G	ENST00000444149.2	+	5	1501	c.1313C>G	c.(1312-1314)tCt>tGt	p.S438C		NM_001136116.1	NP_001129588.1	B4DU55	ZN879_HUMAN	zinc finger protein 879	438					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|pancreas(1)|stomach(1)	7						AAAGCCTTCTCTTGGATTTCA	0.413																																																	0													53.0	50.0	51.0					5																	178460262		692	1591	2283	SO:0001583	missense	345462			AK300504	CCDS47352.1	5q35.3	2013-01-08			ENSG00000234284	ENSG00000234284		"""Zinc fingers, C2H2-type"", ""-"""	37273	protein-coding gene	gene with protein product							Standard	NM_001136116		Approved	DKFZp686E2433	uc003mjt.4	B4DU55	OTTHUMG00000163596	ENST00000444149.2:c.1313C>G	5.37:g.178460262C>G	ENSP00000414887:p.Ser438Cys			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S438C	ENST00000444149.2	37	c.1313	CCDS47352.1	5	.	.	.	.	.	.	.	.	.	.	C	12.94	2.088211	0.36855	.	.	ENSG00000234284	ENST00000444149	T	0.08102	3.13	4.33	2.37	0.29283	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10252	0.0251	L	0.37800	1.135	0.09310	N	1	D	0.65815	0.995	P	0.52598	0.703	T	0.23655	-1.0182	9	0.87932	D	0	-10.202	2.7362	0.05241	0.1908:0.5227:0.1845:0.102	.	438	B4DU55	ZN879_HUMAN	C	438	ENSP00000414887:S438C	ENSP00000414887:S438C	S	+	2	0	ZNF879	178392868	0.000000	0.05858	0.995000	0.50966	0.793000	0.44817	-0.598000	0.05706	1.143000	0.42306	0.655000	0.94253	TCT	ZNF879	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF879-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF879	HGNC	protein_coding	OTTHUMT00000374447.1	C	NM_001136116		178460262	+1	no_errors	ENST00000444149	ensembl	human	known	70_37	missense	SNP	0.045	G
ZNRD1	30834	genome.wustl.edu	37	6	30030070	30030070	+	Missense_Mutation	SNP	G	G	T			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:30030070G>T	ENST00000332435.5	+	3	587	c.316G>T	c.(316-318)Gat>Tat	p.D106Y	ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1_ENST00000359374.4_Missense_Mutation_p.D106Y|ZNRD1-AS1_ENST00000437417.1_RNA|ZNRD1-AS1_ENST00000421692.1_RNA|ZNRD1-AS1_ENST00000452229.1_RNA|ZNRD1-AS1_ENST00000376797.3_RNA|ZNRD1-AS1_ENST00000431012.1_RNA|ZNRD1_ENST00000376785.2_Missense_Mutation_p.D106Y|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1_ENST00000463141.1_3'UTR|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1_ENST00000376782.2_Missense_Mutation_p.D106Y	NM_170783.2	NP_740753.1	Q9P1U0	RPA12_HUMAN	zinc ribbon domain containing 1	106					nucleobase-containing compound metabolic process (GO:0006139)|termination of RNA polymerase I transcription (GO:0006363)	DNA-directed RNA polymerase I complex (GO:0005736)	DNA-directed RNA polymerase activity (GO:0003899)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)										GCGTTCAGCCGATGAAGGGCA	0.507																																																	0													180.0	118.0	140.0					6																	30030070		1511	2709	4220	SO:0001583	missense	30834			AF024617	CCDS4670.1	6p21	2011-02-18	2006-04-04		ENSG00000066379	ENSG00000066379			13182	protein-coding gene	gene with protein product		607525	"""zinc ribbon domain containing, 1"""			8938444, 10662553	Standard	NM_170783		Approved	hZR14, HTEX-6, tctex-6, RPA12	uc003npa.3	Q9P1U0	OTTHUMG00000031149	ENST00000332435.5:c.316G>T	6.37:g.30030070G>T	ENSP00000331111:p.Asp106Tyr			Missense_Mutation	SNP	pfam_Znf_TFIIS,smart_Znf_TFIIS,pfscan_Znf_TFIIS	p.D106Y	ENST00000332435.5	37	c.316	CCDS4670.1	6	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561945	0.86335	.	.	ENSG00000066379	ENST00000332435;ENST00000376782;ENST00000359374;ENST00000376785	T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66	5.18	5.18	0.71444	Zinc finger, TFIIS-type (4);	0.000000	0.85682	D	0.000000	D	0.88392	0.6424	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91600	0.5294	10	0.87932	D	0	-19.3666	16.2286	0.82318	0.0:0.0:1.0:0.0	.	106	Q9P1U0	RPA12_HUMAN	Y	106	ENSP00000331111:D106Y;ENSP00000365978:D106Y;ENSP00000352333:D106Y;ENSP00000365981:D106Y	ENSP00000331111:D106Y	D	+	1	0	ZNRD1	30138049	1.000000	0.71417	0.397000	0.26308	0.903000	0.53119	8.137000	0.89612	2.702000	0.92279	0.643000	0.83706	GAT	ZNRD1	-	pfam_Znf_TFIIS,smart_Znf_TFIIS,pfscan_Znf_TFIIS		0.507	ZNRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNRD1	HGNC	protein_coding	OTTHUMT00000076272.2	G			30030070	+1	no_errors	ENST00000332435	ensembl	human	known	70_37	missense	SNP	0.996	T
