#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
LCE2B	26239	broad.mit.edu	37	1	152659492	152659492	+	Missense_Mutation	SNP	C	C	A			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr1:152659492C>A	ENST00000368780.3	+	2	227	c.173C>A	c.(172-174)cCc>cAc	p.P58H	LCE2B_ENST00000417924.2_Missense_Mutation_p.P58H	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	58	Cys-rich.				epidermis development (GO:0008544)|keratinization (GO:0031424)					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGTGGTCCCAGCTCTGGG	0.667																																						ENST00000368780.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11						c.(172-174)cCc>cAc		late cornified envelope 2B							103.0	119.0	113.0					1																	152659492		2203	4300	6503	SO:0001583	missense	26239				keratinization			g.chr1:152659492C>A	BI670514	CCDS1020.1	1q21	2008-02-05	2004-10-11	2004-10-15	ENSG00000159455	ENSG00000159455		"""Late cornified envelopes"""	16610	protein-coding gene	gene with protein product		612610	"""small proline rich-like (epidermal differentiation complex) 1B"""	SPRL1B		11698679, 9344646	Standard	NM_014357		Approved	LEP10, XP5	uc001fai.3	O14633	OTTHUMG00000012404	ENST00000368780.3:c.173C>A	1.37:g.152659492C>A	ENSP00000357769:p.Pro58His					LCE2B_ENST00000417924.2_Missense_Mutation_p.P58H	p.P58H	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	227	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		58			Cys-rich.		Q5TA80	Missense_Mutation	SNP	ENST00000368780.3	37	c.173C>A	CCDS1020.1	.	.	.	.	.	.	.	.	.	.	C	0.171	-1.071260	0.01918	.	.	ENSG00000159455	ENST00000417924;ENST00000368780	T;T	0.04049	3.72;3.72	2.49	0.482	0.16815	.	.	.	.	.	T	0.01627	0.0052	L	0.50333	1.59	0.19945	N	0.999943	B	0.20164	0.042	B	0.17098	0.017	T	0.44498	-0.9324	9	0.87932	D	0	.	4.5339	0.12019	0.0:0.6472:0.0:0.3528	.	58	O14633	LCE2B_HUMAN	H	58	ENSP00000414043:P58H;ENSP00000357769:P58H	ENSP00000357769:P58H	P	+	2	0	LCE2B	150926116	0.030000	0.19436	0.139000	0.22197	0.053000	0.15095	0.161000	0.16481	-0.140000	0.11394	0.313000	0.20887	CCC		0.667	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034524.1	NM_014357		9	199	1	0	1.08611e-07	1	1.25581e-07	9	199				
EVPL	2125	broad.mit.edu	37	17	74005109	74005109	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr17:74005109C>T	ENST00000301607.3	-	22	4430	c.4177G>A	c.(4177-4179)Ggg>Agg	p.G1393R	EVPL_ENST00000586740.1_Missense_Mutation_p.G1415R	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1393	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCCAGGCTCCCGCTCAGCCGG	0.692																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(4177-4179)Ggg>Agg		envoplakin							48.0	54.0	52.0					17																	74005109		2194	4278	6472	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74005109C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.4177G>A	17.37:g.74005109C>T	ENSP00000301607:p.Gly1393Arg					EVPL_ENST00000586740.1_Missense_Mutation_p.G1415R	p.G1393R	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	4430	-			1393			Central fibrous rod domain.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.4177G>A	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.471710	0.00167	.	.	ENSG00000167880	ENST00000301607	T	0.38401	1.14	5.55	1.31	0.21738	.	0.586399	0.17556	N	0.169995	T	0.05318	0.0141	N	0.00112	-2.095	0.18873	N	0.999989	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36261	-0.9755	10	0.05351	T	0.99	-11.6658	2.8808	0.05646	0.1306:0.1151:0.4031:0.3512	.	1415;1393	B7ZLH8;Q92817	.;EVPL_HUMAN	R	1393	ENSP00000301607:G1393R	ENSP00000301607:G1393R	G	-	1	0	EVPL	71516704	0.739000	0.28196	0.276000	0.24689	0.154000	0.21943	1.066000	0.30604	0.047000	0.15862	-0.128000	0.14901	GGG		0.692	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		4	73	0	0	0	1	0	4	73				
CYP2C9	1559	broad.mit.edu	37	10	96702050	96702050	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr10:96702050G>A	ENST00000260682.6	+	3	445	c.433G>A	c.(433-435)Gtt>Att	p.V145I	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	145					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGAGGACCGTGTTCAAGAGGA	0.493																																					Ovarian(54;1266 1406 16072 35076)	ENST00000260682.6																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(433-435)Gtt>Att		cytochrome P450, family 2, subfamily C, polypeptide 9	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)						156.0	147.0	150.0					10																	96702050		2203	4297	6500	SO:0001583	missense	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96702050G>A	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.433G>A	10.37:g.96702050G>A	ENSP00000260682:p.Val145Ile					CYP2C9_ENST00000461906.1_3'UTR	p.V145I	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	3	445	+		Colorectal(252;0.0902)	145					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	c.433G>A	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	1.679	-0.507087	0.04231	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.69175	-0.38	3.54	-1.16	0.09678	.	0.078591	0.48767	U	0.000164	T	0.34658	0.0905	N	0.04260	-0.245	0.27866	N	0.940223	B;B;B	0.14805	0.011;0.011;0.011	B;B;B	0.28638	0.019;0.019;0.092	T	0.38045	-0.9679	10	0.02654	T	1	.	7.8522	0.29462	0.5606:0.0:0.4394:0.0	.	145;145;145	Q5VX92;P11712;Q8WW80	.;CP2C9_HUMAN;.	I	145	ENSP00000260682:V145I	ENSP00000260682:V145I	V	+	1	0	CYP2C9	96692040	0.093000	0.21703	0.078000	0.20375	0.840000	0.47671	0.495000	0.22483	-0.373000	0.07979	0.484000	0.47621	GTT		0.493	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		5	162	0	0	0	1	0	5	162				
KRT37	8688	broad.mit.edu	37	17	39578677	39578677	+	Missense_Mutation	SNP	T	T	C			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr17:39578677T>C	ENST00000225550.3	-	4	741	c.742A>G	c.(742-744)Att>Gtt	p.I248V	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	248	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CTCCTCAGAATCTTTACTTCC	0.557																																						ENST00000225550.3																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25						c.(742-744)Att>Gtt		keratin 37							124.0	125.0	125.0					17																	39578677		2203	4300	6503	SO:0001583	missense	8688					intermediate filament	structural molecule activity	g.chr17:39578677T>C	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.742A>G	17.37:g.39578677T>C	ENSP00000225550:p.Ile248Val					AC003958.2_ENST00000432258.1_RNA	p.I248V	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN			4	741	-		Breast(137;0.000496)	248			Coil 1B.|Rod.			Missense_Mutation	SNP	ENST00000225550.3	37	c.742A>G	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	.	2.430	-0.331069	0.05314	.	.	ENSG00000108417	ENST00000225550	D	0.88354	-2.37	4.95	2.58	0.30949	Filament (1);	0.598021	0.14463	N	0.318076	T	0.67505	0.2900	N	0.01761	-0.735	0.09310	N	1	B	0.13145	0.007	B	0.15484	0.013	T	0.56323	-0.7998	10	0.30078	T	0.28	.	1.3481	0.02167	0.3042:0.0866:0.1578:0.4515	.	248	O76014	KRT37_HUMAN	V	248	ENSP00000225550:I248V	ENSP00000225550:I248V	I	-	1	0	KRT37	36832203	0.000000	0.05858	0.006000	0.13384	0.970000	0.65996	-2.058000	0.01394	0.182000	0.20032	0.533000	0.62120	ATT		0.557	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		4	134	0	0	0	1	0	4	134				
CRYGC	1420	broad.mit.edu	37	2	208993026	208993026	+	Silent	SNP	C	C	T			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr2:208993026C>T	ENST00000282141.3	-	3	463	c.426G>A	c.(424-426)cgG>cgA	p.R142R		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	142	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GCAGGTATTGCCGCCCCCGGT	0.622																																						ENST00000282141.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9						c.(424-426)cgG>cgA		crystallin, gamma C							55.0	58.0	57.0					2																	208993026		2203	4300	6503	SO:0001819	synonymous_variant	1420				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens	g.chr2:208993026C>T		CCDS2379.1	2q33.3	2013-02-14			ENSG00000163254	ENSG00000163254			2410	protein-coding gene	gene with protein product		123680		CRYG3			Standard	NM_020989		Approved		uc002vco.4	P07315	OTTHUMG00000132942	ENST00000282141.3:c.426G>A	2.37:g.208993026C>T							p.R142R	NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)	3	463	-			142			Beta/gamma crystallin 'Greek key' 4.		Q53R50	Silent	SNP	ENST00000282141.3	37	c.426G>A	CCDS2379.1																																																																																				0.622	CRYGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256474.1	NM_020989		4	98	0	0	0	1	0	4	98				
ANKRD30B	374860	broad.mit.edu	37	18	14787073	14787073	+	Missense_Mutation	SNP	G	G	T	rs372948852		TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr18:14787073G>T	ENST00000358984.4	+	15	1888	c.1708G>T	c.(1708-1710)Gat>Tat	p.D570Y	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.D570Y|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	570										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ACAAAAGGACGATGAAGAAAA	0.289																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(1708-1710)Gat>Tat		ankyrin repeat domain 30B							171.0	145.0	152.0					18																	14787073		692	1585	2277	SO:0001583	missense	374860							g.chr18:14787073G>T	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1708G>T	18.37:g.14787073G>T	ENSP00000351875:p.Asp570Tyr					ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.D570Y	p.D570Y	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			15	1888	+			570					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.1708G>T	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	0.013	-1.632882	0.00806	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.05855	3.38;3.38	1.15	0.246	0.15516	.	.	.	.	.	T	0.04182	0.0116	L	0.31752	0.955	0.09310	N	1	D	0.53312	0.959	B	0.40134	0.32	T	0.40421	-0.9564	9	0.39692	T	0.17	.	4.2079	0.10497	0.2405:0.0:0.7595:0.0	.	570	F8WAG3	.	Y	570	ENSP00000351875:D570Y;ENSP00000399031:D570Y	ENSP00000351875:D570Y	D	+	1	0	ANKRD30B	14777073	0.016000	0.18221	0.000000	0.03702	0.002000	0.02628	-0.106000	0.10890	0.032000	0.15435	-1.377000	0.01181	GAT		0.289	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		4	97	1	0	0.150653	1	0.150653	4	97				
NKTR	4820	broad.mit.edu	37	3	42687435	42687435	+	Missense_Mutation	SNP	C	C	T	rs201167801		TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr3:42687435C>T	ENST00000232978.8	+	17	4545	c.4357C>T	c.(4357-4359)Cgg>Tgg	p.R1453W	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1453					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CTCTCATCACCGGAGCCCCAG	0.353																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(4357-4359)Cgg>Tgg		natural killer-tumor recognition sequence							61.0	64.0	63.0					3																	42687435		2203	4300	6503	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42687435C>T		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.4357C>T	3.37:g.42687435C>T	ENSP00000232978:p.Arg1453Trp					RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	p.R1453W	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	17	4545	+			1453						Missense_Mutation	SNP	ENST00000232978.8	37	c.4357C>T	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092034	0.55968	.	.	ENSG00000114857	ENST00000232978	T	0.21734	1.99	5.96	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.45155	0.1328	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.45293	-0.9271	10	0.87932	D	0	-9.2383	14.2711	0.66152	0.3829:0.6171:0.0:0.0	.	1153;1453	Q6M1B8;P30414	.;NKTR_HUMAN	W	1453	ENSP00000232978:R1453W	ENSP00000232978:R1453W	R	+	1	2	NKTR	42662439	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.740000	0.38228	1.509000	0.48786	0.655000	0.94253	CGG		0.353	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		3	22	0	0	0	1	0	3	22				
ZPLD1	131368	broad.mit.edu	37	3	102196341	102196341	+	Nonsense_Mutation	SNP	C	C	A			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr3:102196341C>A	ENST00000491959.1	+	18	2009	c.1127C>A	c.(1126-1128)tCa>tAa	p.S376*	ZPLD1_ENST00000306176.1_Nonsense_Mutation_p.S392*|ZPLD1_ENST00000466937.1_Nonsense_Mutation_p.S376*			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	376						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GCACTGATATCAGGAATGGTC	0.473																																						ENST00000306176.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						c.(1174-1176)tCa>tAa		zona pellucida-like domain containing 1							220.0	216.0	217.0					3																	102196341		2203	4300	6503	SO:0001587	stop_gained	131368					integral to membrane		g.chr3:102196341C>A	AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.1127C>A	3.37:g.102196341C>A	ENSP00000420265:p.Ser376*					ZPLD1_ENST00000491959.1_Nonsense_Mutation_p.S376*|ZPLD1_ENST00000466937.1_Nonsense_Mutation_p.S376*	p.S392*	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN			11	1275	+			376					Q49AS1|Q8WU36	Nonsense_Mutation	SNP	ENST00000491959.1	37	c.1175C>A		.	.	.	.	.	.	.	.	.	.	C	38	7.059394	0.98036	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	.	.	.	5.97	5.09	0.68999	.	0.130110	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.61	15.589	0.76510	0.0:0.9329:0.0:0.0671	.	.	.	.	X	376;392;376	.	ENSP00000307801:S392X	S	+	2	0	ZPLD1	103679031	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.454000	0.66651	2.831000	0.97527	0.655000	0.94253	TCA		0.473	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		7	202	1	0	8.12818e-05	1	9.11342e-05	7	202				
MUC4	4585	broad.mit.edu	37	3	195505842	195505842	+	Silent	SNP	T	T	G			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr3:195505842T>G	ENST00000463781.3	-	2	13068	c.12609A>C	c.(12607-12609)acA>acC	p.T4203T	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.T4203T	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)		TGGCGTGACCTGTGGATGCTG	0.597																																						ENST00000463781.3																			0				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						c.(12607-12609)acA>acC		mucin 4, cell surface associated							16.0	14.0	15.0					3																	195505842		691	1577	2268	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505842T>G	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.12609A>C	3.37:g.195505842T>G						MUC4_ENST00000475231.1_Silent_p.T4203T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	p.T4203T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	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)	2	13068	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	966					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.12609A>C	CCDS54700.1																																																																																				0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	2	0	0	0	1	0	3	2				
MAGOH	4116	broad.mit.edu	37	1	53692717	53692717	+	Silent	SNP	C	C	T	rs200084732	byFrequency	TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr1:53692717C>T	ENST00000371470.3	-	5	602	c.441G>A	c.(439-441)taG>taA	p.*147*	MAGOH_ENST00000371466.4_Silent_p.*110*|RP5-1024G6.7_ENST00000569869.1_RNA	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	0					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)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|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)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						AATATTCAGTCTAGATTGGTT	0.368																																					Colon(150;521 2416 7674 18129)	ENST00000371470.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						c.(439-441)taG>taA		mago-nashi homolog, proliferation-associated (Drosophila)																																				SO:0001819	synonymous_variant	4116				mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding	g.chr1:53692717C>T	AF035940	CCDS577.1	1p32.3	2010-04-16	2001-11-28		ENSG00000162385	ENSG00000162385			6815	protein-coding gene	gene with protein product		602603	"""mago-nashi (Drosophila) homolog, proliferation-associated"""			9479507	Standard	NM_002370		Approved	MAGOHA, MAGOH1	uc001cvf.2	P61326	OTTHUMG00000008932	ENST00000371470.3:c.441G>A	1.37:g.53692717C>T						MAGOH_ENST00000371466.4_Silent_p.*110*	p.*147*	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN			5	602	-			0					B1ARP8|B2R5A2|O35169|P50606|Q5SW69	Silent	SNP	ENST00000371470.3	37	c.441G>A	CCDS577.1																																																																																				0.368	MAGOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024730.1	NM_002370		3	59	0	0	0	1	0	3	59				
LHX1	3975	broad.mit.edu	37	17	35298029	35298029	+	Missense_Mutation	SNP	C	C	A			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr17:35298029C>A	ENST00000254457.5	+	3	1931	c.520C>A	c.(520-522)Cag>Aag	p.Q174K	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	174					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				GAATGACGACCAGAACCTGGG	0.642																																						ENST00000254457.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(520-522)Cag>Aag		LIM homeobox 1							47.0	51.0	49.0					17																	35298029		2203	4300	6503	SO:0001583	missense	3975				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr17:35298029C>A	U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"""Homeoboxes / LIM class"""	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.520C>A	17.37:g.35298029C>A	ENSP00000254457:p.Gln174Lys					RP11-445F12.2_ENST00000607336.1_RNA	p.Q174K	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN			3	1931	+		Breast(25;0.00607)	174					Q3MIW0	Missense_Mutation	SNP	ENST00000254457.5	37	c.520C>A	CCDS11316.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544872	0.65198	.	.	ENSG00000132130	ENST00000254457	D	0.95622	-3.76	4.26	4.26	0.50523	Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.64402	D	0.000001	D	0.93779	0.8011	L	0.55990	1.75	0.80722	D	1	P;D	0.58970	0.629;0.984	B;P	0.47673	0.218;0.554	D	0.91772	0.5428	10	0.06236	T	0.91	.	17.9822	0.89145	0.0:1.0:0.0:0.0	.	160;174	B4DPA6;P48742	.;LHX1_HUMAN	K	174	ENSP00000254457:Q174K	ENSP00000254457:Q174K	Q	+	1	0	LHX1	32372142	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.809000	0.69172	2.648000	0.89879	0.561000	0.74099	CAG		0.642	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568		13	30	1	0	1.37285e-15	1	1.63857e-15	13	30				
LRP1	4035	broad.mit.edu	37	12	57554807	57554807	+	Missense_Mutation	SNP	T	T	C			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr12:57554807T>C	ENST00000243077.3	+	13	2577	c.2111T>C	c.(2110-2112)cTa>cCa	p.L704P		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	704					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCAATGGGCTAAGCCTGGAC	0.617																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(2110-2112)cTa>cCa		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						159.0	145.0	150.0					12																	57554807		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57554807T>C	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2111T>C	12.37:g.57554807T>C	ENSP00000243077:p.Leu704Pro						p.L704P	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	13	2577	+			704					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.2111T>C	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	T	17.49	3.402943	0.62288	.	.	ENSG00000123384	ENST00000243077	D	0.97598	-4.45	5.19	5.19	0.71726	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.56097	D	0.000040	D	0.98871	0.9618	H	0.96208	3.785	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.99457	1.0942	10	0.87932	D	0	.	13.3416	0.60549	0.0:0.0:0.0:1.0	.	704	Q07954	LRP1_HUMAN	P	704	ENSP00000243077:L704P	ENSP00000243077:L704P	L	+	2	0	LRP1	55841074	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.868000	0.87116	2.317000	0.78254	0.460000	0.39030	CTA		0.617	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		12	149	0	0	0	1	0	12	149				
BVES	11149	broad.mit.edu	37	6	105573335	105573335	+	Missense_Mutation	SNP	T	T	C	rs369142492		TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr6:105573335T>C	ENST00000314641.5	-	4	686	c.470A>G	c.(469-471)aAg>aGg	p.K157R	BVES_ENST00000336775.5_Missense_Mutation_p.K157R|BVES_ENST00000446408.2_Missense_Mutation_p.K157R	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	157					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)	p.K157R(1)		NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				AGTTTGGCCCTTTTTCAAGGT	0.438																																						ENST00000314641.5																			1	Substitution - Missense(1)	p.K157R(1)	prostate(1)	NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(469-471)aAg>aGg		blood vessel epicardial substance		T	ARG/LYS,ARG/LYS,ARG/LYS	0,4406		0,0,2203	160.0	160.0	160.0		470,470,470	3.3	1.0	6		160	1,8599		0,1,4299	no	missense,missense,missense	BVES	NM_147147.3,NM_007073.4,NM_001199563.1	26,26,26	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign,benign	157/361,157/361,157/361	105573335	1,13005	2203	4300	6503	SO:0001583	missense	11149				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	g.chr6:105573335T>C	AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"""popeye domain containing 1"""	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.470A>G	6.37:g.105573335T>C	ENSP00000313172:p.Lys157Arg					BVES_ENST00000336775.5_Missense_Mutation_p.K157R|BVES_ENST00000446408.2_Missense_Mutation_p.K157R	p.K157R	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN			4	686	-		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	157					A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	37	c.470A>G	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	T	11.10	1.540510	0.27563	0.0	1.16E-4	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.31510	1.49;1.49;1.49	5.76	3.34	0.38264	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.130282	0.64402	N	0.000002	T	0.07638	0.0192	L	0.31845	0.965	0.39124	D	0.961725	B	0.14438	0.01	B	0.13407	0.009	T	0.12528	-1.0544	10	0.13470	T	0.59	-15.0112	6.8871	0.24208	0.0:0.148:0.1607:0.6914	.	157	Q8NE79	POPD1_HUMAN	R	157	ENSP00000313172:K157R;ENSP00000337259:K157R;ENSP00000397310:K157R	ENSP00000313172:K157R	K	-	2	0	BVES	105680028	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.676000	0.46883	1.016000	0.39470	0.533000	0.62120	AAG		0.438	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147		5	211	0	0	0	1	0	5	211				
ATP11B	23200	broad.mit.edu	37	3	182614548	182614548	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr3:182614548G>A	ENST00000323116.5	+	26	3303	c.3043G>A	c.(3043-3045)Gta>Ata	p.V1015I		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1015					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TACAGTCACAGTAAAGGTATG	0.333																																						ENST00000323116.5																			0				breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41						c.(3043-3045)Gta>Ata		ATPase, class VI, type 11B							230.0	225.0	227.0					3																	182614548		2203	4299	6502	SO:0001583	missense	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182614548G>A	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.3043G>A	3.37:g.182614548G>A	ENSP00000321195:p.Val1015Ile						p.V1015I	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		26	3303	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		1015					Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	c.3043G>A	CCDS33896.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372406	0.42003	.	.	ENSG00000058063	ENST00000323116;ENST00000482070	T;T	0.39997	1.05;1.05	5.66	5.66	0.87406	.	0.436377	0.24864	N	0.034986	T	0.19967	0.0480	N	0.03983	-0.305	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.07501	-1.0769	10	0.56958	D	0.05	.	7.4075	0.27000	0.1999:0.0:0.8001:0.0	.	589;1015	B3KSJ2;Q9Y2G3	.;AT11B_HUMAN	I	1015;230	ENSP00000321195:V1015I;ENSP00000417124:V230I	ENSP00000321195:V1015I	V	+	1	0	ATP11B	184097242	0.998000	0.40836	1.000000	0.80357	0.966000	0.64601	1.144000	0.31565	2.663000	0.90544	0.557000	0.71058	GTA		0.333	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		4	109	0	0	0	1	0	4	109				
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr17:43587657C>T	ENST00000579913.1	-	0	1396				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GGTGACAACACATCTGTTTTA	0.323																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43587657C>T	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587657C>T						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.323	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		5	58	0	0	0	1	0	5	58				
ADAMTS3	9508	broad.mit.edu	37	4	73280586	73280586	+	Nonsense_Mutation	SNP	T	T	A			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr4:73280586T>A	ENST00000286657.4	-	4	643	c.607A>T	c.(607-609)Aga>Tga	p.R203*		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	203					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACAGCTGATCTCTTGTAGACA	0.363																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(607-609)Aga>Tga		ADAM metallopeptidase with thrombospondin type 1 motif, 3							168.0	162.0	164.0					4																	73280586		2203	4300	6503	SO:0001587	stop_gained	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73280586T>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.607A>T	4.37:g.73280586T>A	ENSP00000286657:p.Arg203*						p.R203*	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		4	643	-			203					A1L3U9|Q9BXZ8	Nonsense_Mutation	SNP	ENST00000286657.4	37	c.607A>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	T	37	6.200075	0.97371	.	.	ENSG00000156140	ENST00000286657	.	.	.	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9151	0.47131	0.0:0.0:0.169:0.831	.	.	.	.	X	203	.	ENSP00000286657:R203X	R	-	1	2	ADAMTS3	73499450	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.773000	0.47686	1.937000	0.56155	0.533000	0.62120	AGA		0.363	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			26	151	0	0	0	1	0	26	151				
CNTNAP4	85445	broad.mit.edu	37	16	76569593	76569593	+	Silent	SNP	C	C	T			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr16:76569593C>T	ENST00000476707.1	+	17	3055	c.2916C>T	c.(2914-2916)tgC>tgT	p.C972C	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Silent_p.C968C|CNTNAP4_ENST00000478060.1_Silent_p.C896C|CNTNAP4_ENST00000377504.4_Silent_p.C920C			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	969	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GGAAGTTATGCCGCAATGGAG	0.498																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(2902-2904)tgC>tgT		contactin associated protein-like 4							67.0	73.0	71.0					16																	76569593		2108	4252	6360	SO:0001819	synonymous_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76569593C>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2916C>T	16.37:g.76569593C>T						CNTNAP4_ENST00000478060.1_Silent_p.C896C|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Silent_p.C972C|CNTNAP4_ENST00000377504.4_Silent_p.C920C	p.C968C	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			19	3289	+			969			EGF-like 2.		E9PFZ6|Q86YZ7	Silent	SNP	ENST00000476707.1	37	c.2904C>T																																																																																					0.498	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		3	39	0	0	0	1	0	3	39				
TEKT1	83659	broad.mit.edu	37	17	6704168	6704168	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr17:6704168C>T	ENST00000338694.2	-	7	1076	c.947G>A	c.(946-948)cGc>cAc	p.R316H	TEKT1_ENST00000535086.1_Missense_Mutation_p.R170H	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	316						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				GGTCTCCAAGCGCGTATGAGC	0.507											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338694.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20						c.(946-948)cGc>cAc		tektin 1							210.0	197.0	202.0					17																	6704168		2203	4300	6503	SO:0001583	missense	83659				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:6704168C>T		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.947G>A	17.37:g.6704168C>T	ENSP00000341346:p.Arg316His		OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	636	TEKT1_ENST00000535086.1_Missense_Mutation_p.R170H	p.R316H	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN			7	1076	-		Myeloproliferative disorder(207;0.0255)	316					D3DTM7	Missense_Mutation	SNP	ENST00000338694.2	37	c.947G>A	CCDS11083.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590219	0.86851	.	.	ENSG00000167858	ENST00000338694;ENST00000535086	T;T	0.26660	1.72;1.72	5.85	5.85	0.93711	.	0.051026	0.85682	D	0.000000	T	0.64594	0.2612	H	0.94385	3.53	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.73461	-0.3975	10	0.87932	D	0	.	18.0364	0.89305	0.0:1.0:0.0:0.0	.	316	Q969V4	TEKT1_HUMAN	H	316;170	ENSP00000341346:R316H;ENSP00000444142:R170H	ENSP00000341346:R316H	R	-	2	0	TEKT1	6644892	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	5.523000	0.67099	2.941000	0.99782	0.655000	0.94253	CGC		0.507	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285		8	161	0	0	0	1	0	8	161				
FLG	2312	broad.mit.edu	37	1	152282306	152282306	+	Missense_Mutation	SNP	G	G	T			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr1:152282306G>T	ENST00000368799.1	-	3	5091	c.5056C>A	c.(5056-5058)Cag>Aag	p.Q1686K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1686	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGACTGCTGGTGGCGGGAT	0.572									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(5056-5058)Cag>Aag		filaggrin							303.0	304.0	304.0					1																	152282306		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282306G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5056C>A	1.37:g.152282306G>T	ENSP00000357789:p.Gln1686Lys					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.Q1686K	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5091	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1686			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5056C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	5.304	0.241404	0.10077	.	.	ENSG00000143631	ENST00000368799	T	0.00724	5.78	3.46	-6.91	0.01649	.	.	.	.	.	T	0.00271	0.0008	M	0.63428	1.95	0.09310	N	1	P	0.37466	0.596	B	0.41619	0.361	T	0.43081	-0.9413	9	0.06757	T	0.87	.	3.997	0.09563	0.1228:0.1941:0.4999:0.1833	.	1686	P20930	FILA_HUMAN	K	1686	ENSP00000357789:Q1686K	ENSP00000357789:Q1686K	Q	-	1	0	FLG	150548930	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.238000	0.02919	-2.055000	0.00899	-0.840000	0.03056	CAG		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	475	1	0	0.00198382	1	0.00209718	7	475				
GALNT13	114805	broad.mit.edu	37	2	155102328	155102328	+	Silent	SNP	A	A	G			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr2:155102328A>G	ENST00000392825.3	+	7	1257	c.690A>G	c.(688-690)aaA>aaG	p.K230K	GALNT13_ENST00000409237.1_Silent_p.K230K	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	230					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TCTGCAGGAAAACGGTTGTCT	0.318																																						ENST00000392825.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						c.(688-690)aaA>aaG		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)							115.0	114.0	114.0					2																	155102328		2203	4300	6503	SO:0001819	synonymous_variant	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155102328A>G	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.690A>G	2.37:g.155102328A>G						GALNT13_ENST00000409237.1_Silent_p.K230K	p.K230K	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN			7	1257	+			230					Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Silent	SNP	ENST00000392825.3	37	c.690A>G	CCDS2199.1																																																																																				0.318	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		4	99	0	0	0	1	0	4	99				
MUC4	4585	broad.mit.edu	37	3	195505851	195505851	+	Silent	SNP	T	T	C	rs200522168		TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr3:195505851T>C	ENST00000463781.3	-	2	13059	c.12600A>G	c.(12598-12600)tcA>tcG	p.S4200S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.S4200S	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)		CTGTGGATGCTGAGGAAGTGT	0.592																																						ENST00000463781.3																			0				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						c.(12598-12600)tcA>tcG		mucin 4, cell surface associated							18.0	14.0	15.0					3																	195505851		689	1574	2263	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505851T>C	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.12600A>G	3.37:g.195505851T>C						MUC4_ENST00000475231.1_Silent_p.S4200S|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	p.S4200S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	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)	2	13059	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	963					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.12600A>G	CCDS54700.1																																																																																				0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	2	0	0	0	1	0	3	2				
KL	9365	broad.mit.edu	37	13	33635727	33635727	+	Silent	SNP	G	G	A	rs36012519	byFrequency	TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr13:33635727G>A	ENST00000380099.3	+	4	2519	c.2511G>A	c.(2509-2511)acG>acA	p.T837T	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	837	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|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)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCGACATCACGTGGCTCAACT	0.473																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(2509-2511)acG>acA		klotho		G		0,4406		0,0,2203	92.0	91.0	91.0		2511	-12.1	0.0	13	dbSNP_126	91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KL	NM_004795.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		837/1013	33635727	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33635727G>A	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2511G>A	13.37:g.33635727G>A						KL_ENST00000487852.1_3'UTR	p.T837T	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	4	2519	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	837			Glycosyl hydrolase-1 2.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Silent	SNP	ENST00000380099.3	37	c.2511G>A	CCDS9347.1																																																																																				0.473	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			22	70	0	0	0	1	0	22	70				
FLG	2312	broad.mit.edu	37	1	152282307	152282307	+	Missense_Mutation	SNP	G	G	T			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr1:152282307G>T	ENST00000368799.1	-	3	5090	c.5055C>A	c.(5053-5055)caC>caA	p.H1685Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1685	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGACTGCTGGTGGCGGGATC	0.567									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(5053-5055)caC>caA		filaggrin							303.0	304.0	304.0					1																	152282307		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282307G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5055C>A	1.37:g.152282307G>T	ENSP00000357789:p.His1685Gln					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.H1685Q	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5090	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1685			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5055C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	9.444	1.088801	0.20390	.	.	ENSG00000143631	ENST00000368799	T	0.03951	3.75	3.46	-3.93	0.04143	.	.	.	.	.	T	0.03220	0.0094	L	0.60455	1.87	0.09310	N	1	D	0.54772	0.968	D	0.72625	0.978	T	0.28299	-1.0048	9	0.12430	T	0.62	.	1.1919	0.01867	0.2799:0.1562:0.4067:0.1573	.	1685	P20930	FILA_HUMAN	Q	1685	ENSP00000357789:H1685Q	ENSP00000357789:H1685Q	H	-	3	2	FLG	150548931	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.058000	0.11750	-0.651000	0.05415	0.306000	0.20318	CAC		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	473	1	0	0.000157383	1	0.00017127	7	473				
DCC	1630	broad.mit.edu	37	18	50734159	50734159	+	Silent	SNP	T	T	C			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr18:50734159T>C	ENST00000442544.2	+	11	2449	c.1833T>C	c.(1831-1833)gaT>gaC	p.D611D	DCC_ENST00000412726.1_Silent_p.D459D|DCC_ENST00000581580.1_Silent_p.D266D	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	611	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCTCTACTGATGATATAACAG	0.348																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(1831-1833)gaT>gaC		deleted in colorectal carcinoma							133.0	138.0	136.0					18																	50734159		2203	4300	6503	SO:0001819	synonymous_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50734159T>C	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1833T>C	18.37:g.50734159T>C						DCC_ENST00000581580.1_Silent_p.D266D|DCC_ENST00000412726.1_Silent_p.D459D	p.D611D	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	11	2449	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	611			Fibronectin type-III 2.			Silent	SNP	ENST00000442544.2	37	c.1833T>C	CCDS11952.1																																																																																				0.348	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		7	299	0	0	0	1	0	7	299				
NBPF14	25832	broad.mit.edu	37	1	148009411	148009411	+	Silent	SNP	G	G	A			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr1:148009411G>A	ENST00000369219.1	-	16	1912	c.1896C>T	c.(1894-1896)tgC>tgT	p.C632C				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	632	NBPF 7. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TGTAGGGCTGGCATGAGTCAG	0.483																																						ENST00000369219.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(1894-1896)tgC>tgT		neuroblastoma breakpoint family, member 14							102.0	206.0	176.0					1																	148009411		1657	4052	5709	SO:0001819	synonymous_variant	25832					cytoplasm		g.chr1:148009411G>A	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1896C>T	1.37:g.148009411G>A							p.C632C			Q5TI25	NBPFE_HUMAN			16	1912	-	all_hematologic(923;0.032)		632			NBPF 7.		Q5TI23|Q8IX76|Q9UJI9	Silent	SNP	ENST00000369219.1	37	c.1896C>T		.	.	.	.	.	.	.	.	.	.	g	2.161	-0.392157	0.04932	.	.	ENSG00000122497	ENST00000310701	.	.	.	.	.	.	.	.	.	.	.	T	0.14270	0.0345	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28808	-1.0032	1	.	.	.	.	.	.	.	.	.	.	.	V	638	.	.	A	-	2	0	NBPF14	146476035	0.973000	0.33851	.	.	.	.	0.748000	0.26305	.	.	.	.	GCC		0.483	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		6	836	0	0	0	1	0	6	836				
ZNF70	7621	broad.mit.edu	37	22	24087097	24087097	+	Silent	SNP	T	T	C			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr22:24087097T>C	ENST00000341976.3	-	2	691	c.231A>G	c.(229-231)caA>caG	p.Q77Q		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	77					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						GGGGGATACTTTGATGCTGAA	0.493																																						ENST00000341976.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						c.(229-231)caA>caG		zinc finger protein 70							135.0	132.0	133.0					22																	24087097		2203	4300	6503	SO:0001819	synonymous_variant	7621					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr22:24087097T>C	X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"""Zinc fingers, C2H2-type"""	13140	protein-coding gene	gene with protein product		194544	"""zinc finger protein 70 (Cos17)"""			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.231A>G	22.37:g.24087097T>C							p.Q77Q	NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN			2	691	-			77						Silent	SNP	ENST00000341976.3	37	c.231A>G	CCDS13812.1																																																																																				0.493	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916		22	69	0	0	0	1	0	22	69				
ANAPC11	51529	broad.mit.edu	37	17	79857351	79857351	+	Intron	SNP	C	C	A			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr17:79857351C>A	ENST00000575195.2	+	2	289				NPB_ENST00000573081.1_5'Flank|ANAPC11_ENST00000571874.2_Intron|ANAPC11_ENST00000577747.1_Intron|ANAPC11_ENST00000577425.1_Intron|ANAPC11_ENST00000578550.1_Intron|NPB_ENST00000333383.7_5'Flank|ANAPC11_ENST00000578544.1_Intron|ANAPC11_ENST00000344877.5_Intron|ANAPC11_ENST00000571024.2_Intron|ANAPC11_ENST00000583839.1_Intron|ANAPC11_ENST00000579978.1_Intron|ANAPC11_ENST00000574924.2_Intron|ANAPC11_ENST00000392376.3_Intron|ANAPC11_ENST00000572851.2_Intron|ANAPC11_ENST00000571570.1_Intron|ANAPC11_ENST00000357385.3_Missense_Mutation_p.L115I|ANAPC11_ENST00000579133.1_Intron|ANAPC11_ENST00000572639.1_Intron			Q9NYG5	APC11_HUMAN	anaphase promoting complex subunit 11						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)	2	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TCCTTGGTGCCTTGACCATTC	0.542																																						ENST00000357385.3																			0				kidney(1)|lung(1)	2						c.(343-345)Ctt>Att		anaphase promoting complex subunit 11							123.0	104.0	111.0					17																	79857351		2203	4300	6503	SO:0001627	intron_variant	51529				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	zinc ion binding	g.chr17:79857351C>A	AF247565	CCDS11789.1, CCDS32769.1, CCDS74180.1	17q25.3	2011-06-15	2008-10-30			ENSG00000141552		"""Anaphase promoting complex subunits"""	14452	protein-coding gene	gene with protein product		614534	"""anaphase promoting complex subunit 11 (yeast APC11 homolog)"""			10922056	Standard	NM_001002245		Approved	HSPC214, APC11, Apc11p, MGC882	uc002kby.1	Q9NYG5		ENST00000575195.2:c.110-445C>A	17.37:g.79857351C>A						ANAPC11_ENST00000578544.1_Intron|ANAPC11_ENST00000577747.1_Intron|ANAPC11_ENST00000579133.1_Intron|ANAPC11_ENST00000571874.2_Intron|ANAPC11_ENST00000579978.1_Intron|ANAPC11_ENST00000571024.2_Intron|ANAPC11_ENST00000571570.1_Intron|ANAPC11_ENST00000575195.2_Intron|ANAPC11_ENST00000577425.1_Intron|ANAPC11_ENST00000574924.2_Intron|ANAPC11_ENST00000578550.1_Intron|ANAPC11_ENST00000392376.3_Intron|ANAPC11_ENST00000572639.1_Intron|ANAPC11_ENST00000583839.1_Intron|ANAPC11_ENST00000572851.2_Intron|ANAPC11_ENST00000344877.5_Intron	p.L115I	NM_001002244.1	NP_001002244.1	Q9NYG5	APC11_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		3	479	+	all_neural(118;0.0878)|Ovarian(332;0.12)		0					A8MTT2|B7ZW64|Q502X9|Q9BW64|Q9P0R2	Missense_Mutation	SNP	ENST00000575195.2	37	c.343C>A	CCDS11789.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.366922	0.41902	.	.	ENSG00000141552	ENST00000357385	.	.	.	1.93	0.564	0.17302	.	.	.	.	.	T	0.23766	0.0575	.	.	.	0.09310	N	1	P	0.36354	0.549	B	0.34779	0.189	T	0.19095	-1.0316	7	0.66056	D	0.02	-26.5647	3.3237	0.07059	0.0:0.5897:0.0:0.4103	.	115	Q9NYG5-2	.	I	115	.	ENSP00000349957:L115I	L	+	1	0	ANAPC11	77450643	0.002000	0.14202	0.000000	0.03702	0.347000	0.29111	-0.224000	0.09164	0.174000	0.19809	0.462000	0.41574	CTT		0.542	ANAPC11-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440106.2	NM_016476		3	47	1	0	0.115264	1	0.118466	3	47				
SLC9A3	6550	broad.mit.edu	37	5	482200	482200	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr5:482200C>T	ENST00000264938.3	-	8	1438	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.E468K|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	477					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGCAGCTTCTCGTTGAGCCGA	0.682																																						ENST00000264938.3																			0				NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1429-1431)Gag>Aag		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3							36.0	34.0	34.0					5																	482200		2202	4299	6501	SO:0001583	missense	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:482200C>T		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1429G>A	5.37:g.482200C>T	ENSP00000264938:p.Glu477Lys					SLC9A3_ENST00000514375.1_Missense_Mutation_p.E468K	p.E477K	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		8	1438	-			477					B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	c.1429G>A	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701188	0.68501	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.59772	0.67;0.24	4.0	4.0	0.46444	.	0.118078	0.56097	D	0.000022	T	0.78097	0.4230	M	0.86502	2.82	0.53688	D	0.999977	D;D	0.89917	1.0;1.0	D;D	0.68765	0.96;0.96	D	0.83859	0.0267	10	0.87932	D	0	.	16.0686	0.80907	0.0:1.0:0.0:0.0	.	468;477	E9PF67;P48764	.;SL9A3_HUMAN	K	477;468	ENSP00000264938:E477K;ENSP00000422983:E468K	ENSP00000264938:E477K	E	-	1	0	SLC9A3	535200	1.000000	0.71417	0.983000	0.44433	0.244000	0.25665	5.617000	0.67716	1.942000	0.56320	0.555000	0.69702	GAG		0.682	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		6	24	0	0	0	1	0	6	24				
VHL	7428	broad.mit.edu	37	3	10188230	10188231	+	In_Frame_Ins	INS	-	-	ACG	rs375401722		TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr3:10188230_10188231insACG	ENST00000256474.2	+	2	1213_1214	c.373_374insACG	c.(373-375)cac>cACGac	p.126_127insD	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	126	Involved in binding to CCT complex.		D -> Y (in ECYT2). {ECO:0000269|PubMed:12393546}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.H125fs*6(1)|p.H125fs*34(1)|p.R120fs*34(1)|p.H125fs*27(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TGCAGGGACACACGATGGGCTT	0.5		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													ENST00000256474.2		1	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	"""D, Mis, N, F, S"""	von Hippel-Lindau syndrome gene			"""E, M, O"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""		4	Deletion - Frameshift(4)	p.H125fs*6(1)|p.H125fs*34(1)|p.R120fs*34(1)|p.H125fs*27(1)	kidney(4)	adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769	GRCh37	CI071465	VHL	I		c.(373-375)cga>ACGcga		von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase																																				SO:0001652	inframe_insertion	7428	von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	g.chr3:10188230_10188231insACG	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.374_376dupACG	3.37:g.10188231_10188233dupACG	ENSP00000256474:p.Asp126_Asp126dup					VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	p.124_125insT	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	2	1213_1214	+			124			Involved in binding to CCT complex.		B2RE45|Q13599|Q6PDA9	In_Frame_Ins	INS	ENST00000256474.2	37	c.373_374insACG	CCDS2597.1																																																																																				0.500	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		40	101						40	101	---	---	---	---
GDPD5	81544	broad.mit.edu	37	11	75160628	75160628	+	Frame_Shift_Del	DEL	C	C	-			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr11:75160628delC	ENST00000336898.3	-	8	1339	c.502delG	c.(502-504)gctfs	p.A168fs	GDPD5_ENST00000376282.3_Frame_Shift_Del_p.A49fs|GDPD5_ENST00000533805.1_5'UTR|GDPD5_ENST00000526177.1_Frame_Shift_Del_p.A30fs|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000529721.1_Frame_Shift_Del_p.A168fs|GDPD5_ENST00000533784.1_Frame_Shift_Del_p.A49fs	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	168					cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GCTGCCACAGCCCCCACATGC	0.627																																						ENST00000526177.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						c.(88-90)ctfs		glycerophosphodiester phosphodiesterase domain containing 5							37.0	33.0	34.0					11																	75160628		2198	4289	6487	SO:0001589	frameshift_variant	81544				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	g.chr11:75160628delC	AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.502delG	11.37:g.75160628delC	ENSP00000337972:p.Ala168fs					GDPD5_ENST00000533784.1_Frame_Shift_Del_p.A49fs|GDPD5_ENST00000533805.1_5'UTR|GDPD5_ENST00000376282.3_Frame_Shift_Del_p.A49fs|GDPD5_ENST00000529721.1_Frame_Shift_Del_p.A168fs|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000336898.3_Frame_Shift_Del_p.A168fs	p.A30fs			Q8WTR4	GDPD5_HUMAN			4	1966	-			168					Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Frame_Shift_Del	DEL	ENST00000336898.3	37	c.88delG	CCDS8238.1																																																																																				0.627	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792		2	4						2	4	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs397827801|rs11353924|rs532713769|rs398078750		TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438																																						ENST00000429810.2																			0																																																			0							g.chr16:74372915delT																													16.37:g.74372915delT														0	1404	-									RNA	DEL	ENST00000429810.2	37																																																																																						0.438	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			4	5						4	5	---	---	---	---
ZNF594	84622	broad.mit.edu	37	17	5096766	5096766	+	5'Flank	DEL	A	A	-			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr17:5096766delA	ENST00000575779.1	-	0	0				RP11-333E1.1_ENST00000575601.1_RNA|RP11-333E1.1_ENST00000571689.1_RNA	NM_032530.1	NP_115919.1	Q96JF6	ZN594_HUMAN	zinc finger protein 594						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						tcaaaaaaataaaaaaaaaaa	0.507																																						ENST00000571689.1																			0																																																	SO:0001631	upstream_gene_variant	100130950							g.chr17:5096766delA	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059		17.37:g.5096766delA	Exception_encountered					RP11-333E1.1_ENST00000575601.1_RNA		NR_034082.1						0	60	+								Q6RFS0	RNA	DEL	ENST00000575779.1	37		CCDS42241.1																																																																																				0.507	ZNF594-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255082.2	XM_290737		2	4						2	4	---	---	---	---
