#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
HTR1D	3352	broad.mit.edu	37	1	23520101	23520101	+	Silent	SNP	C	C	T			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr1:23520101C>T	ENST00000374619.1	-	1	1121	c.612G>A	c.(610-612)ggG>ggA	p.G204G	HTR1D_ENST00000314113.3_Silent_p.G204G	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	204					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TGTAGAAGGCCCCACAGGTGG	0.592																																						ENST00000374619.1																			0				NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(610-612)ggG>ggA		5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)						69.0	75.0	73.0					1																	23520101		2203	4300	6503	SO:0001819	synonymous_variant	3352				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity	g.chr1:23520101C>T	M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5289	protein-coding gene	gene with protein product		182133	"""5-hydroxytryptamine (serotonin) receptor 1D"""	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.612G>A	1.37:g.23520101C>T			Somatic				HTR1D_ENST00000314113.3_Silent_p.G204G	p.G204G	NM_000864.4	NP_000855.1	WXS	Illumina GAIIx	Phase_I	P28221	5HT1D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	1	1121	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)	204						Silent	SNP	ENST00000374619.1	37	c.612G>A	CCDS231.1																																																																																				0.592	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008924.1	NM_000864		3	59	3	59	---	---	---	---
B3GALT2	8707	broad.mit.edu	37	1	193150383	193150383	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr1:193150383G>C	ENST00000367434.4	-	2	1065	c.310C>G	c.(310-312)Ctg>Gtg	p.L104V	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	104					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						TGTGGTGACAGGTCTGTGTTA	0.418																																						ENST00000367434.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						c.(310-312)Ctg>Gtg		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2							168.0	165.0	166.0					1																	193150383		2203	4300	6503	SO:0001583	missense	8707				protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr1:193150383G>C	Y15060	CCDS1383.1	1q31	2013-02-19			ENSG00000162630	ENSG00000162630		"""Beta 3-glycosyltransferases"""	917	protein-coding gene	gene with protein product		603018				9582303, 9417100	Standard	NM_003783		Approved	beta3Gal-T2	uc001gtc.4	O43825	OTTHUMG00000035687	ENST00000367434.4:c.310C>G	1.37:g.193150383G>C	ENSP00000356404:p.Leu104Val		Somatic				CDC73_ENST00000367435.3_Intron	p.L104V	NM_003783.3	NP_003774.1	WXS	Illumina GAIIx	Phase_I	O43825	B3GT2_HUMAN			2	1065	-			104					B2RAB1|Q9BZQ9	Missense_Mutation	SNP	ENST00000367434.4	37	c.310C>G	CCDS1383.1	.	.	.	.	.	.	.	.	.	.	G	1.693	-0.503430	0.04261	.	.	ENSG00000162630	ENST00000367434	T	0.37584	1.19	5.26	2.34	0.29019	.	1.176280	0.06118	N	0.668405	T	0.28928	0.0718	L	0.34521	1.04	0.33555	D	0.596636	B	0.09022	0.002	B	0.04013	0.001	T	0.27262	-1.0079	10	0.27082	T	0.32	.	9.1756	0.37109	0.3576:0.0:0.6424:0.0	.	104	O43825	B3GT2_HUMAN	V	104	ENSP00000356404:L104V	ENSP00000356404:L104V	L	-	1	2	B3GALT2	191417006	0.277000	0.24220	0.943000	0.38184	0.994000	0.84299	0.831000	0.27476	0.721000	0.32231	0.563000	0.77884	CTG		0.418	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086759.1	NM_003783		12	94	12	94	---	---	---	---
IPO9	55705	broad.mit.edu	37	1	201821311	201821311	+	Silent	SNP	C	C	A			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr1:201821311C>A	ENST00000361565.4	+	5	663	c.594C>A	c.(592-594)acC>acA	p.T198T	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	198					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						AGATCTTCACCATGGCTGAGG	0.438																																						ENST00000361565.4																			0				cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(592-594)acC>acA		importin 9							89.0	86.0	87.0					1																	201821311		2203	4300	6503	SO:0001819	synonymous_variant	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201821311C>A	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.594C>A	1.37:g.201821311C>A			Somatic				IPO9_ENST00000464348.1_3'UTR	p.T198T	NM_018085.4	NP_060555.2	WXS	Illumina GAIIx	Phase_I	Q96P70	IPO9_HUMAN			5	663	+			198					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Silent	SNP	ENST00000361565.4	37	c.594C>A	CCDS1415.1																																																																																				0.438	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		3	28	3	28	---	---	---	---
HSPD1	3329	broad.mit.edu	37	2	198353198	198353198	+	Silent	SNP	A	A	G			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr2:198353198A>G	ENST00000388968.3	-	10	1500	c.1233T>C	c.(1231-1233)gaT>gaC	p.D411D	HSPD1_ENST00000345042.2_Silent_p.D411D	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	411					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			TCACTTCAACATCACTTGTCC	0.413																																						ENST00000388968.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17						c.(1231-1233)gaT>gaC		heat shock 60kDa protein 1 (chaperonin)							102.0	100.0	101.0					2																	198353198		2203	4299	6502	SO:0001819	synonymous_variant	3329				'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding	g.chr2:198353198A>G	M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"""Heat Shock Proteins / Chaperonins"""	5261	protein-coding gene	gene with protein product		118190	"""heat shock 60kD protein 1 (chaperonin)"", ""spastic paraplegia 13 (autosomal dominant)"""	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.1233T>C	2.37:g.198353198A>G			Somatic				HSPD1_ENST00000345042.2_Silent_p.D411D	p.D411D	NM_002156.4	NP_002147.2	WXS	Illumina GAIIx	Phase_I	P10809	CH60_HUMAN	Epithelial(96;0.225)		10	1500	-			411					B2R5M6|B7Z712|Q38L19|Q9UCR6	Silent	SNP	ENST00000388968.3	37	c.1233T>C	CCDS33357.1																																																																																				0.413	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		8	112	8	112	---	---	---	---
SCN10A	6336	broad.mit.edu	37	3	38835295	38835295	+	Silent	SNP	C	C	T			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr3:38835295C>T	ENST00000449082.2	-	1	206	c.207G>A	c.(205-207)gaG>gaA	p.E69E		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	69					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CTGCTGGGAGCTCACCATAGA	0.552																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(205-207)gaG>gaA		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						138.0	144.0	142.0					3																	38835295		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38835295C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.207G>A	3.37:g.38835295C>T			Somatic					p.E69E	NM_006514.2	NP_006505.2	WXS	Illumina GAIIx	Phase_I	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	1	206	-			69					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.207G>A	CCDS33736.1																																																																																				0.552	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		19	177	19	177	---	---	---	---
TBCCD1	55171	broad.mit.edu	37	3	186276229	186276229	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr3:186276229C>T	ENST00000424280.1	-	3	948	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	TBCCD1_ENST00000446782.1_Missense_Mutation_p.E61K|TBCCD1_ENST00000338733.5_Missense_Mutation_p.E157K	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	157					cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		TTAGATTTTTCAGTCAGGTCA	0.383																																						ENST00000424280.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17						c.(469-471)Gaa>Aaa		TBCC domain containing 1							138.0	140.0	139.0					3																	186276229		2203	4300	6503	SO:0001583	missense	55171				cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding	g.chr3:186276229C>T	BC025748	CCDS3276.1, CCDS75061.1	3q27.3	2006-03-09			ENSG00000113838	ENSG00000113838			25546	protein-coding gene	gene with protein product						12477932	Standard	NM_001134415		Approved	FLJ10560	uc003fqg.3	Q9NVR7	OTTHUMG00000156613	ENST00000424280.1:c.469G>A	3.37:g.186276229C>T	ENSP00000411253:p.Glu157Lys		Somatic				TBCCD1_ENST00000338733.5_Missense_Mutation_p.E157K|TBCCD1_ENST00000446782.1_Missense_Mutation_p.E61K	p.E157K	NM_001134415.1	NP_001127887.1	WXS	Illumina GAIIx	Phase_I	Q9NVR7	TBCC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)	3	948	-	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		157					B3KW69|D3DNU6|G5E9J4	Missense_Mutation	SNP	ENST00000424280.1	37	c.469G>A	CCDS3276.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661971	0.47572	.	.	ENSG00000113838	ENST00000424280;ENST00000338733;ENST00000446782;ENST00000413695;ENST00000430560	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;0.84	5.24	5.24	0.73138	.	0.118822	0.56097	D	0.000030	T	0.61185	0.2327	L	0.40543	1.245	0.38883	D	0.956953	B;B	0.25105	0.118;0.072	B;B	0.28709	0.093;0.023	T	0.57573	-0.7788	10	0.06891	T	0.86	-8.5914	16.6878	0.85314	0.0:1.0:0.0:0.0	.	61;157	G5E9J4;Q9NVR7	.;TBCC1_HUMAN	K	157;157;61;157;141	ENSP00000411253:E157K;ENSP00000341652:E157K;ENSP00000397091:E61K;ENSP00000391109:E157K;ENSP00000407506:E141K	ENSP00000341652:E157K	E	-	1	0	TBCCD1	187758923	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.991000	0.76232	2.607000	0.88179	0.655000	0.94253	GAA		0.383	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344774.1	NM_018138		13	140	13	140	---	---	---	---
AASDH	132949	broad.mit.edu	37	4	57244445	57244445	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr4:57244445T>G	ENST00000205214.6	-	4	717	c.537A>C	c.(535-537)aaA>aaC	p.K179N	AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000502617.1_Missense_Mutation_p.K179N|AASDH_ENST00000513376.1_Missense_Mutation_p.K79N|AASDH_ENST00000451613.1_Missense_Mutation_p.K179N|AASDH_ENST00000602986.1_Missense_Mutation_p.K26N	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	179					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GTTCTTCTGCTTTTTCTTCAT	0.368																																						ENST00000205214.6																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(535-537)aaA>aaC		aminoadipate-semialdehyde dehydrogenase							193.0	162.0	172.0					4																	57244445		2203	4300	6503	SO:0001583	missense	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57244445T>G	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.537A>C	4.37:g.57244445T>G	ENSP00000205214:p.Lys179Asn		Somatic				AASDH_ENST00000451613.1_Missense_Mutation_p.K179N|AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000602986.1_Missense_Mutation_p.K26N|AASDH_ENST00000502617.1_Missense_Mutation_p.K179N|AASDH_ENST00000513376.1_Missense_Mutation_p.K79N	p.K179N	NM_181806.2	NP_861522.2	WXS	Illumina GAIIx	Phase_I	Q4L235	ACSF4_HUMAN			4	717	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	179					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	c.537A>C	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	T	2.357	-0.347414	0.05208	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T	0.56776	0.78;0.97;0.44;0.78	4.83	-2.72	0.05968	AMP-dependent synthetase/ligase (1);	0.731969	0.13661	N	0.371593	T	0.32615	0.0835	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.09022	0.002;0.001;0.001;0.001	B;B;B;B	0.08055	0.003;0.002;0.001;0.003	T	0.21690	-1.0238	10	0.48119	T	0.1	-3.014	0.2503	0.00204	0.2444:0.2403:0.2663:0.249	.	26;179;179;179	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	N	179;79;179;26;179	ENSP00000205214:K179N;ENSP00000423760:K79N;ENSP00000409656:K179N;ENSP00000421171:K179N	ENSP00000205214:K179N	K	-	3	2	AASDH	56939202	0.000000	0.05858	0.007000	0.13788	0.205000	0.24178	-0.720000	0.04969	-0.322000	0.08615	0.533000	0.62120	AAA		0.368	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		4	58	4	58	---	---	---	---
HSD17B11	51170	broad.mit.edu	37	4	88278430	88278430	+	Splice_Site	SNP	C	C	A	rs199563880		TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr4:88278430C>A	ENST00000358290.4	-	5	1011		c.e5+1		HSD17B11_ENST00000507286.1_Splice_Site|HSD17B11_ENST00000507518.1_Splice_Site	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11						androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		TCTCAACTTACCTTGTACTTG	0.378																																						ENST00000358290.4																			0				cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11						c.e5+1		hydroxysteroid (17-beta) dehydrogenase 11							130.0	107.0	115.0					4																	88278430		2202	4300	6502	SO:0001630	splice_region_variant	51170				androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity	g.chr4:88278430C>A	AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	22960	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 2"", ""short chain dehydrogenase/reductase family 16C, member 2"""	612831	"""dehydrogenase/reductase (SDR family) member 8"""	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.695+1G>T	4.37:g.88278430C>A			Somatic				HSD17B11_ENST00000507286.1_Splice_Site|HSD17B11_ENST00000507518.1_Splice_Site		NM_016245.3	NP_057329.2	WXS	Illumina GAIIx	Phase_I	Q8NBQ5	DHB11_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000339)	5	1011	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)						Q96HF6|Q9UKU4	Splice_Site	SNP	ENST00000358290.4	37		CCDS3619.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177427	0.57692	.	.	ENSG00000198189	ENST00000358290;ENST00000507286	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5186	0.90943	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HSD17B11	88497454	1.000000	0.71417	0.984000	0.44739	0.614000	0.37383	4.693000	0.61753	2.653000	0.90120	0.561000	0.74099	.		0.378	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253041.1	NM_016245	Intron	3	24	3	24	---	---	---	---
NPY2R	4887	broad.mit.edu	37	4	156136067	156136067	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr4:156136067G>T	ENST00000329476.3	+	2	1465	c.976G>T	c.(976-978)Ggc>Tgc	p.G326C	NPY2R_ENST00000506608.1_Missense_Mutation_p.G326C	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	326					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	CCTTCTCTATGGCTGGATGAA	0.522																																						ENST00000329476.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36						c.(976-978)Ggc>Tgc		neuropeptide Y receptor Y2							112.0	96.0	101.0					4																	156136067		2203	4300	6503	SO:0001583	missense	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156136067G>T	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.976G>T	4.37:g.156136067G>T	ENSP00000332591:p.Gly326Cys		Somatic				NPY2R_ENST00000506608.1_Missense_Mutation_p.G326C	p.G326C	NM_000910.2	NP_000901.1	WXS	Illumina GAIIx	Phase_I	P49146	NPY2R_HUMAN			2	1465	+	all_hematologic(180;0.24)	Renal(120;0.0854)	326					Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	c.976G>T	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411227	0.83340	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.55052	0.54;0.54	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.71134	0.3304	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68078	-0.5504	10	0.40728	T	0.16	.	18.9076	0.92469	0.0:0.0:1.0:0.0	.	326	P49146	NPY2R_HUMAN	C	326	ENSP00000332591:G326C;ENSP00000426366:G326C	ENSP00000332591:G326C	G	+	1	0	NPY2R	156355517	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	9.869000	0.99810	2.711000	0.92665	0.643000	0.83706	GGC		0.522	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		13	111	13	111	---	---	---	---
CREB5	9586	broad.mit.edu	37	7	28527795	28527795	+	Silent	SNP	T	T	C			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr7:28527795T>C	ENST00000357727.2	+	2	396	c.6T>C	c.(4-6)atT>atC	p.I2I	CREB5_ENST00000409603.1_5'Flank|CREB5_ENST00000396299.2_Intron|CREB5_ENST00000396300.2_5'UTR	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	2					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						TCCTTCAGATTTATGAGGAAT	0.507																																						ENST00000357727.2																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						c.(4-6)atT>atC		cAMP responsive element binding protein 5							99.0	102.0	101.0					7																	28527795		2203	4300	6503	SO:0001819	synonymous_variant	9586				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:28527795T>C	L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.6T>C	7.37:g.28527795T>C			Somatic				CREB5_ENST00000396300.2_5'UTR|CREB5_ENST00000396299.2_Intron	p.I2I	NM_182898.2	NP_878901.2	WXS	Illumina GAIIx	Phase_I	Q02930	CREB5_HUMAN			2	396	+			2					A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Silent	SNP	ENST00000357727.2	37	c.6T>C	CCDS5417.1																																																																																				0.507	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904		4	94	4	94	---	---	---	---
CLCN1	1180	broad.mit.edu	37	7	143013473	143013473	+	Silent	SNP	C	C	A			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr7:143013473C>A	ENST00000343257.2	+	1	255	c.168C>A	c.(166-168)gtC>gtA	p.V56V		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	56					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GCCACAACGTCCACCCCACAC	0.577																																						ENST00000343257.2																			0				breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(166-168)gtC>gtA		chloride channel, voltage-sensitive 1							59.0	60.0	60.0					7																	143013473		2194	4288	6482	SO:0001819	synonymous_variant	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143013473C>A	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.168C>A	7.37:g.143013473C>A			Somatic					p.V56V	NM_000083.2	NP_000074	WXS	Illumina GAIIx	Phase_I	P35523	CLCN1_HUMAN			1	255	+	Melanoma(164;0.205)		56					A4D2H5|Q2M202	Silent	SNP	ENST00000343257.2	37	c.168C>A	CCDS5881.1																																																																																				0.577	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		5	65	5	65	---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103298847	103298847	+	Splice_Site	SNP	T	T	C			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr8:103298847T>C	ENST00000520539.1	-	38	5564		c.e38-2		UBR5_ENST00000519528.1_5'Flank|UBR5_ENST00000220959.4_Splice_Site|UBR5_ENST00000521922.1_Splice_Site	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5						cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGCTTGCTCCTAAAATTTTTA	0.333																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.e38-2		ubiquitin protein ligase E3 component n-recognin 5							34.0	33.0	33.0					8																	103298847		2203	4300	6503	SO:0001630	splice_region_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103298847T>C	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.4958-2A>G	8.37:g.103298847T>C			Somatic				UBR5_ENST00000220959.4_Splice_Site|UBR5_ENST00000521922.1_Splice_Site		NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	WXS	Illumina GAIIx	Phase_I	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		38	5564	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)							B2RP24|J3KMW7|O94970|Q9NPL3	Splice_Site	SNP	ENST00000520539.1	37		CCDS34933.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.421517	0.83559	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.021	0.80493	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	UBR5	103368023	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.918000	0.87506	2.186000	0.69663	0.533000	0.62120	.		0.333	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902	Intron	2	14	2	14	---	---	---	---
DDX31	64794	broad.mit.edu	37	9	135537842	135537842	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr9:135537842T>C	ENST00000372159.3	-	2	782	c.631A>G	c.(631-633)Att>Gtt	p.I211V	DDX31_ENST00000310532.2_Missense_Mutation_p.I211V|DDX31_ENST00000480876.1_5'UTR|DDX31_ENST00000544003.1_Missense_Mutation_p.I115V|DDX31_ENST00000372153.1_Missense_Mutation_p.I211V|DDX31_ENST00000438527.3_Missense_Mutation_p.I82V	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	211						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		AGTTCTGGAATGTCAGGGTTG	0.428																																						ENST00000372159.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(631-633)Att>Gtt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 31							156.0	150.0	152.0					9																	135537842		2203	4300	6503	SO:0001583	missense	64794					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr9:135537842T>C	AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"""DEAD-boxes"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16715	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 25"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"""				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.631A>G	9.37:g.135537842T>C	ENSP00000361232:p.Ile211Val		Somatic				DDX31_ENST00000544003.1_Missense_Mutation_p.I115V|DDX31_ENST00000372153.1_Missense_Mutation_p.I211V|DDX31_ENST00000310532.2_Missense_Mutation_p.I211V|DDX31_ENST00000438527.3_Missense_Mutation_p.I82V|DDX31_ENST00000480876.1_5'UTR	p.I211V	NM_022779.7	NP_073616.6	WXS	Illumina GAIIx	Phase_I	Q9H8H2	DDX31_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)	2	782	-			211					Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	ENST00000372159.3	37	c.631A>G	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	T	13.64	2.297336	0.40694	.	.	ENSG00000125485	ENST00000372159;ENST00000372155;ENST00000372153;ENST00000438527;ENST00000310532;ENST00000544003	T;T;T;T;T	0.57752	4.38;3.94;4.39;3.51;0.38	5.6	4.47	0.54385	.	0.050373	0.85682	N	0.000000	T	0.44561	0.1299	L	0.41573	1.285	0.44798	D	0.997806	P;P;P	0.49559	0.453;0.596;0.925	B;P;B	0.45856	0.159;0.495;0.395	T	0.24905	-1.0147	10	0.29301	T	0.29	-18.4017	8.3023	0.32021	0.0:0.1517:0.0:0.8483	.	211;211;211	Q9H8H2-2;Q9H8H2-3;Q9H8H2	.;.;DDX31_HUMAN	V	211;211;211;82;211;115	ENSP00000361232:I211V;ENSP00000361226:I211V;ENSP00000387730:I82V;ENSP00000310539:I211V;ENSP00000442425:I115V	ENSP00000310539:I211V	I	-	1	0	DDX31	134527663	1.000000	0.71417	0.718000	0.30602	0.960000	0.62799	3.815000	0.55651	0.951000	0.37770	-0.264000	0.10439	ATT		0.428	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620		14	73	14	73	---	---	---	---
NAALAD2	10003	broad.mit.edu	37	11	89880613	89880613	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr11:89880613G>A	ENST00000534061.1	+	3	540	c.310G>A	c.(310-312)Gat>Aat	p.D104N	NAALAD2_ENST00000525171.1_Missense_Mutation_p.D104N|NAALAD2_ENST00000321955.4_Missense_Mutation_p.D104N|NAALAD2_ENST00000375944.3_Missense_Mutation_p.D104N	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	104					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGTTCATTATGATGTCCTCTT	0.373																																						ENST00000534061.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59						c.(310-312)Gat>Aat		N-acetylated alpha-linked acidic dipeptidase 2							103.0	98.0	99.0					11																	89880613		2201	4299	6500	SO:0001583	missense	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89880613G>A	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.310G>A	11.37:g.89880613G>A	ENSP00000432481:p.Asp104Asn		Somatic				NAALAD2_ENST00000321955.4_Missense_Mutation_p.D104N|NAALAD2_ENST00000375944.3_Missense_Mutation_p.D104N|NAALAD2_ENST00000525171.1_Missense_Mutation_p.D104N	p.D104N	NM_005467.3	NP_005458.1	WXS	Illumina GAIIx	Phase_I	Q9Y3Q0	NALD2_HUMAN			3	540	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	104					B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.310G>A	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180751	0.57800	.	.	ENSG00000077616	ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944;ENST00000526637	T;T;T;T;T	0.48836	1.22;1.35;0.8;2.23;2.23	4.94	4.94	0.65067	.	0.000000	0.64402	D	0.000001	T	0.65831	0.2729	L	0.57536	1.79	0.58432	D	0.999994	P;P;P;D;P	0.76494	0.785;0.464;0.59;0.999;0.945	B;B;B;D;B	0.78314	0.247;0.15;0.248;0.991;0.446	T	0.64508	-0.6391	9	.	.	.	-26.1925	18.5843	0.91182	0.0:0.0:1.0:0.0	.	104;104;104;104;104	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	N	104;104;104;104;50	ENSP00000432481:D104N;ENSP00000320083:D104N;ENSP00000435249:D104N;ENSP00000365111:D104N;ENSP00000435670:D50N	.	D	+	1	0	NAALAD2	89520261	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.154000	0.71826	2.442000	0.82660	0.644000	0.83932	GAT		0.373	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		4	60	4	60	---	---	---	---
CD163	9332	broad.mit.edu	37	12	7640092	7640092	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr12:7640092A>C	ENST00000359156.4	-	8	2115	c.1913T>G	c.(1912-1914)tTt>tGt	p.F638C	CD163_ENST00000541972.1_Missense_Mutation_p.F626C|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000396620.3_Missense_Mutation_p.F671C|CD163_ENST00000432237.2_Missense_Mutation_p.F638C	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	638	SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TCCTTTTCCAAAACGTGCTCC	0.488																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(1912-1914)tTt>tGt		CD163 molecule							153.0	140.0	144.0					12																	7640092		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7640092A>C	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1913T>G	12.37:g.7640092A>C	ENSP00000352071:p.Phe638Cys		Somatic				CD163_ENST00000432237.2_Missense_Mutation_p.F638C|CD163_ENST00000541972.1_Missense_Mutation_p.F626C|CD163_ENST00000396620.3_Missense_Mutation_p.F671C	p.F638C	NM_004244.5	NP_004235.4	WXS	Illumina GAIIx	Phase_I	Q86VB7	C163A_HUMAN			8	2115	-			638			SRCR 6.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.1913T>G	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	A	12.96	2.094634	0.36952	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.14	5.14	0.70334	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.070349	0.64402	D	0.000011	T	0.64692	0.2621	H	0.95982	3.75	0.40038	D	0.97561	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.988;0.992	T	0.74359	-0.3691	10	0.87932	D	0	.	8.669	0.34138	0.8299:0.0:0.0:0.1701	.	671;638;638	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	C	638;626;671;638	ENSP00000352071:F638C;ENSP00000444071:F626C;ENSP00000379863:F671C;ENSP00000403885:F638C	ENSP00000352071:F638C	F	-	2	0	CD163	7531359	1.000000	0.71417	0.994000	0.49952	0.095000	0.18619	7.181000	0.77682	2.070000	0.61991	0.533000	0.62120	TTT		0.488	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		11	103	11	103	---	---	---	---
TM9SF1	10548	broad.mit.edu	37	14	24661453	24661453	+	Silent	SNP	C	C	T			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr14:24661453C>T	ENST00000261789.4	-	4	1435	c.1077G>A	c.(1075-1077)gtG>gtA	p.V359V	TM9SF1_ENST00000396854.4_Silent_p.V359V|RP11-468E2.2_ENST00000561419.1_5'Flank|TM9SF1_ENST00000524835.1_Silent_p.V272V|TM9SF1_ENST00000556387.1_Silent_p.V568V|TM9SF1_ENST00000528669.1_Silent_p.V359V|TM9SF1_ENST00000530611.1_Silent_p.V568V	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	359					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		AGTGGCTGGACACGTAGCCAG	0.547																																						ENST00000530611.1																			0				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24						c.(1702-1704)gtG>gtA		transmembrane 9 superfamily member 1							116.0	109.0	111.0					14																	24661453		2203	4300	6503	SO:0001819	synonymous_variant	10548				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr14:24661453C>T	U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.1077G>A	14.37:g.24661453C>T			Somatic				TM9SF1_ENST00000261789.4_Silent_p.V359V|TM9SF1_ENST00000396854.4_Silent_p.V359V|TM9SF1_ENST00000524835.1_Silent_p.V272V|TM9SF1_ENST00000556387.1_Silent_p.V568V|TM9SF1_ENST00000528669.1_Silent_p.V359V	p.V568V			WXS	Illumina GAIIx	Phase_I	O15321	TM9S1_HUMAN		GBM - Glioblastoma multiforme(265;0.0183)	8	1737	-			359					D3DS65|Q86SZ6|Q96FI8	Silent	SNP	ENST00000261789.4	37	c.1704G>A	CCDS9617.1																																																																																				0.547	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073136.2	NM_006405		11	156	11	156	---	---	---	---
FMN1	342184	broad.mit.edu	37	15	33194152	33194152	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr15:33194152G>T	ENST00000559047.1	-	10	3466	c.3467C>A	c.(3466-3468)tCc>tAc	p.S1156Y	FMN1_ENST00000334528.9_Missense_Mutation_p.S933Y|FMN1_ENST00000561249.1_Missense_Mutation_p.S1058Y			Q68DA7	FMN1_HUMAN	formin 1	1156	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCTGTGCAAGGAGGTGATACC	0.398																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(2797-2799)tCc>tAc		formin 1							105.0	100.0	101.0					15																	33194152		1853	4111	5964	SO:0001583	missense	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33194152G>T	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.3467C>A	15.37:g.33194152G>T	ENSP00000454047:p.Ser1156Tyr		Somatic				FMN1_ENST00000561249.1_Missense_Mutation_p.S1058Y|FMN1_ENST00000559047.1_Missense_Mutation_p.S1156Y	p.S933Y	NM_001103184.2	NP_001096654.1	WXS	Illumina GAIIx	Phase_I	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	9	2797	-		all_lung(180;1.14e-07)	1156			FH1.|Pro-rich.		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.2798C>A		.	.	.	.	.	.	.	.	.	.	G	21.0	4.078654	0.76528	.	.	ENSG00000248905	ENST00000334528	T	0.17528	2.27	6.02	6.02	0.97574	.	0.098793	0.64402	D	0.000001	T	0.49064	0.1535	M	0.82323	2.585	.	.	.	D	0.76494	0.999	D	0.79784	0.993	T	0.47935	-0.9078	9	0.72032	D	0.01	.	20.1323	0.98003	0.0:0.0:1.0:0.0	.	933	Q68DA7-5	.	Y	933	ENSP00000333950:S933Y	ENSP00000333950:S933Y	S	-	2	0	FMN1	30981444	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	9.327000	0.96396	2.857000	0.98124	0.650000	0.86243	TCC		0.398	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		3	34	3	34	---	---	---	---
ZNF770	54989	broad.mit.edu	37	15	35274087	35274087	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr15:35274087G>C	ENST00000356321.4	-	3	1893	c.1549C>G	c.(1549-1551)Cac>Gac	p.H517D		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	517					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		CTTTTTAAGTGAGCTGACTGT	0.343																																						ENST00000356321.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29						c.(1549-1551)Cac>Gac		zinc finger protein 770							58.0	59.0	59.0					15																	35274087		2201	4298	6499	SO:0001583	missense	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35274087G>C	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.1549C>G	15.37:g.35274087G>C	ENSP00000348673:p.His517Asp		Somatic					p.H517D	NM_014106.3	NP_054825.2	WXS	Illumina GAIIx	Phase_I	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	3	1893	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	517					Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	c.1549C>G	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.979480	0.34942	.	.	ENSG00000198146	ENST00000356321	T	0.51325	0.71	5.1	5.1	0.69264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.49423	0.1556	N	0.12611	0.24	0.27127	N	0.961981	D	0.76494	0.999	D	0.70935	0.971	T	0.46005	-0.9222	10	0.15499	T	0.54	-6.2734	18.6985	0.91611	0.0:0.0:1.0:0.0	.	517	Q6IQ21	ZN770_HUMAN	D	517	ENSP00000348673:H517D	ENSP00000348673:H517D	H	-	1	0	ZNF770	33061379	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.119000	0.57891	2.646000	0.89796	0.467000	0.42956	CAC		0.343	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		3	50	3	50	---	---	---	---
LTK	4058	broad.mit.edu	37	15	41804906	41804906	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr15:41804906G>A	ENST00000263800.6	-	3	454	c.358C>T	c.(358-360)Ctg>Ttg	p.L120L	LTK_ENST00000453182.2_Splice_Site_p.L120L|LTK_ENST00000561619.1_Intron|LTK_ENST00000355166.5_Splice_Site_p.L120L	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	120					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TGCACTTACAGATACTGGCCA	0.667										TSP Lung(18;0.14)																												ENST00000263800.6																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26						c.(358-360)Ctg>Ttg		leukocyte receptor tyrosine kinase							11.0	12.0	11.0					15																	41804906		2183	4252	6435	SO:0001630	splice_region_variant	4058				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:41804906G>A	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.359+1C>T	15.37:g.41804906G>A		TSP Lung(18;0.14)	Somatic				LTK_ENST00000453182.2_Splice_Site_p.L120L|LTK_ENST00000355166.5_Splice_Site_p.L120L|LTK_ENST00000561619.1_Intron	p.L120L	NM_002344.5	NP_002335.2	WXS	Illumina GAIIx	Phase_I	P29376	LTK_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	3	454	-		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)	120					A6NNJ8|B4DL89|E9PFX4	Splice_Site	SNP	ENST00000263800.6	37	c.358C>T	CCDS10077.1																																																																																				0.667	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2		Silent	4	16	4	16	---	---	---	---
ENTHD2	146705	broad.mit.edu	37	17	79207240	79207240	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr17:79207240C>A	ENST00000300714.3	-	7	575	c.518G>T	c.(517-519)gGc>gTc	p.G173V	AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000374769.2_Missense_Mutation_p.G21V|AC027601.1_ENST00000569559.1_RNA	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	173						cytoplasmic vesicle (GO:0031410)											ACCCGTGCGGCCGTGTTCCTT	0.687																																						ENST00000374769.2																			0											c.(61-63)gGc>gTc		ENTH domain containing 2							46.0	42.0	44.0					17																	79207240		2203	4300	6503	SO:0001583	missense	146705							g.chr17:79207240C>A	AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 56"""	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.518G>T	17.37:g.79207240C>A	ENSP00000300714:p.Gly173Val		Somatic				AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000300714.3_Missense_Mutation_p.G173V	p.G21V			WXS	Illumina GAIIx	Phase_I					7	539	-								Q6ZQU0|Q6ZSQ9	Missense_Mutation	SNP	ENST00000300714.3	37	c.62G>T	CCDS11779.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485275	0.44147	.	.	ENSG00000167302	ENST00000300714;ENST00000374769	T	0.20463	2.07	4.88	1.47	0.22746	.	0.568732	0.19232	N	0.119391	T	0.19765	0.0475	N	0.22421	0.69	0.09310	N	0.999996	D;P	0.54964	0.969;0.893	P;P	0.55923	0.787;0.563	T	0.13415	-1.0510	10	0.20519	T	0.43	-15.2324	7.883	0.29633	0.0:0.4151:0.4932:0.0917	.	173;21	Q96N21;Q96N21-2	CQ056_HUMAN;.	V	173;21	ENSP00000300714:G173V	ENSP00000300714:G173V	G	-	2	0	C17orf56	76821835	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	0.744000	0.26245	0.438000	0.26450	0.462000	0.41574	GGC		0.687	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439315.1	NM_144679		3	31	3	31	---	---	---	---
CAMSAP3	57662	broad.mit.edu	37	19	7675491	7675491	+	Missense_Mutation	SNP	C	C	T	rs375404607		TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr19:7675491C>T	ENST00000160298.4	+	6	991	c.890C>T	c.(889-891)cCg>cTg	p.P297L	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.P324L	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	297	CH.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						TACGTCCCACCGCCACTCAAG	0.667																																						ENST00000446248.2																			0				cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						c.(970-972)cCg>cTg		calmodulin regulated spectrin-associated protein family, member 3		C	LEU/PRO,LEU/PRO	0,4090		0,0,2045	96.0	109.0	105.0		971,890	5.4	0.7	19		105	1,8341		0,1,4170	no	missense,missense	CAMSAP3	NM_001080429.2,NM_020902.1	98,98	0,1,6215	TT,TC,CC		0.012,0.0,0.0080	probably-damaging,probably-damaging	324/1277,297/1250	7675491	1,12431	2045	4171	6216	SO:0001583	missense	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7675491C>T	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.890C>T	19.37:g.7675491C>T	ENSP00000160298:p.Pro297Leu		Somatic				CAMSAP3_ENST00000160298.4_Missense_Mutation_p.P297L	p.P324L	NM_001080429.2	NP_001073898.1	WXS	Illumina GAIIx	Phase_I	Q9P1Y5	CAMP3_HUMAN			8	1072	+			297					Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	c.971C>T	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	c	12.10	1.836754	0.32421	0.0	1.2E-4	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.14266	2.52;2.53	5.41	5.41	0.78517	Calponin homology domain (2);	0.342411	0.30809	N	0.008832	T	0.24661	0.0598	L	0.38531	1.155	0.46478	D	0.999067	P;D	0.71674	0.934;0.998	P;P	0.56788	0.52;0.806	T	0.00391	-1.1769	10	0.56958	D	0.05	-22.5117	17.9714	0.89113	0.0:1.0:0.0:0.0	.	297;324	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	L	324;297	ENSP00000416797:P324L;ENSP00000160298:P297L	ENSP00000160298:P297L	P	+	2	0	KIAA1543	7581491	0.008000	0.16893	0.728000	0.30774	0.050000	0.14768	1.160000	0.31761	2.533000	0.85409	0.643000	0.83706	CCG		0.667	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		12	242	12	242	---	---	---	---
NWD1	284434	broad.mit.edu	37	19	16861005	16861005	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr19:16861005G>C	ENST00000552788.1	+	4	1552	c.1552G>C	c.(1552-1554)Gtg>Ctg	p.V518L	NWD1_ENST00000549814.1_Missense_Mutation_p.V518L|NWD1_ENST00000523826.1_Missense_Mutation_p.V312L|NWD1_ENST00000339803.6_Missense_Mutation_p.V383L|NWD1_ENST00000379808.3_Missense_Mutation_p.V518L|NWD1_ENST00000524140.2_Missense_Mutation_p.V518L			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	518	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCTGAGCCCGGTGCACACAGA	0.632																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1552-1554)Gtg>Ctg		NACHT and WD repeat domain containing 1							37.0	37.0	37.0					19																	16861005		2202	4300	6502	SO:0001583	missense	284434						ATP binding	g.chr19:16861005G>C	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1552G>C	19.37:g.16861005G>C	ENSP00000447224:p.Val518Leu		Somatic				NWD1_ENST00000552788.1_Missense_Mutation_p.V518L|NWD1_ENST00000523826.1_Missense_Mutation_p.V312L|NWD1_ENST00000339803.6_Missense_Mutation_p.V383L|NWD1_ENST00000379808.3_Missense_Mutation_p.V518L|NWD1_ENST00000549814.1_Missense_Mutation_p.V518L	p.V518L	NM_001007525.3	NP_001007526.3	WXS	Illumina GAIIx	Phase_I	Q149M9	NWD1_HUMAN			6	1970	+			518			NACHT.		C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.1552G>C		.	.	.	.	.	.	.	.	.	.	g	0.111	-1.138388	0.01742	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.55760	0.5;0.56;0.5;0.5;0.56;0.56	5.04	2.87	0.33458	.	1.126930	0.06683	N	0.768358	T	0.36991	0.0987	N	0.14661	0.345	0.09310	N	1	B;B;B	0.23249	0.013;0.082;0.039	B;B;B	0.21546	0.006;0.035;0.016	T	0.28299	-1.0048	10	0.29301	T	0.29	-0.8365	9.7041	0.40205	0.1749:0.0:0.8251:0.0	.	518;518;383	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	L	383;518;518;518;312;518;383	ENSP00000428579:V518L;ENSP00000447548:V518L;ENSP00000369136:V518L;ENSP00000428955:V312L;ENSP00000447224:V518L;ENSP00000340159:V383L	ENSP00000340159:V383L	V	+	1	0	NWD1	16722005	0.455000	0.25736	0.000000	0.03702	0.098000	0.18820	3.817000	0.55668	0.525000	0.28522	0.549000	0.68633	GTG		0.632	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		4	101	4	101	---	---	---	---
LINC01322	103695433	broad.mit.edu	37	3	165320249	165320250	+	lincRNA	DEL	TA	TA	-			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr3:165320249_165320250delTA	ENST00000496693.1	+	0	508																											TTTGCTCCAGTACTTCCAGCAA	0.351																																						ENST00000496693.1																			0																																																			103695433							g.chr3:165320249_165320250delTA																													3.37:g.165320249_165320250delTA			Somatic								WXS	Illumina GAIIx	Phase_I					0	508	+									RNA	DEL	ENST00000496693.1	37																																																																																						0.351	RP11-85M11.2-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000350253.1			8	63	8	63	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89720811	89720812	+	Frame_Shift_Ins	INS	-	-	A	rs587783058|rs121913291		TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr10:89720811_89720812insA	ENST00000371953.3	+	8	2319_2320	c.962_963insA	c.(961-966)acaaaafs	p.TK321fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	321	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.T321fs*23(9)|p.T321fs*3(7)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.N323fs*2(2)|p.T319_K332del(1)|p.T321fs*22(1)|p.G165_*404del(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.T321fs*6(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTTACTTTAACAAAAAATGATC	0.327	N323fs*2(MFE319_ENDOMETRIUM)|N323fs*2(RL952_ENDOMETRIUM)|N323fs*2(SKUT1_SOFT_TISSUE)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3	N323fs*2(MFE319_ENDOMETRIUM)|N323fs*2(RL952_ENDOMETRIUM)|N323fs*2(SKUT1_SOFT_TISSUE)	31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		73	Whole gene deletion(37)|Deletion - Frameshift(20)|Insertion - Frameshift(10)|Deletion - In frame(4)|Unknown(2)	p.0?(37)|p.T321fs*23(9)|p.T321fs*3(7)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.N323fs*2(2)|p.T319_K332del(1)|p.T321fs*22(1)|p.G165_*404del(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.T321fs*6(1)	endometrium(18)|prostate(16)|central_nervous_system(12)|skin(7)|lung(4)|ovary(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|urinary_tract(2)|large_intestine(1)|stomach(1)|soft_tissue(1)|pancreas(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(961-966)acaaaafs		phosphatase and tensin homolog																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720811_89720812insA	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.968dupA	10.37:g.89720817_89720817dupA	ENSP00000361021:p.Thr321fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	Somatic				PTEN_ENST00000472832.1_3'UTR	p.TK321fs	NM_000314.4	NP_000305.3	WXS	Illumina GAIIx	Phase_I	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	2319_2320	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	321			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	ENST00000371953.3	37	c.962_963insA	CCDS31238.1																																																																																				0.327	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		15	108	15	108	---	---	---	---
